Mercurial > repos > nathandunn > biolinkmonarchinitiative


{"highlighting": {"OMIM:211355": {"definition_eng": [" angular deformity and shortening of the long bones, particularly the <em class=\"hilite\">femurs</em>, tibiae and ulnae."]}, "HP:0006375": {"label_std": ["Dumbbell-shaped <em class=\"hilite\">femur</em>"], "definition_eng": ["The <em class=\"hilite\">femur</em> is shortened and displays flaring (widening) of the metaphyses."], "label_eng": ["Dumbbell-shaped <em class=\"hilite\">femur</em>"], "definition_std": ["The <em class=\"hilite\">femur</em> is shortened and displays flaring (widening) of the metaphyses."]}, "HP:0030038": {"definition_eng": [" of the hands and feet, distal <em class=\"hilite\">femur</em>, and proximal humerus."], "definition_std": [" of the hands and feet, distal <em class=\"hilite\">femur</em>, and proximal humerus."]}, "MESH:C537917": {"label_std": ["<em class=\"hilite\">Femur</em> bifid with monodactylous ectrodactyly"], "synonym_eng": ["<em class=\"hilite\">Femur</em>, Unilateral Bifid, With Monodactylous Ectrodactyly"], "label_eng": ["<em class=\"hilite\">Femur</em> bifid with monodactylous ectrodactyly"], "synonym_std": ["<em class=\"hilite\">Femur</em>, Unilateral Bifid, With Monodactylous Ectrodactyly"]}, "VT:0003856": {"definition_eng": [" of the proximal element of the developing hindlimb that will give rise to the <em class=\"hilite\">femur</em>."], "definition_std": [" the proximal element of the developing hindlimb that will give rise to the <em class=\"hilite\">femur</em>."]}, "HP:0008797": {"definition_eng": ["Developmental acceleration of ossification of the proximal epiphysis of the <em class=\"hilite\">femur</em>."], "definition_std": ["Developmental acceleration of ossification of the proximal epiphysis of the <em class=\"hilite\">femur</em>."]}, "HP:0008828": {"definition_eng": ["Developmental delay of ossification of the proximal epiphysis of the <em class=\"hilite\">femur</em>."], "definition_std": ["Developmental delay of ossification of the proximal epiphysis of the <em class=\"hilite\">femur</em>."]}, "HP:0003084": {"definition_eng": ["An increased tendency to fractures of the long bones (Mainly, the <em class=\"hilite\">femur</em>, tibia, fibula,humerus"], "definition_std": ["An increased tendency to fractures of the long bones (Mainly, the <em class=\"hilite\">femur</em>, tibia, fibula,humerus"]}, "HP:0006384": {"label_std": ["Club-shaped distal <em class=\"hilite\">femur</em>"], "definition_eng": ["An abnormal conformation of the <em class=\"hilite\">femur</em> that becomes gradually enlarged towards the distal end. This"], "label_eng": ["Club-shaped distal <em class=\"hilite\">femur</em>"], "definition_std": ["An abnormal conformation of the <em class=\"hilite\">femur</em> that becomes gradually enlarged towards the distal end. This"]}, "Orphanet:1987": {"synonym_eng": ["Congenital short <em class=\"hilite\">femur</em>"], "definition_eng": ["Congenital short <em class=\"hilite\">femur</em> is a rare malformation of variable severity ranging from mild hypoplasia", " to complete absence of the <em class=\"hilite\">femur</em>."], "synonym_std": ["Congenital short <em class=\"hilite\">femur</em>"], "definition_std": ["Congenital short <em class=\"hilite\">femur</em> is a rare malformation of variable severity ranging from mild hypoplasia to", " complete absence of the <em class=\"hilite\">femur</em>."]}, "UBERON:0006862PHENOTYPE": {"label_std": ["diaphysis of <em class=\"hilite\">femur</em> phenotype"], "definition_eng": ["Any phenotype involving diaphysis of <em class=\"hilite\">femur</em>."], "label_eng": ["diaphysis of <em class=\"hilite\">femur</em> phenotype"], "definition_std": ["Any phenotype involving diaphysis of <em class=\"hilite\">femur</em>."]}, "OMIM:228250": {"label_std": ["<em class=\"hilite\">Femur</em>, Unilateral Bifid, With Monodactylous Ectrodactyly"], "synonym_eng": ["<em class=\"hilite\">FEMUR</em>, UNILATERAL BIFID, WITH MONODACTYLOUS ECTRODACTYLY", "Bifid <em class=\"hilite\">femur</em>-monodactylous ectrodactyly syndrome"], "synonym_std": ["<em class=\"hilite\">FEMUR</em>, UNILATERAL BIFID, WITH MONODACTYLOUS ECTRODACTYLY", "Bifid <em class=\"hilite\">femur</em>-monodactylous ectrodactyly syndrome"], "definition_eng": [" ipsilateral bifurcation of the <em class=\"hilite\">femur</em>."], "label_eng": ["<em class=\"hilite\">Femur</em>, Unilateral Bifid, With Monodactylous Ectrodactyly"], "definition_std": [" ipsilateral bifurcation of the <em class=\"hilite\">femur</em>."]}, "HP:0031070": {"definition_eng": [" proximal and distal parts of the <em class=\"hilite\">femur</em> on the transverse plane. Femoral anteversion averages between"], "definition_std": [" proximal and distal parts of the <em class=\"hilite\">femur</em> on the transverse plane. Femoral anteversion averages between 30-40"]}, "HP:0012744": {"synonym_eng": ["Aplasia of the <em class=\"hilite\">femur</em>", "Absent <em class=\"hilite\">femur</em>"], "definition_eng": ["Failure of the <em class=\"hilite\">femur</em> to develop."], "synonym_std": ["Aplasia of the <em class=\"hilite\">femur</em>", "Absent <em class=\"hilite\">femur</em>"], "definition_std": ["Failure of the <em class=\"hilite\">femur</em> to develop."]}, "HP:0006398": {"definition_eng": ["An abnormal flattening of the distal epiphysis of <em class=\"hilite\">femur</em>."], "definition_std": ["An abnormal flattening of the distal epiphysis of <em class=\"hilite\">femur</em>."]}, "HP:0008835": {"definition_eng": ["There is normally one ossification center in the head of the <em class=\"hilite\">femur</em>. This term applies if there are"], "definition_std": ["There is normally one ossification center in the head of the <em class=\"hilite\">femur</em>. This term applies if there are"]}, "DOID:3722": {"definition_eng": [" involvement.  The most commonly affected bones are the vertebrae, ribs, skull, pelvis and <em class=\"hilite\">femur</em>.  X-rays"], "definition_std": [" involvement.  The most commonly affected bones are the vertebrae, ribs, skull, pelvis and <em class=\"hilite\">femur</em>.  X-rays"]}, "Orphanet:168621": {"label_std": ["Dysplasia of head of <em class=\"hilite\">femur</em>, Meyer type"], "label_eng": ["Dysplasia of head of <em class=\"hilite\">femur</em>, Meyer type"]}, "MP:0004348": {"label_std": ["long <em class=\"hilite\">femur</em>"], "synonym_eng": ["increased <em class=\"hilite\">femur</em> length"], "label_eng": ["long <em class=\"hilite\">femur</em>"], "synonym_std": ["increased <em class=\"hilite\">femur</em> length"]}, "HP:0002669": {"definition_eng": [" including the tibia, <em class=\"hilite\">femur</em>, and humerus. The typical symptoms of osteosarcoma comprise bone pain, fracture"], "definition_std": [" including the tibia, <em class=\"hilite\">femur</em>, and humerus. The typical symptoms of osteosarcoma comprise bone pain, fracture"]}, "OMIM:121270": {"definition_eng": [", and seborrheic skin. Spurring of the <em class=\"hilite\">femur</em> and tibia are also noted on radiographic imaging. Symptoms"], "definition_std": [", and seborrheic skin. Spurring of the <em class=\"hilite\">femur</em> and tibia are also noted on radiographic imaging. Symptoms"]}, "HP:0003097": {"label_std": ["Short <em class=\"hilite\">femur</em>"], "synonym_eng": ["Short <em class=\"hilite\">femurs</em>"], "definition_eng": ["An abnormal shortening of the <em class=\"hilite\">femur</em>."], "label_eng": ["Short <em class=\"hilite\">femur</em>"], "definition_std": ["An abnormal shortening of the <em class=\"hilite\">femur</em>."]}, "HP:0008820": {"definition_eng": ["Lack of ossification of the proximal epiphysis of the <em class=\"hilite\">femur</em>."], "definition_std": ["Lack of ossification of the proximal epiphysis of the <em class=\"hilite\">femur</em>."]}, "UBERON:0009980PHENOTYPE": {"label_std": ["condyle of <em class=\"hilite\">femur</em> phenotype"], "definition_eng": ["Any phenotype involving condyle of <em class=\"hilite\">femur</em>."], "label_eng": ["condyle of <em class=\"hilite\">femur</em> phenotype"], "definition_std": ["Any phenotype involving condyle of <em class=\"hilite\">femur</em>."]}, "DOID:3371": {"definition_eng": [" occuring at the ends of the <em class=\"hilite\">femur</em> and tibia, the proximal end of the humerus and the pelvis; and presenting"], "definition_std": [" occuring at the ends of the <em class=\"hilite\">femur</em> and tibia, the proximal end of the humerus and the pelvis; and presenting"]}, "AQTLTrait:134": {"label_std": ["<em class=\"hilite\">Femur</em> dimensions"], "label_eng": ["<em class=\"hilite\">Femur</em> dimensions"]}, "OMIM:228200": {"label_std": ["<em class=\"hilite\">Femur</em>-Fibula-Ulna Syndrome", "<em class=\"hilite\">Femur</em>-fibula-ulna complex"], "synonym_eng": ["<em class=\"hilite\">Femur</em>-fibula-ulna dysostosis", "<em class=\"hilite\">Femur</em>-fibula-ulna syndrome", "<em class=\"hilite\">Femur</em>-Fibula-Ulna Syndrome", "<em class=\"hilite\">FEMUR</em>-FIBULA-ULNA SYNDROME"], "synonym_std": ["<em class=\"hilite\">Femur</em>-fibula-ulna dysostosis", "<em class=\"hilite\">Femur</em>-fibula-ulna syndrome", "<em class=\"hilite\">Femur</em>-Fibula-Ulna Syndrome", "<em class=\"hilite\">FEMUR</em>-FIBULA-ULNA SYNDROME"], "definition_eng": ["<em class=\"hilite\">Femur</em>-fibula-ulna (FFU) complex is a non-lethal congenital anomaly of unknown etiology, more", " <em class=\"hilite\">femur</em>, fibula, and/or ulna, with striking asymmetry, including absence of the proximal part of the <em class=\"hilite\">femur</em>"], "label_eng": ["<em class=\"hilite\">Femur</em>-Fibula-Ulna Syndrome", "<em class=\"hilite\">Femur</em>-fibula-ulna complex"], "definition_std": ["<em class=\"hilite\">Femur</em>-fibula-ulna (FFU) complex is a non-lethal congenital anomaly of unknown etiology, more", " <em class=\"hilite\">femur</em>, fibula, and/or ulna, with striking asymmetry, including absence of the proximal part of the <em class=\"hilite\">femur</em>"]}, "Orphanet:295020": {"label_std": ["Congenital pseudoarthrosis of the <em class=\"hilite\">femur</em>"], "label_eng": ["Congenital pseudoarthrosis of the <em class=\"hilite\">femur</em>"]}, "DOID:5546": {"synonym_eng": ["neoplasm of <em class=\"hilite\">femur</em>"], "definition_eng": ["A bone cancer that is located_in the <em class=\"hilite\">femur</em>."], "synonym_std": ["neoplasm of <em class=\"hilite\">femur</em>"], "definition_std": ["A bone cancer that is located_in the <em class=\"hilite\">femur</em>."]}, "HP:0003370": {"definition_eng": ["An abnormal flattening of the proximal epiphysis of the <em class=\"hilite\">femur</em>."], "definition_std": ["An abnormal flattening of the proximal epiphysis of the <em class=\"hilite\">femur</em>."]}, "MESH:D057925": {"definition_eng": [" of the ACETABULUM and/or <em class=\"hilite\">FEMUR</em> combined with rigorous hip motion, leading to repetitive collisions that"], "definition_std": [" the ACETABULUM and/or <em class=\"hilite\">FEMUR</em> combined with rigorous hip motion, leading to repetitive collisions that"]}, "HP:0004975": {"synonym_eng": ["Erlenmeyer flask deformity of distal <em class=\"hilite\">femur</em>"], "definition_eng": ["Flaring of distal <em class=\"hilite\">femur</em>."], "label_eng": ["Erlenmeyer flask deformity of the <em class=\"hilite\">femurs</em>"], "synonym_std": ["Erlenmeyer flask deformity of distal <em class=\"hilite\">femur</em>"], "definition_std": ["Flaring of distal <em class=\"hilite\">femur</em>."]}, "AQTLTrait:2160": {"label_std": ["<em class=\"hilite\">Femur</em> bone mineral density"], "label_eng": ["<em class=\"hilite\">Femur</em> bone mineral density"]}, "MP:0008152": {"label_std": ["decreased diameter of <em class=\"hilite\">femur</em>"], "synonym_eng": ["thin <em class=\"hilite\">femur</em>", "decreased outer diameter of <em class=\"hilite\">femur</em>", "decreased periosteal diameter of <em class=\"hilite\">femur</em>", "reduced periosteal diameter of <em class=\"hilite\">femur</em>", "reduced outer diameter of <em class=\"hilite\">femur</em>", "reduced diameter of <em class=\"hilite\">femur</em>"], "synonym_std": ["thin <em class=\"hilite\">femur</em>", "decreased outer diameter of <em class=\"hilite\">femur</em>", "decreased periosteal diameter of <em class=\"hilite\">femur</em>", "reduced periosteal diameter of <em class=\"hilite\">femur</em>", "reduced outer diameter of <em class=\"hilite\">femur</em>", "reduced diameter of <em class=\"hilite\">femur</em>"], "definition_eng": ["reduced width of the cross-sectional distance that extends from one lateral edge of the <em class=\"hilite\">femur</em>"], "label_eng": ["decreased diameter of <em class=\"hilite\">femur</em>"], "definition_std": ["reduced width of the cross-sectional distance that extends from one lateral edge of the <em class=\"hilite\">femur</em>"]}, "MP:0013645": {"label_std": ["increased energy dissipated prior to <em class=\"hilite\">femur</em> fracture"], "definition_eng": [" fracture) by the <em class=\"hilite\">femur</em>"], "label_eng": ["increased energy dissipated prior to <em class=\"hilite\">femur</em> fracture"], "definition_std": [" fracture) by the <em class=\"hilite\">femur</em>"]}, "HP:0010443": {"label_std": ["Bifid <em class=\"hilite\">femur</em>"], "definition_eng": ["A bifid or bifurcated appearance of the <em class=\"hilite\">femur</em> as seen on x-rays, possible appearing as a more"], "label_eng": ["Bifid <em class=\"hilite\">femur</em>"], "definition_std": ["A bifid or bifurcated appearance of the <em class=\"hilite\">femur</em> as seen on x-rays, possible appearing as a more or"]}, "HP:0006438": {"definition_eng": ["An abnormal enlargement of the distal epiphysis of the <em class=\"hilite\">femur</em>."], "definition_std": ["An abnormal enlargement of the distal epiphysis of the <em class=\"hilite\">femur</em>."]}, "OMIM:608154": {"definition_eng": [" as slender, undermineralized tubular bones, and dense metaphyseal striations in the distal <em class=\"hilite\">femur</em>, ulna and"], "definition_std": [" slender, undermineralized tubular bones, and dense metaphyseal striations in the distal <em class=\"hilite\">femur</em>, ulna and"]}, "MP:0013635": {"label_std": ["decreased <em class=\"hilite\">femur</em> fracture load"], "label_eng": ["decreased <em class=\"hilite\">femur</em> fracture load"]}, "HP:0003180": {"definition_eng": [" hipbone into which the ball-shaped head of the <em class=\"hilite\">femur</em> fits. The acetabular roof thereby appears horizontal"], "definition_std": [" hipbone into which the ball-shaped head of the <em class=\"hilite\">femur</em> fits. The acetabular roof thereby appears horizontal"]}, "MP:0013638": {"label_std": ["decreased <em class=\"hilite\">femur</em> stiffness"], "definition_eng": ["decrease in material stiffness (N/mm) during elastic deformation in the <em class=\"hilite\">femur</em>"], "label_eng": ["decreased <em class=\"hilite\">femur</em> stiffness"], "definition_std": ["decrease in material stiffness (N/mm) during elastic deformation in the <em class=\"hilite\">femur</em>"]}, "VT:1000666": {"label_std": ["<em class=\"hilite\">femur</em> width"], "label_eng": ["<em class=\"hilite\">femur</em> width"]}, "FBbt:00004711PHENOTYPE": {"label_std": ["Drosophila metathoracic <em class=\"hilite\">femur</em> phenotype", "metathoracic <em class=\"hilite\">femur</em> phenotype"], "label_eng": ["Drosophila metathoracic <em class=\"hilite\">femur</em> phenotype", "metathoracic <em class=\"hilite\">femur</em> phenotype"]}, "HP:0030299": {"definition_eng": ["An anomaly of the metaphysis of the distal <em class=\"hilite\">femur</em> (close to the knee)."], "definition_std": ["An anomaly of the metaphysis of the distal <em class=\"hilite\">femur</em> (close to the knee)."]}, "OMIM:608805": {"label_std": ["Avascular necrosis of the head of <em class=\"hilite\">femur</em>"], "label_eng": ["Avascular necrosis of the head of <em class=\"hilite\">femur</em>"]}, "HP:0002827": {"definition_eng": ["Displacement of the <em class=\"hilite\">femur</em> from its normal location in the hip joint."], "definition_std": ["Displacement of the <em class=\"hilite\">femur</em> from its normal location in the hip joint."]}, "HP:0031171": {"synonym_eng": ["Spurring of <em class=\"hilite\">femur</em>"], "definition_eng": ["A bony projection (spur, osteophyte) originating from the <em class=\"hilite\">femur</em>, often in the medial femoral neck."], "synonym_std": ["Spurring of <em class=\"hilite\">femur</em>"], "definition_std": ["A bony projection (spur, osteophyte) originating from the <em class=\"hilite\">femur</em>, often in the medial femoral neck."]}, "HP:0045079": {"definition_eng": ["Irregularity of the normally smooth surface of the distal metaphysis of the <em class=\"hilite\">femur</em>."], "definition_std": ["Irregularity of the normally smooth surface of the distal metaphysis of the <em class=\"hilite\">femur</em>."]}, "MP:0008158": {"label_std": ["increased diameter of <em class=\"hilite\">femur</em>"], "synonym_eng": ["thick <em class=\"hilite\">femur</em>", "increased outer diameter of <em class=\"hilite\">femur</em>", "increased periosteal diameter of <em class=\"hilite\">femur</em>"], "synonym_std": ["thick <em class=\"hilite\">femur</em>", "increased outer diameter of <em class=\"hilite\">femur</em>", "increased periosteal diameter of <em class=\"hilite\">femur</em>"], "definition_eng": ["increased width of the cross-sectional distance that extends from one lateral edge of the <em class=\"hilite\">femur</em>"], "label_eng": ["increased diameter of <em class=\"hilite\">femur</em>"], "definition_std": ["increased width of the cross-sectional distance that extends from one lateral edge of the <em class=\"hilite\">femur</em>"]}, "DOID:7612": {"definition_eng": [", the distal <em class=\"hilite\">femur</em>, proximal tibia, and proximal humerus.  Pain with or without a palpable mass is the"], "definition_std": [", the distal <em class=\"hilite\">femur</em>, proximal tibia, and proximal humerus.  Pain with or without a palpable mass is the"]}, "HP:0002823": {"label_std": ["Abnormality of <em class=\"hilite\">femur</em> morphology"], "definition_eng": ["Any anomaly of the structure of the <em class=\"hilite\">femur</em>."], "label_eng": ["Abnormality of <em class=\"hilite\">femur</em> morphology"], "definition_std": ["Any anomaly of the structure of the <em class=\"hilite\">femur</em>."]}, "OMIM:187601": {"synonym_eng": ["Thanatophoric Dysplasia With Straight <em class=\"hilite\">Femurs</em> and Cloverleaf Skull", "Thanatophoric Dysplasia With Straight <em class=\"hilite\">Femurs</em> And Cloverleaf Skull"], "definition_eng": [" of curved as opposed to straight <em class=\"hilite\">femurs</em>; patients with straight, relatively long <em class=\"hilite\">femurs</em> always had", " <em class=\"hilite\">femurs</em> with or without cloverleaf skull were designated TD type I (TD1; OMIM:187600) ({4:Langer"]}, "FBbt:00004644PHENOTYPE": {"label_std": ["<em class=\"hilite\">femur</em> phenotype", "Drosophila <em class=\"hilite\">femur</em> phenotype"], "label_eng": ["<em class=\"hilite\">femur</em> phenotype", "Drosophila <em class=\"hilite\">femur</em> phenotype"]}, "HP:0002999": {"definition_eng": ["The kneecap normally is located within the groove termed trochlea on the distal <em class=\"hilite\">femur</em> and can slide"], "definition_std": ["The kneecap normally is located within the groove termed trochlea on the distal <em class=\"hilite\">femur</em> and can slide"]}, "MP:0020010": {"label_std": ["decreased bone mineral density of <em class=\"hilite\">femur</em>"], "synonym_eng": ["decreased BMD of <em class=\"hilite\">femur</em>", "decreased <em class=\"hilite\">femur</em> bone mineral density"], "label_eng": ["decreased bone mineral density of <em class=\"hilite\">femur</em>"], "synonym_std": ["decreased BMD of <em class=\"hilite\">femur</em>", "decreased <em class=\"hilite\">femur</em> bone mineral density"]}, "UBERON:0006767PHENOTYPE": {"label_std": ["head of <em class=\"hilite\">femur</em> phenotype"], "definition_eng": ["Any phenotype involving head of <em class=\"hilite\">femur</em>."], "label_eng": ["head of <em class=\"hilite\">femur</em> phenotype"], "definition_std": ["Any phenotype involving head of <em class=\"hilite\">femur</em>."]}, "OMIM:615777": {"definition_eng": [" trochanter that gives a 'monkey wrench' appearance to the proximal <em class=\"hilite\">femur</em>, and advanced carpal and tarsal"], "definition_std": [" trochanter that gives a 'monkey wrench' appearance to the proximal <em class=\"hilite\">femur</em>, and advanced carpal and tarsal"]}, "MP:0020011": {"label_std": ["increased bone mineral density of <em class=\"hilite\">femur</em>"], "synonym_eng": ["increased BMD of <em class=\"hilite\">femur</em>"], "label_eng": ["increased bone mineral density of <em class=\"hilite\">femur</em>"], "synonym_std": ["increased BMD of <em class=\"hilite\">femur</em>"]}, "HP:0006408": {"label_std": ["Distal tapering <em class=\"hilite\">femur</em>"], "label_eng": ["Distal tapering <em class=\"hilite\">femur</em>"]}, "HP:0010499": {"definition_eng": ["The kneecap normally is located within the groove termed trochlea on the distal <em class=\"hilite\">femur</em> and can slide"], "definition_std": ["The kneecap normally is located within the groove termed trochlea on the distal <em class=\"hilite\">femur</em> and can slide"]}, "MP:0013623": {"label_std": ["increased <em class=\"hilite\">femur</em> compact bone thickness"], "synonym_eng": ["increased <em class=\"hilite\">femur</em> dense bone thickness", "increased <em class=\"hilite\">femur</em> lamellar bone thickness", "increased <em class=\"hilite\">femur</em> cortical bone morphology thickness"], "synonym_std": ["increased <em class=\"hilite\">femur</em> dense bone thickness", "increased <em class=\"hilite\">femur</em> lamellar bone thickness", "increased <em class=\"hilite\">femur</em> cortical bone morphology thickness"], "definition_eng": ["increased width of the superficial layer of compact bone at the midpoint of the <em class=\"hilite\">femur</em>"], "label_eng": ["increased <em class=\"hilite\">femur</em> compact bone thickness"], "definition_std": ["increased width of the superficial layer of compact bone at the midpoint of the <em class=\"hilite\">femur</em>"]}, "VT:0000559": {"label_std": ["<em class=\"hilite\">femur</em> morphology trait"], "label_eng": ["<em class=\"hilite\">femur</em> morphology trait"]}, "VT:0100001": {"definition_eng": [" larger of the two bones of the lower leg, which articulates with the <em class=\"hilite\">femur</em>, fibula, and talus."], "definition_std": [" larger of the two bones of the lower leg, which articulates with the <em class=\"hilite\">femur</em>, fibula, and talus."]}, "HP:0030043": {"definition_eng": ["A partial dislocation of the hip joint, whereby the head of the <em class=\"hilite\">femur</em> is partially displaced from"], "definition_std": ["A partial dislocation of the hip joint, whereby the head of the <em class=\"hilite\">femur</em> is partially displaced from"]}, "HP:0005003": {"definition_eng": ["Absence or underdevelopment of the proximal epiphysis of the <em class=\"hilite\">femur</em>."], "definition_std": ["Absence or underdevelopment of the proximal epiphysis of the <em class=\"hilite\">femur</em>."]}, "MP:0013634": {"label_std": ["increased <em class=\"hilite\">femur</em> fracture load"], "label_eng": ["increased <em class=\"hilite\">femur</em> fracture load"]}, "HP:0008783": {"definition_eng": ["Increased width of the proximal part of the shaft (metaphysis) of the <em class=\"hilite\">femur</em>."], "definition_std": ["Increased width of the proximal part of the shaft (metaphysis) of the <em class=\"hilite\">femur</em>."]}, "UBERON:0000981PHENOTYPE": {"label_std": ["<em class=\"hilite\">femur</em> phenotype"], "definition_eng": ["Any phenotype involving <em class=\"hilite\">femur</em>."], "label_eng": ["<em class=\"hilite\">femur</em> phenotype"], "definition_std": ["Any phenotype involving <em class=\"hilite\">femur</em>."]}, "HP:0008789": {"definition_eng": ["A cone-shaped deformity of the proximal epiphysis of the <em class=\"hilite\">femur</em>."], "definition_std": ["A cone-shaped deformity of the proximal epiphysis of the <em class=\"hilite\">femur</em>."]}, "MP:0013622": {"label_std": ["abnormal <em class=\"hilite\">femur</em> compact bone thickness"], "synonym_eng": ["abnormal <em class=\"hilite\">femur</em> dense bone thickness", "abnormal <em class=\"hilite\">femur</em> lamellar bone thickness", "abnormal <em class=\"hilite\">femur</em> cortical bone morphology thickness"], "synonym_std": ["abnormal <em class=\"hilite\">femur</em> dense bone thickness", "abnormal <em class=\"hilite\">femur</em> lamellar bone thickness", "abnormal <em class=\"hilite\">femur</em> cortical bone morphology thickness"], "definition_eng": ["reduced or increased width of the superficial layer of compact bone at the midpoint of the <em class=\"hilite\">femur</em>"], "label_eng": ["abnormal <em class=\"hilite\">femur</em> compact bone thickness"], "definition_std": ["reduced or increased width of the superficial layer of compact bone at the midpoint of the <em class=\"hilite\">femur</em>"]}, "HP:0012427": {"definition_eng": [" <em class=\"hilite\">femur</em> that causes the knees and feet to turn inward."], "definition_std": [" <em class=\"hilite\">femur</em> that causes the knees and feet to turn inward."]}, "HP:0006387": {"synonym_eng": ["Wide distal metaphysis of <em class=\"hilite\">femur</em>"], "definition_eng": ["Increased width of the distal part of the shaft (metaphysis) of the <em class=\"hilite\">femur</em>."], "synonym_std": ["Wide distal metaphysis of <em class=\"hilite\">femur</em>"], "definition_std": ["Increased width of the distal part of the shaft (metaphysis) of the <em class=\"hilite\">femur</em>."]}, "HP:0003090": {"definition_eng": ["Underdevelopment of the proximal epiphysis of the <em class=\"hilite\">femur</em>."], "definition_std": ["Underdevelopment of the proximal epiphysis of the <em class=\"hilite\">femur</em>."]}, "UBERON:0007119PHENOTYPE": {"label_std": ["neck of <em class=\"hilite\">femur</em> phenotype"], "definition_eng": ["Any phenotype involving neck of <em class=\"hilite\">femur</em>."], "label_eng": ["neck of <em class=\"hilite\">femur</em> phenotype"], "definition_std": ["Any phenotype involving neck of <em class=\"hilite\">femur</em>."]}, "MP:0013632": {"label_std": ["increased <em class=\"hilite\">femur</em> maximal load"], "definition_eng": ["increase in the maximal load (N) sustained by the <em class=\"hilite\">femur</em>"], "label_eng": ["increased <em class=\"hilite\">femur</em> maximal load"], "definition_std": ["increase in the maximal load (N) sustained by the <em class=\"hilite\">femur</em>"]}, "HP:0030772": {"definition_eng": [" of the <em class=\"hilite\">femur</em> with shortening of the entire limb."], "definition_std": [" the <em class=\"hilite\">femur</em> with shortening of the entire limb."]}, "UBERON:0006234PHENOTYPE": {"label_std": ["<em class=\"hilite\">femur</em> pre-cartilage condensation phenotype"], "definition_eng": ["Any phenotype involving <em class=\"hilite\">femur</em> pre-cartilage condensation."], "label_eng": ["<em class=\"hilite\">femur</em> pre-cartilage condensation phenotype"], "definition_std": ["Any phenotype involving <em class=\"hilite\">femur</em> pre-cartilage condensation."]}, "HP:0008784": {"definition_eng": ["Abnormally wide morphology of the proximal epiphysis of the <em class=\"hilite\">femur</em>."], "definition_std": ["Abnormally wide morphology of the proximal epiphysis of the <em class=\"hilite\">femur</em>."]}, "DOID:7602": {"definition_eng": [" the medullary portion of the bone. It affects the long bones and most commonly, the distal <em class=\"hilite\">femur</em>"], "definition_std": [" the medullary portion of the bone. It affects the long bones and most commonly, the distal <em class=\"hilite\">femur</em>"]}, "MP:0008905": {"definition_eng": ["any structural anomaly of the encapsulated adipose tissue associated with the <em class=\"hilite\">femur</em>"], "definition_std": ["any structural anomaly of the encapsulated adipose tissue associated with the <em class=\"hilite\">femur</em>"]}, "HP:0012106": {"definition_eng": ["Disproportionate shortening of the proximal segment of the leg (i.e. the <em class=\"hilite\">femur</em>)."], "definition_std": ["Disproportionate shortening of the proximal segment of the leg (i.e. the <em class=\"hilite\">femur</em>)."]}, "MP:0013625": {"label_std": ["increased <em class=\"hilite\">femur</em> yield load"], "definition_eng": ["increase in load (N) on the <em class=\"hilite\">femur</em> at which elastic deformation ends"], "label_eng": ["increased <em class=\"hilite\">femur</em> yield load"], "definition_std": ["increase in load (N) on the <em class=\"hilite\">femur</em> at which elastic deformation ends"]}, "OMIM:615612": {"definition_eng": [" formation of the acetabulum leading to dislocation of the <em class=\"hilite\">femur</em>, suboptimal joint function, and accelerated"], "definition_std": [" formation of the acetabulum leading to dislocation of the <em class=\"hilite\">femur</em>, suboptimal joint function, and accelerated"]}, "MP:0013624": {"label_std": ["decreased <em class=\"hilite\">femur</em> compact bone thickness"], "synonym_eng": ["decreased <em class=\"hilite\">femur</em> cortical bone morphology thickness", "reduced <em class=\"hilite\">femur</em> lamellar bone thickness", "reduced <em class=\"hilite\">femur</em> dense bone thickness", "decreased <em class=\"hilite\">femur</em> dense bone thickness", "reduced <em class=\"hilite\">femur</em> cortical bone morphology thickness", "decreased <em class=\"hilite\">femur</em> lamellar bone thickness"], "synonym_std": ["decreased <em class=\"hilite\">femur</em> cortical bone morphology thickness", "reduced <em class=\"hilite\">femur</em> lamellar bone thickness", "reduced <em class=\"hilite\">femur</em> dense bone thickness", "decreased <em class=\"hilite\">femur</em> dense bone thickness", "reduced <em class=\"hilite\">femur</em> cortical bone morphology thickness", "decreased <em class=\"hilite\">femur</em> lamellar bone thickness"], "definition_eng": ["reduced width of the superficial layer of compact bone at the midpoint of the <em class=\"hilite\">femur</em>"], "label_eng": ["decreased <em class=\"hilite\">femur</em> compact bone thickness"], "definition_std": ["reduced width of the superficial layer of compact bone at the midpoint of the <em class=\"hilite\">femur</em>"]}, "HP:0030295": {"label_std": ["Metaphyseal chondromatosis of <em class=\"hilite\">femur</em>"], "label_eng": ["Metaphyseal chondromatosis of <em class=\"hilite\">femur</em>"]}, "HP:0010590": {"definition_eng": ["Any abnormality of the distal epiphysis of the <em class=\"hilite\">femur</em>."], "definition_std": ["Any abnormality of the distal epiphysis of the <em class=\"hilite\">femur</em>."]}, "HP:0003184": {"definition_eng": ["Reduced ability to move the <em class=\"hilite\">femur</em> outward to the side."], "definition_std": ["Reduced ability to move the <em class=\"hilite\">femur</em> outward to the side."]}, "OMIA:000473-9986": {"label_std": ["Luxate <em class=\"hilite\">femur</em>"], "label_eng": ["Luxate <em class=\"hilite\">femur</em>"]}, "HP:0008905": {"definition_eng": ["Disproportionate shortening of the proximal segment of limbs (i.e. the <em class=\"hilite\">femur</em> and humerus)."], "definition_std": ["Disproportionate shortening of the proximal segment of limbs (i.e. the <em class=\"hilite\">femur</em> and humerus)."]}, "MP:0009291": {"definition_eng": ["less than average weight of the encapsulated adipose tissue associated with the <em class=\"hilite\">femur</em>"], "definition_std": ["less than average weight of the encapsulated adipose tissue associated with the <em class=\"hilite\">femur</em>"]}, "HP:0006431": {"definition_eng": ["An anomaly of the metaphysis of the proximal <em class=\"hilite\">femur</em> (close to the hip)."], "definition_std": ["An anomaly of the metaphysis of the proximal <em class=\"hilite\">femur</em> (close to the hip)."]}, "MP:0009005": {"definition_eng": ["any structural anomaly of the small sesamoid bones situated behind the condyles of the <em class=\"hilite\">femur</em>"], "definition_std": ["any structural anomaly of the small sesamoid bones situated behind the condyles of the <em class=\"hilite\">femur</em>"]}, "GeneReviews:NBK1270": {"definition_eng": [" (PBD), is characterized by proximal shortening of the humerus and to a lesser degree the <em class=\"hilite\">femur</em>"], "definition_std": [" (PBD), is characterized by proximal shortening of the humerus and to a lesser degree the <em class=\"hilite\">femur</em>"]}, "MP:0004627": {"definition_eng": ["any structural anomaly of the bony prominences near the upper extremity of the <em class=\"hilite\">femur</em>; there are two"], "definition_std": ["any structural anomaly of the bony prominences near the upper extremity of the <em class=\"hilite\">femur</em>; there are two"]}, "HP:0005613": {"label_std": ["Aplasia/hypoplasia of the <em class=\"hilite\">femur</em>"], "definition_eng": ["Absence or underdevelopment of the <em class=\"hilite\">femur</em>."], "label_eng": ["Aplasia/hypoplasia of the <em class=\"hilite\">femur</em>"], "definition_std": ["Absence or underdevelopment of the <em class=\"hilite\">femur</em>."]}, "GeneReviews:NBK1366": {"definition_eng": [" perinatal period. TD is divided into type I, characterized by micromelia with bowed <em class=\"hilite\">femurs</em> and, uncommonly", " II, characterized by micromelia with straight <em class=\"hilite\">femurs</em> and uniform presence of moderate-to-severe cloverleaf skull"]}, "HP:0003371": {"definition_eng": ["An abnormal enlargement of the proximal epiphysis of the <em class=\"hilite\">femur</em>."], "definition_std": ["An abnormal enlargement of the proximal epiphysis of the <em class=\"hilite\">femur</em>."]}, "VT:0005353": {"definition_eng": [" of the large sesamoid bone that articulates with the <em class=\"hilite\">femur</em> and, in some species, covers the anterior"], "definition_std": [" the large sesamoid bone that articulates with the <em class=\"hilite\">femur</em> and, in some species, covers the anterior"]}, "HP:0031163": {"synonym_eng": ["Low <em class=\"hilite\">femur</em> bone density"], "definition_eng": ["Reduced bone mineral density of the <em class=\"hilite\">femur</em>."], "synonym_std": ["Low <em class=\"hilite\">femur</em> bone density"], "definition_std": ["Reduced bone mineral density of the <em class=\"hilite\">femur</em>."]}, "UBERON:0006863PHENOTYPE": {"label_std": ["proximal metaphysis of <em class=\"hilite\">femur</em> phenotype"], "definition_eng": ["Any phenotype involving proximal metaphysis of <em class=\"hilite\">femur</em>."], "label_eng": ["proximal metaphysis of <em class=\"hilite\">femur</em> phenotype"], "definition_std": ["Any phenotype involving proximal metaphysis of <em class=\"hilite\">femur</em>."]}, "HP:0030289": {"definition_eng": ["An abnormal flattening of an epiphysis of <em class=\"hilite\">femur</em>."], "definition_std": ["An abnormal flattening of an epiphysis of <em class=\"hilite\">femur</em>."]}, "Orphanet:3312": {"definition_eng": [" of humerus and/or forearm, <em class=\"hilite\">femur</em> and/or lower leg, thumb anomalies). Other anomalies include facial"], "definition_std": [" humerus and/or forearm, <em class=\"hilite\">femur</em> and/or lower leg, thumb anomalies). Other anomalies include facial"]}, "UBERON:0006864PHENOTYPE": {"label_std": ["distal metaphysis of <em class=\"hilite\">femur</em> phenotype"], "definition_eng": ["Any phenotype involving distal metaphysis of <em class=\"hilite\">femur</em>."], "label_eng": ["distal metaphysis of <em class=\"hilite\">femur</em> phenotype"], "definition_std": ["Any phenotype involving distal metaphysis of <em class=\"hilite\">femur</em>."]}, "MP:0020009": {"label_std": ["abnormal bone mineral density of <em class=\"hilite\">femur</em>"], "synonym_eng": ["abnormal BMD of <em class=\"hilite\">femur</em>", "abnormal <em class=\"hilite\">femur</em> bone mineral density"], "label_eng": ["abnormal bone mineral density of <em class=\"hilite\">femur</em>"], "synonym_std": ["abnormal BMD of <em class=\"hilite\">femur</em>", "abnormal <em class=\"hilite\">femur</em> bone mineral density"]}, "MESH:D015831": {"definition_eng": [" of the distal <em class=\"hilite\">femur</em>, proximal tibia, or proximal humerus. Osteochondroma is the most common of benign"], "definition_std": [" the distal <em class=\"hilite\">femur</em>, proximal tibia, or proximal humerus. Osteochondroma is the most common of benign"]}, "MP:0003856": {"definition_eng": ["any structural anomaly of the proximal element of the hindlimb including the <em class=\"hilite\">femur</em>"], "definition_std": ["any structural anomaly of the proximal element of the hindlimb including the <em class=\"hilite\">femur</em>"]}, "AQTLTrait:2162": {"label_std": ["<em class=\"hilite\">Femur</em> bending strength"], "label_eng": ["<em class=\"hilite\">Femur</em> bending strength"]}, "HP:0006499": {"definition_eng": ["An anomaly of a growth plate of a <em class=\"hilite\">femur</em>."], "definition_std": ["An anomaly of a growth plate of a <em class=\"hilite\">femur</em>."]}, "OMIM:187600": {"definition_eng": [" of curved as opposed to straight <em class=\"hilite\">femurs</em>; patients with straight, relatively long <em class=\"hilite\">femurs</em> always had", " <em class=\"hilite\">femurs</em> with or without cloverleaf skull were designated TD type I (TD1) ({28:Langer et al., 1987}).", " <em class=\"hilite\">femurs</em>, micromelia, narrow thorax, and brachydactyly."]}, "HP:0005743": {"definition_eng": ["Avascular necrosis of the proximal epiphysis of the <em class=\"hilite\">femur</em> occurring in growing children and caused", " by an interruption of the blood supply to the head of the <em class=\"hilite\">femur</em> close to the hip joint. The necrosis"], "definition_std": ["Avascular necrosis of the proximal epiphysis of the <em class=\"hilite\">femur</em> occurring in growing children and caused", " by an interruption of the blood supply to the head of the <em class=\"hilite\">femur</em> close to the hip joint. The necrosis"]}, "UBERON:0010129PHENOTYPE": {"label_std": ["<em class=\"hilite\">femur</em> cartilage element phenotype"], "definition_eng": ["Any phenotype involving <em class=\"hilite\">femur</em> cartilage element."], "label_eng": ["<em class=\"hilite\">femur</em> cartilage element phenotype"], "definition_std": ["Any phenotype involving <em class=\"hilite\">femur</em> cartilage element."]}, "VT:0004371": {"label_std": ["<em class=\"hilite\">femur</em> curvature trait"], "label_eng": ["<em class=\"hilite\">femur</em> curvature trait"]}, "AQTLTrait:2161": {"label_std": ["<em class=\"hilite\">Femur</em> length"], "label_eng": ["<em class=\"hilite\">Femur</em> length"]}, "MP:0013626": {"label_std": ["decreased <em class=\"hilite\">femur</em> yield load"], "definition_eng": ["decrease in load (N) on the <em class=\"hilite\">femur</em> at which elastic deformation ends"], "label_eng": ["decreased <em class=\"hilite\">femur</em> yield load"], "definition_std": ["decrease in load (N) on the <em class=\"hilite\">femur</em> at which elastic deformation ends"]}, "HP:0005096": {"definition_eng": ["A bending or abnormal curvature of the distal portion of the <em class=\"hilite\">femur</em>."], "definition_std": ["A bending or abnormal curvature of the distal portion of the <em class=\"hilite\">femur</em>."]}, "UBERON:0009984PHENOTYPE": {"label_std": ["medial condyle of <em class=\"hilite\">femur</em> phenotype"], "definition_eng": ["Any phenotype involving medial condyle of <em class=\"hilite\">femur</em>."], "label_eng": ["medial condyle of <em class=\"hilite\">femur</em> phenotype"], "definition_std": ["Any phenotype involving medial condyle of <em class=\"hilite\">femur</em>."]}, "HP:0005005": {"definition_eng": ["Congenital onset bending or abnormal curvature of the <em class=\"hilite\">femur</em> that normalizes with age."], "definition_std": ["Congenital onset bending or abnormal curvature of the <em class=\"hilite\">femur</em> that normalizes with age."]}, "MP:0013637": {"label_std": ["increased <em class=\"hilite\">femur</em> stiffness"], "definition_eng": ["increase in material stiffness (N/mm) during elastic deformation in the <em class=\"hilite\">femur</em>"], "label_eng": ["increased <em class=\"hilite\">femur</em> stiffness"], "definition_std": ["increase in material stiffness (N/mm) during elastic deformation in the <em class=\"hilite\">femur</em>"]}, "FBbt:00004667PHENOTYPE": {"label_std": ["prothoracic <em class=\"hilite\">femur</em> phenotype", "Drosophila prothoracic <em class=\"hilite\">femur</em> phenotype"], "label_eng": ["prothoracic <em class=\"hilite\">femur</em> phenotype", "Drosophila prothoracic <em class=\"hilite\">femur</em> phenotype"]}, "Orphanet:85197": {"definition_eng": [" of the humerus, and lower end of the <em class=\"hilite\">femur</em>. Lesions are bilateral and symmetrical. It has been described"], "definition_std": [" of the humerus, and lower end of the <em class=\"hilite\">femur</em>. Lesions are bilateral and symmetrical. It has been"]}, "Orphanet:93398": {"definition_eng": [" clavicles and symmetrical generalized metaphyseal enchondromas particularly in the distal <em class=\"hilite\">femur</em>, proximal"], "definition_std": [" clavicles and symmetrical generalized metaphyseal enchondromas particularly in the distal <em class=\"hilite\">femur</em>, proximal"]}, "OMIM:251450": {"definition_eng": [" bones with metaphyseal splay, a 'Swedish key' appearance of the proximal <em class=\"hilite\">femur</em> (exaggerated trochanter"], "definition_std": [" short long bones with metaphyseal splay, a 'Swedish key' appearance of the proximal <em class=\"hilite\">femur</em> (exaggerated"]}, "HP:0002980": {"synonym_eng": ["Bowed <em class=\"hilite\">femurs</em>", "Bowed <em class=\"hilite\">femura</em>", "Bowed <em class=\"hilite\">femur</em>"], "definition_eng": ["Bowing (abnormal curvature) of the <em class=\"hilite\">femur</em>."], "synonym_std": ["Bowed <em class=\"hilite\">femur</em>"], "definition_std": ["Bowing (abnormal curvature) of the <em class=\"hilite\">femur</em>."]}, "UBERON:0015052PHENOTYPE": {"label_std": ["<em class=\"hilite\">femur</em> endochondral element phenotype"], "definition_eng": ["Any phenotype involving <em class=\"hilite\">femur</em> endochondral element."], "label_eng": ["<em class=\"hilite\">femur</em> endochondral element phenotype"], "definition_std": ["Any phenotype involving <em class=\"hilite\">femur</em> endochondral element."]}, "HP:0002644": {"definition_eng": [" to the <em class=\"hilite\">femurs</em>."]}, "HP:0006407": {"definition_eng": ["Anomaly of the contour of the Distal epiphysis of <em class=\"hilite\">femur</em> such that its normally smooth appearance"], "definition_std": ["Anomaly of the contour of the Distal epiphysis of <em class=\"hilite\">femur</em> such that its normally smooth appearance is"]}, "HP:0011428": {"label_std": ["Short fetal <em class=\"hilite\">femur</em> length"], "definition_eng": ["A short <em class=\"hilite\">femur</em> length is defined as either a measurement below the 2.5th percentile for gestational", " <em class=\"hilite\">femur</em> should be measured with the bone perpendicular to the ultrasound beam and with epiphyseal"], "label_eng": ["Short fetal <em class=\"hilite\">femur</em> length"], "definition_std": ["A short <em class=\"hilite\">femur</em> length is defined as either a measurement below the 2.5th percentile for gestational", " <em class=\"hilite\">femur</em> should be measured with the bone perpendicular to the ultrasound beam and with epiphyseal"]}, "OMIM:108720": {"definition_eng": [" characterized by distal hypoplasia of the humeri and <em class=\"hilite\">femurs</em>, hypoplasia of the midthoracic spine, occasionally"]}, "MP:0013633": {"label_std": ["decreased <em class=\"hilite\">femur</em> maximal load"], "definition_eng": ["decrease in the maximal load (N) sustained by the <em class=\"hilite\">femur</em>"], "label_eng": ["decreased <em class=\"hilite\">femur</em> maximal load"], "definition_std": ["decrease in the maximal load (N) sustained by the <em class=\"hilite\">femur</em>"]}, "AQTLTrait:2165": {"label_std": ["<em class=\"hilite\">Femur</em> endosteal circumference"], "label_eng": ["<em class=\"hilite\">Femur</em> endosteal circumference"]}, "HP:0002812": {"definition_eng": [" neck and the shaft of the <em class=\"hilite\">femur</em>) to less than 120 degrees."], "definition_std": [" neck and the shaft of the <em class=\"hilite\">femur</em>) to less than 120 degrees."]}, "MP:0013620": {"label_std": ["increased internal diameter of <em class=\"hilite\">femur</em>"], "synonym_eng": ["increased <em class=\"hilite\">femur</em> bone marrow cavity diameter", "increased <em class=\"hilite\">femur</em> medullary cavity diameter", "increased endosteal diameter of <em class=\"hilite\">femur</em>", "increased inner diameter of <em class=\"hilite\">femur</em>"], "synonym_std": ["increased <em class=\"hilite\">femur</em> bone marrow cavity diameter", "increased <em class=\"hilite\">femur</em> medullary cavity diameter", "increased endosteal diameter of <em class=\"hilite\">femur</em>", "increased inner diameter of <em class=\"hilite\">femur</em>"], "definition_eng": ["increased cross-sectional distance that extends from one lateral edge of the <em class=\"hilite\">femur</em> long bone marrow", " point of the <em class=\"hilite\">femur</em>"], "label_eng": ["increased internal diameter of <em class=\"hilite\">femur</em>"], "definition_std": ["increased cross-sectional distance that extends from one lateral edge of the <em class=\"hilite\">femur</em> long bone marrow", " point of the <em class=\"hilite\">femur</em>"]}, "Orphanet:399329": {"synonym_eng": ["Epiphysiolysis of the upper <em class=\"hilite\">femur</em>"], "synonym_std": ["Epiphysiolysis of the upper <em class=\"hilite\">femur</em>"]}, "AQTLTrait:2193": {"label_std": ["<em class=\"hilite\">Femur</em> weight"], "label_eng": ["<em class=\"hilite\">Femur</em> weight"]}, "DOID:5809": {"definition_eng": [".  It occurs in childhood and usually affects the distal posterior <em class=\"hilite\">femur</em>, the proximal tibia, and proximal"], "definition_std": [" occurs in childhood and usually affects the distal posterior <em class=\"hilite\">femur</em>, the proximal tibia, and proximal"]}, "HP:0003170": {"definition_eng": [" head of the <em class=\"hilite\">femur</em> forms the hip joint."], "definition_std": [" head of the <em class=\"hilite\">femur</em> forms the hip joint."]}, "HP:0012515": {"definition_eng": ["Reduced ability to flex the <em class=\"hilite\">femur</em>, that is, to pull the knee upward."], "definition_std": ["Reduced ability to flex the <em class=\"hilite\">femur</em>, that is, to pull the knee upward."]}, "VT:0004358": {"definition_eng": [" medial and larger of the two bones of the lower leg, which articulates with the <em class=\"hilite\">femur</em>, fibula, and talus."], "definition_std": [" medial and larger of the two bones of the lower leg, which articulates with the <em class=\"hilite\">femur</em>, fibula, and talus."]}, "HP:0010574": {"definition_eng": ["Any abnormality of the proximal epiphysis of the <em class=\"hilite\">femur</em>."], "definition_std": ["Any abnormality of the proximal epiphysis of the <em class=\"hilite\">femur</em>."]}, "OMIM:184252": {"definition_eng": [" dwarfism), scoliosis, metaphyseal abnormalities in the <em class=\"hilite\">femur</em> (prominent in the femoral neck and"], "definition_std": [" dwarfism), scoliosis, metaphyseal abnormalities in the <em class=\"hilite\">femur</em> (prominent in the femoral neck and"]}, "MP:0013646": {"label_std": ["decreased energy dissipated prior to <em class=\"hilite\">femur</em> fracture"], "definition_eng": [" fracture) by the <em class=\"hilite\">femur</em>"], "label_eng": ["decreased energy dissipated prior to <em class=\"hilite\">femur</em> fracture"], "definition_std": [" fracture) by the <em class=\"hilite\">femur</em>"]}, "UBERON:0004406PHENOTYPE": {"label_std": ["distal epiphysis of <em class=\"hilite\">femur</em> phenotype"], "definition_eng": ["Any phenotype involving distal epiphysis of <em class=\"hilite\">femur</em>."], "label_eng": ["distal epiphysis of <em class=\"hilite\">femur</em> phenotype"], "definition_std": ["Any phenotype involving distal epiphysis of <em class=\"hilite\">femur</em>."]}, "UBERON:0006865PHENOTYPE": {"label_std": ["metaphysis of <em class=\"hilite\">femur</em> phenotype"], "definition_eng": ["Any phenotype involving metaphysis of <em class=\"hilite\">femur</em>."], "label_eng": ["metaphysis of <em class=\"hilite\">femur</em> phenotype"], "definition_std": ["Any phenotype involving metaphysis of <em class=\"hilite\">femur</em>."]}, "DOID:13481": {"definition_eng": [" from each other by <em class=\"hilite\">femur</em> and skull shape."], "definition_std": [" from each other by <em class=\"hilite\">femur</em> and skull shape."]}, "MESH:D005271": {"label_std": ["<em class=\"hilite\">Femur</em> Head Necrosis"], "synonym_eng": ["Head Necrosis, <em class=\"hilite\">Femur</em>", "<em class=\"hilite\">Femur</em> Head Necroses", "Aseptic Necrosis of <em class=\"hilite\">Femur</em> Head", "Necrosis, Avascular, of <em class=\"hilite\">Femur</em> Head", "Necrosis, Aseptic, of <em class=\"hilite\">Femur</em> Head", "Necrosis, <em class=\"hilite\">Femur</em> Head", "Avascular Necrosis of <em class=\"hilite\">Femur</em> Head"], "label_eng": ["<em class=\"hilite\">Femur</em> Head Necrosis"], "synonym_std": ["Head Necrosis, <em class=\"hilite\">Femur</em>", "<em class=\"hilite\">Femur</em> Head Necroses", "Aseptic Necrosis of <em class=\"hilite\">Femur</em> Head", "Necrosis, Avascular, of <em class=\"hilite\">Femur</em> Head", "Necrosis, Aseptic, of <em class=\"hilite\">Femur</em> Head", "Necrosis, <em class=\"hilite\">Femur</em> Head", "Avascular Necrosis of <em class=\"hilite\">Femur</em> Head"]}, "HP:0006406": {"label_std": ["Club-shaped proximal <em class=\"hilite\">femur</em>"], "definition_eng": ["An abnormal conformation of the <em class=\"hilite\">femur</em> that becomes gradually enlarged towards the proximal end"], "label_eng": ["Club-shaped proximal <em class=\"hilite\">femur</em>"], "definition_std": ["An abnormal conformation of the <em class=\"hilite\">femur</em> that becomes gradually enlarged towards the proximal end"]}, "HP:0005090": {"definition_eng": ["A lateral bending or abnormal curvature of the <em class=\"hilite\">femur</em>."], "definition_std": ["A lateral bending or abnormal curvature of the <em class=\"hilite\">femur</em>."]