Mercurial > repos > nathandunn > biolinkmonarchinitiative
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--- /dev/null Thu Jan 01 00:00:00 1970 +0000 +++ b/LICENSE Wed Jun 21 18:42:56 2017 -0400 @@ -0,0 +1,29 @@ +BSD 3-Clause License + +Copyright (c) 2017, Nathan Dunn +All rights reserved. + +Redistribution and use in source and binary forms, with or without +modification, are permitted provided that the following conditions are met: + +* Redistributions of source code must retain the above copyright notice, this + list of conditions and the following disclaimer. + +* Redistributions in binary form must reproduce the above copyright notice, + this list of conditions and the following disclaimer in the documentation + and/or other materials provided with the distribution. + +* Neither the name of the copyright holder nor the names of its + contributors may be used to endorse or promote products derived from + this software without specific prior written permission. + +THIS SOFTWARE IS PROVIDED BY THE COPYRIGHT HOLDERS AND CONTRIBUTORS "AS IS" +AND ANY EXPRESS OR IMPLIED WARRANTIES, INCLUDING, BUT NOT LIMITED TO, THE +IMPLIED WARRANTIES OF MERCHANTABILITY AND FITNESS FOR A PARTICULAR PURPOSE ARE +DISCLAIMED. IN NO EVENT SHALL THE COPYRIGHT HOLDER OR CONTRIBUTORS BE LIABLE +FOR ANY DIRECT, INDIRECT, INCIDENTAL, SPECIAL, EXEMPLARY, OR CONSEQUENTIAL +DAMAGES (INCLUDING, BUT NOT LIMITED TO, PROCUREMENT OF SUBSTITUTE GOODS OR +SERVICES; LOSS OF USE, DATA, OR PROFITS; OR BUSINESS INTERRUPTION) HOWEVER +CAUSED AND ON ANY THEORY OF LIABILITY, WHETHER IN CONTRACT, STRICT LIABILITY, +OR TORT (INCLUDING NEGLIGENCE OR OTHERWISE) ARISING IN ANY WAY OUT OF THE USE +OF THIS SOFTWARE, EVEN IF ADVISED OF THE POSSIBILITY OF SUCH DAMAGE.
--- /dev/null Thu Jan 01 00:00:00 1970 +0000 +++ b/README.md Wed Jun 21 18:42:56 2017 -0400 @@ -0,0 +1,15 @@ +# Biolink-Monarch + +[](https://travis-ci.org/nathandunn/biolink-monarch) + +Wrapper around the [Monarch Iniatitive Biolink API](https://api.monarchinitiative.org/api/). + +The [Monarch Intiative](https://monarchinitiative.org/) is a warehouse that integrates, aligns, and re-distributes cross-species gene, genotype, variant, disease, and phenotype data using ontology associations. + +The [Biolink API](https://github.com/biolink/biolink-api) is an open API biologically and biomedically relevant entities, and the relationships between them. + + + + + +
--- /dev/null Thu Jan 01 00:00:00 1970 +0000 +++ b/associations.xml Wed Jun 21 18:42:56 2017 -0400 @@ -0,0 +1,62 @@ +<tool id="monarch-associations" name="Associations" version="0.1.0"> + <requirements/> + <stdio> + <exit_code range="1:"/> + </stdio> + <command><![CDATA[ + #if $type == 'find' + curl -X GET --header 'Accept: application/json' 'https://api.monarchinitiative.org/api/association/$type/?rows=$rows&fetch_objects=true&subject=$subject' > $output + #else if $type == 'from' + curl -X GET --header 'Accept: application/json' 'https://api.monarchinitiative.org/api/association/$type/$subject?rows=$rows&fetch_objects=true' > $output + #else if $type == 'to' + curl -X GET --header 'Accept: application/json' 'https://api.monarchinitiative.org/api/association/$type/$object?rows=$rows&fetch_objects=true' > $output + #else if $type == 'between' + curl -X GET --header 'Accept: application/json' 'https://api.monarchinitiative.org/api/association/$type/$subject/$object?rows=$rows&fetch_objects=true' > $output + #end if + ]]></command> + <inputs> + <param name="subject" type="text" format="txt" multiple="false" label="Subject"/> + <param name="object" type="text" format="txt" multiple="false" label="Object"/> + <param name="type" type="select" multiple="false" display="radio" label="Type"> + <option value="find">Find (subject)</option> + <option value="from">From (subject)</option> + <option value="to">To (object)</option> + <option value="between">Between (subject -> object)</option> + </param> + <param name="rows" type="text" format="txt" multiple="false" value="1000" label="Num Rows"/> + </inputs> + <outputs> + <data name="output" format="json"/> + </outputs> + <tests> + <test> + <param name="subject" value="NCBIGene:84570"/> + <param name="type" value="find"/> + <output name="output" file="find-associations-for-subject.json"/> + </test> + <test> + <param name="subject" value="NCBIGene:84570"/> + <param name="type" value="from"/> + <output name="output" file="from-associations-for-subject.json"/> + </test> + <test> + <param name="object" value="MP:0013765"/> + <param name="type" value="to"/> + <output name="output" file="to-associations-for-object.json"/> + </test> + <test> + <param name="subject" value="MGI:1342287"/> + <param name="object" value="MP:0013765"/> + <param name="type" value="between"/> + <output name="output" file="between-associations.json"/> + </test> + </tests> + <help><![CDATA[ + Pulls data from Monarch Initiative BioLink API web services as JSON. + https://api.monarchinitiative.org/api/ + ]]></help> + <citations> + <citation type="doi">doi:10.5281/zenodo.56412</citation> + </citations> +</tool> +
--- /dev/null Thu Jan 01 00:00:00 1970 +0000 +++ b/bioentity-associations.xml Wed Jun 21 18:42:56 2017 -0400 @@ -0,0 +1,30 @@ +<tool id="monarch-bioentity-associations" name="Bioentity Associations" version="0.1.0"> + <requirements/> + <stdio> + <exit_code range="1:" /> + </stdio> + <command><![CDATA[ +curl -X GET --header 'Accept: application/json' 'https://api.monarchinitiative.org/api/bioentity/$input/associations/?rows=$rows&fetch_objects=true' > $output + ]]></command> + <inputs> + <param name="input" type="text" format="txt" multiple="false" label="Bioentity ID (e.g. ZFIN:ZDB-ALT-010427-8)" /> + <param name="rows" type="text" format="txt" multiple="false" value="1000" label="Num Rows"/> + </inputs> + <outputs> + <data name="output" format="json" /> + </outputs> + <tests> + <test> + <param name="input" value="ZFIN:ZDB-ALT-010427-8"/> + <output name="output" file="associations-for-variant.json"/> + </test> + </tests> + <help><![CDATA[ + Pulls data from Monarch Initiative BioLink API web services as JSON. + https://api.monarchinitiative.org/api/ + ]]></help> + <citations> + <citation type="doi">doi:10.5281/zenodo.56412</citation> + </citations> +</tool> +
--- /dev/null Thu Jan 01 00:00:00 1970 +0000 +++ b/bulk-operations.xml Wed Jun 21 18:42:56 2017 -0400 @@ -0,0 +1,54 @@ +<tool id="monarch-bulk-operations" name="Bulk Operations" version="0.1.0"> + <requirements/> + <stdio> + <exit_code range="1:"/> + </stdio> + <command><![CDATA[ +curl -X GET --header 'Accept: application/json' 'https://api.monarchinitiative.org/api/mart/$association/$object_category/$taxon?rows=$rows&fetch_objects=true' > $output + ]]></command> + <inputs> + <param name="taxon" type="text" format="txt" multiple="false" label="Taxon (e.g. NCBITaxon:9606)"/> + <param name="object_category" type="text" format="txt" multiple="false" label="Object Category (e.g. phenotype, disease)"/> + <param name="association" type="select" multiple="false" display="radio" label="Type"> + <option value="gene">Gene</option> + <option value="disease">Disease</option> + <option value="case">Case</option> + </param> + <param name="rows" type="text" format="txt" multiple="false" value="1000" label="Num Rows"/> + </inputs> + <outputs> + <data name="output" format="json"/> + </outputs> + <tests> + <!--NOTE: these take way too long to run because fo the large amount of data involved--> + <!--<test>--> + <!--<param name="type" value="gene"/>--> + <!--<param name="taxon" value="NCBITaxon:9606"/>--> + <!--<param name="rows" value="1"/>--> + <!--<param name="object_category" value="phenotype"/>--> + <!--<output name="output" file="gene-mart-for-phenotype.json"/>--> + <!--</test>--> + <!--<test>--> + <!--<param name="type" value="disease"/>--> + <!--<param name="taxon" value="NCBITaxon:9606"/>--> + <!--<param name="rows" value="1"/>--> + <!--<param name="object_category" value="phenotype"/>--> + <!--<output name="output" file="disease-mart-for-phenotype.json"/>--> + <!--</test>--> + <!--<test>--> + <!--<param name="type" value="case"/>--> + <!--<param name="taxon" value="NCBITaxon:9606"/>--> + <!--<param name="rows" value="1"/>--> + <!--<param name="object_category" value="phenotype"/>--> + <!--<output name="output" file="case-mart-for-phenotype.json"/>--> + <!--</test>--> + </tests> + <help><![CDATA[ + Pulls data from Monarch Initiative BioLink API web services as JSON. + https://api.monarchinitiative.org/api/ + ]]></help> + <citations> + <citation type="doi">doi:10.5281/zenodo.56412</citation> + </citations> +</tool> +
--- /dev/null Thu Jan 01 00:00:00 1970 +0000 +++ b/disease-associations.xml Wed Jun 21 18:42:56 2017 -0400 @@ -0,0 +1,45 @@ +<tool id="monarch-disease-associations" name="Disease Associations" version="0.1.0"> + <requirements/> + <stdio> + <exit_code range="1:" /> + </stdio> + <command><![CDATA[ +curl -X GET --header 'Accept: application/json' 'https://api.monarchinitiative.org/api/bioentity/disease/$input/$association/?rows=$rows&fetch_objects=true' > $output + ]]></command> + <inputs> + <param name="input" type="text" format="txt" multiple="false" label="Disease (e.g. OMIM:605543, DOID:678)" /> + <param name="association" type="select" multiple="false" display="radio" label="Type"> + <option value="genes">Genes</option> + <option value="models">Models</option> + <option value="phenotypes">Phenotypes</option> + </param> + <param name="rows" type="text" format="txt" multiple="false" value="1000" label="Num Rows"/> + </inputs> + <outputs> + <data name="output" format="json" /> + </outputs> + <tests> + <test> + <param name="input" value="OMIM:605543"/> + <param name="association" value="genes"/> + <output name="output" file="genes-for-disease.json"/> + </test> + <test> + <param name="input" value="OMIM:605543"/> + <param name="association" value="models"/> + <output name="output" file="models-for-disease.json"/> + </test> + <test> + <param name="input" value="OMIM:605543"/> + <param name="association" value="phenotypes"/> + <output name="output" file="phenotypes-for-disease.json"/> + </test> + </tests> + <help><![CDATA[ + Pulls data from Monarch Initiative BioLink API web services as JSON. + https://api.monarchinitiative.org/api/ + ]]></help> + <citations> + <citation type="doi">doi:10.5281/zenodo.56412</citation> + </citations> +</tool>
--- /dev/null Thu Jan 01 00:00:00 1970 +0000 +++ b/gene-associations.xml Wed Jun 21 18:42:56 2017 -0400 @@ -0,0 +1,57 @@ +<tool id="monarch-genotype-associations" name="Genotype Associations" version="0.1.0"> + <requirements/> + <stdio> + <exit_code range="1:"/> + </stdio> + <command><![CDATA[ +curl -X GET --header 'Accept: application/json' 'https://api.monarchinitiative.org/api/bioentity/gene/$input/$association/?rows=$rows&fetch_objects=true' > $output + ]]></command> + <inputs> + <param name="input" type="text" format="txt" multiple="false" label="Gene"/> + <param name="association" type="select" multiple="false" display="radio" label="Type"> + <option value="diseases">Diseases (e.g,. NCBIGene:4750, Orphanet:173505)</option> + <option value="function">Function (e.g,. NCBIGene:4750, Orphanet:173505)</option> + <option value="homologs">Homologs (e.g,. NCBIGene:4750, Orphanet:173505)</option> + <option value="interactions">Interactions (e.g,. NCBIGene:4750, Orphanet:173505)</option> + <option value="phenotypes">Phenotypes (e.g,. NCBIGene:4750, Orphanet:173505)</option> + </param> + <param name="rows" type="text" format="txt" multiple="false" value="1000" label="Num Rows"/> + </inputs> + <outputs> + <data name="output" format="json"/> + </outputs> + <tests> + <test> + <param name="input" value="NCBIGene:4750"/> + <param name="association" value="diseases"/> + <output name="output" file="diseases-for-gene.json"/> + </test> + <test> + <param name="input" value="NCBIGene:4750"/> + <param name="association" value="function"/> + <output name="output" file="function-for-gene.json"/> + </test> + <test> + <param name="input" value="NCBIGene:4750"/> + <param name="association" value="homologs"/> + <output name="output" file="homologs-for-gene.json"/> + </test> + <test> + <param name="input" value="NCBIGene:4750"/> + <param name="association" value="interactions"/> + <output name="output" file="interactions-for-gene.json"/> + </test> + <test> + <param name="input" value="NCBIGene:4750"/> + <param name="association" value="phenotypes"/> + <output name="output" file="phenotypes-for-gene.json"/> + </test> + </tests> + <help><![CDATA[ + Pulls data from Monarch Initiative BioLink API web services as JSON. + https://api.monarchinitiative.org/api/ + ]]></help> + <citations> + <citation type="doi">doi:10.5281/zenodo.56412</citation> + </citations> +</tool>
--- /dev/null Thu Jan 01 00:00:00 1970 +0000 +++ b/genotype-associations.xml Wed Jun 21 18:42:56 2017 -0400 @@ -0,0 +1,51 @@ +<tool id="monarch-genotype-associations" name="Genotype Associations" version="0.1.0"> + <requirements/> + <stdio> + <exit_code range="1:" /> + </stdio> + <command><![CDATA[ +curl -X GET --header 'Accept: application/json' 'https://api.monarchinitiative.org/api/bioentity/genotype/$input/$association/?rows=$rows&fetch_objects=true' > $output + ]]></command> + <inputs> + <param name="input" type="text" format="txt" multiple="false" label="Genotype (e.g. ZFIN:ZDB-FISH-150901-4286)" /> + <param name="association" type="select" multiple="false" display="radio" label="Type"> + <option value="diseases">Diseases </option> + <option value="genes">Genes</option> + <option value="genotypes">Genotypes</option> + <option value="phenotypes">Phenotypes</option> + </param> + <param name="rows" type="text" format="txt" multiple="false" value="1000" label="Num Rows"/> + </inputs> + <outputs> + <data name="output" format="json" /> + </outputs> + <tests> + <test> + <param name="input" value="ZFIN:ZDB-FISH-150901-4286"/> + <param name="association" value="diseases"/> + <output name="output" file="diseases-for-genotype.json"/> + </test> + <test> + <param name="input" value="ZFIN:ZDB-FISH-150901-4286"/> + <param name="association" value="genes"/> + <output name="output" file="genes-for-genotype.json"/> + </test> + <test> + <param name="input" value="ZFIN:ZDB-FISH-150901-4286"/> + <param name="association" value="genotypes"/> + <output name="output" file="genotypes-for-genotype.json"/> + </test> + <test> + <param name="input" value="ZFIN:ZDB-FISH-150901-4286"/> + <param name="association" value="phenotypes"/> + <output name="output" file="phenotypes-for-genotype.json"/> + </test> + </tests> + <help><![CDATA[ + Pulls data from Monarch Initiative BioLink API web services as JSON. + https://api.monarchinitiative.org/api/ + ]]></help> + <citations> + <citation type="doi">doi:10.5281/zenodo.56412</citation> + </citations> +</tool>
--- /dev/null Thu Jan 01 00:00:00 1970 +0000 +++ b/get-object.xml Wed Jun 21 18:42:56 2017 -0400 @@ -0,0 +1,56 @@ +<tool id="monarch-get-object" name="Get Object" version="0.1.0"> + <requirements/> + <stdio> + <exit_code range="1:" /> + </stdio> + <command><![CDATA[ +curl -X GET --header 'Accept: application/json' 'https://api.monarchinitiative.org/api/bioentity/$type$input$associations?rows=$rows&fetch_objects=true' > $output + ]]></command> + <inputs> + <param name="input" type="text" format="txt" multiple="false" label="Object ID" /> + <param name="type" type="select" multiple="false" display="radio" label="Type"> + <option value="">Any</option> + <option value="gene/">Gene (e.g. NCBIGene:84570)</option> + <option value="genotype/">Genotype (e.g. ZFIN:ZDB-FISH-150901-6607)</option> + </param> + <param name="associations" type="select" multiple="false" display="radio" label="Render Associations"> + <option value="/associations/">True</option> + <option value="" checked="true">False</option> + </param> + <param name="rows" type="text" format="txt" multiple="false" value="1000" label="Num Rows"/> + </inputs> + <outputs> + <data name="output" format="json" /> + </outputs> + <tests> + <test> + <param name="input" value="OMIM:605543"/> + <param name="type" value=""/> + <output name="output" file="bioentity-object-for-disease.json"/> + </test> + <test> + <param name="input" value="OMIM:605543"/> + <param name="type" value=""/> + <param name="associations" value="/associations/"/> + <output name="output" file="bioentity-associations-for-disease.json"/> + </test> + <test> + <param name="input" value="NCBIGene:84570"/> + <param name="association" value="gene/"/> + <output name="output" file="bioentity-object-for-gene.json"/> + </test> + <test> + <param name="input" value="ZFIN:ZDB-FISH-150901-6607"/> + <param name="association" value="genotype/"/> + <output name="output" file="bioentity-object-for-genotype.json"/> + </test> + </tests> + <help><![CDATA[ + Pulls data from Monarch Initiative BioLink API web services as JSON. + https://api.monarchinitiative.org/api/ + ]]></help> + <citations> + <citation type="doi">doi:10.5281/zenodo.56412</citation> + </citations> +</tool> +
--- /dev/null Thu Jan 01 00:00:00 1970 +0000 +++ b/phenotype-gene-associations.xml Wed Jun 21 18:42:56 2017 -0400 @@ -0,0 +1,32 @@ +<tool id="monarch-phenotype-gene-associations" name="Phenotype Gene Associations" version="0.1.0"> + <requirements/> + <stdio> + <exit_code range="1:" /> + </stdio> + <command><![CDATA[ +curl -X GET --header 'Accept: application/json' 'https://api.monarchinitiative.org/api/bioentity/phenotype/$input/gene/$taxid/ids?rows=$rows&fetch_objects=true' > $output + ]]></command> + <inputs> + <param name="input" type="text" format="txt" multiple="false" label="Phenotype ID (e.g. MP:0001569)" /> + <param name="taxid" type="text" format="txt" multiple="false" label="Taxon ID (e.g. NCBITaxon:10090)" /> + <param name="rows" type="text" format="txt" multiple="false" value="1000" label="Num Rows"/> + </inputs> + <outputs> + <data name="output" format="json" /> + </outputs> + <tests> + <test> + <param name="input" value="MP:0001569"/> + <param name="taxid" value="NCBITaxon:10090"/> + <output name="output" file="phenotype-for-phenotype-and-taxon.json"/> + </test> + </tests> + <help><![CDATA[ + Pulls data from Monarch Initiative BioLink API web services as JSON. + https://api.monarchinitiative.org/api/ + ]]></help> + <citations> + <citation type="doi">doi:10.5281/zenodo.56412</citation> + </citations> +</tool> +
--- /dev/null Thu Jan 01 00:00:00 1970 +0000 +++ b/search-operations.xml Wed Jun 21 18:42:56 2017 -0400 @@ -0,0 +1,38 @@ +<tool id="monarch-search-operations" name="Search Operations" version="0.1.0"> + <requirements/> + <stdio> + <exit_code range="1:" /> + </stdio> + <command><![CDATA[ +curl -X GET --header 'Accept: application/json' 'https://api.monarchinitiative.org/api/search/entity/$input?rows=$rows&fetch_objects=true' > $output + ]]></command> + <inputs> + <param name="input" type="text" format="txt" multiple="false" label="Search Term (e.g. shh, parkinson, femur)" /> + <param name="rows" type="text" format="txt" multiple="false" value="1000" label="Num Rows"/> + </inputs> + <outputs> + <data name="output" format="json" /> + </outputs> + <tests> + <test> + <param name="input" value="ssh"/> + <output name="output" file="ssh-search-term.json"/> + </test> + <test> + <param name="input" value="parkinson"/> + <output name="output" file="parkinson-search-term.json"/> + </test> + <test> + <param name="input" value="femur"/> + <output name="output" file="femur-search-term.json"/> + </test> + </tests> + <help><![CDATA[ + Pulls data from Monarch Initiative BioLink API web services as JSON. + https://api.monarchinitiative.org/api/ + ]]></help> + <citations> + <citation type="doi">doi:10.5281/zenodo.56412</citation> + </citations> +</tool> +
--- /dev/null Thu Jan 01 00:00:00 1970 +0000 +++ b/substance-associations.xml Wed Jun 21 18:42:56 2017 -0400 @@ -0,0 +1,47 @@ +<tool id="monarch-substance-associations" name="Substance Associations" version="0.1.0"> + <requirements/> + <stdio> + <exit_code range="1:" /> + </stdio> + <command><![CDATA[ +curl -X GET --header 'Accept: application/json' 'https://api.monarchinitiative.org/api/bioentity/substance/$input/$association/?rows=$rows&fetch_objects=true' > $output + ]]></command> + <inputs> + <param name="input" type="text" format="txt" multiple="false" label="Substance (e.g. CHEBI:40036)" /> + <param name="association" type="select" multiple="false" display="radio" label="Type"> + <option value="participant_in">Participant In</option> + <option value="roles">Roles</option> + <!--<option value="treats">Treats</option>--> + </param> + <param name="rows" type="text" format="txt" multiple="false" value="1000" label="Num Rows"/> + </inputs> + <outputs> + <data name="output" format="json" /> + </outputs> + <tests> + <test> + <param name="input" value="CHEBI:40036"/> + <param name="association" value="participant_in"/> + <output name="output" file="participatant_in-for-substance.json"/> + </test> + <test> + <param name="input" value="CHEBI:40036"/> + <param name="association" value="roles"/> + <output name="output" file="roles-for-substance.json"/> + </test> + <!--seems to break--> + <!--<test>--> + <!--<param name="input" value="CHEBI:40036"/>--> + <!--<param name="association" value="treats"/>--> + <!--<output name="output" file="treats-for-substance.json"/>--> + <!--</test>--> + </tests> + <help><![CDATA[ + Pulls data from Monarch Initiative BioLink API web services as JSON. + https://api.monarchinitiative.org/api/ + ]]></help> + <citations> + <citation type="doi">doi:10.5281/zenodo.56412</citation> + </citations> +</tool> +
--- /dev/null Thu Jan 01 00:00:00 1970 +0000 +++ b/test-data/associations-for-variant.json Wed Jun 21 18:42:56 2017 -0400 @@ -0,0 +1,1 @@ +{"associations": [{"subject_extension": null, "slim": null, "publications": null, "object": {"xrefs": null, "taxon": {"label": "Danio rerio", "id": "NCBITaxon:7955"}, "types": null, "categories": null, "replaced_by": null, "synonyms": null, "label": "fgf8a<ti282a>/fgf8a<ti282a>; shha<tbx392>/shha<tbx392> [n.s.]", "deprecated": null, "id": "ZFIN:ZDB-FISH-150901-25704", "description": null, "consider": null}, "id": "3fe46d0c-e666-48fd-a95e-7b3591d40f57", "type": null, "evidence_graph": {"nodes": [{"lbl": "tbx392", "id": "ZFIN:ZDB-ALT-010427-8"}, {"lbl": "fgf8a<ti282a>/fgf8a<ti282a>; shha<tbx392>/shha<tbx392>", "id": ":.well-known/genid/ZDB-GENE-980526-166-ZDB-ALT-010427-8-ZDB-ALT-010427-8-_ZDB-GENE-990415-72-ZDB-ALT-980203-1091-ZDB-ALT-980203-1091"}, {"lbl": "shha<tbx392>", "id": ":.well-known/genid/ZDB-GENE-980526-166-ZDB-ALT-010427-8"}, {"lbl": 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Axial skeleton, internal organs and intellectual function are usually normal."], "equivalent_curie_eng": ["Orphanet:2019", "MESH:C537918", "UMLS:C1856790"], "label": ["Femur-fibula-ulna complex"], "label_std": ["Femur-fibula-ulna complex"], "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_std": ["FFU complex", "Femur-fibula-ulna dysostosis", "Femur-fibula-ulna syndrome", "Femur-Fibula-Ulna Syndrome", "FEMUR-FIBULA-ULNA SYNDROME", "Ffu Syndrome"], "equivalent_curie": ["Orphanet:2019", "MESH:C537918", "UMLS:C1856790"]}, {"equivalent_iri_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"], "synonym_kw": ["increased femur bone marrow cavity diameter", "increased femur medullary cavity diameter", "increased endosteal diameter of femur", "increased inner diameter of femur"], "equivalent_iri_std": ["_:66f50255329c2365fd2d32268285f647"], "iri": "http://purl.obolibrary.org/obo/MP_0013620", "_version_": 1564147997270343681, "label_eng": ["increased internal diameter of femur"], "equivalent_iri_eng": ["_:66f50255329c2365fd2d32268285f647"], "iri_kw": "http://purl.obolibrary.org/obo/MP_0013620", "iri_eng": "http://purl.obolibrary.org/obo/MP_0013620", "category_kw": ["Phenotype"], "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"], "category_eng": ["Phenotype"], "equivalent_curie_kw": ["_:66f50255329c2365fd2d32268285f647"], "label_kw": ["increased internal diameter of femur"], "synonym": ["increased femur bone marrow cavity diameter", "increased femur medullary cavity diameter", "increased endosteal diameter of femur", "increased inner diameter of femur"], "score": 36.69678, "id_std": "MP:0013620", "equivalent_curie_std": ["_:66f50255329c2365fd2d32268285f647"], "id": "MP:0013620", "equivalent_iri": ["_:66f50255329c2365fd2d32268285f647"], "iri_std": "http://purl.obolibrary.org/obo/MP_0013620", "id_kw": "MP:0013620", "leaf": true, "category": ["Phenotype"], "category_std": ["Phenotype"], "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_eng": ["_:66f50255329c2365fd2d32268285f647"], "label": ["increased internal diameter of femur"], "label_std": ["increased internal diameter of femur"], "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_std": ["increased femur bone marrow cavity diameter", "increased femur medullary cavity diameter", "increased endosteal diameter of femur", "increased inner diameter of femur"], "equivalent_curie": ["_:66f50255329c2365fd2d32268285f647"]}, {"equivalent_iri_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"], "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"], "equivalent_iri_std": ["_:e04672a47778e9c2c919870ceaa00939"], "iri": "http://purl.obolibrary.org/obo/MP_0013624", "_version_": 1564147997268246528, "label_eng": ["decreased femur compact bone thickness"], "equivalent_iri_eng": ["_:e04672a47778e9c2c919870ceaa00939"], "iri_kw": "http://purl.obolibrary.org/obo/MP_0013624", "iri_eng": "http://purl.obolibrary.org/obo/MP_0013624", "category_kw": ["Phenotype"], "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"], "category_eng": ["Phenotype"], "equivalent_curie_kw": ["_:e04672a47778e9c2c919870ceaa00939"], "label_kw": ["decreased femur compact bone thickness"], "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"], "score": 36.45761, "id_std": "MP:0013624", "equivalent_curie_std": ["_:e04672a47778e9c2c919870ceaa00939"], "id": "MP:0013624", "equivalent_iri": ["_:e04672a47778e9c2c919870ceaa00939"], "iri_std": "http://purl.obolibrary.org/obo/MP_0013624", "id_kw": "MP:0013624", "leaf": true, "category": ["Phenotype"], "category_std": ["Phenotype"], "definition_eng": ["reduced width of the superficial layer of compact bone at the midpoint of the femur"], "equivalent_curie_eng": ["_:e04672a47778e9c2c919870ceaa00939"], "label": ["decreased femur compact bone thickness"], "label_std": ["decreased femur compact bone thickness"], "definition": ["reduced width of the superficial layer of compact bone at the midpoint of the femur"], "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"], "equivalent_curie": ["_:e04672a47778e9c2c919870ceaa00939"]}, {"equivalent_iri_kw": ["_:c78516af691e86259d42ed6eaa7a2eec"], "synonym_eng": ["abnormal femur dense bone thickness", "abnormal femur lamellar bone thickness", "abnormal femur cortical bone morphology thickness"], "synonym_kw": ["abnormal femur dense bone thickness", "abnormal femur lamellar bone thickness", "abnormal femur cortical bone morphology thickness"], "equivalent_iri_std": ["_:c78516af691e86259d42ed6eaa7a2eec"], "iri": "http://purl.obolibrary.org/obo/MP_0013622", "_version_": 1564147997269295104, "label_eng": ["abnormal femur compact bone thickness"], "equivalent_iri_eng": ["_:c78516af691e86259d42ed6eaa7a2eec"], "iri_kw": "http://purl.obolibrary.org/obo/MP_0013622", "iri_eng": "http://purl.obolibrary.org/obo/MP_0013622", "category_kw": ["Phenotype"], "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"], "category_eng": ["Phenotype"], "equivalent_curie_kw": ["_:c78516af691e86259d42ed6eaa7a2eec"], "label_kw": ["abnormal femur compact bone thickness"], "synonym": ["abnormal femur dense bone thickness", "abnormal femur lamellar bone thickness", "abnormal femur cortical bone morphology thickness"], "score": 35.870434, "id_std": "MP:0013622", "equivalent_curie_std": ["_:c78516af691e86259d42ed6eaa7a2eec"], "id": "MP:0013622", "equivalent_iri": ["_:c78516af691e86259d42ed6eaa7a2eec"], "iri_std": "http://purl.obolibrary.org/obo/MP_0013622", "id_kw": "MP:0013622", "leaf": false, "category": ["Phenotype"], "category_std": ["Phenotype"], "definition_eng": ["reduced or increased width of the superficial layer of compact bone at the midpoint of the femur"], "equivalent_curie_eng": ["_:c78516af691e86259d42ed6eaa7a2eec"], "label": ["abnormal femur compact bone thickness"], "label_std": ["abnormal femur compact bone thickness"], "definition": ["reduced or increased width of the superficial layer of compact bone at the midpoint of the femur"], "synonym_std": ["abnormal femur dense bone thickness", "abnormal femur lamellar bone thickness", "abnormal femur cortical bone morphology thickness"], "equivalent_curie": ["_:c78516af691e86259d42ed6eaa7a2eec"]}, {"equivalent_iri_kw": ["_:f0e06f2cd0f2a8bb46c09eb9b2bef9d7"], "synonym_eng": ["increased femur dense bone thickness", "increased femur lamellar bone thickness", "increased femur cortical bone morphology thickness"], "synonym_kw": ["increased femur dense bone thickness", "increased femur lamellar bone thickness", "increased femur cortical bone morphology thickness"], "equivalent_iri_std": ["_:f0e06f2cd0f2a8bb46c09eb9b2bef9d7"], "iri": "http://purl.obolibrary.org/obo/MP_0013623", "_version_": 1564147997354229760, "label_eng": ["increased femur compact bone thickness"], "equivalent_iri_eng": ["_:f0e06f2cd0f2a8bb46c09eb9b2bef9d7"], "iri_kw": "http://purl.obolibrary.org/obo/MP_0013623", "iri_eng": "http://purl.obolibrary.org/obo/MP_0013623", "category_kw": ["Phenotype"], "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"], "category_eng": ["Phenotype"], "equivalent_curie_kw": ["_:f0e06f2cd0f2a8bb46c09eb9b2bef9d7"], "label_kw": ["increased femur compact bone thickness"], "synonym": ["increased femur dense bone thickness", "increased femur lamellar bone thickness", "increased femur cortical bone morphology thickness"], "score": 35.870434, "id_std": "MP:0013623", "equivalent_curie_std": ["_:f0e06f2cd0f2a8bb46c09eb9b2bef9d7"], "id": "MP:0013623", "equivalent_iri": ["_:f0e06f2cd0f2a8bb46c09eb9b2bef9d7"], "iri_std": "http://purl.obolibrary.org/obo/MP_0013623", "id_kw": "MP:0013623", "leaf": true, "category": ["Phenotype"], "category_std": ["Phenotype"], "definition_eng": ["increased width of the superficial layer of compact bone at the midpoint of the femur"], "equivalent_curie_eng": ["_:f0e06f2cd0f2a8bb46c09eb9b2bef9d7"], "label": ["increased femur compact bone thickness"], "label_std": ["increased femur compact bone thickness"], "definition": ["increased width of the superficial layer of compact bone at the midpoint of the femur"], "synonym_std": ["increased femur dense bone thickness", "increased femur lamellar bone thickness", "increased femur cortical bone morphology thickness"], "equivalent_curie": ["_:f0e06f2cd0f2a8bb46c09eb9b2bef9d7"]}, {"synonym_eng": ["decreased BMD of femur", "decreased femur bone mineral density"], "synonym_kw": ["decreased BMD of femur", "decreased femur bone mineral density"], "iri": "http://purl.obolibrary.org/obo/MP_0020010", "label_eng": ["decreased bone mineral density of femur"], "iri_kw": "http://purl.obolibrary.org/obo/MP_0020010", "iri_eng": "http://purl.obolibrary.org/obo/MP_0020010", "category_kw": ["Phenotype"], "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_eng": ["Phenotype"], "_version_": 1564147991313383424, "label_kw": ["decreased bone mineral density of femur"], "synonym": ["decreased BMD of femur", "decreased femur bone mineral density"], "score": 34.56564, "id_std": "MP:0020010", "id": "MP:0020010", "iri_std": "http://purl.obolibrary.org/obo/MP_0020010", "id_kw": "MP:0020010", "leaf": true, "category": ["Phenotype"], "category_std": ["Phenotype"], "definition_eng": ["reduction in the quatitative measurment value of mineral content of bone in the long bone of the thigh"], "label": ["decreased bone mineral density of femur"], "label_std": ["decreased bone mineral density of femur"], "definition": ["reduction in the quatitative measurment value of mineral content of bone in the long bone of the thigh"], "synonym_std": ["decreased BMD of femur", "decreased femur bone mineral density"]}, {"synonym_eng": ["abnormal BMD of femur", "abnormal femur bone mineral density"], "synonym_kw": ["abnormal BMD of femur", "abnormal femur bone mineral density"], "iri": "http://purl.obolibrary.org/obo/MP_0020009", "label_eng": ["abnormal bone mineral density of femur"], "iri_kw": "http://purl.obolibrary.org/obo/MP_0020009", "iri_eng": "http://purl.obolibrary.org/obo/MP_0020009", "category_kw": ["Phenotype"], "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_eng": ["Phenotype"], "_version_": 1564147991315480578, "label_kw": ["abnormal bone mineral density of femur"], "synonym": ["abnormal BMD of femur", "abnormal femur bone mineral density"], "score": 34.56564, "id_std": "MP:0020009", "id": "MP:0020009", "iri_std": "http://purl.obolibrary.org/obo/MP_0020009", "id_kw": "MP:0020009", "leaf": false, "category": ["Phenotype"], "category_std": ["Phenotype"], "definition_eng": ["anomaly in the quatitative measurment of mineral content of bone in the long bone of the thigh"], "label": ["abnormal bone mineral density of femur"], "label_std": ["abnormal bone mineral density of femur"], "definition": ["anomaly in the quatitative measurment of mineral content of bone in the long bone of the thigh"], "synonym_std": ["abnormal BMD of femur", "abnormal femur bone mineral density"]}, {"equivalent_iri_kw": ["http://www.orpha.net/ORDO/Orphanet_1986", "http://purl.obolibrary.org/obo/UMLS_C1856789"], "synonym_eng": ["FEMUR, UNILATERAL BIFID, WITH MONODACTYLOUS ECTRODACTYLY", "Gollop-Wolfgang Complex", "Bifid femur-monodactylous ectrodactyly syndrome"], "synonym_kw": ["FEMUR, UNILATERAL BIFID, WITH