}, "HP:0031068": {"definition_eng": [" proximal and distal parts of the <em class=\"hilite\">femur</em> on the transverse plane. Femoral anteversion averages between"], "definition_std": [" proximal and distal parts of the <em class=\"hilite\">femur</em> on the transverse plane. Femoral anteversion averages between 30-40"]}, "HP:0008800": {"definition_eng": ["A decreased ability to move the <em class=\"hilite\">femur</em> at the hip joint associated with a decreased range of motion"], "definition_std": ["A decreased ability to move the <em class=\"hilite\">femur</em> at the hip joint associated with a decreased range of motion"]}, "OMIM:182260": {"definition_eng": ["A developmental deformity in which the metaphysis of the <em class=\"hilite\">FEMUR</em> moves proximally and anteriorly away", " from <em class=\"hilite\">FEMUR</em> HEAD (epiphysis) at the upper GROWTH PLATE. It is most common in male adolescents and"], "definition_std": ["A developmental deformity in which the metaphysis of the <em class=\"hilite\">FEMUR</em> moves proximally and anteriorly away", " from <em class=\"hilite\">FEMUR</em> HEAD (epiphysis) at the upper GROWTH PLATE. It is most common in male adolescents and is"]}, "FBbt:00004689PHENOTYPE": {"label_std": ["Drosophila mesothoracic <em class=\"hilite\">femur</em> phenotype", "mesothoracic <em class=\"hilite\">femur</em> phenotype"], "label_eng": ["Drosophila mesothoracic <em class=\"hilite\">femur</em> phenotype", "mesothoracic <em class=\"hilite\">femur</em> phenotype"]}, "UBERON:0004412PHENOTYPE": {"label_std": ["proximal epiphysis of <em class=\"hilite\">femur</em> phenotype"], "definition_eng": ["Any phenotype involving proximal epiphysis of <em class=\"hilite\">femur</em>."], "label_eng": ["proximal epiphysis of <em class=\"hilite\">femur</em> phenotype"], "definition_std": ["Any phenotype involving proximal epiphysis of <em class=\"hilite\">femur</em>."]}, "MP:0009290": {"definition_eng": ["greater than average weight of the encapsulated adipose tissue associated with the <em class=\"hilite\">femur</em>"], "definition_std": ["greater than average weight of the encapsulated adipose tissue associated with the <em class=\"hilite\">femur</em>"]}, "Orphanet:1040": {"definition_eng": [", widening and marginal blurring) in long bones, most prominent in proximal <em class=\"hilite\">femurs</em>, and generalized"]}, "HP:0003411": {"definition_eng": ["Irregularity of the normally smooth surface of the proximal metaphysis of the <em class=\"hilite\">femur</em>."], "definition_std": ["Irregularity of the normally smooth surface of the proximal metaphysis of the <em class=\"hilite\">femur</em>."]}, "OBO:NCIT_C121930": {"definition_eng": [" involvement.  The <em class=\"hilite\">femur</em>, spine, and pelvic bones are the most frequently affected areas.  The majority"], "definition_std": [" involvement.  The <em class=\"hilite\">femur</em>, spine, and pelvic bones are the most frequently affected areas.  The majority of"]}, "UBERON:0004384PHENOTYPE": {"label_std": ["epiphysis of <em class=\"hilite\">femur</em> phenotype"], "definition_eng": ["Any phenotype involving epiphysis of <em class=\"hilite\">femur</em>."], "label_eng": ["epiphysis of <em class=\"hilite\">femur</em> phenotype"], "definition_std": ["Any phenotype involving epiphysis of <em class=\"hilite\">femur</em>."]}, "DOID:6759": {"definition_eng": [", without lymph node or other extranodal involvement.  The <em class=\"hilite\">femur</em>, spine, and pelvic bones are the most"], "definition_std": [", without lymph node or other extranodal involvement.  The <em class=\"hilite\">femur</em>, spine, and pelvic bones are the most"]}, "HP:0006461": {"definition_eng": [" epiphysis of the <em class=\"hilite\">femur</em> onto the metaphysis (femoral neck), occurring through the physeal plate during the"], "definition_std": [" epiphysis of the <em class=\"hilite\">femur</em> onto the metaphysis (femoral neck), occurring through the physeal plate during the"]}, "DOID:3373": {"definition_eng": [". It usually affects the distal posterior <em class=\"hilite\">femur</em>, the proximal tibia, and proximal humerus. Painless swelling"], "definition_std": [" usually affects the distal posterior <em class=\"hilite\">femur</em>, the proximal tibia, and proximal humerus. Painless swelling is"]}, "HP:0031069": {"definition_eng": [" proximal and distal parts of the <em class=\"hilite\">femur</em> on the transverse plane. Femoral anteversion averages between"], "definition_std": [" proximal and distal parts of the <em class=\"hilite\">femur</em> on the transverse plane. Femoral anteversion averages between 30-40"]}, "HP:0012283": {"definition_eng": ["Reduced size of the Distal epiphysis of <em class=\"hilite\">femur</em>."], "definition_std": ["Reduced size of the Distal epiphysis of <em class=\"hilite\">femur</em>."]}}, "docs": [{"synonym": ["thin femur", "decreased outer diameter of femur", "decreased periosteal diameter of femur", "reduced periosteal diameter of femur", "reduced outer diameter of femur", "reduced diameter of femur"], "equivalent_curie_eng": ["_:2d8fa5909584e9d608fb99cf2ca2ce18"], "leaf": true, "category_std": ["Phenotype"], "id_std": "MP:0008152", "iri": "http://purl.obolibrary.org/obo/MP_0008152", "equivalent_iri_kw": ["_:2d8fa5909584e9d608fb99cf2ca2ce18"], "label_eng": ["decreased diameter of femur"], "definition_std": ["reduced width of the cross-sectional distance that extends from one lateral edge of the femur, through its center and to the opposite lateral edge"], "id_eng": "MP:0008152", "definition_kw": ["reduced width of the cross-sectional distance that extends from one lateral edge of the femur, through its center and to the opposite lateral edge"], "equivalent_iri_std": ["_:2d8fa5909584e9d608fb99cf2ca2ce18"], "category_kw": ["Phenotype"], "iri_eng": "http://purl.obolibrary.org/obo/MP_0008152", "label_std": ["decreased diameter of femur"], "equivalent_curie": ["_:2d8fa5909584e9d608fb99cf2ca2ce18"], "equivalent_curie_kw": ["_:2d8fa5909584e9d608fb99cf2ca2ce18"], "synonym_eng": ["thin femur", "decreased outer diameter of femur", "decreased periosteal diameter of femur", "reduced periosteal diameter of femur", "reduced outer diameter of femur", "reduced diameter of femur"], "score": 36.92389, "id_kw": "MP:0008152", "equivalent_iri_eng": ["_:2d8fa5909584e9d608fb99cf2ca2ce18"], "label_kw": ["decreased diameter of femur"], "iri_kw": "http://purl.obolibrary.org/obo/MP_0008152", "equivalent_iri": ["_:2d8fa5909584e9d608fb99cf2ca2ce18"], "_version_": 1580845589011103745, "category_eng": ["Phenotype"], "iri_std": "http://purl.obolibrary.org/obo/MP_0008152", "id": "MP:0008152", "definition": ["reduced width of the cross-sectional distance that extends from one lateral edge of the femur, through its center and to the opposite lateral edge"], "synonym_kw": ["thin femur", "decreased outer diameter of femur", "decreased periosteal diameter of femur", "reduced periosteal diameter of femur", "reduced outer diameter of femur", "reduced diameter of femur"], "synonym_std": ["thin femur", "decreased outer diameter of femur", "decreased periosteal diameter of femur", "reduced periosteal diameter of femur", "reduced outer diameter of femur", "reduced diameter of femur"], "label": ["decreased diameter of femur"], "definition_eng": ["reduced width of the cross-sectional distance that extends from one lateral edge of the femur, through its center and to the opposite lateral edge"], "equivalent_curie_std": ["_:2d8fa5909584e9d608fb99cf2ca2ce18"], "category": ["Phenotype"]}, {"synonym": ["Bowed thighbone", "Bowed femurs", "Bowed femura", "Bowed femur"], "equivalent_curie_eng": ["_:c8500484de42b9ffbcd9b59c32c7b17d", "MP:0004371"], "leaf": false, "category_std": ["Phenotype"], "id_std": "HP:0002980", "iri": "http://purl.obolibrary.org/obo/HP_0002980", "equivalent_iri_kw": ["_:c8500484de42b9ffbcd9b59c32c7b17d", "http://purl.obolibrary.org/obo/MP_0004371"], "label_eng": ["Femoral bowing"], "definition_std": ["Bowing (abnormal curvature) of the femur."], "id_eng": "HP:0002980", "definition_kw": ["Bowing (abnormal curvature) of the femur."], "equivalent_iri_std": ["_:c8500484de42b9ffbcd9b59c32c7b17d", "http://purl.obolibrary.org/obo/MP_0004371"], "category_kw": ["Phenotype"], "iri_eng": "http://purl.obolibrary.org/obo/HP_0002980", "label_std": ["Femoral bowing"], "equivalent_curie": ["_:c8500484de42b9ffbcd9b59c32c7b17d", "MP:0004371"], "equivalent_curie_kw": ["_:c8500484de42b9ffbcd9b59c32c7b17d", "MP:0004371"], "synonym_eng": ["Bowed thighbone", "Bowed femurs", "Bowed femura", "Bowed femur"], "score": 36.434757, "id_kw": "HP:0002980", "equivalent_iri_eng": ["_:c8500484de42b9ffbcd9b59c32c7b17d", "http://purl.obolibrary.org/obo/MP_0004371"], "label_kw": ["Femoral bowing"], "iri_kw": "http://purl.obolibrary.org/obo/HP_0002980", "equivalent_iri": ["_:c8500484de42b9ffbcd9b59c32c7b17d", "http://purl.obolibrary.org/obo/MP_0004371"], "_version_": 1580845593182339072, "category_eng": ["Phenotype"], "iri_std": "http://purl.obolibrary.org/obo/HP_0002980", "id": "HP:0002980", "definition": ["Bowing (abnormal curvature) of the femur."], "synonym_kw": ["Bowed thighbone", "Bowed femurs", "Bowed femura", "Bowed femur"], "synonym_std": ["Bowed thighbone", "Bowed femurs", "Bowed femura", "Bowed femur"], "label": ["Femoral bowing"], "definition_eng": ["Bowing (abnormal curvature) of the femur."], "equivalent_curie_std": ["_:c8500484de42b9ffbcd9b59c32c7b17d", "MP:0004371"], "category": ["Phenotype"]}, {"synonym": ["thick femur", "increased outer diameter of femur", "increased periosteal diameter of femur"], "equivalent_curie_eng": ["_:4cf226119aec661c5d23b2b431e8d8d9"], "leaf": true, "category_std": ["Phenotype"], "id_std": "MP:0008158", "iri": "http://purl.obolibrary.org/obo/MP_0008158", "equivalent_iri_kw": ["_:4cf226119aec661c5d23b2b431e8d8d9"], "label_eng": ["increased diameter of femur"], "definition_std": ["increased width of the cross-sectional distance that extends from one lateral edge of the femur, through its center and to the opposite lateral edge"], "id_eng": "MP:0008158", "definition_kw": ["increased width of the cross-sectional distance that extends from one lateral edge of the femur, through its center and to the opposite lateral edge"], "equivalent_iri_std": ["_:4cf226119aec661c5d23b2b431e8d8d9"], "category_kw": ["Phenotype"], "iri_eng": "http://purl.obolibrary.org/obo/MP_0008158", "label_std": ["increased diameter of femur"], "equivalent_curie": ["_:4cf226119aec661c5d23b2b431e8d8d9"], "equivalent_curie_kw": ["_:4cf226119aec661c5d23b2b431e8d8d9"], "synonym_eng": ["thick femur", "increased outer diameter of femur", "increased periosteal diameter of femur"], "score": 36.434757, "id_kw": "MP:0008158", "equivalent_iri_eng": ["_:4cf226119aec661c5d23b2b431e8d8d9"], "label_kw": ["increased diameter of femur"], "iri_kw": "http://purl.obolibrary.org/obo/MP_0008158", "equivalent_iri": ["_:4cf226119aec661c5d23b2b431e8d8d9"], "_version_": 1580845588616839168, "category_eng": ["Phenotype"], "iri_std": "http://purl.obolibrary.org/obo/MP_0008158", "id": "MP:0008158", "definition": ["increased width of the cross-sectional distance that extends from one lateral edge of the femur, through its center and to the opposite lateral edge"], "synonym_kw": ["thick femur", "increased outer diameter of femur", "increased periosteal diameter of femur"], "synonym_std": ["thick femur", "increased outer diameter of femur", "increased periosteal diameter of femur"], "label": ["increased diameter of femur"], "definition_eng": ["increased width of the cross-sectional distance that extends from one lateral edge of the femur, through its center and to the opposite lateral edge"], "equivalent_curie_std": ["_:4cf226119aec661c5d23b2b431e8d8d9"], "category": ["Phenotype"]}, {"synonym": ["Head Necrosis, Femur", "Femur Head Necroses", "Avascular Necrosis Of Femoral Head, Primary", "Ischemic Necrosis Of Femoral Head", "Femoral Head, Avascular Necrosis Of", "Aseptic Necrosis of Femur Head", "Necrosis, Avascular, of Femur Head", "Necrosis, Aseptic, of Femur Head", "Necrosis, Femur Head", "Avascular Necrosis of Femur Head"], "equivalent_curie_eng": ["UMLS:C0015814"], "leaf": false, "category_std": ["disease"], "id_std": "MESH:D005271", "iri": "http://purl.obolibrary.org/obo/MESH_D005271", "equivalent_iri_kw": ["http://purl.obolibrary.org/obo/UMLS_C0015814"], "label_eng": ["Femur Head Necrosis"], "definition_std": ["Aseptic or avascular necrosis of the femoral head. The major types are idiopathic (primary), as a complication of fractures or dislocations, and LEGG-CALVE-PERTHES DISEASE."], "id_eng": "MESH:D005271", "definition_kw": ["Aseptic or avascular necrosis of the femoral head. The major types are idiopathic (primary), as a complication of fractures or dislocations, and LEGG-CALVE-PERTHES DISEASE."], "equivalent_iri_std": ["http://purl.obolibrary.org/obo/UMLS_C0015814"], "category_kw": ["disease"], "iri_eng": "http://purl.obolibrary.org/obo/MESH_D005271", "label_std": ["Femur Head Necrosis"], "equivalent_curie": ["UMLS:C0015814"], "equivalent_curie_kw": ["UMLS:C0015814"], "synonym_eng": ["Head Necrosis, Femur", "Femur Head Necroses", "Avascular Necrosis Of Femoral Head, Primary", "Ischemic Necrosis Of Femoral Head", "Femoral Head, Avascular Necrosis Of", "Aseptic Necrosis of Femur Head", "Necrosis, Avascular, of Femur Head", "Necrosis, Aseptic, of Femur Head", "Necrosis, Femur Head", "Avascular Necrosis of Femur Head"], "score": 36.258186, "id_kw": "MESH:D005271", "equivalent_iri_eng": ["http://purl.obolibrary.org/obo/UMLS_C0015814"], "label_kw": ["Femur Head Necrosis"], "iri_kw": "http://purl.obolibrary.org/obo/MESH_D005271", "equivalent_iri": ["http://purl.obolibrary.org/obo/UMLS_C0015814"], "_version_": 1580845554423824384, "category_eng": ["disease"], "iri_std": "http://purl.obolibrary.org/obo/MESH_D005271", "id": "MESH:D005271", "definition": ["Aseptic or avascular necrosis of the femoral head. The major types are idiopathic (primary), as a complication of fractures or dislocations, and LEGG-CALVE-PERTHES DISEASE."], "synonym_kw": ["Head Necrosis, Femur", "Femur Head Necroses", "Avascular Necrosis Of Femoral Head, Primary", "Ischemic Necrosis Of Femoral Head", "Femoral Head, Avascular Necrosis Of", "Aseptic Necrosis of Femur Head", "Necrosis, Avascular, of Femur Head", "Necrosis, Aseptic, of Femur Head", "Necrosis, Femur Head", "Avascular Necrosis of Femur Head"], "synonym_std": ["Head Necrosis, Femur", "Femur Head Necroses", "Avascular Necrosis Of Femoral Head, Primary", "Ischemic Necrosis Of Femoral Head", "Femoral Head, Avascular Necrosis Of", "Aseptic Necrosis of Femur Head", "Necrosis, Avascular, of Femur Head", "Necrosis, Aseptic, of Femur Head", "Necrosis, Femur Head", "Avascular Necrosis of Femur Head"], "label": ["Femur Head Necrosis"], "definition_eng": ["Aseptic or avascular necrosis of the femoral head. The major types are idiopathic (primary), as a complication of fractures or dislocations, and LEGG-CALVE-PERTHES DISEASE."], "equivalent_curie_std": ["UMLS:C0015814"], "category": ["disease"]}, {"synonym": ["increased femur bone marrow cavity diameter", "increased femur medullary cavity diameter", "increased endosteal diameter of femur", "increased inner diameter of femur"], "equivalent_curie_eng": ["_:66f50255329c2365fd2d32268285f647"], "leaf": true, "category_std": ["Phenotype"], "id_std": "MP:0013620", "iri": "http://purl.obolibrary.org/obo/MP_0013620", "equivalent_iri_kw": ["_:66f50255329c2365fd2d32268285f647"], "label_eng": ["increased internal diameter of femur"], "definition_std": ["increased cross-sectional distance that extends from one lateral edge of the femur long bone marrow cavity, through its center and to the opposite lateral edge of the bone marrow cavity through the mid point of the femur"], "id_eng": "MP:0013620", "definition_kw": ["increased cross-sectional distance that extends from one lateral edge of the femur long bone marrow cavity, through its center and to the opposite lateral edge of the bone marrow cavity through the mid point of the femur"], "equivalent_iri_std": ["_:66f50255329c2365fd2d32268285f647"], "category_kw": ["Phenotype"], "iri_eng": "http://purl.obolibrary.org/obo/MP_0013620", "label_std": ["increased internal diameter of femur"], "equivalent_curie": ["_:66f50255329c2365fd2d32268285f647"], "equivalent_curie_kw": ["_:66f50255329c2365fd2d32268285f647"], "synonym_eng": ["increased femur bone marrow cavity diameter", "increased femur medullary cavity diameter", "increased endosteal diameter of femur", "increased inner diameter of femur"], "score": 35.77984, "id_kw": "MP:0013620", "equivalent_iri_eng": ["_:66f50255329c2365fd2d32268285f647"], "label_kw": ["increased internal diameter of femur"], "iri_kw": "http://purl.obolibrary.org/obo/MP_0013620", "equivalent_iri": ["_:66f50255329c2365fd2d32268285f647"], "_version_": 1580845589718892547, "category_eng": ["Phenotype"], "iri_std": "http://purl.obolibrary.org/obo/MP_0013620", "id": "MP:0013620", "definition": ["increased cross-sectional distance that extends from one lateral edge of the femur long bone marrow cavity, through its center and to the opposite lateral edge of the bone marrow cavity through the mid point of the femur"], "synonym_kw": ["increased femur bone marrow cavity diameter", "increased femur medullary cavity diameter", "increased endosteal diameter of femur", "increased inner diameter of femur"], "synonym_std": ["increased femur bone marrow cavity diameter", "increased femur medullary cavity diameter", "increased endosteal diameter of femur", "increased inner diameter of femur"], "label": ["increased internal diameter of femur"], "definition_eng": ["increased cross-sectional distance that extends from one lateral edge of the femur long bone marrow cavity, through its center and to the opposite lateral edge of the bone marrow cavity through the mid point of the femur"], "equivalent_curie_std": ["_:66f50255329c2365fd2d32268285f647"], "category": ["Phenotype"]}, {"synonym": ["decreased femur cortical bone morphology thickness", "reduced femur lamellar bone thickness", "reduced femur dense bone thickness", "decreased femur dense bone thickness", "reduced femur cortical bone morphology thickness", "decreased femur lamellar bone thickness"], "equivalent_curie_eng": ["_:e04672a47778e9c2c919870ceaa00939"], "leaf": true, "category_std": ["Phenotype"], "id_std": "MP:0013624", "iri": "http://purl.obolibrary.org/obo/MP_0013624", "equivalent_iri_kw": ["_:e04672a47778e9c2c919870ceaa00939"], "label_eng": ["decreased femur compact bone thickness"], "definition_std": ["reduced width of the superficial layer of compact bone at the midpoint of the femur"], "id_eng": "MP:0013624", "definition_kw": ["reduced width of the superficial layer of compact bone at the midpoint of the femur"], "equivalent_iri_std": ["_:e04672a47778e9c2c919870ceaa00939"], "category_kw": ["Phenotype"], "iri_eng": "http://purl.obolibrary.org/obo/MP_0013624", "label_std": ["decreased femur compact bone thickness"], "equivalent_curie": ["_:e04672a47778e9c2c919870ceaa00939"], "equivalent_curie_kw": ["_:e04672a47778e9c2c919870ceaa00939"], "synonym_eng": ["decreased femur cortical bone morphology thickness", "reduced femur lamellar bone thickness", "reduced femur dense bone thickness", "decreased femur dense bone thickness", "reduced femur cortical bone morphology thickness", "decreased femur lamellar bone thickness"], "score": 35.302666, "id_kw": "MP:0013624", "equivalent_iri_eng": ["_:e04672a47778e9c2c919870ceaa00939"], "label_kw": ["decreased femur compact bone thickness"], "iri_kw": "http://purl.obolibrary.org/obo/MP_0013624", "equivalent_iri": ["_:e04672a47778e9c2c919870ceaa00939"], "_version_": 1580845585038049280, "category_eng": ["Phenotype"], "iri_std": "http://purl.obolibrary.org/obo/MP_0013624", "id": "MP:0013624", "definition": ["reduced width of the superficial layer of compact bone at the midpoint of the femur"], "synonym_kw": ["decreased femur cortical bone morphology thickness", "reduced femur lamellar bone thickness", "reduced femur dense bone thickness", "decreased femur dense bone thickness", "reduced femur cortical bone morphology thickness", "decreased femur lamellar bone thickness"], "synonym_std": ["decreased femur cortical bone morphology thickness", "reduced femur lamellar bone thickness", "reduced femur dense bone thickness", "decreased femur dense bone thickness", "reduced femur cortical bone morphology thickness", "decreased femur lamellar bone thickness"], "label": ["decreased femur compact bone thickness"], "definition_eng": ["reduced width of the superficial layer of compact bone at the midpoint of the femur"], "equivalent_curie_std": ["_:e04672a47778e9c2c919870ceaa00939"], "category": ["Phenotype"]}, {"synonym": ["increased femur dense bone thickness", "increased femur lamellar bone thickness", "increased femur cortical bone morphology thickness"], "equivalent_curie_eng": ["_:f0e06f2cd0f2a8bb46c09eb9b2bef9d7"], "leaf": true, "category_std": ["Phenotype"], "id_std": "MP:0013623", "iri": "http://purl.obolibrary.org/obo/MP_0013623", "equivalent_iri_kw": ["_:f0e06f2cd0f2a8bb46c09eb9b2bef9d7"], "label_eng": ["increased femur compact bone thickness"], "definition_std": ["increased width of the superficial layer of compact bone at the midpoint of the femur"], "id_eng": "MP:0013623", "definition_kw": ["increased width of the superficial layer of compact bone at the midpoint of the femur"], "equivalent_iri_std": ["_:f0e06f2cd0f2a8bb46c09eb9b2bef9d7"], "category_kw": ["Phenotype"], "iri_eng": "http://purl.obolibrary.org/obo/MP_0013623", "label_std": ["increased femur compact bone thickness"], "equivalent_curie": ["_:f0e06f2cd0f2a8bb46c09eb9b2bef9d7"], "equivalent_curie_kw": ["_:f0e06f2cd0f2a8bb46c09eb9b2bef9d7"], "synonym_eng": ["increased femur dense bone thickness", "increased femur lamellar bone thickness", "increased femur cortical bone morphology thickness"], "score": 34.97589, "id_kw": "MP:0013623", "equivalent_iri_eng": ["_:f0e06f2cd0f2a8bb46c09eb9b2bef9d7"], "label_kw": ["increased femur compact bone thickness"], "iri_kw": "http://purl.obolibrary.org/obo/MP_0013623", "equivalent_iri": ["_:f0e06f2cd0f2a8bb46c09eb9b2bef9d7"], "_version_": 1580845590044999681, "category_eng": ["Phenotype"], "iri_std": "http://purl.obolibrary.org/obo/MP_0013623", "id": "MP:0013623", "definition": ["increased width of the superficial layer of compact bone at the midpoint of the femur"], "synonym_kw": ["increased femur dense bone thickness", "increased femur lamellar bone thickness", "increased femur cortical bone morphology thickness"], "synonym_std": ["increased femur dense bone thickness", "increased femur lamellar bone thickness", "increased femur cortical bone morphology thickness"], "label": ["increased femur compact bone thickness"], "definition_eng": ["increased width of the superficial layer of compact bone at the midpoint of the femur"], "equivalent_curie_std": ["_:f0e06f2cd0f2a8bb46c09eb9b2bef9d7"], "category": ["Phenotype"]}, {"synonym": ["abnormal femur dense bone thickness", "abnormal femur lamellar bone thickness", "abnormal femur cortical bone morphology thickness"], "equivalent_curie_eng": ["_:c78516af691e86259d42ed6eaa7a2eec"], "leaf": false, "category_std": ["Phenotype"], "id_std": "MP:0013622", "iri": "http://purl.obolibrary.org/obo/MP_0013622", "equivalent_iri_kw": ["_:c78516af691e86259d42ed6eaa7a2eec"], "label_eng": ["abnormal femur compact bone thickness"], "definition_std": ["reduced or increased width of the superficial layer of compact bone at the midpoint of the femur"], "id_eng": "MP:0013622", "definition_kw": ["reduced or increased width of the superficial layer of compact bone at the midpoint of the femur"], "equivalent_iri_std": ["_:c78516af691e86259d42ed6eaa7a2eec"], "category_kw": ["Phenotype"], "iri_eng": "http://purl.obolibrary.org/obo/MP_0013622", "label_std": ["abnormal femur compact bone thickness"], "equivalent_curie": ["_:c78516af691e86259d42ed6eaa7a2eec"], "equivalent_curie_kw": ["_:c78516af691e86259d42ed6eaa7a2eec"], "synonym_eng": ["abnormal femur dense bone thickness", "abnormal femur lamellar bone thickness", "abnormal femur cortical bone morphology thickness"], "score": 34.97589, "id_kw": "MP:0013622", "equivalent_iri_eng": ["_:c78516af691e86259d42ed6eaa7a2eec"], "label_kw": ["abnormal femur compact bone thickness"], "iri_kw": "http://purl.obolibrary.org/obo/MP_0013622", "equivalent_iri": ["_:c78516af691e86259d42ed6eaa7a2eec"], "_version_": 1580845612866207747, "category_eng": ["Phenotype"], "iri_std": "http://purl.obolibrary.org/obo/MP_0013622", "id": "MP:0013622", "definition": ["reduced or increased width of the superficial layer of compact bone at the midpoint of the femur"], "synonym_kw": ["abnormal femur dense bone thickness", "abnormal femur lamellar bone thickness", "abnormal femur cortical bone morphology thickness"], "synonym_std": ["abnormal femur dense bone thickness", "abnormal femur lamellar bone thickness", "abnormal femur cortical bone morphology thickness"], "label": ["abnormal femur compact bone thickness"], "definition_eng": ["reduced or increased width of the superficial layer of compact bone at the midpoint of the femur"], "equivalent_curie_std": ["_:c78516af691e86259d42ed6eaa7a2eec"], "category": ["Phenotype"]}, {"synonym": ["Aplasia of the femur", "Absent femur", "Absent thighbone"], "equivalent_curie_eng": ["_:130b6c73fdb263b7ab08be006dc261a0", "MP:0004349"], "leaf": true, "category_std": ["Phenotype"], "id_std": "HP:0012744", "iri": "http://purl.obolibrary.org/obo/HP_0012744", "equivalent_iri_kw": ["_:130b6c73fdb263b7ab08be006dc261a0", "http://purl.obolibrary.org/obo/MP_0004349"], "label_eng": ["Femoral aplasia"], "definition_std": ["Failure of the femur to develop."], "id_eng": "HP:0012744", "definition_kw": ["Failure of the femur to develop."], "equivalent_iri_std": ["_:130b6c73fdb263b7ab08be006dc261a0", "http://purl.obolibrary.org/obo/MP_0004349"], "category_kw": ["Phenotype"], "iri_eng": "http://purl.obolibrary.org/obo/HP_0012744", "label_std": ["Femoral aplasia"], "equivalent_curie": ["_:130b6c73fdb263b7ab08be006dc261a0", "MP:0004349"], "equivalent_curie_kw": ["_:130b6c73fdb263b7ab08be006dc261a0", "MP:0004349"], "synonym_eng": ["Aplasia of the femur", "Absent femur", "Absent thighbone"], "score": 34.86, "id_kw": "HP:0012744", "equivalent_iri_eng": ["_:130b6c73fdb263b7ab08be006dc261a0", "http://purl.obolibrary.org/obo/MP_0004349"], "label_kw": ["Femoral aplasia"], "iri_kw": "http://purl.obolibrary.org/obo/HP_0012744", "equivalent_iri": ["_:130b6c73fdb263b7ab08be006dc261a0", "http://purl.obolibrary.org/obo/MP_0004349"], "_version_": 1580845617339432961, "category_eng": ["Phenotype"], "iri_std": "http://purl.obolibrary.org/obo/HP_0012744", "id": "HP:0012744", "definition": ["Failure of the femur to develop."], "synonym_kw": ["Aplasia of the femur", "Absent femur", "Absent thighbone"], "synonym_std": ["Aplasia of the femur", "Absent femur", "Absent thighbone"], "label": ["Femoral aplasia"], "definition_eng": ["Failure of the femur to develop."], "equivalent_curie_std": ["_:130b6c73fdb263b7ab08be006dc261a0", "MP:0004349"], "category": ["Phenotype"]}, {"synonym": ["PFFD", "FFU complex", "Femur-fibula-ulna dysostosis", "Femur-fibula-ulna syndrome", "Femur-Fibula-Ulna Syndrome", "FEMUR-FIBULA-ULNA SYNDROME", "Ffu Syndrome"], "equivalent_curie_eng": ["Orphanet:2019", "UMLS:C1856790", "MESH:C537918"], "leaf": true, "category_std": ["disease"], "id_std": "OMIM:228200", "iri": "http://purl.obolibrary.org/obo/OMIM_228200", "equivalent_iri_kw": ["http://www.orpha.net/ORDO/Orphanet_2019", "http://purl.obolibrary.org/obo/UMLS_C1856790", "http://purl.obolibrary.org/obo/MESH_C537918"], "label_eng": ["Femur-Fibula-Ulna Syndrome", "Femur-fibula-ulna complex"], "definition_std": ["Femur-fibula-ulna (FFU) complex is a non-lethal congenital anomaly of unknown etiology, more frequently reported in males than females, characterized by a highly variable combination of defects of the femur, fibula, and/or ulna, with striking asymmetry, including absence of the proximal part of the femur, absence of the fibula and malformation of the ulnar side of the upper limb. Axial skeleton, internal organs and intellectual function are usually normal."], "id_eng": "OMIM:228200", "definition_kw": ["Femur-fibula-ulna (FFU) complex is a non-lethal congenital anomaly of unknown etiology, more frequently reported in males than females, characterized by a highly variable combination of defects of the femur, fibula, and/or ulna, with striking asymmetry, including absence of the proximal part of the femur, absence of the fibula and malformation of the ulnar side of the upper limb. Axial skeleton, internal organs and intellectual function are usually normal."], "equivalent_iri_std": ["http://www.orpha.net/ORDO/Orphanet_2019", "http://purl.obolibrary.org/obo/UMLS_C1856790", "http://purl.obolibrary.org/obo/MESH_C537918"], "category_kw": ["disease"], "iri_eng": "http://purl.obolibrary.org/obo/OMIM_228200", "label_std": ["Femur-Fibula-Ulna Syndrome", "Femur-fibula-ulna complex"], "equivalent_curie": ["Orphanet:2019", "UMLS:C1856790", "MESH:C537918"], "equivalent_curie_kw": ["Orphanet:2019", "UMLS:C1856790", "MESH:C537918"], "synonym_eng": ["PFFD", "FFU complex", "Femur-fibula-ulna dysostosis", "Femur-fibula-ulna syndrome", "Femur-Fibula-Ulna Syndrome", "FEMUR-FIBULA-ULNA SYNDROME", "Ffu Syndrome"], "score": 34.39547, "id_kw": "OMIM:228200", "equivalent_iri_eng": ["http://www.orpha.net/ORDO/Orphanet_2019", "http://purl.obolibrary.org/obo/UMLS_C1856790", "http://purl.obolibrary.org/obo/MESH_C537918"], "label_kw": ["Femur-Fibula-Ulna Syndrome", "Femur-fibula-ulna complex"], "iri_kw": "http://purl.obolibrary.org/obo/OMIM_228200", "equivalent_iri": ["http://www.orpha.net/ORDO/Orphanet_2019", "http://purl.obolibrary.org/obo/UMLS_C1856790", "http://purl.obolibrary.org/obo/MESH_C537918"], "_version_": 1580845550134099968, "category_eng": ["disease"], "iri_std": "http://purl.obolibrary.org/obo/OMIM_228200", "id": "OMIM:228200", "definition": ["Femur-fibula-ulna (FFU) complex is a non-lethal congenital anomaly of unknown etiology, more frequently reported in males than females, characterized by a highly variable combination of defects of the femur, fibula, and/or ulna, with striking asymmetry, including absence of the proximal part of the femur, absence of the fibula and malformation of the ulnar side of the upper limb. Axial skeleton, internal organs and intellectual function are usually normal."], "synonym_kw": ["PFFD", "FFU complex", "Femur-fibula-ulna dysostosis", "Femur-fibula-ulna syndrome", "Femur-Fibula-Ulna Syndrome", "FEMUR-FIBULA-ULNA SYNDROME", "Ffu Syndrome"], "synonym_std": ["PFFD", "FFU complex", "Femur-fibula-ulna dysostosis", "Femur-fibula-ulna syndrome", "Femur-Fibula-Ulna Syndrome", "FEMUR-FIBULA-ULNA SYNDROME", "Ffu Syndrome"], "label": ["Femur-Fibula-Ulna Syndrome", "Femur-fibula-ulna complex"], "definition_eng": ["Femur-fibula-ulna (FFU) complex is a non-lethal congenital anomaly of unknown etiology, more frequently reported in males than females, characterized by a highly variable combination of defects of the femur, fibula, and/or ulna, with striking asymmetry, including absence of the proximal part of the femur, absence of the fibula and malformation of the ulnar side of the upper limb. Axial skeleton, internal organs and intellectual function are usually normal."], "equivalent_curie_std": ["Orphanet:2019", "UMLS:C1856790", "MESH:C537918"], "category": ["disease"]}, {"synonym": ["decreased BMD of femur", "decreased femur bone mineral density"], "leaf": true, "category_std": ["Phenotype"], "id_std": "MP:0020010", "iri": "http://purl.obolibrary.org/obo/MP_0020010", "label_eng": ["decreased bone mineral density of femur"], "definition_std": ["reduction in the quatitative measurment value of mineral content of bone in the long bone of the thigh"], "id_eng": "MP:0020010", "definition_kw": ["reduction in the quatitative measurment value of mineral content of bone in the long bone of the thigh"], "category_kw": ["Phenotype"], "iri_eng": "http://purl.obolibrary.org/obo/MP_0020010", "label_std": ["decreased bone mineral density of femur"], "synonym_eng": ["decreased BMD of femur", "decreased femur bone mineral density"], "score": 33.762146, "id_kw": "MP:0020010", "label_kw": ["decreased bone mineral density of femur"], "iri_kw": "http://purl.obolibrary.org/obo/MP_0020010", "_version_": 1580845588792999938, "category_eng": ["Phenotype"], "iri_std": "http://purl.obolibrary.org/obo/MP_0020010", "id": "MP:0020010", "definition": ["reduction in the quatitative measurment value of mineral content of bone in the long bone of the thigh"], "synonym_kw": ["decreased BMD of femur", "decreased femur bone mineral density"], "synonym_std": ["decreased BMD of femur", "decreased femur bone mineral density"], "label": ["decreased bone mineral density of femur"], "definition_eng": ["reduction in the quatitative measurment value of mineral content of bone in the long bone of the thigh"], "category": ["Phenotype"]}, {"synonym": ["abnormal BMD of femur", "abnormal femur bone mineral density"], "leaf": false, "category_std": ["Phenotype"], "id_std": "MP:0020009", "iri": "http://purl.obolibrary.org/obo/MP_0020009", "label_eng": ["abnormal bone mineral density of femur"], "definition_std": ["anomaly in the quatitative measurment of mineral content of bone in the long bone of the thigh"], "id_eng": "MP:0020009", "definition_kw": ["anomaly in the quatitative measurment of mineral content of bone in the long bone of the thigh"], "category_kw": ["Phenotype"], "iri_eng": "http://purl.obolibrary.org/obo/MP_0020009", "label_std": ["abnormal bone mineral density of femur"], "synonym_eng": ["abnormal BMD of femur", "abnormal femur bone mineral density"], "score": 33.762146, "id_kw": "MP:0020009", "label_kw": ["abnormal bone mineral density of femur"], "iri_kw": "http://purl.obolibrary.org/obo/MP_0020009", "_version_": 1580845610106355717, "category_eng": ["Phenotype"], "iri_std": "http://purl.obolibrary.org/obo/MP_0020009", "id": "MP:0020009", "definition": ["anomaly in the quatitative measurment of mineral content of bone in the long bone of the thigh"], "synonym_kw": ["abnormal BMD of femur", "abnormal femur bone mineral density"], "synonym_std": ["abnormal BMD of femur", "abnormal femur bone mineral density"], "label": ["abnormal bone mineral density of femur"], "definition_eng": ["anomaly in the quatitative measurment of mineral content of bone in the long bone of the thigh"], "category": ["Phenotype"]}, {"synonym": ["FEMUR, UNILATERAL BIFID, WITH MONODACTYLOUS ECTRODACTYLY", "Gollop-Wolfgang Complex", "Bifid femur-monodactylous ectrodactyly syndrome"], "equivalent_curie_eng": ["Orphanet:1986"], "leaf": true, "category_std": ["disease"], "id_std": "OMIM:228250", "iri": "http://purl.obolibrary.org/obo/OMIM_228250", "equivalent_iri_kw": ["http://www.orpha.net/ORDO/Orphanet_1986"], "label_eng": ["Femur, Unilateral Bifid, With Monodactylous Ectrodactyly", "Gollop-Wolfgang complex"], "definition_std": ["Gollop-Wolfgang complex is a very rare malformation characterized by ectrodactyly of the hand and ipsilateral bifurcation of the femur."], "id_eng": "OMIM:228250", "definition_kw": ["Gollop-Wolfgang complex is a very rare malformation characterized by ectrodactyly of the hand and ipsilateral bifurcation of the femur."], "equivalent_iri_std": ["http://www.orpha.net/ORDO/Orphanet_1986"], "category_kw": ["disease"], "iri_eng": "http://purl.obolibrary.org/obo/OMIM_228250", "label_std": ["Femur, Unilateral Bifid, With Monodactylous Ectrodactyly", "Gollop-Wolfgang complex"], "equivalent_curie": ["Orphanet:1986"], "equivalent_curie_kw": ["Orphanet:1986"], "synonym_eng": ["FEMUR, UNILATERAL BIFID, WITH MONODACTYLOUS ECTRODACTYLY", "Gollop-Wolfgang Complex", "Bifid femur-monodactylous ectrodactyly syndrome"], "score": 31.911999, "id_kw": "OMIM:228250", "equivalent_iri_eng": ["http://www.orpha.net/ORDO/Orphanet_1986"], "label_kw": ["Femur, Unilateral Bifid, With Monodactylous Ectrodactyly", "Gollop-Wolfgang complex"], "iri_kw": "http://purl.obolibrary.org/obo/OMIM_228250", "equivalent_iri": ["http://www.orpha.net/ORDO/Orphanet_1986"], "_version_": 1580845549015269376, "category_eng": ["disease"], "iri_std": "http://purl.obolibrary.org/obo/OMIM_228250", "id": "OMIM:228250", "definition": ["Gollop-Wolfgang complex is a very rare malformation characterized by ectrodactyly of the hand and ipsilateral bifurcation of the femur."], "synonym_kw": ["FEMUR, UNILATERAL BIFID, WITH MONODACTYLOUS ECTRODACTYLY", "Gollop-Wolfgang Complex", "Bifid femur-monodactylous ectrodactyly syndrome"], "synonym_std": ["FEMUR, UNILATERAL BIFID, WITH MONODACTYLOUS ECTRODACTYLY", "Gollop-Wolfgang Complex", "Bifid femur-monodactylous ectrodactyly syndrome"], "label": ["Femur, Unilateral Bifid, With Monodactylous Ectrodactyly", "Gollop-Wolfgang complex"], "definition_eng": ["Gollop-Wolfgang complex is a very rare malformation characterized by ectrodactyly of the hand and ipsilateral bifurcation of the femur."], "equivalent_curie_std": ["Orphanet:1986"], "category": ["disease"]}, {"synonym": ["Spurring of femur"], "leaf": true, "category_std": ["Phenotype"], "id_std": "HP:0031171", "iri": "http://purl.obolibrary.org/obo/HP_0031171", "label_eng": ["Femoral spur"], "definition_std": ["A bony projection (spur, osteophyte) originating from the femur, often in the medial femoral neck."], "id_eng": "HP:0031171", "definition_kw": ["A bony projection (spur, osteophyte) originating from the femur, often in the medial femoral neck."], "category_kw": ["Phenotype"], "iri_eng": "http://purl.obolibrary.org/obo/HP_0031171", "label_std": ["Femoral spur"], "synonym_eng": ["Spurring of femur"], "score": 31.687965, "id_kw": "HP:0031171", "label_kw": ["Femoral spur"], "iri_kw": "http://purl.obolibrary.org/obo/HP_0031171", "_version_": 1580845609646030850, "category_eng": ["Phenotype"], "iri_std": "http://purl.obolibrary.org/obo/HP_0031171", "id": "HP:0031171", "definition": ["A bony projection (spur, osteophyte) originating from the femur, often in the medial femoral neck."], "synonym_kw": ["Spurring of femur"], "synonym_std": ["Spurring of femur"], "label": ["Femoral spur"], "definition_eng": ["A bony projection (spur, osteophyte) originating from the femur, often in the medial femoral neck."], "category": ["Phenotype"]}, {"synonym": ["Low femur bone density"], "leaf": true, "category_std": ["Phenotype"], "id_std": "HP:0031163", "iri": "http://purl.obolibrary.org/obo/HP_0031163", "label_eng": ["Low femoral bone density"], "definition_std": ["Reduced bone mineral density of the femur."], "id_eng": "HP:0031163", "definition_kw": ["Reduced bone mineral density of the femur."], "category_kw": ["Phenotype"], "iri_eng": "http://purl.obolibrary.org/obo/HP_0031163", "label_std": ["Low femoral bone density"], "synonym_eng": ["Low femur bone density"], "score": 30.848656, "id_kw": "HP:0031163", "label_kw": ["Low femoral bone density"], "iri_kw": "http://purl.obolibrary.org/obo/HP_0031163", "_version_": 1580845609656516608, "category_eng": ["Phenotype"], "iri_std": "http://purl.obolibrary.org/obo/HP_0031163", "id": "HP:0031163", "definition": ["Reduced bone mineral density of the femur."], "synonym_kw": ["Low femur bone density"], "synonym_std": ["Low femur bone density"], "label": ["Low femoral bone density"], "definition_eng": ["Reduced bone mineral density of the femur."], "category": ["Phenotype"]}, {"synonym": ["increased femur length"], "equivalent_curie_eng": ["_:1ee8aa2c3fa589befb9f65f7feae82fa"], "leaf": false, "category_std": ["Phenotype"], "id_std": "MP:0004348", "iri": "http://purl.obolibrary.org/obo/MP_0004348", "equivalent_iri_kw": ["_:1ee8aa2c3fa589befb9f65f7feae82fa"], "label_eng": ["long femur"], "definition_std": ["increased length of the long bone of the thigh"], "id_eng": "MP:0004348", "definition_kw": ["increased length of the long bone of the thigh"], "equivalent_iri_std": ["_:1ee8aa2c3fa589befb9f65f7feae82fa"], "category_kw": ["Phenotype"], "iri_eng": "http://purl.obolibrary.org/obo/MP_0004348", "label_std": ["long femur"], "equivalent_curie": ["_:1ee8aa2c3fa589befb9f65f7feae82fa"], "equivalent_curie_kw": ["_:1ee8aa2c3fa589befb9f65f7feae82fa"], "synonym_eng": ["increased femur length"], "score": 30.848656, "id_kw": "MP:0004348", "equivalent_iri_eng": ["_:1ee8aa2c3fa589befb9f65f7feae82fa"], "label_kw": ["long femur"], "iri_kw": "http://purl.obolibrary.org/obo/MP_0004348", "equivalent_iri": ["_:1ee8aa2c3fa589befb9f65f7feae82fa"], "_version_": 1580845563962720256, "category_eng": ["Phenotype"], "iri_std": "http://purl.obolibrary.org/obo/MP_0004348", "id": "MP:0004348", "definition": ["increased length of the long bone of the thigh"], "synonym_kw": ["increased femur length"], "synonym_std": ["increased femur length"], "label": ["long femur"], "definition_eng": ["increased length of the long bone of the thigh"], "equivalent_curie_std": ["_:1ee8aa2c3fa589befb9f65f7feae82fa"], "category": ["Phenotype"]}, {"equivalent_curie_eng": ["_:f4b6d1ee2e8253c8f1145a9819224171"], "leaf": false, "category_std": ["Phenotype"], "id_std": "FBbt:00004644PHENOTYPE", "iri": "http://purl.obolibrary.org/obo/FBbt_00004644PHENOTYPE", "equivalent_iri_kw": ["_:f4b6d1ee2e8253c8f1145a9819224171"], "label_eng": ["femur phenotype", "Drosophila femur phenotype"], "equivalent_curie_std": ["_:f4b6d1ee2e8253c8f1145a9819224171"], "id_eng": "FBbt:00004644PHENOTYPE", "equivalent_iri_std": ["_:f4b6d1ee2e8253c8f1145a9819224171"], "category_kw": ["Phenotype"], "iri_eng": "http://purl.obolibrary.org/obo/FBbt_00004644PHENOTYPE", "label_std": ["femur phenotype", "Drosophila femur phenotype"], "equivalent_curie": ["_:f4b6d1ee2e8253c8f1145a9819224171"], "equivalent_curie_kw": ["_:f4b6d1ee2e8253c8f1145a9819224171"], "score": 30.648533, "id_kw": "FBbt:00004644PHENOTYPE", "equivalent_iri_eng": ["_:f4b6d1ee2e8253c8f1145a9819224171"], "label_kw": ["femur phenotype", "Drosophila femur phenotype"], "iri_kw": "http://purl.obolibrary.org/obo/FBbt_00004644PHENOTYPE", "equivalent_iri": ["_:f4b6d1ee2e8253c8f1145a9819224171"], "_version_": 1580845601986183170, "category_eng": ["Phenotype"], "iri_std": "http://purl.obolibrary.org/obo/FBbt_00004644PHENOTYPE", "id": "FBbt:00004644PHENOTYPE", "label": ["femur phenotype", "Drosophila femur phenotype"], "category": ["Phenotype"]}, {"synonym": ["Femoral intercalary meromelia", "Congenital short femur"], "leaf": false, "category_std": ["disease"], "id_std": "Orphanet:1987", "iri": "http://www.orpha.net/ORDO/Orphanet_1987", "label_eng": ["Femoral agenesis/hypoplasia"], "definition_std": ["Congenital short femur is a rare malformation of variable severity ranging from mild hypoplasia to complete absence of the femur."], "id_eng": "Orphanet:1987", "definition_kw": ["Congenital short femur is a rare malformation of variable severity ranging from mild hypoplasia to complete absence of the femur."], "category_kw": ["disease"], "iri_eng": "http://www.orpha.net/ORDO/Orphanet_1987", "label_std": ["Femoral agenesis/hypoplasia"], "synonym_eng": ["Femoral intercalary meromelia", "Congenital short femur"], "score": 29.17891, "id_kw": "Orphanet:1987", "label_kw": ["Femoral agenesis/hypoplasia"], "iri_kw": "http://www.orpha.net/ORDO/Orphanet_1987", "_version_": 1580845608991719429, "category_eng": ["disease"], "iri_std": "http://www.orpha.net/ORDO/Orphanet_1987", "id": "Orphanet:1987", "definition": ["Congenital short femur is a rare malformation of variable severity ranging from mild hypoplasia to complete absence of the femur."], "synonym_kw": ["Femoral intercalary meromelia", "Congenital short femur"], "synonym_std": ["Femoral intercalary meromelia", "Congenital short femur"], "label": ["Femoral agenesis/hypoplasia"], "definition_eng": ["Congenital short femur is a rare malformation of variable severity ranging from mild hypoplasia to complete absence of the femur."], "category": ["disease"]}, {"synonym": ["Femoral head epiphysiolysis", "Epiphysiolysis of the upper femur"], "leaf": true, "category_std": ["disease"], "id_std": "Orphanet:399329", "iri": "http://www.orpha.net/ORDO/Orphanet_399329", "label_eng": ["Epiphysiolysis of the hip"], "id_eng": "Orphanet:399329", "category_kw": ["disease"], "iri_eng": "http://www.orpha.net/ORDO/Orphanet_399329", "label_std": ["Epiphysiolysis of the hip"], "synonym_eng": ["Femoral head epiphysiolysis", "Epiphysiolysis of the upper femur"], "score": 29.17891, "id_kw": "Orphanet:399329", "label_kw": ["Epiphysiolysis of the hip"], "iri_kw": "http://www.orpha.net/ORDO/Orphanet_399329", "_version_": 1580845612905005058, "category_eng": ["disease"], "iri_std": "http://www.orpha.net/ORDO/Orphanet_399329", "id": "Orphanet:399329", "synonym_kw": ["Femoral head epiphysiolysis", "Epiphysiolysis of the upper femur"], "synonym_std": ["Femoral head epiphysiolysis", "Epiphysiolysis of the upper femur"], "label": ["Epiphysiolysis of the hip"], "category": ["disease"]}, {"equivalent_curie_eng": ["_:449468eb4b8b98c8e8fb1701c351ef4a"], "leaf": false, "category_std": ["Phenotype"], "id_std": "FBbt:00004667PHENOTYPE", "iri": "http://purl.obolibrary.org/obo/FBbt_00004667PHENOTYPE", "equivalent_iri_kw": ["_:449468eb4b8b98c8e8fb1701c351ef4a"], "label_eng": ["prothoracic femur phenotype", "Drosophila prothoracic femur phenotype"], "equivalent_curie_std": ["_:449468eb4b8b98c8e8fb1701c351ef4a"], "id_eng": "FBbt:00004667PHENOTYPE", "equivalent_iri_std": ["_:449468eb4b8b98c8e8fb1701c351ef4a"], "category_kw": ["Phenotype"], "iri_eng": "http://purl.obolibrary.org/obo/FBbt_00004667PHENOTYPE", "label_std": ["prothoracic femur phenotype", "Drosophila prothoracic femur phenotype"], "equivalent_curie": ["_:449468eb4b8b98c8e8fb1701c351ef4a"], "equivalent_curie_kw": ["_:449468eb4b8b98c8e8fb1701c351ef4a"], "score": 28.611223, "id_kw": "FBbt:00004667PHENOTYPE", "equivalent_iri_eng": ["_:449468eb4b8b98c8e8fb1701c351ef4a"], "label_kw": ["prothoracic femur phenotype", "Drosophila prothoracic femur phenotype"], "iri_kw": "http://purl.obolibrary.org/obo/FBbt_00004667PHENOTYPE", "equivalent_iri": ["_:449468eb4b8b98c8e8fb1701c351ef4a"], "_version_": 1580845610636935168, "category_eng": ["Phenotype"], "iri_std": "http://purl.obolibrary.org/obo/FBbt_00004667PHENOTYPE", "id": "FBbt:00004667PHENOTYPE", "label": ["prothoracic femur phenotype", "Drosophila prothoracic femur phenotype"], "category": ["Phenotype"]}, {"equivalent_curie_eng": ["_:f321906edef1c274d8d56ef65e2bd2b1"], "leaf": false, "category_std": ["Phenotype"], "id_std": "FBbt:00004711PHENOTYPE", "iri": "http://purl.obolibrary.org/obo/FBbt_00004711PHENOTYPE", "equivalent_iri_kw": ["_:f321906edef1c274d8d56ef65e2bd2b1"], "label_eng": ["Drosophila metathoracic femur phenotype", "metathoracic femur phenotype"], "equivalent_curie_std": ["_:f321906edef1c274d8d56ef65e2bd2b1"], "id_eng": "FBbt:00004711PHENOTYPE", "equivalent_iri_std": ["_:f321906edef1c274d8d56ef65e2bd2b1"], "category_kw": ["Phenotype"], "iri_eng": "http://purl.obolibrary.org/obo/FBbt_00004711PHENOTYPE", "label_std": ["Drosophila metathoracic femur phenotype", "metathoracic femur phenotype"], "equivalent_curie": ["_:f321906edef1c274d8d56ef65e2bd2b1"], "equivalent_curie_kw": ["_:f321906edef1c274d8d56ef65e2bd2b1"], "score": 28.611223, "id_kw": "FBbt:00004711PHENOTYPE", "equivalent_iri_eng": ["_:f321906edef1c274d8d56ef65e2bd2b1"], "label_kw": ["Drosophila metathoracic femur phenotype", "metathoracic femur phenotype"], "iri_kw": "http://purl.obolibrary.org/obo/FBbt_00004711PHENOTYPE", "equivalent_iri": ["_:f321906edef1c274d8d56ef65e2bd2b1"], "_version_": 1580845611770445824, "category_eng": ["Phenotype"], "iri_std": "http://purl.obolibrary.org/obo/FBbt_00004711PHENOTYPE", "id": "FBbt:00004711PHENOTYPE", "label": ["Drosophila metathoracic femur phenotype", "metathoracic femur phenotype"], "category": ["Phenotype"]}, {"equivalent_curie_eng": ["_:9ca856dabf88896db1341943dc1eb9a4"], "leaf": false, "category_std": ["Phenotype"], "id_std": "FBbt:00004689PHENOTYPE", "iri": "http://purl.obolibrary.org/obo/FBbt_00004689PHENOTYPE", "equivalent_iri_kw": ["_:9ca856dabf88896db1341943dc1eb9a4"], "label_eng": ["Drosophila mesothoracic femur phenotype", "mesothoracic femur phenotype"], "equivalent_curie_std": ["_:9ca856dabf88896db1341943dc1eb9a4"], "id_eng": "FBbt:00004689PHENOTYPE", "equivalent_iri_std": ["_:9ca856dabf88896db1341943dc1eb9a4"], "category_kw": ["Phenotype"], "iri_eng": "http://purl.obolibrary.org/obo/FBbt_00004689PHENOTYPE", "label_std": ["Drosophila mesothoracic femur phenotype", "mesothoracic femur phenotype"], "equivalent_curie": ["_:9ca856dabf88896db1341943dc1eb9a4"], "equivalent_curie_kw": ["_:9ca856dabf88896db1341943dc1eb9a4"], "score": 28.611223, "id_kw": "FBbt:00004689PHENOTYPE", "equivalent_iri_eng": ["_:9ca856dabf88896db1341943dc1eb9a4"], "label_kw": ["Drosophila mesothoracic femur phenotype", "mesothoracic femur phenotype"], "iri_kw": "http://purl.obolibrary.org/obo/FBbt_00004689PHENOTYPE", "equivalent_iri": ["_:9ca856dabf88896db1341943dc1eb9a4"], "_version_": 1580845604749180928, "category_eng": ["Phenotype"], "iri_std": "http://purl.obolibrary.org/obo/FBbt_00004689PHENOTYPE", "id": "FBbt:00004689PHENOTYPE", "label": ["Drosophila mesothoracic femur phenotype", "mesothoracic femur phenotype"], "category": ["Phenotype"]}, {"synonym": ["Hypoplasia of the femora", "Femoral hypoplasia", "Short thighbone", "Short femurs"], "equivalent_curie_eng": ["_:f0ee42c9830c2c97d967bf3ff736e51c", "MP:0003109"], "leaf": false, "category_std": ["Phenotype"], "id_std": "HP:0003097", "iri": "http://purl.obolibrary.org/obo/HP_0003097", "equivalent_iri_kw": ["_:f0ee42c9830c2c97d967bf3ff736e51c", "http://purl.obolibrary.org/obo/MP_0003109"], "label_eng": ["Short femur"], "definition_std": ["An abnormal shortening of the femur."], "id_eng": "HP:0003097", "definition_kw": ["An abnormal shortening of the femur."], "equivalent_iri_std": ["_:f0ee42c9830c2c97d967bf3ff736e51c", "http://purl.obolibrary.org/obo/MP_0003109"], "category_kw": ["Phenotype"], "iri_eng": "http://purl.obolibrary.org/obo/HP_0003097", "label_std": ["Short femur"], "equivalent_curie": ["_:f0ee42c9830c2c97d967bf3ff736e51c", "MP:0003109"], "equivalent_curie_kw": ["_:f0ee42c9830c2c97d967bf3ff736e51c", "MP:0003109"], "synonym_eng": ["Hypoplasia of the femora", "Femoral hypoplasia", "Short thighbone", "Short femurs"], "score": 27.842789, "id_kw": "HP:0003097", "equivalent_iri_eng": ["_:f0ee42c9830c2c97d967bf3ff736e51c", "http://purl.obolibrary.org/obo/MP_0003109"], "label_kw": ["Short femur"], "iri_kw": "http://purl.obolibrary.org/obo/HP_0003097", "equivalent_iri": ["_:f0ee42c9830c2c97d967bf3ff736e51c", "http://purl.obolibrary.org/obo/MP_0003109"], "_version_": 1580845591317970946, "category_eng": ["Phenotype"], "iri_std": "http://purl.obolibrary.org/obo/HP_0003097", "id": "HP:0003097", "definition": ["An abnormal shortening of the femur."], "synonym_kw": ["Hypoplasia of the femora", "Femoral hypoplasia", "Short thighbone", "Short femurs"], "synonym_std": ["Hypoplasia of the femora", "Femoral hypoplasia", "Short thighbone", "Short 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Might be associated with hip dysplasia on the affected side."], "synonym_kw": ["Split thighbone", "Notched thighbone"], "synonym_std": ["Split thighbone", "Notched thighbone"], "label": ["Bifid femur"], "definition_eng": ["A bifid or bifurcated appearance of the femur as seen on x-rays, possible appearing as a more or less severe bowing of the upper leg. Might be associated with hip dysplasia on the affected side."], "equivalent_curie_std": ["_:d445013c4c0391e288e230d54c9380b1"], "category": ["Phenotype"]}, {"equivalent_curie_eng": ["VT:0010009"], "leaf": false, "category_std": ["Phenotype"], "id_std": "AQTLTrait:2193", "iri": "http://identifiers.org/animalqtltrait/2193", "equivalent_iri_kw": ["http://purl.obolibrary.org/obo/VT_0010009"], "label_eng": ["Femur