MONODACTYLOUS ECTRODACTYLY", "Gollop-Wolfgang Complex", "Bifid femur-monodactylous ectrodactyly syndrome"], "iri": "http://purl.obolibrary.org/obo/OMIM_228250", "_version_": 1564147994405634052, "label_eng": ["Gollop-Wolfgang complex"], "equivalent_iri_eng": ["http://www.orpha.net/ORDO/Orphanet_1986", "http://purl.obolibrary.org/obo/UMLS_C1856789"], "iri_kw": "http://purl.obolibrary.org/obo/OMIM_228250", "iri_eng": "http://purl.obolibrary.org/obo/OMIM_228250", "category_kw": ["disease"], "id_eng": "OMIM:228250", "equivalent_iri_std": ["http://www.orpha.net/ORDO/Orphanet_1986", "http://purl.obolibrary.org/obo/UMLS_C1856789"], "category_eng": ["disease"], "equivalent_curie_kw": ["Orphanet:1986", "UMLS:C1856789"], "label_kw": ["Gollop-Wolfgang complex"], "synonym": ["FEMUR, UNILATERAL BIFID, WITH MONODACTYLOUS ECTRODACTYLY", "Gollop-Wolfgang Complex", "Bifid femur-monodactylous ectrodactyly syndrome"], "score": 33.01635, "id_std": "OMIM:228250", "equivalent_curie_std": ["Orphanet:1986", "UMLS:C1856789"], "id": "OMIM:228250", "equivalent_iri": ["http://www.orpha.net/ORDO/Orphanet_1986", "http://purl.obolibrary.org/obo/UMLS_C1856789"], "iri_std": "http://purl.obolibrary.org/obo/OMIM_228250", "id_kw": "OMIM:228250", "leaf": true, "category": ["disease"], "category_std": ["disease"], "equivalent_curie_eng": ["Orphanet:1986", "UMLS:C1856789"], "label": ["Gollop-Wolfgang complex"], "label_std": ["Gollop-Wolfgang complex"], "synonym_std": ["FEMUR, UNILATERAL BIFID, WITH MONODACTYLOUS ECTRODACTYLY", "Gollop-Wolfgang Complex", "Bifid femur-monodactylous ectrodactyly syndrome"], "equivalent_curie": ["Orphanet:1986", "UMLS:C1856789"]}, {"equivalent_iri_kw": ["_:7ce463374fd6f9921a608bd4d136cb7c"], "synonym_eng": ["femur dysplasia"], "synonym_kw": ["femur dysplasia"], "equivalent_iri_std": ["_:7ce463374fd6f9921a608bd4d136cb7c"], "iri": "http://purl.obolibrary.org/obo/MP_0000559", "_version_": 1564148003820797952, "label_eng": ["abnormal femur morphology"], "equivalent_iri_eng": ["_:7ce463374fd6f9921a608bd4d136cb7c"], "iri_kw": "http://purl.obolibrary.org/obo/MP_0000559", "iri_eng": "http://purl.obolibrary.org/obo/MP_0000559", "category_kw": ["Phenotype"], "definition_std": ["any structural anomaly of the long bone of the thigh"], "id_eng": "MP:0000559", "definition_kw": ["any structural anomaly of the long bone of the thigh"], "category_eng": ["Phenotype"], "equivalent_curie_kw": ["_:7ce463374fd6f9921a608bd4d136cb7c"], "label_kw": ["abnormal femur morphology"], "synonym": ["femur dysplasia"], "score": 32.069275, "id_std": "MP:0000559", "equivalent_curie_std": ["_:7ce463374fd6f9921a608bd4d136cb7c"], "id": "MP:0000559", "equivalent_iri": ["_:7ce463374fd6f9921a608bd4d136cb7c"], "iri_std": "http://purl.obolibrary.org/obo/MP_0000559", "id_kw": "MP:0000559", "leaf": false, "category": ["Phenotype"], "category_std": ["Phenotype"], "definition_eng": ["any structural anomaly of the long bone of the thigh"], "equivalent_curie_eng": ["_:7ce463374fd6f9921a608bd4d136cb7c"], "label": ["abnormal femur morphology"], "label_std": ["abnormal femur morphology"], "definition": ["any structural anomaly of the long bone of the thigh"], "synonym_std": ["femur dysplasia"], "equivalent_curie": ["_:7ce463374fd6f9921a608bd4d136cb7c"]}, {"equivalent_iri_kw": ["_:1ee8aa2c3fa589befb9f65f7feae82fa"], "synonym_eng": ["increased femur length"], "synonym_kw": ["increased femur length"], "equivalent_iri_std": ["_:1ee8aa2c3fa589befb9f65f7feae82fa"], "iri": "http://purl.obolibrary.org/obo/MP_0004348", "_version_": 1564148008713453569, "label_eng": ["long femur"], "equivalent_iri_eng": ["_:1ee8aa2c3fa589befb9f65f7feae82fa"], "iri_kw": "http://purl.obolibrary.org/obo/MP_0004348", "iri_eng": "http://purl.obolibrary.org/obo/MP_0004348", "category_kw": ["Phenotype"], "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"], "category_eng": ["Phenotype"], "equivalent_curie_kw": ["_:1ee8aa2c3fa589befb9f65f7feae82fa"], "label_kw": ["long femur"], "synonym": ["increased femur length"], "score": 31.386066, "id_std": "MP:0004348", "equivalent_curie_std": ["_:1ee8aa2c3fa589befb9f65f7feae82fa"], "id": "MP:0004348", "equivalent_iri": ["_:1ee8aa2c3fa589befb9f65f7feae82fa"], "iri_std": "http://purl.obolibrary.org/obo/MP_0004348", "id_kw": "MP:0004348", "leaf": false, "category": ["Phenotype"], "category_std": ["Phenotype"], "definition_eng": ["increased length of the long bone of the thigh"], "equivalent_curie_eng": ["_:1ee8aa2c3fa589befb9f65f7feae82fa"], "label": ["long femur"], "label_std": ["long femur"], "definition": ["increased length of the long bone of the thigh"], "synonym_std": ["increased femur length"], "equivalent_curie": ["_:1ee8aa2c3fa589befb9f65f7feae82fa"]}, {"equivalent_iri_kw": ["http://purl.obolibrary.org/obo/MP_0004349"], "synonym_eng": ["Absent femur", "Absent thighbone"], "synonym_kw": ["Absent femur", "Absent thighbone"], "equivalent_iri_std": ["http://purl.obolibrary.org/obo/MP_0004349"], "iri": "http://purl.obolibrary.org/obo/HP_0012744", "_version_": 1564148003080503296, "label_eng": ["Femoral aplasia"], "equivalent_iri_eng": ["http://purl.obolibrary.org/obo/MP_0004349"], "iri_kw": "http://purl.obolibrary.org/obo/HP_0012744", "iri_eng": "http://purl.obolibrary.org/obo/HP_0012744", "category_kw": ["Phenotype"], "definition_std": ["Failure of the femur to develop."], "id_eng": "HP:0012744", "definition_kw": ["Failure of the femur to develop."], "category_eng": ["Phenotype"], "equivalent_curie_kw": ["MP:0004349"], "label_kw": ["Femoral aplasia"], "synonym": ["Absent femur", "Absent thighbone"], "score": 31.386066, "id_std": "HP:0012744", "equivalent_curie_std": ["MP:0004349"], "id": "HP:0012744", "equivalent_iri": ["http://purl.obolibrary.org/obo/MP_0004349"], "iri_std": "http://purl.obolibrary.org/obo/HP_0012744", "id_kw": "HP:0012744", "leaf": true, "category": ["Phenotype"], "category_std": ["Phenotype"], "definition_eng": ["Failure of the femur to develop."], "equivalent_curie_eng": ["MP:0004349"], "label": ["Femoral aplasia"], "label_std": ["Femoral aplasia"], "definition": ["Failure of the femur to develop."], "synonym_std": ["Absent femur", "Absent thighbone"], "equivalent_curie": ["MP:0004349"]}, {"synonym_eng": ["Femoral head epiphysiolysis", "Epiphysiolysis of the upper femur"], "synonym_kw": ["Femoral head epiphysiolysis", "Epiphysiolysis of the upper femur"], "iri": "http://www.orpha.net/ORDO/Orphanet_399329", "label_eng": ["Epiphysiolysis of the hip"], "iri_kw": "http://www.orpha.net/ORDO/Orphanet_399329", "iri_eng": "http://www.orpha.net/ORDO/Orphanet_399329", "category_kw": ["disease"], "id_eng": "Orphanet:399329", "leaf": true, "category_eng": ["disease"], "label_kw": ["Epiphysiolysis of the hip"], "synonym": ["Femoral head epiphysiolysis", "Epiphysiolysis of the upper femur"], "score": 30.00501, "id_std": "Orphanet:399329", "id": "Orphanet:399329", "iri_std": "http://www.orpha.net/ORDO/Orphanet_399329", "id_kw": "Orphanet:399329", "_version_": 1564147997356326912, "category": ["disease"], "category_std": ["disease"], "label": ["Epiphysiolysis of the hip"], "label_std": ["Epiphysiolysis of the hip"], "synonym_std": ["Femoral head epiphysiolysis", "Epiphysiolysis of the upper femur"]}, {"synonym_eng": ["Femoral intercalary meromelia", "Congenital short femur"], "synonym_kw": ["Femoral intercalary meromelia", "Congenital short femur"], "iri": "http://www.orpha.net/ORDO/Orphanet_1987", "label_eng": ["Femoral agenesis/hypoplasia"], "iri_kw": "http://www.orpha.net/ORDO/Orphanet_1987", "iri_eng": "http://www.orpha.net/ORDO/Orphanet_1987", "category_kw": ["disease"], "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_eng": ["disease"], "_version_": 1564147988597571587, "label_kw": ["Femoral agenesis/hypoplasia"], "synonym": ["Femoral intercalary meromelia", "Congenital short femur"], "score": 30.00501, "id_std": "Orphanet:1987", "id": "Orphanet:1987", "iri_std": "http://www.orpha.net/ORDO/Orphanet_1987", "id_kw": "Orphanet:1987", "leaf": false, "category": ["disease"], "category_std": ["disease"], "definition_eng": ["Congenital short femur is a rare malformation of variable severity ranging from mild hypoplasia to complete absence of the femur."], "label": ["Femoral agenesis/hypoplasia"], "label_std": ["Femoral agenesis/hypoplasia"], "definition": ["Congenital short femur is a rare malformation of variable severity ranging from mild hypoplasia to complete absence of the femur."], "synonym_std": ["Femoral intercalary meromelia", "Congenital short femur"]}, {"equivalent_iri_kw": ["http://purl.obolibrary.org/obo/MESH_D005266"], "synonym_eng": ["femoral neoplasm", "neoplasm of femur", "Neoplasm, Femoral", "Femoral Neoplasm", "Neoplasms, Femoral"], "synonym_kw": ["femoral neoplasm", "neoplasm of femur", "Neoplasm, Femoral", "Femoral Neoplasm", "Neoplasms, Femoral"], "equivalent_iri_std": ["http://purl.obolibrary.org/obo/MESH_D005266"], "iri": "http://purl.obolibrary.org/obo/DOID_5546", "_version_": 1564147976880783360, "label_eng": ["femoral cancer"], "equivalent_iri_eng": ["http://purl.obolibrary.org/obo/MESH_D005266"], "iri_kw": "http://purl.obolibrary.org/obo/DOID_5546", "iri_eng": "http://purl.obolibrary.org/obo/DOID_5546", "category_kw": ["disease"], "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."], "category_eng": ["disease"], "equivalent_curie_kw": ["MESH:D005266"], "label_kw": ["femoral cancer"], "synonym": ["femoral neoplasm", "neoplasm of femur", "Neoplasm, Femoral", "Femoral Neoplasm", "Neoplasms, Femoral"], "score": 28.73345, "id_std": "DOID:5546", "equivalent_curie_std": ["MESH:D005266"], "id": "DOID:5546", "equivalent_iri": ["http://purl.obolibrary.org/obo/MESH_D005266"], "iri_std": "http://purl.obolibrary.org/obo/DOID_5546", "id_kw": "DOID:5546", "leaf": true, "category": ["disease"], "category_std": ["disease"], "definition_eng": ["A bone cancer that is located_in the femur."], "equivalent_curie_eng": ["MESH:D005266"], "label": ["femoral cancer"], "label_std": ["femoral cancer"], "definition": ["A bone cancer that is located_in the femur."], "synonym_std": ["femoral neoplasm", "neoplasm of femur", "Neoplasm, Femoral", "Femoral Neoplasm", "Neoplasms, Femoral"], "equivalent_curie": ["MESH:D005266"]}, {"equivalent_iri_kw": ["http://purl.obolibrary.org/obo/MP_0003109", "_:f0ee42c9830c2c97d967bf3ff736e51c"], "synonym_eng": ["Hypoplasia of the femora", "Femoral hypoplasia", "Short thighbone", "Short femurs"], "synonym_kw": ["Hypoplasia of the femora", "Femoral hypoplasia", "Short thighbone", "Short femurs"], "equivalent_iri_std": ["http://purl.obolibrary.org/obo/MP_0003109", "_:f0ee42c9830c2c97d967bf3ff736e51c"], "iri": "http://purl.obolibrary.org/obo/HP_0003097", "_version_": 1564148007872495617, "label_eng": ["Short femur"], "equivalent_iri_eng": ["http://purl.obolibrary.org/obo/MP_0003109", "_:f0ee42c9830c2c97d967bf3ff736e51c"], "iri_kw": "http://purl.obolibrary.org/obo/HP_0003097", "iri_eng": "http://purl.obolibrary.org/obo/HP_0003097", "category_kw": ["Phenotype"], "definition_std": ["An abnormal shortening of the femur."], "id_eng": "HP:0003097", "definition_kw": ["An abnormal shortening of the femur."], "category_eng": ["Phenotype"], "equivalent_curie_kw": ["MP:0003109", "_:f0ee42c9830c2c97d967bf3ff736e51c"], "label_kw": ["Short femur"], "synonym": ["Hypoplasia of the femora", "Femoral hypoplasia", "Short thighbone", "Short femurs"], "score": 28.73345, "id_std": "HP:0003097", "equivalent_curie_std": ["MP:0003109", "_:f0ee42c9830c2c97d967bf3ff736e51c"], "id": "HP:0003097", "equivalent_iri": ["http://purl.obolibrary.org/obo/MP_0003109", "_:f0ee42c9830c2c97d967bf3ff736e51c"], "iri_std": "http://purl.obolibrary.org/obo/HP_0003097", "id_kw": "HP:0003097", "leaf": false, "category": ["Phenotype"], "category_std": ["Phenotype"], "definition_eng": ["An abnormal shortening of the femur."], "equivalent_curie_eng": ["MP:0003109", "_:f0ee42c9830c2c97d967bf3ff736e51c"], "label": ["Short femur"], "label_std": ["Short femur"], "definition": ["An abnormal shortening of the femur."], "synonym_std": ["Hypoplasia of the femora", "Femoral hypoplasia", "Short thighbone", "Short femurs"], "equivalent_curie": ["MP:0003109", "_:f0ee42c9830c2c97d967bf3ff736e51c"]}, {"equivalent_iri_kw": ["_:79902d1fc95cfe1a147c6288abbcae85"], "synonym_eng": ["Wide distal metaphysis of femur", "Broad outermost wide portion of thighbone"], "synonym_kw": ["Wide distal metaphysis of femur", "Broad outermost wide portion of thighbone"], "equivalent_iri_std": ["_:79902d1fc95cfe1a147c6288abbcae85"], "iri": "http://purl.obolibrary.org/obo/HP_0006387", "_version_": 1564148010274783234, "label_eng": ["Wide distal femoral metaphysis"], "equivalent_iri_eng": ["_:79902d1fc95cfe1a147c6288abbcae85"], "iri_kw": "http://purl.obolibrary.org/obo/HP_0006387", "iri_eng": "http://purl.obolibrary.org/obo/HP_0006387", "category_kw": ["Phenotype"], "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."], "category_eng": ["Phenotype"], "equivalent_curie_kw": ["_:79902d1fc95cfe1a147c6288abbcae85"], "label_kw": ["Wide distal femoral metaphysis"], "synonym": ["Wide distal metaphysis of femur", "Broad outermost wide portion of thighbone"], "score": 28.73345, "id_std": "HP:0006387", "equivalent_curie_std": ["_:79902d1fc95cfe1a147c6288abbcae85"], "id": "HP:0006387", "equivalent_iri": ["_:79902d1fc95cfe1a147c6288abbcae85"], "iri_std": "http://purl.obolibrary.org/obo/HP_0006387", "id_kw": "HP:0006387", "leaf": true, "category": ["Phenotype"], "category_std": ["Phenotype"], "definition_eng": ["Increased width of the distal part of the shaft (metaphysis) of the femur."], "equivalent_curie_eng": ["_:79902d1fc95cfe1a147c6288abbcae85"], "label": ["Wide distal femoral metaphysis"], "label_std": ["Wide distal femoral metaphysis"], "definition": ["Increased width of the distal part of the shaft (metaphysis) of the femur."], "synonym_std": ["Wide distal metaphysis of femur", "Broad outermost wide portion of thighbone"], "equivalent_curie": ["_:79902d1fc95cfe1a147c6288abbcae85"]}, {"synonym_eng": ["Femur, Unilateral Bifid, With Monodactylous Ectrodactyly", "Gollop-Wolfgang complex"], "synonym_kw": ["Femur, Unilateral Bifid, With Monodactylous Ectrodactyly", "Gollop-Wolfgang complex"], "iri": "http://purl.obolibrary.org/obo/MESH_C537917", "label_eng": ["Femur bifid with monodactylous ectrodactyly"], "iri_kw": "http://purl.obolibrary.org/obo/MESH_C537917", "iri_eng": "http://purl.obolibrary.org/obo/MESH_C537917", "category_kw": ["disease"], "id_eng": "MESH:C537917", "leaf": true, "category_eng": ["disease"], "label_kw": ["Femur bifid with monodactylous ectrodactyly"], "synonym": ["Femur, Unilateral Bifid, With Monodactylous Ectrodactyly", "Gollop-Wolfgang complex"], "score": 28.73345, "id_std": "MESH:C537917", "id": "MESH:C537917", "iri_std": "http://purl.obolibrary.org/obo/MESH_C537917", "id_kw": "MESH:C537917", "_version_": 1564148012873154562, "category": ["disease"], "category_std": ["disease"], "label": ["Femur bifid with monodactylous ectrodactyly"], "label_std": ["Femur bifid with monodactylous ectrodactyly"], "synonym_std": ["Femur, Unilateral Bifid, With Monodactylous Ectrodactyly", "Gollop-Wolfgang complex"]}, {"synonym_eng": ["increased fumur bone mineral density", "increased BMD of femur"], "synonym_kw": ["increased fumur bone mineral density", "increased BMD of femur"], "iri": "http://purl.obolibrary.org/obo/MP_0020011", "label_eng": ["increased bone mineral density of femur"], "iri_kw": "http://purl.obolibrary.org/obo/MP_0020011", "iri_eng": "http://purl.obolibrary.org/obo/MP_0020011", "category_kw": ["Phenotype"], "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_eng": ["Phenotype"], "_version_": 1564147991312334854, "label_kw": ["increased bone mineral density of femur"], "synonym": ["increased fumur bone mineral density", "increased BMD of femur"], "score": 28.73345, "id_std": "MP:0020011", "id": "MP:0020011", "iri_std": "http://purl.obolibrary.org/obo/MP_0020011", "id_kw": "MP:0020011", "leaf": true, "category": ["Phenotype"], "category_std": ["Phenotype"], "definition_eng": ["elevation in the quatitative measurment value of mineral content of bone in the long bone of the thigh"], "label": ["increased bone mineral density of femur"], "label_std": ["increased bone mineral density of femur"], "definition": ["elevation in the quatitative measurment value of mineral content of bone in the long bone of the thigh"], "synonym_std": ["increased fumur bone mineral density", "increased BMD of femur"]}, {"synonym_eng": ["Erlenmeyer flask femora", "Erlenmeyer flask shaped thighbone", "Erlenmeyer flask deformity of distal femur"], "synonym_kw": ["Erlenmeyer flask femora", "Erlenmeyer flask shaped thighbone", "Erlenmeyer flask deformity of distal femur"], "iri": "http://purl.obolibrary.org/obo/HP_0004975", "label_eng": ["Erlenmeyer flask deformity of the femurs"], "iri_kw": "http://purl.obolibrary.org/obo/HP_0004975", "iri_eng": "http://purl.obolibrary.org/obo/HP_0004975", "category_kw": ["Phenotype"], "definition_std": ["Flaring of distal femur."], "id_eng": "HP:0004975", "definition_kw": ["Flaring of distal femur."], "category_eng": ["Phenotype"], "_version_": 1564148009198944256, "label_kw": ["Erlenmeyer flask deformity of the femurs"], "synonym": ["Erlenmeyer flask femora", "Erlenmeyer flask shaped thighbone", "Erlenmeyer flask deformity of distal femur"], "score": 26.654047, "id_std": "HP:0004975", "id": "HP:0004975", "iri_std": "http://purl.obolibrary.org/obo/HP_0004975", "id_kw": "HP:0004975", "leaf": true, "category": ["Phenotype"], "category_std": ["Phenotype"], "definition_eng": ["Flaring of distal femur."], "label": ["Erlenmeyer flask deformity of the femurs"], "label_std": ["Erlenmeyer flask deformity of the femurs"], "definition": ["Flaring of distal femur."], "synonym_std": ["Erlenmeyer flask femora", "Erlenmeyer flask shaped thighbone", "Erlenmeyer flask deformity of distal femur"]}, {"equivalent_iri_kw": ["_:f7a79b19bd4d974cebaa57a74a2eb9b8"], "_version_": 1564148009280733184, "equivalent_iri_std": ["_:f7a79b19bd4d974cebaa57a74a2eb9b8"], "iri": "http://purl.obolibrary.org/obo/UBERON_0000981PHENOTYPE", "label_eng": ["femur phenotype"], "equivalent_iri_eng": ["_:f7a79b19bd4d974cebaa57a74a2eb9b8"], "iri_kw": "http://purl.obolibrary.org/obo/UBERON_0000981PHENOTYPE", "iri_eng": "http://purl.obolibrary.org/obo/UBERON_0000981PHENOTYPE", "category_kw": ["Phenotype"], "definition_std": ["Any phenotype involving femur."], "id_eng": "UBERON:0000981PHENOTYPE", "definition_kw": ["Any phenotype involving femur."], "category_eng": ["Phenotype"], "equivalent_curie_kw": ["_:f7a79b19bd4d974cebaa57a74a2eb9b8"], "label_kw": ["femur phenotype"], "score": 26.363283, "id_std": "UBERON:0000981PHENOTYPE", "equivalent_curie_std": ["_:f7a79b19bd4d974cebaa57a74a2eb9b8"], "id": "UBERON:0000981PHENOTYPE", "equivalent_iri": ["_:f7a79b19bd4d974cebaa57a74a2eb9b8"], "iri_std": "http://purl.obolibrary.org/obo/UBERON_0000981PHENOTYPE", "id_kw": "UBERON:0000981PHENOTYPE", "leaf": false, "category": ["Phenotype"], "category_std": ["Phenotype"], "definition_eng": ["Any phenotype involving femur."], "equivalent_curie_eng": ["_:f7a79b19bd4d974cebaa57a74a2eb9b8"], "label": ["femur phenotype"], "label_std": ["femur phenotype"], "definition": ["Any phenotype involving femur."], "equivalent_curie": ["_:f7a79b19bd4d974cebaa57a74a2eb9b8"]}, {"equivalent_iri_kw": ["_:d445013c4c0391e288e230d54c9380b1"], "synonym_eng": ["Split thighbone", "Notched thighbone"], "synonym_kw": ["Split thighbone", "Notched thighbone"], "equivalent_iri_std": ["_:d445013c4c0391e288e230d54c9380b1"], "iri": "http://purl.obolibrary.org/obo/HP_0010443", "_version_": 1564147997640491008, "label_eng": ["Bifid femur"], "equivalent_iri_eng": ["_:d445013c4c0391e288e230d54c9380b1"], "iri_kw": "http://purl.obolibrary.org/obo/HP_0010443", "iri_eng": "http://purl.obolibrary.org/obo/HP_0010443", "category_kw": ["Phenotype"], "definition_std": ["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."], "id_eng": "HP:0010443", "definition_kw": ["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."], "category_eng": ["Phenotype"], "equivalent_curie_kw": ["_:d445013c4c0391e288e230d54c9380b1"], "label_kw": ["Bifid femur"], "synonym": ["Split thighbone", "Notched thighbone"], "score": 26.363283, "id_std": "HP:0010443", "equivalent_curie_std": ["_:d445013c4c0391e288e230d54c9380b1"], "id": "HP:0010443", "equivalent_iri": ["_:d445013c4c0391e288e230d54c9380b1"], "iri_std": "http://purl.obolibrary.org/obo/HP_0010443", "id_kw": "HP:0010443", "leaf": true, "category": ["Phenotype"], "category_std": ["Phenotype"], "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_eng": ["_:d445013c4c0391e288e230d54c9380b1"], "label": ["Bifid femur"], "label_std": ["Bifid femur"], "definition": ["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."], "synonym_std": ["Split thighbone", "Notched thighbone"], "equivalent_curie": ["_:d445013c4c0391e288e230d54c9380b1"]}, {"equivalent_iri_kw": ["http://purl.obolibrary.org/obo/UMLS_C1300257", "http://purl.obolibrary.org/obo/UMLS_CN206542", "http://www.orpha.net/ORDO/Orphanet_93274", "http://purl.obolibrary.org/obo/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 dwarfism-cloverleaf skull syndrome", "Thanatophoric Dysplasia With Kleeblattschaedel", "Thanatophoric dysplasia with Kleeblattschaedel", "Cloverleaf skull-micromelic bone dysplasia syndrome", "Thanatophoric Dysplasia With Straight Femurs And Cloverleaf Skull", "Thanatophoric dwarfism type 2"], "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 dwarfism-cloverleaf skull syndrome", "Thanatophoric Dysplasia With Kleeblattschaedel", "Thanatophoric dysplasia with Kleeblattschaedel", "Cloverleaf skull-micromelic bone dysplasia syndrome", "Thanatophoric Dysplasia With Straight Femurs And Cloverleaf Skull", "Thanatophoric dwarfism type 2"], "equivalent_iri_std": ["http://purl.obolibrary.org/obo/UMLS_C1300257", "http://purl.obolibrary.org/obo/UMLS_CN206542", "http://www.orpha.net/ORDO/Orphanet_93274", "http://purl.obolibrary.org/obo/MESH_C536508"], "iri": "http://purl.obolibrary.org/obo/OMIM_187601", "_version_": 1564147992889393154, "label_eng": ["Thanatophoric dysplasia type 2"], "equivalent_iri_eng": ["http://purl.obolibrary.org/obo/UMLS_C1300257", "http://purl.obolibrary.org/obo/UMLS_CN206542", "http://www.orpha.net/ORDO/Orphanet_93274", "http://purl.obolibrary.org/obo/MESH_C536508"], "iri_kw": "http://purl.obolibrary.org/obo/OMIM_187601", "iri_eng": "http://purl.obolibrary.org/obo/OMIM_187601", "category_kw": ["disease"], "definition_std": [")."], "id_eng": "OMIM:187601", "definition_kw": [")."], "category_eng": ["disease"], "equivalent_curie_kw": ["UMLS:C1300257", "UMLS:CN206542", "Orphanet:93274", "MESH:C536508"], "label_kw": ["Thanatophoric dysplasia type 2"], "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 dwarfism-cloverleaf skull syndrome", "Thanatophoric Dysplasia With Kleeblattschaedel", "Thanatophoric dysplasia with Kleeblattschaedel", "Cloverleaf skull-micromelic bone dysplasia syndrome", "Thanatophoric Dysplasia With Straight Femurs And Cloverleaf Skull", "Thanatophoric dwarfism type 2"], "score": 24.037888, "id_std": "OMIM:187601", "equivalent_curie_std": ["UMLS:C1300257", "UMLS:CN206542", "Orphanet:93274", "MESH:C536508"], "id": "OMIM:187601", "equivalent_iri": ["http://purl.obolibrary.org/obo/UMLS_C1300257", "http://purl.obolibrary.org/obo/UMLS_CN206542", "http://www.orpha.net/ORDO/Orphanet_93274", "http://purl.obolibrary.org/obo/MESH_C536508"], "iri_std": "http://purl.obolibrary.org/obo/OMIM_187601", "id_kw": "OMIM:187601", "leaf": false, "category": ["disease"], "category_std": ["disease"], "definition_eng": [")."], "equivalent_curie_eng": ["UMLS:C1300257", "UMLS:CN206542", "Orphanet:93274", "MESH:C536508"], "label": ["Thanatophoric dysplasia type 2"], "label_std": ["Thanatophoric dysplasia type 2"], "definition": [")."], "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 dwarfism-cloverleaf skull syndrome", "Thanatophoric Dysplasia With Kleeblattschaedel", "Thanatophoric dysplasia with Kleeblattschaedel", "Cloverleaf skull-micromelic bone dysplasia syndrome", "Thanatophoric Dysplasia With Straight Femurs And Cloverleaf Skull", "Thanatophoric dwarfism type 2"], "equivalent_curie": ["UMLS:C1300257", "UMLS:CN206542", "Orphanet:93274", "MESH:C536508"]}, {"equivalent_iri_kw": ["_:c29b06e7c7fb3c2a7d84362f09ad94ce"], "_version_": 1564147975463108608, "equivalent_iri_std": ["_:c29b06e7c7fb3c2a7d84362f09ad94ce"], "iri": "http://purl.obolibrary.org/obo/UBERON_0009980PHENOTYPE", "label_eng": ["condyle of femur phenotype"], "equivalent_iri_eng": ["_:c29b06e7c7fb3c2a7d84362f09ad94ce"], "iri_kw": "http://purl.obolibrary.org/obo/UBERON_0009980PHENOTYPE", "iri_eng": "http://purl.obolibrary.org/obo/UBERON_0009980PHENOTYPE", "category_kw": ["Phenotype"], "definition_std": ["Any phenotype involving condyle of femur."], "id_eng": "UBERON:0009980PHENOTYPE", "definition_kw": ["Any phenotype involving condyle of femur."], "category_eng": ["Phenotype"], "equivalent_curie_kw": ["_:c29b06e7c7fb3c2a7d84362f09ad94ce"], "label_kw": ["condyle of femur phenotype"], "score": 24.003965, "id_std": "UBERON:0009980PHENOTYPE", "equivalent_curie_std": ["_:c29b06e7c7fb3c2a7d84362f09ad94ce"], "id": "UBERON:0009980PHENOTYPE", "equivalent_iri": ["_:c29b06e7c7fb3c2a7d84362f09ad94ce"], "iri_std": "http://purl.obolibrary.org/obo/UBERON_0009980PHENOTYPE", "id_kw": "UBERON:0009980PHENOTYPE", "leaf": false, "category": ["Phenotype"], "category_std": ["Phenotype"], "definition_eng": ["Any phenotype involving condyle of femur."], "equivalent_curie_eng": ["_:c29b06e7c7fb3c2a7d84362f09ad94ce"], "label": ["condyle of femur phenotype"], "label_std": ["condyle of femur phenotype"], "definition": ["Any phenotype involving condyle of femur."], 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"equivalent_iri": ["_:f4b6d1ee2e8253c8f1145a9819224171"], "category": ["Phenotype"], "category_std": ["Phenotype"], "equivalent_curie_eng": ["_:f4b6d1ee2e8253c8f1145a9819224171"], "label": ["Drosophila femur phenotype"], "label_std": ["Drosophila femur phenotype"], "equivalent_curie": ["_:f4b6d1ee2e8253c8f1145a9819224171"]}, {"equivalent_iri_kw": ["_:01eddcfffeadf2d0f9c00a7d612c8937"], "_version_": 1564147976968863745, "equivalent_iri_std": ["_:01eddcfffeadf2d0f9c00a7d612c8937"], "iri": "http://purl.obolibrary.org/obo/UBERON_0007119PHENOTYPE", "label_eng": ["neck of femur phenotype"], "equivalent_iri_eng": ["_:01eddcfffeadf2d0f9c00a7d612c8937"], "iri_kw": "http://purl.obolibrary.org/obo/UBERON_0007119PHENOTYPE", "iri_eng": "http://purl.obolibrary.org/obo/UBERON_0007119PHENOTYPE", "category_kw": ["Phenotype"], "definition_std": ["Any phenotype involving neck of femur."], "id_eng": "UBERON:0007119PHENOTYPE", "definition_kw": ["Any phenotype involving neck of femur."], "category_eng": 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false, "category": ["Phenotype"], "category_std": ["Phenotype"], "definition_eng": ["Any phenotype involving distal metaphysis of femur."], "equivalent_curie_eng": ["_:e84d0a75799a7db220a5720a8251c3f2"], "label": ["distal metaphysis of femur phenotype"], "label_std": ["distal metaphysis of femur phenotype"], "definition": ["Any phenotype involving distal metaphysis of femur."], "equivalent_curie": ["_:e84d0a75799a7db220a5720a8251c3f2"]}, {"category_eng": ["disease"], "_version_": 1564147979606032387, "label_kw": ["Congenital pseudoarthrosis of the femur"], "score": 24.003965, "id_std": "Orphanet:295020", "id": "Orphanet:295020", "iri": "http://www.orpha.net/ORDO/Orphanet_295020", "iri_std": "http://www.orpha.net/ORDO/Orphanet_295020", "label_eng": ["Congenital pseudoarthrosis of the femur"], "id_kw": "Orphanet:295020", "leaf": true, "iri_kw": "http://www.orpha.net/ORDO/Orphanet_295020", "category": ["disease"], "iri_eng": "http://www.orpha.net/ORDO/Orphanet_295020", "category_kw": ["disease"], "label": ["Congenital pseudoarthrosis of the femur"], "label_std": ["Congenital pseudoarthrosis of the femur"], "id_eng": "Orphanet:295020", "category_std": ["disease"]}, {"equivalent_iri_kw": ["_:9ca856dabf88896db1341943dc1eb9a4"], "iri": "http://purl.obolibrary.org/obo/FBbt_00004689PHENOTYPE", "label_eng": ["Drosophila mesothoracic femur phenotype"], "equivalent_iri_eng": ["_:9ca856dabf88896db1341943dc1eb9a4"], "iri_kw": "http://purl.obolibrary.org/obo/FBbt_00004689PHENOTYPE", "iri_eng": "http://purl.obolibrary.org/obo/FBbt_00004689PHENOTYPE", "category_kw": ["Phenotype"], "id_eng": "FBbt:00004689PHENOTYPE", "leaf": false, "category_eng": ["Phenotype"], "equivalent_curie_kw": ["_:9ca856dabf88896db1341943dc1eb9a4"], "label_kw": ["Drosophila mesothoracic femur phenotype"], "score": 24.003965, "id_std": "FBbt:00004689PHENOTYPE", "equivalent_curie_std": ["_:9ca856dabf88896db1341943dc1eb9a4"], "id": "FBbt:00004689PHENOTYPE", "equivalent_iri_std": ["_:9ca856dabf88896db1341943dc1eb9a4"], "iri_std": "http://purl.obolibrary.org/obo/FBbt_00004689PHENOTYPE", "id_kw": "FBbt:00004689PHENOTYPE", "_version_": 1564147979610226688, "equivalent_iri": ["_:9ca856dabf88896db1341943dc1eb9a4"], "category": ["Phenotype"], "category_std": ["Phenotype"], "equivalent_curie_eng": ["_:9ca856dabf88896db1341943dc1eb9a4"], "label": ["Drosophila mesothoracic femur phenotype"], "label_std": ["Drosophila mesothoracic femur phenotype"], "equivalent_curie": ["_:9ca856dabf88896db1341943dc1eb9a4"]}, {"equivalent_iri_kw": ["_:bc9926a250a53d63de9b077783c9b562"], "_version_": 1564148006683410432, "equivalent_iri_std": ["_:bc9926a250a53d63de9b077783c9b562"], "iri": "http://purl.obolibrary.org/obo/UBERON_0004406PHENOTYPE", "label_eng": ["distal epiphysis of femur phenotype"], "equivalent_iri_eng": ["_:bc9926a250a53d63de9b077783c9b562"], "iri_kw": "http://purl.obolibrary.org/obo/UBERON_0004406PHENOTYPE", "iri_eng": 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"label_std": ["distal epiphysis of femur phenotype"], "definition": ["Any phenotype involving distal epiphysis of femur."], "equivalent_curie": ["_:bc9926a250a53d63de9b077783c9b562"]}, {"equivalent_iri_kw": ["_:cab66511811b61c6d3b0c55b84f9eaf4"], "_version_": 1564148006757859330, "equivalent_iri_std": ["_:cab66511811b61c6d3b0c55b84f9eaf4"], "iri": "http://purl.obolibrary.org/obo/UBERON_0006767PHENOTYPE", "label_eng": ["head of femur phenotype"], "equivalent_iri_eng": ["_:cab66511811b61c6d3b0c55b84f9eaf4"], "iri_kw": "http://purl.obolibrary.org/obo/UBERON_0006767PHENOTYPE", "iri_eng": "http://purl.obolibrary.org/obo/UBERON_0006767PHENOTYPE", "category_kw": ["Phenotype"], "definition_std": ["Any phenotype involving head of femur."], "id_eng": "UBERON:0006767PHENOTYPE", "definition_kw": ["Any phenotype involving head of femur."], "category_eng": ["Phenotype"], "equivalent_curie_kw": ["_:cab66511811b61c6d3b0c55b84f9eaf4"], "label_kw": ["head of femur phenotype"], "score": 24.003965, "id_std": "UBERON:0006767PHENOTYPE", "equivalent_curie_std": ["_:cab66511811b61c6d3b0c55b84f9eaf4"], "id": "UBERON:0006767PHENOTYPE", "equivalent_iri": ["_:cab66511811b61c6d3b0c55b84f9eaf4"], "iri_std": "http://purl.obolibrary.org/obo/UBERON_0006767PHENOTYPE", "id_kw": "UBERON:0006767PHENOTYPE", "leaf": false, "category": ["Phenotype"], "category_std": ["Phenotype"], "definition_eng": ["Any phenotype involving head of femur."], "equivalent_curie_eng": ["_:cab66511811b61c6d3b0c55b84f9eaf4"], "label": ["head of femur phenotype"], "label_std": ["head of femur phenotype"], "definition": ["Any phenotype involving head of femur."], "equivalent_curie": ["_:cab66511811b61c6d3b0c55b84f9eaf4"]}, {"equivalent_iri_kw": ["_:5a1ea2bc5e42fdc066263e4c22a86860"], "synonym_eng": ["Abnormality of the femora", "Abnormality of the thighbone"], "synonym_kw": ["Abnormality of the femora", "Abnormality of the thighbone"], "equivalent_iri_std": ["_:5a1ea2bc5e42fdc066263e4c22a86860"], "iri": "http://purl.obolibrary.org/obo/HP_0002823", "_version_": 1564148007271661571, "label_eng": ["Abnormality of the femur"], "equivalent_iri_eng": ["_:5a1ea2bc5e42fdc066263e4c22a86860"], "iri_kw": "http://purl.obolibrary.org/obo/HP_0002823", "iri_eng": "http://purl.obolibrary.org/obo/HP_0002823", "category_kw": ["Phenotype"], "definition_std": ["Abnormality of the femur."], "id_eng": "HP:0002823", "definition_kw": ["Abnormality of the femur."], "category_eng": ["Phenotype"], "equivalent_curie_kw": ["_:5a1ea2bc5e42fdc066263e4c22a86860"], "label_kw": ["Abnormality of the femur"], "synonym": ["Abnormality of the femora", "Abnormality of the thighbone"], "score": 24.003965, "id_std": "HP:0002823", "equivalent_curie_std": ["_:5a1ea2bc5e42fdc066263e4c22a86860"], "id": "HP:0002823", "equivalent_iri": ["_:5a1ea2bc5e42fdc066263e4c22a86860"], "iri_std": "http://purl.obolibrary.org/obo/HP_0002823", "id_kw": "HP:0002823", "leaf": false, "category": ["Phenotype"], "category_std": ["Phenotype"], "definition_eng": ["Abnormality of the femur."], "equivalent_curie_eng": ["_:5a1ea2bc5e42fdc066263e4c22a86860"], "label": ["Abnormality of the femur"], "label_std": ["Abnormality of the femur"], "definition": ["Abnormality of the femur."], "synonym_std": ["Abnormality of the femora", "Abnormality of the thighbone"], "equivalent_curie": ["_:5a1ea2bc5e42fdc066263e4c22a86860"]}, {"equivalent_iri_kw": ["_:8d3f0b658a7c4446772f0539eaa25243"], "_version_": 1564148007341916160, "equivalent_iri_std": ["_:8d3f0b658a7c4446772f0539eaa25243"], "iri": "http://purl.obolibrary.org/obo/UBERON_0004384PHENOTYPE", "label_eng": ["epiphysis of femur phenotype"], "equivalent_iri_eng": ["_:8d3f0b658a7c4446772f0539eaa25243"], "iri_kw": "http://purl.obolibrary.org/obo/UBERON_0004384PHENOTYPE", "iri_eng": "http://purl.obolibrary.org/obo/UBERON_0004384PHENOTYPE", "category_kw": ["Phenotype"], "definition_std": ["Any phenotype involving epiphysis of femur."], "id_eng": "UBERON:0004384PHENOTYPE", "definition_kw": ["Any phenotype involving epiphysis of femur."], "category_eng": ["Phenotype"], "equivalent_curie_kw": ["_:8d3f0b658a7c4446772f0539eaa25243"], "label_kw": ["epiphysis of femur phenotype"], "score": 24.003965, "id_std": "UBERON:0004384PHENOTYPE", "equivalent_curie_std": ["_:8d3f0b658a7c4446772f0539eaa25243"], "id": "UBERON:0004384PHENOTYPE", "equivalent_iri": ["_:8d3f0b658a7c4446772f0539eaa25243"], "iri_std": "http://purl.obolibrary.org/obo/UBERON_0004384PHENOTYPE", "id_kw": "UBERON:0004384PHENOTYPE", "leaf": false, "category": ["Phenotype"], "category_std": ["Phenotype"], "definition_eng": ["Any phenotype involving epiphysis of femur."], "equivalent_curie_eng": ["_:8d3f0b658a7c4446772f0539eaa25243"], "label": ["epiphysis of femur phenotype"], "label_std": ["epiphysis of femur phenotype"], "definition": ["Any phenotype involving epiphysis of femur."], "equivalent_curie": ["_:8d3f0b658a7c4446772f0539eaa25243"]}, {"equivalent_iri_kw": ["_:70e4744caf0959de06ce979028b1e7d2"], "_version_": 1564148009607888896, "equivalent_iri_std": ["_:70e4744caf0959de06ce979028b1e7d2"], "iri": "http://purl.obolibrary.org/obo/UBERON_0010129PHENOTYPE", "label_eng": ["femur cartilage element phenotype"], "equivalent_iri_eng": ["_:70e4744caf0959de06ce979028b1e7d2"], "iri_kw": "http://purl.obolibrary.org/obo/UBERON_0010129PHENOTYPE", "iri_eng": "http://purl.obolibrary.org/obo/UBERON_0010129PHENOTYPE", "category_kw": ["Phenotype"], "definition_std": ["Any phenotype involving femur cartilage element."], "id_eng": "UBERON:0010129PHENOTYPE", "definition_kw": ["Any phenotype involving femur cartilage element."], "category_eng": ["Phenotype"], "equivalent_curie_kw": ["_:70e4744caf0959de06ce979028b1e7d2"], "label_kw": ["femur cartilage element phenotype"], "score": 24.003965, "id_std": "UBERON:0010129PHENOTYPE", "equivalent_curie_std": ["_:70e4744caf0959de06ce979028b1e7d2"], "id": "UBERON:0010129PHENOTYPE", "equivalent_iri": ["_:70e4744caf0959de06ce979028b1e7d2"], "iri_std": "http://purl.obolibrary.org/obo/UBERON_0010129PHENOTYPE", "id_kw": "UBERON:0010129PHENOTYPE", "leaf": true, "category": ["Phenotype"], "category_std": ["Phenotype"], "definition_eng": ["Any phenotype involving femur cartilage element."], "equivalent_curie_eng": ["_:70e4744caf0959de06ce979028b1e7d2"], "label": ["femur cartilage element phenotype"], "label_std": ["femur cartilage element phenotype"], "definition": ["Any phenotype involving femur cartilage element."], "equivalent_curie": ["_:70e4744caf0959de06ce979028b1e7d2"]}, {"equivalent_iri_kw": ["_:f6e7016b71fd58807650c80905b4a9ac"], "synonym_eng": ["Hypoplastic to absent femora", "Absent/small thighbone", "Absent/underdeveloped thighbone", "Hypoplastic/aplastic femora"], "synonym_kw": ["Hypoplastic to absent femora", "Absent/small thighbone", "Absent/underdeveloped thighbone", "Hypoplastic/aplastic femora"], "equivalent_iri_std": ["_:f6e7016b71fd58807650c80905b4a9ac"], "iri": "http://purl.obolibrary.org/obo/HP_0005613", "_version_": 1564148009702260741, "label_eng": ["Aplasia/hypoplasia of the femur"], "equivalent_iri_eng": ["_:f6e7016b71fd58807650c80905b4a9ac"], "iri_kw": "http://purl.obolibrary.org/obo/HP_0005613", "iri_eng": "http://purl.obolibrary.org/obo/HP_0005613", "category_kw": ["Phenotype"], "definition_std": ["Absence or underdevelopment of the femur."], "id_eng": "HP:0005613", "definition_kw": ["Absence or underdevelopment of the femur."], "category_eng": ["Phenotype"], "equivalent_curie_kw": ["_:f6e7016b71fd58807650c80905b4a9ac"], "label_kw": ["Aplasia/hypoplasia of the femur"], "synonym": ["Hypoplastic to absent femora", "Absent/small thighbone", "Absent/underdeveloped thighbone", "Hypoplastic/aplastic femora"], "score": 24.003965, "id_std": "HP:0005613", "equivalent_curie_std": ["_:f6e7016b71fd58807650c80905b4a9ac"], "id": "HP:0005613", "equivalent_iri": ["_:f6e7016b71fd58807650c80905b4a9ac"], "iri_std": "http://purl.obolibrary.org/obo/HP_0005613", "id_kw": "HP:0005613", "leaf": false, "category": ["Phenotype"], "category_std": ["Phenotype"], "definition_eng": ["Absence or underdevelopment of the femur."], "equivalent_curie_eng": ["_:f6e7016b71fd58807650c80905b4a9ac"], "label": ["Aplasia/hypoplasia of the femur"], "label_std": ["Aplasia/hypoplasia of the femur"], "definition": ["Absence or underdevelopment of the femur."], "synonym_std": ["Hypoplastic to absent femora", "Absent/small thighbone", "Absent/underdeveloped thighbone", "Hypoplastic/aplastic femora"], "equivalent_curie": ["_:f6e7016b71fd58807650c80905b4a9ac"]}, {"synonym_eng": ["Club-shaped distal femora", "Club-shaped outermost end of thighbone"], "synonym_kw": ["Club-shaped distal femora", "Club-shaped outermost end of thighbone"], "iri": "http://purl.obolibrary.org/obo/HP_0006384", "label_eng": ["Club-shaped distal femur"], "iri_kw": "http://purl.obolibrary.org/obo/HP_0006384", "iri_eng": "http://purl.obolibrary.org/obo/HP_0006384", "category_kw": ["Phenotype"], "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_eng": ["Phenotype"], "_version_": 1564148010275831810, "label_kw": ["Club-shaped distal femur"], "synonym": ["Club-shaped distal femora", "Club-shaped outermost end of thighbone"], "score": 24.003965, "id_std": "HP:0006384", "id": "HP:0006384", "iri_std": "http://purl.obolibrary.org/obo/HP_0006384", "id_kw": "HP:0006384", "leaf": true, "category": ["Phenotype"], "category_std": ["Phenotype"], "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."], "label": ["Club-shaped distal femur"], "label_std": ["Club-shaped distal femur"], "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_std": ["Club-shaped distal femora", "Club-shaped outermost end of thighbone"]}, {"synonym_eng": ["Dumbbell-shaped thighbone"], "synonym_kw": ["Dumbbell-shaped thighbone"], "iri": "http://purl.obolibrary.org/obo/HP_0006375", "label_eng": ["Dumbbell-shaped femur"], "iri_kw": "http://purl.obolibrary.org/obo/HP_0006375", "iri_eng": "http://purl.obolibrary.org/obo/HP_0006375", "category_kw": ["Phenotype"], "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_eng": ["Phenotype"], "_version_": 1564148010284220421, "label_kw": ["Dumbbell-shaped femur"], "synonym": ["Dumbbell-shaped thighbone"], "score": 24.003965, "id_std": "HP:0006375", "id": "HP:0006375", "iri_std": "http://purl.obolibrary.org/obo/HP_0006375", "id_kw": "HP:0006375", "leaf": true, "category": ["Phenotype"], "category_std": ["Phenotype"], "definition_eng": ["The femur is shortened and displays flaring (widening) of the metaphyses."], "label": ["Dumbbell-shaped femur"], "label_std": ["Dumbbell-shaped femur"], "definition": ["The femur is shortened and displays flaring (widening) of the metaphyses."], "synonym_std": ["Dumbbell-shaped thighbone"]}, {"synonym_eng": ["Tapering of outermost end of thighbone"], "synonym_kw": ["Tapering of outermost end of thighbone"], "iri": "http://purl.obolibrary.org/obo/HP_0006408", "label_eng": ["Distal tapering femur"], "iri_kw": "http://purl.obolibrary.org/obo/HP_0006408", "iri_eng": "http://purl.obolibrary.org/obo/HP_0006408", "category_kw": ["Phenotype"], "id_eng": "HP:0006408", "leaf": true, "category_eng": ["Phenotype"], "label_kw": ["Distal tapering femur"], "synonym": ["Tapering of outermost end of thighbone"], "score": 24.003965, "id_std": "HP:0006408", "id": "HP:0006408", "iri_std": "http://purl.obolibrary.org/obo/HP_0006408", "id_kw": "HP:0006408", "_version_": 1564148010464575488, "category": ["Phenotype"], "category_std": ["Phenotype"], "label": ["Distal tapering femur"], "label_std": ["Distal tapering femur"], "synonym_std": ["Tapering of outermost end of thighbone"]}, {"synonym_eng": ["Club-shaped innermost end of thighbone"], "synonym_kw": ["Club-shaped innermost end of thighbone"], "iri": "http://purl.obolibrary.org/obo/HP_0006406", "label_eng": ["Club-shaped proximal femur"], "iri_kw": "http://purl.obolibrary.org/obo/HP_0006406", "iri_eng": "http://purl.obolibrary.org/obo/HP_0006406", "category_kw": ["Phenotype"], "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_eng": ["Phenotype"], "_version_": 1564148010465624066, "label_kw": ["Club-shaped proximal femur"], "synonym": ["Club-shaped innermost end of thighbone"], "score": 24.003965, "id_std": "HP:0006406", "id": "HP:0006406", "iri_std": "http://purl.obolibrary.org/obo/HP_0006406", "id_kw": "HP:0006406", "leaf": true, "category": ["Phenotype"], "category_std": ["Phenotype"], "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."], "label": ["Club-shaped proximal femur"], "label_std": ["Club-shaped proximal femur"], "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_std": ["Club-shaped innermost end of thighbone"]}, {"equivalent_iri_kw": ["_:6a7bdda91d9a8205704c8ede22b56e80"], "_version_": 1564148010573627393, "equivalent_iri_std": ["_:6a7bdda91d9a8205704c8ede22b56e80"], "iri": "http://purl.obolibrary.org/obo/UBERON_0006862PHENOTYPE", "label_eng": ["diaphysis of femur phenotype"], "equivalent_iri_eng": ["_:6a7bdda91d9a8205704c8ede22b56e80"], "iri_kw": "http://purl.obolibrary.org/obo/UBERON_0006862PHENOTYPE", "iri_eng": "http://purl.obolibrary.org/obo/UBERON_0006862PHENOTYPE", "category_kw": ["Phenotype"], "definition_std": ["Any phenotype involving diaphysis of femur."], "id_eng": "UBERON:0006862PHENOTYPE", "definition_kw": ["Any phenotype involving diaphysis of femur."], "category_eng": ["Phenotype"], "equivalent_curie_kw": ["_:6a7bdda91d9a8205704c8ede22b56e80"], "label_kw": ["diaphysis of femur phenotype"], "score": 24.003965, "id_std": "UBERON:0006862PHENOTYPE", "equivalent_curie_std": ["_:6a7bdda91d9a8205704c8ede22b56e80"], "id": "UBERON:0006862PHENOTYPE", "equivalent_iri": ["_:6a7bdda91d9a8205704c8ede22b56e80"], "iri_std": "http://purl.obolibrary.org/obo/UBERON_0006862PHENOTYPE", "id_kw": "UBERON:0006862PHENOTYPE", "leaf": false, "category": ["Phenotype"], "category_std": ["Phenotype"], "definition_eng": ["Any phenotype involving diaphysis of femur."], "equivalent_curie_eng": ["_:6a7bdda91d9a8205704c8ede22b56e80"], "label": ["diaphysis of femur phenotype"], "label_std": ["diaphysis of femur phenotype"], "definition": ["Any phenotype involving diaphysis of femur."], "equivalent_curie": ["_:6a7bdda91d9a8205704c8ede22b56e80"]}, {"equivalent_iri_kw": ["_:449468eb4b8b98c8e8fb1701c351ef4a"], "iri": "http://purl.obolibrary.org/obo/FBbt_00004667PHENOTYPE", "label_eng": ["Drosophila prothoracic femur phenotype"], "equivalent_iri_eng": ["_:449468eb4b8b98c8e8fb1701c351ef4a"], "iri_kw": "http://purl.obolibrary.org/obo/FBbt_00004667PHENOTYPE", "iri_eng": "http://purl.obolibrary.org/obo/FBbt_00004667PHENOTYPE", "category_kw": ["Phenotype"], "id_eng": "FBbt:00004667PHENOTYPE", "leaf": false, "category_eng": ["Phenotype"], "equivalent_curie_kw": ["_:449468eb4b8b98c8e8fb1701c351ef4a"], "label_kw": ["Drosophila prothoracic femur phenotype"], "score": 24.003965, "id_std": "FBbt:00004667PHENOTYPE", "equivalent_curie_std": ["_:449468eb4b8b98c8e8fb1701c351ef4a"], "id": "FBbt:00004667PHENOTYPE", "equivalent_iri_std": ["_:449468eb4b8b98c8e8fb1701c351ef4a"], "iri_std": "http://purl.obolibrary.org/obo/FBbt_00004667PHENOTYPE", "id_kw": "FBbt:00004667PHENOTYPE", "_version_": 1564147992494080002, "equivalent_iri": ["_:449468eb4b8b98c8e8fb1701c351ef4a"], "category": ["Phenotype"], "category_std": ["Phenotype"], "equivalent_curie_eng": ["_:449468eb4b8b98c8e8fb1701c351ef4a"], "label": ["Drosophila prothoracic femur phenotype"], "label_std": ["Drosophila prothoracic femur phenotype"], "equivalent_curie": ["_:449468eb4b8b98c8e8fb1701c351ef4a"]}, {"equivalent_iri_kw": ["_:bde1049eedc5df8bb51c15ce135e6d5e"], "_version_": 1564147993563627524, "equivalent_iri_std": ["_:bde1049eedc5df8bb51c15ce135e6d5e"], "iri": "http://purl.obolibrary.org/obo/UBERON_0015052PHENOTYPE", "label_eng": ["femur endochondral element phenotype"], "equivalent_iri_eng": ["_:bde1049eedc5df8bb51c15ce135e6d5e"], "iri_kw": "http://purl.obolibrary.org/obo/UBERON_0015052PHENOTYPE", "iri_eng": "http://purl.obolibrary.org/obo/UBERON_0015052PHENOTYPE", "category_kw": ["Phenotype"], "definition_std": ["Any phenotype involving femur endochondral element."], "id_eng": "UBERON:0015052PHENOTYPE", "definition_kw": ["Any phenotype involving femur endochondral element."], "category_eng": ["Phenotype"], "equivalent_curie_kw": ["_:bde1049eedc5df8bb51c15ce135e6d5e"], "label_kw": ["femur endochondral element phenotype"], "score": 24.003965, "id_std": "UBERON:0015052PHENOTYPE", "equivalent_curie_std": ["_:bde1049eedc5df8bb51c15ce135e6d5e"], "id": "UBERON:0015052PHENOTYPE", "equivalent_iri": ["_:bde1049eedc5df8bb51c15ce135e6d5e"], "iri_std": "http://purl.obolibrary.org/obo/UBERON_0015052PHENOTYPE", "id_kw": "UBERON:0015052PHENOTYPE", "leaf": false, "category": ["Phenotype"], "category_std": ["Phenotype"], "definition_eng": ["Any phenotype involving femur endochondral element."], "equivalent_curie_eng": ["_:bde1049eedc5df8bb51c15ce135e6d5e"], "label": ["femur endochondral element phenotype"], "label_std": ["femur endochondral element phenotype"], "definition": ["Any phenotype involving femur endochondral element."], "equivalent_curie": ["_:bde1049eedc5df8bb51c15ce135e6d5e"]}, {"equivalent_iri_kw": ["_:011cc0fefa05df2dcd7bf4546ddc3ad5"], "_version_": 1564147993922240513, "equivalent_iri_std": ["_:011cc0fefa05df2dcd7bf4546ddc3ad5"], "iri": "http://purl.obolibrary.org/obo/UBERON_0006863PHENOTYPE", "label_eng": ["proximal metaphysis of femur phenotype"], "equivalent_iri_eng": ["_:011cc0fefa05df2dcd7bf4546ddc3ad5"], "iri_kw": "http://purl.obolibrary.org/obo/UBERON_0006863PHENOTYPE", "iri_eng": "http://purl.obolibrary.org/obo/UBERON_0006863PHENOTYPE", "category_kw": ["Phenotype"], "definition_std": ["Any phenotype involving proximal metaphysis of femur."], "id_eng": "UBERON:0006863PHENOTYPE", "definition_kw": ["Any phenotype involving proximal metaphysis of femur."], "category_eng": ["Phenotype"], "equivalent_curie_kw": ["_:011cc0fefa05df2dcd7bf4546ddc3ad5"], "label_kw": ["proximal metaphysis of femur phenotype"], "score": 24.003965, "id_std": "UBERON:0006863PHENOTYPE", "equivalent_curie_std": ["_:011cc0fefa05df2dcd7bf4546ddc3ad5"], "id": "UBERON:0006863PHENOTYPE", "equivalent_iri": ["_:011cc0fefa05df2dcd7bf4546ddc3ad5"], "iri_std": "http://purl.obolibrary.org/obo/UBERON_0006863PHENOTYPE", "id_kw": "UBERON:0006863PHENOTYPE", "leaf": false, "category": ["Phenotype"], "category_std": ["Phenotype"], "definition_eng": ["Any phenotype involving proximal metaphysis of femur."], "equivalent_curie_eng": ["_:011cc0fefa05df2dcd7bf4546ddc3ad5"], "label": ["proximal metaphysis of femur phenotype"], "label_std": ["proximal metaphysis of femur phenotype"], "definition": ["Any phenotype involving proximal metaphysis of femur."], "equivalent_curie": ["_:011cc0fefa05df2dcd7bf4546ddc3ad5"]}, {"equivalent_iri_kw": ["_:f321906edef1c274d8d56ef65e2bd2b1"], "iri": "http://purl.obolibrary.org/obo/FBbt_00004711PHENOTYPE", "label_eng": ["Drosophila metathoracic femur phenotype"], "equivalent_iri_eng": ["_:f321906edef1c274d8d56ef65e2bd2b1"], "iri_kw": "http://purl.obolibrary.org/obo/FBbt_00004711PHENOTYPE", "iri_eng": "http://purl.obolibrary.org/obo/FBbt_00004711PHENOTYPE", "category_kw": ["Phenotype"], "id_eng": "FBbt:00004711PHENOTYPE", "leaf": false, "category_eng": ["Phenotype"], "equivalent_curie_kw": ["_:f321906edef1c274d8d56ef65e2bd2b1"], "label_kw": ["Drosophila metathoracic femur phenotype"], "score": 24.003965, "id_std": "FBbt:00004711PHENOTYPE", "equivalent_curie_std": ["_:f321906edef1c274d8d56ef65e2bd2b1"], "id": "FBbt:00004711PHENOTYPE", "equivalent_iri_std": ["_:f321906edef1c274d8d56ef65e2bd2b1"], "iri_std": "http://purl.obolibrary.org/obo/FBbt_00004711PHENOTYPE", "id_kw": "FBbt:00004711PHENOTYPE", "_version_": 1564147994587037696, "equivalent_iri": ["_:f321906edef1c274d8d56ef65e2bd2b1"], "category": ["Phenotype"], "category_std": ["Phenotype"], "equivalent_curie_eng": ["_:f321906edef1c274d8d56ef65e2bd2b1"], "label": ["Drosophila metathoracic femur phenotype"], "label_std": ["Drosophila metathoracic femur phenotype"], "equivalent_curie": ["_:f321906edef1c274d8d56ef65e2bd2b1"]}, {"iri": "http://purl.obolibrary.org/obo/MP_0013625", "label_eng": ["increased femur yield load"], "iri_kw": "http://purl.obolibrary.org/obo/MP_0013625", "iri_eng": "http://purl.obolibrary.org/obo/MP_0013625", "category_kw": ["Phenotype"], "definition_kw": ["increase in load (N) on the femur at which elastic deformation ends"], "definition_std": ["increase in load (N) on the femur at which elastic deformation ends"], "id_eng": "MP:0013625", "leaf": true, "category_eng": ["Phenotype"], "label_kw": ["increased femur yield load"], "score": 24.003965, "id_std": "MP:0013625", "id": "MP:0013625", "iri_std": "http://purl.obolibrary.org/obo/MP_0013625", "id_kw": "MP:0013625", "_version_": 1564147997269295107, "category": ["Phenotype"], "category_std": ["Phenotype"], "definition_eng": ["increase in load (N) on the femur at which elastic deformation ends"], "label": ["increased femur yield load"], "label_std": ["increased femur yield load"], "definition": ["increase in load (N) on the femur at which elastic deformation ends"]}, {"iri": "http://purl.obolibrary.org/obo/MP_0013626", "label_eng": ["decreased femur yield load"], "iri_kw": "http://purl.obolibrary.org/obo/MP_0013626", "iri_eng": "http://purl.obolibrary.org/obo/MP_0013626", "category_kw": ["Phenotype"], "definition_kw": ["decrease in load (N) on the femur at which elastic deformation ends"], "definition_std": ["decrease in load (N) on the femur at which elastic deformation ends"], "id_eng": "MP:0013626", "leaf": true, "category_eng": ["Phenotype"], "label_kw": ["decreased femur yield load"], "score": 24.003965, "id_std": "MP:0013626", "id": "MP:0013626", "iri_std": "http://purl.obolibrary.org/obo/MP_0013626", "id_kw": "MP:0013626", "_version_": 1564147997270343680, "category": ["Phenotype"], "category_std": ["Phenotype"], "definition_eng": ["decrease in load (N) on the femur at which elastic deformation ends"], "label": ["decreased femur yield load"], "label_std": ["decreased femur yield load"], "definition": ["decrease in load (N) on the femur at which elastic deformation ends"]}, {"iri": "http://purl.obolibrary.org/obo/MP_0013634", "label_eng": ["increased femur fracture load"], "iri_kw": "http://purl.obolibrary.org/obo/MP_0013634", "iri_eng": "http://purl.obolibrary.org/obo/MP_0013634", "category_kw": ["Phenotype"], "definition_kw": ["increase in the load at which material failure occurs after plastic deformation"], "definition_std": ["increase in the load at which material failure occurs after plastic deformation"], "id_eng": "MP:0013634", "leaf": true, "category_eng": ["Phenotype"], "label_kw": ["increased femur fracture load"], "score": 24.003965, "id_std": "MP:0013634", "id": "MP:0013634", "iri_std": "http://purl.obolibrary.org/obo/MP_0013634", "id_kw": "MP:0013634", "_version_": 1564147997271392257, "category": ["Phenotype"], "category_std": ["Phenotype"], "definition_eng": ["increase in the load at which material failure occurs after plastic deformation"], "label": ["increased femur fracture load"], "label_std": ["increased femur fracture load"], "definition": ["increase in the load at which material failure occurs after plastic deformation"]}, {"iri": "http://purl.obolibrary.org/obo/MP_0013635", "label_eng": ["decreased femur fracture load"], "iri_kw": "http://purl.obolibrary.org/obo/MP_0013635", "iri_eng": "http://purl.obolibrary.org/obo/MP_0013635", "category_kw": ["Phenotype"], "definition_kw": ["decrease in the load at which material failure occurs after plastic deformation"], "definition_std": ["decrease in the load at which material failure occurs after plastic deformation"], "id_eng": "MP:0013635", "leaf": true, "category_eng": ["Phenotype"], "label_kw": ["decreased femur fracture load"], "score": 24.003965, "id_std": "MP:0013635", "id": "MP:0013635", "iri_std": "http://purl.obolibrary.org/obo/MP_0013635", "id_kw": "MP:0013635", "_version_": 1564147997271392258, "category": ["Phenotype"], "category_std": ["Phenotype"], "definition_eng": ["decrease in the load at which material failure occurs after plastic deformation"], "label": ["decreased femur fracture load"], "label_std": ["decreased femur fracture load"], "definition": ["decrease in the load at which material failure occurs after plastic deformation"]}, {"iri": "http://purl.obolibrary.org/obo/MP_0013632", "label_eng": ["increased femur maximal load"], "iri_kw": "http://purl.obolibrary.org/obo/MP_0013632", "iri_eng": "http://purl.obolibrary.org/obo/MP_0013632", "category_kw": ["Phenotype"], "definition_kw": ["increase in the maximal load (N) sustained by the femur"], "definition_std": ["increase in the maximal load (N) sustained by the femur"], "id_eng": "MP:0013632", "leaf": true, "category_eng": ["Phenotype"], "label_kw": ["increased femur maximal load"], "score": 24.003965, "id_std": "MP:0013632", "id": "MP:0013632", "iri_std": "http://purl.obolibrary.org/obo/MP_0013632", "id_kw": "MP:0013632", "_version_": 1564147997271392259, "category": ["Phenotype"], "category_std": ["Phenotype"], "definition_eng": ["increase in the maximal load (N) sustained by the femur"], "label": ["increased femur maximal load"], "label_std": ["increased femur maximal load"], "definition": ["increase in the maximal load (N) sustained by the femur"]}, {"iri": "http://purl.obolibrary.org/obo/MP_0013633", "label_eng": ["decreased femur maximal load"], "iri_kw": "http://purl.obolibrary.org/obo/MP_0013633", "iri_eng": "http://purl.obolibrary.org/obo/MP_0013633", "category_kw": ["Phenotype"], "definition_kw": ["decrease in the maximal load (N) sustained by the femur"], "definition_std": ["decrease in the maximal load (N) sustained by the femur"], "id_eng": "MP:0013633", "leaf": true, "category_eng": ["Phenotype"], "label_kw": ["decreased femur maximal load"], "score": 24.003965, "id_std": "MP:0013633", "id": "MP:0013633", "iri_std": "http://purl.obolibrary.org/obo/MP_0013633", "id_kw": "MP:0013633", "_version_": 1564147997271392260, "category": ["Phenotype"], "category_std": ["Phenotype"], "definition_eng": ["decrease in the maximal load (N) sustained by the femur"], "label": ["decreased femur maximal load"], "label_std": ["decreased femur maximal load"], "definition": ["decrease in the maximal load (N) sustained by the femur"]}, {"iri": "http://purl.obolibrary.org/obo/MP_0013638", "label_eng": ["decreased femur stiffness"], "iri_kw": "http://purl.obolibrary.org/obo/MP_0013638", "iri_eng": "http://purl.obolibrary.org/obo/MP_0013638", "category_kw": ["Phenotype"], "definition_kw": ["decrease in material stiffness (N/mm) during elastic deformation in the femur"], "definition_std": ["decrease in material stiffness (N/mm) during elastic deformation in the femur"], "id_eng": "MP:0013638", "leaf": true, "category_eng": ["Phenotype"], "label_kw": ["decreased femur stiffness"], "score": 24.003965, "id_std": "MP:0013638", "id": "MP:0013638", "iri_std": "http://purl.obolibrary.org/obo/MP_0013638", "id_kw": "MP:0013638", "_version_": 1564147997271392261, "category": ["Phenotype"], "category_std": ["Phenotype"], "definition_eng": ["decrease in material stiffness (N/mm) during elastic deformation in the femur"], "label": ["decreased femur stiffness"], "label_std": ["decreased femur stiffness"], "definition": ["decrease in material stiffness (N/mm) during elastic deformation in the femur"]}, {"iri": "http://purl.obolibrary.org/obo/MP_0013637", "label_eng": ["increased femur stiffness"], "iri_kw": "http://purl.obolibrary.org/obo/MP_0013637", "iri_eng": "http://purl.obolibrary.org/obo/MP_0013637", "category_kw": ["Phenotype"], "definition_kw": ["increase in material stiffness (N/mm) during elastic deformation in the femur"], "definition_std": ["increase in material stiffness (N/mm) during elastic deformation in the femur"], "id_eng": "MP:0013637", "leaf": true, "category_eng": ["Phenotype"], "label_kw": ["increased femur stiffness"], "score": 24.003965, "id_std": "MP:0013637", "id": "MP:0013637", "iri_std": "http://purl.obolibrary.org/obo/MP_0013637", "id_kw": "MP:0013637", "_version_": 1564147997272440834, "category": ["Phenotype"], "category_std": ["Phenotype"], "definition_eng": ["increase in material stiffness (N/mm) during elastic deformation in the femur"], "label": ["increased femur stiffness"], "label_std": ["increased femur stiffness"], "definition": ["increase in material stiffness (N/mm) during elastic deformation in the femur"]}, {"equivalent_iri_kw": ["_:3d4f531cc4bd8eb604bd48b03c0d008d"], "_version_": 1564147988860764160, "equivalent_iri_std": ["_:3d4f531cc4bd8eb604bd48b03c0d008d"], "iri": "http://purl.obolibrary.org/obo/UBERON_0009984PHENOTYPE", "label_eng": ["medial condyle of femur phenotype"], "equivalent_iri_eng": ["_:3d4f531cc4bd8eb604bd48b03c0d008d"], "iri_kw": "http://purl.obolibrary.org/obo/UBERON_0009984PHENOTYPE", "iri_eng": "http://purl.obolibrary.org/obo/UBERON_0009984PHENOTYPE", "category_kw": ["Phenotype"], "definition_std": ["Any phenotype involving medial condyle of femur."], "id_eng": "UBERON:0009984PHENOTYPE", "definition_kw": ["Any phenotype involving medial condyle of femur."], "category_eng": ["Phenotype"], "equivalent_curie_kw": ["_:3d4f531cc4bd8eb604bd48b03c0d008d"], "label_kw": ["medial condyle of femur phenotype"], "score": 24.003965, "id_std": "UBERON:0009984PHENOTYPE", "equivalent_curie_std": ["_:3d4f531cc4bd8eb604bd48b03c0d008d"], "id": "UBERON:0009984PHENOTYPE", "equivalent_iri": ["_:3d4f531cc4bd8eb604bd48b03c0d008d"], "iri_std": "http://purl.obolibrary.org/obo/UBERON_0009984PHENOTYPE", "id_kw": "UBERON:0009984PHENOTYPE", "leaf": true, "category": ["Phenotype"], "category_std": ["Phenotype"], "definition_eng": ["Any phenotype involving medial condyle of femur."], "equivalent_curie_eng": ["_:3d4f531cc4bd8eb604bd48b03c0d008d"], "label": ["medial condyle of femur phenotype"], "label_std": ["medial condyle of femur phenotype"], "definition": ["Any phenotype involving medial condyle of femur."], "equivalent_curie": ["_:3d4f531cc4bd8eb604bd48b03c0d008d"]}, {"category_eng": ["Phenotype"], "_version_": 1564147988892221442, "label_kw": ["Metaphyseal chondromatosis of femur"], "score": 24.003965, "id_std": "HP:0030295", "id": "HP:0030295", "iri": "http://purl.obolibrary.org/obo/HP_0030295", "iri_std": "http://purl.obolibrary.org/obo/HP_0030295", "label_eng": ["Metaphyseal chondromatosis of femur"], "id_kw": "HP:0030295", "leaf": true, "iri_kw": "http://purl.obolibrary.org/obo/HP_0030295", "category": ["Phenotype"], "iri_eng": "http://purl.obolibrary.org/obo/HP_0030295", "category_kw": ["Phenotype"], "label": ["Metaphyseal chondromatosis of femur"], "label_std": ["Metaphyseal chondromatosis of femur"], "id_eng": "HP:0030295", "category_std": ["Phenotype"]}, {"synonym_eng": ["Short fetal thigh bone length"], "synonym_kw": ["Short fetal thigh bone length"], "iri": "http://purl.obolibrary.org/obo/HP_0011428", "label_eng": ["Short fetal femur length"], "iri_kw": "http://purl.obolibrary.org/obo/HP_0011428", "iri_eng": "http://purl.obolibrary.org/obo/HP_0011428", "category_kw": ["Phenotype"], "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_eng": ["Phenotype"], "_version_": 1564148001867300864, "label_kw": ["Short fetal femur length"], "synonym": ["Short fetal thigh bone length"], "score": 24.003965, "id_std": "HP:0011428", "id": "HP:0011428", "iri_std": "http://purl.obolibrary.org/obo/HP_0011428", "id_kw": "HP:0011428", "leaf": true, "category": ["Phenotype"], "category_std": ["Phenotype"], "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)."], "label": ["Short fetal femur length"], "label_std": ["Short fetal femur length"], "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_std": ["Short fetal thigh bone length"]}, {"equivalent_iri_kw": ["_:6de9cdbcfbbc13393d6cd8911456eb21"], "_version_": 1564148003114057729, "equivalent_iri_std": ["_:6de9cdbcfbbc13393d6cd8911456eb21"], "iri": "http://purl.obolibrary.org/obo/UBERON_0004412PHENOTYPE", "label_eng": ["proximal epiphysis of femur phenotype"], "equivalent_iri_eng": ["_:6de9cdbcfbbc13393d6cd8911456eb21"], "iri_kw": "http://purl.obolibrary.org/obo/UBERON_0004412PHENOTYPE", "iri_eng": "http://purl.obolibrary.org/obo/UBERON_0004412PHENOTYPE", "category_kw": ["Phenotype"], "definition_std": ["Any phenotype involving proximal epiphysis of femur."], "id_eng": "UBERON:0004412PHENOTYPE", "definition_kw": ["Any phenotype involving proximal epiphysis of femur."], "category_eng": ["Phenotype"], "equivalent_curie_kw": ["_:6de9cdbcfbbc13393d6cd8911456eb21"], "label_kw": ["proximal epiphysis of femur phenotype"], "score": 24.003965, "id_std": "UBERON:0004412PHENOTYPE", "equivalent_curie_std": ["_:6de9cdbcfbbc13393d6cd8911456eb21"], "id": "UBERON:0004412PHENOTYPE", "equivalent_iri": ["_:6de9cdbcfbbc13393d6cd8911456eb21"], "iri_std": "http://purl.obolibrary.org/obo/UBERON_0004412PHENOTYPE", "id_kw": "UBERON:0004412PHENOTYPE", "leaf": false, "category": ["Phenotype"], "category_std": ["Phenotype"], "definition_eng": ["Any phenotype involving proximal epiphysis of femur."], "equivalent_curie_eng": ["_:6de9cdbcfbbc13393d6cd8911456eb21"], "label": ["proximal epiphysis of femur phenotype"], "label_std": ["proximal epiphysis of femur phenotype"], "definition": ["Any phenotype involving proximal epiphysis of femur."], "equivalent_curie": ["_:6de9cdbcfbbc13393d6cd8911456eb21"]}, {"equivalent_iri_kw": ["_:5ec2fecab0f76479a24fa64e484ad832"], "_version_": 1564148003494690820, "equivalent_iri_std": ["_:5ec2fecab0f76479a24fa64e484ad832"], "iri": "http://purl.obolibrary.org/obo/UBERON_0006865PHENOTYPE", "label_eng": ["metaphysis of femur phenotype"], "equivalent_iri_eng": ["_:5ec2fecab0f76479a24fa64e484ad832"], "iri_kw": "http://purl.obolibrary.org/obo/UBERON_0006865PHENOTYPE", "iri_eng": "http://purl.obolibrary.org/obo/UBERON_0006865PHENOTYPE", "category_kw": ["Phenotype"], "definition_std": ["Any phenotype involving metaphysis of femur."], "id_eng": "UBERON:0006865PHENOTYPE", "definition_kw": ["Any phenotype involving metaphysis of femur."], "category_eng": ["Phenotype"], "equivalent_curie_kw": ["_:5ec2fecab0f76479a24fa64e484ad832"], "label_kw": ["metaphysis of femur phenotype"], "score": 24.003965, "id_std": "UBERON:0006865PHENOTYPE", "equivalent_curie_std": ["_:5ec2fecab0f76479a24fa64e484ad832"], "id": "UBERON:0006865PHENOTYPE", "equivalent_iri": ["_:5ec2fecab0f76479a24fa64e484ad832"], "iri_std": "http://purl.obolibrary.org/obo/UBERON_0006865PHENOTYPE", "id_kw": "UBERON:0006865PHENOTYPE", "leaf": false, "category": ["Phenotype"], "category_std": ["Phenotype"], "definition_eng": ["Any phenotype involving metaphysis of femur."], "equivalent_curie_eng": ["_:5ec2fecab0f76479a24fa64e484ad832"], "label": ["metaphysis of femur phenotype"], "label_std": ["metaphysis of femur phenotype"], "definition": ["Any phenotype involving metaphysis of femur."], "equivalent_curie": ["_:5ec2fecab0f76479a24fa64e484ad832"]}, {"taxon_eng": "NCBITaxon:7227", "taxon_label_synonym": ["fruit fly", "Sophophora melanogaster", "Drosophila melangaster"], "taxon_std": "NCBITaxon:7227", "equivalent_curie": ["FlyBase:FBgn0004198"], "taxon_label_eng": "Drosophila melanogaster", "synonym_kw": ["CG11387-PE", "CG11387 gene product from transcript CG11387-RE", "cut", "CUT", "Cut", "CG11387-PA", "Dmel\\CG11387", "ct-PA", "CG11387-PC", "l(1)VE614", "CG11387-PD", "ct-PC", "l(1)7Ba", "l(1)7Bb", "kinked-femur", "CT", "Ct", "BcDNA:GH10590", "ct-PD", "ct-PE", "kf", "CG11387"], "equivalent_iri_std": ["http://flybase.org/reports/FBgn0004198"], "iri": "http://www.ncbi.nlm.nih.gov/gene/44540", "_version_": 1564148250425950212, "label_eng": ["ct"], "taxon_kw": "NCBITaxon:7227", "iri_kw": "http://www.ncbi.nlm.nih.gov/gene/44540", "taxon_label_kw": "Drosophila melanogaster", "iri_eng": "http://www.ncbi.nlm.nih.gov/gene/44540", "category_kw": ["gene"], "taxon_label_synonym_std": ["fruit fly", "Sophophora melanogaster", "Drosophila melangaster"], "synonym_eng": ["CG11387-PE", "CG11387 gene product from transcript CG11387-RE", "cut", "CUT", "Cut", "CG11387-PA", "Dmel\\CG11387", "ct-PA", "CG11387-PC", "l(1)VE614", "CG11387-PD", "ct-PC", "l(1)7Ba", "l(1)7Bb", "kinked-femur", "CT", "Ct", "BcDNA:GH10590", "ct-PD", "ct-PE", "kf", "CG11387"], "id_kw": "NCBIGene:44540", "id_eng": "NCBIGene:44540", "category": ["gene"], "category_eng": ["gene"], "equivalent_curie_kw": ["FlyBase:FBgn0004198"], "label_kw": ["ct"], "synonym": ["CG11387-PE", "CG11387 gene product from transcript CG11387-RE", "cut", "CUT", "Cut", "CG11387-PA", "Dmel\\CG11387", "ct-PA", "CG11387-PC", "l(1)VE614", "CG11387-PD", "ct-PC", "l(1)7Ba", "l(1)7Bb", "kinked-femur", "CT", "Ct", "BcDNA:GH10590", "ct-PD", "ct-PE", "kf", "CG11387"], "score": 23.05011, "id_std": "NCBIGene:44540", "equivalent_curie_std": ["FlyBase:FBgn0004198"], "id": "NCBIGene:44540", "equivalent_iri": ["http://flybase.org/reports/FBgn0004198"], "iri_std": "http://www.ncbi.nlm.nih.gov/gene/44540", "equivalent_iri_kw": ["http://flybase.org/reports/FBgn0004198"], "taxon": "NCBITaxon:7227", "leaf": true, "taxon_label_synonym_kw": ["fruit fly", "Sophophora melanogaster", "Drosophila melangaster"], "category_std": ["gene"], "equivalent_curie_eng": ["FlyBase:FBgn0004198"], "label": ["ct"], "taxon_label_std": "Drosophila melanogaster", "equivalent_iri_eng": ["http://flybase.org/reports/FBgn0004198"], "label_std": ["ct"], "synonym_std": ["CG11387-PE", "CG11387 gene product from transcript CG11387-RE", "cut", "CUT", "Cut", "CG11387-PA", "Dmel\\CG11387", "ct-PA", "CG11387-PC", "l(1)VE614", "CG11387-PD", "ct-PC", "l(1)7Ba", "l(1)7Bb", "kinked-femur", "CT", "Ct", "BcDNA:GH10590", "ct-PD", "ct-PE", "kf", "CG11387"], "taxon_label_synonym_eng": ["fruit fly", "Sophophora melanogaster", "Drosophila melangaster"], "taxon_label": "Drosophila melanogaster"}, {"category_eng": ["disease"], "_version_": 1564147989172191235, "label_kw": ["Dysplasia of