weight"], "equivalent_curie_std": ["VT:0010009"], "id_eng": "AQTLTrait:2193", "equivalent_iri_std": ["http://purl.obolibrary.org/obo/VT_0010009"], "category_kw": ["Phenotype"], "iri_eng": "http://identifiers.org/animalqtltrait/2193", "label_std": ["Femur weight"], "equivalent_curie": ["VT:0010009"], "equivalent_curie_kw": ["VT:0010009"], "score": 27.842789, "id_kw": "AQTLTrait:2193", "equivalent_iri_eng": ["http://purl.obolibrary.org/obo/VT_0010009"], "label_kw": ["Femur weight"], "iri_kw": "http://identifiers.org/animalqtltrait/2193", "equivalent_iri": ["http://purl.obolibrary.org/obo/VT_0010009"], "_version_": 1580845595153661954, "category_eng": ["Phenotype"], "iri_std": "http://identifiers.org/animalqtltrait/2193", "id": "AQTLTrait:2193", "label": ["Femur weight"], "category": ["Phenotype"]}, {"equivalent_curie_eng": ["VT:0004348"], "leaf": true, "category_std": ["Phenotype"], "id_std": "AQTLTrait:2161", "iri": "http://identifiers.org/animalqtltrait/2161", "equivalent_iri_kw": ["http://purl.obolibrary.org/obo/VT_0004348"], "label_eng": ["Femur length"], "equivalent_curie_std": ["VT:0004348"], "id_eng": "AQTLTrait:2161", "equivalent_iri_std": ["http://purl.obolibrary.org/obo/VT_0004348"], "category_kw": ["Phenotype"], "iri_eng": "http://identifiers.org/animalqtltrait/2161", "label_std": ["Femur length"], "equivalent_curie": ["VT:0004348"], "equivalent_curie_kw": ["VT:0004348"], "score": 27.842789, "id_kw": "AQTLTrait:2161", "equivalent_iri_eng": ["http://purl.obolibrary.org/obo/VT_0004348"], "label_kw": ["Femur length"], "iri_kw": "http://identifiers.org/animalqtltrait/2161", "equivalent_iri": ["http://purl.obolibrary.org/obo/VT_0004348"], "_version_": 1580845595171487744, "category_eng": ["Phenotype"], "iri_std": "http://identifiers.org/animalqtltrait/2161", "id": "AQTLTrait:2161", "label": ["Femur length"], "category": ["Phenotype"]}, {"equivalent_curie_eng": ["VT:1000369"], "leaf": false, "category_std": ["Phenotype"], "id_std": "AQTLTrait:134", "iri": "http://identifiers.org/animalqtltrait/134", "equivalent_iri_kw": ["http://purl.obolibrary.org/obo/VT_1000369"], "label_eng": ["Femur dimensions"], "equivalent_curie_std": ["VT:1000369"], "id_eng": "AQTLTrait:134", "equivalent_iri_std": ["http://purl.obolibrary.org/obo/VT_1000369"], "category_kw": ["Phenotype"], "iri_eng": "http://identifiers.org/animalqtltrait/134", "label_std": ["Femur dimensions"], "equivalent_curie": ["VT:1000369"], "equivalent_curie_kw": ["VT:1000369"], "score": 27.842789, "id_kw": "AQTLTrait:134", "equivalent_iri_eng": ["http://purl.obolibrary.org/obo/VT_1000369"], "label_kw": ["Femur dimensions"], "iri_kw": "http://identifiers.org/animalqtltrait/134", "equivalent_iri": ["http://purl.obolibrary.org/obo/VT_1000369"], "_version_": 1580845595836284929, "category_eng": ["Phenotype"], "iri_std": "http://identifiers.org/animalqtltrait/134", "id": "AQTLTrait:134", "label": ["Femur dimensions"], "category": ["Phenotype"]}, {"leaf": true, "category_std": ["Phenotype"], "id_std": "VT:1000666", "iri": "http://purl.obolibrary.org/obo/VT_1000666", "label_eng": ["femur width"], "definition_std": ["The distance from side to side of the long bone of the thigh."], "id_eng": "VT:1000666", "definition_kw": ["The distance from side to side of the long bone of the thigh."], "category_kw": ["Phenotype"], "iri_eng": "http://purl.obolibrary.org/obo/VT_1000666", "label_std": ["femur width"], "score": 27.842789, "id_kw": "VT:1000666", "label_kw": ["femur width"], "iri_kw": "http://purl.obolibrary.org/obo/VT_1000666", "_version_": 1580845549481885697, "category_eng": ["Phenotype"], "iri_std": "http://purl.obolibrary.org/obo/VT_1000666", "id": "VT:1000666", "definition": ["The distance from side to side of the long bone of the thigh."], "label": ["femur width"], "definition_eng": ["The distance from side to side of the long bone of the thigh."], "category": ["Phenotype"]}, {"equivalent_curie_eng": ["_:f7a79b19bd4d974cebaa57a74a2eb9b8"], "leaf": false, "category_std": ["Phenotype"], "id_std": "UBERON:0000981PHENOTYPE", "iri": "http://purl.obolibrary.org/obo/UBERON_0000981PHENOTYPE", "equivalent_iri_kw": ["_:f7a79b19bd4d974cebaa57a74a2eb9b8"], "label_eng": ["femur phenotype"], "definition_std": ["Any phenotype involving femur."], "id_eng": "UBERON:0000981PHENOTYPE", "definition_kw": ["Any phenotype involving femur."], "equivalent_iri_std": ["_:f7a79b19bd4d974cebaa57a74a2eb9b8"], "category_kw": ["Phenotype"], "iri_eng": "http://purl.obolibrary.org/obo/UBERON_0000981PHENOTYPE", "label_std": ["femur 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"http://purl.obolibrary.org/obo/MP_0020011", "label_eng": ["increased bone mineral density of femur"], "definition_std": ["elevation in the quatitative measurment value of mineral content of bone in the long bone of the thigh"], "id_eng": "MP:0020011", "definition_kw": ["elevation in the quatitative measurment value of mineral content of bone in the long bone of the thigh"], "category_kw": ["Phenotype"], "iri_eng": "http://purl.obolibrary.org/obo/MP_0020011", "label_std": ["increased bone mineral density of femur"], "synonym_eng": ["increased fumur bone mineral density", "increased BMD of femur"], "score": 27.672522, "id_kw": "MP:0020011", "label_kw": ["increased bone mineral density of femur"], "iri_kw": "http://purl.obolibrary.org/obo/MP_0020011", "_version_": 1580845590116302848, "category_eng": ["Phenotype"], "iri_std": "http://purl.obolibrary.org/obo/MP_0020011", "id": "MP:0020011", "definition": ["elevation in the quatitative measurment value of mineral content of bone in the long bone of the thigh"], "synonym_kw": ["increased fumur bone mineral density", "increased BMD of femur"], "synonym_std": ["increased fumur bone mineral density", "increased BMD of femur"], "label": ["increased bone mineral density of femur"], "definition_eng": ["elevation in the quatitative measurment value of mineral content of bone in the long bone of the thigh"], "category": ["Phenotype"]}, {"synonym": ["Wide distal metaphysis of femur", "Broad outermost wide portion of thighbone"], "equivalent_curie_eng": ["_:79902d1fc95cfe1a147c6288abbcae85"], "leaf": true, "category_std": ["Phenotype"], "id_std": "HP:0006387", "iri": "http://purl.obolibrary.org/obo/HP_0006387", "equivalent_iri_kw": ["_:79902d1fc95cfe1a147c6288abbcae85"], "label_eng": ["Wide distal femoral metaphysis"], "definition_std": ["Increased width of the distal part of the shaft (metaphysis) of the femur."], "id_eng": "HP:0006387", "definition_kw": ["Increased width of the distal part of the shaft (metaphysis) of the femur."], "equivalent_iri_std": ["_:79902d1fc95cfe1a147c6288abbcae85"], "category_kw": ["Phenotype"], "iri_eng": "http://purl.obolibrary.org/obo/HP_0006387", "label_std": ["Wide distal femoral metaphysis"], "equivalent_curie": ["_:79902d1fc95cfe1a147c6288abbcae85"], "equivalent_curie_kw": ["_:79902d1fc95cfe1a147c6288abbcae85"], "synonym_eng": ["Wide distal metaphysis of femur", "Broad outermost wide portion of thighbone"], "score": 27.672522, "id_kw": "HP:0006387", "equivalent_iri_eng": ["_:79902d1fc95cfe1a147c6288abbcae85"], "label_kw": ["Wide distal femoral metaphysis"], "iri_kw": "http://purl.obolibrary.org/obo/HP_0006387", "equivalent_iri": ["_:79902d1fc95cfe1a147c6288abbcae85"], "_version_": 1580845592338235392, "category_eng": ["Phenotype"], "iri_std": "http://purl.obolibrary.org/obo/HP_0006387", "id": "HP:0006387", "definition": ["Increased width of the distal part of the shaft (metaphysis) of the femur."], "synonym_kw": ["Wide distal metaphysis of femur", "Broad outermost wide portion of thighbone"], "synonym_std": ["Wide distal metaphysis of femur", "Broad outermost wide portion of thighbone"], "label": ["Wide distal femoral metaphysis"], "definition_eng": ["Increased width of the distal part of the shaft (metaphysis) of the femur."], "equivalent_curie_std": ["_:79902d1fc95cfe1a147c6288abbcae85"], "category": ["Phenotype"]}, {"synonym": ["femoral neoplasm", "neoplasm of femur", "Neoplasm, Femoral", "Femoral Neoplasm", "Neoplasms, Femoral"], "equivalent_curie_eng": ["UMLS:C0015807", "MESH:D005266"], "leaf": true, "category_std": ["disease"], "id_std": "DOID:5546", "iri": "http://purl.obolibrary.org/obo/DOID_5546", "equivalent_iri_kw": ["http://purl.obolibrary.org/obo/UMLS_C0015807", "http://purl.obolibrary.org/obo/MESH_D005266"], "label_eng": ["femoral cancer"], "definition_std": ["A bone cancer that is located_in the femur."], "id_eng": "DOID:5546", "definition_kw": ["A bone cancer that is located_in the femur."], "equivalent_iri_std": ["http://purl.obolibrary.org/obo/UMLS_C0015807", "http://purl.obolibrary.org/obo/MESH_D005266"], "category_kw": ["disease"], "iri_eng": "http://purl.obolibrary.org/obo/DOID_5546", "label_std": ["femoral cancer"], "equivalent_curie": ["UMLS:C0015807", "MESH:D005266"], "equivalent_curie_kw": ["UMLS:C0015807", "MESH:D005266"], "synonym_eng": ["femoral neoplasm", "neoplasm of femur", "Neoplasm, Femoral", "Femoral Neoplasm", "Neoplasms, Femoral"], "score": 27.672522, "id_kw": "DOID:5546", "equivalent_iri_eng": ["http://purl.obolibrary.org/obo/UMLS_C0015807", "http://purl.obolibrary.org/obo/MESH_D005266"], "label_kw": ["femoral cancer"], "iri_kw": "http://purl.obolibrary.org/obo/DOID_5546", "equivalent_iri": ["http://purl.obolibrary.org/obo/UMLS_C0015807", "http://purl.obolibrary.org/obo/MESH_D005266"], "_version_": 1580845594173243392, "category_eng": ["disease"], "iri_std": "http://purl.obolibrary.org/obo/DOID_5546", "id": "DOID:5546", "definition": ["A bone cancer that is located_in the femur."], "synonym_kw": ["femoral neoplasm", "neoplasm of femur", "Neoplasm, Femoral", "Femoral Neoplasm", "Neoplasms, Femoral"], "synonym_std": ["femoral neoplasm", "neoplasm of femur", "Neoplasm, Femoral", "Femoral Neoplasm", "Neoplasms, Femoral"], "label": ["femoral cancer"], "definition_eng": ["A bone cancer that is located_in the femur."], "equivalent_curie_std": ["UMLS:C0015807", "MESH:D005266"], "category": ["disease"]}, {"synonym": ["Femur, Unilateral Bifid, With Monodactylous Ectrodactyly", "Gollop-Wolfgang complex"], "equivalent_curie_eng": ["UMLS:C1856789"], "leaf": true, "category_std": ["disease"], "id_std": "MESH:C537917", "iri": "http://purl.obolibrary.org/obo/MESH_C537917", "equivalent_iri_kw": ["http://purl.obolibrary.org/obo/UMLS_C1856789"], "label_eng": ["Femur bifid with monodactylous ectrodactyly"], "equivalent_curie_std": ["UMLS:C1856789"], "id_eng": "MESH:C537917", "equivalent_iri_std": ["http://purl.obolibrary.org/obo/UMLS_C1856789"], "category_kw": ["disease"], "iri_eng": "http://purl.obolibrary.org/obo/MESH_C537917", "label_std": ["Femur bifid with monodactylous ectrodactyly"], "equivalent_curie": ["UMLS:C1856789"], "equivalent_curie_kw": ["UMLS:C1856789"], "synonym_eng": ["Femur, Unilateral Bifid, With Monodactylous Ectrodactyly", "Gollop-Wolfgang complex"], "score": 27.672522, "id_kw": "MESH:C537917", "equivalent_iri_eng": ["http://purl.obolibrary.org/obo/UMLS_C1856789"], "label_kw": ["Femur bifid with monodactylous ectrodactyly"], "iri_kw": "http://purl.obolibrary.org/obo/MESH_C537917", "equivalent_iri": ["http://purl.obolibrary.org/obo/UMLS_C1856789"], "_version_": 1580845620942340098, "category_eng": ["disease"], "iri_std": "http://purl.obolibrary.org/obo/MESH_C537917", "id": "MESH:C537917", "synonym_kw": ["Femur, Unilateral Bifid, With Monodactylous Ectrodactyly", "Gollop-Wolfgang complex"], "synonym_std": ["Femur, Unilateral Bifid, With Monodactylous Ectrodactyly", "Gollop-Wolfgang complex"], "label": ["Femur bifid with monodactylous ectrodactyly"], "category": ["disease"]}, {"leaf": true, "category_std": ["Phenotype"], "id_std": "MP:0013633", "iri": "http://purl.obolibrary.org/obo/MP_0013633", "label_eng": ["decreased femur maximal load"], "definition_std": ["decrease in the maximal load (N) sustained by the femur"], "id_eng": "MP:0013633", "definition_kw": ["decrease in the maximal load (N) sustained by the femur"], "category_kw": ["Phenotype"], "iri_eng": "http://purl.obolibrary.org/obo/MP_0013633", "label_std": ["decreased femur maximal load"], "score": 25.340452, "id_kw": "MP:0013633", "label_kw": ["decreased femur maximal load"], "iri_kw": "http://purl.obolibrary.org/obo/MP_0013633", "_version_": 1580845589711552514, "category_eng": ["Phenotype"], "iri_std": "http://purl.obolibrary.org/obo/MP_0013633", "id": "MP:0013633", "definition": ["decrease in the maximal load (N) sustained by the femur"], "label": ["decreased femur maximal load"], "definition_eng": ["decrease in the maximal load (N) sustained by the femur"], "category": ["Phenotype"]}, {"leaf": true, "category_std": ["Phenotype"], "id_std": "MP:0013638", "iri": "http://purl.obolibrary.org/obo/MP_0013638", "label_eng": ["decreased femur stiffness"], "definition_std": ["decrease in material stiffness (N/mm) during elastic deformation in the femur"], "id_eng": "MP:0013638", "definition_kw": ["decrease in material stiffness (N/mm) during elastic deformation in the femur"], "category_kw": ["Phenotype"], "iri_eng": "http://purl.obolibrary.org/obo/MP_0013638", "label_std": ["decreased femur stiffness"], "score": 25.340452, "id_kw": "MP:0013638", "label_kw": ["decreased femur stiffness"], "iri_kw": "http://purl.obolibrary.org/obo/MP_0013638", "_version_": 1580845589711552515, "category_eng": ["Phenotype"], "iri_std": "http://purl.obolibrary.org/obo/MP_0013638", "id": "MP:0013638", "definition": ["decrease in material stiffness (N/mm) during elastic deformation in the femur"], "label": ["decreased femur stiffness"], "definition_eng": ["decrease in material stiffness (N/mm) during elastic deformation in the femur"], "category": ["Phenotype"]}, {"leaf": true, "category_std": ["Phenotype"], "id_std": "MP:0013626", "iri": "http://purl.obolibrary.org/obo/MP_0013626", "label_eng": ["decreased femur yield load"], "definition_std": ["decrease in load (N) on the femur at which elastic deformation ends"], "id_eng": "MP:0013626", "definition_kw": ["decrease in load (N) on the femur at which elastic deformation ends"], "category_kw": ["Phenotype"], "iri_eng": "http://purl.obolibrary.org/obo/MP_0013626", "label_std": ["decreased femur yield load"], "score": 25.340452, "id_kw": "MP:0013626", "label_kw": ["decreased femur yield load"], "iri_kw": "http://purl.obolibrary.org/obo/MP_0013626", "_version_": 1580845589719941122, "category_eng": ["Phenotype"], "iri_std": "http://purl.obolibrary.org/obo/MP_0013626", "id": "MP:0013626", "definition": ["decrease in load (N) on the femur at which elastic deformation ends"], "label": ["decreased femur yield load"], "definition_eng": ["decrease in load (N) on the femur at which elastic deformation ends"], "category": ["Phenotype"]}, {"synonym": ["Hypoplastic to absent femora", "Absent/small thighbone", "Absent/underdeveloped thighbone", "Hypoplastic/aplastic femora"], "equivalent_curie_eng": ["_:f6e7016b71fd58807650c80905b4a9ac"], "leaf": false, "category_std": ["Phenotype"], "id_std": "HP:0005613", "iri": "http://purl.obolibrary.org/obo/HP_0005613", "equivalent_iri_kw": ["_:f6e7016b71fd58807650c80905b4a9ac"], "label_eng": ["Aplasia/hypoplasia of the femur"], "definition_std": ["Absence or underdevelopment of the femur."], "id_eng": "HP:0005613", "definition_kw": ["Absence or underdevelopment of the femur."], "equivalent_iri_std": ["_:f6e7016b71fd58807650c80905b4a9ac"], "category_kw": ["Phenotype"], "iri_eng": "http://purl.obolibrary.org/obo/HP_0005613", "label_std": ["Aplasia/hypoplasia of the femur"], "equivalent_curie": ["_:f6e7016b71fd58807650c80905b4a9ac"], "equivalent_curie_kw": ["_:f6e7016b71fd58807650c80905b4a9ac"], "synonym_eng": ["Hypoplastic to absent femora", "Absent/small thighbone", "Absent/underdeveloped thighbone", "Hypoplastic/aplastic femora"], "score": 25.340452, "id_kw": "HP:0005613", "equivalent_iri_eng": ["_:f6e7016b71fd58807650c80905b4a9ac"], "label_kw": ["Aplasia/hypoplasia of the femur"], "iri_kw": "http://purl.obolibrary.org/obo/HP_0005613", "equivalent_iri": ["_:f6e7016b71fd58807650c80905b4a9ac"], "_version_": 1580845591382982658, "category_eng": ["Phenotype"], "iri_std": "http://purl.obolibrary.org/obo/HP_0005613", "id": "HP:0005613", "definition": ["Absence or underdevelopment of the femur."], "synonym_kw": ["Hypoplastic to absent femora", "Absent/small thighbone", "Absent/underdeveloped thighbone", "Hypoplastic/aplastic femora"], "synonym_std": ["Hypoplastic to absent femora", "Absent/small thighbone", "Absent/underdeveloped thighbone", "Hypoplastic/aplastic femora"], "label": ["Aplasia/hypoplasia of the femur"], "definition_eng": ["Absence or underdevelopment of the femur."], "equivalent_curie_std": ["_:f6e7016b71fd58807650c80905b4a9ac"], "category": ["Phenotype"]}, {"synonym": ["Club-shaped innermost end of thighbone"], "leaf": true, "category_std": ["Phenotype"], "id_std": "HP:0006406", "iri": "http://purl.obolibrary.org/obo/HP_0006406", "label_eng": ["Club-shaped proximal femur"], "definition_std": ["An abnormal conformation of the femur that becomes gradually enlarged towards the proximal end. This feature affects the proximal femoral metaphysis and epiphysis."], "id_eng": "HP:0006406", "definition_kw": ["An abnormal conformation of the femur that becomes gradually enlarged towards the proximal end. This feature affects the proximal femoral metaphysis and epiphysis."], "category_kw": ["Phenotype"], "iri_eng": "http://purl.obolibrary.org/obo/HP_0006406", "label_std": ["Club-shaped proximal femur"], "synonym_eng": ["Club-shaped innermost end of thighbone"], "score": 25.340452, "id_kw": "HP:0006406", "label_kw": ["Club-shaped proximal femur"], "iri_kw": "http://purl.obolibrary.org/obo/HP_0006406", "_version_": 1580845591608426498, "category_eng": ["Phenotype"], "iri_std": "http://purl.obolibrary.org/obo/HP_0006406", "id": "HP:0006406", "definition": ["An abnormal conformation of the femur that becomes gradually enlarged towards the proximal end. This feature affects the proximal femoral metaphysis and epiphysis."], "synonym_kw": ["Club-shaped innermost end of thighbone"], "synonym_std": ["Club-shaped innermost end of thighbone"], "label": ["Club-shaped proximal femur"], "definition_eng": ["An abnormal conformation of the femur that becomes gradually enlarged towards the proximal end. This feature affects the proximal femoral metaphysis and epiphysis."], "category": ["Phenotype"]}, {"synonym": ["Tapering of outermost end of thighbone"], "leaf": true, "category_std": ["Phenotype"], "id_std": "HP:0006408", "iri": "http://purl.obolibrary.org/obo/HP_0006408", "label_eng": ["Distal tapering femur"], "id_eng": "HP:0006408", "category_kw": ["Phenotype"], "iri_eng": "http://purl.obolibrary.org/obo/HP_0006408", "label_std": ["Distal tapering femur"], "synonym_eng": ["Tapering of outermost end of thighbone"], "score": 25.340452, "id_kw": "HP:0006408", "label_kw": ["Distal tapering femur"], "iri_kw": "http://purl.obolibrary.org/obo/HP_0006408", "_version_": 1580845592280563713, "category_eng": ["Phenotype"], "iri_std": "http://purl.obolibrary.org/obo/HP_0006408", "id": "HP:0006408", "synonym_kw": ["Tapering of outermost end of thighbone"], "synonym_std": ["Tapering of outermost end of thighbone"], "label": ["Distal tapering femur"], "category": ["Phenotype"]}, {"synonym": ["Club-shaped distal femora", "Club-shaped outermost end of thighbone"], "leaf": true, "category_std": ["Phenotype"], "id_std": "HP:0006384", "iri": "http://purl.obolibrary.org/obo/HP_0006384", "label_eng": ["Club-shaped distal femur"], "definition_std": ["An abnormal conformation of the femur that becomes gradually enlarged towards the distal end. This feature affects the distal femoral metaphysis and epiphysis."], "id_eng": "HP:0006384", "definition_kw": ["An abnormal conformation of the femur that becomes gradually enlarged towards the distal end. This feature affects the distal femoral metaphysis and epiphysis."], "category_kw": ["Phenotype"], "iri_eng": "http://purl.obolibrary.org/obo/HP_0006384", "label_std": ["Club-shaped distal femur"], "synonym_eng": ["Club-shaped distal femora", "Club-shaped outermost end of thighbone"], "score": 25.340452, "id_kw": "HP:0006384", "label_kw": ["Club-shaped distal femur"], "iri_kw": "http://purl.obolibrary.org/obo/HP_0006384", "_version_": 1580845592338235394, "category_eng": ["Phenotype"], "iri_std": "http://purl.obolibrary.org/obo/HP_0006384", "id": "HP:0006384", "definition": ["An abnormal conformation of the femur that becomes gradually enlarged towards the distal end. This feature affects the distal femoral metaphysis and epiphysis."], "synonym_kw": ["Club-shaped distal femora", "Club-shaped outermost end of thighbone"], "synonym_std": ["Club-shaped distal femora", "Club-shaped outermost end of thighbone"], "label": ["Club-shaped distal femur"], "definition_eng": ["An abnormal conformation of the femur that becomes gradually enlarged towards the distal end. This feature affects the distal femoral metaphysis and epiphysis."], "category": ["Phenotype"]}, {"synonym": ["Dumbbell-shaped thighbone"], "leaf": true, "category_std": ["Phenotype"], "id_std": "HP:0006375", "iri": "http://purl.obolibrary.org/obo/HP_0006375", "label_eng": ["Dumbbell-shaped femur"], "definition_std": ["The femur is shortened and displays flaring (widening) of the metaphyses."], "id_eng": "HP:0006375", "definition_kw": ["The femur is shortened and displays flaring (widening) of the metaphyses."], "category_kw": ["Phenotype"], "iri_eng": "http://purl.obolibrary.org/obo/HP_0006375", "label_std": ["Dumbbell-shaped femur"], "synonym_eng": ["Dumbbell-shaped thighbone"], "score": 25.340452, "id_kw": "HP:0006375", "label_kw": ["Dumbbell-shaped femur"], "iri_kw": "http://purl.obolibrary.org/obo/HP_0006375", "_version_": 1580845592343478273, "category_eng": ["Phenotype"], "iri_std": "http://purl.obolibrary.org/obo/HP_0006375", "id": "HP:0006375", "definition": ["The femur is shortened and displays flaring (widening) of the metaphyses."], "synonym_kw": ["Dumbbell-shaped thighbone"], "synonym_std": ["Dumbbell-shaped thighbone"], "label": ["Dumbbell-shaped femur"], "definition_eng": ["The femur is shortened and displays flaring (widening) of the metaphyses."], "category": ["Phenotype"]}, {"synonym": ["Abnormality of the femora", "Abnormality of the thighbone"], "equivalent_curie_eng": ["_:7ce463374fd6f9921a608bd4d136cb7c", "MP:0000559"], "leaf": false, "category_std": ["Phenotype"], "id_std": "HP:0002823", "iri": "http://purl.obolibrary.org/obo/HP_0002823", "equivalent_iri_kw": ["_:7ce463374fd6f9921a608bd4d136cb7c", "http://purl.obolibrary.org/obo/MP_0000559"], "label_eng": ["Abnormality of femur morphology"], "definition_std": ["Any anomaly of the structure of the femur."], "id_eng": "HP:0002823", "definition_kw": ["Any anomaly of the structure of the femur."], "equivalent_iri_std": ["_:7ce463374fd6f9921a608bd4d136cb7c", "http://purl.obolibrary.org/obo/MP_0000559"], "category_kw": ["Phenotype"], "iri_eng": "http://purl.obolibrary.org/obo/HP_0002823", "label_std": ["Abnormality of femur morphology"], "equivalent_curie": ["_:7ce463374fd6f9921a608bd4d136cb7c", "MP:0000559"], "equivalent_curie_kw": ["_:7ce463374fd6f9921a608bd4d136cb7c", "MP:0000559"], "synonym_eng": ["Abnormality of the femora", "Abnormality of the thighbone"], "score": 25.340452, "id_kw": "HP:0002823", "equivalent_iri_eng": ["_:7ce463374fd6f9921a608bd4d136cb7c", "http://purl.obolibrary.org/obo/MP_0000559"], "label_kw": ["Abnormality of femur morphology"], "iri_kw": "http://purl.obolibrary.org/obo/HP_0002823", "equivalent_iri": ["_:7ce463374fd6f9921a608bd4d136cb7c", "http://purl.obolibrary.org/obo/MP_0000559"], "_version_": 1580845592798560258, "category_eng": ["Phenotype"], "iri_std": "http://purl.obolibrary.org/obo/HP_0002823", "id": "HP:0002823", "definition": ["Any anomaly of the structure of the femur."], "synonym_kw": ["Abnormality of the femora", "Abnormality of the thighbone"], "synonym_std": ["Abnormality of the femora", "Abnormality of the thighbone"], "label": ["Abnormality of femur morphology"], "definition_eng": ["Any anomaly of the structure of the femur."], "equivalent_curie_std": ["_:7ce463374fd6f9921a608bd4d136cb7c", "MP:0000559"], "category": ["Phenotype"]}, {"equivalent_curie_eng": ["VT:0010014"], "leaf": true, "category_std": ["Phenotype"], "id_std": "AQTLTrait:2165", "iri": "http://identifiers.org/animalqtltrait/2165", "equivalent_iri_kw": ["http://purl.obolibrary.org/obo/VT_0010014"], "label_eng": ["Femur endosteal circumference"], "equivalent_curie_std": ["VT:0010014"], "id_eng": "AQTLTrait:2165", "equivalent_iri_std": ["http://purl.obolibrary.org/obo/VT_0010014"], "category_kw": ["Phenotype"], "iri_eng": "http://identifiers.org/animalqtltrait/2165", "label_std": ["Femur endosteal circumference"], "equivalent_curie": ["VT:0010014"], "equivalent_curie_kw": ["VT:0010014"], "score": 25.340452, "id_kw": "AQTLTrait:2165", "equivalent_iri_eng": ["http://purl.obolibrary.org/obo/VT_0010014"], "label_kw": ["Femur endosteal circumference"], "iri_kw": "http://identifiers.org/animalqtltrait/2165", "equivalent_iri": ["http://purl.obolibrary.org/obo/VT_0010014"], "_version_": 1580845595169390594, "category_eng": ["Phenotype"], "iri_std": "http://identifiers.org/animalqtltrait/2165", "id": "AQTLTrait:2165", "label": ["Femur endosteal circumference"], "category": ["Phenotype"]}, {"equivalent_curie_eng": ["VT:0010010"], "leaf": true, "category_std": ["Phenotype"], "id_std": "AQTLTrait:2162", "iri": "http://identifiers.org/animalqtltrait/2162", "equivalent_iri_kw": ["http://purl.obolibrary.org/obo/VT_0010010"], "label_eng": ["Femur bending strength"], "equivalent_curie_std": ["VT:0010010"], "id_eng": "AQTLTrait:2162", "equivalent_iri_std": ["http://purl.obolibrary.org/obo/VT_0010010"], "category_kw": ["Phenotype"], "iri_eng": "http://identifiers.org/animalqtltrait/2162", "label_std": ["Femur bending strength"], "equivalent_curie": ["VT:0010010"], "equivalent_curie_kw": ["VT:0010010"], "score": 25.340452, "id_kw": "AQTLTrait:2162", "equivalent_iri_eng": ["http://purl.obolibrary.org/obo/VT_0010010"], "label_kw": ["Femur bending strength"], "iri_kw": "http://identifiers.org/animalqtltrait/2162", "equivalent_iri": ["http://purl.obolibrary.org/obo/VT_0010010"], "_version_": 1580845595171487745, "category_eng": ["Phenotype"], "iri_std": "http://identifiers.org/animalqtltrait/2162", "id": "AQTLTrait:2162", "label": ["Femur bending strength"], "category": ["Phenotype"]}, {"equivalent_curie_eng": ["VT:0010011"], "leaf": true, "category_std": ["Phenotype"], "id_std": "AQTLTrait:2160", "iri": "http://identifiers.org/animalqtltrait/2160", "equivalent_iri_kw": ["http://purl.obolibrary.org/obo/VT_0010011"], "label_eng": ["Femur bone mineral density"], "equivalent_curie_std": ["VT:0010011"], "id_eng": "AQTLTrait:2160", "equivalent_iri_std": ["http://purl.obolibrary.org/obo/VT_0010011"], "category_kw": ["Phenotype"], "iri_eng": "http://identifiers.org/animalqtltrait/2160", "label_std": ["Femur bone mineral density"], "equivalent_curie": ["VT:0010011"], "equivalent_curie_kw": ["VT:0010011"], "score": 25.340452, "id_kw": "AQTLTrait:2160", "equivalent_iri_eng": ["http://purl.obolibrary.org/obo/VT_0010011"], "label_kw": ["Femur bone mineral density"], "iri_kw": "http://identifiers.org/animalqtltrait/2160", "equivalent_iri": ["http://purl.obolibrary.org/obo/VT_0010011"], "_version_": 1580845595172536320, "category_eng": ["Phenotype"], "iri_std": "http://identifiers.org/animalqtltrait/2160", "id": "AQTLTrait:2160", "label": ["Femur bone mineral density"], "category": ["Phenotype"]}, {"equivalent_curie_eng": ["_:c29b06e7c7fb3c2a7d84362f09ad94ce"], "leaf": false, "category_std": ["Phenotype"], "id_std": "UBERON:0009980PHENOTYPE", "iri": "http://purl.obolibrary.org/obo/UBERON_0009980PHENOTYPE", "equivalent_iri_kw": ["_:c29b06e7c7fb3c2a7d84362f09ad94ce"], "label_eng": ["condyle of femur phenotype"], "definition_std": ["Any phenotype involving condyle of femur."], "id_eng": "UBERON:0009980PHENOTYPE", "definition_kw": ["Any phenotype involving condyle of femur."], "equivalent_iri_std": ["_:c29b06e7c7fb3c2a7d84362f09ad94ce"], "category_kw": ["Phenotype"], "iri_eng": "http://purl.obolibrary.org/obo/UBERON_0009980PHENOTYPE", "label_std": ["condyle of femur phenotype"], "equivalent_curie": ["_:c29b06e7c7fb3c2a7d84362f09ad94ce"], "equivalent_curie_kw": ["_:c29b06e7c7fb3c2a7d84362f09ad94ce"], "score": 25.340452, "id_kw": "UBERON:0009980PHENOTYPE", "equivalent_iri_eng": ["_:c29b06e7c7fb3c2a7d84362f09ad94ce"], "label_kw": ["condyle of femur phenotype"], "iri_kw": "http://purl.obolibrary.org/obo/UBERON_0009980PHENOTYPE", "equivalent_iri": ["_:c29b06e7c7fb3c2a7d84362f09ad94ce"], "_version_": 1580845598012080130, "category_eng": ["Phenotype"], "iri_std": "http://purl.obolibrary.org/obo/UBERON_0009980PHENOTYPE", "id": "UBERON:0009980PHENOTYPE", "definition": ["Any phenotype involving condyle of femur."], "label": ["condyle of femur phenotype"], "definition_eng": ["Any phenotype involving condyle of femur."], "equivalent_curie_std": ["_:c29b06e7c7fb3c2a7d84362f09ad94ce"], "category": ["Phenotype"]}, {"leaf": false, "category_std": ["Phenotype"], "id_std": "VT:0000559", "iri": "http://purl.obolibrary.org/obo/VT_0000559", "label_eng": ["femur morphology trait"], "definition_std": ["Any measurable or observable characteristic related to the shape, structure, color, or pattern of the long bone of the thigh."], "id_eng": "VT:0000559", "definition_kw": ["Any measurable or observable characteristic related to the shape, structure, color, or pattern of the long bone of the thigh."], "category_kw": ["Phenotype"], "iri_eng": "http://purl.obolibrary.org/obo/VT_0000559", "label_std": ["femur morphology trait"], "score": 25.340452, "id_kw": "VT:0000559", "label_kw": ["femur morphology trait"], "iri_kw": "http://purl.obolibrary.org/obo/VT_0000559", "_version_": 1580845549456719875, "category_eng": ["Phenotype"], "iri_std": "http://purl.obolibrary.org/obo/VT_0000559", "id": "VT:0000559", "definition": ["Any measurable or observable characteristic related to the shape, structure, color, or pattern of the long bone of the thigh."], "label": ["femur morphology trait"], "definition_eng": ["Any measurable or observable characteristic related to the shape, structure, color, or pattern of the long bone of the thigh."], "category": ["Phenotype"]}, {"equivalent_curie_eng": ["_:3d4f531cc4bd8eb604bd48b03c0d008d"], "leaf": true, "category_std": ["Phenotype"], "id_std": "UBERON:0009984PHENOTYPE", "iri": "http://purl.obolibrary.org/obo/UBERON_0009984PHENOTYPE", "equivalent_iri_kw": ["_:3d4f531cc4bd8eb604bd48b03c0d008d"], "label_eng": ["medial condyle of femur phenotype"], "definition_std": ["Any phenotype involving medial condyle of femur."], "id_eng": "UBERON:0009984PHENOTYPE", "definition_kw": ["Any phenotype involving medial condyle of femur."], "equivalent_iri_std": ["_:3d4f531cc4bd8eb604bd48b03c0d008d"], "category_kw": ["Phenotype"], "iri_eng": "http://purl.obolibrary.org/obo/UBERON_0009984PHENOTYPE", "label_std": ["medial condyle of femur phenotype"], "equivalent_curie": ["_:3d4f531cc4bd8eb604bd48b03c0d008d"], "equivalent_curie_kw": ["_:3d4f531cc4bd8eb604bd48b03c0d008d"], "score": 25.340452, "id_kw": "UBERON:0009984PHENOTYPE", "equivalent_iri_eng": ["_:3d4f531cc4bd8eb604bd48b03c0d008d"], "label_kw": ["medial condyle of femur phenotype"], "iri_kw": "http://purl.obolibrary.org/obo/UBERON_0009984PHENOTYPE", "equivalent_iri": ["_:3d4f531cc4bd8eb604bd48b03c0d008d"], "_version_": 1580845609095528451, "category_eng": ["Phenotype"], "iri_std": "http://purl.obolibrary.org/obo/UBERON_0009984PHENOTYPE", "id": "UBERON:0009984PHENOTYPE", "definition": ["Any phenotype involving medial condyle of femur."], "label": ["medial condyle of femur phenotype"], "definition_eng": ["Any phenotype involving medial condyle of femur."], "equivalent_curie_std": ["_:3d4f531cc4bd8eb604bd48b03c0d008d"], "category": ["Phenotype"]}, {"label_std": ["Metaphyseal chondromatosis of femur"], "label_kw": ["Metaphyseal chondromatosis of femur"], "leaf": true, "category_std": ["Phenotype"], "id_std": "HP:0030295", "iri": "http://purl.obolibrary.org/obo/HP_0030295", "iri_eng": "http://purl.obolibrary.org/obo/HP_0030295", "label_eng": ["Metaphyseal chondromatosis of femur"], "iri_kw": "http://purl.obolibrary.org/obo/HP_0030295", "id_eng": "HP:0030295", "category_eng": ["Phenotype"], "iri_std": "http://purl.obolibrary.org/obo/HP_0030295", "id": "HP:0030295", "category_kw": ["Phenotype"], "label": ["Metaphyseal chondromatosis of femur"], "score": 25.340452, "_version_": 1580845609116499972, "id_kw": "HP:0030295", "category": ["Phenotype"]}, {"equivalent_curie_eng": ["_:bde1049eedc5df8bb51c15ce135e6d5e"], "leaf": false, "category_std": ["Phenotype"], "id_std": "UBERON:0015052PHENOTYPE", "iri": "http://purl.obolibrary.org/obo/UBERON_0015052PHENOTYPE", "equivalent_iri_kw": ["_:bde1049eedc5df8bb51c15ce135e6d5e"], "label_eng": ["femur endochondral element phenotype"], "definition_std": ["Any phenotype involving femur endochondral element."], "id_eng": "UBERON:0015052PHENOTYPE", "definition_kw": ["Any phenotype involving femur endochondral element."], "equivalent_iri_std": ["_:bde1049eedc5df8bb51c15ce135e6d5e"], "category_kw": ["Phenotype"], "iri_eng": "http://purl.obolibrary.org/obo/UBERON_0015052PHENOTYPE", "label_std": ["femur endochondral element phenotype"], "equivalent_curie": ["_:bde1049eedc5df8bb51c15ce135e6d5e"], "equivalent_curie_kw": ["_:bde1049eedc5df8bb51c15ce135e6d5e"], "score": 25.340452, "id_kw": "UBERON:0015052PHENOTYPE", "equivalent_iri_eng": ["_:bde1049eedc5df8bb51c15ce135e6d5e"], "label_kw": ["femur endochondral element phenotype"], "iri_kw": "http://purl.obolibrary.org/obo/UBERON_0015052PHENOTYPE", "equivalent_iri": ["_:bde1049eedc5df8bb51c15ce135e6d5e"], "_version_": 1580845611189534723, "category_eng": ["Phenotype"], "iri_std": "http://purl.obolibrary.org/obo/UBERON_0015052PHENOTYPE", "id": "UBERON:0015052PHENOTYPE", "definition": ["Any phenotype involving femur endochondral element."], "label": ["femur endochondral element phenotype"], "definition_eng": ["Any phenotype involving femur endochondral element."], "equivalent_curie_std": ["_:bde1049eedc5df8bb51c15ce135e6d5e"], "category": ["Phenotype"]}, {"equivalent_curie_eng": ["_:011cc0fefa05df2dcd7bf4546ddc3ad5"], "leaf": false, "category_std": ["Phenotype"], "id_std": "UBERON:0006863PHENOTYPE", "iri": "http://purl.obolibrary.org/obo/UBERON_0006863PHENOTYPE", "equivalent_iri_kw": ["_:011cc0fefa05df2dcd7bf4546ddc3ad5"], "label_eng": ["proximal metaphysis of femur phenotype"], "definition_std": ["Any phenotype involving proximal metaphysis of femur."], "id_eng": "UBERON:0006863PHENOTYPE", "definition_kw": ["Any phenotype involving proximal metaphysis of femur."], "equivalent_iri_std": ["_:011cc0fefa05df2dcd7bf4546ddc3ad5"], "category_kw": ["Phenotype"], "iri_eng": "http://purl.obolibrary.org/obo/UBERON_0006863PHENOTYPE", "label_std": ["proximal metaphysis of femur phenotype"], "equivalent_curie": ["_:011cc0fefa05df2dcd7bf4546ddc3ad5"], "equivalent_curie_kw": ["_:011cc0fefa05df2dcd7bf4546ddc3ad5"], "score": 25.340452, "id_kw": "UBERON:0006863PHENOTYPE", "equivalent_iri_eng": ["_:011cc0fefa05df2dcd7bf4546ddc3ad5"], "label_kw": ["proximal metaphysis of femur phenotype"], "iri_kw": "http://purl.obolibrary.org/obo/UBERON_0006863PHENOTYPE", "equivalent_iri": ["_:011cc0fefa05df2dcd7bf4546ddc3ad5"], "_version_": 1580845611404492800, "category_eng": ["Phenotype"], "iri_std": "http://purl.obolibrary.org/obo/UBERON_0006863PHENOTYPE", "id": "UBERON:0006863PHENOTYPE", "definition": ["Any phenotype involving proximal metaphysis of femur."], "label": ["proximal metaphysis of femur phenotype"], "definition_eng": ["Any phenotype involving proximal metaphysis of femur."], "equivalent_curie_std": ["_:011cc0fefa05df2dcd7bf4546ddc3ad5"], "category": ["Phenotype"]}, {"leaf": true, "category_std": ["Phenotype"], "id_std": "MP:0013625", "iri": "http://purl.obolibrary.org/obo/MP_0013625", "label_eng": ["increased femur yield load"], "definition_std": ["increase in load (N) on the femur at which elastic deformation ends"], "id_eng": "MP:0013625", "definition_kw": ["increase in load (N) on the femur at which elastic deformation ends"], "category_kw": ["Phenotype"], "iri_eng": "http://purl.obolibrary.org/obo/MP_0013625", "label_std": ["increased femur yield load"], "score": 25.340452, "id_kw": "MP:0013625", "label_kw": ["increased femur yield load"], "iri_kw": "http://purl.obolibrary.org/obo/MP_0013625", "_version_": 1580845612867256323, "category_eng": ["Phenotype"], "iri_std": "http://purl.obolibrary.org/obo/MP_0013625", "id": "MP:0013625", "definition": ["increase in load (N) on the femur at which elastic deformation ends"], "label": ["increased femur yield load"], "definition_eng": ["increase in load (N) on the femur at which elastic deformation ends"], "category": ["Phenotype"]}, {"leaf": true, "category_std": ["Phenotype"], "id_std": "MP:0013634", "iri": "http://purl.obolibrary.org/obo/MP_0013634", "label_eng": ["increased femur fracture load"], "definition_std": ["increase in the load at which material failure occurs after plastic deformation"], "id_eng": "MP:0013634", "definition_kw": ["increase in the load at which material failure occurs after plastic deformation"], "category_kw": ["Phenotype"], "iri_eng": "http://purl.obolibrary.org/obo/MP_0013634", "label_std": ["increased femur fracture load"], "score": 25.340452, "id_kw": "MP:0013634", "label_kw": ["increased femur fracture load"], "iri_kw": "http://purl.obolibrary.org/obo/MP_0013634", "_version_": 1580845612868304896, "category_eng": ["Phenotype"], "iri_std": "http://purl.obolibrary.org/obo/MP_0013634", "id": "MP:0013634", "definition": ["increase in the load at which material failure occurs after plastic deformation"], "label": ["increased femur fracture load"], "definition_eng": ["increase in the load at which material failure occurs after plastic deformation"], "category": ["Phenotype"]}, {"leaf": true, "category_std": ["Phenotype"], "id_std": "MP:0013635", "iri": "http://purl.obolibrary.org/obo/MP_0013635", "label_eng": ["decreased femur fracture load"], "definition_std": ["decrease in the load at which material failure occurs after plastic deformation"], "id_eng": "MP:0013635", "definition_kw": ["decrease in the load at which material failure occurs after plastic deformation"], "category_kw": ["Phenotype"], "iri_eng": "http://purl.obolibrary.org/obo/MP_0013635", "label_std": ["decreased femur fracture load"], "score": 25.340452, "id_kw": "MP:0013635", "label_kw": ["decreased femur fracture load"], "iri_kw": "http://purl.obolibrary.org/obo/MP_0013635", "_version_": 1580845612868304897, "category_eng": ["Phenotype"], "iri_std": "http://purl.obolibrary.org/obo/MP_0013635", "id": "MP:0013635", "definition": ["decrease in the load at which material failure occurs after plastic deformation"], "label": ["decreased femur fracture load"], "definition_eng": ["decrease in the load at which material failure occurs after plastic deformation"], "category": ["Phenotype"]}, {"leaf": true, "category_std": ["Phenotype"], "id_std": "MP:0013632", "iri": "http://purl.obolibrary.org/obo/MP_0013632", "label_eng": ["increased femur maximal load"], "definition_std": ["increase in the maximal load (N) sustained by the femur"], "id_eng": "MP:0013632", "definition_kw": ["increase in the maximal load (N) sustained by the femur"], "category_kw": ["Phenotype"], "iri_eng": "http://purl.obolibrary.org/obo/MP_0013632", "label_std": ["increased femur maximal load"], "score": 25.340452, "id_kw": "MP:0013632", "label_kw": ["increased femur maximal load"], "iri_kw": "http://purl.obolibrary.org/obo/MP_0013632", "_version_": 1580845612868304898, "category_eng": ["Phenotype"], "iri_std": "http://purl.obolibrary.org/obo/MP_0013632", "id": "MP:0013632", "definition": ["increase in the maximal load (N) sustained by the femur"], "label": ["increased femur maximal load"], "definition_eng": ["increase in the maximal load (N) sustained by the femur"], "category": ["Phenotype"]}, {"leaf": true, "category_std": ["Phenotype"], "id_std": "MP:0013637", "iri": "http://purl.obolibrary.org/obo/MP_0013637", "label_eng": ["increased femur stiffness"], "definition_std": ["increase in material stiffness (N/mm) during elastic deformation in the femur"], "id_eng": "MP:0013637", "definition_kw": ["increase in material stiffness (N/mm) during elastic deformation in the femur"], "category_kw": ["Phenotype"], "iri_eng": "http://purl.obolibrary.org/obo/MP_0013637", "label_std": ["increased femur stiffness"], "score": 25.340452, "id_kw": "MP:0013637", "label_kw": ["increased femur stiffness"], "iri_kw": "http://purl.obolibrary.org/obo/MP_0013637", "_version_": 1580845612868304900, "category_eng": ["Phenotype"], "iri_std": "http://purl.obolibrary.org/obo/MP_0013637", "id": "MP:0013637", "definition": ["increase in material stiffness (N/mm) during elastic deformation in the femur"], "label": ["increased femur stiffness"], "definition_eng": ["increase in material stiffness (N/mm) during elastic deformation in the femur"], "category": ["Phenotype"]}, {"synonym": ["Short fetal thigh bone length"], "leaf": true, "category_std": ["Phenotype"], "id_std": "HP:0011428", "iri": "http://purl.obolibrary.org/obo/HP_0011428", "label_eng": ["Short fetal femur length"], "definition_std": ["A short femur length is defined as either a measurement below the 2.5th percentile for gestational age or a measurement that is less than 0.9 of that predicted by the measured biparietal diameter. The femur should be measured with the bone perpendicular to the ultrasound beam and with epiphyseal cartilages visible but not included in the measurement (pmid:16100637)."], "id_eng": "HP:0011428", "definition_kw": ["A short femur length is defined as either a measurement below the 2.5th percentile for gestational age or a measurement that is less than 0.9 of that predicted by the measured biparietal diameter. The femur should be measured with the bone perpendicular to the ultrasound beam and with epiphyseal cartilages visible but not included in the measurement (pmid:16100637)."], "category_kw": ["Phenotype"], "iri_eng": "http://purl.obolibrary.org/obo/HP_0011428", "label_std": ["Short fetal femur length"], "synonym_eng": ["Short fetal thigh bone length"], "score": 25.340452, "id_kw": "HP:0011428", "label_kw": ["Short fetal femur length"], "iri_kw": "http://purl.obolibrary.org/obo/HP_0011428", "_version_": 1580845573433458690, "category_eng": ["Phenotype"], "iri_std": "http://purl.obolibrary.org/obo/HP_0011428", "id": "HP:0011428", "definition": ["A short femur length is defined as either a measurement below the 2.5th percentile for gestational age or a measurement that is less than 0.9 of that predicted by the measured biparietal diameter. The femur should be measured with the bone perpendicular to the ultrasound beam and with epiphyseal cartilages visible but not included in the measurement (pmid:16100637)."], "synonym_kw": ["Short fetal thigh bone length"], "synonym_std": ["Short fetal thigh bone length"], "label": ["Short fetal femur length"], "definition_eng": ["A short femur length is defined as either a measurement below the 2.5th percentile for gestational age or a measurement that is less than 0.9 of that predicted by the measured biparietal diameter. The femur should be measured with the bone perpendicular to the ultrasound beam and with epiphyseal cartilages visible but not included in the measurement (pmid:16100637)."], "category": ["Phenotype"]}, {"equivalent_curie_eng": ["_:6de9cdbcfbbc13393d6cd8911456eb21"], "leaf": false, "category_std": ["Phenotype"], "id_std": "UBERON:0004412PHENOTYPE", "iri": "http://purl.obolibrary.org/obo/UBERON_0004412PHENOTYPE", "equivalent_iri_kw": ["_:6de9cdbcfbbc13393d6cd8911456eb21"], "label_eng": ["proximal epiphysis of femur phenotype"], "definition_std": ["Any phenotype involving proximal epiphysis of femur."], "id_eng": "UBERON:0004412PHENOTYPE", "definition_kw": ["Any phenotype involving proximal epiphysis of femur."], "equivalent_iri_std": ["_:6de9cdbcfbbc13393d6cd8911456eb21"], "category_kw": ["Phenotype"], "iri_eng": "http://purl.obolibrary.org/obo/UBERON_0004412PHENOTYPE", "label_std": ["proximal epiphysis of femur phenotype"], "equivalent_curie": ["_:6de9cdbcfbbc13393d6cd8911456eb21"], "equivalent_curie_kw": ["_:6de9cdbcfbbc13393d6cd8911456eb21"], "score": 25.340452, "id_kw": "UBERON:0004412PHENOTYPE", "equivalent_iri_eng": ["_:6de9cdbcfbbc13393d6cd8911456eb21"], "label_kw": ["proximal epiphysis of femur phenotype"], "iri_kw": "http://purl.obolibrary.org/obo/UBERON_0004412PHENOTYPE", "equivalent_iri": ["_:6de9cdbcfbbc13393d6cd8911456eb21"], "_version_": 1580845617348870146, "category_eng": ["Phenotype"], "iri_std": "http://purl.obolibrary.org/obo/UBERON_0004412PHENOTYPE", "id": "UBERON:0004412PHENOTYPE", "definition": ["Any phenotype involving proximal epiphysis of femur."], "label": ["proximal epiphysis of femur phenotype"], "definition_eng": ["Any phenotype involving proximal epiphysis of femur."], "equivalent_curie_std": ["_:6de9cdbcfbbc13393d6cd8911456eb21"], "category": ["Phenotype"]}, {"equivalent_curie_eng": ["_:5ec2fecab0f76479a24fa64e484ad832"], "leaf": false, "category_std": ["Phenotype"], "id_std": "UBERON:0006865PHENOTYPE", "iri": "http://purl.obolibrary.org/obo/UBERON_0006865PHENOTYPE", "equivalent_iri_kw": ["_:5ec2fecab0f76479a24fa64e484ad832"], "label_eng": ["metaphysis of femur phenotype"], "definition_std": ["Any phenotype involving metaphysis of femur."], "id_eng": "UBERON:0006865PHENOTYPE", "definition_kw": ["Any phenotype involving metaphysis of femur."], "equivalent_iri_std": ["_:5ec2fecab0f76479a24fa64e484ad832"], "category_kw": ["Phenotype"], "iri_eng": "http://purl.obolibrary.org/obo/UBERON_0006865PHENOTYPE", "label_std": ["metaphysis of femur phenotype"], "equivalent_curie": ["_:5ec2fecab0f76479a24fa64e484ad832"], "equivalent_curie_kw": ["_:5ec2fecab0f76479a24fa64e484ad832"], "score": 25.340452, "id_kw": "UBERON:0006865PHENOTYPE", "equivalent_iri_eng": ["_:5ec2fecab0f76479a24fa64e484ad832"], "label_kw": ["metaphysis of femur phenotype"], "iri_kw": "http://purl.obolibrary.org/obo/UBERON_0006865PHENOTYPE", "equivalent_iri": ["_:5ec2fecab0f76479a24fa64e484ad832"], "_version_": 1580845617540759554, "category_eng": ["Phenotype"], "iri_std": "http://purl.obolibrary.org/obo/UBERON_0006865PHENOTYPE", "id": "UBERON:0006865PHENOTYPE", "definition": ["Any phenotype involving metaphysis of femur."], "label": ["metaphysis of femur phenotype"], "definition_eng": ["Any phenotype involving metaphysis of femur."], "equivalent_curie_std": ["_:5ec2fecab0f76479a24fa64e484ad832"], "category": ["Phenotype"]}, {"equivalent_curie_eng": ["_:bc9926a250a53d63de9b077783c9b562"], "leaf": false, "category_std": ["Phenotype"], "id_std": "UBERON:0004406PHENOTYPE", "iri": "http://purl.obolibrary.org/obo/UBERON_0004406PHENOTYPE", "equivalent_iri_kw": ["_:bc9926a250a53d63de9b077783c9b562"], "label_eng": ["distal epiphysis of femur phenotype"], "definition_std": ["Any phenotype involving distal epiphysis of femur."], "id_eng": "UBERON:0004406PHENOTYPE", "definition_kw": ["Any phenotype involving distal epiphysis of femur."], "equivalent_iri_std": ["_:bc9926a250a53d63de9b077783c9b562"], "category_kw": ["Phenotype"], "iri_eng": "http://purl.obolibrary.org/obo/UBERON_0004406PHENOTYPE", "label_std": ["distal epiphysis of femur phenotype"], "equivalent_curie": ["_:bc9926a250a53d63de9b077783c9b562"], "equivalent_curie_kw": ["_:bc9926a250a53d63de9b077783c9b562"], "score": 25.340452, "id_kw": "UBERON:0004406PHENOTYPE", "equivalent_iri_eng": ["_:bc9926a250a53d63de9b077783c9b562"], "label_kw": ["distal epiphysis of femur phenotype"], "iri_kw": "http://purl.obolibrary.org/obo/UBERON_0004406PHENOTYPE", "equivalent_iri": ["_:bc9926a250a53d63de9b077783c9b562"], "_version_": 1580845618422611970, "category_eng": ["Phenotype"], "iri_std": "http://purl.obolibrary.org/obo/UBERON_0004406PHENOTYPE", "id": "UBERON:0004406PHENOTYPE", "definition": ["Any phenotype involving distal epiphysis of femur."], "label": ["distal epiphysis of femur phenotype"], "definition_eng": ["Any phenotype involving distal epiphysis of femur."], "equivalent_curie_std": ["_:bc9926a250a53d63de9b077783c9b562"], "category": ["Phenotype"]}, {"equivalent_curie_eng": ["_:cab66511811b61c6d3b0c55b84f9eaf4"], "leaf": false, "category_std": ["Phenotype"], "id_std": "UBERON:0006767PHENOTYPE", "iri": "http://purl.obolibrary.org/obo/UBERON_0006767PHENOTYPE", "equivalent_iri_kw": ["_:cab66511811b61c6d3b0c55b84f9eaf4"], "label_eng": ["head of femur phenotype"], "definition_std": ["Any phenotype involving head of femur."], "id_eng": "UBERON:0006767PHENOTYPE", "definition_kw": ["Any phenotype involving head of femur."], "equivalent_iri_std": ["_:cab66511811b61c6d3b0c55b84f9eaf4"], "category_kw": ["Phenotype"], "iri_eng": "http://purl.obolibrary.org/obo/UBERON_0006767PHENOTYPE", "label_std": ["head of femur phenotype"], "equivalent_curie": ["_:cab66511811b61c6d3b0c55b84f9eaf4"], "equivalent_curie_kw": ["_:cab66511811b61c6d3b0c55b84f9eaf4"], "score": 25.340452, "id_kw": "UBERON:0006767PHENOTYPE", "equivalent_iri_eng": ["_:cab66511811b61c6d3b0c55b84f9eaf4"], "label_kw": ["head of femur phenotype"], "iri_kw": "http://purl.obolibrary.org/obo/UBERON_0006767PHENOTYPE", "equivalent_iri": ["_:cab66511811b61c6d3b0c55b84f9eaf4"], "_version_": 1580845618473992194, "category_eng": ["Phenotype"], "iri_std": "http://purl.obolibrary.org/obo/UBERON_0006767PHENOTYPE", "id": "UBERON:0006767PHENOTYPE", "definition": ["Any phenotype involving head of femur."], "label": ["head of femur phenotype"], "definition_eng": ["Any phenotype involving head of femur."], "equivalent_curie_std": ["_:cab66511811b61c6d3b0c55b84f9eaf4"], "category": ["Phenotype"]}, {"equivalent_curie_eng": ["_:8d3f0b658a7c4446772f0539eaa25243"], "leaf": false, "category_std": ["Phenotype"], "id_std": "UBERON:0004384PHENOTYPE", "iri": "http://purl.obolibrary.org/obo/UBERON_0004384PHENOTYPE", "equivalent_iri_kw": ["_:8d3f0b658a7c4446772f0539eaa25243"], "label_eng": ["epiphysis of femur phenotype"], "definition_std": ["Any phenotype involving epiphysis of femur."], "id_eng": "UBERON:0004384PHENOTYPE", "definition_kw": ["Any phenotype involving epiphysis of femur."], "equivalent_iri_std": ["_:8d3f0b658a7c4446772f0539eaa25243"], "category_kw": ["Phenotype"], "iri_eng": "http://purl.obolibrary.org/obo/UBERON_0004384PHENOTYPE", "label_std": ["epiphysis of femur phenotype"], "equivalent_curie": ["_:8d3f0b658a7c4446772f0539eaa25243"], "equivalent_curie_kw": ["_:8d3f0b658a7c4446772f0539eaa25243"], "score": 25.340452, "id_kw": "UBERON:0004384PHENOTYPE", "equivalent_iri_eng": ["_:8d3f0b658a7c4446772f0539eaa25243"], "label_kw": ["epiphysis of femur phenotype"], "iri_kw": "http://purl.obolibrary.org/obo/UBERON_0004384PHENOTYPE", "equivalent_iri": ["_:8d3f0b658a7c4446772f0539eaa25243"], "_version_": 1580845618591432707, "category_eng": ["Phenotype"], "iri_std": "http://purl.obolibrary.org/obo/UBERON_0004384PHENOTYPE", "id": "UBERON:0004384PHENOTYPE", "definition": ["Any phenotype involving epiphysis of femur."], "label": ["epiphysis of femur phenotype"], "definition_eng": ["Any phenotype involving epiphysis of