head of femur, Meyer type"], "score": 22.306461, "id_std": "Orphanet:168621", "id": "Orphanet:168621", "iri": "http://www.orpha.net/ORDO/Orphanet_168621", "iri_std": "http://www.orpha.net/ORDO/Orphanet_168621", "label_eng": ["Dysplasia of head of femur, Meyer type"], "id_kw": "Orphanet:168621", "leaf": true, "iri_kw": "http://www.orpha.net/ORDO/Orphanet_168621", "category": ["disease"], "iri_eng": "http://www.orpha.net/ORDO/Orphanet_168621", "category_kw": ["disease"], "label": ["Dysplasia of head of femur, Meyer type"], "label_std": ["Dysplasia of head of femur, Meyer type"], "id_eng": "Orphanet:168621", "category_std": ["disease"]}, {"equivalent_iri_kw": ["_:12f24c672f703d52ee2fd7ac7c4454f9"], "_version_": 1564148001090306050, "equivalent_iri_std": ["_:12f24c672f703d52ee2fd7ac7c4454f9"], "iri": "http://purl.obolibrary.org/obo/UBERON_0006234PHENOTYPE", "label_eng": ["femur pre-cartilage condensation phenotype"], "equivalent_iri_eng": ["_:12f24c672f703d52ee2fd7ac7c4454f9"], "iri_kw": "http://purl.obolibrary.org/obo/UBERON_0006234PHENOTYPE", "iri_eng": "http://purl.obolibrary.org/obo/UBERON_0006234PHENOTYPE", "category_kw": ["Phenotype"], "definition_std": ["Any phenotype involving femur pre-cartilage condensation."], "id_eng": "UBERON:0006234PHENOTYPE", "definition_kw": ["Any phenotype involving femur pre-cartilage condensation."], "category_eng": ["Phenotype"], "equivalent_curie_kw": ["_:12f24c672f703d52ee2fd7ac7c4454f9"], "label_kw": ["femur pre-cartilage condensation phenotype"], "score": 22.306461, "id_std": "UBERON:0006234PHENOTYPE", "equivalent_curie_std": ["_:12f24c672f703d52ee2fd7ac7c4454f9"], "id": "UBERON:0006234PHENOTYPE", "equivalent_iri": ["_:12f24c672f703d52ee2fd7ac7c4454f9"], "iri_std": "http://purl.obolibrary.org/obo/UBERON_0006234PHENOTYPE", "id_kw": "UBERON:0006234PHENOTYPE", "leaf": true, "category": ["Phenotype"], "category_std": ["Phenotype"], "definition_eng": ["Any phenotype involving femur pre-cartilage condensation."], "equivalent_curie_eng": ["_:12f24c672f703d52ee2fd7ac7c4454f9"], "label": ["femur pre-cartilage condensation phenotype"], "label_std": ["femur pre-cartilage condensation phenotype"], "definition": ["Any phenotype involving femur pre-cartilage condensation."], "equivalent_curie": ["_:12f24c672f703d52ee2fd7ac7c4454f9"]}, {"iri": "http://purl.obolibrary.org/obo/MP_0013645", "label_eng": ["increased energy dissipated prior to femur fracture"], "iri_kw": "http://purl.obolibrary.org/obo/MP_0013645", "iri_eng": "http://purl.obolibrary.org/obo/MP_0013645", "category_kw": ["Phenotype"], "definition_kw": ["increase in the fraction of total energy dissapated prior to ultimate material failure (low energy fracture) by the femur"], "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", "leaf": true, "category_eng": ["Phenotype"], "label_kw": ["increased energy dissipated prior to femur fracture"], "score": 20.114803, "id_std": "MP:0013645", "id": "MP:0013645", "iri_std": "http://purl.obolibrary.org/obo/MP_0013645", "id_kw": "MP:0013645", "_version_": 1564147997273489409, "category": ["Phenotype"], "category_std": ["Phenotype"], "definition_eng": ["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"], "label_std": ["increased energy dissipated prior to femur fracture"], "definition": ["increase in the fraction of total energy dissapated prior to ultimate material failure (low energy fracture) by the femur"]}, {"iri": "http://purl.obolibrary.org/obo/MP_0013646", "label_eng": ["decreased energy dissipated prior to femur fracture"], "iri_kw": "http://purl.obolibrary.org/obo/MP_0013646", "iri_eng": "http://purl.obolibrary.org/obo/MP_0013646", "category_kw": ["Phenotype"], "definition_kw": ["decrease in the fraction of total energy dissapated prior to ultimate material failure (high energy fracture) by the femur"], "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", "leaf": true, "category_eng": ["Phenotype"], "label_kw": ["decreased energy dissipated prior to femur fracture"], "score": 20.114803, "id_std": "MP:0013646", "id": "MP:0013646", "iri_std": "http://purl.obolibrary.org/obo/MP_0013646", "id_kw": "MP:0013646", "_version_": 1564147997273489410, "category": ["Phenotype"], "category_std": ["Phenotype"], "definition_eng": ["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"], "label_std": ["decreased energy dissipated prior to femur fracture"], "definition": ["decrease in the fraction of total energy dissapated prior to ultimate material failure (high energy fracture) by the femur"]}, {"equivalent_iri_kw": ["_:fabb26e4306bb86f26ea3d6a0124910e"], "synonym_eng": ["Abnormality of thighbone end part"], "synonym_kw": ["Abnormality of thighbone end part"], "equivalent_iri_std": ["_:fabb26e4306bb86f26ea3d6a0124910e"], "iri": "http://purl.obolibrary.org/obo/HP_0006499", "_version_": 1564148010474012673, "label_eng": ["Abnormality of femoral epiphysis"], "equivalent_iri_eng": ["_:fabb26e4306bb86f26ea3d6a0124910e"], "iri_kw": "http://purl.obolibrary.org/obo/HP_0006499", "iri_eng": "http://purl.obolibrary.org/obo/HP_0006499", "category_kw": ["Phenotype"], "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."], "category_eng": ["Phenotype"], "equivalent_curie_kw": ["_:fabb26e4306bb86f26ea3d6a0124910e"], "label_kw": ["Abnormality of femoral epiphysis"], "synonym": ["Abnormality of thighbone end part"], "score": 19.95135, "id_std": "HP:0006499", "equivalent_curie_std": ["_:fabb26e4306bb86f26ea3d6a0124910e"], "id": "HP:0006499", "equivalent_iri": ["_:fabb26e4306bb86f26ea3d6a0124910e"], "iri_std": "http://purl.obolibrary.org/obo/HP_0006499", "id_kw": "HP:0006499", "leaf": false, "category": ["Phenotype"], "category_std": ["Phenotype"], "definition_eng": ["An anomaly of a growth plate of a femur."], "equivalent_curie_eng": ["_:fabb26e4306bb86f26ea3d6a0124910e"], "label": ["Abnormality of femoral epiphysis"], "label_std": ["Abnormality of femoral epiphysis"], "definition": ["An anomaly of a growth plate of a femur."], "synonym_std": ["Abnormality of thighbone end part"], "equivalent_curie": ["_:fabb26e4306bb86f26ea3d6a0124910e"]}, {"synonym_eng": ["Flattended end part of thigh bone"], "synonym_kw": ["Flattended end part of thigh bone"], "iri": "http://purl.obolibrary.org/obo/HP_0030289", "label_eng": ["Flattened femoral epiphysis"], "iri_kw": "http://purl.obolibrary.org/obo/HP_0030289", "iri_eng": "http://purl.obolibrary.org/obo/HP_0030289", "category_kw": ["Phenotype"], "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_eng": ["Phenotype"], "_version_": 1564147988893270016, "label_kw": ["Flattened femoral epiphysis"], "synonym": ["Flattended end part of thigh bone"], "score": 19.95135, "id_std": "HP:0030289", "id": "HP:0030289", "iri_std": "http://purl.obolibrary.org/obo/HP_0030289", "id_kw": "HP:0030289", "leaf": false, "category": ["Phenotype"], "category_std": ["Phenotype"], "definition_eng": ["An abnormal flattening of an epiphysis of femur."], "label": ["Flattened femoral epiphysis"], "label_std": ["Flattened femoral epiphysis"], "definition": ["An abnormal flattening of an epiphysis of femur."], "synonym_std": ["Flattended end part of thigh bone"]}, {"equivalent_iri_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"], "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"], "equivalent_iri_std": ["_:d2ca0ddb17029453b6da9a670660497a"], "iri": "http://purl.obolibrary.org/obo/HP_0003090", "_version_": 1564148007871447041, "label_eng": ["Hypoplasia of the capital femoral epiphysis"], "equivalent_iri_eng": ["_:d2ca0ddb17029453b6da9a670660497a"], "iri_kw": "http://purl.obolibrary.org/obo/HP_0003090", "iri_eng": "http://purl.obolibrary.org/obo/HP_0003090", "category_kw": ["Phenotype"], "definition_std": ["Underdevelopment of the proximal epiphysis of the femur."], "id_eng": "HP:0003090", "definition_kw": ["Underdevelopment of the proximal epiphysis of the femur."], "category_eng": ["Phenotype"], "equivalent_curie_kw": ["_:d2ca0ddb17029453b6da9a670660497a"], "label_kw": ["Hypoplasia of the capital femoral epiphysis"], "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"], "score": 19.399048, "id_std": "HP:0003090", "equivalent_curie_std": ["_:d2ca0ddb17029453b6da9a670660497a"], "id": "HP:0003090", "equivalent_iri": ["_:d2ca0ddb17029453b6da9a670660497a"], "iri_std": "http://purl.obolibrary.org/obo/HP_0003090", "id_kw": "HP:0003090", "leaf": true, "category": ["Phenotype"], "category_std": ["Phenotype"], "definition_eng": ["Underdevelopment of the proximal epiphysis of the femur."], "equivalent_curie_eng": ["_:d2ca0ddb17029453b6da9a670660497a"], "label": ["Hypoplasia of the capital femoral epiphysis"], "label_std": ["Hypoplasia of the capital femoral epiphysis"], "definition": ["Underdevelopment of the proximal epiphysis of the femur."], "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"], "equivalent_curie": ["_:d2ca0ddb17029453b6da9a670660497a"]}, {"equivalent_iri_kw": ["_:42d91fe4c8fe588e6bb4c81df5d88cce"], "synonym_eng": ["Enlarged end part of innermost thighbone", "Enlarged capital femoral epiphyses"], "synonym_kw": ["Enlarged end part of innermost thighbone", "Enlarged capital femoral epiphyses"], "equivalent_iri_std": ["_:42d91fe4c8fe588e6bb4c81df5d88cce"], "iri": "http://purl.obolibrary.org/obo/HP_0003371", "_version_": 1564148008135688194, "label_eng": ["Enlargement of the proximal femoral epiphysis"], "equivalent_iri_eng": ["_:42d91fe4c8fe588e6bb4c81df5d88cce"], "iri_kw": "http://purl.obolibrary.org/obo/HP_0003371", "iri_eng": "http://purl.obolibrary.org/obo/HP_0003371", "category_kw": ["Phenotype"], "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."], "category_eng": ["Phenotype"], "equivalent_curie_kw": ["_:42d91fe4c8fe588e6bb4c81df5d88cce"], "label_kw": ["Enlargement of the proximal femoral epiphysis"], "synonym": ["Enlarged end part of innermost thighbone", "Enlarged capital femoral epiphyses"], "score": 19.399048, "id_std": "HP:0003371", "equivalent_curie_std": ["_:42d91fe4c8fe588e6bb4c81df5d88cce"], "id": "HP:0003371", "equivalent_iri": ["_:42d91fe4c8fe588e6bb4c81df5d88cce"], "iri_std": "http://purl.obolibrary.org/obo/HP_0003371", "id_kw": "HP:0003371", "leaf": false, "category": ["Phenotype"], "category_std": ["Phenotype"], "definition_eng": ["An abnormal enlargement of the proximal epiphysis of the femur."], "equivalent_curie_eng": ["_:42d91fe4c8fe588e6bb4c81df5d88cce"], "label": ["Enlargement of the proximal femoral epiphysis"], "label_std": ["Enlargement of the proximal femoral epiphysis"], "definition": ["An abnormal enlargement of the proximal epiphysis of the femur."], "synonym_std": ["Enlarged end part of innermost thighbone", "Enlarged capital femoral epiphyses"], "equivalent_curie": ["_:42d91fe4c8fe588e6bb4c81df5d88cce"]}, {"equivalent_iri_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"], "synonym_kw": ["Flat end part of innermost thighbone", "Flat femoral capital epiphyses", "Flat capital femoral epiphyses", "Flat proximal femoral epiphyses", "Flattened proximal femoral epiphyses"], "equivalent_iri_std": ["_:c5ab290b9613448449c2f5414fa69007"], "iri": "http://purl.obolibrary.org/obo/HP_0003370", "_version_": 1564148008136736768, "label_eng": ["Flat capital femoral epiphysis"], "equivalent_iri_eng": ["_:c5ab290b9613448449c2f5414fa69007"], "iri_kw": "http://purl.obolibrary.org/obo/HP_0003370", "iri_eng": "http://purl.obolibrary.org/obo/HP_0003370", "category_kw": ["Phenotype"], "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."], "category_eng": ["Phenotype"], "equivalent_curie_kw": ["_:c5ab290b9613448449c2f5414fa69007"], "label_kw": ["Flat capital femoral epiphysis"], "synonym": ["Flat end part of innermost thighbone", "Flat femoral capital epiphyses", "Flat capital femoral epiphyses", "Flat proximal femoral epiphyses", "Flattened proximal femoral epiphyses"], "score": 19.399048, "id_std": "HP:0003370", "equivalent_curie_std": ["_:c5ab290b9613448449c2f5414fa69007"], "id": "HP:0003370", "equivalent_iri": ["_:c5ab290b9613448449c2f5414fa69007"], "iri_std": "http://purl.obolibrary.org/obo/HP_0003370", "id_kw": "HP:0003370", "leaf": true, "category": ["Phenotype"], "category_std": ["Phenotype"], "definition_eng": ["An abnormal flattening of the proximal epiphysis of the femur."], "equivalent_curie_eng": ["_:c5ab290b9613448449c2f5414fa69007"], "label": ["Flat capital femoral epiphysis"], "label_std": ["Flat capital femoral epiphysis"], "definition": ["An abnormal flattening of the proximal epiphysis of the femur."], "synonym_std": ["Flat end part of innermost thighbone", "Flat femoral capital epiphyses", "Flat capital femoral epiphyses", "Flat proximal femoral epiphyses", "Flattened proximal femoral epiphyses"], "equivalent_curie": ["_:c5ab290b9613448449c2f5414fa69007"]}, {"iri": "http://purl.obolibrary.org/obo/HP_0005090", "label_eng": ["Lateral femoral bowing"], "iri_kw": "http://purl.obolibrary.org/obo/HP_0005090", "iri_eng": "http://purl.obolibrary.org/obo/HP_0005090", "category_kw": ["Phenotype"], "definition_kw": ["A lateral bending or abnormal curvature of the femur."], "definition_std": ["A lateral bending or abnormal curvature of the femur."], "id_eng": "HP:0005090", "leaf": true, "category_eng": ["Phenotype"], "label_kw": ["Lateral femoral bowing"], "score": 19.399048, "id_std": "HP:0005090", "id": "HP:0005090", "iri_std": "http://purl.obolibrary.org/obo/HP_0005090", "id_kw": "HP:0005090", "_version_": 1564148009507225602, "category": ["Phenotype"], "category_std": ["Phenotype"], "definition_eng": ["A lateral bending or abnormal curvature of the femur."], "label": ["Lateral femoral bowing"], "label_std": ["Lateral femoral bowing"], "definition": ["A lateral bending or abnormal curvature of the femur."]}, {"equivalent_iri_kw": ["_:906479aa0170f3cebe101c7bc14b5162"], "synonym_eng": ["Absent/underdeveloped end part of innermost thighbone", "Absent/small end part of innermost thighbone"], "synonym_kw": ["Absent/underdeveloped end part of innermost thighbone", "Absent/small end part of innermost thighbone"], "equivalent_iri_std": ["_:906479aa0170f3cebe101c7bc14b5162"], "iri": "http://purl.obolibrary.org/obo/HP_0005003", "_version_": 1564148009511419906, "label_eng": ["Aplasia/Hypoplasia of the capital femoral epiphysis"], "equivalent_iri_eng": ["_:906479aa0170f3cebe101c7bc14b5162"], "iri_kw": "http://purl.obolibrary.org/obo/HP_0005003", "iri_eng": "http://purl.obolibrary.org/obo/HP_0005003", "category_kw": ["Phenotype"], "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."], "category_eng": ["Phenotype"], "equivalent_curie_kw": ["_:906479aa0170f3cebe101c7bc14b5162"], "label_kw": ["Aplasia/Hypoplasia of the capital femoral epiphysis"], "synonym": ["Absent/underdeveloped end part of innermost thighbone", "Absent/small end part of innermost thighbone"], "score": 19.399048, "id_std": "HP:0005003", "equivalent_curie_std": ["_:906479aa0170f3cebe101c7bc14b5162"], "id": "HP:0005003", "equivalent_iri": ["_:906479aa0170f3cebe101c7bc14b5162"], "iri_std": "http://purl.obolibrary.org/obo/HP_0005003", "id_kw": "HP:0005003", "leaf": false, "category": ["Phenotype"], "category_std": ["Phenotype"], "definition_eng": ["Absence or underdevelopment of the proximal epiphysis of the femur."], "equivalent_curie_eng": ["_:906479aa0170f3cebe101c7bc14b5162"], "label": ["Aplasia/Hypoplasia of the capital femoral epiphysis"], "label_std": ["Aplasia/Hypoplasia of the capital femoral epiphysis"], "definition": ["Absence or underdevelopment of the proximal epiphysis of the femur."], "synonym_std": ["Absent/underdeveloped end part of innermost thighbone", "Absent/small end part of innermost thighbone"], "equivalent_curie": ["_:906479aa0170f3cebe101c7bc14b5162"]}, {"equivalent_iri_kw": ["_:a79ce51c07ccec492a4dfed33e1c5bb0"], "synonym_eng": ["Flat end part of outermost thighbone", "Flattened distal femoral epiphyses"], "synonym_kw": ["Flat end part of outermost thighbone", "Flattened distal femoral epiphyses"], "equivalent_iri_std": ["_:a79ce51c07ccec492a4dfed33e1c5bb0"], "iri": "http://purl.obolibrary.org/obo/HP_0006398", "_version_": 1564148010276880387, "label_eng": ["Flat distal femoral epiphysis"], "equivalent_iri_eng": ["_:a79ce51c07ccec492a4dfed33e1c5bb0"], "iri_kw": "http://purl.obolibrary.org/obo/HP_0006398", "iri_eng": "http://purl.obolibrary.org/obo/HP_0006398", "category_kw": ["Phenotype"], "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."], "category_eng": ["Phenotype"], "equivalent_curie_kw": ["_:a79ce51c07ccec492a4dfed33e1c5bb0"], "label_kw": ["Flat distal femoral epiphysis"], "synonym": ["Flat end part of outermost thighbone", "Flattened distal femoral epiphyses"], "score": 19.399048, "id_std": "HP:0006398", "equivalent_curie_std": ["_:a79ce51c07ccec492a4dfed33e1c5bb0"], "id": "HP:0006398", "equivalent_iri": ["_:a79ce51c07ccec492a4dfed33e1c5bb0"], "iri_std": "http://purl.obolibrary.org/obo/HP_0006398", "id_kw": "HP:0006398", "leaf": true, "category": ["Phenotype"], "category_std": ["Phenotype"], "definition_eng": ["An abnormal flattening of the distal epiphysis of femur."], "equivalent_curie_eng": ["_:a79ce51c07ccec492a4dfed33e1c5bb0"], "label": ["Flat distal femoral epiphysis"], "label_std": ["Flat distal femoral epiphysis"], "definition": ["An abnormal flattening of the distal epiphysis of femur."], "synonym_std": ["Flat end part of outermost thighbone", "Flattened distal femoral epiphyses"], "equivalent_curie": ["_:a79ce51c07ccec492a4dfed33e1c5bb0"]}, {"equivalent_iri_kw": ["_:ff4026ad8d2d7cc50370b9b30d1eb248"], "synonym_eng": ["Enlargement of the outermost thighbone end part", "Large distal femoral epiphyses"], "synonym_kw": ["Enlargement of the outermost thighbone end part", "Large distal femoral epiphyses"], "equivalent_iri_std": ["_:ff4026ad8d2d7cc50370b9b30d1eb248"], "iri": "http://purl.obolibrary.org/obo/HP_0006438", "_version_": 1564148010456186882, "label_eng": ["Enlargement of the distal femoral epiphysis"], "equivalent_iri_eng": ["_:ff4026ad8d2d7cc50370b9b30d1eb248"], "iri_kw": "http://purl.obolibrary.org/obo/HP_0006438", "iri_eng": "http://purl.obolibrary.org/obo/HP_0006438", "category_kw": ["Phenotype"], "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."], "category_eng": ["Phenotype"], "equivalent_curie_kw": ["_:ff4026ad8d2d7cc50370b9b30d1eb248"], "label_kw": ["Enlargement of the distal femoral epiphysis"], "synonym": ["Enlargement of the outermost thighbone end part", "Large distal femoral epiphyses"], "score": 19.399048, "id_std": "HP:0006438", "equivalent_curie_std": ["_:ff4026ad8d2d7cc50370b9b30d1eb248"], "id": "HP:0006438", "equivalent_iri": ["_:ff4026ad8d2d7cc50370b9b30d1eb248"], "iri_std": "http://purl.obolibrary.org/obo/HP_0006438", "id_kw": "HP:0006438", "leaf": true, "category": ["Phenotype"], "category_std": ["Phenotype"], "definition_eng": ["An abnormal enlargement of the distal epiphysis of the femur."], "equivalent_curie_eng": ["_:ff4026ad8d2d7cc50370b9b30d1eb248"], "label": ["Enlargement of the distal femoral epiphysis"], "label_std": ["Enlargement of the distal femoral epiphysis"], "definition": ["An abnormal enlargement of the distal epiphysis of the femur."], "synonym_std": ["Enlargement of the outermost thighbone end part", "Large distal femoral epiphyses"], "equivalent_curie": ["_:ff4026ad8d2d7cc50370b9b30d1eb248"]}, {"equivalent_iri_kw": ["_:08bf8e5bb8779f995aa2111426ee2b73"], "synonym_eng": ["Absent ossification of femoral capital epiphyses"], "synonym_kw": ["Absent ossification of femoral capital epiphyses"], "equivalent_iri_std": ["_:08bf8e5bb8779f995aa2111426ee2b73"], "iri": "http://purl.obolibrary.org/obo/HP_0008820", "_version_": 1564148012970672131, "label_eng": ["Absent ossification of capital femoral epiphysis"], "equivalent_iri_eng": ["_:08bf8e5bb8779f995aa2111426ee2b73"], "iri_kw": "http://purl.obolibrary.org/obo/HP_0008820", "iri_eng": "http://purl.obolibrary.org/obo/HP_0008820", "category_kw": ["Phenotype"], "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."], "category_eng": ["Phenotype"], "equivalent_curie_kw": ["_:08bf8e5bb8779f995aa2111426ee2b73"], "label_kw": ["Absent ossification of capital femoral epiphysis"], "synonym": ["Absent ossification of femoral capital epiphyses"], "score": 19.399048, "id_std": "HP:0008820", "equivalent_curie_std": ["_:08bf8e5bb8779f995aa2111426ee2b73"], "id": "HP:0008820", "equivalent_iri": ["_:08bf8e5bb8779f995aa2111426ee2b73"], "iri_std": "http://purl.obolibrary.org/obo/HP_0008820", "id_kw": "HP:0008820", "leaf": true, "category": ["Phenotype"], "category_std": ["Phenotype"], "definition_eng": ["Lack of ossification of the proximal epiphysis of the femur."], "equivalent_curie_eng": ["_:08bf8e5bb8779f995aa2111426ee2b73"], "label": ["Absent ossification of capital femoral epiphysis"], "label_std": ["Absent ossification of capital femoral epiphysis"], "definition": ["Lack of ossification of the proximal epiphysis of the femur."], "synonym_std": ["Absent ossification of femoral capital epiphyses"], "equivalent_curie": ["_:08bf8e5bb8779f995aa2111426ee2b73"]}, {"equivalent_iri_kw": ["_:2e795298b8e0c60c8db29d1f82a5600c"], "synonym_eng": ["Abnormality of the proximal femoral epiphysis", "Abnormality of the end part of the innermost thighbone"], "synonym_kw": ["Abnormality of the proximal femoral epiphysis", "Abnormality of the end part of the innermost thighbone"], "equivalent_iri_std": ["_:2e795298b8e0c60c8db29d1f82a5600c"], "iri": "http://purl.obolibrary.org/obo/HP_0010574", "_version_": 1564147997773660162, "label_eng": ["Abnormality of the epiphysis of the femoral head"], "equivalent_iri_eng": ["_:2e795298b8e0c60c8db29d1f82a5600c"], "iri_kw": "http://purl.obolibrary.org/obo/HP_0010574", "iri_eng": "http://purl.obolibrary.org/obo/HP_0010574", "category_kw": ["Phenotype"], "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."], "category_eng": ["Phenotype"], "equivalent_curie_kw": ["_:2e795298b8e0c60c8db29d1f82a5600c"], "label_kw": ["Abnormality of the epiphysis of the femoral head"], "synonym": ["Abnormality of the proximal femoral epiphysis", "Abnormality of the end part of the innermost thighbone"], "score": 19.399048, "id_std": "HP:0010574", "equivalent_curie_std": ["_:2e795298b8e0c60c8db29d1f82a5600c"], "id": "HP:0010574", "equivalent_iri": ["_:2e795298b8e0c60c8db29d1f82a5600c"], "iri_std": "http://purl.obolibrary.org/obo/HP_0010574", "id_kw": "HP:0010574", "leaf": false, "category": ["Phenotype"], "category_std": ["Phenotype"], "definition_eng": ["Any abnormality of the proximal epiphysis of the femur."], "equivalent_curie_eng": ["_:2e795298b8e0c60c8db29d1f82a5600c"], "label": ["Abnormality of the epiphysis of the femoral head"], "label_std": ["Abnormality of the epiphysis of the femoral head"], "definition": ["Any abnormality of the proximal epiphysis of the femur."], "synonym_std": ["Abnormality of the proximal femoral epiphysis", "Abnormality of the end part of the innermost thighbone"], "equivalent_curie": ["_:2e795298b8e0c60c8db29d1f82a5600c"]}, {"equivalent_iri_kw": ["_:643c23c8da59c2e1371df255a0379aca"], "synonym_eng": ["Abnormality of the end part of the outermost thighbone"], "synonym_kw": ["Abnormality of the end part of the outermost thighbone"], "equivalent_iri_std": ["_:643c23c8da59c2e1371df255a0379aca"], "iri": "http://purl.obolibrary.org/obo/HP_0010590", "_version_": 1564147997779951616, "label_eng": ["Abnormality of the distal femoral epiphysis"], "equivalent_iri_eng": ["_:643c23c8da59c2e1371df255a0379aca"], "iri_kw": "http://purl.obolibrary.org/obo/HP_0010590", "iri_eng": "http://purl.obolibrary.org/obo/HP_0010590", "category_kw": ["Phenotype"], "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."], "category_eng": ["Phenotype"], "equivalent_curie_kw": ["_:643c23c8da59c2e1371df255a0379aca"], "label_kw": ["Abnormality of the distal femoral epiphysis"], "synonym": ["Abnormality of the end part of the outermost thighbone"], "score": 19.399048, "id_std": "HP:0010590", "equivalent_curie_std": ["_:643c23c8da59c2e1371df255a0379aca"], "id": "HP:0010590", "equivalent_iri": ["_:643c23c8da59c2e1371df255a0379aca"], "iri_std": "http://purl.obolibrary.org/obo/HP_0010590", "id_kw": "HP:0010590", "leaf": false, "category": ["Phenotype"], "category_std": ["Phenotype"], "definition_eng": ["Any abnormality of the distal epiphysis of the femur."], "equivalent_curie_eng": ["_:643c23c8da59c2e1371df255a0379aca"], "label": ["Abnormality of the distal femoral epiphysis"], "label_std": ["Abnormality of the distal femoral epiphysis"], "definition": ["Any abnormality of the distal epiphysis of the femur."], "synonym_std": ["Abnormality of the end part of the outermost thighbone"], "equivalent_curie": ["_:643c23c8da59c2e1371df255a0379aca"]}, {"synonym_eng": ["Small end part of outermost thighbone"], "synonym_kw": ["Small end part of outermost thighbone"], "iri": "http://purl.obolibrary.org/obo/HP_0012283", "label_eng": ["Small distal femoral epiphysis"], "iri_kw": "http://purl.obolibrary.org/obo/HP_0012283", "iri_eng": "http://purl.obolibrary.org/obo/HP_0012283", "category_kw": ["Phenotype"], "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_eng": ["Phenotype"], "_version_": 1564148002760687618, "label_kw": ["Small distal femoral epiphysis"], "synonym": ["Small end part of outermost thighbone"], "score": 19.399048, "id_std": "HP:0012283", "id": "HP:0012283", "iri_std": "http://purl.obolibrary.org/obo/HP_0012283", "id_kw": "HP:0012283", "leaf": true, "category": ["Phenotype"], "category_std": ["Phenotype"], "definition_eng": ["Reduced size of the Distal epiphysis of femur."], "label": ["Small distal femoral epiphysis"], "label_std": ["Small distal femoral epiphysis"], "definition": ["Reduced size of the Distal epiphysis of femur."], "synonym_std": ["Small end part of outermost thighbone"]}, {"equivalent_iri_kw": ["http://purl.obolibrary.org/obo/UMLS_C0149887", "http://purl.obolibrary.org/obo/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"], "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"], "equivalent_iri_std": ["http://purl.obolibrary.org/obo/UMLS_C0149887", "http://purl.obolibrary.org/obo/MESH_D060048"], "iri": "http://purl.obolibrary.org/obo/OMIM_182260", "_version_": 1564147987617153024, "label_eng": ["Slipped Femoral Capital Epiphyses"], "equivalent_iri_eng": ["http://purl.obolibrary.org/obo/UMLS_C0149887", "http://purl.obolibrary.org/obo/MESH_D060048"], "iri_kw": "http://purl.obolibrary.org/obo/OMIM_182260", "iri_eng": "http://purl.obolibrary.org/obo/OMIM_182260", "category_kw": ["disease"], "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."], "category_eng": ["disease"], "equivalent_curie_kw": ["UMLS:C0149887", "MESH:D060048"], "label_kw": ["Slipped Femoral Capital Epiphyses"], "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"], "score": 19.190416, "id_std": "OMIM:182260", "equivalent_curie_std": ["UMLS:C0149887", "MESH:D060048"], "id": "OMIM:182260", "equivalent_iri": ["http://purl.obolibrary.org/obo/UMLS_C0149887", "http://purl.obolibrary.org/obo/MESH_D060048"], "iri_std": "http://purl.obolibrary.org/obo/OMIM_182260", "id_kw": "OMIM:182260", "leaf": true, "category": ["disease"], "category_std": ["disease"], "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_eng": ["UMLS:C0149887", "MESH:D060048"], "label": ["Slipped Femoral Capital Epiphyses"], "label_std": ["Slipped Femoral Capital Epiphyses"], "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_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"], "equivalent_curie": ["UMLS:C0149887", "MESH:D060048"]}, {"equivalent_iri_kw": ["_:bd37bf0df168ec4cc0ddb6bc02ef59ae"], "synonym_eng": ["Dislocated hips", "Hip dislocation", "Dislocation of hip"], "synonym_kw": ["Dislocated hips", "Hip dislocation", "Dislocation of hip"], "equivalent_iri_std": ["_:bd37bf0df168ec4cc0ddb6bc02ef59ae"], "iri": "http://purl.obolibrary.org/obo/HP_0002827", "_version_": 1564148007270612993, "label_eng": ["Hip dislocation"], "equivalent_iri_eng": ["_:bd37bf0df168ec4cc0ddb6bc02ef59ae"], "iri_kw": "http://purl.obolibrary.org/obo/HP_0002827", "iri_eng": "http://purl.obolibrary.org/obo/HP_0002827", "category_kw": ["Phenotype"], "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."], "category_eng": ["Phenotype"], "equivalent_curie_kw": ["_:bd37bf0df168ec4cc0ddb6bc02ef59ae"], "label_kw": ["Hip dislocation"], "synonym": ["Dislocated hips", "Hip dislocation", "Dislocation of hip"], "score": 18.873596, "id_std": "HP:0002827", "equivalent_curie_std": ["_:bd37bf0df168ec4cc0ddb6bc02ef59ae"], "id": "HP:0002827", "equivalent_iri": ["_:bd37bf0df168ec4cc0ddb6bc02ef59ae"], "iri_std": "http://purl.obolibrary.org/obo/HP_0002827", "id_kw": "HP:0002827", "leaf": false, "category": ["Phenotype"], "category_std": ["Phenotype"], "definition_eng": ["Displacement of the femur from its normal location in the hip joint."], "equivalent_curie_eng": ["_:bd37bf0df168ec4cc0ddb6bc02ef59ae"], "label": ["Hip dislocation"], "label_std": ["Hip dislocation"], "definition": ["Displacement of the femur from its normal location in the hip joint."], "synonym_std": ["Dislocated hips", "Hip dislocation", "Dislocation of hip"], "equivalent_curie": ["_:bd37bf0df168ec4cc0ddb6bc02ef59ae"]}, {"synonym_eng": ["Limited hip abduction"], "synonym_kw": ["Limited hip abduction"], "iri": "http://purl.obolibrary.org/obo/HP_0003184", "label_eng": ["Decreased hip abduction"], "iri_kw": "http://purl.obolibrary.org/obo/HP_0003184", "iri_eng": "http://purl.obolibrary.org/obo/HP_0003184", "category_kw": ["Phenotype"], "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_eng": ["Phenotype"], "_version_": 1564148008031879169, "label_kw": ["Decreased hip abduction"], "synonym": ["Limited hip abduction"], "score": 18.873596, "id_std": "HP:0003184", "id": "HP:0003184", "iri_std": "http://purl.obolibrary.org/obo/HP_0003184", "id_kw": "HP:0003184", "leaf": true, "category": ["Phenotype"], "category_std": ["Phenotype"], "definition_eng": ["Reduced ability to move the femur outward to the side."], "label": ["Decreased hip abduction"], "label_std": ["Decreased hip abduction"], "definition": ["Reduced ability to move the femur outward to the side."], "synonym_std": ["Limited hip abduction"]}, {"equivalent_iri_kw": ["_:59e0e4823b2f7c9c45deb6d53d392ac5"], "synonym_eng": ["Irregular proximal femoral metaphyses"], "synonym_kw": ["Irregular proximal femoral metaphyses"], "equivalent_iri_std": ["_:59e0e4823b2f7c9c45deb6d53d392ac5"], "iri": "http://purl.obolibrary.org/obo/HP_0003411", "_version_": 1564148008119959553, "label_eng": ["Proximal femoral metaphyseal irregularity"], "equivalent_iri_eng": ["_:59e0e4823b2f7c9c45deb6d53d392ac5"], "iri_kw": "http://purl.obolibrary.org/obo/HP_0003411", "iri_eng": "http://purl.obolibrary.org/obo/HP_0003411", "category_kw": ["Phenotype"], "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."], "category_eng": ["Phenotype"], "equivalent_curie_kw": ["_:59e0e4823b2f7c9c45deb6d53d392ac5"], "label_kw": ["Proximal femoral metaphyseal irregularity"], "synonym": ["Irregular proximal femoral metaphyses"], "score": 18.873596, "id_std": "HP:0003411", "equivalent_curie_std": ["_:59e0e4823b2f7c9c45deb6d53d392ac5"], "id": "HP:0003411", "equivalent_iri": ["_:59e0e4823b2f7c9c45deb6d53d392ac5"], "iri_std": "http://purl.obolibrary.org/obo/HP_0003411", "id_kw": "HP:0003411", "leaf": true, "category": ["Phenotype"], "category_std": ["Phenotype"], "definition_eng": ["Irregularity of the normally smooth surface of the proximal metaphysis of the femur."], "equivalent_curie_eng": ["_:59e0e4823b2f7c9c45deb6d53d392ac5"], "label": ["Proximal femoral metaphyseal irregularity"], "label_std": ["Proximal femoral metaphyseal irregularity"], "definition": ["Irregularity of the normally smooth surface of the proximal metaphysis of the femur."], "synonym_std": ["Irregular proximal femoral metaphyses"], "equivalent_curie": ["_:59e0e4823b2f7c9c45deb6d53d392ac5"]}, {"iri": "http://purl.obolibrary.org/obo/HP_0005096", "label_eng": ["Distal femoral bowing"], "iri_kw": "http://purl.obolibrary.org/obo/HP_0005096", "iri_eng": "http://purl.obolibrary.org/obo/HP_0005096", "category_kw": ["Phenotype"], "definition_kw": ["A bending or abnormal curvature of the distal portion of the femur."], "definition_std": ["A bending or abnormal curvature of the distal portion of the femur."], "id_eng": "HP:0005096", "leaf": true, "category_eng": ["Phenotype"], "label_kw": ["Distal femoral bowing"], "score": 18.873596, "id_std": "HP:0005096", "id": "HP:0005096", "iri_std": "http://purl.obolibrary.org/obo/HP_0005096", "id_kw": "HP:0005096", "_version_": 1564148009508274177, "category": ["Phenotype"], "category_std": ["Phenotype"], "definition_eng": ["A bending or abnormal curvature of the distal portion of the femur."], "label": ["Distal femoral bowing"], "label_std": ["Distal femoral bowing"], "definition": ["A bending or abnormal curvature of the distal portion of the femur."]