femur."], "equivalent_curie_std": ["_:8d3f0b658a7c4446772f0539eaa25243"], "category": ["Phenotype"]}, {"equivalent_curie_eng": ["_:70e4744caf0959de06ce979028b1e7d2"], "leaf": true, "category_std": ["Phenotype"], "id_std": "UBERON:0010129PHENOTYPE", "iri": "http://purl.obolibrary.org/obo/UBERON_0010129PHENOTYPE", "equivalent_iri_kw": ["_:70e4744caf0959de06ce979028b1e7d2"], "label_eng": ["femur cartilage element phenotype"], "definition_std": ["Any phenotype involving femur cartilage element."], "id_eng": "UBERON:0010129PHENOTYPE", "definition_kw": ["Any phenotype involving femur cartilage element."], "equivalent_iri_std": ["_:70e4744caf0959de06ce979028b1e7d2"], "category_kw": ["Phenotype"], "iri_eng": "http://purl.obolibrary.org/obo/UBERON_0010129PHENOTYPE", "label_std": ["femur cartilage element phenotype"], "equivalent_curie": ["_:70e4744caf0959de06ce979028b1e7d2"], "equivalent_curie_kw": ["_:70e4744caf0959de06ce979028b1e7d2"], "score": 25.340452, "id_kw": "UBERON:0010129PHENOTYPE", "equivalent_iri_eng": ["_:70e4744caf0959de06ce979028b1e7d2"], "label_kw": ["femur cartilage element phenotype"], "iri_kw": "http://purl.obolibrary.org/obo/UBERON_0010129PHENOTYPE", "equivalent_iri": ["_:70e4744caf0959de06ce979028b1e7d2"], "_version_": 1580845619547734017, "category_eng": ["Phenotype"], "iri_std": "http://purl.obolibrary.org/obo/UBERON_0010129PHENOTYPE", "id": "UBERON:0010129PHENOTYPE", "definition": ["Any phenotype involving femur cartilage element."], "label": ["femur cartilage element phenotype"], "definition_eng": ["Any phenotype involving femur cartilage element."], "equivalent_curie_std": ["_:70e4744caf0959de06ce979028b1e7d2"], "category": ["Phenotype"]}, {"equivalent_curie_eng": ["_:6a7bdda91d9a8205704c8ede22b56e80"], "leaf": false, "category_std": ["Phenotype"], "id_std": "UBERON:0006862PHENOTYPE", "iri": "http://purl.obolibrary.org/obo/UBERON_0006862PHENOTYPE", "equivalent_iri_kw": ["_:6a7bdda91d9a8205704c8ede22b56e80"], "label_eng": ["diaphysis of femur phenotype"], "definition_std": ["Any phenotype involving diaphysis of femur."], "id_eng": "UBERON:0006862PHENOTYPE", "definition_kw": ["Any phenotype involving diaphysis of femur."], "equivalent_iri_std": ["_:6a7bdda91d9a8205704c8ede22b56e80"], "category_kw": ["Phenotype"], "iri_eng": "http://purl.obolibrary.org/obo/UBERON_0006862PHENOTYPE", "label_std": ["diaphysis of femur phenotype"], "equivalent_curie": ["_:6a7bdda91d9a8205704c8ede22b56e80"], "equivalent_curie_kw": ["_:6a7bdda91d9a8205704c8ede22b56e80"], "score": 25.340452, "id_kw": "UBERON:0006862PHENOTYPE", "equivalent_iri_eng": ["_:6a7bdda91d9a8205704c8ede22b56e80"], "label_kw": ["diaphysis of femur phenotype"], "iri_kw": "http://purl.obolibrary.org/obo/UBERON_0006862PHENOTYPE", "equivalent_iri": ["_:6a7bdda91d9a8205704c8ede22b56e80"], "_version_": 1580845619983941634, "category_eng": ["Phenotype"], "iri_std": "http://purl.obolibrary.org/obo/UBERON_0006862PHENOTYPE", "id": "UBERON:0006862PHENOTYPE", "definition": ["Any phenotype involving diaphysis of femur."], "label": ["diaphysis of femur phenotype"], "definition_eng": ["Any phenotype involving diaphysis of femur."], "equivalent_curie_std": ["_:6a7bdda91d9a8205704c8ede22b56e80"], "category": ["Phenotype"]}, {"equivalent_curie_eng": ["_:01eddcfffeadf2d0f9c00a7d612c8937"], "leaf": false, "category_std": ["Phenotype"], "id_std": "UBERON:0007119PHENOTYPE", "iri": "http://purl.obolibrary.org/obo/UBERON_0007119PHENOTYPE", "equivalent_iri_kw": ["_:01eddcfffeadf2d0f9c00a7d612c8937"], "label_eng": ["neck of femur phenotype"], "definition_std": ["Any phenotype involving neck of femur."], "id_eng": "UBERON:0007119PHENOTYPE", "definition_kw": ["Any phenotype involving neck of femur."], "equivalent_iri_std": ["_:01eddcfffeadf2d0f9c00a7d612c8937"], "category_kw": ["Phenotype"], "iri_eng": "http://purl.obolibrary.org/obo/UBERON_0007119PHENOTYPE", "label_std": ["neck of femur phenotype"], "equivalent_curie": ["_:01eddcfffeadf2d0f9c00a7d612c8937"], "equivalent_curie_kw": ["_:01eddcfffeadf2d0f9c00a7d612c8937"], "score": 25.340452, "id_kw": "UBERON:0007119PHENOTYPE", "equivalent_iri_eng": ["_:01eddcfffeadf2d0f9c00a7d612c8937"], "label_kw": ["neck of femur phenotype"], "iri_kw": "http://purl.obolibrary.org/obo/UBERON_0007119PHENOTYPE", "equivalent_iri": ["_:01eddcfffeadf2d0f9c00a7d612c8937"], "_version_": 1580845602180169730, "category_eng": ["Phenotype"], "iri_std": "http://purl.obolibrary.org/obo/UBERON_0007119PHENOTYPE", "id": "UBERON:0007119PHENOTYPE", "definition": ["Any phenotype involving neck of femur."], "label": ["neck of femur phenotype"], "definition_eng": ["Any phenotype involving neck of femur."], "equivalent_curie_std": ["_:01eddcfffeadf2d0f9c00a7d612c8937"], "category": ["Phenotype"]}, {"equivalent_curie_eng": ["_:e84d0a75799a7db220a5720a8251c3f2"], "leaf": false, "category_std": ["Phenotype"], "id_std": "UBERON:0006864PHENOTYPE", "iri": "http://purl.obolibrary.org/obo/UBERON_0006864PHENOTYPE", "equivalent_iri_kw": ["_:e84d0a75799a7db220a5720a8251c3f2"], "label_eng": ["distal metaphysis of femur phenotype"], "definition_std": ["Any phenotype involving distal metaphysis of femur."], "id_eng": "UBERON:0006864PHENOTYPE", "definition_kw": ["Any phenotype involving distal metaphysis of femur."], "equivalent_iri_std": ["_:e84d0a75799a7db220a5720a8251c3f2"], "category_kw": ["Phenotype"], "iri_eng": "http://purl.obolibrary.org/obo/UBERON_0006864PHENOTYPE", "label_std": ["distal metaphysis of femur phenotype"], "equivalent_curie": ["_:e84d0a75799a7db220a5720a8251c3f2"], "equivalent_curie_kw": ["_:e84d0a75799a7db220a5720a8251c3f2"], "score": 25.340452, "id_kw": "UBERON:0006864PHENOTYPE", "equivalent_iri_eng": ["_:e84d0a75799a7db220a5720a8251c3f2"], "label_kw": ["distal metaphysis of femur phenotype"], "iri_kw": "http://purl.obolibrary.org/obo/UBERON_0006864PHENOTYPE", "equivalent_iri": ["_:e84d0a75799a7db220a5720a8251c3f2"], "_version_": 1580845602441265153, "category_eng": ["Phenotype"], "iri_std": "http://purl.obolibrary.org/obo/UBERON_0006864PHENOTYPE", "id": "UBERON:0006864PHENOTYPE", "definition": ["Any phenotype involving distal metaphysis of femur."], "label": ["distal metaphysis of femur phenotype"], "definition_eng": ["Any phenotype involving distal metaphysis of femur."], "equivalent_curie_std": ["_:e84d0a75799a7db220a5720a8251c3f2"], "category": ["Phenotype"]}, {"leaf": true, "category_std": ["Phenotype"], "id_std": "VT:0004371", "iri": "http://purl.obolibrary.org/obo/VT_0004371", "label_eng": ["femur curvature trait"], "definition_std": ["Any measurable or observable characteristic related to the degree or shape of the bend in the long bone of the thigh."], "id_eng": "VT:0004371", "definition_kw": ["Any measurable or observable characteristic related to the degree or shape of the bend in the long bone of the thigh."], "category_kw": ["Phenotype"], "iri_eng": "http://purl.obolibrary.org/obo/VT_0004371", "label_std": ["femur curvature trait"], "score": 25.340452, "id_kw": "VT:0004371", "label_kw": ["femur curvature trait"], "iri_kw": "http://purl.obolibrary.org/obo/VT_0004371", "_version_": 1580845604496474115, "category_eng": ["Phenotype"], "iri_std": "http://purl.obolibrary.org/obo/VT_0004371", "id": "VT:0004371", "definition": ["Any measurable or observable characteristic related to the degree or shape of the bend in the long bone of the thigh."], "label": ["femur curvature trait"], "definition_eng": ["Any measurable or observable characteristic related to the degree or shape of the bend in the long bone of the thigh."], "category": ["Phenotype"]}, {"label_std": ["Congenital pseudoarthrosis of the femur"], "label_kw": ["Congenital pseudoarthrosis of the femur"], "leaf": true, "category_std": ["disease"], "id_std": "Orphanet:295020", "iri": "http://www.orpha.net/ORDO/Orphanet_295020", "iri_eng": "http://www.orpha.net/ORDO/Orphanet_295020", "label_eng": ["Congenital pseudoarthrosis of the femur"], "iri_kw": "http://www.orpha.net/ORDO/Orphanet_295020", "id_eng": "Orphanet:295020", "category_eng": ["disease"], "iri_std": "http://www.orpha.net/ORDO/Orphanet_295020", "id": "Orphanet:295020", "category_kw": ["disease"], "label": ["Congenital pseudoarthrosis of the femur"], "score": 25.340452, "_version_": 1580845604746035204, "id_kw": "Orphanet:295020", "category": ["disease"]}, {"synonym": ["Erlenmeyer flask femora", "Erlenmeyer flask shaped thighbone", "Erlenmeyer flask deformity of distal femur"], "leaf": true, "category_std": ["Phenotype"], "id_std": "HP:0004975", "iri": "http://purl.obolibrary.org/obo/HP_0004975", "label_eng": ["Erlenmeyer flask deformity of the femurs"], "definition_std": ["Flaring of distal femur."], "id_eng": "HP:0004975", "definition_kw": ["Flaring of distal femur."], "category_kw": ["Phenotype"], "iri_eng": "http://purl.obolibrary.org/obo/HP_0004975", "label_std": ["Erlenmeyer flask deformity of the femurs"], "synonym_eng": ["Erlenmeyer flask femora", "Erlenmeyer flask shaped thighbone", "Erlenmeyer flask deformity of distal femur"], "score": 25.270815, "id_kw": "HP:0004975", "label_kw": ["Erlenmeyer flask deformity of the femurs"], "iri_kw": "http://purl.obolibrary.org/obo/HP_0004975", "_version_": 1580845592598282241, "category_eng": ["Phenotype"], "iri_std": "http://purl.obolibrary.org/obo/HP_0004975", "id": "HP:0004975", "definition": ["Flaring of distal femur."], "synonym_kw": ["Erlenmeyer flask femora", "Erlenmeyer flask shaped thighbone", "Erlenmeyer flask deformity of distal femur"], "synonym_std": ["Erlenmeyer flask femora", "Erlenmeyer flask shaped thighbone", "Erlenmeyer flask deformity of distal femur"], "label": ["Erlenmeyer flask deformity of the femurs"], "definition_eng": ["Flaring of distal femur."], "category": ["Phenotype"]}, {"label_std": ["Luxate femur", "Hip dysplasia in rabbit"], "label_kw": ["Luxate femur", "Hip dysplasia in rabbit"], "leaf": true, "category_std": ["disease"], "id_std": "OMIA:000473-9986", "iri": "http://purl.obolibrary.org/obo/OMIA_000473-9986", "iri_eng": "http://purl.obolibrary.org/obo/OMIA_000473-9986", "label_eng": ["Luxate femur", "Hip dysplasia in rabbit"], "iri_kw": "http://purl.obolibrary.org/obo/OMIA_000473-9986", "id_eng": "OMIA:000473-9986", "category_eng": ["disease"], "iri_std": "http://purl.obolibrary.org/obo/OMIA_000473-9986", "id": "OMIA:000473-9986", "category_kw": ["disease"], "label": ["Luxate femur", "Hip dysplasia in rabbit"], "score": 23.541348, "_version_": 1580845547974033408, "id_kw": "OMIA:000473-9986", "category": ["disease"]}, {"equivalent_curie_eng": ["UMLS:C4274970"], "leaf": true, "category_std": ["disease"], "id_std": "Orphanet:168621", "iri": "http://www.orpha.net/ORDO/Orphanet_168621", "equivalent_iri_kw": ["http://purl.obolibrary.org/obo/UMLS_C4274970"], "label_eng": ["Dysplasia of head of femur, Meyer type"], "definition_std": ["Meyer dysplasia of the femoral head is a mild localized form of skeletal dysplasia characterized by delayed, irregular ossification of femoral capital epiphysis."], "id_eng": "Orphanet:168621", "definition_kw": ["Meyer dysplasia of the femoral head is a mild localized form of skeletal dysplasia characterized by delayed, irregular ossification of femoral capital epiphysis."], "equivalent_iri_std": ["http://purl.obolibrary.org/obo/UMLS_C4274970"], "category_kw": ["disease"], "iri_eng": "http://www.orpha.net/ORDO/Orphanet_168621", "label_std": ["Dysplasia of head of femur, Meyer type"], "equivalent_curie": ["UMLS:C4274970"], "equivalent_curie_kw": ["UMLS:C4274970"], "score": 23.541348, "id_kw": "Orphanet:168621", "equivalent_iri_eng": ["http://purl.obolibrary.org/obo/UMLS_C4274970"], "label_kw": ["Dysplasia of head of femur, Meyer type"], "iri_kw": "http://www.orpha.net/ORDO/Orphanet_168621", "equivalent_iri": ["http://purl.obolibrary.org/obo/UMLS_C4274970"], "_version_": 1580845609252814850, "category_eng": ["disease"], "iri_std": "http://www.orpha.net/ORDO/Orphanet_168621", "id": "Orphanet:168621", "definition": ["Meyer dysplasia of the femoral head is a mild localized form of skeletal dysplasia characterized by delayed, irregular ossification of femoral capital epiphysis."], "label": ["Dysplasia of head of femur, Meyer type"], "definition_eng": ["Meyer dysplasia of the femoral head is a mild localized form of skeletal dysplasia characterized by delayed, irregular ossification of femoral capital epiphysis."], "equivalent_curie_std": ["UMLS:C4274970"], "category": ["disease"]}, {"equivalent_curie_eng": ["_:12f24c672f703d52ee2fd7ac7c4454f9"], "leaf": true, "category_std": ["Phenotype"], "id_std": "UBERON:0006234PHENOTYPE", "iri": "http://purl.obolibrary.org/obo/UBERON_0006234PHENOTYPE", "equivalent_iri_kw": ["_:12f24c672f703d52ee2fd7ac7c4454f9"], "label_eng": ["femur pre-cartilage condensation phenotype"], "definition_std": ["Any phenotype involving femur pre-cartilage condensation."], "id_eng": "UBERON:0006234PHENOTYPE", "definition_kw": ["Any phenotype involving femur pre-cartilage condensation."], "equivalent_iri_std": ["_:12f24c672f703d52ee2fd7ac7c4454f9"], "category_kw": ["Phenotype"], "iri_eng": "http://purl.obolibrary.org/obo/UBERON_0006234PHENOTYPE", "label_std": ["femur pre-cartilage condensation phenotype"], "equivalent_curie": ["_:12f24c672f703d52ee2fd7ac7c4454f9"], "equivalent_curie_kw": ["_:12f24c672f703d52ee2fd7ac7c4454f9"], "score": 23.541348, "id_kw": "UBERON:0006234PHENOTYPE", "equivalent_iri_eng": ["_:12f24c672f703d52ee2fd7ac7c4454f9"], "label_kw": ["femur pre-cartilage condensation phenotype"], "iri_kw": "http://purl.obolibrary.org/obo/UBERON_0006234PHENOTYPE", "equivalent_iri": ["_:12f24c672f703d52ee2fd7ac7c4454f9"], "_version_": 1580845613254180865, "category_eng": ["Phenotype"], "iri_std": "http://purl.obolibrary.org/obo/UBERON_0006234PHENOTYPE", "id": "UBERON:0006234PHENOTYPE", "definition": ["Any phenotype involving femur pre-cartilage condensation."], "label": ["femur pre-cartilage condensation phenotype"], "definition_eng": ["Any phenotype involving femur pre-cartilage condensation."], "equivalent_curie_std": ["_:12f24c672f703d52ee2fd7ac7c4454f9"], "category": ["Phenotype"]}, {"synonym": ["Thanatophoric Dysplasia, Type Ii", "Cloverleaf Skull With Thanatophoric Dwarfism", "TD2", "Cloverleaf skull with thanatophoric dwarfism", "THANATOPHORIC DYSPLASIA, TYPE II; TD2", "Thanatophoric Dysplasia With Straight Femurs and Cloverleaf Skull", "Thanatophoric Dysplasia With Kleeblattschaedel", "Thanatophoric dwarfism-cloverleaf skull syndrome", "Thanatophoric dysplasia with Kleeblattschaedel", "Cloverleaf skull-micromelic bone dysplasia syndrome", "Thanatophoric Dysplasia With Straight Femurs And Cloverleaf Skull", "Thanatophoric dwarfism type 2"], "equivalent_curie_eng": ["Orphanet:93274", "UMLS:C1300257", "MESH:C536508"], "leaf": false, "category_std": ["disease"], "id_std": "OMIM:187601", "iri": "http://purl.obolibrary.org/obo/OMIM_187601", "equivalent_iri_kw": ["http://www.orpha.net/ORDO/Orphanet_93274", "http://purl.obolibrary.org/obo/UMLS_C1300257", "http://purl.obolibrary.org/obo/MESH_C536508"], "label_eng": ["Thanatophoric dysplasia, type 2", "Thanatophoric Dysplasia, Type 2", "Thanatophoric dysplasia type 2"], "definition_std": ["Thanatophoric dysplasia is a severe short-limb dwarfism syndrome that is usually lethal in the perinatal period. {7:Norman et al. (1992)} classified cases of TD into subtypes based on the presence of curved as opposed to straight femurs; patients with straight, relatively long femurs always had associated severe cloverleaf skull and were designated TD type II (TD2), whereas TD cases with curved, short femurs with or without cloverleaf skull were designated TD type I (TD1; OMIM:187600) ({4:Langer et al., 1987}).", ")."], "id_eng": "OMIM:187601", "definition_kw": ["Thanatophoric dysplasia is a severe short-limb dwarfism syndrome that is usually lethal in the perinatal period. {7:Norman et al. (1992)} classified cases of TD into subtypes based on the presence of curved as opposed to straight femurs; patients with straight, relatively long femurs always had associated severe cloverleaf skull and were designated TD type II (TD2), whereas TD cases with curved, short femurs with or without cloverleaf skull were designated TD type I (TD1; OMIM:187600) ({4:Langer et al., 1987}).", ")."], "equivalent_iri_std": ["http://www.orpha.net/ORDO/Orphanet_93274", "http://purl.obolibrary.org/obo/UMLS_C1300257", "http://purl.obolibrary.org/obo/MESH_C536508"], "category_kw": ["disease"], "iri_eng": "http://purl.obolibrary.org/obo/OMIM_187601", "label_std": ["Thanatophoric dysplasia, type 2", "Thanatophoric Dysplasia, Type 2", "Thanatophoric dysplasia type 2"], "equivalent_curie": ["Orphanet:93274", "UMLS:C1300257", "MESH:C536508"], "equivalent_curie_kw": ["Orphanet:93274", "UMLS:C1300257", "MESH:C536508"], "synonym_eng": ["Thanatophoric Dysplasia, Type Ii", "Cloverleaf Skull With Thanatophoric Dwarfism", "TD2", "Cloverleaf skull with thanatophoric dwarfism", "THANATOPHORIC DYSPLASIA, TYPE II; TD2", "Thanatophoric Dysplasia With Straight Femurs and Cloverleaf Skull", "Thanatophoric Dysplasia With Kleeblattschaedel", "Thanatophoric dwarfism-cloverleaf skull syndrome", "Thanatophoric dysplasia with Kleeblattschaedel", "Cloverleaf skull-micromelic bone dysplasia syndrome", "Thanatophoric Dysplasia With Straight Femurs And Cloverleaf Skull", "Thanatophoric dwarfism type 2"], "score": 21.907625, "id_kw": "OMIM:187601", "equivalent_iri_eng": ["http://www.orpha.net/ORDO/Orphanet_93274", "http://purl.obolibrary.org/obo/UMLS_C1300257", "http://purl.obolibrary.org/obo/MESH_C536508"], "label_kw": ["Thanatophoric dysplasia, type 2", "Thanatophoric Dysplasia, Type 2", "Thanatophoric dysplasia type 2"], "iri_kw": "http://purl.obolibrary.org/obo/OMIM_187601", "equivalent_iri": ["http://www.orpha.net/ORDO/Orphanet_93274", "http://purl.obolibrary.org/obo/UMLS_C1300257", "http://purl.obolibrary.org/obo/MESH_C536508"], "_version_": 1580845511568523264, "category_eng": ["disease"], "iri_std": "http://purl.obolibrary.org/obo/OMIM_187601", "id": "OMIM:187601", "definition": ["Thanatophoric dysplasia is a severe short-limb dwarfism syndrome that is usually lethal in the perinatal period. {7:Norman et al. (1992)} classified cases of TD into subtypes based on the presence of curved as opposed to straight femurs; patients with straight, relatively long femurs always had associated severe cloverleaf skull and were designated TD type II (TD2), whereas TD cases with curved, short femurs with or without cloverleaf skull were designated TD type I (TD1; OMIM:187600) ({4:Langer et al., 1987}).", ")."], "synonym_kw": ["Thanatophoric Dysplasia, Type Ii", "Cloverleaf Skull With Thanatophoric Dwarfism", "TD2", "Cloverleaf skull with thanatophoric dwarfism", "THANATOPHORIC DYSPLASIA, TYPE II; TD2", "Thanatophoric Dysplasia With Straight Femurs and Cloverleaf Skull", "Thanatophoric Dysplasia With Kleeblattschaedel", "Thanatophoric dwarfism-cloverleaf skull syndrome", "Thanatophoric dysplasia with Kleeblattschaedel", "Cloverleaf skull-micromelic bone dysplasia syndrome", "Thanatophoric Dysplasia With Straight Femurs And Cloverleaf Skull", "Thanatophoric dwarfism type 2"], "synonym_std": ["Thanatophoric Dysplasia, Type Ii", "Cloverleaf Skull With Thanatophoric Dwarfism", "TD2", "Cloverleaf skull with thanatophoric dwarfism", "THANATOPHORIC DYSPLASIA, TYPE II; TD2", "Thanatophoric Dysplasia With Straight Femurs and Cloverleaf Skull", "Thanatophoric Dysplasia With Kleeblattschaedel", "Thanatophoric dwarfism-cloverleaf skull syndrome", "Thanatophoric dysplasia with Kleeblattschaedel", "Cloverleaf skull-micromelic bone dysplasia syndrome", "Thanatophoric Dysplasia With Straight Femurs And Cloverleaf Skull", "Thanatophoric dwarfism type 2"], "label": ["Thanatophoric dysplasia, type 2", "Thanatophoric Dysplasia, Type 2", "Thanatophoric dysplasia type 2"], "definition_eng": ["Thanatophoric dysplasia is a severe short-limb dwarfism syndrome that is usually lethal in the perinatal period. {7:Norman et al. (1992)} classified cases of TD into subtypes based on the presence of curved as opposed to straight femurs; patients with straight, relatively long femurs always had associated severe cloverleaf skull and were designated TD type II (TD2), whereas TD cases with curved, short femurs with or without cloverleaf skull were designated TD type I (TD1; OMIM:187600) ({4:Langer et al., 1987}).", ")."], "equivalent_curie_std": ["Orphanet:93274", "UMLS:C1300257", "MESH:C536508"], "category": ["disease"]}, {"synonym": ["Thanatophoric Dysplasia", "TD1", "Platyspondylic Lethal Skeletal Dysplasia, San Diego Type", "Thanatophoric Dwarfism", "THANATOPHORIC DYSPLASIA, TYPE I; TD1", "Lethal Short-Limbed Platyspondylic Dwarfism, San Diego Type", "Thanatophoric dwarfism type 1"], "equivalent_curie_eng": ["Orphanet:1860", "UMLS:C1300256", "MESH:C566844"], "leaf": true, "category_std": ["disease"], "id_std": "OMIM:187600", "iri": "http://purl.obolibrary.org/obo/OMIM_187600", "equivalent_iri_kw": ["http://www.orpha.net/ORDO/Orphanet_1860", "http://purl.obolibrary.org/obo/UMLS_C1300256", "http://purl.obolibrary.org/obo/MESH_C566844"], "label_eng": ["Thanatophoric dysplasia type 1", "Thanatophoric Dysplasia, Type 1"], "definition_std": ["Thanatophoric dysplasia is a severe short-limb dwarfism syndrome that is usually lethal in the perinatal period. {36:Norman et al. (1992)} classified cases of TD into subtypes based on the presence of curved as opposed to straight femurs; patients with straight, relatively long femurs always had associated severe cloverleaf skull and were designated TD type II (TD2), while TD cases with curved, short femurs with or without cloverleaf skull were designated TD type I (TD1) ({28:Langer et al., 1987}).", "Thanatophoric dysplasia type 1 (TD1) is a form of TD (see this term) characterized by short, bowed femurs, micromelia, narrow thorax, and brachydactyly."], "id_eng": "OMIM:187600", "definition_kw": ["Thanatophoric dysplasia is a severe short-limb dwarfism syndrome that is usually lethal in the perinatal period. {36:Norman et al. (1992)} classified cases of TD into subtypes based on the presence of curved as opposed to straight femurs; patients with straight, relatively long femurs always had associated severe cloverleaf skull and were designated TD type II (TD2), while TD cases with curved, short femurs with or without cloverleaf skull were designated TD type I (TD1) ({28:Langer et al., 1987}).", "Thanatophoric dysplasia type 1 (TD1) is a form of TD (see this term) characterized by short, bowed femurs, micromelia, narrow thorax, and brachydactyly."], "equivalent_iri_std": ["http://www.orpha.net/ORDO/Orphanet_1860", "http://purl.obolibrary.org/obo/UMLS_C1300256", "http://purl.obolibrary.org/obo/MESH_C566844"], "category_kw": ["disease"], "iri_eng": "http://purl.obolibrary.org/obo/OMIM_187600", "label_std": ["Thanatophoric dysplasia type 1", "Thanatophoric Dysplasia, Type 1"], "equivalent_curie": ["Orphanet:1860", "UMLS:C1300256", "MESH:C566844"], "equivalent_curie_kw": ["Orphanet:1860", "UMLS:C1300256", "MESH:C566844"], "synonym_eng": ["Thanatophoric Dysplasia", "TD1", "Platyspondylic Lethal Skeletal Dysplasia, San Diego Type", "Thanatophoric Dwarfism", "THANATOPHORIC DYSPLASIA, TYPE I; TD1", "Lethal Short-Limbed Platyspondylic Dwarfism, San Diego Type", "Thanatophoric dwarfism type 1"], "score": 21.242983, "id_kw": "OMIM:187600", "equivalent_iri_eng": ["http://www.orpha.net/ORDO/Orphanet_1860", "http://purl.obolibrary.org/obo/UMLS_C1300256", "http://purl.obolibrary.org/obo/MESH_C566844"], "label_kw": ["Thanatophoric dysplasia type 1", "Thanatophoric Dysplasia, Type 1"], "iri_kw": "http://purl.obolibrary.org/obo/OMIM_187600", "equivalent_iri": ["http://www.orpha.net/ORDO/Orphanet_1860", "http://purl.obolibrary.org/obo/UMLS_C1300256", "http://purl.obolibrary.org/obo/MESH_C566844"], "_version_": 1580845511563280384, "category_eng": ["disease"], "iri_std": "http://purl.obolibrary.org/obo/OMIM_187600", "id": "OMIM:187600", "definition": ["Thanatophoric dysplasia is a severe short-limb dwarfism syndrome that is usually lethal in the perinatal period. {36:Norman et al. (1992)} classified cases of TD into subtypes based on the presence of curved as opposed to straight femurs; patients with straight, relatively long femurs always had associated severe cloverleaf skull and were designated TD type II (TD2), while TD cases with curved, short femurs with or without cloverleaf skull were designated TD type I (TD1) ({28:Langer et al., 1987}).", "Thanatophoric dysplasia type 1 (TD1) is a form of TD (see this term) characterized by short, bowed femurs, micromelia, narrow thorax, and brachydactyly."], "synonym_kw": ["Thanatophoric Dysplasia", "TD1", "Platyspondylic Lethal Skeletal Dysplasia, San Diego Type", "Thanatophoric Dwarfism", "THANATOPHORIC DYSPLASIA, TYPE I; TD1", "Lethal Short-Limbed Platyspondylic Dwarfism, San Diego Type", "Thanatophoric dwarfism type 1"], "synonym_std": ["Thanatophoric Dysplasia", "TD1", "Platyspondylic Lethal Skeletal Dysplasia, San Diego Type", "Thanatophoric Dwarfism", "THANATOPHORIC DYSPLASIA, TYPE I; TD1", "Lethal Short-Limbed Platyspondylic Dwarfism, San Diego Type", "Thanatophoric dwarfism type 1"], "label": ["Thanatophoric dysplasia type 1", "Thanatophoric Dysplasia, Type 1"], "definition_eng": ["Thanatophoric dysplasia is a severe short-limb dwarfism syndrome that is usually lethal in the perinatal period. {36:Norman et al. (1992)} classified cases of TD into subtypes based on the presence of curved as opposed to straight femurs; patients with straight, relatively long femurs always had associated severe cloverleaf skull and were designated TD type II (TD2), while TD cases with curved, short femurs with or without cloverleaf skull were designated TD type I (TD1) ({28:Langer et al., 1987}).", "Thanatophoric dysplasia type 1 (TD1) is a form of TD (see this term) characterized by short, bowed femurs, micromelia, narrow thorax, and brachydactyly."], "equivalent_curie_std": ["Orphanet:1860", "UMLS:C1300256", "MESH:C566844"], "category": ["disease"]}, {"leaf": true, "category_std": ["Phenotype"], "id_std": "MP:0013646", "iri": "http://purl.obolibrary.org/obo/MP_0013646", "label_eng": ["decreased energy dissipated prior to femur fracture"], "definition_std": ["decrease in the fraction of total energy dissapated prior to ultimate material failure (high energy fracture) by the femur"], "id_eng": "MP:0013646", "definition_kw": ["decrease in the fraction of total energy dissapated prior to ultimate material failure (high energy fracture) by the femur"], "category_kw": ["Phenotype"], "iri_eng": "http://purl.obolibrary.org/obo/MP_0013646", "label_std": ["decreased energy dissipated prior to femur fracture"], "score": 21.22011, "id_kw": "MP:0013646", "label_kw": ["decreased energy dissipated prior to femur fracture"], "iri_kw": "http://purl.obolibrary.org/obo/MP_0013646", "_version_": 1580845590062825474, "category_eng": ["Phenotype"], "iri_std": "http://purl.obolibrary.org/obo/MP_0013646", "id": "MP:0013646", "definition": ["decrease in the fraction of total energy dissapated prior to ultimate material failure (high energy fracture) by the femur"], "label": ["decreased energy dissipated prior to femur fracture"], "definition_eng": ["decrease in the fraction of total energy dissapated prior to ultimate material failure (high energy fracture) by the femur"], "category": ["Phenotype"]}, {"leaf": true, "category_std": ["Phenotype"], "id_std": "MP:0013645", "iri": "http://purl.obolibrary.org/obo/MP_0013645", "label_eng": ["increased energy dissipated prior to femur fracture"], "definition_std": ["increase in the fraction of total energy dissapated prior to ultimate material failure (low energy fracture) by the femur"], "id_eng": "MP:0013645", "definition_kw": ["increase in the fraction of total energy dissapated prior to ultimate material failure (low energy fracture) by the femur"], "category_kw": ["Phenotype"], "iri_eng": "http://purl.obolibrary.org/obo/MP_0013645", "label_std": ["increased energy dissipated prior to femur fracture"], "score": 21.22011, "id_kw": "MP:0013645", "label_kw": ["increased energy dissipated prior to femur fracture"], "iri_kw": "http://purl.obolibrary.org/obo/MP_0013645", "_version_": 1580845612869353472, "category_eng": ["Phenotype"], "iri_std": "http://purl.obolibrary.org/obo/MP_0013645", "id": "MP:0013645", "definition": ["increase in the fraction of total energy dissapated prior to ultimate material failure (low energy fracture) by the femur"], "label": ["increased energy dissipated prior to femur fracture"], "definition_eng": ["increase in the fraction of total energy dissapated prior to ultimate material failure (low energy fracture) by the femur"], "category": ["Phenotype"]}, {"synonym": ["Coxa Varas, Adolescent", "Bilateral Slipped Capital Femoral Epiphyses", "Unilateral Slipped Capital Femoral Epiphysis", "SLIPPED FEMORAL CAPITAL EPIPHYSES", "Bilateral Slipped Capital Femoral Epiphysis", "Adolescent Coxa Vara", "Unilateral Slipped Capital Femoral Epiphyses", "Slipped Capital Femoral Epiphysis", "Slipped Femoral Capital Epiphyses", "Adolescent Coxa Varas", "Epiphysiolysis Capitis Femoris", "Coxa Vara, Adolescent"], "equivalent_curie_eng": ["UMLS:C0149887", "MESH:D060048"], "leaf": true, "category_std": ["disease"], "id_std": "OMIM:182260", "iri": "http://purl.obolibrary.org/obo/OMIM_182260", "equivalent_iri_kw": ["http://purl.obolibrary.org/obo/UMLS_C0149887", "http://purl.obolibrary.org/obo/MESH_D060048"], "label_eng": ["Slipped Femoral Capital Epiphyses"], "definition_std": ["A developmental deformity in which the metaphysis of the FEMUR moves proximally and anteriorly away from FEMUR HEAD (epiphysis) at the upper GROWTH PLATE. It is most common in male adolescents and is associated with a greater risk of early OSTEOARTHRITIS of the hip."], "id_eng": "OMIM:182260", "definition_kw": ["A developmental deformity in which the metaphysis of the FEMUR moves proximally and anteriorly away from FEMUR HEAD (epiphysis) at the upper GROWTH PLATE. It is most common in male adolescents and is associated with a greater risk of early OSTEOARTHRITIS of the hip."], "equivalent_iri_std": ["http://purl.obolibrary.org/obo/UMLS_C0149887", "http://purl.obolibrary.org/obo/MESH_D060048"], "category_kw": ["disease"], "iri_eng": "http://purl.obolibrary.org/obo/OMIM_182260", "label_std": ["Slipped Femoral Capital Epiphyses"], "equivalent_curie": ["UMLS:C0149887", "MESH:D060048"], "equivalent_curie_kw": ["UMLS:C0149887", "MESH:D060048"], "synonym_eng": ["Coxa Varas, Adolescent", "Bilateral Slipped Capital Femoral Epiphyses", "Unilateral Slipped Capital Femoral Epiphysis", "SLIPPED FEMORAL CAPITAL EPIPHYSES", "Bilateral Slipped Capital Femoral Epiphysis", "Adolescent Coxa Vara", "Unilateral Slipped Capital Femoral Epiphyses", "Slipped Capital Femoral Epiphysis", "Slipped Femoral Capital Epiphyses", "Adolescent Coxa Varas", "Epiphysiolysis Capitis Femoris", "Coxa Vara, Adolescent"], "score": 20.104584, "id_kw": "OMIM:182260", "equivalent_iri_eng": ["http://purl.obolibrary.org/obo/UMLS_C0149887", "http://purl.obolibrary.org/obo/MESH_D060048"], "label_kw": ["Slipped Femoral Capital Epiphyses"], "iri_kw": "http://purl.obolibrary.org/obo/OMIM_182260", "equivalent_iri": ["http://purl.obolibrary.org/obo/UMLS_C0149887", "http://purl.obolibrary.org/obo/MESH_D060048"], "_version_": 1580845550348009473, "category_eng": ["disease"], "iri_std": "http://purl.obolibrary.org/obo/OMIM_182260", "id": "OMIM:182260", "definition": ["A developmental deformity in which the metaphysis of the FEMUR moves proximally and anteriorly away from FEMUR HEAD (epiphysis) at the upper GROWTH PLATE. It is most common in male adolescents and is associated with a greater risk of early OSTEOARTHRITIS of the hip."], "synonym_kw": ["Coxa Varas, Adolescent", "Bilateral Slipped Capital Femoral Epiphyses", "Unilateral Slipped Capital Femoral Epiphysis", "SLIPPED FEMORAL CAPITAL EPIPHYSES", "Bilateral Slipped Capital Femoral Epiphysis", "Adolescent Coxa Vara", "Unilateral Slipped Capital Femoral Epiphyses", "Slipped Capital Femoral Epiphysis", "Slipped Femoral Capital Epiphyses", "Adolescent Coxa Varas", "Epiphysiolysis Capitis Femoris", "Coxa Vara, Adolescent"], "synonym_std": ["Coxa Varas, Adolescent", "Bilateral Slipped Capital Femoral Epiphyses", "Unilateral Slipped Capital Femoral Epiphysis", "SLIPPED FEMORAL CAPITAL EPIPHYSES", "Bilateral Slipped Capital Femoral Epiphysis", "Adolescent Coxa Vara", "Unilateral Slipped Capital Femoral Epiphyses", "Slipped Capital Femoral Epiphysis", "Slipped Femoral Capital Epiphyses", "Adolescent Coxa Varas", "Epiphysiolysis Capitis Femoris", "Coxa Vara, Adolescent"], "label": ["Slipped Femoral Capital Epiphyses"], "definition_eng": ["A developmental deformity in which the metaphysis of the FEMUR moves proximally and anteriorly away from FEMUR HEAD (epiphysis) at the upper GROWTH PLATE. It is most common in male adolescents and is associated with a greater risk of early OSTEOARTHRITIS of the hip."], "equivalent_curie_std": ["UMLS:C0149887", "MESH:D060048"], "category": ["disease"]}, {"synonym": ["Abnormality of thighbone end part"], "equivalent_curie_eng": ["_:fabb26e4306bb86f26ea3d6a0124910e"], "leaf": false, "category_std": ["Phenotype"], "id_std": "HP:0006499", "iri": "http://purl.obolibrary.org/obo/HP_0006499", "equivalent_iri_kw": ["_:fabb26e4306bb86f26ea3d6a0124910e"], "label_eng": ["Abnormality of femoral epiphysis"], "definition_std": ["An anomaly of a growth plate of a femur."], "id_eng": "HP:0006499", "definition_kw": ["An anomaly of a growth plate of a femur."], "equivalent_iri_std": ["_:fabb26e4306bb86f26ea3d6a0124910e"], "category_kw": ["Phenotype"], "iri_eng": "http://purl.obolibrary.org/obo/HP_0006499", "label_std": ["Abnormality of femoral epiphysis"], "equivalent_curie": ["_:fabb26e4306bb86f26ea3d6a0124910e"], "equivalent_curie_kw": ["_:fabb26e4306bb86f26ea3d6a0124910e"], "synonym_eng": ["Abnormality of thighbone end part"], "score": 20.035557, "id_kw": "HP:0006499", "equivalent_iri_eng": ["_:fabb26e4306bb86f26ea3d6a0124910e"], "label_kw": ["Abnormality of femoral epiphysis"], "iri_kw": "http://purl.obolibrary.org/obo/HP_0006499", "equivalent_iri": ["_:fabb26e4306bb86f26ea3d6a0124910e"], "_version_": 1580845592252252163, "category_eng": ["Phenotype"], "iri_std": "http://purl.obolibrary.org/obo/HP_0006499", "id": "HP:0006499", "definition": ["An anomaly of a growth plate of a femur."], "synonym_kw": ["Abnormality of thighbone end part"], "synonym_std": ["Abnormality of thighbone end part"], "label": ["Abnormality of femoral epiphysis"], "definition_eng": ["An anomaly of a growth plate of a femur."], "equivalent_curie_std": ["_:fabb26e4306bb86f26ea3d6a0124910e"], "category": ["Phenotype"]}, {"synonym": ["Flattended end part of thigh bone"], "leaf": false, "category_std": ["Phenotype"], "id_std": "HP:0030289", "iri": "http://purl.obolibrary.org/obo/HP_0030289", "label_eng": ["Flattened femoral epiphysis"], "definition_std": ["An abnormal flattening of an epiphysis of femur."], "id_eng": "HP:0030289", "definition_kw": ["An abnormal flattening of an epiphysis of femur."], "category_kw": ["Phenotype"], "iri_eng": "http://purl.obolibrary.org/obo/HP_0030289", "label_std": ["Flattened femoral epiphysis"], "synonym_eng": ["Flattended end part of thigh bone"], "score": 20.035557, "id_kw": "HP:0030289", "label_kw": ["Flattened femoral epiphysis"], "iri_kw": "http://purl.obolibrary.org/obo/HP_0030289", "_version_": 1580845609113354245, "category_eng": ["Phenotype"], "iri_std": "http://purl.obolibrary.org/obo/HP_0030289", "id": "HP:0030289", "definition": ["An abnormal flattening of an epiphysis of femur."], "synonym_kw": ["Flattended end part of thigh bone"], "synonym_std": ["Flattended end part of thigh bone"], "label": ["Flattened femoral epiphysis"], "definition_eng": ["An abnormal flattening of an epiphysis of femur."], "category": ["Phenotype"]}, {"synonym": ["Absent ossification of femoral capital epiphyses"], "equivalent_curie_eng": ["_:5d9694c3d621ecc5bd323c3aac15d768"], "leaf": true, "category_std": ["Phenotype"], "id_std": "HP:0008820", "iri": "http://purl.obolibrary.org/obo/HP_0008820", "equivalent_iri_kw": ["_:5d9694c3d621ecc5bd323c3aac15d768"], "label_eng": ["Absent ossification of capital femoral epiphysis"], "definition_std": ["Lack of ossification of the proximal epiphysis of the femur."], "id_eng": "HP:0008820", "definition_kw": ["Lack of ossification of the proximal epiphysis of the femur."], "equivalent_iri_std": ["_:5d9694c3d621ecc5bd323c3aac15d768"], "category_kw": ["Phenotype"], "iri_eng": "http://purl.obolibrary.org/obo/HP_0008820", "label_std": ["Absent ossification of capital femoral epiphysis"], "equivalent_curie": ["_:5d9694c3d621ecc5bd323c3aac15d768"], "equivalent_curie_kw": ["_:5d9694c3d621ecc5bd323c3aac15d768"], "synonym_eng": ["Absent ossification of femoral capital epiphyses"], "score": 19.631952, "id_kw": "HP:0008820", "equivalent_iri_eng": ["_:5d9694c3d621ecc5bd323c3aac15d768"], "label_kw": ["Absent ossification of capital femoral epiphysis"], "iri_kw": "http://purl.obolibrary.org/obo/HP_0008820", "equivalent_iri": ["_:5d9694c3d621ecc5bd323c3aac15d768"], "_version_": 1580845591157538821, "category_eng": ["Phenotype"], "iri_std": "http://purl.obolibrary.org/obo/HP_0008820", "id": "HP:0008820", "definition": ["Lack of ossification of the proximal epiphysis of the femur."], "synonym_kw": ["Absent ossification of femoral capital epiphyses"], "synonym_std": ["Absent ossification of femoral capital epiphyses"], "label": ["Absent ossification of capital femoral epiphysis"], "definition_eng": ["Lack of ossification of the proximal epiphysis of the femur."], "equivalent_curie_std": ["_:5d9694c3d621ecc5bd323c3aac15d768"], "category": ["Phenotype"]}, {"synonym": ["Small femoral capital epiphyses", "Small innermost thighbone end part", "Small proximal femoral epiphyses", "Underdevelopment of the innermost thighbone end part", "Small capital femoral epiphyses"], "equivalent_curie_eng": ["_:d2ca0ddb17029453b6da9a670660497a"], "leaf": true, "category_std": ["Phenotype"], "id_std": "HP:0003090", "iri": "http://purl.obolibrary.org/obo/HP_0003090", "equivalent_iri_kw": ["_:d2ca0ddb17029453b6da9a670660497a"], "label_eng": ["Hypoplasia of the capital femoral epiphysis"], "definition_std": ["Underdevelopment of the proximal epiphysis of the femur."], "id_eng": "HP:0003090", "definition_kw": ["Underdevelopment of the proximal epiphysis of the femur."], "equivalent_iri_std": ["_:d2ca0ddb17029453b6da9a670660497a"], "category_kw": ["Phenotype"], "iri_eng": "http://purl.obolibrary.org/obo/HP_0003090", "label_std": ["Hypoplasia of the capital femoral epiphysis"], "equivalent_curie": ["_:d2ca0ddb17029453b6da9a670660497a"], "equivalent_curie_kw": ["_:d2ca0ddb17029453b6da9a670660497a"], "synonym_eng": ["Small femoral capital epiphyses", "Small innermost thighbone end part", "Small proximal femoral epiphyses", "Underdevelopment of the innermost thighbone end part", "Small capital femoral epiphyses"], "score": 19.631952, "id_kw": "HP:0003090", "equivalent_iri_eng": ["_:d2ca0ddb17029453b6da9a670660497a"], "label_kw": ["Hypoplasia of the capital femoral epiphysis"], "iri_kw": "http://purl.obolibrary.org/obo/HP_0003090", "equivalent_iri": ["_:d2ca0ddb17029453b6da9a670660497a"], "_version_": 1580845591319019521, "category_eng": ["Phenotype"], "iri_std": "http://purl.obolibrary.org/obo/HP_0003090", "id": "HP:0003090", "definition": ["Underdevelopment of the proximal epiphysis of the femur."], "synonym_kw": ["Small femoral capital epiphyses", "Small innermost thighbone end part", "Small proximal femoral epiphyses", "Underdevelopment of the innermost thighbone end part", "Small capital femoral epiphyses"], "synonym_std": ["Small femoral capital epiphyses", "Small innermost thighbone end part", "Small proximal femoral epiphyses", "Underdevelopment of the innermost thighbone end part", "Small capital femoral epiphyses"], "label": ["Hypoplasia of the capital femoral epiphysis"], "definition_eng": ["Underdevelopment of the proximal epiphysis of the femur."], "equivalent_curie_std": ["_:d2ca0ddb17029453b6da9a670660497a"], "category": ["Phenotype"]}, {"synonym": ["Abnormality of the proximal femoral epiphysis", "Abnormality of the end part of the innermost thighbone"], "equivalent_curie_eng": ["_:2e795298b8e0c60c8db29d1f82a5600c"], "leaf": false, "category_std": ["Phenotype"], "id_std": "HP:0010574", "iri": "http://purl.obolibrary.org/obo/HP_0010574", "equivalent_iri_kw": ["_:2e795298b8e0c60c8db29d1f82a5600c"], "label_eng": ["Abnormality of the epiphysis of the femoral head"], "definition_std": ["Any abnormality of the proximal epiphysis of the femur."], "id_eng": "HP:0010574", "definition_kw": ["Any abnormality of the proximal epiphysis of the femur."], "equivalent_iri_std": ["_:2e795298b8e0c60c8db29d1f82a5600c"], "category_kw": ["Phenotype"], "iri_eng": "http://purl.obolibrary.org/obo/HP_0010574", "label_std": ["Abnormality of the epiphysis of the femoral head"], "equivalent_curie": ["_:2e795298b8e0c60c8db29d1f82a5600c"], "equivalent_curie_kw": ["_:2e795298b8e0c60c8db29d1f82a5600c"], "synonym_eng": ["Abnormality of the proximal femoral epiphysis", "Abnormality of the end part of the innermost thighbone"], "score": 19.631952, "id_kw": "HP:0010574", "equivalent_iri_eng": ["_:2e795298b8e0c60c8db29d1f82a5600c"], "label_kw": ["Abnormality of the epiphysis of the femoral head"], "iri_kw": "http://purl.obolibrary.org/obo/HP_0010574", "equivalent_iri": ["_:2e795298b8e0c60c8db29d1f82a5600c"], "_version_": 1580845592266932226, "category_eng": ["Phenotype"], "iri_std": "http://purl.obolibrary.org/obo/HP_0010574", "id": "HP:0010574", "definition": ["Any abnormality of the proximal epiphysis of the femur."], "synonym_kw": ["Abnormality of the proximal femoral epiphysis", "Abnormality of the end part of the innermost thighbone"], "synonym_std": ["Abnormality of the proximal femoral epiphysis", "Abnormality of the end part of the innermost thighbone"], "label": ["Abnormality of the epiphysis of the femoral head"], "definition_eng": ["Any abnormality of the proximal epiphysis of the femur."], "equivalent_curie_std": ["_:2e795298b8e0c60c8db29d1f82a5600c"], "category": ["Phenotype"]}, {"synonym": ["Enlargement of the outermost thighbone end part", "Large distal femoral epiphyses"], "equivalent_curie_eng": ["_:ff4026ad8d2d7cc50370b9b30d1eb248"], "leaf": true, "category_std": ["Phenotype"], "id_std": "HP:0006438", "iri": "http://purl.obolibrary.org/obo/HP_0006438", "equivalent_iri_kw": ["_:ff4026ad8d2d7cc50370b9b30d1eb248"], "label_eng": ["Enlargement of the distal femoral epiphysis"], "definition_std": ["An abnormal enlargement of the distal epiphysis of the femur."], "id_eng": "HP:0006438", "definition_kw": ["An abnormal enlargement of the distal epiphysis of the femur."], "equivalent_iri_std": ["_:ff4026ad8d2d7cc50370b9b30d1eb248"], "category_kw": ["Phenotype"], "iri_eng": "http://purl.obolibrary.org/obo/HP_0006438", "label_std": ["Enlargement of the distal femoral epiphysis"], "equivalent_curie": ["_:ff4026ad8d2d7cc50370b9b30d1eb248"], "equivalent_curie_kw": ["_:ff4026ad8d2d7cc50370b9b30d1eb248"], "synonym_eng": ["Enlargement of the outermost thighbone end part", "Large distal femoral epiphyses"], "score": 19.631952, "id_kw": "HP:0006438", "equivalent_iri_eng": ["_:ff4026ad8d2d7cc50370b9b30d1eb248"], "label_kw": ["Enlargement of the distal femoral epiphysis"], "iri_kw": "http://purl.obolibrary.org/obo/HP_0006438", "equivalent_iri": ["_:ff4026ad8d2d7cc50370b9b30d1eb248"], "_version_": 1580845592272175106, "category_eng": ["Phenotype"], "iri_std": "http://purl.obolibrary.org/obo/HP_0006438", "id": "HP:0006438", "definition": ["An abnormal enlargement of the distal epiphysis of the femur."], "synonym_kw": ["Enlargement of the outermost thighbone end part", "Large distal femoral epiphyses"], "synonym_std": ["Enlargement of the outermost thighbone end part", "Large distal femoral epiphyses"], "label": ["Enlargement of the distal femoral epiphysis"], "definition_eng": ["An abnormal enlargement of the distal epiphysis of the femur."], "equivalent_curie_std": ["_:ff4026ad8d2d7cc50370b9b30d1eb248"], "category": ["Phenotype"]}, {"synonym": ["Flat end part of outermost thighbone", "Flattened distal femoral epiphyses"], "equivalent_curie_eng": ["_:a79ce51c07ccec492a4dfed33e1c5bb0"], "leaf": true, "category_std": ["Phenotype"], "id_std": "HP:0006398", "iri": "http://purl.obolibrary.org/obo/HP_0006398", "equivalent_iri_kw": ["_:a79ce51c07ccec492a4dfed33e1c5bb0"], "label_eng": ["Flat distal femoral epiphysis"], "definition_std": ["An abnormal flattening of the distal epiphysis of femur."], "id_eng": "HP:0006398", "definition_kw": ["An abnormal flattening of the distal epiphysis of femur."], "equivalent_iri_std": ["_:a79ce51c07ccec492a4dfed33e1c5bb0"], "category_kw": ["Phenotype"], "iri_eng": "http://purl.obolibrary.org/obo/HP_0006398", "label_std": ["Flat distal femoral epiphysis"], "equivalent_curie": ["_:a79ce51c07ccec492a4dfed33e1c5bb0"], "equivalent_curie_kw": ["_:a79ce51c07ccec492a4dfed33e1c5bb0"], "synonym_eng": ["Flat end part of outermost thighbone", "Flattened distal femoral epiphyses"], "score": 19.631952, "id_kw": "HP:0006398", "equivalent_iri_eng": ["_:a79ce51c07ccec492a4dfed33e1c5bb0"], "label_kw": ["Flat distal femoral epiphysis"], "iri_kw": "http://purl.obolibrary.org/obo/HP_0006398", "equivalent_iri": ["_:a79ce51c07ccec492a4dfed33e1c5bb0"], "_version_": 1580845592334041091, "category_eng": ["Phenotype"], "iri_std": "http://purl.obolibrary.org/obo/HP_0006398", "id": "HP:0006398", "definition": ["An abnormal flattening of the distal epiphysis of femur."], "synonym_kw": ["Flat end part of outermost thighbone", "Flattened distal femoral epiphyses"], "synonym_std": ["Flat end part of outermost thighbone", "Flattened distal femoral epiphyses"], "label": ["Flat distal femoral epiphysis"], "definition_eng": ["An abnormal flattening of the distal epiphysis of femur."], "equivalent_curie_std": ["_:a79ce51c07ccec492a4dfed33e1c5bb0"], "category": ["Phenotype"]}, {"synonym": ["Small end part of outermost thighbone"], "leaf": true, "category_std": ["Phenotype"], "id_std": "HP:0012283", "iri": "http://purl.obolibrary.org/obo/HP_0012283", "label_eng": ["Small distal femoral epiphysis"], "definition_std": ["Reduced size of the Distal epiphysis of femur."], "id_eng": "HP:0012283", "definition_kw": ["Reduced size of the Distal epiphysis of femur."], "category_kw": ["Phenotype"], "iri_eng": "http://purl.obolibrary.org/obo/HP_0012283", "label_std": ["Small distal femoral epiphysis"], "synonym_eng": ["Small end part of outermost thighbone"], "score": 19.631952, "id_kw": "HP:0012283", "label_kw": ["Small distal femoral epiphysis"], "iri_kw": "http://purl.obolibrary.org/obo/HP_0012283", "_version_": 1580845592537464833, "category_eng": ["Phenotype"], "iri_std": "http://purl.obolibrary.org/obo/HP_0012283", "id": "HP:0012283", "definition": ["Reduced size of the Distal epiphysis of femur."], "synonym_kw": ["Small end part of outermost thighbone"], "synonym_std": ["Small end part of outermost thighbone"], "label": ["Small distal femoral epiphysis"], "definition_eng": ["Reduced size of the Distal epiphysis of femur."], "category": ["Phenotype"]}, {"synonym": ["Flat end part of innermost thighbone", "Flat femoral capital epiphyses", "Flat capital femoral epiphyses", "Flat proximal femoral epiphyses", "Flattened proximal femoral epiphyses"], "equivalent_curie_eng": ["_:c5ab290b9613448449c2f5414fa69007"], "leaf": true, "category_std": ["Phenotype"], "id_std": "HP:0003370", "iri": "http://purl.obolibrary.org/obo/HP_0003370", "equivalent_iri_kw": ["_:c5ab290b9613448449c2f5414fa69007"], "label_eng": ["Flat capital femoral epiphysis"], "definition_std": ["An abnormal flattening of the proximal epiphysis of the femur."], "id_eng": "HP:0003370", "definition_kw": ["An abnormal flattening of the proximal epiphysis of the femur."], "equivalent_iri_std": ["_:c5ab290b9613448449c2f5414fa69007"], "category_kw": ["Phenotype"], "iri_eng": "http://purl.obolibrary.org/obo/HP_0003370", "label_std": ["Flat capital femoral epiphysis"], "equivalent_curie": ["_:c5ab290b9613448449c2f5414fa69007"], "equivalent_curie_kw": ["_:c5ab290b9613448449c2f5414fa69007"], "synonym_eng": ["Flat end part of innermost thighbone", "Flat femoral capital epiphyses", "Flat capital femoral epiphyses", "Flat proximal femoral epiphyses", "Flattened proximal femoral epiphyses"], "score": 19.631952, "id_kw": "HP:0003370", "equivalent_iri_eng": ["_:c5ab290b9613448449c2f5414fa69007"], "label_kw": ["Flat capital femoral epiphysis"], "iri_kw": "http://purl.obolibrary.org/obo/HP_0003370", "equivalent_iri": ["_:c5ab290b9613448449c2f5414fa69007"], "_version_": 1580845592763957250, "category_eng": ["Phenotype"], "iri_std": "http://purl.obolibrary.org/obo/HP_0003370", "id": "HP:0003370", "definition": ["An abnormal flattening of the proximal epiphysis of the femur."], "synonym_kw": ["Flat end part of innermost thighbone", "Flat femoral capital epiphyses", "Flat capital femoral epiphyses", "Flat proximal femoral epiphyses", "Flattened proximal femoral epiphyses"], "synonym_std": ["Flat end part of innermost thighbone", "Flat femoral capital epiphyses", "Flat capital femoral epiphyses", "Flat proximal femoral epiphyses", "Flattened proximal femoral epiphyses"], "label": ["Flat capital femoral epiphysis"], "definition_eng": ["An abnormal flattening of the proximal epiphysis of the femur."], "equivalent_curie_std": ["_:c5ab290b9613448449c2f5414fa69007"], "category": ["Phenotype"]}, {"leaf": true, "category_std": ["Phenotype"], "id_std": "HP:0005090", "iri": "http://purl.obolibrary.org/obo/HP_0005090", "label_eng": ["Lateral femoral bowing"], "definition_std": ["A lateral bending or abnormal curvature of the femur."], "id_eng": "HP:0005090", "definition_kw": ["A lateral bending or abnormal curvature of the femur."], "category_kw": ["Phenotype"], "iri_eng": "http://purl.obolibrary.org/obo/HP_0005090", "label_std": ["Lateral femoral bowing"], "score": 19.631952, "id_kw": "HP:0005090", "label_kw": ["Lateral femoral bowing"], "iri_kw": "http://purl.obolibrary.org/obo/HP_0005090", "_version_": 1580845592921243652, "category_eng": ["Phenotype"], "iri_std": "http://purl.obolibrary.org/obo/HP_0005090", "id": "HP:0005090", "definition": ["A lateral bending or abnormal curvature of the femur."], "label": ["Lateral femoral bowing"], "definition_eng": ["A lateral bending or abnormal curvature of the femur."], "category": ["Phenotype"]}, {"synonym": ["Enlarged end part of innermost thighbone", "Enlarged capital femoral epiphyses"], "equivalent_curie_eng": ["_:42d91fe4c8fe588e6bb4c81df5d88cce"], "leaf": false, "category_std": ["Phenotype"], "id_std": "HP:0003371", "iri": "http://purl.obolibrary.org/obo/HP_0003371", "equivalent_iri_kw": ["_:42d91fe4c8fe588e6bb4c81df5d88cce"], "label_eng": ["Enlargement of the proximal femoral epiphysis"], "definition_std": ["An abnormal enlargement of the proximal epiphysis of the femur."], "id_eng": "HP:0003371", "definition_kw": ["An abnormal enlargement of the proximal epiphysis of the femur."], "equivalent_iri_std": ["_:42d91fe4c8fe588e6bb4c81df5d88cce"], "category_kw": ["Phenotype"], "iri_eng": "http://purl.obolibrary.org/obo/HP_0003371", "label_std": ["Enlargement of the proximal femoral epiphysis"], "equivalent_curie": ["_:42d91fe4c8fe588e6bb4c81df5d88cce"], "equivalent_curie_kw": ["_:42d91fe4c8fe588e6bb4c81df5d88cce"], "synonym_eng": ["Enlarged end part of innermost thighbone", "Enlarged capital femoral epiphyses"], "score": 