}, {"equivalent_iri_kw": ["_:727b15e88a369fb86704e87f3602c19c"], "synonym_eng": ["Abnormal wide portion of innermost thighbone"], "synonym_kw": ["Abnormal wide portion of innermost thighbone"], "equivalent_iri_std": ["_:727b15e88a369fb86704e87f3602c19c"], "iri": "http://purl.obolibrary.org/obo/HP_0006431", "_version_": 1564148010457235456, "label_eng": ["Proximal femoral metaphyseal abnormality"], "equivalent_iri_eng": ["_:727b15e88a369fb86704e87f3602c19c"], "iri_kw": "http://purl.obolibrary.org/obo/HP_0006431", "iri_eng": "http://purl.obolibrary.org/obo/HP_0006431", "category_kw": ["Phenotype"], "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)."], "category_eng": ["Phenotype"], "equivalent_curie_kw": ["_:727b15e88a369fb86704e87f3602c19c"], "label_kw": ["Proximal femoral metaphyseal abnormality"], "synonym": ["Abnormal wide portion of innermost thighbone"], "score": 18.873596, "id_std": "HP:0006431", "equivalent_curie_std": ["_:727b15e88a369fb86704e87f3602c19c"], "id": "HP:0006431", "equivalent_iri": ["_:727b15e88a369fb86704e87f3602c19c"], "iri_std": "http://purl.obolibrary.org/obo/HP_0006431", "id_kw": "HP:0006431", "leaf": false, "category": ["Phenotype"], "category_std": ["Phenotype"], "definition_eng": ["An anomaly of the metaphysis of the proximal femur (close to the hip)."], "equivalent_curie_eng": ["_:727b15e88a369fb86704e87f3602c19c"], "label": ["Proximal femoral metaphyseal abnormality"], "label_std": ["Proximal femoral metaphyseal abnormality"], "definition": ["An anomaly of the metaphysis of the proximal femur (close to the hip)."], "synonym_std": ["Abnormal wide portion of innermost thighbone"], "equivalent_curie": ["_:727b15e88a369fb86704e87f3602c19c"]}, {"equivalent_iri_kw": ["_:c26160a1f6412068282579bc0c035be1"], "synonym_eng": ["Cone-shaped end part of innermost thighbone"], "synonym_kw": ["Cone-shaped end part of innermost thighbone"], "equivalent_iri_std": ["_:c26160a1f6412068282579bc0c035be1"], "iri": "http://purl.obolibrary.org/obo/HP_0008789", "_version_": 1564148012863717378, "label_eng": ["Cone-shaped capital femoral epiphysis"], "equivalent_iri_eng": ["_:c26160a1f6412068282579bc0c035be1"], "iri_kw": "http://purl.obolibrary.org/obo/HP_0008789", "iri_eng": "http://purl.obolibrary.org/obo/HP_0008789", "category_kw": ["Phenotype"], "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."], "category_eng": ["Phenotype"], "equivalent_curie_kw": ["_:c26160a1f6412068282579bc0c035be1"], "label_kw": ["Cone-shaped capital femoral epiphysis"], "synonym": ["Cone-shaped end part of innermost thighbone"], "score": 18.873596, "id_std": "HP:0008789", "equivalent_curie_std": ["_:c26160a1f6412068282579bc0c035be1"], "id": "HP:0008789", "equivalent_iri": ["_:c26160a1f6412068282579bc0c035be1"], "iri_std": "http://purl.obolibrary.org/obo/HP_0008789", "id_kw": "HP:0008789", "leaf": true, "category": ["Phenotype"], "category_std": ["Phenotype"], "definition_eng": ["A cone-shaped deformity of the proximal epiphysis of the femur."], "equivalent_curie_eng": ["_:c26160a1f6412068282579bc0c035be1"], "label": ["Cone-shaped capital femoral epiphysis"], "label_std": ["Cone-shaped capital femoral epiphysis"], "definition": ["A cone-shaped deformity of the proximal epiphysis of the femur."], "synonym_std": ["Cone-shaped end part of innermost thighbone"], "equivalent_curie": ["_:c26160a1f6412068282579bc0c035be1"]}, {"equivalent_iri_kw": ["_:aa23eadeacf3ac82e78930b08e653d50"], "synonym_eng": ["Wide end part of innermost thighbone"], "synonym_kw": ["Wide end part of innermost thighbone"], "equivalent_iri_std": ["_:aa23eadeacf3ac82e78930b08e653d50"], "iri": "http://purl.obolibrary.org/obo/HP_0008784", "_version_": 1564148012864765953, "label_eng": ["Wide capital femoral epiphyses"], "equivalent_iri_eng": ["_:aa23eadeacf3ac82e78930b08e653d50"], "iri_kw": "http://purl.obolibrary.org/obo/HP_0008784", "iri_eng": "http://purl.obolibrary.org/obo/HP_0008784", "category_kw": ["Phenotype"], "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."], "category_eng": ["Phenotype"], "equivalent_curie_kw": ["_:aa23eadeacf3ac82e78930b08e653d50"], "label_kw": ["Wide capital femoral epiphyses"], "synonym": ["Wide end part of innermost thighbone"], "score": 18.873596, "id_std": "HP:0008784", "equivalent_curie_std": ["_:aa23eadeacf3ac82e78930b08e653d50"], "id": "HP:0008784", "equivalent_iri": ["_:aa23eadeacf3ac82e78930b08e653d50"], "iri_std": "http://purl.obolibrary.org/obo/HP_0008784", "id_kw": "HP:0008784", "leaf": true, "category": ["Phenotype"], "category_std": ["Phenotype"], "definition_eng": ["Abnormally wide morphology of the proximal epiphysis of the femur."], "equivalent_curie_eng": ["_:aa23eadeacf3ac82e78930b08e653d50"], "label": ["Wide capital femoral epiphyses"], "label_std": ["Wide capital femoral epiphyses"], "definition": ["Abnormally wide morphology of the proximal epiphysis of the femur."], "synonym_std": ["Wide end part of innermost thighbone"], "equivalent_curie": ["_:aa23eadeacf3ac82e78930b08e653d50"]}, {"equivalent_iri_kw": ["_:99e2098665fa866afc0fdb28d95ec62e"], "synonym_eng": ["Wide metaphysis of innermost thighbone"], "synonym_kw": ["Wide metaphysis of innermost thighbone"], "equivalent_iri_std": ["_:99e2098665fa866afc0fdb28d95ec62e"], "iri": "http://purl.obolibrary.org/obo/HP_0008783", "_version_": 1564148012864765955, "label_eng": ["Wide proximal femoral metaphysis"], "equivalent_iri_eng": ["_:99e2098665fa866afc0fdb28d95ec62e"], "iri_kw": "http://purl.obolibrary.org/obo/HP_0008783", "iri_eng": "http://purl.obolibrary.org/obo/HP_0008783", "category_kw": ["Phenotype"], "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."], "category_eng": ["Phenotype"], "equivalent_curie_kw": ["_:99e2098665fa866afc0fdb28d95ec62e"], "label_kw": ["Wide proximal femoral metaphysis"], "synonym": ["Wide metaphysis of innermost thighbone"], "score": 18.873596, "id_std": "HP:0008783", "equivalent_curie_std": ["_:99e2098665fa866afc0fdb28d95ec62e"], "id": "HP:0008783", "equivalent_iri": ["_:99e2098665fa866afc0fdb28d95ec62e"], "iri_std": "http://purl.obolibrary.org/obo/HP_0008783", "id_kw": "HP:0008783", "leaf": true, "category": ["Phenotype"], "category_std": ["Phenotype"], "definition_eng": ["Increased width of the proximal part of the shaft (metaphysis) of the femur."], "equivalent_curie_eng": ["_:99e2098665fa866afc0fdb28d95ec62e"], "label": ["Wide proximal femoral metaphysis"], "label_std": ["Wide proximal femoral metaphysis"], "definition": ["Increased width of the proximal part of the shaft (metaphysis) of the femur."], "synonym_std": ["Wide metaphysis of innermost thighbone"], "equivalent_curie": ["_:99e2098665fa866afc0fdb28d95ec62e"]}, {"equivalent_iri_kw": ["_:b823128f05779f9ab61558dd0f49cc34"], "_version_": 1564148012865814532, "equivalent_iri_std": ["_:b823128f05779f9ab61558dd0f49cc34"], "iri": "http://purl.obolibrary.org/obo/HP_0008797", "label_eng": ["Early ossification of capital femoral epiphyses"], "equivalent_iri_eng": ["_:b823128f05779f9ab61558dd0f49cc34"], "iri_kw": "http://purl.obolibrary.org/obo/HP_0008797", "iri_eng": "http://purl.obolibrary.org/obo/HP_0008797", "category_kw": ["Phenotype"], "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."], "category_eng": ["Phenotype"], "equivalent_curie_kw": ["_:b823128f05779f9ab61558dd0f49cc34"], "label_kw": ["Early ossification of capital femoral epiphyses"], "score": 18.873596, "id_std": "HP:0008797", "equivalent_curie_std": ["_:b823128f05779f9ab61558dd0f49cc34"], "id": "HP:0008797", "equivalent_iri": ["_:b823128f05779f9ab61558dd0f49cc34"], "iri_std": "http://purl.obolibrary.org/obo/HP_0008797", "id_kw": "HP:0008797", "leaf": true, "category": ["Phenotype"], "category_std": ["Phenotype"], "definition_eng": ["Developmental acceleration of ossification of the proximal epiphysis of the femur."], "equivalent_curie_eng": ["_:b823128f05779f9ab61558dd0f49cc34"], "label": ["Early ossification of capital femoral epiphyses"], "label_std": ["Early ossification of capital femoral epiphyses"], "definition": ["Developmental acceleration of ossification of the proximal epiphysis of the femur."], "equivalent_curie": ["_:b823128f05779f9ab61558dd0f49cc34"]}, {"equivalent_iri_kw": ["_:1e21d8e5ac08f664eee8d4291df98a3a"], "synonym_eng": ["Delayed ossification of the proximal femoral epiphysis", "Delayed ossification proximal femoral epiphyses"], "synonym_kw": ["Delayed ossification of the proximal femoral epiphysis", "Delayed ossification proximal femoral epiphyses"], "equivalent_iri_std": ["_:1e21d8e5ac08f664eee8d4291df98a3a"], "iri": "http://purl.obolibrary.org/obo/HP_0008828", "_version_": 1564148012971720705, "label_eng": ["Delayed proximal femoral epiphyseal ossification"], "equivalent_iri_eng": ["_:1e21d8e5ac08f664eee8d4291df98a3a"], "iri_kw": "http://purl.obolibrary.org/obo/HP_0008828", "iri_eng": "http://purl.obolibrary.org/obo/HP_0008828", "category_kw": ["Phenotype"], "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."], "category_eng": ["Phenotype"], "equivalent_curie_kw": ["_:1e21d8e5ac08f664eee8d4291df98a3a"], "label_kw": ["Delayed proximal femoral epiphyseal ossification"], "synonym": ["Delayed ossification of the proximal femoral epiphysis", "Delayed ossification proximal femoral epiphyses"], "score": 18.873596, "id_std": "HP:0008828", "equivalent_curie_std": ["_:1e21d8e5ac08f664eee8d4291df98a3a"], "id": "HP:0008828", "equivalent_iri": ["_:1e21d8e5ac08f664eee8d4291df98a3a"], "iri_std": "http://purl.obolibrary.org/obo/HP_0008828", "id_kw": "HP:0008828", "leaf": false, "category": ["Phenotype"], "category_std": ["Phenotype"], "definition_eng": ["Developmental delay of ossification of the proximal epiphysis of the femur."], "equivalent_curie_eng": ["_:1e21d8e5ac08f664eee8d4291df98a3a"], "label": ["Delayed proximal femoral epiphyseal ossification"], "label_std": ["Delayed proximal femoral epiphyseal ossification"], "definition": ["Developmental delay of ossification of the proximal epiphysis of the femur."], "synonym_std": ["Delayed ossification of the proximal femoral epiphysis", "Delayed ossification proximal femoral epiphyses"], "equivalent_curie": ["_:1e21d8e5ac08f664eee8d4291df98a3a"]}, {"synonym_eng": ["Abnormality of wide portion of outermost thighbone"], "synonym_kw": ["Abnormality of wide portion of outermost thighbone"], "iri": "http://purl.obolibrary.org/obo/HP_0030299", "label_eng": ["Distal femoral metaphyseal abnormality"], "iri_kw": "http://purl.obolibrary.org/obo/HP_0030299", "iri_eng": "http://purl.obolibrary.org/obo/HP_0030299", "category_kw": ["Phenotype"], "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_eng": ["Phenotype"], "_version_": 1564147988891172868, "label_kw": ["Distal femoral metaphyseal abnormality"], "synonym": ["Abnormality of wide portion of outermost thighbone"], "score": 18.873596, "id_std": "HP:0030299", "id": "HP:0030299", "iri_std": "http://purl.obolibrary.org/obo/HP_0030299", "id_kw": "HP:0030299", "leaf": false, "category": ["Phenotype"], "category_std": ["Phenotype"], "definition_eng": ["An anomaly of the metaphysis of the distal femur (close to the knee)."], "label": ["Distal femoral metaphyseal abnormality"], "label_std": ["Distal femoral metaphyseal abnormality"], "definition": ["An anomaly of the metaphysis of the distal femur (close to the knee)."], "synonym_std": ["Abnormality of wide portion of outermost thighbone"]}, {"equivalent_iri_kw": ["_:4a9283cee6735fe8791e51732c75397c"], "synonym_eng": ["Irregular distal femoral metaphyses"], "synonym_kw": ["Irregular distal femoral metaphyses"], "equivalent_iri_std": ["_:4a9283cee6735fe8791e51732c75397c"], "iri": "http://purl.obolibrary.org/obo/HP_0045079", "_version_": 1564147990154706946, "label_eng": ["Distal femoral metaphyseal irregularity"], "equivalent_iri_eng": ["_:4a9283cee6735fe8791e51732c75397c"], "iri_kw": "http://purl.obolibrary.org/obo/HP_0045079", "iri_eng": "http://purl.obolibrary.org/obo/HP_0045079", "category_kw": ["Phenotype"], "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."], "category_eng": ["Phenotype"], "equivalent_curie_kw": ["_:4a9283cee6735fe8791e51732c75397c"], "label_kw": ["Distal femoral metaphyseal irregularity"], "synonym": ["Irregular distal femoral metaphyses"], "score": 18.873596, "id_std": "HP:0045079", "equivalent_curie_std": ["_:4a9283cee6735fe8791e51732c75397c"], "id": "HP:0045079", "equivalent_iri": ["_:4a9283cee6735fe8791e51732c75397c"], "iri_std": "http://purl.obolibrary.org/obo/HP_0045079", "id_kw": "HP:0045079", "leaf": true, "category": ["Phenotype"], "category_std": ["Phenotype"], "definition_eng": ["Irregularity of the normally smooth surface of the distal metaphysis of the femur."], "equivalent_curie_eng": ["_:4a9283cee6735fe8791e51732c75397c"], "label": ["Distal femoral metaphyseal irregularity"], "label_std": ["Distal femoral metaphyseal irregularity"], "definition": ["Irregularity of the normally smooth surface of the distal metaphysis of the femur."], "synonym_std": ["Irregular distal femoral metaphyses"], "equivalent_curie": ["_:4a9283cee6735fe8791e51732c75397c"]}, {"iri": "http://purl.obolibrary.org/obo/HP_0012106", "label_eng": ["Rhizomelic leg shortening"], "iri_kw": "http://purl.obolibrary.org/obo/HP_0012106", "iri_eng": "http://purl.obolibrary.org/obo/HP_0012106", "category_kw": ["Phenotype"], "definition_kw": ["Disproportionate shortening of the proximal segment of the leg (i.e. the femur)."], "definition_std": ["Disproportionate shortening of the proximal segment of the leg (i.e. the femur)."], "id_eng": "HP:0012106", "leaf": true, "category_eng": ["Phenotype"], "label_kw": ["Rhizomelic leg shortening"], "score": 18.873596, "id_std": "HP:0012106", "id": "HP:0012106", "iri_std": "http://purl.obolibrary.org/obo/HP_0012106", "id_kw": "HP:0012106", "_version_": 1564148002818359297, "category": ["Phenotype"], "category_std": ["Phenotype"], "definition_eng": ["Disproportionate shortening of the proximal segment of the leg (i.e. the femur)."], "label": ["Rhizomelic leg shortening"], "label_std": ["Rhizomelic leg shortening"], "definition": ["Disproportionate shortening of the proximal segment of the leg (i.e. the femur)."]}, {"equivalent_iri_kw": ["_:6d509055a7bbd06dac8c384496e5333c"], "_version_": 1564148003013394434, "equivalent_iri_std": ["_:6d509055a7bbd06dac8c384496e5333c"], "iri": "http://purl.obolibrary.org/obo/HP_0012515", "label_eng": ["Hip flexor weakness"], "equivalent_iri_eng": ["_:6d509055a7bbd06dac8c384496e5333c"], "iri_kw": "http://purl.obolibrary.org/obo/HP_0012515", "iri_eng": "http://purl.obolibrary.org/obo/HP_0012515", "category_kw": ["Phenotype"], "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."], "category_eng": ["Phenotype"], "equivalent_curie_kw": ["_:6d509055a7bbd06dac8c384496e5333c"], "label_kw": ["Hip flexor weakness"], "score": 18.873596, "id_std": "HP:0012515", "equivalent_curie_std": ["_:6d509055a7bbd06dac8c384496e5333c"], "id": "HP:0012515", "equivalent_iri": ["_:6d509055a7bbd06dac8c384496e5333c"], "iri_std": "http://purl.obolibrary.org/obo/HP_0012515", "id_kw": "HP:0012515", "leaf": true, "category": ["Phenotype"], "category_std": ["Phenotype"], "definition_eng": ["Reduced ability to flex the femur, that is, to pull the knee upward."], "equivalent_curie_eng": ["_:6d509055a7bbd06dac8c384496e5333c"], "label": ["Hip flexor weakness"], "label_std": ["Hip flexor weakness"], "definition": ["Reduced ability to flex the femur, that is, to pull the knee upward."], "equivalent_curie": ["_:6d509055a7bbd06dac8c384496e5333c"]}, {"equivalent_iri_kw": ["http://purl.obolibrary.org/obo/UMLS_C1861922", "http://purl.obolibrary.org/obo/UMLS_C1861923", "http://www.orpha.net/ORDO/Orphanet_140", "http://purl.obolibrary.org/obo/DOID_0050463", "http://purl.obolibrary.org/obo/MESH_D055036"], "synonym_eng": ["Sra1, Cmpd1", "Campomelic Dysplasia, Acampomelic", "CAMPOMELIC DYSPLASIA", "Campomelic Dwarfisms", "Campomelic Syndrome", "Dysplasia, Campomelic", "Cmpd1 Sra1s", "Sra1s, Cmpd1", "Campomelic Syndromes", "Acampomelic Campomelic Dysplasias", "Campomelic Dysplasias, Acampomelic", "Campomelic Dysplasias", "Dysplasias, Campomelic", "Syndromes, Campomelic", "Camptomelic Dysplasias", "Dysplasias, Camptomelic", "Cmpd", "Cmpd1/Sra1", "Dysplasias, Acampomelic Campomelic", "Dwarfism, Campomelic", "Acampomelic Campomelic Dysplasia", "Cmpd1 Sra1", "Campomelic Dysplasia With Autosomal Sex Reversal", "Campomelic Dwarfism", "Acampomelic Campomelic Dysplasia With Autosomal Sex Reversal", "Campomelic dwarfism", "Camptomelic Dysplasia", "Dysplasia, Acampomelic Campomelic", "Cmd1", "Dysplasia, Camptomelic", "Syndrome, Campomelic", "Dwarfisms, Campomelic"], "synonym_kw": ["Sra1, Cmpd1", "Campomelic Dysplasia, Acampomelic", "CAMPOMELIC DYSPLASIA", "Campomelic Dwarfisms", "Campomelic Syndrome", "Dysplasia, Campomelic", "Cmpd1 Sra1s", "Sra1s, Cmpd1", "Campomelic Syndromes", "Acampomelic Campomelic Dysplasias", "Campomelic Dysplasias, Acampomelic", "Campomelic Dysplasias", "Dysplasias, Campomelic", "Syndromes, Campomelic", "Camptomelic Dysplasias", "Dysplasias, Camptomelic", "Cmpd", "Cmpd1/Sra1", "Dysplasias, Acampomelic Campomelic", "Dwarfism, Campomelic", "Acampomelic Campomelic Dysplasia", "Cmpd1 Sra1", "Campomelic Dysplasia With Autosomal Sex Reversal", "Campomelic Dwarfism", "Acampomelic Campomelic Dysplasia With Autosomal Sex Reversal", "Campomelic dwarfism", "Camptomelic Dysplasia", "Dysplasia, Acampomelic Campomelic", "Cmd1", "Dysplasia, Camptomelic", "Syndrome, Campomelic", "Dwarfisms, Campomelic"], "equivalent_iri_std": ["http://purl.obolibrary.org/obo/UMLS_C1861922", "http://purl.obolibrary.org/obo/UMLS_C1861923", "http://www.orpha.net/ORDO/Orphanet_140", "http://purl.obolibrary.org/obo/DOID_0050463", "http://purl.obolibrary.org/obo/MESH_D055036"], "iri": "http://purl.obolibrary.org/obo/OMIM_114290", "_version_": 1564147981071941633, "label_eng": ["campomelic dysplasia"], "equivalent_iri_eng": ["http://purl.obolibrary.org/obo/UMLS_C1861922", "http://purl.obolibrary.org/obo/UMLS_C1861923", "http://www.orpha.net/ORDO/Orphanet_140", "http://purl.obolibrary.org/obo/DOID_0050463", "http://purl.obolibrary.org/obo/MESH_D055036"], "iri_kw": "http://purl.obolibrary.org/obo/OMIM_114290", "iri_eng": "http://purl.obolibrary.org/obo/OMIM_114290", "category_kw": ["disease"], "definition_std": ["An osteochondrodysplasia that has_material_basis_in a mutation in chromosome 17 which results_in bowing in the located_in tibia or located_in femur."], "id_eng": "OMIM:114290", "definition_kw": ["An osteochondrodysplasia that has_material_basis_in a mutation in chromosome 17 which results_in bowing in the located_in tibia or located_in femur."], "category_eng": ["disease"], "equivalent_curie_kw": ["UMLS:C1861922", "UMLS:C1861923", "Orphanet:140", "DOID:0050463", "MESH:D055036"], "label_kw": ["campomelic dysplasia"], "synonym": ["Sra1, Cmpd1", "Campomelic Dysplasia, Acampomelic", "CAMPOMELIC DYSPLASIA", "Campomelic Dwarfisms", "Campomelic Syndrome", "Dysplasia, Campomelic", "Cmpd1 Sra1s", "Sra1s, Cmpd1", "Campomelic Syndromes", "Acampomelic Campomelic Dysplasias", "Campomelic Dysplasias, Acampomelic", "Campomelic Dysplasias", "Dysplasias, Campomelic", "Syndromes, Campomelic", "Camptomelic Dysplasias", "Dysplasias, Camptomelic", "Cmpd", "Cmpd1/Sra1", "Dysplasias, Acampomelic Campomelic", "Dwarfism, Campomelic", "Acampomelic Campomelic Dysplasia", "Cmpd1 Sra1", "Campomelic Dysplasia With Autosomal Sex Reversal", "Campomelic Dwarfism", "Acampomelic Campomelic Dysplasia With Autosomal Sex Reversal", "Campomelic dwarfism", "Camptomelic Dysplasia", "Dysplasia, Acampomelic Campomelic", "Cmd1", "Dysplasia, Camptomelic", "Syndrome, Campomelic", "Dwarfisms, Campomelic"], "score": 17.977184, "id_std": "OMIM:114290", "equivalent_curie_std": ["UMLS:C1861922", "UMLS:C1861923", "Orphanet:140", "DOID:0050463", "MESH:D055036"], "id": "OMIM:114290", "equivalent_iri": ["http://purl.obolibrary.org/obo/UMLS_C1861922", "http://purl.obolibrary.org/obo/UMLS_C1861923", "http://www.orpha.net/ORDO/Orphanet_140", "http://purl.obolibrary.org/obo/DOID_0050463", "http://purl.obolibrary.org/obo/MESH_D055036"], "iri_std": "http://purl.obolibrary.org/obo/OMIM_114290", "id_kw": "OMIM:114290", "leaf": false, "category": ["disease"], "category_std": ["disease"], "definition_eng": ["An osteochondrodysplasia that has_material_basis_in a mutation in chromosome 17 which results_in bowing in the located_in tibia or located_in femur."], "equivalent_curie_eng": ["UMLS:C1861922", "UMLS:C1861923", "Orphanet:140", "DOID:0050463", "MESH:D055036"], "label": ["campomelic dysplasia"], "label_std": ["campomelic dysplasia"], "definition": ["An osteochondrodysplasia that has_material_basis_in a mutation in chromosome 17 which results_in bowing in the located_in tibia or located_in femur."], "synonym_std": ["Sra1, Cmpd1", "Campomelic Dysplasia, Acampomelic", "CAMPOMELIC DYSPLASIA", "Campomelic Dwarfisms", "Campomelic Syndrome", "Dysplasia, Campomelic", "Cmpd1 Sra1s", "Sra1s, Cmpd1", "Campomelic Syndromes", "Acampomelic Campomelic Dysplasias", "Campomelic Dysplasias, Acampomelic", "Campomelic Dysplasias", "Dysplasias, Campomelic", "Syndromes, Campomelic", "Camptomelic Dysplasias", "Dysplasias, Camptomelic", "Cmpd", "Cmpd1/Sra1", "Dysplasias, Acampomelic Campomelic", "Dwarfism, Campomelic", "Acampomelic Campomelic Dysplasia", "Cmpd1 Sra1", "Campomelic Dysplasia With Autosomal Sex Reversal", "Campomelic Dwarfism", "Acampomelic Campomelic Dysplasia With Autosomal Sex Reversal", "Campomelic dwarfism", "Camptomelic Dysplasia", "Dysplasia, Acampomelic Campomelic", "Cmd1", "Dysplasia, Camptomelic", "Syndrome, Campomelic", "Dwarfisms, Campomelic"], "equivalent_curie": ["UMLS:C1861922", "UMLS:C1861923", "Orphanet:140", "DOID:0050463", "MESH:D055036"]}, {"equivalent_iri_kw": ["http://purl.obolibrary.org/obo/MP_0004509", "_:f8ff15f199bc6e408019be4cbc260452", "http://purl.obolibrary.org/obo/HP_0040163", "_:1de7428c606f5752446b4418805adb5b"], "synonym_eng": ["Abnormal shape of pelvic girdle bone", "Abnormality of the pelvic girdle"], "synonym_kw": ["Abnormal shape of pelvic girdle bone", "Abnormality of the pelvic girdle"], "equivalent_iri_std": ["http://purl.obolibrary.org/obo/MP_0004509", "_:f8ff15f199bc6e408019be4cbc260452", "http://purl.obolibrary.org/obo/HP_0040163", "_:1de7428c606f5752446b4418805adb5b"], "iri": "http://purl.obolibrary.org/obo/HP_0002644", "_version_": 1564148007238107136, "label_eng": ["Abnormality of pelvic girdle bone morphology"], "equivalent_iri_eng": ["http://purl.obolibrary.org/obo/MP_0004509", "_:f8ff15f199bc6e408019be4cbc260452", "http://purl.obolibrary.org/obo/HP_0040163", "_:1de7428c606f5752446b4418805adb5b"], "iri_kw": "http://purl.obolibrary.org/obo/HP_0002644", "iri_eng": "http://purl.obolibrary.org/obo/HP_0002644", "category_kw": ["Phenotype"], "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."], "category_eng": ["Phenotype"], "equivalent_curie_kw": ["MP:0004509", "_:f8ff15f199bc6e408019be4cbc260452", "HP:0040163", "_:1de7428c606f5752446b4418805adb5b"], "label_kw": ["Abnormality of pelvic girdle bone morphology"], "synonym": ["Abnormal shape of pelvic girdle bone", "Abnormality of the pelvic girdle"], "score": 17.977184, "id_std": "HP:0002644", "equivalent_curie_std": ["MP:0004509", "_:f8ff15f199bc6e408019be4cbc260452", "HP:0040163", "_:1de7428c606f5752446b4418805adb5b"], "id": "HP:0002644", "equivalent_iri": ["http://purl.obolibrary.org/obo/MP_0004509", "_:f8ff15f199bc6e408019be4cbc260452", "http://purl.obolibrary.org/obo/HP_0040163", "_:1de7428c606f5752446b4418805adb5b"], "iri_std": "http://purl.obolibrary.org/obo/HP_0002644", "id_kw": "HP:0002644", "leaf": false, "category": ["Phenotype"], "category_std": ["Phenotype"], "definition_eng": ["An abnormality of the bony pelvic girdle, which is a ring of bones connecting the vertebral column to the femurs."], "equivalent_curie_eng": ["MP:0004509", "_:f8ff15f199bc6e408019be4cbc260452", "HP:0040163", "_:1de7428c606f5752446b4418805adb5b"], "label": ["Abnormality of pelvic girdle bone morphology"], "label_std": ["Abnormality of pelvic girdle bone morphology"], "definition": ["An abnormality of the bony pelvic girdle, which is a ring of bones connecting the vertebral column to the femurs."], "synonym_std": ["Abnormal shape of pelvic girdle bone", "Abnormality of the pelvic girdle"], "equivalent_curie": ["MP:0004509", "_:f8ff15f199bc6e408019be4cbc260452", "HP:0040163", "_:1de7428c606f5752446b4418805adb5b"]}, {"equivalent_iri_kw": ["_:354a13905fe244a3ab69e22f40697193"], "synonym_eng": ["Increased long bone fracture rate"], "synonym_kw": ["Increased long bone fracture rate"], "equivalent_iri_std": ["_:354a13905fe244a3ab69e22f40697193"], "iri": "http://purl.obolibrary.org/obo/HP_0003084", "_version_": 1564148007870398465, "label_eng": ["Fractures of the long bones"], "equivalent_iri_eng": ["_:354a13905fe244a3ab69e22f40697193"], "iri_kw": "http://purl.obolibrary.org/obo/HP_0003084", "iri_eng": "http://purl.obolibrary.org/obo/HP_0003084", "category_kw": ["Phenotype"], "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)."], "category_eng": ["Phenotype"], "equivalent_curie_kw": ["_:354a13905fe244a3ab69e22f40697193"], "label_kw": ["Fractures of the long bones"], "synonym": ["Increased long bone fracture rate"], "score": 17.977184, "id_std": "HP:0003084", "equivalent_curie_std": ["_:354a13905fe244a3ab69e22f40697193"], "id": "HP:0003084", "equivalent_iri": ["_:354a13905fe244a3ab69e22f40697193"], "iri_std": "http://purl.obolibrary.org/obo/HP_0003084", "id_kw": "HP:0003084", "leaf": false, "category": ["Phenotype"], "category_std": ["Phenotype"], "definition_eng": ["An increased tendency to fractures of the long bones (Mainly, the femur, tibia, fibula,humerus, radius, and ulna)."], "equivalent_curie_eng": ["_:354a13905fe244a3ab69e22f40697193"], "label": ["Fractures of the long bones"], "label_std": ["Fractures of the long bones"], "definition": ["An increased tendency to fractures of the long bones (Mainly, the femur, tibia, fibula,humerus, radius, and ulna)."], "synonym_std": ["Increased long bone fracture rate"], "equivalent_curie": ["_:354a13905fe244a3ab69e22f40697193"]}, {"synonym_eng": ["Rhizomelic short stature", "Symmetrical rhizomelic limb shortening", "Rhizomelic shortening", "Short stature, rhizomelic", "Rhizomelic dwarfism", "Rhizomelic limb shortening", "Rhizomelic short limbs"], "synonym_kw": ["Rhizomelic short stature", "Symmetrical rhizomelic limb shortening", "Rhizomelic shortening", "Short stature, rhizomelic", "Rhizomelic dwarfism", "Rhizomelic limb shortening", "Rhizomelic short limbs"], "iri": "http://purl.obolibrary.org/obo/HP_0008905", "label_eng": ["Rhizomelia"], "iri_kw": "http://purl.obolibrary.org/obo/HP_0008905", "iri_eng": "http://purl.obolibrary.org/obo/HP_0008905", "category_kw": ["Phenotype"], "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_eng": ["Phenotype"], "_version_": 1564148008667316227, "label_kw": ["Rhizomelia"], "synonym": ["Rhizomelic short stature", "Symmetrical rhizomelic limb shortening", "Rhizomelic shortening", "Short stature, rhizomelic", "Rhizomelic dwarfism", "Rhizomelic limb shortening", "Rhizomelic short limbs"], "score": 17.977184, "id_std": "HP:0008905", "id": "HP:0008905", "iri_std": "http://purl.obolibrary.org/obo/HP_0008905", "id_kw": "HP:0008905", "leaf": false, "category": ["Phenotype"], "category_std": ["Phenotype"], "definition_eng": ["Disproportionate shortening of the proximal segment of limbs (i.e. the femur and humerus)."], "label": ["Rhizomelia"], "label_std": ["Rhizomelia"], "definition": ["Disproportionate shortening of the proximal segment of limbs (i.e. the femur and humerus)."], "synonym_std": ["Rhizomelic short stature", "Symmetrical rhizomelic limb shortening", "Rhizomelic shortening", "Short stature, rhizomelic", "Rhizomelic dwarfism", "Rhizomelic limb shortening", "Rhizomelic short limbs"]}, {"synonym_eng": ["Bowing of thighbone at birth, straightening with time"], "synonym_kw": ["Bowing of thighbone at birth, straightening with time"], "iri": "http://purl.obolibrary.org/obo/HP_0005005", "label_eng": ["Femoral bowing present at birth, straightening with time"], "iri_kw": "http://purl.obolibrary.org/obo/HP_0005005", "iri_eng": "http://purl.obolibrary.org/obo/HP_0005005", "category_kw": ["Phenotype"], "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_eng": ["Phenotype"], "_version_": 1564148009511419905, "label_kw": ["Femoral bowing present at birth, straightening with time"], "synonym": ["Bowing of thighbone at birth, straightening with time"], "score": 17.977184, "id_std": "HP:0005005", "id": "HP:0005005", "iri_std": "http://purl.obolibrary.org/obo/HP_0005005", "id_kw": "HP:0005005", "leaf": true, "category": ["Phenotype"], "category_std": ["Phenotype"], "definition_eng": ["Congenital onset bending or abnormal curvature of the femur that normalizes with age."], "label": ["Femoral bowing present at birth, straightening with time"], "label_std": ["Femoral bowing present at birth, straightening with time"], "definition": ["Congenital onset bending or abnormal curvature of the femur that normalizes with age."], "synonym_std": ["Bowing of thighbone at birth, straightening with time"]}, {"equivalent_iri_kw": ["_:1a0c65adf3561c6be62983eb1b8d9b58"], "synonym_eng": ["Irregular outermost thighbone end part"], "synonym_kw": ["Irregular outermost thighbone end part"], "equivalent_iri_std": ["_:1a0c65adf3561c6be62983eb1b8d9b58"], "iri": "http://purl.obolibrary.org/obo/HP_0006407", "_version_": 1564148010463526912, "label_eng": ["Irregular distal femoral epiphysis"], "equivalent_iri_eng": ["_:1a0c65adf3561c6be62983eb1b8d9b58"], "iri_kw": "http://purl.obolibrary.org/obo/HP_0006407", "iri_eng": "http://purl.obolibrary.org/obo/HP_0006407", "category_kw": ["Phenotype"], "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."], "category_eng": ["Phenotype"], "equivalent_curie_kw": ["_:1a0c65adf3561c6be62983eb1b8d9b58"], "label_kw": ["Irregular distal femoral epiphysis"], "synonym": ["Irregular outermost thighbone end part"], "score": 17.977184, "id_std": "HP:0006407", "equivalent_curie_std": ["_:1a0c65adf3561c6be62983eb1b8d9b58"], "id": "HP:0006407", "equivalent_iri": ["_:1a0c65adf3561c6be62983eb1b8d9b58"], "iri_std": "http://purl.obolibrary.org/obo/HP_0006407", "id_kw": "HP:0006407", "leaf": true, "category": ["Phenotype"], "category_std": ["Phenotype"], "definition_eng": ["Anomaly of the contour of the Distal epiphysis of femur such that its normally smooth appearance is irregular."], "equivalent_curie_eng": ["_:1a0c65adf3561c6be62983eb1b8d9b58"], "label": ["Irregular distal femoral epiphysis"], "label_std": ["Irregular distal femoral epiphysis"], "definition": ["Anomaly of the contour of the Distal epiphysis of femur such that its normally smooth appearance is irregular."], "synonym_std": ["Irregular outermost thighbone end part"], "equivalent_curie": ["_:1a0c65adf3561c6be62983eb1b8d9b58"]}], "highlighting": {"HP:0006406": {"definition_std": ["An abnormal conformation of the <em class=\"hilite\">femur</em> that becomes gradually enlarged towards the proximal end"], "label_std": ["Club-shaped proximal <em class=\"hilite\">femur</em>"], "label_eng": ["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"]}, "UBERON:0009980PHENOTYPE": {"definition_std": ["Any phenotype involving condyle of <em class=\"hilite\">femur</em>."], "label_std": ["condyle of <em class=\"hilite\">femur</em> phenotype"], "label_eng": ["condyle of <em class=\"hilite\">femur</em> phenotype"], "definition_eng": ["Any phenotype involving condyle of <em class=\"hilite\">femur</em>."]}, "HP:0005090": {"definition_std": ["A lateral bending or abnormal curvature of the <em class=\"hilite\">femur</em>."], "definition_eng": ["A lateral bending or abnormal curvature of the <em class=\"hilite\">femur</em>."]}, "HP:0010574": {"definition_std": ["Any abnormality of the proximal epiphysis of the <em class=\"hilite\">femur</em>."], "definition_eng": ["Any abnormality of the proximal epiphysis of the <em class=\"hilite\">femur</em>."]}, "HP:0008820": {"definition_std": ["Lack of ossification of the proximal epiphysis of the <em class=\"hilite\">femur</em>."], "definition_eng": ["Lack of ossification of the proximal epiphysis of the <em class=\"hilite\">femur</em>."]}, "HP:0005096": {"definition_std": ["A bending or abnormal curvature of the distal portion of the <em class=\"hilite\">femur</em>."], "definition_eng": ["A bending or abnormal curvature of the distal portion of the <em class=\"hilite\">femur</em>."]}, "MP:0013637": {"definition_std": ["increase in material stiffness (N/mm) during elastic deformation in the <em class=\"hilite\">femur</em>"], "label_std": ["increased <em class=\"hilite\">femur</em> stiffness"], "label_eng": ["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>"]}, "MP:0013621": {"synonym_eng": ["decreased <em class=\"hilite\">femur</em> medullary cavity diameter", "reduced inner diameter of <em class=\"hilite\">femur</em>", "decreased <em class=\"hilite\">femur</em> bone marrow cavity diameter", "decreased inner diameter of <em class=\"hilite\">femur</em>", "decreased endosteal diameter of <em class=\"hilite\">femur</em>", "reduced endosteal diameter of <em class=\"hilite\">femur</em>"], "definition_eng": ["reduced 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>"], "definition_std": ["reduced 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_std": ["decreased internal diameter of <em class=\"hilite\">femur</em>"], "synonym_std": ["decreased <em class=\"hilite\">femur</em> medullary cavity diameter", "reduced inner diameter of <em class=\"hilite\">femur</em>", "decreased <em class=\"hilite\">femur</em> bone marrow cavity diameter", "decreased inner diameter of <em class=\"hilite\">femur</em>", "decreased endosteal diameter of <em class=\"hilite\">femur</em>", "reduced endosteal diameter of <em class=\"hilite\">femur</em>"], "label_eng": ["decreased internal diameter of <em class=\"hilite\">femur</em>"]}, "HP:0006398": {"definition_std": ["An abnormal flattening of the distal epiphysis of <em class=\"hilite\">femur</em>."], "definition_eng": ["An abnormal flattening of the distal epiphysis of <em class=\"hilite\">femur</em>."]}, "HP:0045079": {"definition_std": ["Irregularity of the normally smooth surface of the distal metaphysis of the <em class=\"hilite\">femur</em>."], "definition_eng": ["Irregularity of the normally smooth surface of the distal metaphysis of the <em class=\"hilite\">femur</em>."]}, "OMIM:114290": {"definition_std": [" bowing in the located_in tibia or located_in <em class=\"hilite\">femur</em>."], "definition_eng": ["_in bowing in the located_in tibia or located_in <em class=\"hilite\">femur</em>."]}, "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"], "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"], "label_eng": ["<em class=\"hilite\">Femur</em> Head Necrosis"]}, "HP:0012515": {"definition_std": ["Reduced ability to flex the <em class=\"hilite\">femur</em>, that is, to pull the knee upward."], "definition_eng": ["Reduced ability to flex the <em class=\"hilite\">femur</em>, that is, to pull the knee upward."]}, "HP:0012744": {"definition_std": ["Failure of the <em class=\"hilite\">femur</em> to develop."], "synonym_eng": ["Absent <em class=\"hilite\">femur</em>"], "synonym_std": ["Absent <em class=\"hilite\">femur</em>"], "definition_eng": ["Failure of the <em class=\"hilite\">femur</em> to develop."]}, "HP:0008789": {"definition_std": ["A cone-shaped deformity of the proximal epiphysis of the <em class=\"hilite\">femur</em>."], "definition_eng": ["A cone-shaped deformity of the proximal epiphysis of the <em class=\"hilite\">femur</em>."]}, "HP:0003097": {"definition_std": ["An abnormal shortening of the <em class=\"hilite\">femur</em>."], "label_std": ["Short <em class=\"hilite\">femur</em>"], "synonym_eng": ["Short <em class=\"hilite\">femurs</em>"], "label_eng": ["Short <em class=\"hilite\">femur</em>"], "definition_eng": ["An abnormal shortening of the <em class=\"hilite\">femur</em>."]}, "UBERON:0006862PHENOTYPE": {"definition_std": ["Any phenotype involving diaphysis of <em class=\"hilite\">femur</em>."], "label_std": ["diaphysis of <em class=\"hilite\">femur</em> phenotype"], "label_eng": ["diaphysis of <em class=\"hilite\">femur</em> phenotype"], "definition_eng": ["Any phenotype involving diaphysis of <em class=\"hilite\">femur</em>."]}, "MP:0013632": {"definition_std": ["increase in the maximal load (N) sustained by the <em class=\"hilite\">femur</em>"], "label_std": ["increased <em class=\"hilite\">femur</em> maximal load"], "label_eng": ["increased <em class=\"hilite\">femur</em> maximal load"], "definition_eng": ["increase in the maximal load (N) sustained by the <em class=\"hilite\">femur</em>"]}, "UBERON:0015052PHENOTYPE": {"definition_std": ["Any phenotype involving <em class=\"hilite\">femur</em> endochondral element."], "label_std": ["<em class=\"hilite\">femur</em> endochondral element phenotype"], "label_eng": ["<em class=\"hilite\">femur</em> endochondral element phenotype"], "definition_eng": ["Any phenotype involving <em class=\"hilite\">femur</em> endochondral element."]}, "OMIM:228200": {"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"], "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>"], "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>"], "label_std": ["<em class=\"hilite\">Femur</em>-fibula-ulna complex"], "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"], "label_eng": ["<em class=\"hilite\">Femur</em>-fibula-ulna complex"]}, "UBERON:0006767PHENOTYPE": {"definition_std": ["Any phenotype involving head of <em class=\"hilite\">femur</em>."], "label_std": ["head of <em class=\"hilite\">femur</em> phenotype"], "label_eng": ["head of <em class=\"hilite\">femur</em> phenotype"], "definition_eng": ["Any phenotype involving head of <em class=\"hilite\">femur</em>."]}, "HP:0003084": {"definition_std": ["An increased tendency to fractures of the long bones (Mainly, the <em class=\"hilite\">femur</em>, tibia, fibula,humerus"], "definition_eng": ["An increased tendency to fractures of the long bones (Mainly, the <em class=\"hilite\">femur</em>, tibia, fibula,humerus"]}, "MP:0013638": {"definition_std": ["decrease in material stiffness (N/mm) during elastic deformation in the <em class=\"hilite\">femur</em>"], "label_std": ["decreased <em class=\"hilite\">femur</em> stiffness"], "label_eng": ["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>"]}, "HP:0012283": {"definition_std": ["Reduced size of the Distal epiphysis of <em class=\"hilite\">femur</em>."], "definition_eng": ["Reduced size of the Distal epiphysis of <em class=\"hilite\">femur</em>."]}, "HP:0030299": {"definition_std": ["An anomaly of the metaphysis of the distal <em class=\"hilite\">femur</em> (close to the knee)."], "definition_eng": ["An anomaly of the metaphysis of the distal <em class=\"hilite\">femur</em> (close to the knee)."]}, "HP:0008784": {"definition_std": ["Abnormally wide morphology of the proximal epiphysis of the <em class=\"hilite\">femur</em>."], "definition_eng": ["Abnormally wide morphology of the proximal epiphysis of the <em class=\"hilite\">femur</em>."]}, "MP:0013625": {"definition_std": ["increase in load (N) on the <em class=\"hilite\">femur</em> at which elastic deformation ends"], "label_std": ["increased <em class=\"hilite\">femur</em> yield load"], "label_eng": ["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"]}, "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"], "synonym_std": ["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>"]}, "HP:0006499": {"definition_std": ["An anomaly of a growth plate of a <em class=\"hilite\">femur</em>."], "definition_eng": ["An anomaly of a growth plate of a <em class=\"hilite\">femur</em>."]}, "HP:0002823": {"definition_std": ["Abnormality of the <em class=\"hilite\">femur</em>."], "label_std": ["Abnormality of the <em class=\"hilite\">femur</em>"], "label_eng": ["Abnormality of the <em class=\"hilite\">femur</em>"], "definition_eng": ["Abnormality of the <em class=\"hilite\">femur</em>."]}, "FBbt:00004689PHENOTYPE": {"label_std": ["Drosophila mesothoracic <em class=\"hilite\">femur</em> phenotype"], "label_eng": ["Drosophila mesothoracic <em class=\"hilite\">femur</em> phenotype"]}, "HP:0006375": {"definition_std": ["The <em class=\"hilite\">femur</em> is shortened and displays flaring (widening) of the metaphyses."], "label_std": ["Dumbbell-shaped <em class=\"hilite\">femur</em>"], "label_eng": ["Dumbbell-shaped <em class=\"hilite\">femur</em>"], "definition_eng": ["The <em class=\"hilite\">femur</em> is shortened and displays flaring (widening) of the metaphyses."]}, "UBERON:0006864PHENOTYPE": {"definition_std": ["Any phenotype involving distal metaphysis of <em class=\"hilite\">femur</em>."], "label_std": ["distal metaphysis of <em class=\"hilite\">femur</em> phenotype"], "label_eng": ["distal metaphysis of <em class=\"hilite\">femur</em> phenotype"], "definition_eng": ["Any phenotype involving distal metaphysis of <em class=\"hilite\">femur</em>."]}, "HP:0006438": {"definition_std": ["An abnormal enlargement of the distal epiphysis of the <em class=\"hilite\">femur</em>."], "definition_eng": ["An abnormal enlargement of the distal epiphysis of the <em class=\"hilite\">femur</em>."]}, "HP:0006431": {"definition_std": ["An anomaly of the metaphysis of the proximal <em class=\"hilite\">femur</em> (close to the hip)."], "definition_eng": ["An anomaly of the metaphysis of the proximal <em class=\"hilite\">femur</em> (close to the hip)."]}, "HP:0006384": {"definition_std": ["An abnormal conformation of the <em class=\"hilite\">femur</em> that becomes gradually enlarged towards the distal end. This"], "label_std": ["Club-shaped distal <em class=\"hilite\">femur</em>"], "label_eng": ["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"]}, "MP:0013626": {"definition_std": ["decrease in load (N) on the <em class=\"hilite\">femur</em> at which elastic deformation ends"], "label_std": ["decreased <em class=\"hilite\">femur</em> yield load"], "label_eng": ["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"]}, "UBERON:0007119PHENOTYPE": {"definition_std": ["Any phenotype involving neck of <em class=\"hilite\">femur</em>."], "label_std": ["neck of <em class=\"hilite\">femur</em> phenotype"], "label_eng": ["neck of <em class=\"hilite\">femur</em> phenotype"], "definition_eng": ["Any phenotype involving neck of <em class=\"hilite\">femur</em>."]}, "MP:0004348": {"label_std": ["long <em class=\"hilite\">femur</em>"], "synonym_eng": ["increased <em class=\"hilite\">femur</em> length"], "synonym_std": ["increased <em class=\"hilite\">femur</em> length"], "label_eng": ["long <em class=\"hilite\">femur</em>"]}, "HP:0002827": {"definition_std": ["Displacement of the <em class=\"hilite\">femur</em> from its normal location in the hip joint."], "definition_eng": ["Displacement of the <em class=\"hilite\">femur</em> from its normal location in the hip joint."]}, "FBbt:00004667PHENOTYPE": {"label_std": ["Drosophila prothoracic <em class=\"hilite\">femur</em> phenotype"], "label_eng": ["Drosophila prothoracic <em class=\"hilite\">femur</em> phenotype"]}, "HP:0003090": {"definition_std": ["Underdevelopment of the proximal epiphysis of the <em class=\"hilite\">femur</em>."], "definition_eng": ["Underdevelopment of the proximal epiphysis of the <em class=\"hilite\">femur</em>."]}, "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:0013634": {"label_std": ["increased <em class=\"hilite\">femur</em> fracture load"], "label_eng": ["increased <em class=\"hilite\">femur</em> fracture load"]}, "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"], "synonym_std": ["<em class=\"hilite\">Femur</em>, Unilateral Bifid, With Monodactylous Ectrodactyly"], "label_eng": ["<em class=\"hilite\">Femur</em> bifid with monodactylous ectrodactyly"]}, "UBERON:0004406PHENOTYPE": {"definition_std": ["Any phenotype involving distal epiphysis of <em class=\"hilite\">femur</em>."], "label_std": ["distal epiphysis of <em class=\"hilite\">femur</em> phenotype"], "label_eng": ["distal epiphysis of <em class=\"hilite\">femur</em> phenotype"], "definition_eng": ["Any phenotype involving distal epiphysis of <em class=\"hilite\">femur</em>."]}, "MP:0013624": {"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"], "definition_eng": ["reduced width of the superficial layer of compact bone at the midpoint of the <em class=\"hilite\">femur</em>"], "definition_std": ["reduced width of the superficial layer of compact bone at the midpoint of the <em class=\"hilite\">femur</em>"], "label_std": ["decreased <em class=\"hilite\">femur</em> compact 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"], "label_eng": ["decreased <em class=\"hilite\">femur</em> compact bone thickness"]}, "HP:0003370": {"definition_std": ["An abnormal flattening of the proximal epiphysis of the <em class=\"hilite\">femur</em>."], "definition_eng": ["An abnormal flattening of the proximal epiphysis of the <em class=\"hilite\">femur</em>."]}, "HP:0030289": {"definition_std": ["An abnormal flattening of an epiphysis of <em class=\"hilite\">femur</em>."], "definition_eng": ["An abnormal flattening of an epiphysis of <em class=\"hilite\">femur</em>."]}, "HP:0011428": {"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"], "label_std": ["Short fetal <em class=\"hilite\">femur</em> length"], "label_eng": ["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"]}, "MP:0008152": {"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>"], "definition_eng": ["reduced width of the cross-sectional distance that extends from one lateral edge of the <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>"], "label_std": ["decreased 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>"], "label_eng": ["decreased diameter of <em class=\"hilite\">femur</em>"]}, "UBERON:0006234PHENOTYPE": {"definition_std": ["Any phenotype involving <em class=\"hilite\">femur</em> pre-cartilage condensation."], "label_std": ["<em class=\"hilite\">femur</em> pre-cartilage condensation phenotype"], "label_eng": ["<em class=\"hilite\">femur</em> pre-cartilage condensation phenotype"], "definition_eng": ["Any phenotype involving <em class=\"hilite\">femur</em> pre-cartilage condensation."]}, "HP:0008828": {"definition_std": ["Developmental delay of ossification of the proximal epiphysis of the <em class=\"hilite\">femur</em>."], "definition_eng": ["Developmental delay of ossification of the proximal epiphysis of the <em class=\"hilite\">femur</em>."]}, "HP:0002980": {"definition_std": ["Bowing (abnormal curvature) of the <em class=\"hilite\">femur</em>."], "synonym_eng": ["Bowed <em class=\"hilite\">femurs</em>", "Bowed <em class=\"hilite\">femura</em>", "Bowed <em class=\"hilite\">femur</em>"], "synonym_std": ["Bowed <em class=\"hilite\">femur</em>"], "definition_eng": ["Bowing (abnormal curvature) of the <em class=\"hilite\">femur</em>."]}, "MP:0013620": {"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>"], "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>"], "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>"], "label_std": ["increased internal 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>"], "label_eng": ["increased internal diameter of <em class=\"hilite\">femur</em>"]}, "HP:0008905": {"definition_std": ["Disproportionate shortening of the proximal segment of limbs (i.e. the <em class=\"hilite\">femur</em> and humerus)."], "definition_eng": ["Disproportionate shortening of the proximal segment of limbs (i.e. the <em class=\"hilite\">femur</em> and humerus)."]}, "HP:0006407": {"definition_std": ["Anomaly of the contour of the Distal epiphysis of <em class=\"hilite\">femur</em> such that its normally smooth appearance is"], "definition_eng": ["Anomaly of the contour of the Distal epiphysis of <em class=\"hilite\">femur</em> such that its normally smooth appearance"]}, "NCBIGene:44540": {"synonym_eng": ["kinked-<em class=\"hilite\">femur</em>"], "synonym_std": ["kinked-<em class=\"hilite\">femur</em>"]}, "MP:0013622": {"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"], "definition_eng": ["reduced or increased width of the superficial layer of compact bone at the midpoint of the <em class=\"hilite\">femur</em>"], "definition_std": ["reduced or increased width of the superficial layer of compact bone at the midpoint of the <em class=\"hilite\">femur</em>"], "label_std": ["abnormal <em class=\"hilite\">femur</em> compact bone 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"], "label_eng": ["abnormal <em class=\"hilite\">femur</em> compact bone thickness"]}, "HP:0003411": {"definition_std": ["Irregularity of the normally smooth surface of the proximal metaphysis of the <em class=\"hilite\">femur</em>."], "definition_eng": ["Irregularity of the normally smooth surface of the proximal metaphysis of the <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:0005613": {"definition_std": ["Absence or underdevelopment of the <em class=\"hilite\">femur</em>."], "label_std": ["Aplasia/hypoplasia of the <em class=\"hilite\">femur</em>"], "label_eng": ["Aplasia/hypoplasia of the <em class=\"hilite\">femur</em>"], "definition_eng": ["Absence or underdevelopment 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>"]}, "HP:0003371": {"definition_std": ["An abnormal enlargement of the proximal epiphysis of the <em class=\"hilite\">femur</em>."], "definition_eng": ["An abnormal enlargement of the proximal epiphysis of the <em class=\"hilite\">femur</em>."]}, "HP:0008797": {"definition_std": ["Developmental acceleration of ossification of the proximal epiphysis of the <em class=\"hilite\">femur</em>."], "definition_eng": ["Developmental acceleration of ossification of the proximal epiphysis 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"]}, "HP:0003184": {"definition_std": ["Reduced ability to move the <em class=\"hilite\">femur</em> outward to the side."], "definition_eng": ["Reduced ability to move the <em class=\"hilite\">femur</em> outward to the side."]}, "HP:0006387": {"definition_std": ["Increased width of the distal part of the shaft (metaphysis) of the <em class=\"hilite\">femur</em>."], "synonym_eng": ["Wide distal metaphysis of <em class=\"hilite\">femur</em>"], "synonym_std": ["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>."]}, "HP:0005003": {"definition_std": ["Absence or underdevelopment of the proximal epiphysis of the <em class=\"hilite\">femur</em>."], "definition_eng": ["Absence or underdevelopment of the proximal epiphysis of the <em class=\"hilite\">femur</em>."]}, "HP:0004975": {"label_eng": ["Erlenmeyer flask deformity of the <em class=\"hilite\">femurs</em>"], "definition_std": ["Flaring of distal <em class=\"hilite\">femur</em>."], "synonym_eng": ["Erlenmeyer flask deformity of distal <em class=\"hilite\">femur</em>"], "synonym_std": ["Erlenmeyer flask deformity of distal <em class=\"hilite\">femur</em>"], "definition_eng": ["Flaring of distal <em class=\"hilite\">femur</em>."]}, "UBERON:0000981PHENOTYPE": {"definition_std": ["Any phenotype involving <em class=\"hilite\">femur</em>."], "label_std": ["<em class=\"hilite\">femur</em> phenotype"], "label_eng": ["<em class=\"hilite\">femur</em> phenotype"], "definition_eng": ["Any phenotype involving <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>"]}, "MP:0000559": {"label_std": ["abnormal <em class=\"hilite\">femur</em> morphology"], "synonym_eng": ["<em class=\"hilite\">femur</em> dysplasia"], "synonym_std": ["<em class=\"hilite\">femur</em> dysplasia"], "label_eng": ["abnormal <em class=\"hilite\">femur</em> morphology"]}, "FBbt:00004644PHENOTYPE": {"label_std": ["Drosophila <em class=\"hilite\">femur</em> phenotype"], "label_eng": ["Drosophila <em class=\"hilite\">femur</em> phenotype"]}, "HP:0030295": {"label_std": ["Metaphyseal chondromatosis of <em class=\"hilite\">femur</em>"], "label_eng": ["Metaphyseal chondromatosis of <em class=\"hilite\">femur</em>"]}, "MP:0020011": {"label_std": ["increased bone mineral density of <em class=\"hilite\">femur</em>"], "synonym_eng": ["increased BMD of <em class=\"hilite\">femur</em>"], "synonym_std": ["increased BMD of <em class=\"hilite\">femur</em>"], "label_eng": ["increased bone mineral density of <em class=\"hilite\">femur</em>"]}, "DOID:5546": {"definition_std": ["A bone cancer that is located_in the <em class=\"hilite\">femur</em>."], "synonym_eng": ["neoplasm of <em class=\"hilite\">femur</em>"], "synonym_std": ["neoplasm of <em class=\"hilite\">femur</em>"], "definition_eng": ["A bone cancer that is located_in the <em class=\"hilite\">femur</em>."]}, "HP:0010443": {"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"], "label_std": ["Bifid <em class=\"hilite\">femur</em>"], "label_eng": ["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"]}, "MP:0008158": {"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>"], "definition_eng": ["increased width of the cross-sectional distance that extends from one lateral edge of the <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>"], "label_std": ["increased 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>"], "label_eng": ["increased diameter of <em class=\"hilite\">femur</em>"]}, "HP:0010590": {"definition_std": ["Any abnormality of the distal epiphysis of the <em class=\"hilite\">femur</em>."], "definition_eng": ["Any abnormality of the distal epiphysis of the <em class=\"hilite\">femur</em>."]}, "HP:0012106": {"definition_std": ["Disproportionate shortening of the proximal segment of the leg (i.e. the <em class=\"hilite\">femur</em>)."], "definition_eng": ["Disproportionate shortening of the proximal segment of the leg (i.e. the <em class=\"hilite\">femur</em>)."]}, "HP:0008783": {"definition_std": ["Increased width of the proximal part of the shaft (metaphysis) of the <em class=\"hilite\">femur</em>."], "definition_eng": ["Increased width of the proximal part of the shaft (metaphysis) of the <em class=\"hilite\">femur</em>."]}, "UBERON:0004412PHENOTYPE": {"definition_std": ["Any phenotype involving proximal epiphysis of <em class=\"hilite\">femur</em>."], "label_std": ["proximal epiphysis of <em class=\"hilite\">femur</em> phenotype"], "label_eng": ["proximal epiphysis of <em class=\"hilite\">femur</em> phenotype"], "definition_eng": ["Any phenotype involving proximal epiphysis of <em class=\"hilite\">femur</em>."]}, "MP:0013623": {"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"], "definition_eng": ["increased width of the superficial layer of compact bone at the midpoint of the <em class=\"hilite\">femur</em>"], "definition_std": ["increased width of the superficial layer of compact bone at the midpoint of the <em class=\"hilite\">femur</em>"], "label_std": ["increased <em class=\"hilite\">femur</em> compact bone 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"], "label_eng": ["increased <em class=\"hilite\">femur</em> compact bone thickness"]}, "FBbt:00004711PHENOTYPE": {"label_std": ["Drosophila metathoracic <em class=\"hilite\">femur</em> phenotype"], "label_eng": ["Drosophila metathoracic <em class=\"hilite\">femur</em> phenotype"]}, "UBERON:0006863PHENOTYPE": {"definition_std": ["Any phenotype involving proximal metaphysis of <em class=\"hilite\">femur</em>."], "label_std": ["proximal metaphysis of <em class=\"hilite\">femur</em> phenotype"], "label_eng": ["proximal metaphysis of <em class=\"hilite\">femur</em> phenotype"], "definition_eng": ["Any phenotype involving proximal 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"], "synonym_std": ["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>"]}, "MP:0013635": {"label_std": ["decreased <em class=\"hilite\">femur</em> fracture load"], "label_eng": ["decreased <em class=\"hilite\">femur</em> fracture load"]}, "Orphanet:1987": {"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>."], "synonym_eng": ["Congenital short <em class=\"hilite\">femur</em>"], "synonym_std": ["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>."]}, "UBERON:0009984PHENOTYPE": {"definition_std": ["Any phenotype involving medial condyle of <em class=\"hilite\">femur</em>."], "label_std": ["medial condyle of <em class=\"hilite\">femur</em> phenotype"], "label_eng": ["medial condyle of <em class=\"hilite\">femur</em> phenotype"], "definition_eng": ["Any phenotype involving medial condyle of <em class=\"hilite\">femur</em>."]}, "HP:0005005": {"definition_std": ["Congenital onset bending or abnormal curvature of the <em class=\"hilite\">femur</em> that normalizes with age."], "definition_eng": ["Congenital onset bending or abnormal curvature of the <em class=\"hilite\">femur</em> that normalizes with age."]}, "MP:0013646": {"definition_std": [" fracture) by the <em class=\"hilite\">femur</em>"], "label_std": ["decreased energy dissipated prior to <em class=\"hilite\">femur</em> fracture"], "label_eng": ["decreased energy dissipated prior to <em class=\"hilite\">femur</em> fracture"], "definition_eng": [" fracture) by the <em class=\"hilite\">femur</em>"]}, "UBERON:0010129PHENOTYPE": {"definition_std": ["Any phenotype involving <em class=\"hilite\">femur</em> cartilage element."], "label_std": ["<em class=\"hilite\">femur</em> cartilage element phenotype"], "label_eng": ["<em class=\"hilite\">femur</em> cartilage element phenotype"], "definition_eng": ["Any phenotype involving <em class=\"hilite\">femur</em> cartilage element."]}, "MP:0013633": {"definition_std": ["decrease in the maximal load (N) sustained by the <em class=\"hilite\">femur</em>"], "label_std": ["decreased <em class=\"hilite\">femur</em> maximal load"], "label_eng": ["decreased <em class=\"hilite\">femur</em> maximal load"], "definition_eng": ["decrease in the maximal load (N) sustained by the <em class=\"hilite\">femur</em>"]}, "OMIM:182260": {"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"], "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"]}, "UBERON:0006865PHENOTYPE": {"definition_std": ["Any phenotype involving metaphysis of <em class=\"hilite\">femur</em>."], "label_std": ["metaphysis of <em class=\"hilite\">femur</em> phenotype"], "label_eng": ["metaphysis of <em class=\"hilite\">femur</em> phenotype"], "definition_eng": ["Any phenotype involving metaphysis of <em class=\"hilite\">femur</em>."]}, "HP:0002644": {"definition_eng": [" to the <em class=\"hilite\">femurs</em>."]}, "UBERON:0004384PHENOTYPE": {"definition_std": ["Any phenotype involving epiphysis of <em class=\"hilite\">femur</em>."], "label_std": ["epiphysis of <em class=\"hilite\">femur</em> phenotype"], "label_eng": ["epiphysis of <em class=\"hilite\">femur</em> phenotype"], "definition_eng": ["Any phenotype involving epiphysis of <em class=\"hilite\">femur</em>."]}, "MP:0013645": {"definition_std": [" fracture) by the <em class=\"hilite\">femur</em>"], "label_std": ["increased energy dissipated prior to <em class=\"hilite\">femur</em> fracture"], "label_eng": ["increased energy dissipated prior to <em class=\"hilite\">femur</em> fracture"], "definition_eng": [" fracture) by the <em class=\"hilite\">femur</em>"]}, "OMIM:228250": {"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"]}}, "pagination": {}}
--- /dev/null Thu Jan 01 00:00:00 1970 +0000 +++ b/test-data/find-associations-for-subject.json Wed Jun 21 18:42:56 2017 -0400 @@ -0,0 +1,1 @@ +{"associations": [{"subject_extension": null, "slim": null, "publications": null, "object": {"xrefs": null, "taxon": {"label": null, "id": null}, "types": null, "categories": null, "replaced_by": null, "synonyms": null, "label": "Duane retraction syndrome", "deprecated": null, "id": "DOID:12557", "description": null, "consider": null}, "id": "5a292625-da8a-45de-8f87-1c7dd3b63d74", "type": null, "evidence_graph": {"nodes": [{"lbl": null, "id": "MONARCH:97c1a32dc0e33b0332f5068331349af854ac02d9"}, {"lbl": "some variant of COL25A1 that is a disease-causing germline mutation(s) in Duane retraction syndrome", "id": ":.well-known/genid/422551-233VL"}, {"lbl": "imported manually asserted information used in automatic assertion", "id": "ECO:0000322"}, {"lbl": "COL25A1", "id": "NCBIGene:84570"}, {"lbl": "Duane retraction syndrome", "id": "DOID:12557"}], "edges": [{"sub": "MONARCH:97c1a32dc0e33b0332f5068331349af854ac02d9", "pred": "OBAN:association_has_object", "obj": "DOID:12557"}, {"sub": ":.well-known/genid/422551-233VL", "pred": "GENO:0000408", "obj": "NCBIGene:84570"}, {"sub": "MONARCH:97c1a32dc0e33b0332f5068331349af854ac02d9", "pred": "RO:0002558", "obj": "ECO:0000322"}, {"sub": ":.well-known/genid/422551-233VL", "pred": "RO:0002200", "obj": "DOID:12557"}, {"sub": "MONARCH:97c1a32dc0e33b0332f5068331349af854ac02d9", "pred": "OBAN:association_has_subject", "obj": ":.well-known/genid/422551-233VL"}]}, "subject": {"xrefs": null, "taxon": {"label": "Homo sapiens", "id": "NCBITaxon:9606"}, "types": null, "categories": null, "replaced_by": null, "synonyms": null, "label": "COL25A1", "deprecated": null, "id": "NCBIGene:84570", "description": null, "consider": null}, "provided_by": ["http://data.monarchinitiative.org/ttl/orphanet.ttl"], "relation": {"types": null, "categories": null, "replaced_by": null, "synonyms": null, "label": null, "deprecated": null, "id": null, "description": null, "consider": null}, "qualifiers": null, "object_extension": null, "evidence_types": null}, {"subject_extension": null, "slim": null, "publications": null, "object": {"xrefs": null, "taxon": {"label": null, "id": null}, "types": null, "categories": null, "replaced_by": null, "synonyms": null, "label": "Fibrosis of Extraocular Muscles, Congenital, 5", "deprecated": null, "id": "OMIM:616219", "description": null, "consider": null}, "id": "b131fb75-c18e-4b3c-843e-cfd402496552", "type": null, "evidence_graph": {"nodes": [{"lbl": "some variant of COL25A1 that causes Fibrosis of extraocular muscles, congenital, 5", "id": ":.well-known/genid/OMIM610004-616219VL"}, {"lbl": null, "id": "MONARCH:55af007eab607d18a7fd79f58a567620535ce8ce"}, {"lbl": null, "id": "MONARCH:74ad9f8e9f8c3594d343e19ab156bafcaa996882"}, {"lbl": "some variant of no KO assigned | (RefSeq) COL25A1", "id": ":.well-known/genid/KEGG-hsa84570-OMIM616219VL"}, {"lbl": 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["disease"], "definition_std": ["A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions."], "id_eng": "DOID:14330", "definition_kw": ["A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions."], "category_eng": ["disease"], "equivalent_curie_kw": ["UMLS:CN230452", "MESH:D010300", "UMLS:C0030567"], "label_kw": ["Parkinson's disease"], "synonym": ["Primary Parkinsonism", "Idiopathic Parkinson's Disease", "Parkinson disease", "Paralysis Agitans", "paralysis agitans", "Parkinson's Disease", "Lewy Body Parkinson Disease", "Parkinson Disease, Idiopathic", "Parkinson's Disease, Idiopathic", "Parkinsonism, Primary", "Parkinson's Disease, Lewy Body", "Idiopathic Parkinson Disease", "Lewy Body Parkinson's Disease"], "score": 33.683426, "id_std": "DOID:14330", "equivalent_curie_std": ["UMLS:CN230452", "MESH:D010300", "UMLS:C0030567"], "id": "DOID:14330", "equivalent_iri": ["http://purl.obolibrary.org/obo/UMLS_CN230452", "http://purl.obolibrary.org/obo/MESH_D010300", "http://purl.obolibrary.org/obo/UMLS_C0030567"], "iri_std": "http://purl.obolibrary.org/obo/DOID_14330", "id_kw": "DOID:14330", "leaf": false, "category": ["disease"], "category_std": ["disease"], "definition_eng": ["A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions."], "equivalent_curie_eng": ["UMLS:CN230452", "MESH:D010300", "UMLS:C0030567"], "label": ["Parkinson's disease"], "label_std": ["Parkinson's disease"], "definition": ["A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions."], "synonym_std": ["Primary Parkinsonism", "Idiopathic Parkinson's Disease", "Parkinson disease", "Paralysis Agitans", "paralysis agitans", "Parkinson's Disease", "Lewy Body Parkinson Disease", "Parkinson Disease, Idiopathic", "Parkinson's Disease, Idiopathic", "Parkinsonism, Primary", "Parkinson's Disease, Lewy Body", "Idiopathic Parkinson Disease", "Lewy Body Parkinson's Disease"], "equivalent_curie": ["UMLS:CN230452", "MESH:D010300", "UMLS:C0030567"]}, {"equivalent_iri_kw": ["http://purl.obolibrary.org/obo/MESH_C564653", "http://purl.obolibrary.org/obo/UMLS_C1847360"], "synonym_eng": ["Parkinson Disease, Age at Onset of", "PARK10", "PARKINSON DISEASE 10; PARK10", "Parkinson Disease type 10", "Parkinson Disease, Age At Onset Of"], "synonym_kw": ["Parkinson Disease, Age at Onset of", "PARK10", "PARKINSON DISEASE 10; PARK10", "Parkinson Disease type 10", "Parkinson Disease, Age At Onset Of"], "iri": "http://purl.obolibrary.org/obo/OMIM_606852", "_version_": 1564148010558947328, "label_eng": ["PARK10"], "equivalent_iri_eng": ["http://purl.obolibrary.org/obo/MESH_C564653", "http://purl.obolibrary.org/obo/UMLS_C1847360"], "iri_kw": "http://purl.obolibrary.org/obo/OMIM_606852", "iri_eng": "http://purl.obolibrary.org/obo/OMIM_606852", "category_kw": ["disease"], "id_eng": "OMIM:606852", "equivalent_iri_std": ["http://purl.obolibrary.org/obo/MESH_C564653", "http://purl.obolibrary.org/obo/UMLS_C1847360"], "category_eng": ["disease"], "equivalent_curie_kw": ["MESH:C564653", "UMLS:C1847360"], "label_kw": ["PARK10"], "synonym": ["Parkinson Disease, Age at Onset of", "PARK10", "PARKINSON DISEASE 10; PARK10", "Parkinson Disease type 10", "Parkinson Disease, Age At Onset Of"], "score": 32.129173, "id_std": "OMIM:606852", "equivalent_curie_std": ["MESH:C564653", "UMLS:C1847360"], "id": "OMIM:606852", "equivalent_iri": ["http://purl.obolibrary.org/obo/MESH_C564653", "http://purl.obolibrary.org/obo/UMLS_C1847360"], "iri_std": "http://purl.obolibrary.org/obo/OMIM_606852", "id_kw": "OMIM:606852", "leaf": true, "category": ["disease"], "category_std": ["disease"], "equivalent_curie_eng": ["MESH:C564653", "UMLS:C1847360"], "label": ["PARK10"], "label_std": ["PARK10"], "synonym_std": ["Parkinson Disease, Age at Onset of", "PARK10", "PARKINSON DISEASE 10; PARK10", "Parkinson Disease type 10", "Parkinson Disease, Age At Onset Of"], "equivalent_curie": ["MESH:C564653", "UMLS:C1847360"]}, {"equivalent_iri_kw": ["http://purl.obolibrary.org/obo/DOID_0060897", "http://purl.obolibrary.org/obo/UMLS_C3280133"], "synonym_eng": ["Parkinson Disease type 17", "autosomal dominant Parkinson disease 17", "PARK17", "Parkinson disease type 17", "PARKINSON DISEASE 17; PARK17"], "synonym_kw": ["Parkinson Disease type 17", "autosomal dominant Parkinson disease 17", "PARK17", "Parkinson disease type 17", "PARKINSON DISEASE 17; PARK17"], "equivalent_iri_std": ["http://purl.obolibrary.org/obo/DOID_0060897", "http://purl.obolibrary.org/obo/UMLS_C3280133"], "iri": "http://purl.obolibrary.org/obo/OMIM_614203", "_version_": 1564148004686921729, "label_eng": ["Parkinson disease 17"], "equivalent_iri_eng": ["http://purl.obolibrary.org/obo/DOID_0060897", "http://purl.obolibrary.org/obo/UMLS_C3280133"], "iri_kw": "http://purl.obolibrary.org/obo/OMIM_614203", "iri_eng": "http://purl.obolibrary.org/obo/OMIM_614203", "category_kw": ["disease"], "definition_std": ["A late-onset Parkinson disease that has_material_basis_in heterozygous mutation in the VPS35 gene on chromosome 16q13."], "id_eng": "OMIM:614203", "definition_kw": ["A late-onset Parkinson disease that has_material_basis_in heterozygous mutation in the VPS35 gene on chromosome 16q13."], "category_eng": ["disease"], "equivalent_curie_kw": ["DOID:0060897", "UMLS:C3280133"], "label_kw": ["Parkinson disease 17"], "synonym": ["Parkinson Disease type 17", "autosomal dominant Parkinson disease 17", "PARK17", "Parkinson disease type 17", "PARKINSON DISEASE 17; PARK17"], "score": 32.129173, "id_std": "OMIM:614203", "equivalent_curie_std": ["DOID:0060897", "UMLS:C3280133"], "id": "OMIM:614203", "equivalent_iri": ["http://purl.obolibrary.org/obo/DOID_0060897", "http://purl.obolibrary.org/obo/UMLS_C3280133"], "iri_std": "http://purl.obolibrary.org/obo/OMIM_614203", "id_kw": "OMIM:614203", "leaf": true, "category": ["disease"], "category_std": ["disease"], "definition_eng": ["A late-onset Parkinson disease that has_material_basis_in heterozygous mutation in the VPS35 gene on chromosome 16q13."], "equivalent_curie_eng": ["DOID:0060897", "UMLS:C3280133"], "label": ["Parkinson disease 17"], "label_std": ["Parkinson disease 17"], "definition": ["A late-onset Parkinson disease that has_material_basis_in heterozygous mutation in the VPS35 gene on chromosome 16q13."], "synonym_std": ["Parkinson Disease type 17", "autosomal dominant Parkinson disease 17", "PARK17", "Parkinson disease type 17", "PARKINSON DISEASE 17; PARK17"], "equivalent_curie": ["DOID:0060897", "UMLS:C3280133"]}, {"equivalent_iri_kw": ["http://purl.obolibrary.org/obo/MESH_C564486", "http://purl.obolibrary.org/obo/UMLS_C1845165"], "synonym_eng": ["Parkinson Disease, X-Linked", "PARK12", "Parkinson Disease type 12", "PARKINSON DISEASE 12; PARK12"], "synonym_kw": ["Parkinson Disease, X-Linked", "PARK12", "Parkinson Disease type 12", "PARKINSON DISEASE 12; PARK12"], "iri": "http://purl.obolibrary.org/obo/OMIM_300557", "_version_": 1564148008489058304, "label_eng": ["PARK12"], "equivalent_iri_eng": ["http://purl.obolibrary.org/obo/MESH_C564486", "http://purl.obolibrary.org/obo/UMLS_C1845165"], "iri_kw": "http://purl.obolibrary.org/obo/OMIM_300557", "iri_eng": "http://purl.obolibrary.org/obo/OMIM_300557", "category_kw": ["disease"], "id_eng": "OMIM:300557", "equivalent_iri_std": ["http://purl.obolibrary.org/obo/MESH_C564486", "http://purl.obolibrary.org/obo/UMLS_C1845165"], "category_eng": ["disease"], "equivalent_curie_kw": ["MESH:C564486", "UMLS:C1845165"], "label_kw": ["PARK12"], "synonym": ["Parkinson Disease, X-Linked", "PARK12", "Parkinson Disease type 12", "PARKINSON DISEASE 12; PARK12"], "score": 31.771923, "id_std": "OMIM:300557", "equivalent_curie_std": ["MESH:C564486", "UMLS:C1845165"], "id": "OMIM:300557", "equivalent_iri": ["http://purl.obolibrary.org/obo/MESH_C564486", "http://purl.obolibrary.org/obo/UMLS_C1845165"], "iri_std": "http://purl.obolibrary.org/obo/OMIM_300557", "id_kw": "OMIM:300557", "leaf": true, "category": ["disease"], "category_std": ["disease"], "equivalent_curie_eng": ["MESH:C564486", "UMLS:C1845165"], "label": ["PARK12"], "label_std": ["PARK12"], "synonym_std": ["Parkinson Disease, X-Linked", "PARK12", "Parkinson Disease type 12", "PARKINSON DISEASE 12; PARK12"], "equivalent_curie": ["MESH:C564486", "UMLS:C1845165"]}, {"equivalent_iri_kw": ["http://purl.obolibrary.org/obo/UMLS_C3489791"], "synonym_eng": ["Lewy Body Parkinsonism", "Parkinson Disease, Autosomal Dominant", "Atypical Parkinson Disease"], "synonym_kw": ["Lewy Body Parkinsonism", "Parkinson Disease, Autosomal Dominant", "Atypical Parkinson Disease"], "iri": 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In this syndrome, atrial impulses are abnormally conducted to the HEART VENTRICLES via an ACCESSORY CONDUCTING PATHWAY that is located between the wall of the right or left atria and the ventricles, also known as a BUNDLE OF KENT. The inherited form can be caused by mutation of PRKAG2 gene encoding a gamma-2 regulatory subunit of AMP-activated protein kinase."], "equivalent_curie_eng": ["UMLS:C0043202", "UMLS:C0392470", "DOID:384", "MESH:D014927"], "label": ["Wolff-Parkinson-White syndrome"], "label_std": ["Wolff-Parkinson-White syndrome"], "definition": ["A form of ventricular pre-excitation characterized by a short PR interval and a long QRS interval with a delta wave. In this syndrome, atrial impulses are abnormally conducted to the HEART VENTRICLES via an ACCESSORY CONDUCTING PATHWAY that is located between the wall of the right or left atria and the ventricles, also known as a BUNDLE OF KENT. 