19.631952, "id_kw": "HP:0003371", "equivalent_iri_eng": ["_:42d91fe4c8fe588e6bb4c81df5d88cce"], "label_kw": ["Enlargement of the proximal femoral epiphysis"], "iri_kw": "http://purl.obolibrary.org/obo/HP_0003371", "equivalent_iri": ["_:42d91fe4c8fe588e6bb4c81df5d88cce"], "_version_": 1580845593313411074, "category_eng": ["Phenotype"], "iri_std": "http://purl.obolibrary.org/obo/HP_0003371", "id": "HP:0003371", "definition": ["An abnormal enlargement of the proximal epiphysis of the femur."], "synonym_kw": ["Enlarged end part of innermost thighbone", "Enlarged capital femoral epiphyses"], "synonym_std": ["Enlarged end part of innermost thighbone", "Enlarged capital femoral epiphyses"], "label": ["Enlargement of the proximal femoral epiphysis"], "definition_eng": ["An abnormal enlargement of the proximal epiphysis of the femur."], "equivalent_curie_std": ["_:42d91fe4c8fe588e6bb4c81df5d88cce"], "category": ["Phenotype"]}, {"synonym": ["Absent/underdeveloped end part of innermost thighbone", "Absent/small end part of innermost thighbone"], "equivalent_curie_eng": ["_:906479aa0170f3cebe101c7bc14b5162"], "leaf": false, "category_std": ["Phenotype"], "id_std": "HP:0005003", "iri": "http://purl.obolibrary.org/obo/HP_0005003", "equivalent_iri_kw": ["_:906479aa0170f3cebe101c7bc14b5162"], "label_eng": ["Aplasia/Hypoplasia of the capital femoral epiphysis"], "definition_std": ["Absence or underdevelopment of the proximal epiphysis of the femur."], "id_eng": "HP:0005003", "definition_kw": ["Absence or underdevelopment of the proximal epiphysis of the femur."], "equivalent_iri_std": ["_:906479aa0170f3cebe101c7bc14b5162"], "category_kw": ["Phenotype"], "iri_eng": "http://purl.obolibrary.org/obo/HP_0005003", "label_std": ["Aplasia/Hypoplasia of the capital femoral epiphysis"], "equivalent_curie": ["_:906479aa0170f3cebe101c7bc14b5162"], "equivalent_curie_kw": ["_:906479aa0170f3cebe101c7bc14b5162"], "synonym_eng": ["Absent/underdeveloped end part of innermost thighbone", "Absent/small end part of innermost thighbone"], "score": 19.631952, "id_kw": "HP:0005003", "equivalent_iri_eng": ["_:906479aa0170f3cebe101c7bc14b5162"], "label_kw": ["Aplasia/Hypoplasia of the capital femoral epiphysis"], "iri_kw": "http://purl.obolibrary.org/obo/HP_0005003", "equivalent_iri": ["_:906479aa0170f3cebe101c7bc14b5162"], "_version_": 1580845593348014082, "category_eng": ["Phenotype"], "iri_std": "http://purl.obolibrary.org/obo/HP_0005003", "id": "HP:0005003", "definition": ["Absence or underdevelopment of the proximal epiphysis of the femur."], "synonym_kw": ["Absent/underdeveloped end part of innermost thighbone", "Absent/small end part of innermost thighbone"], "synonym_std": ["Absent/underdeveloped end part of innermost thighbone", "Absent/small end part of innermost thighbone"], "label": ["Aplasia/Hypoplasia of the capital femoral epiphysis"], "definition_eng": ["Absence or underdevelopment of the proximal epiphysis of the femur."], "equivalent_curie_std": ["_:906479aa0170f3cebe101c7bc14b5162"], "category": ["Phenotype"]}, {"synonym": ["Abnormality of the end part of the outermost thighbone"], "equivalent_curie_eng": ["_:643c23c8da59c2e1371df255a0379aca"], "leaf": false, "category_std": ["Phenotype"], "id_std": "HP:0010590", "iri": "http://purl.obolibrary.org/obo/HP_0010590", "equivalent_iri_kw": ["_:643c23c8da59c2e1371df255a0379aca"], "label_eng": ["Abnormality of the distal femoral epiphysis"], "definition_std": ["Any abnormality of the distal epiphysis of the femur."], "id_eng": "HP:0010590", "definition_kw": ["Any abnormality of the distal epiphysis of the femur."], "equivalent_iri_std": ["_:643c23c8da59c2e1371df255a0379aca"], "category_kw": ["Phenotype"], "iri_eng": "http://purl.obolibrary.org/obo/HP_0010590", "label_std": ["Abnormality of the distal femoral epiphysis"], "equivalent_curie": ["_:643c23c8da59c2e1371df255a0379aca"], "equivalent_curie_kw": ["_:643c23c8da59c2e1371df255a0379aca"], "synonym_eng": ["Abnormality of the end part of the outermost thighbone"], "score": 19.631952, "id_kw": "HP:0010590", "equivalent_iri_eng": ["_:643c23c8da59c2e1371df255a0379aca"], "label_kw": ["Abnormality of the distal femoral epiphysis"], "iri_kw": "http://purl.obolibrary.org/obo/HP_0010590", "equivalent_iri": ["_:643c23c8da59c2e1371df255a0379aca"], "_version_": 1580845613174489091, "category_eng": ["Phenotype"], "iri_std": "http://purl.obolibrary.org/obo/HP_0010590", "id": "HP:0010590", "definition": ["Any abnormality of the distal epiphysis of the femur."], "synonym_kw": ["Abnormality of the end part of the outermost thighbone"], "synonym_std": ["Abnormality of the end part of the outermost thighbone"], "label": ["Abnormality of the distal femoral epiphysis"], "definition_eng": ["Any abnormality of the distal epiphysis of the femur."], "equivalent_curie_std": ["_:643c23c8da59c2e1371df255a0379aca"], "category": ["Phenotype"]}, {"synonym": ["Delayed ossification of the proximal femoral epiphysis", "Delayed ossification proximal femoral epiphyses"], "equivalent_curie_eng": ["_:4799d7ce6b96be3f76500858944d2ae1"], "leaf": false, "category_std": ["Phenotype"], "id_std": "HP:0008828", "iri": "http://purl.obolibrary.org/obo/HP_0008828", "equivalent_iri_kw": ["_:4799d7ce6b96be3f76500858944d2ae1"], "label_eng": ["Delayed proximal femoral epiphyseal ossification"], "definition_std": ["Developmental delay of ossification of the proximal epiphysis of the femur."], "id_eng": "HP:0008828", "definition_kw": ["Developmental delay of ossification of the proximal epiphysis of the femur."], "equivalent_iri_std": ["_:4799d7ce6b96be3f76500858944d2ae1"], "category_kw": ["Phenotype"], "iri_eng": "http://purl.obolibrary.org/obo/HP_0008828", "label_std": ["Delayed proximal femoral epiphyseal ossification"], "equivalent_curie": ["_:4799d7ce6b96be3f76500858944d2ae1"], "equivalent_curie_kw": ["_:4799d7ce6b96be3f76500858944d2ae1"], "synonym_eng": ["Delayed ossification of the proximal femoral epiphysis", "Delayed ossification proximal femoral epiphyses"], "score": 19.242117, "id_kw": "HP:0008828", "equivalent_iri_eng": ["_:4799d7ce6b96be3f76500858944d2ae1"], "label_kw": ["Delayed proximal femoral epiphyseal ossification"], "iri_kw": "http://purl.obolibrary.org/obo/HP_0008828", "equivalent_iri": ["_:4799d7ce6b96be3f76500858944d2ae1"], "_version_": 1580845591156490241, "category_eng": ["Phenotype"], "iri_std": "http://purl.obolibrary.org/obo/HP_0008828", "id": "HP:0008828", "definition": ["Developmental delay of ossification of the proximal epiphysis of the femur."], "synonym_kw": ["Delayed ossification of the proximal femoral epiphysis", "Delayed ossification proximal femoral epiphyses"], "synonym_std": ["Delayed ossification of the proximal femoral epiphysis", "Delayed ossification proximal femoral epiphyses"], "label": ["Delayed proximal femoral epiphyseal ossification"], "definition_eng": ["Developmental delay of ossification of the proximal epiphysis of the femur."], "equivalent_curie_std": ["_:4799d7ce6b96be3f76500858944d2ae1"], "category": ["Phenotype"]}, {"equivalent_curie_eng": ["_:b38504001289e6e0d1cc62ca86661652"], "leaf": true, "category_std": ["Phenotype"], "id_std": "HP:0008797", "iri": "http://purl.obolibrary.org/obo/HP_0008797", "equivalent_iri_kw": ["_:b38504001289e6e0d1cc62ca86661652"], "label_eng": ["Early ossification of capital femoral epiphyses"], "definition_std": ["Developmental acceleration of ossification of the proximal epiphysis of the femur."], "id_eng": "HP:0008797", "definition_kw": ["Developmental acceleration of ossification of the proximal epiphysis of the femur."], "equivalent_iri_std": ["_:b38504001289e6e0d1cc62ca86661652"], "category_kw": ["Phenotype"], "iri_eng": "http://purl.obolibrary.org/obo/HP_0008797", "label_std": ["Early ossification of capital femoral epiphyses"], "equivalent_curie": ["_:b38504001289e6e0d1cc62ca86661652"], "equivalent_curie_kw": ["_:b38504001289e6e0d1cc62ca86661652"], "score": 19.242117, "id_kw": "HP:0008797", "equivalent_iri_eng": ["_:b38504001289e6e0d1cc62ca86661652"], "label_kw": ["Early ossification of capital femoral epiphyses"], "iri_kw": "http://purl.obolibrary.org/obo/HP_0008797", "equivalent_iri": ["_:b38504001289e6e0d1cc62ca86661652"], "_version_": 1580845591205773313, "category_eng": ["Phenotype"], "iri_std": "http://purl.obolibrary.org/obo/HP_0008797", "id": "HP:0008797", "definition": ["Developmental acceleration of ossification of the proximal epiphysis of the femur."], "label": ["Early ossification of capital femoral epiphyses"], "definition_eng": ["Developmental acceleration of ossification of the proximal epiphysis of the femur."], "equivalent_curie_std": ["_:b38504001289e6e0d1cc62ca86661652"], "category": ["Phenotype"]}, {"synonym": ["Cone-shaped end part of innermost thighbone"], "equivalent_curie_eng": ["_:c26160a1f6412068282579bc0c035be1"], "leaf": true, "category_std": ["Phenotype"], "id_std": "HP:0008789", "iri": "http://purl.obolibrary.org/obo/HP_0008789", "equivalent_iri_kw": ["_:c26160a1f6412068282579bc0c035be1"], "label_eng": ["Cone-shaped capital femoral epiphysis"], "definition_std": ["A cone-shaped deformity of the proximal epiphysis of the femur."], "id_eng": "HP:0008789", "definition_kw": ["A cone-shaped deformity of the proximal epiphysis of the femur."], "equivalent_iri_std": ["_:c26160a1f6412068282579bc0c035be1"], "category_kw": ["Phenotype"], "iri_eng": "http://purl.obolibrary.org/obo/HP_0008789", "label_std": ["Cone-shaped capital femoral epiphysis"], "equivalent_curie": ["_:c26160a1f6412068282579bc0c035be1"], "equivalent_curie_kw": ["_:c26160a1f6412068282579bc0c035be1"], "synonym_eng": ["Cone-shaped end part of innermost thighbone"], "score": 19.242117, "id_kw": "HP:0008789", "equivalent_iri_eng": ["_:c26160a1f6412068282579bc0c035be1"], "label_kw": ["Cone-shaped capital femoral epiphysis"], "iri_kw": "http://purl.obolibrary.org/obo/HP_0008789", "equivalent_iri": ["_:c26160a1f6412068282579bc0c035be1"], "_version_": 1580845591207870465, "category_eng": ["Phenotype"], "iri_std": "http://purl.obolibrary.org/obo/HP_0008789", "id": "HP:0008789", "definition": ["A cone-shaped deformity of the proximal epiphysis of the femur."], "synonym_kw": ["Cone-shaped end part of innermost thighbone"], "synonym_std": ["Cone-shaped end part of innermost thighbone"], "label": ["Cone-shaped capital femoral epiphysis"], "definition_eng": ["A cone-shaped deformity of the proximal epiphysis of the femur."], "equivalent_curie_std": ["_:c26160a1f6412068282579bc0c035be1"], "category": ["Phenotype"]}, {"synonym": ["Wide end part of innermost thighbone"], "equivalent_curie_eng": ["_:aa23eadeacf3ac82e78930b08e653d50"], "leaf": true, "category_std": ["Phenotype"], "id_std": "HP:0008784", "iri": "http://purl.obolibrary.org/obo/HP_0008784", "equivalent_iri_kw": ["_:aa23eadeacf3ac82e78930b08e653d50"], "label_eng": ["Wide capital femoral epiphyses"], "definition_std": ["Abnormally wide morphology of the proximal epiphysis of the femur."], "id_eng": "HP:0008784", "definition_kw": ["Abnormally wide morphology of the proximal epiphysis of the femur."], "equivalent_iri_std": ["_:aa23eadeacf3ac82e78930b08e653d50"], "category_kw": ["Phenotype"], "iri_eng": "http://purl.obolibrary.org/obo/HP_0008784", "label_std": ["Wide capital femoral epiphyses"], "equivalent_curie": ["_:aa23eadeacf3ac82e78930b08e653d50"], "equivalent_curie_kw": ["_:aa23eadeacf3ac82e78930b08e653d50"], "synonym_eng": ["Wide end part of innermost thighbone"], "score": 19.242117, "id_kw": "HP:0008784", "equivalent_iri_eng": ["_:aa23eadeacf3ac82e78930b08e653d50"], "label_kw": ["Wide capital femoral epiphyses"], "iri_kw": "http://purl.obolibrary.org/obo/HP_0008784", "equivalent_iri": ["_:aa23eadeacf3ac82e78930b08e653d50"], "_version_": 1580845591211016192, "category_eng": ["Phenotype"], "iri_std": "http://purl.obolibrary.org/obo/HP_0008784", "id": "HP:0008784", "definition": ["Abnormally wide morphology of the proximal epiphysis of the femur."], "synonym_kw": ["Wide end part of innermost thighbone"], "synonym_std": ["Wide end part of innermost thighbone"], "label": ["Wide capital femoral epiphyses"], "definition_eng": ["Abnormally wide morphology of the proximal epiphysis of the femur."], "equivalent_curie_std": ["_:aa23eadeacf3ac82e78930b08e653d50"], "category": ["Phenotype"]}, {"synonym": ["Wide metaphysis of innermost thighbone"], "equivalent_curie_eng": ["_:99e2098665fa866afc0fdb28d95ec62e"], "leaf": true, "category_std": ["Phenotype"], "id_std": "HP:0008783", "iri": "http://purl.obolibrary.org/obo/HP_0008783", "equivalent_iri_kw": ["_:99e2098665fa866afc0fdb28d95ec62e"], "label_eng": ["Wide proximal femoral metaphysis"], "definition_std": ["Increased width of the proximal part of the shaft (metaphysis) of the femur."], "id_eng": "HP:0008783", "definition_kw": ["Increased width of the proximal part of the shaft (metaphysis) of the femur."], "equivalent_iri_std": ["_:99e2098665fa866afc0fdb28d95ec62e"], "category_kw": ["Phenotype"], "iri_eng": "http://purl.obolibrary.org/obo/HP_0008783", "label_std": ["Wide proximal femoral metaphysis"], "equivalent_curie": ["_:99e2098665fa866afc0fdb28d95ec62e"], "equivalent_curie_kw": ["_:99e2098665fa866afc0fdb28d95ec62e"], "synonym_eng": ["Wide metaphysis of innermost thighbone"], "score": 19.242117, "id_kw": "HP:0008783", "equivalent_iri_eng": ["_:99e2098665fa866afc0fdb28d95ec62e"], "label_kw": ["Wide proximal femoral metaphysis"], "iri_kw": "http://purl.obolibrary.org/obo/HP_0008783", "equivalent_iri": ["_:99e2098665fa866afc0fdb28d95ec62e"], "_version_": 1580845591211016193, "category_eng": ["Phenotype"], "iri_std": "http://purl.obolibrary.org/obo/HP_0008783", "id": "HP:0008783", "definition": ["Increased width of the proximal part of the shaft (metaphysis) of the femur."], "synonym_kw": ["Wide metaphysis of innermost thighbone"], "synonym_std": ["Wide metaphysis of innermost thighbone"], "label": ["Wide proximal femoral metaphysis"], "definition_eng": ["Increased width of the proximal part of the shaft (metaphysis) of the femur."], "equivalent_curie_std": ["_:99e2098665fa866afc0fdb28d95ec62e"], "category": ["Phenotype"]}, {"synonym": ["Limited hip abduction"], "leaf": true, "category_std": ["Phenotype"], "id_std": "HP:0003184", "iri": "http://purl.obolibrary.org/obo/HP_0003184", "label_eng": ["Decreased hip abduction"], "definition_std": ["Reduced ability to move the femur outward to the side."], "id_eng": "HP:0003184", "definition_kw": ["Reduced ability to move the femur outward to the side."], "category_kw": ["Phenotype"], "iri_eng": "http://purl.obolibrary.org/obo/HP_0003184", "label_std": ["Decreased hip abduction"], "synonym_eng": ["Limited hip abduction"], "score": 19.242117, "id_kw": "HP:0003184", "label_kw": ["Decreased hip abduction"], "iri_kw": "http://purl.obolibrary.org/obo/HP_0003184", "_version_": 1580845591242473473, "category_eng": ["Phenotype"], "iri_std": "http://purl.obolibrary.org/obo/HP_0003184", "id": "HP:0003184", "definition": ["Reduced ability to move the femur outward to the side."], "synonym_kw": ["Limited hip abduction"], "synonym_std": ["Limited hip abduction"], "label": ["Decreased hip abduction"], "definition_eng": ["Reduced ability to move the femur outward to the side."], "category": ["Phenotype"]}, {"equivalent_curie_eng": ["_:6d509055a7bbd06dac8c384496e5333c"], "leaf": true, "category_std": ["Phenotype"], "id_std": "HP:0012515", "iri": "http://purl.obolibrary.org/obo/HP_0012515", "equivalent_iri_kw": ["_:6d509055a7bbd06dac8c384496e5333c"], "label_eng": ["Hip flexor weakness"], "definition_std": ["Reduced ability to flex the femur, that is, to pull the knee upward."], "id_eng": "HP:0012515", "definition_kw": ["Reduced ability to flex the femur, that is, to pull the knee upward."], "equivalent_iri_std": ["_:6d509055a7bbd06dac8c384496e5333c"], "category_kw": ["Phenotype"], "iri_eng": "http://purl.obolibrary.org/obo/HP_0012515", "label_std": ["Hip flexor weakness"], "equivalent_curie": ["_:6d509055a7bbd06dac8c384496e5333c"], "equivalent_curie_kw": ["_:6d509055a7bbd06dac8c384496e5333c"], "score": 19.242117, "id_kw": "HP:0012515", "equivalent_iri_eng": ["_:6d509055a7bbd06dac8c384496e5333c"], "label_kw": ["Hip flexor weakness"], "iri_kw": "http://purl.obolibrary.org/obo/HP_0012515", "equivalent_iri": ["_:6d509055a7bbd06dac8c384496e5333c"], "_version_": 1580845591507763201, "category_eng": ["Phenotype"], "iri_std": "http://purl.obolibrary.org/obo/HP_0012515", "id": "HP:0012515", "definition": ["Reduced ability to flex the femur, that is, to pull the knee upward."], "label": ["Hip flexor weakness"], "definition_eng": ["Reduced ability to flex the femur, that is, to pull the knee upward."], "equivalent_curie_std": ["_:6d509055a7bbd06dac8c384496e5333c"], "category": ["Phenotype"]}, {"synonym": ["Abnormal wide portion of innermost thighbone"], "equivalent_curie_eng": ["_:727b15e88a369fb86704e87f3602c19c"], "leaf": false, "category_std": ["Phenotype"], "id_std": "HP:0006431", "iri": "http://purl.obolibrary.org/obo/HP_0006431", "equivalent_iri_kw": ["_:727b15e88a369fb86704e87f3602c19c"], "label_eng": ["Proximal femoral metaphyseal abnormality"], "definition_std": ["An anomaly of the metaphysis of the proximal femur (close to the hip)."], "id_eng": "HP:0006431", "definition_kw": ["An anomaly of the metaphysis of the proximal femur (close to the hip)."], "equivalent_iri_std": ["_:727b15e88a369fb86704e87f3602c19c"], "category_kw": ["Phenotype"], "iri_eng": "http://purl.obolibrary.org/obo/HP_0006431", "label_std": ["Proximal femoral metaphyseal abnormality"], "equivalent_curie": ["_:727b15e88a369fb86704e87f3602c19c"], "equivalent_curie_kw": ["_:727b15e88a369fb86704e87f3602c19c"], "synonym_eng": ["Abnormal wide portion of innermost thighbone"], "score": 19.242117, "id_kw": "HP:0006431", "equivalent_iri_eng": ["_:727b15e88a369fb86704e87f3602c19c"], "label_kw": ["Proximal femoral metaphyseal abnormality"], "iri_kw": "http://purl.obolibrary.org/obo/HP_0006431", "equivalent_iri": ["_:727b15e88a369fb86704e87f3602c19c"], "_version_": 1580845592273223682, "category_eng": ["Phenotype"], "iri_std": "http://purl.obolibrary.org/obo/HP_0006431", "id": "HP:0006431", "definition": ["An anomaly of the metaphysis of the proximal femur (close to the hip)."], "synonym_kw": ["Abnormal wide portion of innermost thighbone"], "synonym_std": ["Abnormal wide portion of innermost thighbone"], "label": ["Proximal femoral metaphyseal abnormality"], "definition_eng": ["An anomaly of the metaphysis of the proximal femur (close to the hip)."], "equivalent_curie_std": ["_:727b15e88a369fb86704e87f3602c19c"], "category": ["Phenotype"]}, {"leaf": true, "category_std": ["Phenotype"], "id_std": "HP:0005096", "iri": "http://purl.obolibrary.org/obo/HP_0005096", "label_eng": ["Distal femoral bowing"], "definition_std": ["A bending or abnormal curvature of the distal portion of the femur."], "id_eng": "HP:0005096", "definition_kw": ["A bending or abnormal curvature of the distal portion of the femur."], "category_kw": ["Phenotype"], "iri_eng": "http://purl.obolibrary.org/obo/HP_0005096", "label_std": ["Distal femoral bowing"], "score": 19.242117, "id_kw": "HP:0005096", "label_kw": ["Distal femoral bowing"], "iri_kw": "http://purl.obolibrary.org/obo/HP_0005096", "_version_": 1580845593168707584, "category_eng": ["Phenotype"], "iri_std": "http://purl.obolibrary.org/obo/HP_0005096", "id": "HP:0005096", "definition": ["A bending or abnormal curvature of the distal portion of the femur."], "label": ["Distal femoral bowing"], "definition_eng": ["A bending or abnormal curvature of the distal portion of the femur."], "category": ["Phenotype"]}, {"synonym": ["Irregular proximal femoral metaphyses"], "equivalent_curie_eng": ["_:59e0e4823b2f7c9c45deb6d53d392ac5"], "leaf": true, "category_std": ["Phenotype"], "id_std": "HP:0003411", "iri": "http://purl.obolibrary.org/obo/HP_0003411", "equivalent_iri_kw": ["_:59e0e4823b2f7c9c45deb6d53d392ac5"], "label_eng": ["Proximal femoral metaphyseal irregularity"], "definition_std": ["Irregularity of the normally smooth surface of the proximal metaphysis of the femur."], "id_eng": "HP:0003411", "definition_kw": ["Irregularity of the normally smooth surface of the proximal metaphysis of the femur."], "equivalent_iri_std": ["_:59e0e4823b2f7c9c45deb6d53d392ac5"], "category_kw": ["Phenotype"], "iri_eng": "http://purl.obolibrary.org/obo/HP_0003411", "label_std": ["Proximal femoral metaphyseal irregularity"], "equivalent_curie": ["_:59e0e4823b2f7c9c45deb6d53d392ac5"], "equivalent_curie_kw": ["_:59e0e4823b2f7c9c45deb6d53d392ac5"], "synonym_eng": ["Irregular proximal femoral metaphyses"], "score": 19.242117, "id_kw": "HP:0003411", "equivalent_iri_eng": ["_:59e0e4823b2f7c9c45deb6d53d392ac5"], "label_kw": ["Proximal femoral metaphyseal irregularity"], "iri_kw": "http://purl.obolibrary.org/obo/HP_0003411", "equivalent_iri": ["_:59e0e4823b2f7c9c45deb6d53d392ac5"], "_version_": 1580845593242107904, "category_eng": ["Phenotype"], "iri_std": "http://purl.obolibrary.org/obo/HP_0003411", "id": "HP:0003411", "definition": ["Irregularity of the normally smooth surface of the proximal metaphysis of the femur."], "synonym_kw": ["Irregular proximal femoral metaphyses"], "synonym_std": ["Irregular proximal femoral metaphyses"], "label": ["Proximal femoral metaphyseal irregularity"], "definition_eng": ["Irregularity of the normally smooth surface of the proximal metaphysis of the femur."], "equivalent_curie_std": ["_:59e0e4823b2f7c9c45deb6d53d392ac5"], "category": ["Phenotype"]}, {"synonym": ["Dislocated hips", "Hip dislocation", "Dislocation of hip"], "equivalent_curie_eng": ["_:bd37bf0df168ec4cc0ddb6bc02ef59ae"], "leaf": false, "category_std": ["Phenotype"], "id_std": "HP:0002827", "iri": "http://purl.obolibrary.org/obo/HP_0002827", "equivalent_iri_kw": ["_:bd37bf0df168ec4cc0ddb6bc02ef59ae"], "label_eng": ["Hip dislocation"], "definition_std": ["Displacement of the femur from its normal location in the hip joint."], "id_eng": "HP:0002827", "definition_kw": ["Displacement of the femur from its normal location in the hip joint."], "equivalent_iri_std": ["_:bd37bf0df168ec4cc0ddb6bc02ef59ae"], "category_kw": ["Phenotype"], "iri_eng": "http://purl.obolibrary.org/obo/HP_0002827", "label_std": ["Hip dislocation"], "equivalent_curie": ["_:bd37bf0df168ec4cc0ddb6bc02ef59ae"], "equivalent_curie_kw": ["_:bd37bf0df168ec4cc0ddb6bc02ef59ae"], "synonym_eng": ["Dislocated hips", "Hip dislocation", "Dislocation of hip"], "score": 19.242117, "id_kw": "HP:0002827", "equivalent_iri_eng": ["_:bd37bf0df168ec4cc0ddb6bc02ef59ae"], "label_kw": ["Hip dislocation"], "iri_kw": "http://purl.obolibrary.org/obo/HP_0002827", "equivalent_iri": ["_:bd37bf0df168ec4cc0ddb6bc02ef59ae"], "_version_": 1580845549352910849, "category_eng": ["Phenotype"], "iri_std": "http://purl.obolibrary.org/obo/HP_0002827", "id": "HP:0002827", "definition": ["Displacement of the femur from its normal location in the hip joint."], "synonym_kw": ["Dislocated hips", "Hip dislocation", "Dislocation of hip"], "synonym_std": ["Dislocated hips", "Hip dislocation", "Dislocation of hip"], "label": ["Hip dislocation"], "definition_eng": ["Displacement of the femur from its normal location in the hip joint."], "equivalent_curie_std": ["_:bd37bf0df168ec4cc0ddb6bc02ef59ae"], "category": ["Phenotype"]}, {"synonym": ["Abnormality of wide portion of outermost thighbone"], "leaf": false, "category_std": ["Phenotype"], "id_std": "HP:0030299", "iri": "http://purl.obolibrary.org/obo/HP_0030299", "label_eng": ["Distal femoral metaphyseal abnormality"], "definition_std": ["An anomaly of the metaphysis of the distal femur (close to the knee)."], "id_eng": "HP:0030299", "definition_kw": ["An anomaly of the metaphysis of the distal femur (close to the knee)."], "category_kw": ["Phenotype"], "iri_eng": "http://purl.obolibrary.org/obo/HP_0030299", "label_std": ["Distal femoral metaphyseal abnormality"], "synonym_eng": ["Abnormality of wide portion of outermost thighbone"], "score": 19.242117, "id_kw": "HP:0030299", "label_kw": ["Distal femoral metaphyseal abnormality"], "iri_kw": "http://purl.obolibrary.org/obo/HP_0030299", "_version_": 1580845609113354241, "category_eng": ["Phenotype"], "iri_std": "http://purl.obolibrary.org/obo/HP_0030299", "id": "HP:0030299", "definition": ["An anomaly of the metaphysis of the distal femur (close to the knee)."], "synonym_kw": ["Abnormality of wide portion of outermost thighbone"], "synonym_std": ["Abnormality of wide portion of outermost thighbone"], "label": ["Distal femoral metaphyseal abnormality"], "definition_eng": ["An anomaly of the metaphysis of the distal femur (close to the knee)."], "category": ["Phenotype"]}, {"synonym": ["Irregular distal femoral metaphyses"], "equivalent_curie_eng": ["_:4a9283cee6735fe8791e51732c75397c"], "leaf": true, "category_std": ["Phenotype"], "id_std": "HP:0045079", "iri": "http://purl.obolibrary.org/obo/HP_0045079", "equivalent_iri_kw": ["_:4a9283cee6735fe8791e51732c75397c"], "label_eng": ["Distal femoral metaphyseal irregularity"], "definition_std": ["Irregularity of the normally smooth surface of the distal metaphysis of the femur."], "id_eng": "HP:0045079", "definition_kw": ["Irregularity of the normally smooth surface of the distal metaphysis of the femur."], "equivalent_iri_std": ["_:4a9283cee6735fe8791e51732c75397c"], "category_kw": ["Phenotype"], "iri_eng": "http://purl.obolibrary.org/obo/HP_0045079", "label_std": ["Distal femoral metaphyseal irregularity"], "equivalent_curie": ["_:4a9283cee6735fe8791e51732c75397c"], "equivalent_curie_kw": ["_:4a9283cee6735fe8791e51732c75397c"], "synonym_eng": ["Irregular distal femoral metaphyses"], "score": 19.242117, "id_kw": "HP:0045079", "equivalent_iri_eng": ["_:4a9283cee6735fe8791e51732c75397c"], "label_kw": ["Distal femoral metaphyseal irregularity"], "iri_kw": "http://purl.obolibrary.org/obo/HP_0045079", "equivalent_iri": ["_:4a9283cee6735fe8791e51732c75397c"], "_version_": 1580845609569484801, "category_eng": ["Phenotype"], "iri_std": "http://purl.obolibrary.org/obo/HP_0045079", "id": "HP:0045079", "definition": ["Irregularity of the normally smooth surface of the distal metaphysis of the femur."], "synonym_kw": ["Irregular distal femoral metaphyses"], "synonym_std": ["Irregular distal femoral metaphyses"], "label": ["Distal femoral metaphyseal irregularity"], "definition_eng": ["Irregularity of the normally smooth surface of the distal metaphysis of the femur."], "equivalent_curie_std": ["_:4a9283cee6735fe8791e51732c75397c"], "category": ["Phenotype"]}, {"leaf": true, "category_std": ["Phenotype"], "id_std": "HP:0012106", "iri": "http://purl.obolibrary.org/obo/HP_0012106", "label_eng": ["Rhizomelic leg shortening"], "definition_std": ["Disproportionate shortening of the proximal segment of the leg (i.e. the femur)."], "id_eng": "HP:0012106", "definition_kw": ["Disproportionate shortening of the proximal segment of the leg (i.e. the femur)."], "category_kw": ["Phenotype"], "iri_eng": "http://purl.obolibrary.org/obo/HP_0012106", "label_std": ["Rhizomelic leg shortening"], "score": 19.242117, "id_kw": "HP:0012106", "label_kw": ["Rhizomelic leg shortening"], "iri_kw": "http://purl.obolibrary.org/obo/HP_0012106", "_version_": 1580845617237721089, "category_eng": ["Phenotype"], "iri_std": "http://purl.obolibrary.org/obo/HP_0012106", "id": "HP:0012106", "definition": ["Disproportionate shortening of the proximal segment of the leg (i.e. the femur)."], "label": ["Rhizomelic leg shortening"], "definition_eng": ["Disproportionate shortening of the proximal segment of the leg (i.e. the femur)."], "category": ["Phenotype"]}, {"synonym": ["Legg-Calve-Perthes syndrome", "Morbus Legg-Calve-Perthes", "Legg-Perthes disease", "Coxa plana", "Perthes-like femoral head changes", "Osteochondrosis of the femoral head"], "leaf": true, "category_std": ["Phenotype"], "id_std": "HP:0005743", "iri": "http://purl.obolibrary.org/obo/HP_0005743", "label_eng": ["Avascular necrosis of the capital femoral epiphysis"], "definition_std": ["Avascular necrosis of the proximal epiphysis of the femur occurring in growing children and caused by an interruption of the blood supply to the head of the femur close to the hip joint. The necrosis is characteristically associated with flattening of the femoral head, for which reason the term coxa plana has been used to refer to this feature in the medical literature."], "id_eng": "HP:0005743", "definition_kw": ["Avascular necrosis of the proximal epiphysis of the femur occurring in growing children and caused by an interruption of the blood supply to the head of the femur close to the hip joint. The necrosis is characteristically associated with flattening of the femoral head, for which reason the term coxa plana has been used to refer to this feature in the medical literature."], "category_kw": ["Phenotype"], "iri_eng": "http://purl.obolibrary.org/obo/HP_0005743", "label_std": ["Avascular necrosis of the capital femoral epiphysis"], "synonym_eng": ["Legg-Calve-Perthes syndrome", "Morbus Legg-Calve-Perthes", "Legg-Perthes disease", "Coxa plana", "Perthes-like femoral head changes", "Osteochondrosis of the femoral head"], "score": 18.677832, "id_kw": "HP:0005743", "label_kw": ["Avascular necrosis of the capital femoral epiphysis"], "iri_kw": "http://purl.obolibrary.org/obo/HP_0005743", "_version_": 1580845592382275584, "category_eng": ["Phenotype"], "iri_std": "http://purl.obolibrary.org/obo/HP_0005743", "id": "HP:0005743", "definition": ["Avascular necrosis of the proximal epiphysis of the femur occurring in growing children and caused by an interruption of the blood supply to the head of the femur close to the hip joint. The necrosis is characteristically associated with flattening of the femoral head, for which reason the term coxa plana has been used to refer to this feature in the medical literature."], "synonym_kw": ["Legg-Calve-Perthes syndrome", "Morbus Legg-Calve-Perthes", "Legg-Perthes disease", "Coxa plana", "Perthes-like femoral head changes", "Osteochondrosis of the femoral head"], "synonym_std": ["Legg-Calve-Perthes syndrome", "Morbus Legg-Calve-Perthes", "Legg-Perthes disease", "Coxa plana", "Perthes-like femoral head changes", "Osteochondrosis of the femoral head"], "label": ["Avascular necrosis of the capital femoral epiphysis"], "definition_eng": ["Avascular necrosis of the proximal epiphysis of the femur occurring in growing children and caused by an interruption of the blood supply to the head of the femur close to the hip joint. The necrosis is characteristically associated with flattening of the femoral head, for which reason the term coxa plana has been used to refer to this feature in the medical literature."], "category": ["Phenotype"]}, {"synonym": ["increased femoral fat depot weight"], "equivalent_curie_eng": ["_:d96d12ac85350e158b0fa02d2acb5e8d"], "leaf": true, "category_std": ["Phenotype"], "id_std": "MP:0009290", "iri": "http://purl.obolibrary.org/obo/MP_0009290", "equivalent_iri_kw": ["_:d96d12ac85350e158b0fa02d2acb5e8d"], "label_eng": ["increased femoral fat pad weight"], "definition_std": ["greater than average weight of the encapsulated adipose tissue associated with the femur"], "id_eng": "MP:0009290", "definition_kw": ["greater than average weight of the encapsulated adipose tissue associated with the femur"], "equivalent_iri_std": ["_:d96d12ac85350e158b0fa02d2acb5e8d"], "category_kw": ["Phenotype"], "iri_eng": "http://purl.obolibrary.org/obo/MP_0009290", "label_std": ["increased femoral fat pad weight"], "equivalent_curie": ["_:d96d12ac85350e158b0fa02d2acb5e8d"], "equivalent_curie_kw": ["_:d96d12ac85350e158b0fa02d2acb5e8d"], "synonym_eng": ["increased femoral fat depot weight"], "score": 18.563522, "id_kw": "MP:0009290", "equivalent_iri_eng": ["_:d96d12ac85350e158b0fa02d2acb5e8d"], "label_kw": ["increased femoral fat pad weight"], "iri_kw": "http://purl.obolibrary.org/obo/MP_0009290", "equivalent_iri": ["_:d96d12ac85350e158b0fa02d2acb5e8d"], "_version_": 1580845589207187458, "category_eng": ["Phenotype"], "iri_std": "http://purl.obolibrary.org/obo/MP_0009290", "id": "MP:0009290", "definition": ["greater than average weight of the encapsulated adipose tissue associated with the femur"], "synonym_kw": ["increased femoral fat depot weight"], "synonym_std": ["increased femoral fat depot weight"], "label": ["increased femoral fat pad weight"], "definition_eng": ["greater than average weight of the encapsulated adipose tissue associated with the femur"], "equivalent_curie_std": ["_:d96d12ac85350e158b0fa02d2acb5e8d"], "category": ["Phenotype"]}, {"equivalent_curie_eng": ["_:709a24a0d96debcf2452ea63731a2eac"], "leaf": false, "category_std": ["Phenotype"], "id_std": "MP:0003856", "iri": "http://purl.obolibrary.org/obo/MP_0003856", "equivalent_iri_kw": ["_:709a24a0d96debcf2452ea63731a2eac"], "label_eng": ["abnormal hindlimb stylopod morphology"], "definition_std": ["any structural anomaly of the proximal element of the hindlimb including the femur"], "id_eng": "MP:0003856", "definition_kw": ["any structural anomaly of the proximal element of the hindlimb including the femur"], "equivalent_iri_std": ["_:709a24a0d96debcf2452ea63731a2eac"], "category_kw": ["Phenotype"], "iri_eng": "http://purl.obolibrary.org/obo/MP_0003856", "label_std": ["abnormal hindlimb stylopod morphology"], "equivalent_curie": ["_:709a24a0d96debcf2452ea63731a2eac"], "equivalent_curie_kw": ["_:709a24a0d96debcf2452ea63731a2eac"], "score": 18.563522, "id_kw": "MP:0003856", "equivalent_iri_eng": ["_:709a24a0d96debcf2452ea63731a2eac"], "label_kw": ["abnormal hindlimb stylopod morphology"], "iri_kw": "http://purl.obolibrary.org/obo/MP_0003856", "equivalent_iri": ["_:709a24a0d96debcf2452ea63731a2eac"], "_version_": 1580845589297364992, "category_eng": ["Phenotype"], "iri_std": "http://purl.obolibrary.org/obo/MP_0003856", "id": "MP:0003856", "definition": ["any structural anomaly of the proximal element of the hindlimb including the femur"], "label": ["abnormal hindlimb stylopod morphology"], "definition_eng": ["any structural anomaly of the proximal element of the hindlimb including the femur"], "equivalent_curie_std": ["_:709a24a0d96debcf2452ea63731a2eac"], "category": ["Phenotype"]}, {"synonym": ["medial sesamoid bone of the knee", "abnormal fabella morphology"], "equivalent_curie_eng": ["_:cdec2094d790d475097eddaa8a65c8e2"], "leaf": true, "category_std": ["Phenotype"], "id_std": "MP:0009005", "iri": "http://purl.obolibrary.org/obo/MP_0009005", "equivalent_iri_kw": ["_:cdec2094d790d475097eddaa8a65c8e2"], "label_eng": ["abnormal sesamoid bone of gastrocnemius morphology"], "definition_std": ["any structural anomaly of the small sesamoid bones situated behind the condyles of the femur"], "id_eng": "MP:0009005", "definition_kw": ["any structural anomaly of the small sesamoid bones situated behind the condyles of the femur"], "equivalent_iri_std": ["_:cdec2094d790d475097eddaa8a65c8e2"], "category_kw": ["Phenotype"], "iri_eng": "http://purl.obolibrary.org/obo/MP_0009005", "label_std": ["abnormal sesamoid bone of gastrocnemius morphology"], "equivalent_curie": ["_:cdec2094d790d475097eddaa8a65c8e2"], "equivalent_curie_kw": ["_:cdec2094d790d475097eddaa8a65c8e2"], "synonym_eng": ["medial sesamoid bone of the knee", "abnormal fabella morphology"], "score": 18.563522, "id_kw": "MP:0009005", "equivalent_iri_eng": ["_:cdec2094d790d475097eddaa8a65c8e2"], "label_kw": ["abnormal sesamoid bone of gastrocnemius morphology"], "iri_kw": "http://purl.obolibrary.org/obo/MP_0009005", "equivalent_iri": ["_:cdec2094d790d475097eddaa8a65c8e2"], "_version_": 1580845590176071680, "category_eng": ["Phenotype"], "iri_std": "http://purl.obolibrary.org/obo/MP_0009005", "id": "MP:0009005", "definition": ["any structural anomaly of the small sesamoid bones situated behind the condyles of the femur"], "synonym_kw": ["medial sesamoid bone of the knee", "abnormal fabella morphology"], "synonym_std": ["medial sesamoid bone of the knee", "abnormal fabella morphology"], "label": ["abnormal sesamoid bone of gastrocnemius morphology"], "definition_eng": ["any structural anomaly of the small sesamoid bones situated behind the condyles of the femur"], "equivalent_curie_std": ["_:cdec2094d790d475097eddaa8a65c8e2"], "category": ["Phenotype"]}, {"synonym": ["Limited hip movement"], "leaf": false, "category_std": ["Phenotype"], "id_std": "HP:0008800", "iri": "http://purl.obolibrary.org/obo/HP_0008800", "label_eng": ["Limited hip movement"], "definition_std": ["A decreased ability to move the femur at the hip joint associated with a decreased range of motion of the hip."], "id_eng": "HP:0008800", "definition_kw": ["A decreased ability to move the femur at the hip joint associated with a decreased range of motion of the hip."], "category_kw": ["Phenotype"], "iri_eng": "http://purl.obolibrary.org/obo/HP_0008800", "label_std": ["Limited hip movement"], "synonym_eng": ["Limited hip movement"], "score": 18.563522, "id_kw": "HP:0008800", "label_kw": ["Limited hip movement"], "iri_kw": "http://purl.obolibrary.org/obo/HP_0008800", "_version_": 1580845591162781699, "category_eng": ["Phenotype"], "iri_std": "http://purl.obolibrary.org/obo/HP_0008800", "id": "HP:0008800", "definition": ["A decreased ability to move the femur at the hip joint associated with a decreased range of motion of the hip."], "synonym_kw": ["Limited hip movement"], "synonym_std": ["Limited hip movement"], "label": ["Limited hip movement"], "definition_eng": ["A decreased ability to move the femur at the hip joint associated with a decreased range of motion of the hip."], "category": ["Phenotype"]}, {"synonym": ["Increased long bone fracture rate"], "equivalent_curie_eng": ["_:354a13905fe244a3ab69e22f40697193"], "leaf": false, "category_std": ["Phenotype"], "id_std": "HP:0003084", "iri": "http://purl.obolibrary.org/obo/HP_0003084", "equivalent_iri_kw": ["_:354a13905fe244a3ab69e22f40697193"], "label_eng": ["Fractures of the long bones"], "definition_std": ["An increased tendency to fractures of the long bones (Mainly, the femur, tibia, fibula,humerus, radius, and ulna)."], "id_eng": "HP:0003084", "definition_kw": ["An increased tendency to fractures of the long bones (Mainly, the femur, tibia, fibula,humerus, radius, and ulna)."], "equivalent_iri_std": ["_:354a13905fe244a3ab69e22f40697193"], "category_kw": ["Phenotype"], "iri_eng": "http://purl.obolibrary.org/obo/HP_0003084", "label_std": ["Fractures of the long bones"], "equivalent_curie": ["_:354a13905fe244a3ab69e22f40697193"], "equivalent_curie_kw": ["_:354a13905fe244a3ab69e22f40697193"], "synonym_eng": ["Increased long bone fracture rate"], "score": 18.563522, "id_kw": "HP:0003084", "equivalent_iri_eng": ["_:354a13905fe244a3ab69e22f40697193"], "label_kw": ["Fractures of the long bones"], "iri_kw": "http://purl.obolibrary.org/obo/HP_0003084", "equivalent_iri": ["_:354a13905fe244a3ab69e22f40697193"], "_version_": 1580845591320068098, "category_eng": ["Phenotype"], "iri_std": "http://purl.obolibrary.org/obo/HP_0003084", "id": "HP:0003084", "definition": ["An increased tendency to fractures of the long bones (Mainly, the femur, tibia, fibula,humerus, radius, and ulna)."], "synonym_kw": ["Increased long bone fracture rate"], "synonym_std": ["Increased long bone fracture rate"], "label": ["Fractures of the long bones"], "definition_eng": ["An increased tendency to fractures of the long bones (Mainly, the femur, tibia, fibula,humerus, radius, and ulna)."], "equivalent_curie_std": ["_:354a13905fe244a3ab69e22f40697193"], "category": ["Phenotype"]}, {"synonym": ["Irregular outermost thighbone end part"], "equivalent_curie_eng": ["_:1a0c65adf3561c6be62983eb1b8d9b58"], "leaf": true, "category_std": ["Phenotype"], "id_std": "HP:0006407", "iri": "http://purl.obolibrary.org/obo/HP_0006407", "equivalent_iri_kw": ["_:1a0c65adf3561c6be62983eb1b8d9b58"], "label_eng": ["Irregular distal femoral epiphysis"], "definition_std": ["Anomaly of the contour of the Distal epiphysis of femur such that its normally smooth appearance is irregular."], "id_eng": "HP:0006407", "definition_kw": ["Anomaly of the contour of the Distal epiphysis of femur such that its normally smooth appearance is irregular."], "equivalent_iri_std": ["_:1a0c65adf3561c6be62983eb1b8d9b58"], "category_kw": ["Phenotype"], "iri_eng": "http://purl.obolibrary.org/obo/HP_0006407", "label_std": ["Irregular distal femoral epiphysis"], "equivalent_curie": ["_:1a0c65adf3561c6be62983eb1b8d9b58"], "equivalent_curie_kw": ["_:1a0c65adf3561c6be62983eb1b8d9b58"], "synonym_eng": ["Irregular outermost thighbone end part"], "score": 18.563522, "id_kw": "HP:0006407", "equivalent_iri_eng": ["_:1a0c65adf3561c6be62983eb1b8d9b58"], "label_kw": ["Irregular distal femoral epiphysis"], "iri_kw": "http://purl.obolibrary.org/obo/HP_0006407", "equivalent_iri": ["_:1a0c65adf3561c6be62983eb1b8d9b58"], "_version_": 1580845591733207042, "category_eng": ["Phenotype"], "iri_std": "http://purl.obolibrary.org/obo/HP_0006407", "id": "HP:0006407", "definition": ["Anomaly of the contour of the Distal epiphysis of femur such that its normally smooth appearance is irregular."], "synonym_kw": ["Irregular outermost thighbone end part"], "synonym_std": ["Irregular outermost thighbone end part"], "label": ["Irregular distal femoral epiphysis"], "definition_eng": ["Anomaly of the contour of the Distal epiphysis of femur such that its normally smooth appearance is irregular."], "equivalent_curie_std": ["_:1a0c65adf3561c6be62983eb1b8d9b58"], "category": ["Phenotype"]}, {"synonym": ["Abnormal shape of pelvic girdle bone", "Abnormality of the pelvic girdle"], "equivalent_curie_eng": ["_:1de7428c606f5752446b4418805adb5b", "HP:0040163", "_:f8ff15f199bc6e408019be4cbc260452", "MP:0004509"], "leaf": false, "category_std": ["Phenotype"], "id_std": "HP:0002644", "iri": "http://purl.obolibrary.org/obo/HP_0002644", "equivalent_iri_kw": ["_:1de7428c606f5752446b4418805adb5b", "http://purl.obolibrary.org/obo/HP_0040163", "_:f8ff15f199bc6e408019be4cbc260452", "http://purl.obolibrary.org/obo/MP_0004509"], "label_eng": ["Abnormality of pelvic girdle bone morphology"], "definition_std": ["An abnormality of the bony pelvic girdle, which is a ring of bones connecting the vertebral column to the femurs."], "id_eng": "HP:0002644", "definition_kw": ["An abnormality of the bony pelvic girdle, which is a ring of bones connecting the vertebral column to the femurs."], "equivalent_iri_std": ["_:1de7428c606f5752446b4418805adb5b", "http://purl.obolibrary.org/obo/HP_0040163", "_:f8ff15f199bc6e408019be4cbc260452", "http://purl.obolibrary.org/obo/MP_0004509"], "category_kw": ["Phenotype"], "iri_eng": "http://purl.obolibrary.org/obo/HP_0002644", "label_std": ["Abnormality of pelvic girdle bone morphology"], "equivalent_curie": ["_:1de7428c606f5752446b4418805adb5b", "HP:0040163", "_:f8ff15f199bc6e408019be4cbc260452", "MP:0004509"], "equivalent_curie_kw": ["_:1de7428c606f5752446b4418805adb5b", "HP:0040163", "_:f8ff15f199bc6e408019be4cbc260452", "MP:0004509"], "synonym_eng": ["Abnormal shape of pelvic girdle bone", "Abnormality of the pelvic girdle"], "score": 18.563522, "id_kw": "HP:0002644", "equivalent_iri_eng": ["_:1de7428c606f5752446b4418805adb5b", "http://purl.obolibrary.org/obo/HP_0040163", "_:f8ff15f199bc6e408019be4cbc260452", "http://purl.obolibrary.org/obo/MP_0004509"], "label_kw": ["Abnormality of pelvic girdle bone morphology"], "iri_kw": "http://purl.obolibrary.org/obo/HP_0002644", "equivalent_iri": ["_:1de7428c606f5752446b4418805adb5b", "http://purl.obolibrary.org/obo/HP_0040163", "_:f8ff15f199bc6e408019be4cbc260452", "http://purl.obolibrary.org/obo/MP_0004509"], "_version_": 1580845591742644224, "category_eng": ["Phenotype"], "iri_std": "http://purl.obolibrary.org/obo/HP_0002644", "id": "HP:0002644", "definition": ["An abnormality of the bony pelvic girdle, which is a ring of bones connecting the vertebral column to the femurs."], "synonym_kw": ["Abnormal shape of pelvic girdle bone", "Abnormality of the pelvic girdle"], "synonym_std": ["Abnormal shape of pelvic girdle bone", "Abnormality of the pelvic girdle"], "label": ["Abnormality of pelvic girdle bone morphology"], "definition_eng": ["An abnormality of the bony pelvic girdle, which is a ring of bones connecting the vertebral column to the femurs."], "equivalent_curie_std": ["_:1de7428c606f5752446b4418805adb5b", "HP:0040163", "_:f8ff15f199bc6e408019be4cbc260452", "MP:0004509"], "category": ["Phenotype"]}, {"synonym": ["Bowing of thighbone at birth, straightening with time"], "leaf": true, "category_std": ["Phenotype"], "id_std": "HP:0005005", "iri": "http://purl.obolibrary.org/obo/HP_0005005", "label_eng": ["Femoral bowing present at birth, straightening with time"], "definition_std": ["Congenital onset bending or abnormal curvature of the femur that normalizes with age."], "id_eng": "HP:0005005", "definition_kw": ["Congenital onset bending or abnormal curvature of the femur that normalizes with age."], "category_kw": ["Phenotype"], "iri_eng": "http://purl.obolibrary.org/obo/HP_0005005", "label_std": ["Femoral bowing present at birth, straightening with time"], "synonym_eng": ["Bowing of thighbone at birth, straightening with time"], "score": 18.563522, "id_kw": "HP:0005005", "label_kw": ["Femoral bowing present at birth, straightening with time"], "iri_kw": "http://purl.obolibrary.org/obo/HP_0005005", "_version_": 1580845593157173250, "category_eng": ["Phenotype"], "iri_std": "http://purl.obolibrary.org/obo/HP_0005005", "id": "HP:0005005", "definition": ["Congenital onset bending or abnormal curvature of the femur that normalizes with age."], "synonym_kw": ["Bowing of thighbone at birth, straightening with time"], "synonym_std": ["Bowing of thighbone at birth, straightening with time"], "label": ["Femoral bowing present at birth, straightening with time"], "definition_eng": ["Congenital onset bending or abnormal curvature of the femur that normalizes with age."], "category": ["Phenotype"]}, {"synonym": ["Rhizomelic short stature", "Symmetrical rhizomelic limb shortening", "Rhizomelic shortening", "Short stature, rhizomelic", "Rhizomelic dwarfism", "Rhizomelic limb shortening", "Rhizomelic short limbs"], "leaf": false, "category_std": ["Phenotype"], "id_std": "HP:0008905", "iri": "http://purl.obolibrary.org/obo/HP_0008905", "label_eng": ["Rhizomelia"], "definition_std": ["Disproportionate shortening of the proximal segment of limbs (i.e. the femur and humerus)."], "id_eng": "HP:0008905", "definition_kw": ["Disproportionate shortening of the proximal segment of limbs (i.e. the femur and humerus)."], "category_kw": ["Phenotype"], "iri_eng": "http://purl.obolibrary.org/obo/HP_0008905", "label_std": ["Rhizomelia"], "synonym_eng": ["Rhizomelic short stature", "Symmetrical rhizomelic limb shortening", "Rhizomelic shortening", "Short stature, rhizomelic", "Rhizomelic dwarfism", "Rhizomelic limb shortening", "Rhizomelic short limbs"], "score": 18.563522, "id_kw": "HP:0008905", "label_kw": ["Rhizomelia"], "iri_kw": "http://purl.obolibrary.org/obo/HP_0008905", "_version_": 1580845593303973892, "category_eng": ["Phenotype"], "iri_std": "http://purl.obolibrary.org/obo/HP_0008905", "id": "HP:0008905", "definition": ["Disproportionate shortening of the proximal segment of limbs (i.e. the femur and humerus)."], "synonym_kw": ["Rhizomelic short stature", "Symmetrical rhizomelic limb shortening", "Rhizomelic shortening", "Short stature, rhizomelic", "Rhizomelic dwarfism", "Rhizomelic limb shortening", "Rhizomelic short limbs"], "synonym_std": ["Rhizomelic short stature", "Symmetrical rhizomelic limb shortening", "Rhizomelic shortening", "Short stature, rhizomelic", "Rhizomelic dwarfism", "Rhizomelic limb shortening", "Rhizomelic short limbs"], "label": ["Rhizomelia"], "definition_eng": ["Disproportionate shortening of the proximal segment of limbs (i.e. the femur and humerus)."], "category": ["Phenotype"]}, {"leaf": true, "category_std": ["Phenotype"], "id_std": "HP:0030772", "iri": "http://purl.obolibrary.org/obo/HP_0030772", "label_eng": ["Proximal femoral focal deficiency"], "definition_std": ["Proximal femoral focal deficiency is a deformity manifested by hypoplasia of a variable portion of the femur with shortening of the entire limb."], "id_eng": "HP:0030772", "definition_kw": ["Proximal femoral focal deficiency is a deformity manifested by hypoplasia of a variable portion of the femur with shortening of the entire limb."], "category_kw": ["Phenotype"], "iri_eng": "http://purl.obolibrary.org/obo/HP_0030772", "label_std": ["Proximal femoral focal deficiency"], "score": 18.563522, "id_kw": "HP:0030772", "label_kw": ["Proximal femoral focal deficiency"], "iri_kw": "http://purl.obolibrary.org/obo/HP_0030772", "_version_": 1580845609330409473, "category_eng": ["Phenotype"], "iri_std": "http://purl.obolibrary.org/obo/HP_0030772", "id": "HP:0030772", "definition": ["Proximal femoral focal deficiency is a deformity manifested by hypoplasia of a variable portion of the femur with shortening of the entire limb."], "label": ["Proximal femoral focal deficiency"], "definition_eng": ["Proximal femoral focal deficiency is a deformity manifested by hypoplasia of a variable portion of the femur with shortening of the entire limb."], "category": ["Phenotype"]}, {"synonym": ["Partial hip dislocation", "Subluxation involving the hip joint"], "leaf": true, "category_std": ["Phenotype"], "id_std": "HP:0030043", "iri": "http://purl.obolibrary.org/obo/HP_0030043", "label_eng": ["Hip subluxation"], "definition_std": ["A partial dislocation of the hip joint, whereby the head of the femur is partially displaced from the socket."], "id_eng": "HP:0030043", "definition_kw": ["A partial dislocation of the hip joint, whereby the head of the femur is partially displaced from the socket."], "category_kw": ["Phenotype"], "iri_eng": "http://purl.obolibrary.org/obo/HP_0030043", "label_std": ["Hip subluxation"], "synonym_eng": ["Partial hip dislocation", "Subluxation involving the hip joint"], "score": 18.563522, "id_kw": "HP:0030043", "label_kw": ["Hip subluxation"], "iri_kw": "http://purl.obolibrary.org/obo/HP_0030043", "_version_": 1580845573378932738, "category_eng": ["Phenotype"], "iri_std": "http://purl.obolibrary.org/obo/HP_0030043", "id": "HP:0030043", "definition": ["A partial dislocation of the hip joint, whereby the head of the femur is partially displaced from the socket."], "synonym_kw": ["Partial hip dislocation", "Subluxation involving the hip joint"], "synonym_std": ["Partial hip dislocation", "Subluxation involving the hip joint"], "label": ["Hip subluxation"], "definition_eng": ["A partial dislocation of the hip joint, whereby the head of the femur is partially displaced from the socket."], "category": ["Phenotype"]}, {"synonym": ["abnormal femoral fat depot morphology", "femoral fat pad dysplasia"], "equivalent_curie_eng": ["_:ac2d2a59a841e17e3e0bcb13d08f38f3"], "leaf": false, "category_std": ["Phenotype"], "id_std": "MP:0008905", "iri": "http://purl.obolibrary.org/obo/MP_0008905", "equivalent_iri_kw": ["_:ac2d2a59a841e17e3e0bcb13d08f38f3"], "label_eng": ["abnormal femoral fat pad morphology"], "definition_std": ["any structural anomaly of the encapsulated adipose tissue associated with the femur"], "id_eng": "MP:0008905", "definition_kw": ["any structural anomaly of the encapsulated adipose tissue associated with the femur"], "equivalent_iri_std": ["_:ac2d2a59a841e17e3e0bcb13d08f38f3"], "category_kw": ["Phenotype"], "iri_eng": "http://purl.obolibrary.org/obo/MP_0008905", "label_std": ["abnormal femoral fat pad morphology"], "equivalent_curie": ["_:ac2d2a59a841e17e3e0bcb13d08f38f3"], "equivalent_curie_kw": ["_:ac2d2a59a841e17e3e0bcb13d08f38f3"], "synonym_eng": ["abnormal femoral fat depot morphology", "femoral fat pad dysplasia"], "score": 18.563522, "id_kw": "MP:0008905", "equivalent_iri_eng": ["_:ac2d2a59a841e17e3e0bcb13d08f38f3"], "label_kw": ["abnormal femoral fat pad morphology"], "iri_kw": "http://purl.obolibrary.org/obo/MP_0008905", "equivalent_iri": ["_:ac2d2a59a841e17e3e0bcb13d08f38f3"], "_version_": 1580845620965408768, "category_eng": ["Phenotype"], "iri_std": "http://purl.obolibrary.org/obo/MP_0008905", "id": "MP:0008905", "definition": ["any structural anomaly of the encapsulated adipose tissue associated with the femur"], "synonym_kw": ["abnormal femoral fat depot morphology", "femoral fat pad dysplasia"], "synonym_std": ["abnormal femoral fat depot morphology", "femoral fat pad dysplasia"], "label": ["abnormal femoral fat pad morphology"], "definition_eng": ["any structural anomaly of the encapsulated adipose tissue associated with the femur"], "equivalent_curie_std": ["_:ac2d2a59a841e17e3e0bcb13d08f38f3"], "category": ["Phenotype"]}, {"synonym": ["reduced femoral fat pad weight", "reduced femoral fat depot weight", "decreased femoral fat depot weight"], "equivalent_curie_eng": ["_:f314a535fefd2da5fde6fd50e6452a53"], "leaf": true, "category_std": ["Phenotype"], "id_std": "MP:0009291", "iri": "http://purl.obolibrary.org/obo/MP_0009291", "equivalent_iri_kw": ["_:f314a535fefd2da5fde6fd50e6452a53"], "label_eng": ["decreased femoral fat pad weight"], "definition_std": ["less than average weight of the encapsulated adipose tissue associated with the femur"], "id_eng": "MP:0009291", "definition_kw": ["less than average weight of the encapsulated adipose tissue associated with the femur"], "equivalent_iri_std": ["_:f314a535fefd2da5fde6fd50e6452a53"], "category_kw": ["Phenotype"], "iri_eng": "http://purl.obolibrary.org/obo/MP_0009291", "label_std": ["decreased femoral fat pad weight"], "equivalent_curie": ["_:f314a535fefd2da5fde6fd50e6452a53"], "equivalent_curie_kw": ["_:f314a535fefd2da5fde6fd50e6452a53"], "synonym_eng": ["reduced femoral fat pad weight", "reduced femoral fat depot weight", "decreased femoral fat depot weight"], "score": 18.563522, "id_kw": "MP:0009291", "equivalent_iri_eng": ["_:f314a535fefd2da5fde6fd50e6452a53"], "label_kw": ["decreased femoral fat pad weight"], "iri_kw": "http://purl.obolibrary.org/obo/MP_0009291", "equivalent_iri": ["_:f314a535fefd2da5fde6fd50e6452a53"], "_version_": 1580845588665073665, "category_eng": ["Phenotype"], "iri_std": "http://purl.obolibrary.org/obo/MP_0009291", "id": "MP:0009291", "definition": ["less than average weight of the encapsulated adipose tissue associated with the femur"], "synonym_kw": ["reduced femoral fat pad weight", "reduced femoral fat depot weight", "decreased femoral fat depot weight"], "synonym_std": ["reduced femoral fat pad weight", "reduced femoral fat depot weight", "decreased femoral fat depot weight"], "label": ["decreased femoral fat pad weight"], "definition_eng": ["less than average weight of the encapsulated adipose tissue associated with the femur"], "equivalent_curie_std": ["_:f314a535fefd2da5fde6fd50e6452a53"], "category": ["Phenotype"]}, {"equivalent_curie_eng": ["_:1897148e7184b24d76ba03150d9eb815"], "leaf": true, "category_std": ["Phenotype"], "id_std": "HP:0008835", "iri": "http://purl.obolibrary.org/obo/HP_0008835", "equivalent_iri_kw": ["_:1897148e7184b24d76ba03150d9eb815"], "label_eng": ["Multicentric femoral head ossification"], "definition_std": ["There is normally one ossification center in the head of the femur. This term applies if there are multiple such centers."], "id_eng": "HP:0008835", "definition_kw": ["There is normally one ossification center in the head of the femur. This term applies if there are multiple such centers."], "equivalent_iri_std": ["_:1897148e7184b24d76ba03150d9eb815"], "category_kw": ["Phenotype"], "iri_eng": "http://purl.obolibrary.org/obo/HP_0008835", "label_std": ["Multicentric femoral head ossification"], "equivalent_curie": ["_:1897148e7184b24d76ba03150d9eb815"], "equivalent_curie_kw": ["_:1897148e7184b24d76ba03150d9eb815"], "score": 18.023045, "id_kw": "HP:0008835", "equivalent_iri_eng": ["_:1897148e7184b24d76ba03150d9eb815"], "label_kw": ["Multicentric femoral head ossification"], "iri_kw": "http://purl.obolibrary.org/obo/HP_0008835", "equivalent_iri": ["_:1897148e7184b24d76ba03150d9eb815"], "_version_": 1580845591154393090, "category_eng": ["Phenotype"], "iri_std": "http://purl.obolibrary.org/obo/HP_0008835", "id": "HP:0008835", "definition": ["There is normally one ossification center in the head of the femur. This term applies if there are multiple such centers."], "label": ["Multicentric femoral head ossification"], "definition_eng": ["There is normally one ossification center in the head of the femur. This term applies if there are multiple such centers."], "equivalent_curie_std": ["_:1897148e7184b24d76ba03150d9eb815"], "category": ["Phenotype"]}, {"synonym": ["Abnormality of the hipbone socket", "Acetabular abnormality"], "equivalent_curie_eng": ["_:f7d87ad87afedf79e644a6b04ec70f39"], "leaf": false, "category_std": ["Phenotype"], "id_std": "HP:0003170", "iri": "http://purl.obolibrary.org/obo/HP_0003170", "equivalent_iri_kw": ["_:f7d87ad87afedf79e644a6b04ec70f39"], "label_eng": ["Abnormality of the acetabulum"], "definition_std": ["An abnormality of the acetabulum, i.e., the Acetabular part of hip bone, which together with the head of the femur forms the hip joint."], "id_eng": "HP:0003170", "definition_kw": ["An abnormality of the acetabulum, i.e., the Acetabular part of hip bone, which together with the head of the femur forms the hip joint."], "equivalent_iri_std": ["_:f7d87ad87afedf79e644a6b04ec70f39"], "category_kw": ["Phenotype"], "iri_eng": "http://purl.obolibrary.org/obo/HP_0003170", "label_std": ["Abnormality of the acetabulum"], "equivalent_curie": ["_:f7d87ad87afedf79e644a6b04ec70f39"], "equivalent_curie_kw": ["_:f7d87ad87afedf79e644a6b04ec70f39"], "synonym_eng": ["Abnormality of the hipbone socket", "Acetabular abnormality"], "score": 18.023045, "id_kw": "HP:0003170", "equivalent_iri_eng": ["_:f7d87ad87afedf79e644a6b04ec70f39"], "label_kw": ["Abnormality of the acetabulum"], "iri_kw": "http://purl.obolibrary.org/obo/HP_0003170", "equivalent_iri": ["_:f7d87ad87afedf79e644a6b04ec70f39"], "_version_": 1580845593168707585, "category_eng": ["Phenotype"], "iri_std": "http://purl.obolibrary.org/obo/HP_0003170", "id": "HP:0003170", "definition": ["An abnormality of the acetabulum, i.e., the Acetabular part of hip bone, which together with the head of the femur forms the hip joint."], "synonym_kw": ["Abnormality of the hipbone socket", "Acetabular abnormality"], "synonym_std": ["Abnormality of the hipbone socket", "Acetabular abnormality"], "label": ["Abnormality of the acetabulum"], "definition_eng": ["An abnormality of the acetabulum, i.e., the Acetabular part of hip bone, which together with the head of the femur forms the hip joint."], "equivalent_curie_std": ["_:f7d87ad87afedf79e644a6b04ec70f39"], "category": ["Phenotype"]}, {"equivalent_curie_eng": ["_:c5d0b0dbad2adae96f9eecf73e856e4a"], "leaf": true, "category_std": ["Phenotype"], "id_std": "HP:0002812", "iri": "http://purl.obolibrary.org/obo/HP_0002812", "equivalent_iri_kw": ["_:c5d0b0dbad2adae96f9eecf73e856e4a"], "label_eng": ["Coxa vara"], "definition_std": ["Coxa vara includes all forms of decrease of the femoral neck shaft angle (the angle between the neck and the shaft of the femur) to less than 120 degrees."], "id_eng": "HP:0002812", "definition_kw": ["Coxa vara includes all forms of decrease of the femoral neck shaft angle (the angle between the neck and the shaft of the femur) to less than 120 degrees."], "equivalent_iri_std": ["_:c5d0b0dbad2adae96f9eecf73e856e4a"], "category_kw": ["Phenotype"], "iri_eng": "http://purl.obolibrary.org/obo/HP_0002812", "label_std": ["Coxa vara"], "equivalent_curie": ["_:c5d0b0dbad2adae96f9eecf73e856e4a"], "equivalent_curie_kw": ["_:c5d0b0dbad2adae96f9eecf73e856e4a"], "score": 17.249264, "id_kw": "HP:0002812", "equivalent_iri_eng": ["_:c5d0b0dbad2adae96f9eecf73e856e4a"], "label_kw": ["Coxa vara"], "iri_kw": "http://purl.obolibrary.org/obo/HP_0002812", "equivalent_iri": ["_:c5d0b0dbad2adae96f9eecf73e856e4a"], "_version_": 1580845591329505281, "category_eng": ["Phenotype"], "iri_std": "http://purl.obolibrary.org/obo/HP_0002812", "id": "HP:0002812", "definition": ["Coxa vara includes all forms of decrease of the femoral neck shaft angle (the angle between the neck and the shaft of the femur) to less than 120 degrees."], "label": ["Coxa vara"], "definition_eng": ["Coxa vara includes all forms of decrease of the femoral neck shaft angle (the angle between the neck and the shaft of the femur) to less than 120 degrees."], "equivalent_curie_std": ["_:c5d0b0dbad2adae96f9eecf73e856e4a"], "category": ["Phenotype"]}, {"synonym": ["Dislocated kneecap", "Dislocation of patella", "Dislocated patellae"], "equivalent_curie_eng": ["_:3b57c085637bd19d8a76e25034b3e4d1"], "leaf": false, "category_std": ["Phenotype"], "id_std": "HP:0002999", "iri": "http://purl.obolibrary.org/obo/HP_0002999", "equivalent_iri_kw": ["_:3b57c085637bd19d8a76e25034b3e4d1"], "label_eng": ["Patellar dislocation"], "definition_std": ["The kneecap normally is located within the groove termed trochlea on the distal femur and can slide up and down in it. Patellar dislocation occurs if the patella fully dislocates out of the groove."], "id_eng": "HP:0002999", "definition_kw": ["The kneecap normally is located within the groove termed trochlea on the distal femur and can slide up and down in it. Patellar dislocation occurs if the patella fully dislocates out of the groove."], "equivalent_iri_std": ["_:3b57c085637bd19d8a76e25034b3e4d1"], "category_kw": ["Phenotype"], "iri_eng": "http://purl.obolibrary.org/obo/HP_0002999", "label_std": ["Patellar dislocation"], "equivalent_curie": ["_:3b57c085637bd19d8a76e25034b3e4d1"], "equivalent_curie_kw": ["_:3b57c085637bd19d8a76e25034b3e4d1"], "synonym_eng": ["Dislocated kneecap", "Dislocation of patella", "Dislocated patellae"], "score": 17.249264, "id_kw": "HP:0002999", "equivalent_iri_eng": ["_:3b57c085637bd19d8a76e25034b3e4d1"], "label_kw": ["Patellar dislocation"], "iri_kw": "http://purl.obolibrary.org/obo/HP_0002999", "equivalent_iri": ["_:3b57c085637bd19d8a76e25034b3e4d1"], "_version_": 1580845593179193346, "category_eng": ["Phenotype"], "iri_std": "http://purl.obolibrary.org/obo/HP_0002999", "id": "HP:0002999", "definition": ["The kneecap normally is located within the groove termed trochlea on the distal femur and can slide up and down in it. Patellar dislocation occurs if the patella fully dislocates out of the groove."], "synonym_kw": ["Dislocated kneecap", "Dislocation of patella", "Dislocated patellae"], "synonym_std": ["Dislocated kneecap", "Dislocation of patella", "Dislocated patellae"], "label": ["Patellar dislocation"], "definition_eng": ["The kneecap normally is located within the groove termed trochlea on the distal femur and can slide up and down in it. Patellar dislocation occurs if the patella fully dislocates out of the groove."], "equivalent_curie_std": ["_:3b57c085637bd19d8a76e25034b3e4d1"], "category": ["Phenotype"]}, {"synonym": ["Impingements, Femoracetabular", "Impingement, Femoroacetabular", "Femoroacetabular Impingement Syndromes", "Impingements, Femoroacetabular", "Femoro-Acetabular Impingement", "Femoroacetabular Impingement", "Impingement, Femoro-Acetabular", "Syndrome, Femoroacetabular Impingement", "Impingement Syndromes, Femoroacetabular", "Impingement, Femoracetabular", "Femoroacetabular Impingement Syndrome", "Syndromes, Femoroacetabular Impingement", "Femoracetabular Impingements", "Impingements, Femoro-Acetabular", "Impingement Syndrome, Femoroacetabular", "Femoroacetabular Impingements", "Femoro-Acetabular Impingements", "Femoro Acetabular Impingement"], "leaf": true, "category_std": ["disease"], "id_std": "MESH:D057925", "iri": "http://purl.obolibrary.org/obo/MESH_D057925", "label_eng": ["Femoracetabular Impingement"], "definition_std": ["A pathological mechanical process that can lead to hip failure. It is caused by abnormalities of the ACETABULUM and/or FEMUR combined with rigorous hip motion, leading to repetitive collisions that damage the soft tissue structures."], "id_eng": "MESH:D057925", "definition_kw": ["A pathological mechanical process that can lead to hip failure. It is caused by abnormalities of the ACETABULUM and/or FEMUR combined with rigorous hip motion, leading to repetitive collisions that damage the soft tissue structures."], "category_kw": ["disease"], "iri_eng": "http://purl.obolibrary.org/obo/MESH_D057925", "label_std": ["Femoracetabular Impingement"], "synonym_eng": ["Impingements, Femoracetabular", "Impingement, Femoroacetabular", "Femoroacetabular Impingement Syndromes", "Impingements, Femoroacetabular", "Femoro-Acetabular Impingement", "Femoroacetabular Impingement", "Impingement, Femoro-Acetabular", "Syndrome, Femoroacetabular Impingement", "Impingement Syndromes, Femoroacetabular", "Impingement, Femoracetabular", "Femoroacetabular Impingement Syndrome", "Syndromes, Femoroacetabular Impingement", "Femoracetabular Impingements", "Impingements, Femoro-Acetabular", "Impingement Syndrome, Femoroacetabular", "Femoroacetabular Impingements", "Femoro-Acetabular Impingements", "Femoro Acetabular Impingement"], "score": 17.249264, "id_kw": "MESH:D057925", "label_kw": ["Femoracetabular Impingement"], "iri_kw": "http://purl.obolibrary.org/obo/MESH_D057925", "_version_": 1580845593918439425, "category_eng": ["disease"], "iri_std": "http://purl.obolibrary.org/obo/MESH_D057925", "id": "MESH:D057925", "definition": ["A pathological mechanical process that can lead to hip failure. It is caused by abnormalities of the ACETABULUM and/or FEMUR combined with rigorous hip motion, leading to repetitive collisions that damage the soft tissue structures."], "synonym_kw": ["Impingements, Femoracetabular", "Impingement, Femoroacetabular", "Femoroacetabular Impingement Syndromes", "Impingements, Femoroacetabular", "Femoro-Acetabular Impingement", "Femoroacetabular Impingement", "Impingement, Femoro-Acetabular", "Syndrome, Femoroacetabular Impingement", "Impingement Syndromes, Femoroacetabular", "Impingement, Femoracetabular", "Femoroacetabular Impingement Syndrome", "Syndromes, Femoroacetabular Impingement", "Femoracetabular Impingements", "Impingements, Femoro-Acetabular", "Impingement Syndrome, Femoroacetabular", "Femoroacetabular Impingements", "Femoro-Acetabular Impingements", "Femoro Acetabular Impingement"], "synonym_std": ["Impingements, Femoracetabular", "Impingement, Femoroacetabular", "Femoroacetabular Impingement Syndromes", "Impingements, Femoroacetabular", "Femoro-Acetabular Impingement", "Femoroacetabular Impingement", "Impingement, Femoro-Acetabular", "Syndrome, Femoroacetabular Impingement", "Impingement Syndromes, Femoroacetabular", "Impingement, Femoracetabular", "Femoroacetabular Impingement Syndrome", "Syndromes, Femoroacetabular Impingement", "Femoracetabular Impingements", "Impingements, Femoro-Acetabular", "Impingement Syndrome, Femoroacetabular", "Femoroacetabular Impingements", "Femoro-Acetabular Impingements", "Femoro Acetabular Impingement"], "label": ["Femoracetabular Impingement"], "definition_eng": ["A pathological mechanical process that can lead to hip failure. It is caused by abnormalities of the ACETABULUM and/or FEMUR combined with rigorous hip motion, leading to repetitive collisions that damage the soft tissue structures."], "category": ["disease"]}, {"synonym": ["BOWING OF LONG BONES, ASYMMETRIC AND SYMMETRIC"], "equivalent_curie_eng": ["Orphanet:2292"], "leaf": false, "category_std": ["disease"], "id_std": "OMIM:211355", "iri": "http://purl.obolibrary.org/obo/OMIM_211355", "equivalent_iri_kw": ["http://www.orpha.net/ORDO/Orphanet_2292"], "label_eng": ["Congenital bowing of long bones", "Bowing of Long Bones, Asymmetric and Symmetric"], "definition_std": ["Long bone bowing is a congenital condition described by the presence of symmetric or asymmetric angular deformity and shortening of the long bones, particularly the femurs, tibiae and ulnae."], "id_eng": "OMIM:211355", "definition_kw": ["Long bone bowing is a congenital condition described by the presence of symmetric or asymmetric angular deformity and shortening of the long bones, particularly the femurs, tibiae and ulnae."], "equivalent_iri_std": ["http://www.orpha.net/ORDO/Orphanet_2292"], "category_kw": ["disease"], "iri_eng": "http://purl.obolibrary.org/obo/OMIM_211355", "label_std": ["Congenital bowing of long bones", "Bowing of Long Bones, Asymmetric and Symmetric"], "equivalent_curie": ["Orphanet:2292"], "equivalent_curie_kw": ["Orphanet:2292"], "synonym_eng": ["BOWING OF LONG BONES, ASYMMETRIC AND SYMMETRIC"], "score": 17.249264, "id_kw": "OMIM:211355", "equivalent_iri_eng": ["http://www.orpha.net/ORDO/Orphanet_2292"], "label_kw": ["Congenital bowing of long bones", "Bowing of Long Bones, Asymmetric and Symmetric"], "iri_kw": "http://purl.obolibrary.org/obo/OMIM_211355", "equivalent_iri": ["http://www.orpha.net/ORDO/Orphanet_2292"], "_version_": 1580845550964572160, "category_eng": ["disease"], "iri_std": "http://purl.obolibrary.org/obo/OMIM_211355", "id": "OMIM:211355", "definition": ["Long bone bowing is a congenital condition described by the presence of symmetric or asymmetric angular deformity and shortening of the long bones, particularly the femurs, tibiae and ulnae."], "synonym_kw": ["BOWING OF LONG BONES, ASYMMETRIC AND SYMMETRIC"], "synonym_std": ["BOWING OF LONG BONES, ASYMMETRIC AND SYMMETRIC"], "label": ["Congenital bowing of long bones", "Bowing of Long Bones, Asymmetric and Symmetric"], "definition_eng": ["Long bone bowing is a congenital condition described by the presence of symmetric or asymmetric angular deformity and shortening of the long bones, particularly the femurs, tibiae and ulnae."], "equivalent_curie_std": ["Orphanet:2292"], "category": ["disease"]}, {"synonym": ["kneecap morphology trait"], "leaf": true, "category_std": ["Phenotype"], "id_std": "VT:0005353", "iri": "http://purl.obolibrary.org/obo/VT_0005353", "label_eng": ["patella morphology trait"], "definition_std": ["Any measurable or observable characteristic related to the shape, structure, color, or pattern of the large sesamoid bone that articulates with the femur and, in some species, covers the anterior surface of the knee."], "id_eng": "VT:0005353", "definition_kw": ["Any measurable or observable characteristic related to the shape, structure, color, or pattern of the large sesamoid bone that articulates with the femur and, in some species, covers the anterior surface of the knee."], "category_kw": ["Phenotype"], "iri_eng": "http://purl.obolibrary.org/obo/VT_0005353", "label_std": ["patella morphology trait"], "synonym_eng": ["kneecap morphology trait"], "score": 17.249264, "id_kw": "VT:0005353", "label_kw": ["patella morphology trait"], "iri_kw": "http://purl.obolibrary.org/obo/VT_0005353", "_version_": 1580845607448215553, "category_eng": ["Phenotype"], "iri_std": "http://purl.obolibrary.org/obo/VT_0005353", "id": "VT:0005353", "definition": ["Any measurable or observable characteristic related to the shape, structure, color, or pattern of the large sesamoid bone that articulates with the femur and, in some species, covers the anterior surface of the knee."], "synonym_kw": ["kneecap morphology trait"], "synonym_std": ["kneecap morphology trait"], "label": ["patella morphology trait"], "definition_eng": ["Any measurable or observable characteristic related to the shape, structure, color, or pattern of the large sesamoid bone that articulates with the femur and, in some species, covers the anterior surface of the knee."], "category": ["Phenotype"]}, {"leaf": false, "category_std": ["Phenotype"], "id_std": "VT:0100001", "iri": "http://purl.obolibrary.org/obo/VT_0100001", "label_eng": ["tibia size trait"], "definition_std": ["Any measurable or observable characteristic related to the physical magnitude of the medial and larger of the two bones of the lower leg, which articulates with the femur, fibula, and talus."], "id_eng": "VT:0100001", "definition_kw": ["Any measurable or observable characteristic related to the physical magnitude of the medial and larger of the two bones of the lower leg, which articulates with the femur, fibula, and talus."], "category_kw": ["Phenotype"], "iri_eng": "http://purl.obolibrary.org/obo/VT_0100001", "label_std": ["tibia size trait"], "score": 17.249264, "id_kw": "VT:0100001", "label_kw": ["tibia size trait"], "iri_kw": "http://purl.obolibrary.org/obo/VT_0100001", "_version_": 1580845609058828289, "category_eng": ["Phenotype"], "iri_std": "http://purl.obolibrary.org/obo/VT_0100001", "id": "VT:0100001", "definition": ["Any measurable or observable characteristic related to the physical magnitude of the medial and larger of the two bones of the lower leg, which articulates with the femur, fibula, and talus."], "label": ["tibia size trait"], "definition_eng": ["Any measurable or observable characteristic related to the physical magnitude of the medial and larger of the two bones of the lower leg, which articulates with the femur, fibula, and talus."], "category": ["Phenotype"]}, {"leaf": false, "category_std": ["Phenotype"], "id_std": "HP:0030038", "iri": "http://purl.obolibrary.org/obo/HP_0030038", "label_eng": ["Enchondroma"], "definition_std": ["A solitary, benign, intramedullary cartilage tumor that is often found in the short tubular bones of the hands and feet, distal femur, and proximal humerus."], "id_eng": "HP:0030038", "definition_kw": ["A solitary, benign, intramedullary cartilage tumor that is often found in the short tubular bones of the hands and feet, distal femur, and proximal humerus."], "category_kw": ["Phenotype"], "iri_eng": "http://purl.obolibrary.org/obo/HP_0030038", "label_std": ["Enchondroma"], "score": 17.249264, "id_kw": "HP:0030038", "label_kw": ["Enchondroma"], "iri_kw": "http://purl.obolibrary.org/obo/HP_0030038", "_version_": 1580845609087139843, "category_eng": ["Phenotype"], "iri_std": "http://purl.obolibrary.org/obo/HP_0030038", "id": "HP:0030038", "definition": ["A solitary, benign, intramedullary cartilage tumor that is often found in the short tubular bones of the hands and feet, distal femur, and proximal humerus."], "label": ["Enchondroma"], "definition_eng": ["A solitary, benign, intramedullary cartilage tumor that is often found in the short tubular bones of the hands and feet, distal femur, and proximal humerus."], "category": ["Phenotype"]}, {"leaf": true, "category_std": ["Phenotype"], "id_std": "VT:0003856", "iri": "http://purl.obolibrary.org/obo/VT_0003856", "label_eng": ["hindlimb stylopod morphology trait"], "definition_std": ["Any measurable or observable characteristic related to the shape, structure, color, or pattern of the proximal element of the developing hindlimb that will give rise to the femur."], "id_eng": "VT:0003856", "definition_kw": ["Any measurable or observable characteristic related to the shape, structure, color, or pattern of the proximal element of the developing hindlimb that will give rise to the femur."], "category_kw": ["Phenotype"], "iri_eng": "http://purl.obolibrary.org/obo/VT_0003856", "label_std": ["hindlimb stylopod morphology trait"], "score": 17.249264, "id_kw": "VT:0003856", "label_kw": ["hindlimb stylopod morphology trait"], "iri_kw": "http://purl.obolibrary.org/obo/VT_0003856", "_version_": 1580845604438802433, "category_eng": ["Phenotype"], "iri_std": "http://purl.obolibrary.org/obo/VT_0003856", "id": "VT:0003856", "definition": ["Any measurable or observable characteristic related to the shape, structure, color, or pattern of the proximal element of the developing hindlimb that will give rise to the femur."], "label": ["hindlimb stylopod morphology trait"], "definition_eng": ["Any measurable or observable characteristic related to the shape, structure, color, or pattern of the proximal element of the developing hindlimb that will give rise to the femur."], "category": ["Phenotype"]}, {"leaf": true, "category_std": ["Phenotype"], "id_std": "VT:0004358", "iri": "http://purl.obolibrary.org/obo/VT_0004358", "label_eng": ["tibia curvature trait"], "definition_std": ["Any measurable or observable characteristic related to the degree or shape of the bend in the medial and larger of the two bones of the lower leg, which articulates with the femur, fibula, and talus."], "id_eng": "VT:0004358", "definition_kw": ["Any measurable or observable characteristic related to the degree or shape of the bend in the medial and larger of the two bones of the lower leg, which articulates with the femur, fibula, and talus."], "category_kw": ["Phenotype"], "iri_eng": "http://purl.obolibrary.org/obo/VT_0004358", "label_std": ["tibia curvature trait"], "score": 17.249264, "id_kw": "VT:0004358", "label_kw": ["tibia curvature trait"], "iri_kw": "http://purl.obolibrary.org/obo/VT_0004358", "_version_": 1580845604494376961, "category_eng": ["Phenotype"], "iri_std": "http://purl.obolibrary.org/obo/VT_0004358", "id": "VT:0004358", "definition": ["Any measurable or observable characteristic related to the degree or shape of the bend in the medial and larger of the two bones of the lower leg, which articulates with the femur, fibula, and talus."], "label": ["tibia curvature trait"], "definition_eng": ["Any measurable or observable characteristic related to the degree or shape of the bend in the medial and larger of the two bones of the lower leg, which articulates with the femur, fibula, and talus."], "category": ["Phenotype"]}, {"synonym": ["td"], "leaf": false, "category_std": ["disease"], "id_std": "GeneReviews:NBK1366", "iri": "http://www.ncbi.nlm.nih.gov/books/NBK1366", "label_eng": ["Thanatophoric Dysplasia"], "definition_std": ["Thanatophoric dysplasia (TD) is a short-limb dwarfism syndrome that is usually lethal in the perinatal period. TD is divided into type I, characterized by micromelia with bowed femurs and, uncommonly, the presence of cloverleaf skull deformity (Kleeblattsch??del) of varying severity; and type II, characterized by micromelia with straight femurs and uniform presence of moderate-to-severe cloverleaf skull deformity. Other features common to type I and type II include: short ribs, narrow thorax, macrocephaly, distinctive facial features, brachydactyly, hypotonia, and redundant skin folds along the limbs. Most affected infants die of respiratory insufficiency shortly after birth. Rare long-term survivors have been reported. [GeneReviews:NBK1116, GeneReviews:NBK138602, GeneReviews:NBK1366]"], "id_eng": "GeneReviews:NBK1366", "definition_kw": ["Thanatophoric dysplasia (TD) is a short-limb dwarfism syndrome that is usually lethal in the perinatal period. TD is divided into type I, characterized by micromelia with bowed femurs and, uncommonly, the presence of cloverleaf skull deformity (Kleeblattsch??del) of varying severity; and type II, characterized by micromelia with straight femurs and uniform presence of moderate-to-severe cloverleaf skull deformity. Other features common to type I and type II include: short ribs, narrow thorax, macrocephaly, distinctive facial features, brachydactyly, hypotonia, and redundant skin folds along the limbs. Most affected infants die of respiratory insufficiency shortly after birth. Rare long-term survivors have been reported. [GeneReviews:NBK1116, GeneReviews:NBK138602, GeneReviews:NBK1366]"], "category_kw": ["disease"], "iri_eng": "http://www.ncbi.nlm.nih.gov/books/NBK1366", "label_std": ["Thanatophoric Dysplasia"], "synonym_eng": ["td"], "score": 16.194801, "id_kw": "GeneReviews:NBK1366", "label_kw": ["Thanatophoric Dysplasia"], "iri_kw": "http://www.ncbi.nlm.nih.gov/books/NBK1366", "_version_": 1580845511797112832, "category_eng": ["disease"], "iri_std": "http://www.ncbi.nlm.nih.gov/books/NBK1366", "id": "GeneReviews:NBK1366", "definition": ["Thanatophoric dysplasia (TD) is a short-limb dwarfism syndrome that is usually lethal in the perinatal period. TD is divided into type I, characterized by micromelia with bowed femurs and, uncommonly, the presence of cloverleaf skull deformity (Kleeblattsch??del) of varying severity; and type II, characterized by micromelia with straight femurs and uniform presence of moderate-to-severe cloverleaf skull deformity. Other features common to type I and type II include: short ribs, narrow thorax, macrocephaly, distinctive facial features, brachydactyly, hypotonia, and redundant skin folds along the limbs. Most affected infants die of respiratory insufficiency shortly after birth. Rare long-term survivors have been reported. [GeneReviews:NBK1116, GeneReviews:NBK138602, GeneReviews:NBK1366]"], "synonym_kw": ["td"], "synonym_std": ["td"], "label": ["Thanatophoric Dysplasia"], "definition_eng": ["Thanatophoric dysplasia (TD) is a short-limb dwarfism syndrome that is usually lethal in the perinatal period. TD is divided into type I, characterized by micromelia with bowed femurs and, uncommonly, the presence of cloverleaf skull deformity (Kleeblattsch??del) of varying severity; and type II, characterized by micromelia with straight femurs and uniform presence of moderate-to-severe cloverleaf skull deformity. Other features common to type I and type II include: short ribs, narrow thorax, macrocephaly, distinctive facial features, brachydactyly, hypotonia, and redundant skin folds along the limbs. Most affected infants die of respiratory insufficiency shortly after birth. Rare long-term survivors have been reported. [GeneReviews:NBK1116, GeneReviews:NBK138602, GeneReviews:NBK1366]"], "category": ["disease"]}, {"equivalent_curie_eng": ["_:c67340cb175032c993459b5915489ea4"], "leaf": false, "category_std": ["Phenotype"], "id_std": "MP:0004627", "iri": "http://purl.obolibrary.org/obo/MP_0004627", "equivalent_iri_kw": ["_:c67340cb175032c993459b5915489ea4"], "label_eng": ["abnormal trochanter morphology"], "definition_std": ["any structural anomaly of the bony prominences near the upper extremity of the femur; there are two in human (greater and lesser trochanters) and three in many other mammalian species (greater, lesser and third); these normally serve as attachment points for hip and thigh muscles"], "id_eng": "MP:0004627", "definition_kw": ["any structural anomaly of the bony prominences near the upper extremity of the femur; there are two in human (greater and lesser trochanters) and three in many other mammalian species (greater, lesser and third); these normally serve as attachment points for hip and thigh muscles"], "equivalent_iri_std": ["_:c67340cb175032c993459b5915489ea4"], "category_kw": ["Phenotype"], "iri_eng": "http://purl.obolibrary.org/obo/MP_0004627", "label_std": ["abnormal trochanter morphology"], "equivalent_curie": ["_:c67340cb175032c993459b5915489ea4"], "equivalent_curie_kw": ["_:c67340cb175032c993459b5915489ea4"], "score": 16.10271, "id_kw": "MP:0004627", "equivalent_iri_eng": ["_:c67340cb175032c993459b5915489ea4"], "label_kw": ["abnormal trochanter morphology"], "iri_kw": "http://purl.obolibrary.org/obo/MP_0004627", "equivalent_iri": ["_:c67340cb175032c993459b5915489ea4"], "_version_": 1580845589180973057, "category_eng": ["Phenotype"], "iri_std": "http://purl.obolibrary.org/obo/MP_0004627", "id": "MP:0004627", "definition": ["any structural anomaly of the bony prominences near the upper extremity of the femur; there are two in human (greater and lesser trochanters) and three in many other mammalian species (greater, lesser and third); these normally serve as attachment points for hip and thigh muscles"], "label": ["abnormal trochanter morphology"], "definition_eng": ["any structural anomaly of the bony prominences near the upper extremity of the femur; there are two in human (greater and lesser trochanters) and three in many other mammalian species (greater, lesser and third); these normally serve as attachment points for hip and thigh muscles"], "equivalent_curie_std": ["_:c67340cb175032c993459b5915489ea4"], "category": ["Phenotype"]}, {"synonym": ["Flat acetabular roofs", "Flattened acetabular roof", "Horizontal acetabular roofs", "Horizontal acetabular roof", "Horizontal acetabulae"], "leaf": true, "category_std": ["Phenotype"], "id_std": "HP:0003180", "iri": "http://purl.obolibrary.org/obo/HP_0003180", "label_eng": ["Flat acetabular roof"], "definition_std": ["Flattening of the superior part of the acetabulum, which is a cup-shaped cavity at the base of the hipbone into which the ball-shaped head of the femur fits. The acetabular roof thereby appears horizontal rather than arched, as it normally does."], "id_eng": "HP:0003180", "definition_kw": ["Flattening of the superior part of the acetabulum, which is a cup-shaped cavity at the base of the hipbone into which the ball-shaped head of the femur fits. The acetabular roof thereby appears horizontal rather than arched, as it normally does."], "category_kw": ["Phenotype"], "iri_eng": "http://purl.obolibrary.org/obo/HP_0003180", "label_std": ["Flat acetabular roof"], "synonym_eng": ["Flat acetabular roofs", "Flattened acetabular roof", "Horizontal acetabular roofs", "Horizontal acetabular roof", "Horizontal acetabulae"], "score": 16.10271, "id_kw": "HP:0003180", "label_kw": ["Flat acetabular roof"], "iri_kw": "http://purl.obolibrary.org/obo/HP_0003180", "_version_": 1580845591242473475, "category_eng": ["Phenotype"], "iri_std": "http://purl.obolibrary.org/obo/HP_0003180", "id": "HP:0003180", "definition": ["Flattening of the superior part of the acetabulum, which is a cup-shaped cavity at the base of the hipbone into which the ball-shaped head of the femur fits. The acetabular roof thereby appears horizontal rather than arched, as it normally does."], "synonym_kw": ["Flat acetabular roofs", "Flattened acetabular roof", "Horizontal acetabular roofs", "Horizontal acetabular roof", "Horizontal acetabulae"], "synonym_std": ["Flat acetabular roofs", "Flattened acetabular roof", "Horizontal acetabular roofs", "Horizontal acetabular roof", "Horizontal acetabulae"], "label": ["Flat acetabular roof"], "definition_eng": ["Flattening of the superior part of the acetabulum, which is a cup-shaped cavity at the base of the hipbone into which the ball-shaped head of the femur fits. The acetabular roof thereby appears horizontal rather than arched, as it normally does."], "category": ["Phenotype"]}, {"synonym": ["Slipped end part of innermost thighbone", "Slipped capilal femoral epiphysis", "Slipped capital femoral epiphyses"], "equivalent_curie_eng": ["_:823892aba0b17152f3c76e20263bf321"], "leaf": true, "category_std": ["Phenotype"], "id_std": "HP:0006461", "iri": "http://purl.obolibrary.org/obo/HP_0006461", "equivalent_iri_kw": ["_:823892aba0b17152f3c76e20263bf321"], "label_eng": ["Proximal femoral epiphysiolysis"], "definition_std": ["Slipped capital femoral epiphysis is defined as a posterior and inferior slippage of the proximal epiphysis of the femur onto the metaphysis (femoral neck), occurring through the physeal plate during the early adolescent growth spurt."], "id_eng": "HP:0006461", "definition_kw": ["Slipped capital femoral epiphysis is defined as a posterior and inferior slippage of the proximal epiphysis of the femur onto the metaphysis (femoral neck), occurring through the physeal plate during the early adolescent growth spurt."], "equivalent_iri_std": ["_:823892aba0b17152f3c76e20263bf321"], "category_kw": ["Phenotype"], "iri_eng": "http://purl.obolibrary.org/obo/HP_0006461", "label_std": ["Proximal femoral epiphysiolysis"], "equivalent_curie": ["_:823892aba0b17152f3c76e20263bf321"], "equivalent_curie_kw": ["_:823892aba0b17152f3c76e20263bf321"], "synonym_eng": ["Slipped end part of innermost thighbone", "Slipped capilal femoral epiphysis", "Slipped capital femoral epiphyses"], "score": 16.10271, "id_kw": "HP:0006461", "equivalent_iri_eng": ["_:823892aba0b17152f3c76e20263bf321"], "label_kw": ["Proximal femoral epiphysiolysis"], "iri_kw": "http://purl.obolibrary.org/obo/HP_0006461", "equivalent_iri": ["_:823892aba0b17152f3c76e20263bf321"], "_version_": 1580845592264835074, "category_eng": ["Phenotype"], "iri_std": "http://purl.obolibrary.org/obo/HP_0006461", "id": "HP:0006461", "definition": ["Slipped capital femoral epiphysis is defined as a posterior and inferior slippage of the proximal epiphysis of the femur onto the metaphysis (femoral neck), occurring through the physeal plate during the early adolescent growth spurt."], "synonym_kw": ["Slipped end part of innermost thighbone", "Slipped capilal femoral epiphysis", "Slipped capital femoral epiphyses"], "synonym_std": ["Slipped end part of innermost thighbone", "Slipped capilal femoral epiphysis", "Slipped capital femoral epiphyses"], "label": ["Proximal femoral epiphysiolysis"], "definition_eng": ["Slipped capital femoral epiphysis is defined as a posterior and inferior slippage of the proximal epiphysis of the femur onto the metaphysis (femoral neck), occurring through the physeal plate during the early adolescent growth spurt."], "equivalent_curie_std": ["_:823892aba0b17152f3c76e20263bf321"], "category": ["Phenotype"]}, {"synonym": ["Partial knee cap dislocation", "Subluxation of patella"], "equivalent_curie_eng": ["_:43b77d40ce02698fee5e10c1ffe7b82c"], "leaf": true, "category_std": ["Phenotype"], "id_std": "HP:0010499", "iri": "http://purl.obolibrary.org/obo/HP_0010499", "equivalent_iri_kw": ["_:43b77d40ce02698fee5e10c1ffe7b82c"], "label_eng": ["Patellar subluxation"], "definition_std": ["The kneecap normally is located within the groove termed trochlea on the distal femur and can slide up and down in it. Patellar subluxation refers to an unstable kneecap that does not slide centrally within its groove, i.e., a partial dislocation of the patella."], "id_eng": "HP:0010499", "definition_kw": ["The kneecap normally is located within the groove termed trochlea on the distal femur and can slide up and down in it. Patellar subluxation refers to an unstable kneecap that does not slide centrally within its groove, i.e., a partial dislocation of the patella."], "equivalent_iri_std": ["_:43b77d40ce02698fee5e10c1ffe7b82c"], "category_kw": ["Phenotype"], "iri_eng": "http://purl.obolibrary.org/obo/HP_0010499", "label_std": ["Patellar subluxation"], "equivalent_curie": ["_:43b77d40ce02698fee5e10c1ffe7b82c"], "equivalent_curie_kw": ["_:43b77d40ce02698fee5e10c1ffe7b82c"], "synonym_eng": ["Partial knee cap dislocation", "Subluxation of patella"], "score": 16.10271, "id_kw": "HP:0010499", "equivalent_iri_eng": ["_:43b77d40ce02698fee5e10c1ffe7b82c"], "label_kw": ["Patellar subluxation"], "iri_kw": "http://purl.obolibrary.org/obo/HP_0010499", "equivalent_iri": ["_:43b77d40ce02698fee5e10c1ffe7b82c"], "_version_": 1580845592341381123, "category_eng": ["Phenotype"], "iri_std": "http://purl.obolibrary.org/obo/HP_0010499", "id": "HP:0010499", "definition": ["The kneecap normally is located within the groove termed trochlea on the distal femur and can slide up and down in it. Patellar subluxation refers to an unstable kneecap that does not slide centrally within its groove, i.e., a partial dislocation of the patella."], "synonym_kw": ["Partial knee cap dislocation", "Subluxation of patella"], "synonym_std": ["Partial knee cap dislocation", "Subluxation of patella"], "label": ["Patellar subluxation"], "definition_eng": ["The kneecap normally is located within the groove termed trochlea on the distal femur and can slide up and down in it. Patellar subluxation refers to an unstable kneecap that does not slide centrally within its groove, i.e., a partial dislocation of the patella."], "equivalent_curie_std": ["_:43b77d40ce02698fee5e10c1ffe7b82c"], "category": ["Phenotype"]}, {"synonym": ["Osteogenic sarcoma"], "equivalent_curie_eng": ["_:472d44487dc69ee5bf38f2652d27c067", "_:0692fc5aa1656c77fea78de98ecb9524", "MP:0003789"], "leaf": false, "category_std": ["Phenotype"], "id_std": "HP:0002669", "iri": "http://purl.obolibrary.org/obo/HP_0002669", "equivalent_iri_kw": ["_:472d44487dc69ee5bf38f2652d27c067", "_:0692fc5aa1656c77fea78de98ecb9524", "http://purl.obolibrary.org/obo/MP_0003789"], "label_eng": ["Osteosarcoma"], "definition_std": ["A malignant bone tumor that usually develops during adolescence and usually affects the long bones including the tibia, femur, and humerus. The typical symptoms of osteosarcoma comprise bone pain, fracture, limitation of motion, and tenderness or swelling at the site of the tumor."], "id_eng": "HP:0002669", "definition_kw": ["A malignant bone tumor that usually develops during adolescence and usually affects the long bones including the tibia, femur, and humerus. The typical symptoms of osteosarcoma comprise bone pain, fracture, limitation of motion, and tenderness or swelling at the site of the tumor."], "equivalent_iri_std": ["_:472d44487dc69ee5bf38f2652d27c067", "_:0692fc5aa1656c77fea78de98ecb9524", "http://purl.obolibrary.org/obo/MP_0003789"], "category_kw": ["Phenotype"], "iri_eng": "http://purl.obolibrary.org/obo/HP_0002669", "label_std": ["Osteosarcoma"], "equivalent_curie": ["_:472d44487dc69ee5bf38f2652d27c067", "_:0692fc5aa1656c77fea78de98ecb9524", "MP:0003789"], "equivalent_curie_kw": ["_:472d44487dc69ee5bf38f2652d27c067", "_:0692fc5aa1656c77fea78de98ecb9524", "MP:0003789"], "synonym_eng": ["Osteogenic sarcoma"], "score": 16.10271, "id_kw": "HP:0002669", "equivalent_iri_eng": ["_:472d44487dc69ee5bf38f2652d27c067", "_:0692fc5aa1656c77fea78de98ecb9524", "http://purl.obolibrary.org/obo/MP_0003789"], "label_kw": ["Osteosarcoma"], "iri_kw": "http://purl.obolibrary.org/obo/HP_0002669", "equivalent_iri": ["_:472d44487dc69ee5bf38f2652d27c067", "_:0692fc5aa1656c77fea78de98ecb9524", "http://purl.obolibrary.org/obo/MP_0003789"], "_version_": 1580845593150881793, "category_eng": ["Phenotype"], "iri_std": "http://purl.obolibrary.org/obo/HP_0002669", "id": "HP:0002669", "definition": ["A malignant bone tumor that usually develops during adolescence and usually affects the long bones including the tibia, femur, and humerus. The typical symptoms of osteosarcoma comprise bone pain, fracture, limitation of motion, and tenderness or swelling at the site of the tumor."], "synonym_kw": ["Osteogenic sarcoma"], "synonym_std": ["Osteogenic sarcoma"], "label": ["Osteosarcoma"], "definition_eng": ["A malignant bone tumor that usually develops during adolescence and usually affects the long bones including the tibia, femur, and humerus. The typical symptoms of osteosarcoma comprise bone pain, fracture, limitation of motion, and tenderness or swelling at the site of the tumor."], "equivalent_curie_std": ["_:472d44487dc69ee5bf38f2652d27c067", "_:0692fc5aa1656c77fea78de98ecb9524", "MP:0003789"], "category": ["Phenotype"]}, {"synonym": ["Solitary Osseous Plasmacytoma", "Solitary Plasmacytoma of Bone", "Isolated Osseous Plasmacytoma", "Isolated osseous plasmacytoma", "Solitary plasmacytoma of bone", "Isolated Plasmacytoma of Bone"], "equivalent_curie_eng": ["UMLS:C0272256", "OBO:NCIT_C7812"], "leaf": true, "category_std": ["disease"], "id_std": "DOID:3722", "iri": "http://purl.obolibrary.org/obo/DOID_3722", "equivalent_iri_kw": ["http://purl.obolibrary.org/obo/UMLS_C0272256", "http://purl.obolibrary.org/obo/NCIT_C7812"], "label_eng": ["solitary osseous plasmacytoma"], "definition_std": ["A localized, clonal (malignant) plasma cell infiltrate in the bone, without peripheral blood involvement.  The most commonly affected bones are the vertebrae, ribs, skull, pelvis and femur.  X-rays examination reveals a solitary lytic lesion."], "id_eng": "DOID:3722", "definition_kw": ["A localized, clonal (malignant) plasma cell infiltrate in the bone, without peripheral blood involvement.  The most commonly affected bones are the vertebrae, ribs, skull, pelvis and femur.  X-rays examination reveals a solitary lytic lesion."], "equivalent_iri_std": ["http://purl.obolibrary.org/obo/UMLS_C0272256", "http://purl.obolibrary.org/obo/NCIT_C7812"], "category_kw": ["disease"], "iri_eng": "http://purl.obolibrary.org/obo/DOID_3722", "label_std": ["solitary osseous plasmacytoma"], "equivalent_curie": ["UMLS:C0272256", "OBO:NCIT_C7812"], "equivalent_curie_kw": ["UMLS:C0272256", "OBO:NCIT_C7812"], "synonym_eng": ["Solitary Osseous Plasmacytoma", "Solitary Plasmacytoma of Bone", "Isolated Osseous Plasmacytoma", "Isolated osseous plasmacytoma", "Solitary plasmacytoma of bone", "Isolated Plasmacytoma of Bone"], "score": 16.10271, "id_kw": "DOID:3722", "equivalent_iri_eng": ["http://purl.obolibrary.org/obo/UMLS_C0272256", "http://purl.obolibrary.org/obo/NCIT_C7812"], "label_kw": ["solitary osseous plasmacytoma"], "iri_kw": "http://purl.obolibrary.org/obo/DOID_3722", "equivalent_iri": ["http://purl.obolibrary.org/obo/UMLS_C0272256", "http://purl.obolibrary.org/obo/NCIT_C7812"], "_version_": 1580845598042488832, "category_eng": ["disease"], "iri_std": "http://purl.obolibrary.org/obo/DOID_3722", "id": "DOID:3722", "definition": ["A localized, clonal (malignant) plasma cell infiltrate in the bone, without peripheral blood involvement.  The most commonly affected bones are the vertebrae, ribs, skull, pelvis and femur.  X-rays examination reveals a solitary lytic lesion."], "synonym_kw": ["Solitary Osseous Plasmacytoma", "Solitary Plasmacytoma of Bone", "Isolated Osseous Plasmacytoma", "Isolated osseous plasmacytoma", "Solitary plasmacytoma of bone", "Isolated Plasmacytoma of Bone"], "synonym_std": ["Solitary Osseous Plasmacytoma", "Solitary Plasmacytoma of Bone", "Isolated Osseous Plasmacytoma", "Isolated osseous plasmacytoma", "Solitary plasmacytoma of bone", "Isolated Plasmacytoma of Bone"], "label": ["solitary osseous plasmacytoma"], "definition_eng": ["A localized, clonal (malignant) plasma cell infiltrate in the bone, without peripheral blood involvement.  The most commonly affected bones are the vertebrae, ribs, skull, pelvis and femur.  X-rays examination reveals a solitary lytic lesion."], "equivalent_curie_std": ["UMLS:C0272256", "OBO:NCIT_C7812"], "category": ["disease"]}, {"leaf": true, "category_std": ["Phenotype"], "id_std": "HP:0012427", "iri": "http://purl.obolibrary.org/obo/HP_0012427", "label_eng": ["Excessive femoral anteversion"], "definition_std": ["An increased degree of femoral version, which is defined as the angular difference between axis of femoral neck and transcondylar axis of the knee. Thus, femoral anteversion is an inward twisting of the femur that causes the knees and feet to turn inward."], "id_eng": "HP:0012427", "definition_kw": ["An increased degree of femoral version, which is defined as the angular difference between axis of femoral neck and transcondylar axis of the knee. Thus, femoral anteversion is an inward twisting of the femur that causes the knees and feet to turn inward."], "category_kw": ["Phenotype"], "iri_eng": "http://purl.obolibrary.org/obo/HP_0012427", "label_std": ["Excessive femoral anteversion"], "score": 16.10271, "id_kw": "HP:0012427", "label_kw": ["Excessive femoral anteversion"], "iri_kw": "http://purl.obolibrary.org/obo/HP_0012427", "_version_": 1580845617247158276, "category_eng": ["Phenotype"], "iri_std": "http://purl.obolibrary.org/obo/HP_0012427", "id": "HP:0012427", "definition": ["An increased degree of femoral version, which is defined as the angular difference between axis of femoral neck and transcondylar axis of the knee. Thus, femoral anteversion is an inward twisting of the femur that causes the knees and feet to turn inward."], "label": ["Excessive femoral anteversion"], "definition_eng": ["An increased degree of femoral version, which is defined as the angular difference between axis of femoral neck and transcondylar axis of the knee. Thus, femoral anteversion is an inward twisting of the femur that causes the knees and feet to turn inward."], "category": ["Phenotype"]}, {"synonym": ["Childhood Parosteal Osteogenic Sarcoma", "Childhood Parosteal Osteosarcoma"], "equivalent_curie_eng": ["OBO:NCIT_C6589", "UMLS:C1332994"], "leaf": true, "category_std": ["disease"], "id_std": "DOID:5809", "iri": "http://purl.obolibrary.org/obo/DOID_5809", "equivalent_iri_kw": ["http://purl.obolibrary.org/obo/NCIT_C6589", "http://purl.obolibrary.org/obo/UMLS_C1332994"], "label_eng": ["childhood parosteal osteogenic sarcoma"], "definition_std": ["A low grade malignant bone-forming mesenchymal neoplasm arising from the surface of the bone.  It occurs in childhood and usually affects the distal posterior femur, the proximal tibia, and proximal humerus.  Painless swelling is the usual clinical sign. The prognosis is usually excellent."], "id_eng": "DOID:5809", "definition_kw": ["A low grade malignant bone-forming mesenchymal neoplasm arising from the surface of the bone.  It occurs in childhood and usually affects the distal posterior femur, the proximal tibia, and proximal humerus.  Painless swelling is the usual clinical sign. The prognosis is usually excellent."], "equivalent_iri_std": ["http://purl.obolibrary.org/obo/NCIT_C6589", "http://purl.obolibrary.org/obo/UMLS_C1332994"], "category_kw": ["disease"], "iri_eng": "http://purl.obolibrary.org/obo/DOID_5809", "label_std": ["childhood parosteal osteogenic sarcoma"], "equivalent_curie": ["OBO:NCIT_C6589", "UMLS:C1332994"], "equivalent_curie_kw": ["OBO:NCIT_C6589", "UMLS:C1332994"], "synonym_eng": ["Childhood Parosteal Osteogenic Sarcoma", "Childhood Parosteal Osteosarcoma"], "score": 16.10271, "id_kw": "DOID:5809", "equivalent_iri_eng": ["http://purl.obolibrary.org/obo/NCIT_C6589", "http://purl.obolibrary.org/obo/UMLS_C1332994"], "label_kw": ["childhood parosteal osteogenic sarcoma"], "iri_kw": "http://purl.obolibrary.org/obo/DOID_5809", "equivalent_iri": ["http://purl.obolibrary.org/obo/NCIT_C6589", "http://purl.obolibrary.org/obo/UMLS_C1332994"], "_version_": 1580845602049097731, "category_eng": ["disease"], "iri_std": "http://purl.obolibrary.org/obo/DOID_5809", "id": "DOID:5809", "definition": ["A low grade malignant bone-forming mesenchymal neoplasm arising from the surface of the bone.  It occurs in childhood and usually affects the distal posterior femur, the proximal tibia, and proximal humerus.  Painless swelling is the usual clinical sign. The prognosis is usually excellent."], "synonym_kw": ["Childhood Parosteal Osteogenic Sarcoma", "Childhood Parosteal Osteosarcoma"], "synonym_std": ["Childhood Parosteal Osteogenic Sarcoma", "Childhood Parosteal Osteosarcoma"], "label": ["childhood parosteal osteogenic sarcoma"], "definition_eng": ["A low grade malignant bone-forming mesenchymal neoplasm arising from the surface of the bone.  It occurs in childhood and usually affects the distal posterior femur, the proximal tibia, and proximal humerus.  