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of the Striatum", "MPTP-Induced Parkinsonism", "Neurotoxicity Syndromes, MPTP", "MPTP Induced Parkinsonism", "Neurotoxicity Syndrome, MPTP", "MPTP-Induced Degeneration of the Striatum"], "equivalent_iri_std": ["http://purl.obolibrary.org/obo/UMLS_C0751864"], "iri": "http://purl.obolibrary.org/obo/MESH_D020267", "_version_": 1564148005004640258, "label_eng": ["MPTP Poisoning"], "equivalent_iri_eng": ["http://purl.obolibrary.org/obo/UMLS_C0751864"], "iri_kw": "http://purl.obolibrary.org/obo/MESH_D020267", "iri_eng": "http://purl.obolibrary.org/obo/MESH_D020267", "category_kw": ["disease"], "definition_std": ["A condition caused by the neurotoxin MPTP which causes selective destruction of nigrostriatal dopaminergic neurons. Clinical features include irreversible parkinsonian signs including rigidity and bradykinesia (PARKINSON DISEASE, SECONDARY). MPTP toxicity is also used as an animal model for the study of PARKINSON DISEASE. (Adams et al., Principles of Neurology, 6th ed, p1072; Neurology 1986 Feb;36(2):250-8)"], "id_eng": "MESH:D020267", "definition_kw": ["A condition caused by the neurotoxin MPTP which causes selective destruction of nigrostriatal dopaminergic neurons. Clinical features include irreversible parkinsonian signs including rigidity and bradykinesia (PARKINSON DISEASE, SECONDARY). MPTP toxicity is also used as an animal model for the study of PARKINSON DISEASE. (Adams et al., Principles of Neurology, 6th ed, p1072; Neurology 1986 Feb;36(2):250-8)"], "category_eng": ["disease"], "equivalent_curie_kw": ["UMLS:C0751864"], "label_kw": ["MPTP Poisoning"], "synonym": ["Parkinsonism, MPTP-Induced", "Poisoning, MPTP", "Poisoning, 1-Methyl-4-phenyl-1,2,3,6-tetrahydropyridine", "MPTP Neurotoxicity Syndromes", "MPTP Neurotoxicity Syndrome", "MPTP Induced Degeneration of the Striatum", "MPTP-Induced Parkinsonism", "Neurotoxicity Syndromes, MPTP", "MPTP Induced Parkinsonism", "Neurotoxicity Syndrome, MPTP", "MPTP-Induced Degeneration of the Striatum"], "score": 26.949308, "id_std": "MESH:D020267", "equivalent_curie_std": ["UMLS:C0751864"], "id": "MESH:D020267", "equivalent_iri": ["http://purl.obolibrary.org/obo/UMLS_C0751864"], "iri_std": "http://purl.obolibrary.org/obo/MESH_D020267", "id_kw": "MESH:D020267", "leaf": true, "category": ["disease"], "category_std": ["disease"], "definition_eng": ["A condition caused by the neurotoxin MPTP which causes selective destruction of nigrostriatal dopaminergic neurons. Clinical features include irreversible parkinsonian signs including rigidity and bradykinesia (PARKINSON DISEASE, SECONDARY). MPTP toxicity is also used as an animal model for the study of PARKINSON DISEASE. (Adams et al., Principles of Neurology, 6th ed, p1072; Neurology 1986 Feb;36(2):250-8)"], "equivalent_curie_eng": ["UMLS:C0751864"], "label": ["MPTP Poisoning"], "label_std": ["MPTP Poisoning"], "definition": ["A condition caused by the neurotoxin MPTP which causes selective destruction of nigrostriatal dopaminergic neurons. Clinical features include irreversible parkinsonian signs including rigidity and bradykinesia (PARKINSON DISEASE, SECONDARY). MPTP toxicity is also used as an animal model for the study of PARKINSON DISEASE. (Adams et al., Principles of Neurology, 6th ed, p1072; Neurology 1986 Feb;36(2):250-8)"], "synonym_std": ["Parkinsonism, MPTP-Induced", "Poisoning, MPTP", "Poisoning, 1-Methyl-4-phenyl-1,2,3,6-tetrahydropyridine", "MPTP Neurotoxicity Syndromes", "MPTP Neurotoxicity Syndrome", "MPTP Induced Degeneration of the Striatum", "MPTP-Induced Parkinsonism", "Neurotoxicity Syndromes, MPTP", "MPTP Induced Parkinsonism", "Neurotoxicity Syndrome, MPTP", "MPTP-Induced Degeneration of the Striatum"], "equivalent_curie": ["UMLS:C0751864"]}, {"equivalent_iri_kw": ["http://purl.obolibrary.org/obo/UMLS_C1838867", "http://purl.obolibrary.org/obo/MESH_C564015"], "synonym_eng": ["PARKINSON DISEASE, MITOCHONDRIAL"], "synonym_kw": ["PARKINSON DISEASE, MITOCHONDRIAL"], "iri": "http://purl.obolibrary.org/obo/OMIM_556500", "_version_": 1564147974857031680, "label_eng": ["Parkinson Disease, Mitochondrial"], "equivalent_iri_eng": ["http://purl.obolibrary.org/obo/UMLS_C1838867", "http://purl.obolibrary.org/obo/MESH_C564015"], "iri_kw": "http://purl.obolibrary.org/obo/OMIM_556500", "iri_eng": "http://purl.obolibrary.org/obo/OMIM_556500", "category_kw": ["disease"], "id_eng": "OMIM:556500", "equivalent_iri_std": ["http://purl.obolibrary.org/obo/UMLS_C1838867", "http://purl.obolibrary.org/obo/MESH_C564015"], "category_eng": ["disease"], "equivalent_curie_kw": ["UMLS:C1838867", "MESH:C564015"], "label_kw": ["Parkinson Disease, Mitochondrial"], "synonym": ["PARKINSON DISEASE, MITOCHONDRIAL"], "score": 26.897432, "id_std": "OMIM:556500", "equivalent_curie_std": ["UMLS:C1838867", "MESH:C564015"], "id": "OMIM:556500", "equivalent_iri": ["http://purl.obolibrary.org/obo/UMLS_C1838867", "http://purl.obolibrary.org/obo/MESH_C564015"], "iri_std": "http://purl.obolibrary.org/obo/OMIM_556500", "id_kw": "OMIM:556500", "leaf": true, "category": ["disease"], "category_std": ["disease"], "equivalent_curie_eng": ["UMLS:C1838867", "MESH:C564015"], "label": ["Parkinson Disease, Mitochondrial"], "label_std": ["Parkinson Disease, Mitochondrial"], "synonym_std": ["PARKINSON DISEASE, MITOCHONDRIAL"], "equivalent_curie": ["UMLS:C1838867", "MESH:C564015"]}, {"equivalent_iri_kw": ["http://purl.obolibrary.org/obo/UMLS_C2931436"], "synonym_eng": ["Parkinson disease type 3"], "synonym_kw": ["Parkinson disease type 3"], "iri": "http://purl.obolibrary.org/obo/MESH_C537176", "_version_": 1564148012643516420, "label_eng": ["Parkinson disease 3"], "equivalent_iri_eng": ["http://purl.obolibrary.org/obo/UMLS_C2931436"], "iri_kw": "http://purl.obolibrary.org/obo/MESH_C537176", "iri_eng": "http://purl.obolibrary.org/obo/MESH_C537176", "category_kw": ["disease"], "id_eng": "MESH:C537176", "equivalent_iri_std": ["http://purl.obolibrary.org/obo/UMLS_C2931436"], "category_eng": ["disease"], "equivalent_curie_kw": ["UMLS:C2931436"], "label_kw": ["Parkinson disease 3"], "synonym": ["Parkinson disease type 3"], "score": 26.897432, "id_std": "MESH:C537176", "equivalent_curie_std": ["UMLS:C2931436"], "id": "MESH:C537176", "equivalent_iri": ["http://purl.obolibrary.org/obo/UMLS_C2931436"], "iri_std": "http://purl.obolibrary.org/obo/MESH_C537176", "id_kw": "MESH:C537176", "leaf": true, "category": ["disease"], "category_std": ["disease"], "equivalent_curie_eng": ["UMLS:C2931436"], "label": ["Parkinson disease 3"], "label_std": ["Parkinson disease 3"], "synonym_std": ["Parkinson disease type 3"], "equivalent_curie": ["UMLS:C2931436"]}, {"equivalent_iri_kw": ["http://purl.obolibrary.org/obo/UMLS_C3496588"], "synonym_eng": ["Parkinson Disease type 13"], "synonym_kw": ["Parkinson Disease type 13"], "iri": "http://purl.obolibrary.org/obo/MESH_C565204", "_version_": 1564147994138247170, "label_eng": ["Parkinson Disease 13"], "equivalent_iri_eng": ["http://purl.obolibrary.org/obo/UMLS_C3496588"], "iri_kw": "http://purl.obolibrary.org/obo/MESH_C565204", "iri_eng": "http://purl.obolibrary.org/obo/MESH_C565204", "category_kw": ["disease"], "id_eng": "MESH:C565204", "equivalent_iri_std": ["http://purl.obolibrary.org/obo/UMLS_C3496588"], "category_eng": ["disease"], "equivalent_curie_kw": ["UMLS:C3496588"], "label_kw": ["Parkinson Disease 13"], "synonym": ["Parkinson Disease type 13"], "score": 26.897432, "id_std": "MESH:C565204", "equivalent_curie_std": ["UMLS:C3496588"], "id": "MESH:C565204", "equivalent_iri": ["http://purl.obolibrary.org/obo/UMLS_C3496588"], "iri_std": "http://purl.obolibrary.org/obo/MESH_C565204", "id_kw": "MESH:C565204", "leaf": true, "category": ["disease"], "category_std": ["disease"], "equivalent_curie_eng": ["UMLS:C3496588"], "label": ["Parkinson Disease 13"], "label_std": ["Parkinson Disease 13"], "synonym_std": ["Parkinson Disease type 13"], "equivalent_curie": ["UMLS:C3496588"]}, {"equivalent_iri_kw": ["http://purl.obolibrary.org/obo/UMLS_C3501658", "http://purl.obolibrary.org/obo/UMLS_C1846862"], "synonym_eng": ["Parkinson Disease type 8"], "synonym_kw": ["Parkinson Disease type 8"], "iri": "http://purl.obolibrary.org/obo/MESH_C564631", "_version_": 1564147994224230402, "label_eng": ["Parkinson Disease 8"], "equivalent_iri_eng": ["http://purl.obolibrary.org/obo/UMLS_C3501658", "http://purl.obolibrary.org/obo/UMLS_C1846862"], "iri_kw": "http://purl.obolibrary.org/obo/MESH_C564631", "iri_eng": "http://purl.obolibrary.org/obo/MESH_C564631", "category_kw": ["disease"], "id_eng": "MESH:C564631", "equivalent_iri_std": ["http://purl.obolibrary.org/obo/UMLS_C3501658", "http://purl.obolibrary.org/obo/UMLS_C1846862"], "category_eng": ["disease"], "equivalent_curie_kw": ["UMLS:C3501658", "UMLS:C1846862"], "label_kw": ["Parkinson Disease 8"], "synonym": ["Parkinson Disease type 8"], "score": 26.897432, "id_std": "MESH:C564631", "equivalent_curie_std": ["UMLS:C3501658", "UMLS:C1846862"], "id": "MESH:C564631", "equivalent_iri": ["http://purl.obolibrary.org/obo/UMLS_C3501658", "http://purl.obolibrary.org/obo/UMLS_C1846862"], "iri_std": "http://purl.obolibrary.org/obo/MESH_C564631", "id_kw": "MESH:C564631", "leaf": true, "category": ["disease"], "category_std": ["disease"], "equivalent_curie_eng": ["UMLS:C3501658", "UMLS:C1846862"], "label": ["Parkinson Disease 8"], "label_std": ["Parkinson Disease 8"], "synonym_std": ["Parkinson Disease type 8"], "equivalent_curie": ["UMLS:C3501658", "UMLS:C1846862"]}, {"synonym_eng": ["Parkinson Disease type 11"], "synonym_kw": ["Parkinson Disease type 11"], "iri": "http://purl.obolibrary.org/obo/MESH_C564345", "label_eng": ["Parkinson Disease 11"], "iri_kw": "http://purl.obolibrary.org/obo/MESH_C564345", "iri_eng": "http://purl.obolibrary.org/obo/MESH_C564345", "category_kw": ["disease"], "id_eng": "MESH:C564345", "leaf": true, "category_eng": ["disease"], "label_kw": ["Parkinson Disease 11"], "synonym": ["Parkinson Disease type 11"], "score": 26.897432, "id_std": "MESH:C564345", "id": "MESH:C564345", "iri_std": "http://purl.obolibrary.org/obo/MESH_C564345", "id_kw": "MESH:C564345", "_version_": 1564147994243104771, "category": ["disease"], "category_std": ["disease"], "label": ["Parkinson Disease 11"], "label_std": ["Parkinson Disease 11"], "synonym_std": ["Parkinson Disease type 11"]}, {"equivalent_iri_kw": ["http://purl.obolibrary.org/obo/UMLS_CN207200"], "synonym_eng": ["MSA, parkinsonian type", "MSA-p"], "synonym_kw": ["MSA, parkinsonian type", "MSA-p"], "equivalent_iri_std": ["http://purl.obolibrary.org/obo/UMLS_CN207200"], "iri": "http://www.orpha.net/ORDO/Orphanet_98933", "_version_": 1564147994636320769, "label_eng": ["Multiple system atrophy, parkinsonian type"], "equivalent_iri_eng": ["http://purl.obolibrary.org/obo/UMLS_CN207200"], "iri_kw": "http://www.orpha.net/ORDO/Orphanet_98933", "iri_eng": "http://www.orpha.net/ORDO/Orphanet_98933", "category_kw": ["disease"], "definition_std": ["Multiple system atrophy, parkinsonian type (MSA-p) is a form of multiple system atrophy (MSA; see this term) with predominant parkinsonian features (bradykinesia, rigidity, irregular jerky postural tremor, and postural instability)."], "id_eng": "Orphanet:98933", "definition_kw": ["Multiple system atrophy, parkinsonian type (MSA-p) is a form of multiple system atrophy (MSA; see this term) with predominant parkinsonian features (bradykinesia, rigidity, irregular jerky postural tremor, and postural instability)."], "category_eng": ["disease"], "equivalent_curie_kw": ["UMLS:CN207200"], "label_kw": ["Multiple system atrophy, parkinsonian type"], "synonym": ["MSA, parkinsonian type", "MSA-p"], "score": 26.897432, "id_std": "Orphanet:98933", "equivalent_curie_std": ["UMLS:CN207200"], "id": "Orphanet:98933", "equivalent_iri": ["http://purl.obolibrary.org/obo/UMLS_CN207200"], "iri_std": "http://www.orpha.net/ORDO/Orphanet_98933", "id_kw": "Orphanet:98933", "leaf": true, "category": ["disease"], "category_std": ["disease"], "definition_eng": ["Multiple system atrophy, parkinsonian type (MSA-p) is a form of multiple system atrophy (MSA; see this term) with predominant parkinsonian features (bradykinesia, rigidity, irregular jerky postural tremor, and postural instability)."], "equivalent_curie_eng": ["UMLS:CN207200"], "label": ["Multiple system atrophy, parkinsonian type"], "label_std": ["Multiple system atrophy, parkinsonian type"], "definition": ["Multiple system atrophy, parkinsonian type (MSA-p) is a form of multiple system atrophy (MSA; see this term) with predominant parkinsonian features (bradykinesia, rigidity, irregular jerky postural tremor, and postural instability)."], "synonym_std": ["MSA, parkinsonian type", "MSA-p"], "equivalent_curie": ["UMLS:CN207200"]}, {"equivalent_iri_kw": ["http://purl.obolibrary.org/obo/UMLS_C3501657"], "synonym_eng": ["Parkinson Disease type 5"], "synonym_kw": ["Parkinson Disease type 5"], "iri": "http://purl.obolibrary.org/obo/MESH_C566017", "_version_": 1564147994685603844, "label_eng": ["Parkinson Disease 5"], "equivalent_iri_eng": ["http://purl.obolibrary.org/obo/UMLS_C3501657"], "iri_kw": "http://purl.obolibrary.org/obo/MESH_C566017", "iri_eng": "http://purl.obolibrary.org/obo/MESH_C566017", "category_kw": ["disease"], "id_eng": "MESH:C566017", "equivalent_iri_std": ["http://purl.obolibrary.org/obo/UMLS_C3501657"], "category_eng": ["disease"], "equivalent_curie_kw": ["UMLS:C3501657"], "label_kw": ["Parkinson Disease 5"], "synonym": ["Parkinson Disease type 5"], "score": 26.897432, "id_std": "MESH:C566017", "equivalent_curie_std": ["UMLS:C3501657"], "id": "MESH:C566017", "equivalent_iri": ["http://purl.obolibrary.org/obo/UMLS_C3501657"], "iri_std": "http://purl.obolibrary.org/obo/MESH_C566017", "id_kw": "MESH:C566017", "leaf": true, "category": ["disease"], "category_std": ["disease"], "equivalent_curie_eng": ["UMLS:C3501657"], "label": ["Parkinson Disease 5"], "label_std": ["Parkinson Disease 5"], "synonym_std": ["Parkinson Disease type 5"], "equivalent_curie": ["UMLS:C3501657"]}, {"synonym_eng": ["Parkinson Disease 14, Autosomal Recessive"], "synonym_kw": ["Parkinson Disease 14, Autosomal Recessive"], "iri": "http://purl.obolibrary.org/obo/MESH_C567844", "label_eng": ["Dystonia-Parkinsonism, Adult-Onset"], "iri_kw": "http://purl.obolibrary.org/obo/MESH_C567844", "iri_eng": "http://purl.obolibrary.org/obo/MESH_C567844", "category_kw": ["disease"], "id_eng": "MESH:C567844", "leaf": true, "category_eng": ["disease"], "label_kw": ["Dystonia-Parkinsonism, Adult-Onset"], "synonym": ["Parkinson Disease 14, Autosomal Recessive"], "score": 26.897432, "id_std": "MESH:C567844", "id": "MESH:C567844", "iri_std": "http://purl.obolibrary.org/obo/MESH_C567844", "id_kw": "MESH:C567844", "_version_": 1564147996191358977, "category": ["disease"], "category_std": ["disease"], "label": ["Dystonia-Parkinsonism, Adult-Onset"], "label_std": ["Dystonia-Parkinsonism, Adult-Onset"], "synonym_std": ["Parkinson Disease 14, Autosomal Recessive"]}, {"taxon_eng": "NCBITaxon:13616", "taxon_label_synonym": ["gray short-tailed opossum", "Monodelphis domesticus"], "taxon_std": "NCBITaxon:13616", "equivalent_curie": ["ENSEMBL:ENSMODG00000009595"], "taxon_label_eng": "Monodelphis domestica", "synonym_kw": ["protein deglycase DJ-1", "parkinson protein 7"], "equivalent_iri_std": ["http://identifiers.org/ensembl/ENSMODG00000009595"], "iri": "http://www.ncbi.nlm.nih.gov/gene/100010357", "_version_": 1564148045310853120, "label_eng": ["PARK7"], "taxon_kw": "NCBITaxon:13616", "iri_kw": "http://www.ncbi.nlm.nih.gov/gene/100010357", "taxon_label_kw": "Monodelphis domestica", "iri_eng": "http://www.ncbi.nlm.nih.gov/gene/100010357", "category_kw": ["gene"], "taxon_label_synonym_std": ["gray short-tailed opossum", "Monodelphis domesticus"], "synonym_eng": ["protein deglycase DJ-1", "parkinson protein 7"], "id_kw": "NCBIGene:100010357", "id_eng": "NCBIGene:100010357", "category": ["gene"], "category_eng": ["gene"], "equivalent_curie_kw": ["ENSEMBL:ENSMODG00000009595"], "label_kw": ["PARK7"], "synonym": ["protein deglycase DJ-1", "parkinson protein 7"], "score": 26.897432, "id_std": "NCBIGene:100010357", "equivalent_curie_std": ["ENSEMBL:ENSMODG00000009595"], "id": "NCBIGene:100010357", "equivalent_iri": ["http://identifiers.org/ensembl/ENSMODG00000009595"], "iri_std": "http://www.ncbi.nlm.nih.gov/gene/100010357", "equivalent_iri_kw": ["http://identifiers.org/ensembl/ENSMODG00000009595"], "taxon": "NCBITaxon:13616", "leaf": true, "taxon_label_synonym_kw": ["gray short-tailed opossum", "Monodelphis domesticus"], "category_std": ["gene"], "equivalent_curie_eng": ["ENSEMBL:ENSMODG00000009595"], "label": ["PARK7"], "taxon_label_std": "Monodelphis domestica", "equivalent_iri_eng": ["http://identifiers.org/ensembl/ENSMODG00000009595"], "label_std": ["PARK7"], "synonym_std": ["protein deglycase DJ-1", "parkinson protein 7"], "taxon_label_synonym_eng": ["gray short-tailed opossum", "Monodelphis domesticus"], "taxon_label": "Monodelphis domestica"}, {"taxon_eng": "NCBITaxon:28377", "taxon_label_synonym": ["Carolina anole", "green anole"], "taxon_std": "NCBITaxon:28377", "equivalent_curie": ["ENSEMBL:ENSACAG00000017386"], "taxon_label_eng": "Anolis carolinensis", "synonym_kw": ["protein deglycase DJ-1", "parkinson protein 7"], "equivalent_iri_std": ["http://identifiers.org/ensembl/ENSACAG00000017386"], "iri": "http://www.ncbi.nlm.nih.gov/gene/100551640", "_version_": 1564148050910248960, "label_eng": ["park7"], "taxon_kw": "NCBITaxon:28377", "iri_kw": "http://www.ncbi.nlm.nih.gov/gene/100551640", "taxon_label_kw": "Anolis carolinensis", "iri_eng": "http://www.ncbi.nlm.nih.gov/gene/100551640", "category_kw": ["gene"], "taxon_label_synonym_std": ["Carolina anole", "green anole"], "synonym_eng": ["protein deglycase DJ-1", "parkinson protein 7"], "id_kw": "NCBIGene:100551640", "id_eng": "NCBIGene:100551640", "category": ["gene"], "category_eng": ["gene"], "equivalent_curie_kw": ["ENSEMBL:ENSACAG00000017386"], "label_kw": ["park7"], "synonym": ["protein deglycase DJ-1", "parkinson protein 7"], "score": 26.897432, "id_std": 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{"equivalent_iri_kw": ["http://purl.obolibrary.org/obo/UMLS_C1853202"], "synonym_eng": ["PARK13", "PARKINSON DISEASE 13, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK13"], "synonym_kw": ["PARK13", "PARKINSON DISEASE 13, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK13"], "iri": "http://purl.obolibrary.org/obo/OMIM_610297", "_version_": 1564147997653073921, "label_eng": ["Parkinson Disease 13, Autosomal Dominant, Susceptibility to"], "equivalent_iri_eng": ["http://purl.obolibrary.org/obo/UMLS_C1853202"], "iri_kw": "http://purl.obolibrary.org/obo/OMIM_610297", "iri_eng": "http://purl.obolibrary.org/obo/OMIM_610297", "category_kw": ["disease"], "id_eng": "OMIM:610297", "equivalent_iri_std": ["http://purl.obolibrary.org/obo/UMLS_C1853202"], "category_eng": ["disease"], "equivalent_curie_kw": ["UMLS:C1853202"], "label_kw": ["Parkinson Disease 13, Autosomal Dominant, Susceptibility to"], "synonym": ["PARK13", "PARKINSON DISEASE 13, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK13"], "score": 25.713886, "id_std": "OMIM:610297", "equivalent_curie_std": ["UMLS:C1853202"], "id": "OMIM:610297", "equivalent_iri": ["http://purl.obolibrary.org/obo/UMLS_C1853202"], "iri_std": "http://purl.obolibrary.org/obo/OMIM_610297", "id_kw": "OMIM:610297", "leaf": true, "category": ["disease"], "category_std": ["disease"], "equivalent_curie_eng": ["UMLS:C1853202"], "label": ["Parkinson Disease 13, Autosomal Dominant, Susceptibility to"], "label_std": ["Parkinson Disease 13, Autosomal Dominant, Susceptibility to"], "synonym_std": ["PARK13", "PARKINSON DISEASE 13, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK13"], "equivalent_curie": ["UMLS:C1853202"]}, {"taxon_eng": "NCBITaxon:9615", "taxon_label_synonym": ["Canis domesticus", "dogs", "Canis familiaris", "dog", "Canis canis"], "taxon_std": "NCBITaxon:9615", "equivalent_curie": ["ENSEMBL:ENSCAFG00000031406"], "taxon_label_eng": "Canis lupus familiaris", "synonym_kw": ["Parkinson disease 7 domain-containing protein 1", "PDDC1"], "equivalent_iri_std": ["http://identifiers.org/ensembl/ENSCAFG00000031406"], "iri": "http://www.ncbi.nlm.nih.gov/gene/610760", "_version_": 1564148024082432000, "label_eng": ["LOC610760"], "taxon_kw": "NCBITaxon:9615", "iri_kw": "http://www.ncbi.nlm.nih.gov/gene/610760", "taxon_label_kw": "Canis lupus familiaris", "iri_eng": "http://www.ncbi.nlm.nih.gov/gene/610760", "category_kw": ["gene"], "taxon_label_synonym_std": ["Canis domesticus", "dogs", "Canis familiaris", "dog", "Canis canis"], "synonym_eng": ["Parkinson disease 7 domain-containing protein 1", "PDDC1"], "id_kw": "NCBIGene:610760", "id_eng": "NCBIGene:610760", "category": ["gene"], "category_eng": ["gene"], "equivalent_curie_kw": ["ENSEMBL:ENSCAFG00000031406"], "label_kw": ["LOC610760"], "synonym": ["Parkinson disease 7 domain-containing protein 1", "PDDC1"], "score": 25.713886, "id_std": "NCBIGene:610760", "equivalent_curie_std": ["ENSEMBL:ENSCAFG00000031406"], "id": "NCBIGene:610760", "equivalent_iri": ["http://identifiers.org/ensembl/ENSCAFG00000031406"], "iri_std": "http://www.ncbi.nlm.nih.gov/gene/610760", "equivalent_iri_kw": ["http://identifiers.org/ensembl/ENSCAFG00000031406"], "taxon": "NCBITaxon:9615", "leaf": true, "taxon_label_synonym_kw": ["Canis domesticus", "dogs", "Canis familiaris", "dog", "Canis canis"], "category_std": ["gene"], "equivalent_curie_eng": ["ENSEMBL:ENSCAFG00000031406"], "label": ["LOC610760"], "taxon_label_std": "Canis lupus familiaris", "equivalent_iri_eng": ["http://identifiers.org/ensembl/ENSCAFG00000031406"], "label_std": ["LOC610760"], "synonym_std": ["Parkinson disease 7 domain-containing protein 1", "PDDC1"], "taxon_label_synonym_eng": ["Canis domesticus", "dogs", "Canis familiaris", "dog", "Canis canis"], "taxon_label": "Canis lupus familiaris"}, {"synonym_eng": ["LOPD", "Autosomal dominant late-onset Parkinson disease"], "synonym_kw": ["LOPD", "Autosomal dominant late-onset Parkinson disease"], "iri": "http://www.orpha.net/ORDO/Orphanet_411602", "label_eng": ["Hereditary late-onset Parkinson disease"], "iri_kw": "http://www.orpha.net/ORDO/Orphanet_411602", "iri_eng": "http://www.orpha.net/ORDO/Orphanet_411602", "category_kw": ["disease"], "definition_std": ["Hereditary late-onset Parkinson disease (LOPD) is a form of Parkinson disease (PD), characterized by an age of onset of more than 50 years, tremor at rest, gait complaints and falls, bradykinesia, rigidity and painful cramps. 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Patients usually present a low risk of developing non motor symptoms, dystonia, dyskinesia and levodopa-induced dyskinesia (LID)."], "synonym_std": ["LOPD", "Autosomal dominant late-onset Parkinson disease"]}, {"equivalent_iri_kw": ["http://purl.obolibrary.org/obo/UMLS_C3150899"], "synonym_eng": ["PARKINSON DISEASE 5, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK5", "PARK5"], "synonym_kw": ["PARKINSON DISEASE 5, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK5", "PARK5"], "iri": "http://purl.obolibrary.org/obo/OMIM_613643", "_version_": 1564148004296851457, "label_eng": ["Parkinson Disease 5, Autosomal Dominant, Susceptibility to"], "equivalent_iri_eng": ["http://purl.obolibrary.org/obo/UMLS_C3150899"], "iri_kw": "http://purl.obolibrary.org/obo/OMIM_613643", "iri_eng": "http://purl.obolibrary.org/obo/OMIM_613643", "category_kw": ["disease"], "id_eng": "OMIM:613643", "equivalent_iri_std": ["http://purl.obolibrary.org/obo/UMLS_C3150899"], "category_eng": ["disease"], "equivalent_curie_kw": ["UMLS:C3150899"], "label_kw": ["Parkinson Disease 5, Autosomal Dominant, Susceptibility to"], "synonym": ["PARKINSON DISEASE 5, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK5", "PARK5"], "score": 25.713886, "id_std": "OMIM:613643", "equivalent_curie_std": ["UMLS:C3150899"], "id": "OMIM:613643", "equivalent_iri": ["http://purl.obolibrary.org/obo/UMLS_C3150899"], "iri_std": "http://purl.obolibrary.org/obo/OMIM_613643", "id_kw": "OMIM:613643", "leaf": true, "category": ["disease"], "category_std": ["disease"], "equivalent_curie_eng": ["UMLS:C3150899"], "label": ["Parkinson Disease 5, Autosomal Dominant, Susceptibility to"], "label_std": ["Parkinson Disease 5, Autosomal Dominant, Susceptibility to"], "synonym_std": ["PARKINSON DISEASE 5, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK5", "PARK5"], "equivalent_curie": ["UMLS:C3150899"]}, {"equivalent_iri_kw": ["http://purl.obolibrary.org/obo/UMLS_C3280271"], "synonym_eng": ["PARKINSON DISEASE 18, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK18", "PARK18"], "synonym_kw": ["PARKINSON DISEASE 18, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK18", "PARK18"], "equivalent_iri_std": ["http://purl.obolibrary.org/obo/UMLS_C3280271"], "iri": "http://purl.obolibrary.org/obo/OMIM_614251", "_version_": 1564148004669095936, "label_eng": ["Parkinson Disease 18, Autosomal Dominant, Susceptibility to"], "equivalent_iri_eng": ["http://purl.obolibrary.org/obo/UMLS_C3280271"], "iri_kw": "http://purl.obolibrary.org/obo/OMIM_614251", "iri_eng": "http://purl.obolibrary.org/obo/OMIM_614251", "category_kw": ["disease"], "definition_std": ["See http://www.omim.org/entry/614251"], "id_eng": "OMIM:614251", "definition_kw": ["See http://www.omim.org/entry/614251"], "category_eng": ["disease"], "equivalent_curie_kw": ["UMLS:C3280271"], "label_kw": ["Parkinson Disease 18, Autosomal Dominant, Susceptibility to"], "synonym": ["PARKINSON DISEASE 18, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK18", "PARK18"], "score": 25.713886, "id_std": "OMIM:614251", "equivalent_curie_std": ["UMLS:C3280271"], "id": "OMIM:614251", "equivalent_iri": ["http://purl.obolibrary.org/obo/UMLS_C3280271"], "iri_std": "http://purl.obolibrary.org/obo/OMIM_614251", "id_kw": "OMIM:614251", "leaf": true, "category": ["disease"], "category_std": ["disease"], "definition_eng": ["See http://www.omim.org/entry/614251"], "equivalent_curie_eng": ["UMLS:C3280271"], "label": ["Parkinson Disease 18, Autosomal Dominant, Susceptibility to"], "label_std": ["Parkinson Disease 18, Autosomal Dominant, Susceptibility to"], "definition": ["See http://www.omim.org/entry/614251"], "synonym_std": ["PARKINSON DISEASE 18, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK18", "PARK18"], "equivalent_curie": ["UMLS:C3280271"]}, {"taxon_eng": "NCBITaxon:9598", "taxon_label_synonym": ["Chimpansee troglodytes", "chimpanzee"], "taxon_std": "NCBITaxon:9598", "taxon_label_eng": "Pan troglodytes", "synonym_kw": ["LOC100610217", "Parkinson disease 7 domain-containing protein 1"], "iri": "http://www.ncbi.nlm.nih.gov/gene/740015", "label_eng": ["PDDC1"], "taxon_kw": "NCBITaxon:9598", "iri_kw": "http://www.ncbi.nlm.nih.gov/gene/740015", "taxon_label_kw": "Pan troglodytes", "iri_eng": "http://www.ncbi.nlm.nih.gov/gene/740015", "category_kw": ["gene"], "taxon_label_synonym_std": ["Chimpansee troglodytes", "chimpanzee"], "synonym_eng": ["LOC100610217", "Parkinson disease 7 domain-containing protein 1"], "id_kw": "NCBIGene:740015", "id_eng": "NCBIGene:740015", "category": ["gene"], "category_eng": ["gene"], "_version_": 1564148299845337090, "label_kw": ["PDDC1"], "synonym": ["LOC100610217", "Parkinson disease 7 domain-containing protein 1"], "score": 25.713886, "id_std": "NCBIGene:740015", "id": "NCBIGene:740015", "iri_std": "http://www.ncbi.nlm.nih.gov/gene/740015", "taxon": "NCBITaxon:9598", "leaf": true, "taxon_label_synonym_kw": ["Chimpansee troglodytes", "chimpanzee"], "category_std": ["gene"], "label": ["PDDC1"], "taxon_label_std": "Pan troglodytes", "label_std": 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"MESH:C538079"], "label_kw": ["Charcot-Marie-Tooth Disease With Ptosis and Parkinsonism"], "synonym": ["CHARCOT-MARIE-TOOTH DISEASE WITH PTOSIS AND PARKINSONISM"], "score": 24.624176, "id_std": "OMIM:118301", "equivalent_curie_std": ["UMLS:C1861668", "MESH:C538079"], "id": "OMIM:118301", "equivalent_iri": ["http://purl.obolibrary.org/obo/UMLS_C1861668", "http://purl.obolibrary.org/obo/MESH_C538079"], "iri_std": "http://purl.obolibrary.org/obo/OMIM_118301", "id_kw": "OMIM:118301", "leaf": true, "category": ["disease"], "category_std": ["disease"], "equivalent_curie_eng": ["UMLS:C1861668", "MESH:C538079"], "label": ["Charcot-Marie-Tooth Disease With Ptosis and Parkinsonism"], "label_std": ["Charcot-Marie-Tooth Disease With Ptosis and Parkinsonism"], "synonym_std": ["CHARCOT-MARIE-TOOTH DISEASE WITH PTOSIS AND PARKINSONISM"], "equivalent_curie": ["UMLS:C1861668", "MESH:C538079"]}, {"equivalent_iri_kw": ["http://purl.obolibrary.org/obo/UMLS_C2751067", "http://www.orpha.net/ORDO/Orphanet_238455", "http://purl.obolibrary.org/obo/MESH_C567730"], "synonym_eng": ["PARKINSONISM-DYSTONIA, INFANTILE; PKDYS", "Dopamine Transporter Deficiency Syndrome", "PKDYS", "IPD"], "synonym_kw": ["PARKINSONISM-DYSTONIA, INFANTILE; PKDYS", "Dopamine Transporter Deficiency Syndrome", "PKDYS", "IPD"], "equivalent_iri_std": ["http://purl.obolibrary.org/obo/UMLS_C2751067", "http://www.orpha.net/ORDO/Orphanet_238455", "http://purl.obolibrary.org/obo/MESH_C567730"], "iri": "http://purl.obolibrary.org/obo/OMIM_613135", "_version_": 1564148004080844800, "label_eng": ["Infantile dystonia-parkinsonism"], "equivalent_iri_eng": ["http://purl.obolibrary.org/obo/UMLS_C2751067", "http://www.orpha.net/ORDO/Orphanet_238455", "http://purl.obolibrary.org/obo/MESH_C567730"], "iri_kw": "http://purl.obolibrary.org/obo/OMIM_613135", "iri_eng": "http://purl.obolibrary.org/obo/OMIM_613135", "category_kw": ["disease"], "definition_std": ["Infantile dystonia-parkinsonism (IPD) is an extremely rare inherited neurological syndrome that presents in early infancy with hypokinetic parkinsonism and dystonia and that can be fatal."], "id_eng": "OMIM:613135", "definition_kw": ["Infantile dystonia-parkinsonism (IPD) is an extremely rare inherited neurological syndrome that presents in early infancy with hypokinetic parkinsonism and dystonia and that can be fatal."], "category_eng": ["disease"], "equivalent_curie_kw": ["UMLS:C2751067", "Orphanet:238455", "MESH:C567730"], "label_kw": ["Infantile dystonia-parkinsonism"], "synonym": ["PARKINSONISM-DYSTONIA, INFANTILE; PKDYS", "Dopamine Transporter Deficiency Syndrome", "PKDYS", "IPD"], "score": 24.624176, "id_std": "OMIM:613135", "equivalent_curie_std": ["UMLS:C2751067", "Orphanet:238455", "MESH:C567730"], "id": "OMIM:613135", "equivalent_iri": ["http://purl.obolibrary.org/obo/UMLS_C2751067", "http://www.orpha.net/ORDO/Orphanet_238455", "http://purl.obolibrary.org/obo/MESH_C567730"], "iri_std": 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["Tyrosine