Painless swelling is the usual clinical sign. The prognosis is usually excellent."], "equivalent_curie_std": ["OBO:NCIT_C6589", "UMLS:C1332994"], "category": ["disease"]}, {"synonym": ["Osteocartilaginous Exostoses", "Exostosis, Cartilaginous", "Osteocartilaginous Exostosis", "Osteochondromas", "Exostoses, Cartilaginous", "Chondrosteomas", "Exostosis, Osteocartilaginous", "Cartilaginous Exostosis", "Exostoses, Osteocartilaginous", "Chondrosteoma", "Cartilaginous Exostoses"], "leaf": false, "category_std": ["disease"], "id_std": "MESH:D015831", "iri": "http://purl.obolibrary.org/obo/MESH_D015831", "label_eng": ["Osteochondroma"], "definition_std": ["A cartilage-capped benign tumor that often appears as a stalk on the surface of bone. It is probably a developmental malformation rather than a true neoplasm and is usually found in the metaphysis of the distal femur, proximal tibia, or proximal humerus. Osteochondroma is the most common of benign bone tumors."], "id_eng": "MESH:D015831", "definition_kw": ["A cartilage-capped benign tumor that often appears as a stalk on the surface of bone. It is probably a developmental malformation rather than a true neoplasm and is usually found in the metaphysis of the distal femur, proximal tibia, or proximal humerus. Osteochondroma is the most common of benign bone tumors."], "category_kw": ["disease"], "iri_eng": "http://purl.obolibrary.org/obo/MESH_D015831", "label_std": ["Osteochondroma"], "synonym_eng": ["Osteocartilaginous Exostoses", "Exostosis, Cartilaginous", "Osteocartilaginous Exostosis", "Osteochondromas", "Exostoses, Cartilaginous", "Chondrosteomas", "Exostosis, Osteocartilaginous", "Cartilaginous Exostosis", "Exostoses, Osteocartilaginous", "Chondrosteoma", "Cartilaginous Exostoses"], "score": 16.10271, "id_kw": "MESH:D015831", "label_kw": ["Osteochondroma"], "iri_kw": "http://purl.obolibrary.org/obo/MESH_D015831", "_version_": 1580845554436407297, "category_eng": ["disease"], "iri_std": "http://purl.obolibrary.org/obo/MESH_D015831", "id": "MESH:D015831", "definition": ["A cartilage-capped benign tumor that often appears as a stalk on the surface of bone. It is probably a developmental malformation rather than a true neoplasm and is usually found in the metaphysis of the distal femur, proximal tibia, or proximal humerus. Osteochondroma is the most common of benign bone tumors."], "synonym_kw": ["Osteocartilaginous Exostoses", "Exostosis, Cartilaginous", "Osteocartilaginous Exostosis", "Osteochondromas", "Exostoses, Cartilaginous", "Chondrosteomas", "Exostosis, Osteocartilaginous", "Cartilaginous Exostosis", "Exostoses, Osteocartilaginous", "Chondrosteoma", "Cartilaginous Exostoses"], "synonym_std": ["Osteocartilaginous Exostoses", "Exostosis, Cartilaginous", "Osteocartilaginous Exostosis", "Osteochondromas", "Exostoses, Cartilaginous", "Chondrosteomas", "Exostosis, Osteocartilaginous", "Cartilaginous Exostosis", "Exostoses, Osteocartilaginous", "Chondrosteoma", "Cartilaginous Exostoses"], "label": ["Osteochondroma"], "definition_eng": ["A cartilage-capped benign tumor that often appears as a stalk on the surface of bone. It is probably a developmental malformation rather than a true neoplasm and is usually found in the metaphysis of the distal femur, proximal tibia, or proximal humerus. Osteochondroma is the most common of benign bone tumors."], "category": ["disease"]}, {"synonym": ["Ischemic Necrosis of Femoral Head", "ANFH", "Femoral Head, Aseptic Necrosis of", "AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 1; ANFH1", "Femoral Head, Avascular Necrosis of", "AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY; ANFH", "Familial osteonecrosis of the femoral head", "ANFH1", "Osteonecrosis of Femoral Head"], "equivalent_curie_eng": ["UMLS:C4275066", "Orphanet:86820"], "leaf": true, "category_std": ["disease"], "id_std": "OMIM:608805", "iri": "http://purl.obolibrary.org/obo/OMIM_608805", "equivalent_iri_kw": ["http://purl.obolibrary.org/obo/UMLS_C4275066", "http://www.orpha.net/ORDO/Orphanet_86820"], "label_eng": ["Avascular necrosis of the head of femur", "Avascular Necrosis of Femoral Head, Primary, 1", "Familial avascular necrosis of femoral head"], "definition_std": ["Avascular necrosis of the femoral head (ANFH) is a debilitating disease that usually leads to destruction of the hip joint in the third to fifth decade of life. The disorder is characterized by progressive pain in the groin, mechanical failure of the subchondral bone, and degeneration of the hip joint. Nearly one-half of patients require hip replacement before 40 years of age. ANFH represents a specific form of the broader disease category of osteonecrosis (summary by {11:Mont and Hungerford, 1995}).\n\n<Subhead> Genetic Heterogeneity of Primary Avascular Necrosis of the Femoral Head\n\nANFH2 is caused by mutation in the TRPV4 gene (OMIM:605427) on chromosome 12q24.\n\nMutation in COL2A1 has also been found in Legg-Calves-Perthes disease (LCPD; OMIM:150600), a form of ANFH in growing children.", "Avascular necrosis of femoral head (ANFH) is a severely disabling disease characterised by progressive groin pain, a limping gait, leg length discrepancy, collapse of the subchondral bone, limitation of hip function and eventual degeneration of the hip joint requiring total hip arthroplasty."], "id_eng": "OMIM:608805", "definition_kw": ["Avascular necrosis of the femoral head (ANFH) is a debilitating disease that usually leads to destruction of the hip joint in the third to fifth decade of life. The disorder is characterized by progressive pain in the groin, mechanical failure of the subchondral bone, and degeneration of the hip joint. Nearly one-half of patients require hip replacement before 40 years of age. ANFH represents a specific form of the broader disease category of osteonecrosis (summary by {11:Mont and Hungerford, 1995}).\n\n<Subhead> Genetic Heterogeneity of Primary Avascular Necrosis of the Femoral Head\n\nANFH2 is caused by mutation in the TRPV4 gene (OMIM:605427) on chromosome 12q24.\n\nMutation in COL2A1 has also been found in Legg-Calves-Perthes disease (LCPD; OMIM:150600), a form of ANFH in growing children.", "Avascular necrosis of femoral head (ANFH) is a severely disabling disease characterised by progressive groin pain, a limping gait, leg length discrepancy, collapse of the subchondral bone, limitation of hip function and eventual degeneration of the hip joint requiring total hip arthroplasty."], "equivalent_iri_std": ["http://purl.obolibrary.org/obo/UMLS_C4275066", "http://www.orpha.net/ORDO/Orphanet_86820"], "category_kw": ["disease"], "iri_eng": "http://purl.obolibrary.org/obo/OMIM_608805", "label_std": ["Avascular necrosis of the head of femur", "Avascular Necrosis of Femoral Head, Primary, 1", "Familial avascular necrosis of femoral head"], "equivalent_curie": ["UMLS:C4275066", "Orphanet:86820"], "equivalent_curie_kw": ["UMLS:C4275066", "Orphanet:86820"], "synonym_eng": ["Ischemic Necrosis of Femoral Head", "ANFH", "Femoral Head, Aseptic Necrosis of", "AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 1; ANFH1", "Femoral Head, Avascular Necrosis of", "AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY; ANFH", "Familial osteonecrosis of the femoral head", "ANFH1", "Osteonecrosis of Femoral Head"], "score": 14.488973, "id_kw": "OMIM:608805", "equivalent_iri_eng": ["http://purl.obolibrary.org/obo/UMLS_C4275066", "http://www.orpha.net/ORDO/Orphanet_86820"], "label_kw": ["Avascular necrosis of the head of femur", "Avascular Necrosis of Femoral Head, Primary, 1", "Familial avascular necrosis of femoral head"], "iri_kw": "http://purl.obolibrary.org/obo/OMIM_608805", "equivalent_iri": ["http://purl.obolibrary.org/obo/UMLS_C4275066", "http://www.orpha.net/ORDO/Orphanet_86820"], "_version_": 1580845545572794368, "category_eng": ["disease"], "iri_std": "http://purl.obolibrary.org/obo/OMIM_608805", "id": "OMIM:608805", "definition": ["Avascular necrosis of the femoral head (ANFH) is a debilitating disease that usually leads to destruction of the hip joint in the third to fifth decade of life. The disorder is characterized by progressive pain in the groin, mechanical failure of the subchondral bone, and degeneration of the hip joint. Nearly one-half of patients require hip replacement before 40 years of age. ANFH represents a specific form of the broader disease category of osteonecrosis (summary by {11:Mont and Hungerford, 1995}).\n\n<Subhead> Genetic Heterogeneity of Primary Avascular Necrosis of the Femoral Head\n\nANFH2 is caused by mutation in the TRPV4 gene (OMIM:605427) on chromosome 12q24.\n\nMutation in COL2A1 has also been found in Legg-Calves-Perthes disease (LCPD; OMIM:150600), a form of ANFH in growing children.", "Avascular necrosis of femoral head (ANFH) is a severely disabling disease characterised by progressive groin pain, a limping gait, leg length discrepancy, collapse of the subchondral bone, limitation of hip function and eventual degeneration of the hip joint requiring total hip arthroplasty."], "synonym_kw": ["Ischemic Necrosis of Femoral Head", "ANFH", "Femoral Head, Aseptic Necrosis of", "AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 1; ANFH1", "Femoral Head, Avascular Necrosis of", "AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY; ANFH", "Familial osteonecrosis of the femoral head", "ANFH1", "Osteonecrosis of Femoral Head"], "synonym_std": ["Ischemic Necrosis of Femoral Head", "ANFH", "Femoral Head, Aseptic Necrosis of", "AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 1; ANFH1", "Femoral Head, Avascular Necrosis of", "AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY; ANFH", "Familial osteonecrosis of the femoral head", "ANFH1", "Osteonecrosis of Femoral Head"], "label": ["Avascular necrosis of the head of femur", "Avascular Necrosis of Femoral Head, Primary, 1", "Familial avascular necrosis of femoral head"], "definition_eng": ["Avascular necrosis of the femoral head (ANFH) is a debilitating disease that usually leads to destruction of the hip joint in the third to fifth decade of life. The disorder is characterized by progressive pain in the groin, mechanical failure of the subchondral bone, and degeneration of the hip joint. Nearly one-half of patients require hip replacement before 40 years of age. ANFH represents a specific form of the broader disease category of osteonecrosis (summary by {11:Mont and Hungerford, 1995}).\n\n<Subhead> Genetic Heterogeneity of Primary Avascular Necrosis of the Femoral Head\n\nANFH2 is caused by mutation in the TRPV4 gene (OMIM:605427) on chromosome 12q24.\n\nMutation in COL2A1 has also been found in Legg-Calves-Perthes disease (LCPD; OMIM:150600), a form of ANFH in growing children.", "Avascular necrosis of femoral head (ANFH) is a severely disabling disease characterised by progressive groin pain, a limping gait, leg length discrepancy, collapse of the subchondral bone, limitation of hip function and eventual degeneration of the hip joint requiring total hip arthroplasty."], "equivalent_curie_std": ["UMLS:C4275066", "Orphanet:86820"], "category": ["disease"]}, {"synonym": ["Smd, Kozlowski Type", "SMDK", "SMD, Kozlowski Type", "SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE; SMDK"], "equivalent_curie_eng": ["Orphanet:93314", "MESH:C535797"], "leaf": true, "category_std": ["disease"], "id_std": "OMIM:184252", "iri": "http://purl.obolibrary.org/obo/OMIM_184252", "equivalent_iri_kw": ["http://www.orpha.net/ORDO/Orphanet_93314", "http://purl.obolibrary.org/obo/MESH_C535797"], "label_eng": ["Spondylometaphyseal dysplasia, Kozlowski type", "Spondylometaphyseal Dysplasia, Kozlowski Type"], "definition_std": ["Spondylometaphyseal dysplasia, Kozlowski type is characterized by short stature (short-trunk dwarfism), scoliosis, metaphyseal abnormalities in the femur (prominent in the femoral neck and trochanteric area), coxa vara and generalized platyspondyly.", "SMD Kozlowski (SMDK) is an autosomal dominant disorder characterized by significant scoliosis and mild metaphyseal abnormalities in the pelvis. The vertebrae exhibit platyspondyly and overfaced pedicles ({4:Krakow et al., 2009})."], "id_eng": "OMIM:184252", "definition_kw": ["Spondylometaphyseal dysplasia, Kozlowski type is characterized by short stature (short-trunk dwarfism), scoliosis, metaphyseal abnormalities in the femur (prominent in the femoral neck and trochanteric area), coxa vara and generalized platyspondyly.", "SMD Kozlowski (SMDK) is an autosomal dominant disorder characterized by significant scoliosis and mild metaphyseal abnormalities in the pelvis. The vertebrae exhibit platyspondyly and overfaced pedicles ({4:Krakow et al., 2009})."], "equivalent_iri_std": ["http://www.orpha.net/ORDO/Orphanet_93314", "http://purl.obolibrary.org/obo/MESH_C535797"], "category_kw": ["disease"], "iri_eng": "http://purl.obolibrary.org/obo/OMIM_184252", "label_std": ["Spondylometaphyseal dysplasia, Kozlowski type", "Spondylometaphyseal Dysplasia, Kozlowski Type"], "equivalent_curie": ["Orphanet:93314", "MESH:C535797"], "equivalent_curie_kw": ["Orphanet:93314", "MESH:C535797"], "synonym_eng": ["Smd, Kozlowski Type", "SMDK", "SMD, Kozlowski Type", "SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE; SMDK"], "score": 14.34713, "id_kw": "OMIM:184252", "equivalent_iri_eng": ["http://www.orpha.net/ORDO/Orphanet_93314", "http://purl.obolibrary.org/obo/MESH_C535797"], "label_kw": ["Spondylometaphyseal dysplasia, Kozlowski type", "Spondylometaphyseal Dysplasia, Kozlowski Type"], "iri_kw": "http://purl.obolibrary.org/obo/OMIM_184252", "equivalent_iri": ["http://www.orpha.net/ORDO/Orphanet_93314", "http://purl.obolibrary.org/obo/MESH_C535797"], "_version_": 1580845512318255104, "category_eng": ["disease"], "iri_std": "http://purl.obolibrary.org/obo/OMIM_184252", "id": "OMIM:184252", "definition": ["Spondylometaphyseal dysplasia, Kozlowski type is characterized by short stature (short-trunk dwarfism), scoliosis, metaphyseal abnormalities in the femur (prominent in the femoral neck and trochanteric area), coxa vara and generalized platyspondyly.", "SMD Kozlowski (SMDK) is an autosomal dominant disorder characterized by significant scoliosis and mild metaphyseal abnormalities in the pelvis. The vertebrae exhibit platyspondyly and overfaced pedicles ({4:Krakow et al., 2009})."], "synonym_kw": ["Smd, Kozlowski Type", "SMDK", "SMD, Kozlowski Type", "SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE; SMDK"], "synonym_std": ["Smd, Kozlowski Type", "SMDK", "SMD, Kozlowski Type", "SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE; SMDK"], "label": ["Spondylometaphyseal dysplasia, Kozlowski type", "Spondylometaphyseal Dysplasia, Kozlowski Type"], "definition_eng": ["Spondylometaphyseal dysplasia, Kozlowski type is characterized by short stature (short-trunk dwarfism), scoliosis, metaphyseal abnormalities in the femur (prominent in the femoral neck and trochanteric area), coxa vara and generalized platyspondyly.", "SMD Kozlowski (SMDK) is an autosomal dominant disorder characterized by significant scoliosis and mild metaphyseal abnormalities in the pelvis. The vertebrae exhibit platyspondyly and overfaced pedicles ({4:Krakow et al., 2009})."], "equivalent_curie_std": ["Orphanet:93314", "MESH:C535797"], "category": ["disease"]}, {"synonym": ["TD", "Dysplasias, Thanatophoric", "Thanatophoric Dwarfism", "Thanatophoric Dysplasias", "Thanatophoric Short Stature", "Dysplasia, Thanatophoric", "Thanatophoric dwarfism", "Thanatophoric Dwarfisms", "Dwarfisms, Thanatophoric", "Dwarfism, Thanatophoric"], "equivalent_curie_eng": ["Orphanet:2655", "UMLS:C1868678", "MESH:D013796"], "leaf": false, "category_std": ["disease"], "id_std": "DOID:13481", "iri": "http://purl.obolibrary.org/obo/DOID_13481", "equivalent_iri_kw": ["http://www.orpha.net/ORDO/Orphanet_2655", "http://purl.obolibrary.org/obo/UMLS_C1868678", "http://purl.obolibrary.org/obo/MESH_D013796"], "label_eng": ["thanatophoric dysplasia"], "definition_std": ["Thanatophoric dysplasia (TD) is a severe and generally lethal skeletal dysplasia presenting in the prenatal period and characterized by micromelia, macrocephaly, narrow thorax, and distinctive facial features. It includes TD, type 1 (TD1) and TD, type 2 (TD2) (see these terms), that can be differentiated from each other by femur and skull shape."], "id_eng": "DOID:13481", "definition_kw": ["Thanatophoric dysplasia (TD) is a severe and generally lethal skeletal dysplasia presenting in the prenatal period and characterized by micromelia, macrocephaly, narrow thorax, and distinctive facial features. It includes TD, type 1 (TD1) and TD, type 2 (TD2) (see these terms), that can be differentiated from each other by femur and skull shape."], "equivalent_iri_std": ["http://www.orpha.net/ORDO/Orphanet_2655", "http://purl.obolibrary.org/obo/UMLS_C1868678", "http://purl.obolibrary.org/obo/MESH_D013796"], "category_kw": ["disease"], "iri_eng": "http://purl.obolibrary.org/obo/DOID_13481", "label_std": ["thanatophoric dysplasia"], "equivalent_curie": ["Orphanet:2655", "UMLS:C1868678", "MESH:D013796"], "equivalent_curie_kw": ["Orphanet:2655", "UMLS:C1868678", "MESH:D013796"], "synonym_eng": ["TD", "Dysplasias, Thanatophoric", "Thanatophoric Dwarfism", "Thanatophoric Dysplasias", "Thanatophoric Short Stature", "Dysplasia, Thanatophoric", "Thanatophoric dwarfism", "Thanatophoric Dwarfisms", "Dwarfisms, Thanatophoric", "Dwarfism, Thanatophoric"], "score": 14.34713, "id_kw": "DOID:13481", "equivalent_iri_eng": ["http://www.orpha.net/ORDO/Orphanet_2655", "http://purl.obolibrary.org/obo/UMLS_C1868678", "http://purl.obolibrary.org/obo/MESH_D013796"], "label_kw": ["thanatophoric dysplasia"], "iri_kw": "http://purl.obolibrary.org/obo/DOID_13481", "equivalent_iri": ["http://www.orpha.net/ORDO/Orphanet_2655", "http://purl.obolibrary.org/obo/UMLS_C1868678", "http://purl.obolibrary.org/obo/MESH_D013796"], "_version_": 1580845593504251904, "category_eng": ["disease"], "iri_std": "http://purl.obolibrary.org/obo/DOID_13481", "id": "DOID:13481", "definition": ["Thanatophoric dysplasia (TD) is a severe and generally lethal skeletal dysplasia presenting in the prenatal period and characterized by micromelia, macrocephaly, narrow thorax, and distinctive facial features. It includes TD, type 1 (TD1) and TD, type 2 (TD2) (see these terms), that can be differentiated from each other by femur and skull shape."], "synonym_kw": ["TD", "Dysplasias, Thanatophoric", "Thanatophoric Dwarfism", "Thanatophoric Dysplasias", "Thanatophoric Short Stature", "Dysplasia, Thanatophoric", "Thanatophoric dwarfism", "Thanatophoric Dwarfisms", "Dwarfisms, Thanatophoric", "Dwarfism, Thanatophoric"], "synonym_std": ["TD", "Dysplasias, Thanatophoric", "Thanatophoric Dwarfism", "Thanatophoric Dysplasias", "Thanatophoric Short Stature", "Dysplasia, Thanatophoric", "Thanatophoric dwarfism", "Thanatophoric Dwarfisms", "Dwarfisms, Thanatophoric", "Dwarfism, Thanatophoric"], "label": ["thanatophoric dysplasia"], "definition_eng": ["Thanatophoric dysplasia (TD) is a severe and generally lethal skeletal dysplasia presenting in the prenatal period and characterized by micromelia, macrocephaly, narrow thorax, and distinctive facial features. It includes TD, type 1 (TD1) and TD, type 2 (TD2) (see these terms), that can be differentiated from each other by femur and skull shape."], "equivalent_curie_std": ["Orphanet:2655", "UMLS:C1868678", "MESH:D013796"], "category": ["disease"]}, {"synonym": ["Chondrosarcoma", "chondrosarcoma", "CHONDROSARCOMA, MALIGNANT", "Chondrosarcomas", "primary chondrosarcoma of the bone", "chondrosarcoma of bone"], "equivalent_curie_eng": ["OBO:NCIT_C2946", "MPATH:392", "Orphanet:55880", "MESH:D002813"], "leaf": false, "category_std": ["disease"], "id_std": "DOID:3371", "iri": "http://purl.obolibrary.org/obo/DOID_3371", "equivalent_iri_kw": ["http://purl.obolibrary.org/obo/NCIT_C2946", "http://purl.obolibrary.org/obo/MPATH_392", "http://www.orpha.net/ORDO/Orphanet_55880", "http://purl.obolibrary.org/obo/MESH_D002813"], "label_eng": ["chondrosarcoma"], "definition_std": ["Chondrosarcoma is a malignant bone tumor arising from cartilaginous tissue, most frequently occuring at the ends of the femur and tibia, the proximal end of the humerus and the pelvis; and presenting with a palpable mass and progressive pain. Chondrosarcoma is usually slow growing at low histological grades and can be well managed by intralesional curettage or en-block wide resection."], "id_eng": "DOID:3371", "definition_kw": ["Chondrosarcoma is a malignant bone tumor arising from cartilaginous tissue, most frequently occuring at the ends of the femur and tibia, the proximal end of the humerus and the pelvis; and presenting with a palpable mass and progressive pain. Chondrosarcoma is usually slow growing at low histological grades and can be well managed by intralesional curettage or en-block wide resection."], "equivalent_iri_std": ["http://purl.obolibrary.org/obo/NCIT_C2946", "http://purl.obolibrary.org/obo/MPATH_392", "http://www.orpha.net/ORDO/Orphanet_55880", "http://purl.obolibrary.org/obo/MESH_D002813"], "category_kw": ["disease"], "iri_eng": "http://purl.obolibrary.org/obo/DOID_3371", "label_std": ["chondrosarcoma"], "equivalent_curie": ["OBO:NCIT_C2946", "MPATH:392", "Orphanet:55880", "MESH:D002813"], "equivalent_curie_kw": ["OBO:NCIT_C2946", "MPATH:392", "Orphanet:55880", "MESH:D002813"], "synonym_eng": ["Chondrosarcoma", "chondrosarcoma", "CHONDROSARCOMA, MALIGNANT", "Chondrosarcomas", "primary chondrosarcoma of the bone", "chondrosarcoma of bone"], "score": 14.34713, "id_kw": "DOID:3371", "equivalent_iri_eng": ["http://purl.obolibrary.org/obo/NCIT_C2946", "http://purl.obolibrary.org/obo/MPATH_392", "http://www.orpha.net/ORDO/Orphanet_55880", "http://purl.obolibrary.org/obo/MESH_D002813"], "label_kw": ["chondrosarcoma"], "iri_kw": "http://purl.obolibrary.org/obo/DOID_3371", "equivalent_iri": ["http://purl.obolibrary.org/obo/NCIT_C2946", "http://purl.obolibrary.org/obo/MPATH_392", "http://www.orpha.net/ORDO/Orphanet_55880", "http://purl.obolibrary.org/obo/MESH_D002813"], "_version_": 1580845593530466304, "category_eng": ["disease"], "iri_std": "http://purl.obolibrary.org/obo/DOID_3371", "id": "DOID:3371", "definition": ["Chondrosarcoma is a malignant bone tumor arising from cartilaginous tissue, most frequently occuring at the ends of the femur and tibia, the proximal end of the humerus and the pelvis; and presenting with a palpable mass and progressive pain. Chondrosarcoma is usually slow growing at low histological grades and can be well managed by intralesional curettage or en-block wide resection."], "synonym_kw": ["Chondrosarcoma", "chondrosarcoma", "CHONDROSARCOMA, MALIGNANT", "Chondrosarcomas", "primary chondrosarcoma of the bone", "chondrosarcoma of bone"], "synonym_std": ["Chondrosarcoma", "chondrosarcoma", "CHONDROSARCOMA, MALIGNANT", "Chondrosarcomas", "primary chondrosarcoma of the bone", "chondrosarcoma of bone"], "label": ["chondrosarcoma"], "definition_eng": ["Chondrosarcoma is a malignant bone tumor arising from cartilaginous tissue, most frequently occuring at the ends of the femur and tibia, the proximal end of the humerus and the pelvis; and presenting with a palpable mass and progressive pain. Chondrosarcoma is usually slow growing at low histological grades and can be well managed by intralesional curettage or en-block wide resection."], "equivalent_curie_std": ["OBO:NCIT_C2946", "MPATH:392", "Orphanet:55880", "MESH:D002813"], "category": ["disease"]}, {"synonym": ["Juxtacortical Osteogenic Sarcoma", "Parosteal Osteogenic sarcoma", "Osteosarcomas, Juxtacortical", "Juxtacortical Osteosarcoma", "Juxtacortical Osteosarcomas", "Parosteal Osteosarcoma", "Parosteal Osteogenic Sarcoma"], "equivalent_curie_eng": ["UMLS:C0206642", "MESH:D018217", "OBO:NCIT_C8969"], "leaf": false, "category_std": ["disease"], "id_std": "DOID:3373", "iri": "http://purl.obolibrary.org/obo/DOID_3373", "equivalent_iri_kw": ["http://purl.obolibrary.org/obo/UMLS_C0206642", "http://purl.obolibrary.org/obo/MESH_D018217", "http://purl.obolibrary.org/obo/NCIT_C8969"], "label_eng": ["juxtacortical osteosarcoma"], "definition_std": ["A low grade malignant bone-forming mesenchymal neoplasm arising from the surface of the bone. It usually affects the distal posterior femur, the proximal tibia, and proximal humerus. Painless swelling is the usual clinical sign. Most patients are young adults and the prognosis is usually excellent."], "id_eng": "DOID:3373", "definition_kw": ["A low grade malignant bone-forming mesenchymal neoplasm arising from the surface of the bone. It usually affects the distal posterior femur, the proximal tibia, and proximal humerus. Painless swelling is the usual clinical sign. Most patients are young adults and the prognosis is usually excellent."], "equivalent_iri_std": ["http://purl.obolibrary.org/obo/UMLS_C0206642", "http://purl.obolibrary.org/obo/MESH_D018217", "http://purl.obolibrary.org/obo/NCIT_C8969"], "category_kw": ["disease"], "iri_eng": "http://purl.obolibrary.org/obo/DOID_3373", "label_std": ["juxtacortical osteosarcoma"], "equivalent_curie": ["UMLS:C0206642", "MESH:D018217", "OBO:NCIT_C8969"], "equivalent_curie_kw": ["UMLS:C0206642", "MESH:D018217", "OBO:NCIT_C8969"], "synonym_eng": ["Juxtacortical Osteogenic Sarcoma", "Parosteal Osteogenic sarcoma", "Osteosarcomas, Juxtacortical", "Juxtacortical Osteosarcoma", "Juxtacortical Osteosarcomas", "Parosteal Osteosarcoma", "Parosteal Osteogenic Sarcoma"], "score": 14.34713, "id_kw": "DOID:3373", "equivalent_iri_eng": ["http://purl.obolibrary.org/obo/UMLS_C0206642", "http://purl.obolibrary.org/obo/MESH_D018217", "http://purl.obolibrary.org/obo/NCIT_C8969"], "label_kw": ["juxtacortical osteosarcoma"], "iri_kw": "http://purl.obolibrary.org/obo/DOID_3373", "equivalent_iri": ["http://purl.obolibrary.org/obo/UMLS_C0206642", "http://purl.obolibrary.org/obo/MESH_D018217", "http://purl.obolibrary.org/obo/NCIT_C8969"], "_version_": 1580845594533953536, "category_eng": ["disease"], "iri_std": "http://purl.obolibrary.org/obo/DOID_3373", "id": "DOID:3373", "definition": ["A low grade malignant bone-forming mesenchymal neoplasm arising from the surface of the bone. It usually affects the distal posterior femur, the proximal tibia, and proximal humerus. Painless swelling is the usual clinical sign. Most patients are young adults and the prognosis is usually excellent."], "synonym_kw": ["Juxtacortical Osteogenic Sarcoma", "Parosteal Osteogenic sarcoma", "Osteosarcomas, Juxtacortical", "Juxtacortical Osteosarcoma", "Juxtacortical Osteosarcomas", "Parosteal Osteosarcoma", "Parosteal Osteogenic Sarcoma"], "synonym_std": ["Juxtacortical Osteogenic Sarcoma", "Parosteal Osteogenic sarcoma", "Osteosarcomas, Juxtacortical", "Juxtacortical Osteosarcoma", "Juxtacortical Osteosarcomas", "Parosteal Osteosarcoma", "Parosteal Osteogenic Sarcoma"], "label": ["juxtacortical osteosarcoma"], "definition_eng": ["A low grade malignant bone-forming mesenchymal neoplasm arising from the surface of the bone. It usually affects the distal posterior femur, the proximal tibia, and proximal humerus. Painless swelling is the usual clinical sign. Most patients are young adults and the prognosis is usually excellent."], "equivalent_curie_std": ["UMLS:C0206642", "MESH:D018217", "OBO:NCIT_C8969"], "category": ["disease"]}, {"synonym": ["DDH2", "DEVELOPMENTAL DYSPLASIA OF THE HIP 2; DDH2"], "equivalent_curie_eng": ["UMLS:C3715079"], "leaf": true, "category_std": ["disease"], "id_std": "OMIM:615612", "iri": "http://purl.obolibrary.org/obo/OMIM_615612", "equivalent_iri_kw": ["http://purl.obolibrary.org/obo/UMLS_C3715079"], "label_eng": ["DDH2"], "definition_std": ["Developmental dysplasia of the hip (DDH) is a debilitating condition characterized by incomplete formation of the acetabulum leading to dislocation of the femur, suboptimal joint function, and accelerated wear of the articular cartilage, resulting in arthritis. Undetected hip dysplasia is the leading cause of osteoarthritis of the hip in young individuals, causing over 40% of cases in that age group (summary by {1:Feldman et al., 2013}).\n\nFor discussion of genetic heterogeneity of developmental dysplasia of the hip, see DDH1 (OMIM:142700).", "See http://www.omim.org/entry/615612"], "id_eng": "OMIM:615612", "definition_kw": ["Developmental dysplasia of the hip (DDH) is a debilitating condition characterized by incomplete formation of the acetabulum leading to dislocation of the femur, suboptimal joint function, and accelerated wear of the articular cartilage, resulting in arthritis. Undetected hip dysplasia is the leading cause of osteoarthritis of the hip in young individuals, causing over 40% of cases in that age group (summary by {1:Feldman et al., 2013}).\n\nFor discussion of genetic heterogeneity of developmental dysplasia of the hip, see DDH1 (OMIM:142700).", "See http://www.omim.org/entry/615612"], "equivalent_iri_std": ["http://purl.obolibrary.org/obo/UMLS_C3715079"], "category_kw": ["disease"], "iri_eng": "http://purl.obolibrary.org/obo/OMIM_615612", "label_std": ["DDH2"], "equivalent_curie": ["UMLS:C3715079"], "equivalent_curie_kw": ["UMLS:C3715079"], "synonym_eng": ["DDH2", "DEVELOPMENTAL DYSPLASIA OF THE HIP 2; DDH2"], "score": 14.34713, "id_kw": "OMIM:615612", "equivalent_iri_eng": ["http://purl.obolibrary.org/obo/UMLS_C3715079"], "label_kw": ["DDH2"], "iri_kw": "http://purl.obolibrary.org/obo/OMIM_615612", "equivalent_iri": ["http://purl.obolibrary.org/obo/UMLS_C3715079"], "_version_": 1580845549056163840, "category_eng": ["disease"], "iri_std": "http://purl.obolibrary.org/obo/OMIM_615612", "id": "OMIM:615612", "definition": ["Developmental dysplasia of the hip (DDH) is a debilitating condition characterized by incomplete formation of the acetabulum leading to dislocation of the femur, suboptimal joint function, and accelerated wear of the articular cartilage, resulting in arthritis. Undetected hip dysplasia is the leading cause of osteoarthritis of the hip in young individuals, causing over 40% of cases in that age group (summary by {1:Feldman et al., 2013}).\n\nFor discussion of genetic heterogeneity of developmental dysplasia of the hip, see DDH1 (OMIM:142700).", "See http://www.omim.org/entry/615612"], "synonym_kw": ["DDH2", "DEVELOPMENTAL DYSPLASIA OF THE HIP 2; DDH2"], "synonym_std": ["DDH2", "DEVELOPMENTAL DYSPLASIA OF THE HIP 2; DDH2"], "label": ["DDH2"], "definition_eng": ["Developmental dysplasia of the hip (DDH) is a debilitating condition characterized by incomplete formation of the acetabulum leading to dislocation of the femur, suboptimal joint function, and accelerated wear of the articular cartilage, resulting in arthritis. Undetected hip dysplasia is the leading cause of osteoarthritis of the hip in young individuals, causing over 40% of cases in that age group (summary by {1:Feldman et al., 2013}).\n\nFor discussion of genetic heterogeneity of developmental dysplasia of the hip, see DDH1 (OMIM:142700).", "See http://www.omim.org/entry/615612"], "equivalent_curie_std": ["UMLS:C3715079"], "category": ["disease"]}, {"synonym": ["Rajab-Spranger syndrome", "LIPODYSTROPHY, GENERALIZED, WITH MENTAL RETARDATION, DEAFNESS, SHORT STATURE, AND SLENDER BONES"], "equivalent_curie_eng": ["UMLS:C1842465", "Orphanet:50811", "MESH:C564283"], "leaf": true, "category_std": ["disease"], "id_std": "OMIM:608154", "iri": "http://purl.obolibrary.org/obo/OMIM_608154", "equivalent_iri_kw": ["http://purl.obolibrary.org/obo/UMLS_C1842465", "http://www.orpha.net/ORDO/Orphanet_50811", "http://purl.obolibrary.org/obo/MESH_C564283"], "label_eng": ["Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, and Slender Bones", "Lipodystrophy-intellectual disability-deafness syndrome"], "definition_std": ["Lipodystrophy-intellectual disability-deafness syndrome is an extremely rare form of genetic lipodystrophy (see this term), reported in 3 patients from one family to date, characterized by generalized congenital lipodystrophy, low birth weight, progressive sensorineural deafness occurring in childhood, intellectual deficit, progressive osteopenia, delayed skeletal maturation, skeletal abnormalities described as slender, undermineralized tubular bones, and dense metaphyseal striations in the distal femur, ulna and radius of older patients. Autosomal recessive inheritance has been suggested."], "id_eng": "OMIM:608154", "definition_kw": ["Lipodystrophy-intellectual disability-deafness syndrome is an extremely rare form of genetic lipodystrophy (see this term), reported in 3 patients from one family to date, characterized by generalized congenital lipodystrophy, low birth weight, progressive sensorineural deafness occurring in childhood, intellectual deficit, progressive osteopenia, delayed skeletal maturation, skeletal abnormalities described as slender, undermineralized tubular bones, and dense metaphyseal striations in the distal femur, ulna and radius of older patients. Autosomal recessive inheritance has been suggested."], "equivalent_iri_std": ["http://purl.obolibrary.org/obo/UMLS_C1842465", "http://www.orpha.net/ORDO/Orphanet_50811", "http://purl.obolibrary.org/obo/MESH_C564283"], "category_kw": ["disease"], "iri_eng": "http://purl.obolibrary.org/obo/OMIM_608154", "label_std": ["Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, and Slender Bones", "Lipodystrophy-intellectual disability-deafness syndrome"], "equivalent_curie": ["UMLS:C1842465", "Orphanet:50811", "MESH:C564283"], "equivalent_curie_kw": ["UMLS:C1842465", "Orphanet:50811", "MESH:C564283"], "synonym_eng": ["Rajab-Spranger syndrome", "LIPODYSTROPHY, GENERALIZED, WITH MENTAL RETARDATION, DEAFNESS, SHORT STATURE, AND SLENDER BONES"], "score": 14.34713, "id_kw": "OMIM:608154", "equivalent_iri_eng": ["http://purl.obolibrary.org/obo/UMLS_C1842465", "http://www.orpha.net/ORDO/Orphanet_50811", "http://purl.obolibrary.org/obo/MESH_C564283"], "label_kw": ["Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, and Slender Bones", "Lipodystrophy-intellectual disability-deafness syndrome"], "iri_kw": "http://purl.obolibrary.org/obo/OMIM_608154", "equivalent_iri": ["http://purl.obolibrary.org/obo/UMLS_C1842465", "http://www.orpha.net/ORDO/Orphanet_50811", "http://purl.obolibrary.org/obo/MESH_C564283"], "_version_": 1580845550006173697, "category_eng": ["disease"], "iri_std": "http://purl.obolibrary.org/obo/OMIM_608154", "id": "OMIM:608154", "definition": ["Lipodystrophy-intellectual disability-deafness syndrome is an extremely rare form of genetic lipodystrophy (see this term), reported in 3 patients from one family to date, characterized by generalized congenital lipodystrophy, low birth weight, progressive sensorineural deafness occurring in childhood, intellectual deficit, progressive osteopenia, delayed skeletal maturation, skeletal abnormalities described as slender, undermineralized tubular bones, and dense metaphyseal striations in the distal femur, ulna and radius of older patients. Autosomal recessive inheritance has been suggested."], "synonym_kw": ["Rajab-Spranger syndrome", "LIPODYSTROPHY, GENERALIZED, WITH MENTAL RETARDATION, DEAFNESS, SHORT STATURE, AND SLENDER BONES"], "synonym_std": ["Rajab-Spranger syndrome", "LIPODYSTROPHY, GENERALIZED, WITH MENTAL RETARDATION, DEAFNESS, SHORT STATURE, AND SLENDER BONES"], "label": ["Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, and Slender Bones", "Lipodystrophy-intellectual disability-deafness syndrome"], "definition_eng": ["Lipodystrophy-intellectual disability-deafness syndrome is an extremely rare form of genetic lipodystrophy (see this term), reported in 3 patients from one family to date, characterized by generalized congenital lipodystrophy, low birth weight, progressive sensorineural deafness occurring in childhood, intellectual deficit, progressive osteopenia, delayed skeletal maturation, skeletal abnormalities described as slender, undermineralized tubular bones, and dense metaphyseal striations in the distal femur, ulna and radius of older patients. Autosomal recessive inheritance has been suggested."], "equivalent_curie_std": ["UMLS:C1842465", "Orphanet:50811", "MESH:C564283"], "category": ["disease"]}, {"synonym": ["COPPER DEFICIENCY, FAMILIAL BENIGN", "Familial benign hypocupremia", "Familial benign copper deficiency"], "equivalent_curie_eng": ["Orphanet:1551", "UMLS:C1852576", "MESH:C535468"], "leaf": true, "category_std": ["disease"], "id_std": "OMIM:121270", "iri": "http://purl.obolibrary.org/obo/OMIM_121270", "equivalent_iri_kw": ["http://www.orpha.net/ORDO/Orphanet_1551", "http://purl.obolibrary.org/obo/UMLS_C1852576", "http://purl.obolibrary.org/obo/MESH_C535468"], "label_eng": ["Copper Deficiency, Familial Benign", "Familial benign copper deficiency"], "definition_std": ["Familial benign copper deficiency is a rare disorder of mineral absorption and transport characterized by hypocupremia that manifests as failure to thrive, mild anemia, repeated seizures, hypotonia, and seborrheic skin. Spurring of the femur and tibia are also noted on radiographic imaging. Symptoms are reversible or improve with supplements of oral copper. There have been no further descriptions in the literature since 1982."], "id_eng": "OMIM:121270", "definition_kw": ["Familial benign copper deficiency is a rare disorder of mineral absorption and transport characterized by hypocupremia that manifests as failure to thrive, mild anemia, repeated seizures, hypotonia, and seborrheic skin. Spurring of the femur and tibia are also noted on radiographic imaging. Symptoms are reversible or improve with supplements of oral copper. There have been no further descriptions in the literature since 1982."], "equivalent_iri_std": ["http://www.orpha.net/ORDO/Orphanet_1551", "http://purl.obolibrary.org/obo/UMLS_C1852576", "http://purl.obolibrary.org/obo/MESH_C535468"], "category_kw": ["disease"], "iri_eng": "http://purl.obolibrary.org/obo/OMIM_121270", "label_std": ["Copper Deficiency, Familial Benign", "Familial benign copper deficiency"], "equivalent_curie": ["Orphanet:1551", "UMLS:C1852576", "MESH:C535468"], "equivalent_curie_kw": ["Orphanet:1551", "UMLS:C1852576", "MESH:C535468"], "synonym_eng": ["COPPER DEFICIENCY, FAMILIAL BENIGN", "Familial benign hypocupremia", "Familial benign copper deficiency"], "score": 14.34713, "id_kw": "OMIM:121270", "equivalent_iri_eng": ["http://www.orpha.net/ORDO/Orphanet_1551", "http://purl.obolibrary.org/obo/UMLS_C1852576", "http://purl.obolibrary.org/obo/MESH_C535468"], "label_kw": ["Copper Deficiency, Familial Benign", "Familial benign copper deficiency"], "iri_kw": "http://purl.obolibrary.org/obo/OMIM_121270", "equivalent_iri": ["http://www.orpha.net/ORDO/Orphanet_1551", "http://purl.obolibrary.org/obo/UMLS_C1852576", "http://purl.obolibrary.org/obo/MESH_C535468"], "_version_": 1580845550547238912, "category_eng": ["disease"], "iri_std": "http://purl.obolibrary.org/obo/OMIM_121270", "id": "OMIM:121270", "definition": ["Familial benign copper deficiency is a rare disorder of mineral absorption and transport characterized by hypocupremia that manifests as failure to thrive, mild anemia, repeated seizures, hypotonia, and seborrheic skin. Spurring of the femur and tibia are also noted on radiographic imaging. Symptoms are reversible or improve with supplements of oral copper. There have been no further descriptions in the literature since 1982."], "synonym_kw": ["COPPER DEFICIENCY, FAMILIAL BENIGN", "Familial benign hypocupremia", "Familial benign copper deficiency"], "synonym_std": ["COPPER DEFICIENCY, FAMILIAL BENIGN", "Familial benign hypocupremia", "Familial benign copper deficiency"], "label": ["Copper Deficiency, Familial Benign", "Familial benign copper deficiency"], "definition_eng": ["Familial benign copper deficiency is a rare disorder of mineral absorption and transport characterized by hypocupremia that manifests as failure to thrive, mild anemia, repeated seizures, hypotonia, and seborrheic skin. Spurring of the femur and tibia are also noted on radiographic imaging. Symptoms are reversible or improve with supplements of oral copper. There have been no further descriptions in the literature since 1982."], "equivalent_curie_std": ["Orphanet:1551", "UMLS:C1852576", "MESH:C535468"], "category": ["disease"]}, {"equivalent_curie_eng": ["UMLS:CN206604"], "leaf": true, "category_std": ["disease"], "id_std": "Orphanet:93398", "iri": "http://www.orpha.net/ORDO/Orphanet_93398", "equivalent_iri_kw": ["http://purl.obolibrary.org/obo/UMLS_CN206604"], "label_eng": ["Genochondromatosis type 2"], "definition_std": ["Genochondromatosis type 2 is a rare genetic bone development disorder characterized by normal clavicles and symmetrical generalized metaphyseal enchondromas particularly in the distal femur, proximal humerus, and bones of the wrists, hands, and feet. Lesions regress later in life with growth cartilage obliteration. Clinical examination is normal and the course of the disease is benign."], "id_eng": "Orphanet:93398", "definition_kw": ["Genochondromatosis type 2 is a rare genetic bone development disorder characterized by normal clavicles and symmetrical generalized metaphyseal enchondromas particularly in the distal femur, proximal humerus, and bones of the wrists, hands, and feet. Lesions regress later in life with growth cartilage obliteration. Clinical examination is normal and the course of the disease is benign."], "equivalent_iri_std": ["http://purl.obolibrary.org/obo/UMLS_CN206604"], "category_kw": ["disease"], "iri_eng": "http://www.orpha.net/ORDO/Orphanet_93398", "label_std": ["Genochondromatosis type 2"], "equivalent_curie": ["UMLS:CN206604"], "equivalent_curie_kw": ["UMLS:CN206604"], "score": 14.34713, "id_kw": "Orphanet:93398", "equivalent_iri_eng": ["http://purl.obolibrary.org/obo/UMLS_CN206604"], "label_kw": ["Genochondromatosis type 2"], "iri_kw": "http://www.orpha.net/ORDO/Orphanet_93398", "equivalent_iri": ["http://purl.obolibrary.org/obo/UMLS_CN206604"], "_version_": 1580845550959329282, "category_eng": ["disease"], "iri_std": "http://www.orpha.net/ORDO/Orphanet_93398", "id": "Orphanet:93398", "definition": ["Genochondromatosis type 2 is a rare genetic bone development disorder characterized by normal clavicles and symmetrical generalized metaphyseal enchondromas particularly in the distal femur, proximal humerus, and bones of the wrists, hands, and feet. Lesions regress later in life with growth cartilage obliteration. Clinical examination is normal and the course of the disease is benign."], "label": ["Genochondromatosis type 2"], "definition_eng": ["Genochondromatosis type 2 is a rare genetic bone development disorder characterized by normal clavicles and symmetrical generalized metaphyseal enchondromas particularly in the distal femur, proximal humerus, and bones of the wrists, hands, and feet. Lesions regress later in life with growth cartilage obliteration. Clinical examination is normal and the course of the disease is benign."], "equivalent_curie_std": ["UMLS:CN206604"], "category": ["disease"]}, {"leaf": true, "category_std": ["Phenotype"], "id_std": "HP:0031068", "iri": "http://purl.obolibrary.org/obo/HP_0031068", "label_eng": ["Increased femoral torsion"], "definition_std": ["Femoral torsion, also known as femoral rotation or femoral version, refers to the twist between the proximal and distal parts of the femur on the transverse plane. Femoral anteversion averages between 30-40 degress at birth, and between 8-14 degrees in adults. This term applies if the amount of femoral torsion exceeds this range."], "id_eng": "HP:0031068", "definition_kw": ["Femoral torsion, also known as femoral rotation or femoral version, refers to the twist between the proximal and distal parts of the femur on the transverse plane. Femoral anteversion averages between 30-40 degress at birth, and between 8-14 degrees in adults. This term applies if the amount of femoral torsion exceeds this range."], "category_kw": ["Phenotype"], "iri_eng": "http://purl.obolibrary.org/obo/HP_0031068", "label_std": ["Increased femoral torsion"], "score": 14.34713, "id_kw": "HP:0031068", "label_kw": ["Increased femoral torsion"], "iri_kw": "http://purl.obolibrary.org/obo/HP_0031068", "_version_": 1580845609670148096, "category_eng": ["Phenotype"], "iri_std": "http://purl.obolibrary.org/obo/HP_0031068", "id": "HP:0031068", "definition": ["Femoral torsion, also known as femoral rotation or femoral version, refers to the twist between the proximal and distal parts of the femur on the transverse plane. Femoral anteversion averages between 30-40 degress at birth, and between 8-14 degrees in adults. This term applies if the amount of femoral torsion exceeds this range."], "label": ["Increased femoral torsion"], "definition_eng": ["Femoral torsion, also known as femoral rotation or femoral version, refers to the twist between the proximal and distal parts of the femur on the transverse plane. Femoral anteversion averages between 30-40 degress at birth, and between 8-14 degrees in adults. This term applies if the amount of femoral torsion exceeds this range."], "category": ["Phenotype"]}, {"leaf": false, "category_std": ["Phenotype"], "id_std": "HP:0031069", "iri": "http://purl.obolibrary.org/obo/HP_0031069", "label_eng": ["Abnormal femoral torsion"], "definition_std": ["Femoral torsion, also known as femoral rotation or femoral version, refers to the twist between the proximal and distal parts of the femur on the transverse plane. Femoral anteversion averages between 30-40 degress at birth, and between 8-14 degrees in adults. This term applies if the amount of femoral torsion deviates from this range."], "id_eng": "HP:0031069", "definition_kw": ["Femoral torsion, also known as femoral rotation or femoral version, refers to the twist between the proximal and distal parts of the femur on the transverse plane. Femoral anteversion averages between 30-40 degress at birth, and between 8-14 degrees in adults. This term applies if the amount of femoral torsion deviates from this range."], "category_kw": ["Phenotype"], "iri_eng": "http://purl.obolibrary.org/obo/HP_0031069", "label_std": ["Abnormal femoral torsion"], "score": 14.34713, "id_kw": "HP:0031069", "label_kw": ["Abnormal femoral torsion"], "iri_kw": "http://purl.obolibrary.org/obo/HP_0031069", "_version_": 1580845609670148097, "category_eng": ["Phenotype"], "iri_std": "http://purl.obolibrary.org/obo/HP_0031069", "id": "HP:0031069", "definition": ["Femoral torsion, also known as femoral rotation or femoral version, refers to the twist between the proximal and distal parts of the femur on the transverse plane. Femoral anteversion averages between 30-40 degress at birth, and between 8-14 degrees in adults. This term applies if the amount of femoral torsion deviates from this range."], "label": ["Abnormal femoral torsion"], "definition_eng": ["Femoral torsion, also known as femoral rotation or femoral version, refers to the twist between the proximal and distal parts of the femur on the transverse plane. Femoral anteversion averages between 30-40 degress at birth, and between 8-14 degrees in adults. This term applies if the amount of femoral torsion deviates from this range."], "category": ["Phenotype"]}, {"leaf": true, "category_std": ["Phenotype"], "id_std": "HP:0031070", "iri": "http://purl.obolibrary.org/obo/HP_0031070", "label_eng": ["Decreased femoral torsion"], "definition_std": ["Femoral torsion, also known as femoral rotation or femoral version, refers to the twist between the proximal and distal parts of the femur on the transverse plane. Femoral anteversion averages between 30-40 degress at birth, and between 8-14 degrees in adults. This term applies if the amount of femoral torsion is below this range."], "id_eng": "HP:0031070", "definition_kw": ["Femoral torsion, also known as femoral rotation or femoral version, refers to the twist between the proximal and distal parts of the femur on the transverse plane. Femoral anteversion averages between 30-40 degress at birth, and between 8-14 degrees in adults. This term applies if the amount of femoral torsion is below this range."], "category_kw": ["Phenotype"], "iri_eng": "http://purl.obolibrary.org/obo/HP_0031070", "label_std": ["Decreased femoral torsion"], "score": 14.34713, "id_kw": "HP:0031070", "label_kw": ["Decreased femoral torsion"], "iri_kw": "http://purl.obolibrary.org/obo/HP_0031070", "_version_": 1580845609676439553, "category_eng": ["Phenotype"], "iri_std": "http://purl.obolibrary.org/obo/HP_0031070", "id": "HP:0031070", "definition": ["Femoral torsion, also known as femoral rotation or femoral version, refers to the twist between the proximal and distal parts of the femur on the transverse plane. Femoral anteversion averages between 30-40 degress at birth, and between 8-14 degrees in adults. This term applies if the amount of femoral torsion is below this range."], "label": ["Decreased femoral torsion"], "definition_eng": ["Femoral torsion, also known as femoral rotation or femoral version, refers to the twist between the proximal and distal parts of the femur on the transverse plane. Femoral anteversion averages between 30-40 degress at birth, and between 8-14 degrees in adults. This term applies if the amount of femoral torsion is below this range."], "category": ["Phenotype"]}, {"synonym": ["Primary Non-Hodgkin Lymphoma of the Bone", "Primary Non-Hodgkin Lymphoma of Bone", "Primary Bone Non-Hodgkin Lymphoma"], "equivalent_curie_eng": ["UMLS:C4054154"], "leaf": true, "category_std": ["disease"], "id_std": "OBO:NCIT_C121930", "iri": "http://purl.obolibrary.org/obo/NCIT_C121930", "equivalent_iri_kw": ["http://purl.obolibrary.org/obo/UMLS_C4054154"], "label_eng": ["Primary Non-Hodgkin Lymphoma of Bone"], "definition_std": ["A non-Hodgkin lymphoma that arises from the bone, without lymph node or other extranodal involvement.  The femur, spine, and pelvic bones are the most frequently affected areas.  The majority of cases are diffuse large B-cell lymphomas.  Most patients present with pain in the affected area.  Systemic symptoms are rare."], "id_eng": "OBO:NCIT_C121930", "definition_kw": ["A non-Hodgkin lymphoma that arises from the bone, without lymph node or other extranodal involvement.  The femur, spine, and pelvic bones are the most frequently affected areas.  The majority of cases are diffuse large B-cell lymphomas.  Most patients present with pain in the affected area.  Systemic symptoms are rare."], "equivalent_iri_std": ["http://purl.obolibrary.org/obo/UMLS_C4054154"], "category_kw": ["disease"], "iri_eng": "http://purl.obolibrary.org/obo/NCIT_C121930", "label_std": ["Primary Non-Hodgkin Lymphoma of Bone"], "equivalent_curie": ["UMLS:C4054154"], "equivalent_curie_kw": ["UMLS:C4054154"], "synonym_eng": ["Primary Non-Hodgkin Lymphoma of the Bone", "Primary Non-Hodgkin Lymphoma of Bone", "Primary Bone Non-Hodgkin Lymphoma"], "score": 14.34713, "id_kw": "OBO:NCIT_C121930", "equivalent_iri_eng": ["http://purl.obolibrary.org/obo/UMLS_C4054154"], "label_kw": ["Primary Non-Hodgkin Lymphoma of Bone"], "iri_kw": "http://purl.obolibrary.org/obo/NCIT_C121930", "equivalent_iri": ["http://purl.obolibrary.org/obo/UMLS_C4054154"], "_version_": 1580845612641812481, "category_eng": ["disease"], "iri_std": "http://purl.obolibrary.org/obo/NCIT_C121930", "id": "OBO:NCIT_C121930", "definition": ["A non-Hodgkin lymphoma that arises from the bone, without lymph node or other extranodal involvement.  The femur, spine, and pelvic bones are the most frequently affected areas.  The majority of cases are diffuse large B-cell lymphomas.  Most patients present with pain in the affected area.  Systemic symptoms are rare."], "synonym_kw": ["Primary Non-Hodgkin Lymphoma of the Bone", "Primary Non-Hodgkin Lymphoma of Bone", "Primary Bone Non-Hodgkin Lymphoma"], "synonym_std": ["Primary Non-Hodgkin Lymphoma of the Bone", "Primary Non-Hodgkin Lymphoma of Bone", "Primary Bone Non-Hodgkin Lymphoma"], "label": ["Primary Non-Hodgkin Lymphoma of Bone"], "definition_eng": ["A non-Hodgkin lymphoma that arises from the bone, without lymph node or other extranodal involvement.  The femur, spine, and pelvic bones are the most frequently affected areas.  The majority of cases are diffuse large B-cell lymphomas.  Most patients present with pain in the affected area.  Systemic symptoms are rare."], "equivalent_curie_std": ["UMLS:C4054154"], "category": ["disease"]}, {"synonym": ["Lymphoma of the bone", "Primary Lymphoma of Bone", "Primary Bone Lymphoma", "lymphoma of bone", "Primary Lymphoma of the Bone"], "equivalent_curie_eng": ["OBO:NCIT_C6620", "UMLS:C1332582", "Orphanet:314684"], "leaf": false, "category_std": ["disease"], "id_std": "DOID:6759", "iri": "http://purl.obolibrary.org/obo/DOID_6759", "equivalent_iri_kw": ["http://purl.obolibrary.org/obo/NCIT_C6620", "http://purl.obolibrary.org/obo/UMLS_C1332582", "http://www.orpha.net/ORDO/Orphanet_314684"], "label_eng": ["bone lymphoma"], "definition_std": ["A rare non-Hodgkin lymphoma or even more rarely, a Hodgkin lymphoma that arises from the bone, without lymph node or other extranodal involvement.  The femur, spine, and pelvic bones are the most commonly affected sites.  The majority of patients present with bone pain in the affected area.  A single bone or multiple skeletal sites may be involved. The prognosis is related to the cell type and the stage of the disease."], "id_eng": "DOID:6759", "definition_kw": ["A rare non-Hodgkin lymphoma or even more rarely, a Hodgkin lymphoma that arises from the bone, without lymph node or other extranodal involvement.  The femur, spine, and pelvic bones are the most commonly affected sites.  The majority of patients present with bone pain in the affected area.  A single bone or multiple skeletal sites may be involved. The prognosis is related to the cell type and the stage of the disease."], "equivalent_iri_std": ["http://purl.obolibrary.org/obo/NCIT_C6620", "http://purl.obolibrary.org/obo/UMLS_C1332582", "http://www.orpha.net/ORDO/Orphanet_314684"], "category_kw": ["disease"], "iri_eng": "http://purl.obolibrary.org/obo/DOID_6759", "label_std": ["bone lymphoma"], "equivalent_curie": ["OBO:NCIT_C6620", "UMLS:C1332582", "Orphanet:314684"], "equivalent_curie_kw": ["OBO:NCIT_C6620", "UMLS:C1332582", "Orphanet:314684"], "synonym_eng": ["Lymphoma of the bone", "Primary Lymphoma of Bone", "Primary Bone Lymphoma", "lymphoma of bone", "Primary Lymphoma of the Bone"], "score": 14.34713, "id_kw": "DOID:6759", "equivalent_iri_eng": ["http://purl.obolibrary.org/obo/NCIT_C6620", "http://purl.obolibrary.org/obo/UMLS_C1332582", "http://www.orpha.net/ORDO/Orphanet_314684"], "label_kw": ["bone lymphoma"], "iri_kw": "http://purl.obolibrary.org/obo/DOID_6759", "equivalent_iri": ["http://purl.obolibrary.org/obo/NCIT_C6620", "http://purl.obolibrary.org/obo/UMLS_C1332582", "http://www.orpha.net/ORDO/Orphanet_314684"], "_version_": 1580845602409807872, "category_eng": ["disease"], "iri_std": "http://purl.obolibrary.org/obo/DOID_6759", "id": "DOID:6759", "definition": ["A rare non-Hodgkin lymphoma or even more rarely, a Hodgkin lymphoma that arises from the bone, without lymph node or other extranodal involvement.  The femur, spine, and pelvic bones are the most commonly affected sites.  The majority of patients present with bone pain in the affected area.  A single bone or multiple skeletal sites may be involved. The prognosis is related to the cell type and the stage of the disease."], "synonym_kw": ["Lymphoma of the bone", "Primary Lymphoma of Bone", "Primary Bone Lymphoma", "lymphoma of bone", "Primary Lymphoma of the Bone"], "synonym_std": ["Lymphoma of the bone", "Primary Lymphoma of Bone", "Primary Bone Lymphoma", "lymphoma of bone", "Primary Lymphoma of the Bone"], "label": ["bone lymphoma"], "definition_eng": ["A rare non-Hodgkin lymphoma or even more rarely, a Hodgkin lymphoma that arises from the bone, without lymph node or other extranodal involvement.  The femur, spine, and pelvic bones are the most commonly affected sites.  The majority of patients present with bone pain in the affected area.  A single bone or multiple skeletal sites may be involved. The prognosis is related to the cell type and the stage of the disease."], "equivalent_curie_std": ["OBO:NCIT_C6620", "UMLS:C1332582", "Orphanet:314684"], "category": ["disease"]}, {"synonym": ["Childhood Intracortical Osteosarcoma", "Childhood Conventional Osteosarcoma"], "equivalent_curie_eng": ["UMLS:C1332974", "OBO:NCIT_C6590"], "leaf": true, "category_std": ["disease"], "id_std": "DOID:7612", "iri": "http://purl.obolibrary.org/obo/DOID_7612", "equivalent_iri_kw": ["http://purl.obolibrary.org/obo/UMLS_C1332974", "http://purl.obolibrary.org/obo/NCIT_C6590"], "label_eng": ["childhood intracortical osteosarcoma"], "definition_std": ["A high grade malignant bone-forming mesenchymal neoplasm that produces osteoid and occurs in childhood.  It arises from the medullary portion of the bone.  It affects the long bones, and most commonly, the distal femur, proximal tibia, and proximal humerus.  Pain with or without a palpable mass is the most common clinical presentation.  It usually has an aggressive growth and may metastasize through the hematogenous route.  The lung is the most frequent site of metastasis."], "id_eng": "DOID:7612", "definition_kw": ["A high grade malignant bone-forming mesenchymal neoplasm that produces osteoid and occurs in childhood.  It arises from the medullary portion of the bone.  It affects the long bones, and most commonly, the distal femur, proximal tibia, and proximal humerus.  Pain with or without a palpable mass is the most common clinical presentation.  It usually has an aggressive growth and may metastasize through the hematogenous route.  The lung is the most frequent site of metastasis."], "equivalent_iri_std": ["http://purl.obolibrary.org/obo/UMLS_C1332974", "http://purl.obolibrary.org/obo/NCIT_C6590"], "category_kw": ["disease"], "iri_eng": "http://purl.obolibrary.org/obo/DOID_7612", "label_std": ["childhood intracortical osteosarcoma"], "equivalent_curie": ["UMLS:C1332974", "OBO:NCIT_C6590"], "equivalent_curie_kw": ["UMLS:C1332974", "OBO:NCIT_C6590"], "synonym_eng": ["Childhood Intracortical Osteosarcoma", "Childhood Conventional Osteosarcoma"], "score": 14.34713, "id_kw": "DOID:7612", "equivalent_iri_eng": ["http://purl.obolibrary.org/obo/UMLS_C1332974", "http://purl.obolibrary.org/obo/NCIT_C6590"], "label_kw": ["childhood intracortical osteosarcoma"], "iri_kw": "http://purl.obolibrary.org/obo/DOID_7612", "equivalent_iri": ["http://purl.obolibrary.org/obo/UMLS_C1332974", "http://purl.obolibrary.org/obo/NCIT_C6590"], "_version_": 1580845603353526274, "category_eng": ["disease"], "iri_std": "http://purl.obolibrary.org/obo/DOID_7612", "id": "DOID:7612", "definition": ["A high grade malignant bone-forming mesenchymal neoplasm that produces osteoid and occurs in childhood.  It arises from the medullary portion of the bone.  It affects the long bones, and most commonly, the distal femur, proximal tibia, and proximal humerus.  Pain with or without a palpable mass is the most common clinical presentation.  It usually has an aggressive growth and may metastasize through the hematogenous route.  The lung is the most frequent site of metastasis."], "synonym_kw": ["Childhood Intracortical Osteosarcoma", "Childhood Conventional Osteosarcoma"], "synonym_std": ["Childhood Intracortical Osteosarcoma", "Childhood Conventional Osteosarcoma"], "label": ["childhood intracortical osteosarcoma"], "definition_eng": ["A high grade malignant bone-forming mesenchymal neoplasm that produces osteoid and occurs in childhood.  It arises from the medullary portion of the bone.  It affects the long bones, and most commonly, the distal femur, proximal tibia, and proximal humerus.  Pain with or without a palpable mass is the most common clinical presentation.  It usually has an aggressive growth and may metastasize through the hematogenous route.  The lung is the most frequent site of metastasis."], "equivalent_curie_std": ["UMLS:C1332974", "OBO:NCIT_C6590"], "category": ["disease"]}, {"synonym": ["Central Osteosarcoma", "Intracortical osteosarcoma (morphologic abnormality)", "Conventional Central Osteosarcoma", "Intracortical Osteogenic Sarcoma", "Conventional Osteosarcoma", "Medullary Osteosarcoma", "Intracortical Osteosarcoma"], "equivalent_curie_eng": ["OBO:NCIT_C35870"], "leaf": false, "category_std": ["disease"], "id_std": "DOID:7602", "iri": "http://purl.obolibrary.org/obo/DOID_7602", "equivalent_iri_kw": ["http://purl.obolibrary.org/obo/NCIT_C35870"], "label_eng": ["intracortical osteogenic sarcoma"], "definition_std": ["A high grade malignant bone-forming mesenchymal neoplasm producing osteoid. The tumor arises from the medullary portion of the bone. It affects the long bones and most commonly, the distal femur, proximal tibia, and proximal humerus. Pain with or without a palpable mass is the most common clinical presentation. It usually has an aggressive growth and may metastasize through the hematogenous route. The lung is the most frequent site of metastasis."], "id_eng": "DOID:7602", "definition_kw": ["A high grade malignant bone-forming mesenchymal neoplasm producing osteoid. The tumor arises from the medullary portion of the bone. It affects the long bones and most commonly, the distal femur, proximal tibia, and proximal humerus. Pain with or without a palpable mass is the most common clinical presentation. It usually has an aggressive growth and may metastasize through the hematogenous route. The lung is the most frequent site of metastasis."], "equivalent_iri_std": ["http://purl.obolibrary.org/obo/NCIT_C35870"], "category_kw": ["disease"], "iri_eng": "http://purl.obolibrary.org/obo/DOID_7602", "label_std": ["intracortical osteogenic sarcoma"], "equivalent_curie": ["OBO:NCIT_C35870"], "equivalent_curie_kw": ["OBO:NCIT_C35870"], "synonym_eng": ["Central Osteosarcoma", "Intracortical osteosarcoma (morphologic abnormality)", "Conventional Central Osteosarcoma", "Intracortical Osteogenic Sarcoma", "Conventional Osteosarcoma", "Medullary Osteosarcoma", "Intracortical Osteosarcoma"], "score": 14.34713, "id_kw": "DOID:7602", "equivalent_iri_eng": ["http://purl.obolibrary.org/obo/NCIT_C35870"], "label_kw": ["intracortical osteogenic sarcoma"], "iri_kw": "http://purl.obolibrary.org/obo/DOID_7602", "equivalent_iri": ["http://purl.obolibrary.org/obo/NCIT_C35870"], "_version_": 1580845603604135936, "category_eng": ["disease"], "iri_std": "http://purl.obolibrary.org/obo/DOID_7602", "id": "DOID:7602", "definition": ["A high grade malignant bone-forming mesenchymal neoplasm producing osteoid. The tumor arises from the medullary portion of the bone. It affects the long bones and most commonly, the distal femur, proximal tibia, and proximal humerus. Pain with or without a palpable mass is the most common clinical presentation. It usually has an aggressive growth and may metastasize through the hematogenous route. The lung is the most frequent site of metastasis."], "synonym_kw": ["Central Osteosarcoma", "Intracortical osteosarcoma (morphologic abnormality)", "Conventional Central Osteosarcoma", "Intracortical Osteogenic Sarcoma", "Conventional Osteosarcoma", "Medullary Osteosarcoma", "Intracortical Osteosarcoma"], "synonym_std": ["Central Osteosarcoma", "Intracortical osteosarcoma (morphologic abnormality)", "Conventional Central Osteosarcoma", "Intracortical Osteogenic Sarcoma", "Conventional Osteosarcoma", "Medullary Osteosarcoma", "Intracortical Osteosarcoma"], "label": ["intracortical osteogenic sarcoma"], "definition_eng": ["A high grade malignant bone-forming mesenchymal neoplasm producing osteoid. The tumor arises from the medullary portion of the bone. It affects the long bones and most commonly, the distal femur, proximal tibia, and proximal humerus. Pain with or without a palpable mass is the most common clinical presentation. It usually has an aggressive growth and may metastasize through the hematogenous route. The lung is the most frequent site of metastasis."], "equivalent_curie_std": ["OBO:NCIT_C35870"], "category": ["disease"]}, {"synonym": ["Regressive metaphyseal dysplasia", "Maroteaux-Verloes-Stanescu syndrome", "Early-onset regressive form of metaphyseal dysplasia"], "equivalent_curie_eng": ["UMLS:C0432226", "MESH:C537351"], "leaf": false, "category_std": ["disease"], "id_std": "Orphanet:1040", "iri": "http://www.orpha.net/ORDO/Orphanet_1040", "equivalent_iri_kw": ["http://purl.obolibrary.org/obo/UMLS_C0432226", "http://purl.obolibrary.org/obo/MESH_C537351"], "label_eng": ["Metaphyseal anadysplasia"], "definition_std": ["Metaphyseal anadysplasia is a very rare form of metaphyseal dysplasia characterized by short stature, rhizomelic micromelia and a mild varus deformity of the legs evident from the first months of life, that is associated with radiological features of severe metaphyseal changes (irregularities, widening and marginal blurring) in long bones, most prominent in proximal femurs, and generalized osteopenia, and that usually spontaneously resolves by the age of three years. Severe autosomal dominant and milder recessive variants have been observed."], "id_eng": "Orphanet:1040", "definition_kw": ["Metaphyseal anadysplasia is a very rare form of metaphyseal dysplasia characterized by short stature, rhizomelic micromelia and a mild varus deformity of the legs evident from the first months of life, that is associated with radiological features of severe metaphyseal changes (irregularities, widening and marginal blurring) in long bones, most prominent in proximal femurs, and generalized osteopenia, and that usually spontaneously resolves by the age of three years. Severe autosomal dominant and milder recessive variants have been observed."], "equivalent_iri_std": ["http://purl.obolibrary.org/obo/UMLS_C0432226", "http://purl.obolibrary.org/obo/MESH_C537351"], "category_kw": ["disease"], "iri_eng": "http://www.orpha.net/ORDO/Orphanet_1040", "label_std": ["Metaphyseal anadysplasia"], "equivalent_curie": ["UMLS:C0432226", "MESH:C537351"], "equivalent_curie_kw": ["UMLS:C0432226", "MESH:C537351"], "synonym_eng": ["Regressive metaphyseal dysplasia", "Maroteaux-Verloes-Stanescu syndrome", "Early-onset regressive form of metaphyseal dysplasia"], "score": 13.12989, "id_kw": "Orphanet:1040", "equivalent_iri_eng": ["http://purl.obolibrary.org/obo/UMLS_C0432226", "http://purl.obolibrary.org/obo/MESH_C537351"], "label_kw": ["Metaphyseal anadysplasia"], "iri_kw": "http://www.orpha.net/ORDO/Orphanet_1040", "equivalent_iri": ["http://purl.obolibrary.org/obo/UMLS_C0432226", "http://purl.obolibrary.org/obo/MESH_C537351"], "_version_": 1580845512713568257, "category_eng": ["disease"], "iri_std": "http://www.orpha.net/ORDO/Orphanet_1040", "id": "Orphanet:1040", "definition": ["Metaphyseal anadysplasia is a very rare form of metaphyseal dysplasia characterized by short stature, rhizomelic micromelia and a mild varus deformity of the legs evident from the first months of life, that is associated with radiological features of severe metaphyseal changes (irregularities, widening and marginal blurring) in long bones, most prominent in proximal femurs, and generalized osteopenia, and that usually spontaneously resolves by the age of three years. Severe autosomal dominant and milder recessive variants have been observed."], "synonym_kw": ["Regressive metaphyseal dysplasia", "Maroteaux-Verloes-Stanescu syndrome", "Early-onset regressive form of metaphyseal dysplasia"], "synonym_std": ["Regressive metaphyseal dysplasia", "Maroteaux-Verloes-Stanescu syndrome", "Early-onset regressive form of metaphyseal dysplasia"], "label": ["Metaphyseal anadysplasia"], "definition_eng": ["Metaphyseal anadysplasia is a very rare form of metaphyseal dysplasia characterized by short stature, rhizomelic micromelia and a mild varus deformity of the legs evident from the first months of life, that is associated with radiological features of severe metaphyseal changes (irregularities, widening and marginal blurring) in long bones, most prominent in proximal femurs, and generalized osteopenia, and that usually spontaneously resolves by the age of three years. Severe autosomal dominant and milder recessive variants have been observed."], "equivalent_curie_std": ["UMLS:C0432226", "MESH:C537351"], "category": ["disease"]}, {"synonym": ["Desbuquois Dysplasia type 2", "DESBUQUOIS DYSPLASIA 2; DBQD2", "DBQD2"], "equivalent_curie_eng": ["UMLS:C4014294"], "leaf": true, "category_std": ["disease"], "id_std": "OMIM:615777", "iri": "http://purl.obolibrary.org/obo/OMIM_615777", "equivalent_iri_kw": ["http://purl.obolibrary.org/obo/UMLS_C4014294"], "label_eng": ["Desbuquois dysplasia 2", "Desbuquois Dysplasia 2"], "definition_std": ["Desbuquois dysplasia (DBQD), which belongs to the multiple dislocation group of disorders, is characterized by dislocations of large joints, severe pre- and postnatal growth retardation, joint laxity, and flat face with prominent eyes. Radiologic features include short long bones with an exaggerated trochanter that gives a 'monkey wrench' appearance to the proximal femur, and advanced carpal and tarsal ossification (summary by {1:Bui et al., 2014}).\n\nFor a discussion of genetic heterogeneity of Desbuquois dysplasia, see DBQD1 (OMIM:251450).", "See http://www.omim.org/entry/615777"], "id_eng": "OMIM:615777", "definition_kw": ["Desbuquois dysplasia (DBQD), which belongs to the multiple dislocation group of disorders, is characterized by dislocations of large joints, severe pre- and postnatal growth retardation, joint laxity, and flat face with prominent eyes. Radiologic features include short long bones with an exaggerated trochanter that gives a 'monkey wrench' appearance to the proximal femur, and advanced carpal and tarsal ossification (summary by {1:Bui et al., 2014}).\n\nFor a discussion of genetic heterogeneity of Desbuquois dysplasia, see DBQD1 (OMIM:251450).", "See http://www.omim.org/entry/615777"], "equivalent_iri_std": ["http://purl.obolibrary.org/obo/UMLS_C4014294"], "category_kw": ["disease"], "iri_eng": "http://purl.obolibrary.org/obo/OMIM_615777", "label_std": ["Desbuquois dysplasia 2", "Desbuquois Dysplasia 2"], "equivalent_curie": ["UMLS:C4014294"], "equivalent_curie_kw": ["UMLS:C4014294"], "synonym_eng": ["Desbuquois Dysplasia type 2", "DESBUQUOIS DYSPLASIA 2; DBQD2", "DBQD2"], "score": 13.12989, "id_kw": "OMIM:615777", "equivalent_iri_eng": ["http://purl.obolibrary.org/obo/UMLS_C4014294"], "label_kw": ["Desbuquois dysplasia 2", "Desbuquois Dysplasia 2"], "iri_kw": "http://purl.obolibrary.org/obo/OMIM_615777", "equivalent_iri": ["http://purl.obolibrary.org/obo/UMLS_C4014294"], "_version_": 1580845545942941696, "category_eng": ["disease"], "iri_std": "http://purl.obolibrary.org/obo/OMIM_615777", "id": "OMIM:615777", "definition": ["Desbuquois dysplasia (DBQD), which belongs to the multiple dislocation group of disorders, is characterized by dislocations of large joints, severe pre- and postnatal growth retardation, joint laxity, and flat face with prominent eyes. Radiologic features include short long bones with an exaggerated trochanter that gives a 'monkey wrench' appearance to the proximal femur, and advanced carpal and tarsal ossification (summary by {1:Bui et al., 2014}).\n\nFor a discussion of genetic heterogeneity of Desbuquois dysplasia, see DBQD1 (OMIM:251450).", "See http://www.omim.org/entry/615777"], "synonym_kw": ["Desbuquois Dysplasia type 2", "DESBUQUOIS DYSPLASIA 2; DBQD2", "DBQD2"], "synonym_std": ["Desbuquois Dysplasia type 2", "DESBUQUOIS DYSPLASIA 2; DBQD2", "DBQD2"], "label": ["Desbuquois dysplasia 2", "Desbuquois Dysplasia 2"], "definition_eng": ["Desbuquois dysplasia (DBQD), which belongs to the multiple dislocation group of disorders, is characterized by dislocations of large joints, severe pre- and postnatal growth retardation, joint laxity, and flat face with prominent eyes. Radiologic features include short long bones with an exaggerated trochanter that gives a 'monkey wrench' appearance to the proximal femur, and advanced carpal and tarsal ossification (summary by {1:Bui et al., 2014}).\n\nFor a discussion of genetic heterogeneity of Desbuquois dysplasia, see DBQD1 (OMIM:251450).", "See http://www.omim.org/entry/615777"], "equivalent_curie_std": ["UMLS:C4014294"], "category": ["disease"]}, {"leaf": true, "category_std": ["disease"], "id_std": "Orphanet:85197", "iri": "http://www.orpha.net/ORDO/Orphanet_85197", "label_eng": ["Genochondromatosis type 1"], "definition_std": ["Genochondromatosis is characterized by chondromatosis, typically involving the clavicles, upper end of the humerus, and lower end of the femur. Lesions are bilateral and symmetrical. It has been described four patients from the same family and is transmitted as an autosomal dominant trait. Another disorder, genochondromatosis II, shows strong similarities to genochondromatosis but is characterized by the involvement of the short tubular bones and by normal clavicles. It has been described in one unrelated family. Genochondromatosis II may also be inherited as an autosomal dominant trait. Genochondromatosis has a benign clinical course."], "id_eng": "Orphanet:85197", "definition_kw": ["Genochondromatosis is characterized by chondromatosis, typically involving the clavicles, upper end of the humerus, and lower end of the femur. Lesions are bilateral and symmetrical. It has been described four patients from the same family and is transmitted as an autosomal dominant trait. Another disorder, genochondromatosis II, shows strong similarities to genochondromatosis but is characterized by the involvement of the short tubular bones and by normal clavicles. It has been described in one unrelated family. Genochondromatosis II may also be inherited as an autosomal dominant trait. Genochondromatosis has a benign clinical course."], "category_kw": ["disease"], "iri_eng": "http://www.orpha.net/ORDO/Orphanet_85197", "label_std": ["Genochondromatosis type 1"], "score": 13.12989, "id_kw": "Orphanet:85197", "label_kw": ["Genochondromatosis type 1"], "iri_kw": "http://www.orpha.net/ORDO/Orphanet_85197", "_version_": 1580845550698233856, "category_eng": ["disease"], "iri_std": "http://www.orpha.net/ORDO/Orphanet_85197", "id": "Orphanet:85197", "definition": ["Genochondromatosis is characterized by chondromatosis, typically involving the clavicles, upper end of the humerus, and lower end of the femur. Lesions are bilateral and symmetrical. It has been described four patients from the same family and is transmitted as an autosomal dominant trait. Another disorder, genochondromatosis II, shows strong similarities to genochondromatosis but is characterized by the involvement of the short tubular bones and by normal clavicles. It has been described in one unrelated family. Genochondromatosis II may also be inherited as an autosomal dominant trait. Genochondromatosis has a benign clinical course."], "label": ["Genochondromatosis type 1"], "definition_eng": ["Genochondromatosis is characterized by chondromatosis, typically involving the clavicles, upper end of the humerus, and lower end of the femur. Lesions are bilateral and symmetrical. It has been described four patients from the same family and is transmitted as an autosomal dominant trait. Another disorder, genochondromatosis II, shows strong similarities to genochondromatosis but is characterized by the involvement of the short tubular bones and by normal clavicles. It has been described in one unrelated family. Genochondromatosis II may also be inherited as an autosomal dominant trait. Genochondromatosis has a benign clinical course."], "category": ["disease"]}, {"synonym": ["AO1", "Giant Cell Chondrodysplasia", "Atelosteogenesis type 1", "Spondylohumerofemoral Hypoplasia", "Atelosteogenesis Type I", "Atelosteogenesis, Type I", "Spondylo-humero-femoral dysplasia", "Atelosteogenesis Type 1", "Giant cell chondrodysplasia", "Spondylohumerofemoral hypoplasia", "Aoi", "AOI", "ATELOSTEOGENESIS, TYPE I; AO1"], "equivalent_curie_eng": ["Orphanet:1190", "UMLS:C0265283", "MESH:C535396"], "leaf": true, "category_std": ["disease"], "id_std": "OMIM:108720", "iri": "http://purl.obolibrary.org/obo/OMIM_108720", "equivalent_iri_kw": ["http://www.orpha.net/ORDO/Orphanet_1190", "http://purl.obolibrary.org/obo/UMLS_C0265283", "http://purl.obolibrary.org/obo/MESH_C535396"], "label_eng": ["Atelosteogenesis type I", "Atelosteogenesis, Type 1", "Atelosteogenesis type 1"], "definition_std": ["Atelosteogenesis I is a perinatally lethal skeletal dysplasia characterized by severe short-limbed dwarfism, joint dislocations, club feet along with distinctive facies and radiographic findings.", "Atelosteogenesis is the name given by {6:Maroteaux et al. (1982)} to a lethal chondrodysplasia characterized by distal hypoplasia of the humeri and femurs, hypoplasia of the midthoracic spine, occasionally complete lack of ossification of single hand bones, and the finding in cartilage of multiple degenerated chondrocytes encapsulated in fibrous tissue. {8:Rimoin et al. (1980)} termed it 'giant cell chondrodysplasia.' Patients with AO1 exhibit severe short-limbed dwarfism and dislocated elbows, hips, and knees ({3:Jeon et al., 2014}).\n\n<Subhead> Genetic Heterogeneity of Atelosteogenesis\n\nAtelosteogenesis type II (AO2; OMIM:256050) is caused by mutation in the SLC26A2 gene (OMIM:606718) on chromosome 5q32. AO3 (OMIM:108721) is also caused by mutation in the FLNB gene (OMIM:603381)."], "id_eng": "OMIM:108720", "definition_kw": ["Atelosteogenesis I is a perinatally lethal skeletal dysplasia characterized by severe short-limbed dwarfism, joint dislocations, club feet along with distinctive facies and radiographic findings.", "Atelosteogenesis is the name given by {6:Maroteaux et al. (1982)} to a lethal chondrodysplasia characterized by distal hypoplasia of the humeri and femurs, hypoplasia of the midthoracic spine, occasionally complete lack of ossification of single hand bones, and the finding in cartilage of multiple degenerated chondrocytes encapsulated in fibrous tissue. {8:Rimoin et al. (1980)} termed it 'giant cell chondrodysplasia.' Patients with AO1 exhibit severe short-limbed dwarfism and dislocated elbows, hips, and knees ({3:Jeon et al., 2014}).\n\n<Subhead> Genetic Heterogeneity of Atelosteogenesis\n\nAtelosteogenesis type II (AO2; OMIM:256050) is caused by mutation in the SLC26A2 gene (OMIM:606718) on chromosome 5q32. AO3 (OMIM:108721) is also caused by mutation in the FLNB gene (OMIM:603381)."], "equivalent_iri_std": ["http://www.orpha.net/ORDO/Orphanet_1190", "http://purl.obolibrary.org/obo/UMLS_C0265283", "http://purl.obolibrary.org/obo/MESH_C535396"], "category_kw": ["disease"], "iri_eng": "http://purl.obolibrary.org/obo/OMIM_108720", "label_std": ["Atelosteogenesis type I", "Atelosteogenesis, Type 1", "Atelosteogenesis type 1"], "equivalent_curie": ["Orphanet:1190", "UMLS:C0265283", "MESH:C535396"], "equivalent_curie_kw": ["Orphanet:1190", "UMLS:C0265283", "MESH:C535396"], "synonym_eng": ["AO1", "Giant Cell Chondrodysplasia", "Atelosteogenesis type 1", "Spondylohumerofemoral Hypoplasia", "Atelosteogenesis Type I", "Atelosteogenesis, Type I", "Spondylo-humero-femoral dysplasia", "Atelosteogenesis Type 1", "Giant cell chondrodysplasia", "Spondylohumerofemoral hypoplasia", "Aoi", "AOI", "ATELOSTEOGENESIS, TYPE I; AO1"], "score": 11.611979, "id_kw": "OMIM:108720", "equivalent_iri_eng": ["http://www.orpha.net/ORDO/Orphanet_1190", "http://purl.obolibrary.org/obo/UMLS_C0265283", "http://purl.obolibrary.org/obo/MESH_C535396"], "label_kw": ["Atelosteogenesis type I", "Atelosteogenesis, Type 1", "Atelosteogenesis type 1"], "iri_kw": "http://purl.obolibrary.org/obo/OMIM_108720", "equivalent_iri": ["http://www.orpha.net/ORDO/Orphanet_1190", "http://purl.obolibrary.org/obo/UMLS_C0265283", "http://purl.obolibrary.org/obo/MESH_C535396"], "_version_": 1580845510840811520, "category_eng": ["disease"], "iri_std": "http://purl.obolibrary.org/obo/OMIM_108720", "id": "OMIM:108720", "definition": ["Atelosteogenesis I is a perinatally lethal skeletal dysplasia characterized by severe short-limbed dwarfism, joint dislocations, club feet along with distinctive facies and radiographic findings.", "Atelosteogenesis is the name given by {6:Maroteaux et al. (1982)} to a lethal chondrodysplasia characterized by distal hypoplasia of the humeri and femurs, hypoplasia of the midthoracic spine, occasionally complete lack of ossification of single hand bones, and the finding in cartilage of multiple degenerated chondrocytes encapsulated in fibrous tissue. {8:Rimoin et al. (1980)} termed it 'giant cell chondrodysplasia.' Patients with AO1 exhibit severe short-limbed dwarfism and dislocated elbows, hips, and knees ({3:Jeon et al., 2014}).\n\n<Subhead> Genetic Heterogeneity of Atelosteogenesis\n\nAtelosteogenesis type II (AO2; OMIM:256050) is caused by mutation in the SLC26A2 gene (OMIM:606718) on chromosome 5q32. AO3 (OMIM:108721) is also caused by mutation in the FLNB gene (OMIM:603381)."], "synonym_kw": ["AO1", "Giant Cell Chondrodysplasia", "Atelosteogenesis type 1", "Spondylohumerofemoral Hypoplasia", "Atelosteogenesis Type I", "Atelosteogenesis, Type I", "Spondylo-humero-femoral dysplasia", "Atelosteogenesis Type 1", "Giant cell chondrodysplasia", "Spondylohumerofemoral hypoplasia", "Aoi", "AOI", "ATELOSTEOGENESIS, TYPE I; AO1"], "synonym_std": ["AO1", "Giant Cell Chondrodysplasia", "Atelosteogenesis type 1", "Spondylohumerofemoral Hypoplasia", "Atelosteogenesis Type I", "Atelosteogenesis, Type I", "Spondylo-humero-femoral dysplasia", "Atelosteogenesis Type 1", "Giant cell chondrodysplasia", "Spondylohumerofemoral hypoplasia", "Aoi", "AOI", "ATELOSTEOGENESIS, TYPE I; AO1"], "label": ["Atelosteogenesis type I", "Atelosteogenesis, Type 1", "Atelosteogenesis type 1"], "definition_eng": ["Atelosteogenesis I is a perinatally lethal skeletal dysplasia characterized by severe short-limbed dwarfism, joint dislocations, club feet along with distinctive facies and radiographic findings.", "Atelosteogenesis is the name given by {6:Maroteaux et al. (1982)} to a lethal chondrodysplasia characterized by distal hypoplasia of the humeri and femurs, hypoplasia of the midthoracic spine, occasionally complete lack of ossification of single hand bones, and the finding in cartilage of multiple degenerated chondrocytes encapsulated in fibrous tissue. {8:Rimoin et al. (1980)} termed it 'giant cell chondrodysplasia.' Patients with AO1 exhibit severe short-limbed dwarfism and dislocated elbows, hips, and knees ({3:Jeon et al., 2014}).\n\n<Subhead> Genetic Heterogeneity of Atelosteogenesis\n\nAtelosteogenesis type II (AO2; OMIM:256050) is caused by mutation in the SLC26A2 gene (OMIM:606718) on chromosome 5q32. AO3 (OMIM:108721) is also caused by mutation in the FLNB gene (OMIM:603381)."], "equivalent_curie_std": ["Orphanet:1190", "UMLS:C0265283", "MESH:C535396"], "category": ["disease"]}, {"synonym": ["Fetal thalidomide syndrome"], "leaf": true, "category_std": ["disease"], "id_std": "Orphanet:3312", "iri": "http://www.orpha.net/ORDO/Orphanet_3312", "label_eng": ["Thalidomide embryopathy"], "definition_std": [" exposure (between 20-36 days after fertilization) to thalidomide, a sedative used in treatment of a range of conditions, including morning sickness, leprosy and multiple myeloma (see these terms). Thalidomine embryopathy is characterized by phocomelia, amelia, forelimb and hand plate anomalies (absence of humerus and/or forearm, femur and/or lower leg, thumb anomalies). Other anomalies include facial hemangiomas, and damages to ears (anotia, microtia), eyes (microphthalmia, anophthalmos, coloboma, strabismus), internal organs (kidney, heart, and gastrointestinal tract), genitalia, and heart. Infant mortality associated with thalidomide embryopathy is estimated to be as high as 40%. Thalidomide is contraindicated in pregnancy and pregnancy prevention is recommended in women under treatment."], "id_eng": "Orphanet:3312", "definition_kw": [" exposure (between 20-36 days after fertilization) to thalidomide, a sedative used in treatment of a range of conditions, including morning sickness, leprosy and multiple myeloma (see these terms). Thalidomine embryopathy is characterized by phocomelia, amelia, forelimb and hand plate anomalies (absence of humerus and/or forearm, femur and/or lower leg, thumb anomalies). Other anomalies include facial hemangiomas, and damages to ears (anotia, microtia), eyes (microphthalmia, anophthalmos, coloboma, strabismus), internal organs (kidney, heart, and gastrointestinal tract), genitalia, and heart. Infant mortality associated with thalidomide embryopathy is estimated to be as high as 40%. Thalidomide is contraindicated in pregnancy and pregnancy prevention is recommended in women under treatment."], "category_kw": ["disease"], "iri_eng": "http://www.orpha.net/ORDO/Orphanet_3312", "label_std": ["Thalidomide embryopathy"], "synonym_eng": ["Fetal thalidomide syndrome"], "score": 11.611979, "id_kw": "Orphanet:3312", "label_kw": ["Thalidomide embryopathy"], "iri_kw": "http://www.orpha.net/ORDO/Orphanet_3312", "_version_": 1580845593344868353, "category_eng": ["disease"], "iri_std": "http://www.orpha.net/ORDO/Orphanet_3312", "id": "Orphanet:3312", "definition": [" exposure (between 20-36 days after fertilization) to thalidomide, a sedative used in treatment of a range of conditions, including morning sickness, leprosy and multiple myeloma (see these terms). Thalidomine embryopathy is characterized by phocomelia, amelia, forelimb and hand plate anomalies (absence of humerus and/or forearm, femur and/or lower leg, thumb anomalies). Other anomalies include facial hemangiomas, and damages to ears (anotia, microtia), eyes (microphthalmia, anophthalmos, coloboma, strabismus), internal organs (kidney, heart, and gastrointestinal tract), genitalia, and heart. Infant mortality associated with thalidomide embryopathy is estimated to be as high as 40%. Thalidomide is contraindicated in pregnancy and pregnancy prevention is recommended in women under treatment."], "synonym_kw": ["Fetal thalidomide syndrome"], "synonym_std": ["Fetal thalidomide syndrome"], "label": ["Thalidomide embryopathy"], "definition_eng": [" exposure (between 20-36 days after fertilization) to thalidomide, a sedative used in treatment of a range of conditions, including morning sickness, leprosy and multiple myeloma (see these terms). Thalidomine embryopathy is characterized by phocomelia, amelia, forelimb and hand plate anomalies (absence of humerus and/or forearm, femur and/or lower leg, thumb anomalies). Other anomalies include facial hemangiomas, and damages to ears (anotia, microtia), eyes (microphthalmia, anophthalmos, coloboma, strabismus), internal organs (kidney, heart, and gastrointestinal tract), genitalia, and heart. Infant mortality associated with thalidomide embryopathy is estimated to be as high as 40%. Thalidomide is contraindicated in pregnancy and pregnancy prevention is recommended in women under treatment."], "category": ["disease"]}, {"synonym": ["rcdp"], "leaf": false, "category_std": ["disease"], "id_std": "GeneReviews:NBK1270", "iri": "http://www.ncbi.nlm.nih.gov/books/NBK1270", "label_eng": ["Rhizomelic Chondrodysplasia Punctata Type 1"], "definition_std": ["Rhizomelic chondrodysplasia punctata type 1 (RCDP1) classic type, a peroxisome biogenesis disorder (PBD), is characterized by proximal shortening of the humerus and to a lesser degree the femur (rhizomelia), punctate calcifications in cartilage with epiphyseal and metaphyseal abnormalities (chondrodysplasia punctata, or CDP), coronal clefts of the vertebral bodies, and cataracts that are usually present at birth or appear in the first few months of life. Birth weight, length, and head circumference are often at the lower range of normal; postnatal growth deficiency is profound. Intellectual disability is severe, and the majority of children develop seizures. Most affected children do not survive the first decade of life; a proportion die in the neonatal period. A milder phenotype in which all affected individuals have congenital cataracts and chondrodysplasia is now recognized; some do not have rhizomelia, and some have less severe intellectual disability and growth deficiency. [GeneReviews:NBK1116, GeneReviews:NBK138602, GeneReviews:NBK1270]"], "id_eng": "GeneReviews:NBK1270", "definition_kw": ["Rhizomelic chondrodysplasia punctata type 1 (RCDP1) classic type, a peroxisome biogenesis disorder (PBD), is characterized by proximal shortening of the humerus and to a lesser degree the femur (rhizomelia), punctate calcifications in cartilage with epiphyseal and metaphyseal abnormalities (chondrodysplasia punctata, or CDP), coronal clefts of the vertebral bodies, and cataracts that are usually present at birth or appear in the first few months of life. Birth weight, length, and head circumference are often at the lower range of normal; postnatal growth deficiency is profound. Intellectual disability is severe, and the majority of children develop seizures. Most affected children do not survive the first decade of life; a proportion die in the neonatal period. A milder phenotype in which all affected individuals have congenital cataracts and chondrodysplasia is now recognized; some do not have rhizomelia, and some have less severe intellectual disability and growth deficiency. [GeneReviews:NBK1116, GeneReviews:NBK138602, GeneReviews:NBK1270]"], "category_kw": ["disease"], "iri_eng": "http://www.ncbi.nlm.nih.gov/books/NBK1270", "label_std": ["Rhizomelic Chondrodysplasia Punctata Type 1"], "synonym_eng": ["rcdp"], "score": 9.743797, "id_kw": "GeneReviews:NBK1270", "label_kw": ["Rhizomelic Chondrodysplasia Punctata Type 1"], "iri_kw": "http://www.ncbi.nlm.nih.gov/books/NBK1270", "_version_": 1580845511650312192, "category_eng": ["disease"], "iri_std": "http://www.ncbi.nlm.nih.gov/books/NBK1270", "id": "GeneReviews:NBK1270", "definition": ["Rhizomelic chondrodysplasia punctata type 1 (RCDP1) classic type, a peroxisome biogenesis disorder (PBD), is characterized by proximal shortening of the humerus and to a lesser degree the femur (rhizomelia), punctate calcifications in cartilage with epiphyseal and metaphyseal abnormalities (chondrodysplasia punctata, or CDP), coronal clefts of the vertebral bodies, and cataracts that are usually present at birth or appear in the first few months of life. Birth weight, length, and head circumference are often at the lower range of normal; postnatal growth deficiency is profound. Intellectual disability is severe, and the majority of children develop seizures. Most affected children do not survive the first decade of life; a proportion die in the neonatal period. A milder phenotype in which all affected individuals have congenital cataracts and chondrodysplasia is now recognized; some do not have rhizomelia, and some have less severe intellectual disability and growth deficiency. [GeneReviews:NBK1116, GeneReviews:NBK138602, GeneReviews:NBK1270]"], "synonym_kw": ["rcdp"], "synonym_std": ["rcdp"], "label": ["Rhizomelic Chondrodysplasia Punctata Type 1"], "definition_eng": ["Rhizomelic chondrodysplasia punctata type 1 (RCDP1) classic type, a peroxisome biogenesis disorder (PBD), is characterized by proximal shortening of the humerus and to a lesser degree the femur (rhizomelia), punctate calcifications in cartilage with epiphyseal and metaphyseal abnormalities (chondrodysplasia punctata, or CDP), coronal clefts of the vertebral bodies, and cataracts that are usually present at birth or appear in the first few months of life. Birth weight, length, and head circumference are often at the lower range of normal; postnatal growth deficiency is profound. Intellectual disability is severe, and the majority of children develop seizures. Most affected children do not survive the first decade of life; a proportion die in the neonatal period. A milder phenotype in which all affected individuals have congenital cataracts and chondrodysplasia is now recognized; some do not have rhizomelia, and some have less severe intellectual disability and growth deficiency. [GeneReviews:NBK1116, GeneReviews:NBK138602, GeneReviews:NBK1270]"], "category": ["disease"]}, {"synonym": ["DESBUQUOIS DYSPLASIA 1; DBQD1", "Desbuquois Syndrome", "Micromelic Dwarfism With Vertebral and Metaphyseal Abnormalities and Advanced Carpotarsal Ossification", "Desbuquois Dysplasia, Kim Variant", "DBQD1", "Desbuquois Dysplasia type 1"], "equivalent_curie_eng": ["UMLS:C4012146"], "leaf": true, "category_std": ["disease"], "id_std": "OMIM:251450", "iri": "http://purl.obolibrary.org/obo/OMIM_251450", "equivalent_iri_kw": ["http://purl.obolibrary.org/obo/UMLS_C4012146"], "label_eng": ["Desbuquois dysplasia 1", "Desbuquois Dysplasia 1"], "definition_std": ["See http://www.omim.org/entry/251450", "Desbuquois dysplasia (DBQD) is an autosomal recessive chondrodysplasia belonging to the multiple dislocation group and characterized by severe prenatal and postnatal growth retardation (stature less than -5 SD), joint laxity, short extremities, and progressive scoliosis. The main radiologic features are short long bones with metaphyseal splay, a 'Swedish key' appearance of the proximal femur (exaggerated trochanter), and advanced carpal and tarsal bone age with a delta phalanx (summary by {14:Huber et al., 2009}).\n\nDesbuquois dysplasia is clinically and radiographically heterogeneous, and had been classified into 2 types based on the presence (type 1) or absence (type 2) of characteristic hand anomalies, including an extra ossification center distal to the second metacarpal, delta phalanx, bifid distal thumb phalanx, and dislocation of the interphalangeal joints ({8:Faivre et al., 2004}). However, patients with and without these additional hand anomalies have been reported to have mutations in the same gene (see, e.g., CANT1); thus, these features are not distinctive criteria to predict the molecular basis of DBQD ({12:Furuichi et al., 2011}). In addition, {15:Kim et al. (2010)} described another milder variant of DBQD with almost normal outwardly appearing hands, but significant radiographic changes, including short metacarpals, elongated phalanges, and remarkably advanced carpal bone age. However, there is no accessory ossification center distal to the second metacarpal, and patients do not have thumb anomalies. Similar changes occur in the feet. These patients also tend to develop precocious osteoarthritis of the hand and spine with age. This phenotype is sometimes referred to as the 'Kim variant' of DBQD ({12:Furuichi et al., 2011}).\n\n<Subhead> Genetic Heterogeneity of Desbuquois Dysplasia\n\nDBQD2 (OMIM:615777) is caused by mutation in the XYLT1 gene (OMIM:608124) on chromosome 16p12.\n\nTwo unrelated patients with immunodeficiency-23 (IMD23; OMIM:615816), due to mutation in the PGM3 gene (OMIM:172100), were reported to have skeletal features reminiscent of DBQD."], "id_eng": "OMIM:251450", "definition_kw": ["See http://www.omim.org/entry/251450", "Desbuquois dysplasia (DBQD) is an autosomal recessive chondrodysplasia belonging to the multiple dislocation group and characterized by severe prenatal and postnatal growth retardation (stature less than -5 SD), joint laxity, short extremities, and progressive scoliosis. The main radiologic features are short long bones with metaphyseal splay, a 'Swedish key' appearance of the proximal femur (exaggerated trochanter), and advanced carpal and tarsal bone age with a delta phalanx (summary by {14:Huber et al., 2009}).\n\nDesbuquois dysplasia is clinically and radiographically heterogeneous, and had been classified into 2 types based on the presence (type 1) or absence (type 2) of characteristic hand anomalies, including an extra ossification center distal to the second metacarpal, delta phalanx, bifid distal thumb phalanx, and dislocation of the interphalangeal joints ({8:Faivre et al., 2004}). However, patients with and without these additional hand anomalies have been reported to have mutations in the same gene (see, e.g., CANT1); thus, these features are not distinctive criteria to predict the molecular basis of DBQD ({12:Furuichi et al., 2011}). In addition, {15:Kim et al. (2010)} described another milder variant of DBQD with almost normal outwardly appearing hands, but significant radiographic changes, including short metacarpals, elongated phalanges, and remarkably advanced carpal bone age. However, there is no accessory ossification center distal to the second metacarpal, and patients do not have thumb anomalies. Similar changes occur in the feet. These patients also tend to develop precocious osteoarthritis of the hand and spine with age. This phenotype is sometimes referred to as the 'Kim variant' of DBQD ({12:Furuichi et al., 2011}).\n\n<Subhead> Genetic Heterogeneity of Desbuquois Dysplasia\n\nDBQD2 (OMIM:615777) is caused by mutation in the XYLT1 gene (OMIM:608124) on chromosome 16p12.\n\nTwo unrelated patients with immunodeficiency-23 (IMD23; OMIM:615816), due to mutation in the PGM3 gene (OMIM:172100), were reported to have skeletal features reminiscent of DBQD."], "equivalent_iri_std": ["http://purl.obolibrary.org/obo/UMLS_C4012146"], "category_kw": ["disease"], "iri_eng": "http://purl.obolibrary.org/obo/OMIM_251450", "label_std": ["Desbuquois dysplasia 1", "Desbuquois Dysplasia 1"], "equivalent_curie": ["UMLS:C4012146"], "equivalent_curie_kw": ["UMLS:C4012146"], "synonym_eng": ["DESBUQUOIS DYSPLASIA 1; DBQD1", "Desbuquois Syndrome", "Micromelic Dwarfism With Vertebral and Metaphyseal Abnormalities and Advanced Carpotarsal Ossification", "Desbuquois Dysplasia, Kim Variant", "DBQD1", "Desbuquois Dysplasia type 1"], "score": 7.5173597, "id_kw": "OMIM:251450", "equivalent_iri_eng": ["http://purl.obolibrary.org/obo/UMLS_C4012146"], "label_kw": ["Desbuquois dysplasia 1", "Desbuquois Dysplasia 1"], "iri_kw": "http://purl.obolibrary.org/obo/OMIM_251450", "equivalent_iri": ["http://purl.obolibrary.org/obo/UMLS_C4012146"], "_version_": 1580845545002369024, "category_eng": ["disease"], "iri_std": "http://purl.obolibrary.org/obo/OMIM_251450", "id": "OMIM:251450", "definition": ["See http://www.omim.org/entry/251450", "Desbuquois dysplasia (DBQD) is an autosomal recessive chondrodysplasia belonging to the multiple dislocation group and characterized by severe prenatal and postnatal growth retardation (stature less than -5 SD), joint laxity, short extremities, and progressive scoliosis. The main radiologic features are short long bones with metaphyseal splay, a 'Swedish key' appearance of the proximal femur (exaggerated trochanter), and advanced carpal and tarsal bone age with a delta phalanx (summary by {14:Huber et al., 2009}).\n\nDesbuquois dysplasia is clinically and radiographically heterogeneous, and had been classified into 2 types based on the presence (type 1) or absence (type 2) of characteristic hand anomalies, including an extra ossification center distal to the second metacarpal, delta phalanx, bifid distal thumb phalanx, and dislocation of the interphalangeal joints ({8:Faivre et al., 2004}). However, patients with and without these additional hand anomalies have been reported to have mutations in the same gene (see, e.g., CANT1); thus, these features are not distinctive criteria to predict the molecular basis of DBQD ({12:Furuichi et al., 2011}). In addition, {15:Kim et al. (2010)} described another milder variant of DBQD with almost normal outwardly appearing hands, but significant radiographic changes, including short metacarpals, elongated phalanges, and remarkably advanced carpal bone age. However, there is no accessory ossification center distal to the second metacarpal, and patients do not have thumb anomalies. Similar changes occur in the feet. These patients also tend to develop precocious osteoarthritis of the hand and spine with age. This phenotype is sometimes referred to as the 'Kim variant' of DBQD ({12:Furuichi et al., 2011}).\n\n<Subhead> Genetic Heterogeneity of Desbuquois Dysplasia\n\nDBQD2 (OMIM:615777) is caused by mutation in the XYLT1 gene (OMIM:608124) on chromosome 16p12.\n\nTwo unrelated patients with immunodeficiency-23 (IMD23; OMIM:615816), due to mutation in the PGM3 gene (OMIM:172100), were reported to have skeletal features reminiscent of DBQD."], "synonym_kw": ["DESBUQUOIS DYSPLASIA 1; DBQD1", "Desbuquois Syndrome", "Micromelic Dwarfism With Vertebral and Metaphyseal Abnormalities and Advanced Carpotarsal Ossification", "Desbuquois Dysplasia, Kim Variant", "DBQD1", "Desbuquois Dysplasia type 1"], "synonym_std": ["DESBUQUOIS DYSPLASIA 1; DBQD1", "Desbuquois Syndrome", "Micromelic Dwarfism With Vertebral and Metaphyseal Abnormalities and Advanced Carpotarsal Ossification", "Desbuquois Dysplasia, Kim Variant", "DBQD1", "Desbuquois Dysplasia type 1"], "label": ["Desbuquois dysplasia 1", "Desbuquois Dysplasia 1"], "definition_eng": ["See http://www.omim.org/entry/251450", "Desbuquois dysplasia (DBQD) is an autosomal recessive chondrodysplasia belonging to the multiple dislocation group and characterized by severe prenatal and postnatal growth retardation (stature less than -5 SD), joint laxity, short extremities, and progressive scoliosis. The main radiologic features are short long bones with metaphyseal splay, a 'Swedish key' appearance of the proximal femur (exaggerated trochanter), and advanced carpal and tarsal bone age with a delta phalanx (summary by {14:Huber et al., 2009}).\n\nDesbuquois dysplasia is clinically and radiographically heterogeneous, and had been classified into 2 types based on the presence (type 1) or absence (type 2) of characteristic hand anomalies, including an extra ossification center distal to the second metacarpal, delta phalanx, bifid distal thumb phalanx, and dislocation of the interphalangeal joints ({8:Faivre et al., 2004}). However, patients with and without these additional hand anomalies have been reported to have mutations in the same gene (see, e.g., CANT1); thus, these features are not distinctive criteria to predict the molecular basis of DBQD ({12:Furuichi et al., 2011}). In addition, {15:Kim et al. (2010)} described another milder variant of DBQD with almost normal outwardly appearing hands, but significant radiographic changes, including short metacarpals, elongated phalanges, and remarkably advanced carpal bone age. However, there is no accessory ossification center distal to the second metacarpal, and patients do not have thumb anomalies. Similar changes occur in the feet. These patients also tend to develop precocious osteoarthritis of the hand and spine with age. This phenotype is sometimes referred to as the 'Kim variant' of DBQD ({12:Furuichi et al., 2011}).\n\n<Subhead> Genetic Heterogeneity of Desbuquois Dysplasia\n\nDBQD2 (OMIM:615777) is caused by mutation in the XYLT1 gene (OMIM:608124) on chromosome 16p12.\n\nTwo unrelated patients with immunodeficiency-23 (IMD23; OMIM:615816), due to mutation in the PGM3 gene (OMIM:172100), were reported to have skeletal features reminiscent of DBQD."], "equivalent_curie_std": ["UMLS:C4012146"], "category": ["disease"]}], "facet_counts": {"category": {"Phenotype": 124, "disease": 39}, "taxon_label": {}}, "pagination": {}}
author	nathandunn
date	Mon, 04 Dec 2017 21:50:52 -0500
parents	d40860663861
children