hydroxylase-deficient dopa-responsive dystonia", "Autosomal Recessive Infantile Parkinsonism", "Dopa-Responsive Dystonia, Autosomal Recessive", "DOPA responsive dystonia, autosomal recessive", "DYT5b", "Parkinsonism, Infantile, Autosomal Recessive", "Th-Deficient Drd", "Autosomal recessive Segawa syndrome", "Dystonia, Dopa-Responsive, Autosomal Recessive", "Tyrosine Hydroxylase Deficiency", "Dystonia, Dopa-Responsive, With Or Without Hyperphenylalaninemia, Autosomal Recessive", "SEGAWA SYNDROME, AUTOSOMAL RECESSIVE", "Dystonia, DOPA responsive, autosomal recessive", "Parkinsonism, infantile, autosomal recessive", "Tyrosine hydroxylase deficiency"], "equivalent_iri_std": ["http://www.orpha.net/ORDO/Orphanet_101150", "http://purl.obolibrary.org/obo/UMLS_C1854299", "http://purl.obolibrary.org/obo/UMLS_C2673535", "http://purl.obolibrary.org/obo/MESH_C537537"], "iri": "http://purl.obolibrary.org/obo/OMIM_605407", "_version_": 1564148009986424832, "label_eng": ["Autosomal recessive dopa-responsive dystonia"], "equivalent_iri_eng": ["http://www.orpha.net/ORDO/Orphanet_101150", "http://purl.obolibrary.org/obo/UMLS_C1854299", "http://purl.obolibrary.org/obo/UMLS_C2673535", "http://purl.obolibrary.org/obo/MESH_C537537"], "iri_kw": "http://purl.obolibrary.org/obo/OMIM_605407", "iri_eng": "http://purl.obolibrary.org/obo/OMIM_605407", "category_kw": ["disease"], "definition_std": ["Autosomal recessive dopa-responsive dystonia (DYT5b) is a very rare neurometabolic disorder characterized by a spectrum of symptoms ranging from those seen in dopa-responsive dystonia (DRD; see this term) to progressive infantile encephalopathy."], "id_eng": "OMIM:605407", "definition_kw": ["Autosomal recessive dopa-responsive dystonia (DYT5b) is a very rare neurometabolic disorder characterized by a spectrum of symptoms ranging from those seen in dopa-responsive dystonia (DRD; see this term) to progressive infantile encephalopathy."], "category_eng": ["disease"], "equivalent_curie_kw": ["Orphanet:101150", "UMLS:C1854299", "UMLS:C2673535", "MESH:C537537"], "label_kw": ["Autosomal recessive dopa-responsive dystonia"], "synonym": ["Tyrosine hydroxylase-deficient dopa-responsive dystonia", "Autosomal Recessive Infantile Parkinsonism", "Dopa-Responsive Dystonia, Autosomal Recessive", "DOPA responsive dystonia, autosomal recessive", "DYT5b", "Parkinsonism, Infantile, Autosomal Recessive", "Th-Deficient Drd", "Autosomal recessive Segawa syndrome", "Dystonia, Dopa-Responsive, Autosomal Recessive", "Tyrosine Hydroxylase Deficiency", "Dystonia, Dopa-Responsive, With Or Without Hyperphenylalaninemia, Autosomal Recessive", "SEGAWA SYNDROME, AUTOSOMAL RECESSIVE", "Dystonia, DOPA responsive, autosomal recessive", "Parkinsonism, infantile, autosomal recessive", "Tyrosine hydroxylase deficiency"], "score": 24.194925, "id_std": "OMIM:605407", "equivalent_curie_std": ["Orphanet:101150", "UMLS:C1854299", "UMLS:C2673535", "MESH:C537537"], "id": "OMIM:605407", "equivalent_iri": ["http://www.orpha.net/ORDO/Orphanet_101150", "http://purl.obolibrary.org/obo/UMLS_C1854299", "http://purl.obolibrary.org/obo/UMLS_C2673535", "http://purl.obolibrary.org/obo/MESH_C537537"], "iri_std": "http://purl.obolibrary.org/obo/OMIM_605407", "id_kw": "OMIM:605407", "leaf": true, "category": ["disease"], "category_std": ["disease"], "definition_eng": ["Autosomal recessive dopa-responsive dystonia (DYT5b) is a very rare neurometabolic disorder characterized by a spectrum of symptoms ranging from those seen in dopa-responsive dystonia (DRD; see this term) to progressive infantile encephalopathy."], "equivalent_curie_eng": ["Orphanet:101150", "UMLS:C1854299", "UMLS:C2673535", "MESH:C537537"], "label": ["Autosomal recessive dopa-responsive dystonia"], "label_std": ["Autosomal recessive dopa-responsive dystonia"], "definition": ["Autosomal recessive dopa-responsive dystonia (DYT5b) is a very rare neurometabolic disorder characterized by a spectrum of symptoms ranging from those seen in dopa-responsive dystonia (DRD; see this term) to progressive infantile encephalopathy."], "synonym_std": ["Tyrosine hydroxylase-deficient dopa-responsive dystonia", "Autosomal Recessive Infantile Parkinsonism", "Dopa-Responsive Dystonia, Autosomal Recessive", "DOPA responsive dystonia, autosomal recessive", "DYT5b", "Parkinsonism, Infantile, Autosomal Recessive", "Th-Deficient Drd", "Autosomal recessive Segawa syndrome", "Dystonia, Dopa-Responsive, Autosomal Recessive", "Tyrosine Hydroxylase Deficiency", "Dystonia, Dopa-Responsive, With Or Without Hyperphenylalaninemia, Autosomal Recessive", "SEGAWA SYNDROME, AUTOSOMAL RECESSIVE", "Dystonia, DOPA responsive, autosomal recessive", "Parkinsonism, infantile, autosomal recessive", "Tyrosine hydroxylase deficiency"], "equivalent_curie": ["Orphanet:101150", "UMLS:C1854299", "UMLS:C2673535", "MESH:C537537"]}, {"equivalent_iri_kw": ["http://purl.obolibrary.org/obo/UMLS_C0338451"], "synonym_eng": ["Wilhelmsen-Lynch Disease", "Frontotemporal Lobar Degeneration With Tau Inclusions", "Ftdp17", "Pick Complex", "Frontotemporal Lobe Dementia", "Ftld With Tau Inclusions", "Frontotemporal Dementia With Parkinsonism", "FRONTOTEMPORAL DEMENTIA; FTD", "Pallidopontonigral Degeneration", "FTD", "Dementia, Frontotemporal, With Parkinsonism", "Disinhibition-Dementia-Parkinsonism-Amyotrophy Complex", "Multiple System Tauopathy With Presenile Dementia"], "synonym_kw": ["Wilhelmsen-Lynch Disease", "Frontotemporal Lobar Degeneration With Tau Inclusions", "Ftdp17", "Pick Complex", "Frontotemporal Lobe Dementia", "Ftld With Tau Inclusions", "Frontotemporal Dementia With Parkinsonism", "FRONTOTEMPORAL DEMENTIA; FTD", "Pallidopontonigral Degeneration", "FTD", "Dementia, Frontotemporal, With Parkinsonism", "Disinhibition-Dementia-Parkinsonism-Amyotrophy Complex", "Multiple System Tauopathy With Presenile Dementia"], "equivalent_iri_std": ["http://purl.obolibrary.org/obo/UMLS_C0338451"], "iri": "http://purl.obolibrary.org/obo/OMIM_600274", "_version_": 1564148005536268288, "label_eng": ["Frontotemporal Dementia"], "equivalent_iri_eng": ["http://purl.obolibrary.org/obo/UMLS_C0338451"], "iri_kw": "http://purl.obolibrary.org/obo/OMIM_600274", "iri_eng": "http://purl.obolibrary.org/obo/OMIM_600274", "category_kw": ["disease"], "definition_std": ["See http://www.omim.org/entry/600274"], "id_eng": "OMIM:600274", "definition_kw": ["See http://www.omim.org/entry/600274"], "category_eng": ["disease"], "equivalent_curie_kw": ["UMLS:C0338451"], "label_kw": ["Frontotemporal Dementia"], "synonym": ["Wilhelmsen-Lynch Disease", "Frontotemporal Lobar Degeneration With Tau Inclusions", "Ftdp17", "Pick Complex", "Frontotemporal Lobe Dementia", "Ftld With Tau Inclusions", "Frontotemporal Dementia With Parkinsonism", "FRONTOTEMPORAL DEMENTIA; FTD", "Pallidopontonigral Degeneration", "FTD", "Dementia, Frontotemporal, With Parkinsonism", "Disinhibition-Dementia-Parkinsonism-Amyotrophy Complex", "Multiple System Tauopathy With Presenile Dementia"], "score": 24.194925, "id_std": "OMIM:600274", "equivalent_curie_std": ["UMLS:C0338451"], "id": "OMIM:600274", "equivalent_iri": ["http://purl.obolibrary.org/obo/UMLS_C0338451"], "iri_std": "http://purl.obolibrary.org/obo/OMIM_600274", "id_kw": "OMIM:600274", "leaf": true, "category": ["disease"], "category_std": ["disease"], "definition_eng": ["See http://www.omim.org/entry/600274"], "equivalent_curie_eng": ["UMLS:C0338451"], "label": ["Frontotemporal Dementia"], "label_std": ["Frontotemporal Dementia"], "definition": ["See http://www.omim.org/entry/600274"], "synonym_std": ["Wilhelmsen-Lynch Disease", "Frontotemporal Lobar Degeneration With Tau Inclusions", "Ftdp17", "Pick Complex", "Frontotemporal Lobe Dementia", "Ftld With Tau Inclusions", "Frontotemporal Dementia With Parkinsonism", "FRONTOTEMPORAL DEMENTIA; FTD", "Pallidopontonigral Degeneration", "FTD", "Dementia, Frontotemporal, With Parkinsonism", "Disinhibition-Dementia-Parkinsonism-Amyotrophy Complex", "Multiple System Tauopathy With Presenile Dementia"], "equivalent_curie": ["UMLS:C0338451"]}, {"iri": "http://purl.obolibrary.org/obo/HP_0001716", "label_eng": ["Wolff-Parkinson-White syndrome"], "iri_kw": "http://purl.obolibrary.org/obo/HP_0001716", "iri_eng": "http://purl.obolibrary.org/obo/HP_0001716", "category_kw": ["Phenotype"], "definition_kw": ["A disorder of the cardiac conduction system of the heart characterized by ventricular preexcitation due to the presence of an abnormal accessory atrioventricular electrical conduction pathway."], "definition_std": ["A disorder of the cardiac conduction system of the heart characterized by ventricular preexcitation due to the presence of an abnormal accessory atrioventricular electrical conduction pathway."], "id_eng": "HP:0001716", "leaf": true, "category_eng": ["Phenotype"], "label_kw": ["Wolff-Parkinson-White syndrome"], "score": 23.960114, "id_std": "HP:0001716", "id": "HP:0001716", "iri_std": "http://purl.obolibrary.org/obo/HP_0001716", "id_kw": "HP:0001716", "_version_": 1564148006375129088, "category": ["Phenotype"], "category_std": ["Phenotype"], "definition_eng": ["A disorder of the cardiac conduction system of the heart characterized by ventricular preexcitation due to the presence of an abnormal accessory atrioventricular electrical conduction pathway."], "label": ["Wolff-Parkinson-White syndrome"], "label_std": ["Wolff-Parkinson-White syndrome"], "definition": ["A disorder of the cardiac conduction system of the heart characterized by ventricular preexcitation due to the presence of an abnormal accessory atrioventricular electrical conduction pathway."]}, {"category_eng": ["disease"], "_version_": 1564148011964039169, "label_kw": ["Rare parkinsonian disorder"], "score": 23.960114, "id_std": "Orphanet:68402", "id": "Orphanet:68402", "iri": "http://www.orpha.net/ORDO/Orphanet_68402", "iri_std": "http://www.orpha.net/ORDO/Orphanet_68402", "label_eng": ["Rare parkinsonian disorder"], "id_kw": "Orphanet:68402", "leaf": false, "iri_kw": "http://www.orpha.net/ORDO/Orphanet_68402", "category": ["disease"], "iri_eng": "http://www.orpha.net/ORDO/Orphanet_68402", "category_kw": ["disease"], "label": ["Rare parkinsonian disorder"], "label_std": ["Rare parkinsonian disorder"], "id_eng": "Orphanet:68402", "category_std": ["disease"]}, {"equivalent_iri_kw": ["http://purl.obolibrary.org/obo/UMLS_CN180193", "http://purl.obolibrary.org/obo/UMLS_CN203776"], "synonym_eng": ["CLN12 disease"], "synonym_kw": ["CLN12 disease"], "iri": "http://www.orpha.net/ORDO/Orphanet_314632", "_version_": 1564147990671654912, "label_eng": ["Parkinsonism due to ATP13A2 deficiency"], "equivalent_iri_eng": ["http://purl.obolibrary.org/obo/UMLS_CN180193", "http://purl.obolibrary.org/obo/UMLS_CN203776"], "iri_kw": "http://www.orpha.net/ORDO/Orphanet_314632", "iri_eng": "http://www.orpha.net/ORDO/Orphanet_314632", "category_kw": ["disease"], "id_eng": "Orphanet:314632", "equivalent_iri_std": ["http://purl.obolibrary.org/obo/UMLS_CN180193", "http://purl.obolibrary.org/obo/UMLS_CN203776"], "category_eng": ["disease"], "equivalent_curie_kw": ["UMLS:CN180193", "UMLS:CN203776"], "label_kw": ["Parkinsonism due to ATP13A2 deficiency"], "synonym": ["CLN12 disease"], "score": 23.960114, "id_std": "Orphanet:314632", "equivalent_curie_std": ["UMLS:CN180193", "UMLS:CN203776"], "id": "Orphanet:314632", "equivalent_iri": ["http://purl.obolibrary.org/obo/UMLS_CN180193", "http://purl.obolibrary.org/obo/UMLS_CN203776"], "iri_std": "http://www.orpha.net/ORDO/Orphanet_314632", "id_kw": "Orphanet:314632", "leaf": true, "category": ["disease"], "category_std": ["disease"], "equivalent_curie_eng": ["UMLS:CN180193", "UMLS:CN203776"], "label": ["Parkinsonism due to ATP13A2 deficiency"], "label_std": ["Parkinsonism due to ATP13A2 deficiency"], "synonym_std": ["CLN12 disease"], "equivalent_curie": ["UMLS:CN180193", "UMLS:CN203776"]}, {"category_eng": ["disease"], "_version_": 1564147993132662787, "label_kw": ["juvenile-onset Parkinson disease"], "score": 23.960114, "id_std": "DOID:0060893", "id": "DOID:0060893", "iri": "http://purl.obolibrary.org/obo/DOID_0060893", "iri_std": "http://purl.obolibrary.org/obo/DOID_0060893", "label_eng": ["juvenile-onset Parkinson disease"], "id_kw": "DOID:0060893", "leaf": false, "iri_kw": "http://purl.obolibrary.org/obo/DOID_0060893", "category": ["disease"], "iri_eng": "http://purl.obolibrary.org/obo/DOID_0060893", "category_kw": ["disease"], "label": ["juvenile-onset Parkinson disease"], "label_std": ["juvenile-onset Parkinson disease"], "id_eng": "DOID:0060893", "category_std": ["disease"]}, {"category_eng": ["disease"], "_version_": 1564147993134759936, "label_kw": ["late onset Parkinson disease"], "score": 23.960114, "id_std": "DOID:0060892", "id": "DOID:0060892", "iri": "http://purl.obolibrary.org/obo/DOID_0060892", "iri_std": "http://purl.obolibrary.org/obo/DOID_0060892", "label_eng": ["late onset Parkinson disease"], "id_kw": "DOID:0060892", "leaf": false, "iri_kw": "http://purl.obolibrary.org/obo/DOID_0060892", "category": ["disease"], "iri_eng": "http://purl.obolibrary.org/obo/DOID_0060892", "category_kw": ["disease"], "label": ["late onset Parkinson disease"], "label_std": ["late onset Parkinson disease"], "id_eng": "DOID:0060892", "category_std": ["disease"]}], "highlighting": {"OMIM:118301": {"synonym_eng": ["CHARCOT-MARIE-TOOTH DISEASE WITH PTOSIS AND <em class=\"hilite\">PARKINSONISM</em>"], "label_eng": ["Charcot-Marie-Tooth Disease With Ptosis and <em class=\"hilite\">Parkinsonism</em>"]}, "DOID:14330": {"synonym_eng": ["Primary <em class=\"hilite\">Parkinsonism</em>", "Idiopathic <em class=\"hilite\">Parkinson's</em> Disease", "<em class=\"hilite\">Parkinson</em> disease", "<em class=\"hilite\">Parkinson's</em> Disease", "Lewy Body <em class=\"hilite\">Parkinson</em> Disease", "<em class=\"hilite\">Parkinson</em> Disease, Idiopathic", "<em class=\"hilite\">Parkinson's</em> Disease, Idiopathic", "<em class=\"hilite\">Parkinsonism</em>, Primary", "<em class=\"hilite\">Parkinson's</em> Disease, Lewy Body", "Idiopathic <em class=\"hilite\">Parkinson</em> Disease", "Lewy Body <em class=\"hilite\">Parkinson's</em> Disease"], "synonym_std": ["<em class=\"hilite\">Parkinson</em> disease", "Lewy Body <em class=\"hilite\">Parkinson</em> Disease", "<em class=\"hilite\">Parkinson</em> Disease, Idiopathic", "Idiopathic <em class=\"hilite\">Parkinson</em> Disease"], "label_eng": ["<em class=\"hilite\">Parkinson's</em> disease"]}, "OMIM:600274": {"synonym_eng": ["Frontotemporal Dementia With <em class=\"hilite\">Parkinsonism</em>", "Dementia, Frontotemporal, With <em class=\"hilite\">Parkinsonism</em>", "Disinhibition-Dementia-<em class=\"hilite\">Parkinsonism</em>-Amyotrophy Complex"]}, "OMIM:606693": {"synonym_eng": ["autosomal recessive <em class=\"hilite\">Parkinson</em> disease 9", "<em class=\"hilite\">Parkinson</em> disease 9", "autosomal recessive juvenile onset <em class=\"hilite\">Parkinson</em> disease 9", "<em class=\"hilite\">Parkinson</em> Disease 9, Autosomal Recessive"], "synonym_std": ["autosomal recessive <em class=\"hilite\">Parkinson</em> disease 9", "<em class=\"hilite\">Parkinson</em> disease 9", "autosomal recessive juvenile onset <em class=\"hilite\">Parkinson</em> disease 9", "<em class=\"hilite\">Parkinson</em> Disease 9, Autosomal Recessive"]}, "NCBIGene:117287": {"synonym_eng": ["<em class=\"hilite\">Parkinsonism</em> associated deglycase", "<em class=\"hilite\">Parkinson</em> disease (autosomal recessive, early onset) 7", "<em class=\"hilite\">parkinson</em> protein 7", "<em class=\"hilite\">parkinson</em> disease protein 7 homolog"], "synonym_std": ["<em class=\"hilite\">Parkinson</em> disease (autosomal recessive, early onset) 7", "<em class=\"hilite\">parkinson</em> protein 7", "<em class=\"hilite\">parkinson</em> disease protein 7 homolog"]}, "MESH:D020267": {"definition_std": [" bradykinesia (<em class=\"hilite\">PARKINSON</em> DISEASE, SECONDARY). MPTP toxicity is also used as an animal model for the study of", " <em class=\"hilite\">PARKINSON</em> DISEASE. (Adams et al., Principles of Neurology, 6th ed, p1072; Neurology 1986 Feb;36(2):250-8)"], "synonym_eng": ["<em class=\"hilite\">Parkinsonism</em>, MPTP-Induced", "MPTP-Induced <em class=\"hilite\">Parkinsonism</em>", "MPTP Induced <em class=\"hilite\">Parkinsonism</em>"], "definition_eng": [" dopaminergic neurons. Clinical features include irreversible <em class=\"hilite\">parkinsonian</em> signs including rigidity and", " bradykinesia (<em class=\"hilite\">PARKINSON</em> DISEASE, SECONDARY). MPTP toxicity is also used as an animal model for the study", " of <em class=\"hilite\">PARKINSON</em> DISEASE. (Adams et al., Principles of Neurology, 6th ed, p1072; Neurology 1986 Feb;36(2):250-8)"]}, "OMIM:605407": {"synonym_eng": ["Autosomal Recessive Infantile <em class=\"hilite\">Parkinsonism</em>", "<em class=\"hilite\">Parkinsonism</em>, Infantile, Autosomal Recessive", "<em class=\"hilite\">Parkinsonism</em>, infantile, autosomal recessive"]}, "DOID:14332": {"synonym_eng": ["<em class=\"hilite\">Parkinson</em> Disease, Post Encephalitic", "Postencephalitic Economo-Type <em class=\"hilite\">Parkinsonism</em>", "<em class=\"hilite\">Parkinson</em> Disease, Post-Encephalitic", "<em class=\"hilite\">Parkinsonisms</em>, Viral Meningoencephalitic", "<em class=\"hilite\">Parkinsonism</em>, Postencephalitic Economo-Type", "Economo-Type <em class=\"hilite\">Parkinsonism</em>, Postencephalitic", "Postencephalitic <em class=\"hilite\">Parkinson</em> Disease", "von Economo Encephalitis Type <em class=\"hilite\">Parkinsonism</em>", "<em class=\"hilite\">Parkinsonism</em>, Viral Meningoencephalitic", "Postencephalitic <em class=\"hilite\">Parkinsonism</em>", "Post-Encephalitic <em class=\"hilite\">Parkinson</em> Disease", "Post Encephalitic <em class=\"hilite\">Parkinson</em> Disease", "Meningoencephalitic <em class=\"hilite\">Parkinsonism</em>, Viral", "Postencephalitic Economo Type <em class=\"hilite\">Parkinsonism</em>", "Postencephalitic <em class=\"hilite\">parkinsonism</em>", "Postencephalitic <em class=\"hilite\">parkinsonism</em> (disorder)", "Postencephalitis <em class=\"hilite\">Parkinsonian</em> Syndrome", "<em class=\"hilite\">Parkinsonism</em>, Postencephalitic", "<em class=\"hilite\">Parkinsonian</em> Syndrome, Postencephalitis", "Viral Meningoencephalitic <em class=\"hilite\">Parkinsonism</em>", "Encephalitis Lethargica Type <em class=\"hilite\">Parkinsonism</em>"], "definition_eng": ["<em class=\"hilite\">Parkinsonism</em> following encephalitis, historically seen as a sequella of encephalitis lethargica", " primary <em class=\"hilite\">PARKINSON</em> DISEASE. Pathologic features include neuronal loss and gliosis concentrated in the"], "definition_std": [" primary <em class=\"hilite\">PARKINSON</em> DISEASE. Pathologic features include neuronal loss and gliosis concentrated in the"], "label_std": ["postencephalitic <em class=\"hilite\">Parkinson</em> disease"], "synonym_std": ["<em class=\"hilite\">Parkinson</em> Disease, Post Encephalitic", "<em class=\"hilite\">Parkinson</em> Disease, Post-Encephalitic", "Postencephalitic <em class=\"hilite\">Parkinson</em> Disease", "Post-Encephalitic <em class=\"hilite\">Parkinson</em> Disease", "Post Encephalitic <em class=\"hilite\">Parkinson</em> Disease"], "label_eng": ["postencephalitic <em class=\"hilite\">Parkinson</em> disease"]}, "NCBIGene:309110": {"synonym_eng": ["<em class=\"hilite\">Parkinson</em> disease 7 domain-containing protein 1", "<em class=\"hilite\">Parkinson</em> disease 7 domain containing 1"], "synonym_std": ["<em class=\"hilite\">Parkinson</em> disease 7 domain-containing protein 1", "<em class=\"hilite\">Parkinson</em> disease 7 domain containing 1"]}, "OMIM:168100": {"synonym_eng": ["<em class=\"hilite\">Parkinson</em> Disease, Juvenile, of Hunt", "<em class=\"hilite\">Parkinson</em> Disease, Juvenile, Of Hunt"], "synonym_std": ["<em class=\"hilite\">Parkinson</em> Disease, Juvenile, of Hunt", "<em class=\"hilite\">Parkinson</em> Disease, Juvenile, Of Hunt"]}, "NCBIGene:100010357": {"synonym_eng": ["<em class=\"hilite\">parkinson</em> protein 7"], "synonym_std": ["<em class=\"hilite\">parkinson</em> protein 7"]}, "NCBIGene:740015": {"synonym_eng": ["<em class=\"hilite\">Parkinson</em> disease 7 domain-containing protein 1"], "synonym_std": ["<em class=\"hilite\">Parkinson</em> disease 7 domain-containing protein 1"]}, "NCBIGene:100147623": {"synonym_eng": ["LOW QUALITY PROTEIN: <em class=\"hilite\">Parkinson</em> disease 7 domain-containing protein 1"], "synonym_std": ["LOW QUALITY PROTEIN: <em class=\"hilite\">Parkinson</em> disease 7 domain-containing protein 1"]}, "OMIM:607688": {"label_std": ["<em class=\"hilite\">Parkinson</em> Disease 11, Autosomal Dominant, Susceptibility to"], "synonym_eng": ["<em class=\"hilite\">PARKINSON</em> DISEASE 11, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK11"], "synonym_std": ["<em class=\"hilite\">PARKINSON</em> DISEASE 11, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK11"], "label_eng": ["<em class=\"hilite\">Parkinson</em> Disease 11, Autosomal Dominant, Susceptibility to"]}, "NCBIGene:56816": {"synonym_eng": ["<em class=\"hilite\">Parkinson</em> disease (autosomal recessive, juvenile) 2, parkin", "<em class=\"hilite\">parkinson</em> protein 2, E3 ubiquitin protein ligase"], "synonym_std": ["<em class=\"hilite\">Parkinson</em> disease (autosomal recessive, juvenile) 2, parkin", "<em class=\"hilite\">parkinson</em> protein 2, E3 ubiquitin protein ligase"]}, "NCBIGene:780404": {"synonym_eng": ["<em class=\"hilite\">Parkinson</em> disease (autosomal recessive, early onset) 7"], "synonym_std": ["<em class=\"hilite\">Parkinson</em> disease (autosomal recessive, early onset) 7"]}, "OMIM:610297": {"label_std": ["<em class=\"hilite\">Parkinson</em> Disease 13, Autosomal Dominant, Susceptibility to"], "synonym_eng": ["<em class=\"hilite\">PARKINSON</em> DISEASE 13, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK13"], "synonym_std": ["<em class=\"hilite\">PARKINSON</em> DISEASE 13, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK13"], "label_eng": ["<em class=\"hilite\">Parkinson</em> Disease 13, Autosomal Dominant, Susceptibility to"]}, "OMIM:602404": {"synonym_eng": ["<em class=\"hilite\">Parkinson</em> Disease 3, Autosomal Dominant", "<em class=\"hilite\">PARKINSON</em> DISEASE 3, AUTOSOMAL DOMINANT; PARK3", "<em class=\"hilite\">Parkinson</em> Disease 3, Autosomal Dominant Lewy Body"], "synonym_std": ["<em class=\"hilite\">Parkinson</em> Disease 3, Autosomal Dominant", "<em class=\"hilite\">PARKINSON</em> DISEASE 3, AUTOSOMAL DOMINANT; PARK3", "<em class=\"hilite\">Parkinson</em> Disease 3, Autosomal Dominant Lewy Body"]}, "NCBIGene:421577": {"synonym_eng": ["<em class=\"hilite\">Parkinson</em> disease (autosomal recessive, juvenile) 2, parkin", "<em class=\"hilite\">parkinson</em> protein 2, E3 ubiquitin protein ligase (parkin)"], "synonym_std": ["<em class=\"hilite\">Parkinson</em> disease (autosomal recessive, juvenile) 2, parkin", "<em class=\"hilite\">parkinson</em> protein 2, E3 ubiquitin protein ligase (parkin)"]}, "OMIM:600116": {"label_eng": ["autosomal recessive juvenile <em class=\"hilite\">Parkinson</em> disease 2"], "label_std": ["autosomal recessive juvenile <em class=\"hilite\">Parkinson</em> disease 2"], "synonym_eng": ["<em class=\"hilite\">Parkinsonism</em>, Early-Onset, With Diurnal Fluctuation", "<em class=\"hilite\">PARKINSON</em> DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE; PARK2", "autosomal recessive juvenile <em class=\"hilite\">Parkinson</em> disease type 2", "<em class=\"hilite\">Parkinson</em> Disease, Juvenile, Autosomal Recessive"], "synonym_std": ["<em class=\"hilite\">PARKINSON</em> DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE; PARK2", "autosomal recessive juvenile <em class=\"hilite\">Parkinson</em> disease type 2", "<em class=\"hilite\">Parkinson</em> Disease, Juvenile, Autosomal Recessive"], "definition_eng": ["A <em class=\"hilite\">Parkinson's</em> disease that has_material_basis_in mutation in the parkin gene (PARK2) on chromosome"]}, "OMIM:606324": {"label_eng": ["autosomal recessive early-onset <em class=\"hilite\">Parkinson</em> disease 7"], "label_std": ["autosomal recessive early-onset <em class=\"hilite\">Parkinson</em> disease 7"], "synonym_eng": ["autosomal recessive early-onset <em class=\"hilite\">Parkinson</em> disease type 7", "<em class=\"hilite\">PARKINSON</em> DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK7"], "synonym_std": ["autosomal recessive early-onset <em class=\"hilite\">Parkinson</em> disease type 7", "<em class=\"hilite\">PARKINSON</em> DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK7"], "definition_eng": ["A <em class=\"hilite\">Parkinson's</em> disease that has_material_basis_in homozygous or compound heterozygous mutation"]}, "NCBIGene:100148360": {"synonym_eng": ["<em class=\"hilite\">Parkinson</em> disease 7 domain-containing protein 1", "<em class=\"hilite\">Parkinson</em> disease 7 domain containing 1"], "synonym_std": ["<em class=\"hilite\">Parkinson</em> disease 7 domain-containing protein 1", "<em class=\"hilite\">Parkinson</em> disease 7 domain containing 1"]}, "OMIM:605543": {"synonym_eng": ["<em class=\"hilite\">Parkinson</em> Disease 4, Autosomal Dominant Lewy Body", "autosomal dominant <em class=\"hilite\">Parkinson</em> disease type 4", "autosomal dominant Lewy body <em class=\"hilite\">Parkinson</em> disease 4", "<em class=\"hilite\">PARKINSON</em> DISEASE 4, AUTOSOMAL DOMINANT; PARK4"], "definition_eng": ["A late onset <em class=\"hilite\">Parkinson</em> disease that has_material_basis_in heterozygous triplication of the alpha"], "definition_std": ["A late onset <em class=\"hilite\">Parkinson</em> disease that has_material_basis_in heterozygous triplication of the alpha"], "label_std": ["autosomal dominant <em class=\"hilite\">Parkinson</em> disease 4"], "synonym_std": ["<em class=\"hilite\">Parkinson</em> Disease 4, Autosomal Dominant Lewy Body", "autosomal dominant <em class=\"hilite\">Parkinson</em> disease type 4", "autosomal dominant Lewy body <em class=\"hilite\">Parkinson</em> disease 4", "<em class=\"hilite\">PARKINSON</em> DISEASE 4, AUTOSOMAL DOMINANT; PARK4"], "label_eng": ["autosomal dominant <em class=\"hilite\">Parkinson</em> disease 4"]}, "Orphanet:306686": {"synonym_eng": ["CO-induced <em class=\"hilite\">parkinsonism</em>"], "label_eng": ["Carbon monoxide-induced <em class=\"hilite\">parkinsonism</em>"]}, "OMIM:128235": {"synonym_eng": ["Rapid-onset dystonia-<em class=\"hilite\">parkinsonism</em>", "Dystonia-<em class=\"hilite\">Parkinsonism</em>, Rapid-Onset", "Rapid-Onset Dystonia <em class=\"hilite\">Parkinsonism</em>"], "definition_eng": ["Rapid-onset dystonia-<em class=\"hilite\">parkinsonism</em> (RDP) is a very rare movement disorder, characterized by the", " abrupt onset of <em class=\"hilite\">parkinsonism</em> and dystonia, often triggered by physical or psychological stress."]}, "NCBIGene:213350": {"synonym_eng": ["<em class=\"hilite\">Parkinson</em> disease 7 domain-containing protein 1", "<em class=\"hilite\">Parkinson</em> disease 7 domain containing 1"], "synonym_std": ["<em class=\"hilite\">Parkinson</em> disease 7 domain-containing protein 1", "<em class=\"hilite\">Parkinson</em> disease 7 domain containing 1"]}, "NCBIGene:479595": {"synonym_eng": ["<em class=\"hilite\">Parkinson</em> disease (autosomal recessive, early onset) 7"], "synonym_std": ["<em class=\"hilite\">Parkinson</em> disease (autosomal recessive, early onset) 7"]}, "NCBIGene:612316": {"synonym_eng": ["<em class=\"hilite\">Parkinson</em> disease (autosomal recessive, juvenile) 2, parkin", "<em class=\"hilite\">parkinson</em> protein 2, E3 ubiquitin protein ligase (parkin)"], "synonym_std": ["<em class=\"hilite\">Parkinson</em> disease (autosomal recessive, juvenile) 2, parkin", "<em class=\"hilite\">parkinson</em> protein 2, E3 ubiquitin protein ligase (parkin)"]}, "OMIM:168600": {"label_std": ["<em class=\"hilite\">Parkinson</em> Disease, Late-Onset"], "synonym_eng": ["<em class=\"hilite\">PARKINSON</em> DISEASE, LATE-ONSET; PD"], "synonym_std": ["<em class=\"hilite\">PARKINSON</em> DISEASE, LATE-ONSET; PD"], "label_eng": ["<em class=\"hilite\">Parkinson</em> Disease, Late-Onset"]}, "OMIM:125320": {"synonym_eng": ["DEMENTIA/<em class=\"hilite\">PARKINSONISM</em> WITH NON-ALZHEIMER AMYLOID PLAQUES"], "label_eng": ["Dementia/<em class=\"hilite\">Parkinsonism</em> With Non-Alzheimer Amyloid Plaques"]}, "OMIM:605909": {"label_eng": ["autosomal recessive early-onset <em class=\"hilite\">Parkinson</em> disease 6"], "label_std": ["autosomal recessive early-onset <em class=\"hilite\">Parkinson</em> disease 6"], "synonym_eng": ["<em class=\"hilite\">PARKINSON</em> DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK6", "autosomal recessive early-onset <em class=\"hilite\">Parkinson</em> disease type 6", "<em class=\"hilite\">Parkinson</em> Disease, Autosomal Recessive Early-Onset, Digenic, Pink1/Dj1", "early-onset <em class=\"hilite\">Parkinson</em> disease 6", "<em class=\"hilite\">Parkinson</em> Disease, Autosomal Recessive Early-Onset, Digenic, Pink1-Dj1", "<em class=\"hilite\">Parkinson</em> Disease 6, Late-Onset, Susceptibility to", "<em class=\"hilite\">Parkinson</em> Disease 6, Early-Onset"], "synonym_std": ["<em class=\"hilite\">PARKINSON</em> DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK6", "autosomal recessive early-onset <em class=\"hilite\">Parkinson</em> disease type 6", "<em class=\"hilite\">Parkinson</em> Disease, Autosomal Recessive Early-Onset, Digenic, Pink1/Dj1", "early-onset <em class=\"hilite\">Parkinson</em> disease 6", "<em class=\"hilite\">Parkinson</em> Disease, Autosomal Recessive Early-Onset, Digenic, Pink1-Dj1", "<em class=\"hilite\">Parkinson</em> Disease 6, Late-Onset, Susceptibility to", "<em class=\"hilite\">Parkinson</em> Disease 6, Early-Onset"], "definition_eng": ["A <em class=\"hilite\">Parkinson's</em> disease that has_material_basis_in mutations in the PINK1 gene on chromosome 1p36.12."]}, "NCBIGene:100057832": {"synonym_eng": ["<em class=\"hilite\">Parkinson</em> disease (autosomal recessive, juvenile) 2, parkin", "<em class=\"hilite\">parkinson</em> protein 2, E3 ubiquitin protein ligase (parkin)"], "synonym_std": ["<em class=\"hilite\">Parkinson</em> disease (autosomal recessive, juvenile) 2, parkin", "<em class=\"hilite\">parkinson</em> protein 2, E3 ubiquitin protein ligase (parkin)"]}, "OMIM:260300": {"label_eng": ["autosomal recessive early-onset <em class=\"hilite\">Parkinson</em> disease 15"], "label_std": ["autosomal recessive early-onset <em class=\"hilite\">Parkinson</em> disease 15"], "synonym_eng": ["<em class=\"hilite\">PARKINSON</em> DISEASE 15, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK15", "<em class=\"hilite\">Parkinsonian</em>-Pyramidal Syndrome", "<em class=\"hilite\">Parkinsonian</em>-pyramidal syndrome", "<em class=\"hilite\">Parkinson</em> Disease 15, Autosomal Recessive", "autosomal recessive early-onset <em class=\"hilite\">Parkinson</em> disease type 15"], "synonym_std": ["<em class=\"hilite\">PARKINSON</em> DISEASE 15, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK15", "<em class=\"hilite\">Parkinson</em> Disease 15, Autosomal Recessive", "autosomal recessive early-onset <em class=\"hilite\">Parkinson</em> disease type 15"], "definition_eng": ["A <em class=\"hilite\">Parkinson's</em> disease that has_material_basis_in mutation in the FBXO7 gene on chromosome 22q12.3."]}, "NCBIGene:100552437": {"synonym_eng": ["<em class=\"hilite\">Parkinson</em> disease 7 domain-containing protein 1"], "synonym_std": ["<em class=\"hilite\">Parkinson</em> disease 7 domain-containing protein 1"]}, "MESH:D020734": {"label_eng": ["<em class=\"hilite\">Parkinsonian</em> Disorders"], "definition_std": [" parkinsonism (see <em class=\"hilite\">PARKINSON</em> DISEASE), secondary parkinsonism (see <em class=\"hilite\">PARKINSON</em> DISEASE, SECONDARY) and inherited"], "synonym_eng": ["Juvenile <em class=\"hilite\">Parkinson</em> Disease, Autosomal Recessive", "Autosomal Recesssive Juvenile <em class=\"hilite\">Parkinsonism</em>", "Juvenile <em class=\"hilite\">Parkinson</em> Disease", "<em class=\"hilite\">Parkinson</em> Disease, Familial, Autosomal Recessive", "<em class=\"hilite\">Parkinsonism</em>, Autosomal Recessive", "<em class=\"hilite\">Parkinsonism</em>, Early Onset, with Diurnal Fluctuation", "<em class=\"hilite\">Parkinson</em> Disease, Juvenile", "<em class=\"hilite\">Parkinsonism</em>, Juvenile, Autosomal Recessive", "Experimental <em class=\"hilite\">Parkinsonism</em>, MPTP Induced", "<em class=\"hilite\">Parkinson</em> Disease 2", "Experimental <em class=\"hilite\">Parkinson</em> Diseases", "Chromosome 6 Linked Autosomal Recessive <em class=\"hilite\">Parkinsonism</em>", "<em class=\"hilite\">Parkinsonian</em> Diseases", "Juvenile <em class=\"hilite\">Parkinson</em> Disease, Autosomal Dominant", "Autosomal Dominant <em class=\"hilite\">Parkinsonism</em>", "<em class=\"hilite\">Parkinson</em> Disease, Experimental", "Diseases, Experimental <em class=\"hilite\">Parkinson</em>", "Juvenile <em class=\"hilite\">Parkinsonism</em>, Familial", "<em class=\"hilite\">Parkinsonism</em>, Juvenile, Autosomal Dominant", "<em class=\"hilite\">Parkinson</em> Disease, Autosomal Dominant. Juvenile", "<em class=\"hilite\">Parkinsonian</em> Syndromes", "<em class=\"hilite\">Parkinson</em> Diseases, Experimental", "Autosomal Recessive <em class=\"hilite\">Parkinsonism</em>", "Juvenile <em class=\"hilite\">Parkinsonism</em>, Autosomal Recessive", "<em class=\"hilite\">Parkinson</em> Disease, Juvenile, Autosomal Dominant", "<em class=\"hilite\">Parkinsonism</em>, Early-Onset, With Diurnal Fluctuation", "<em class=\"hilite\">Parkinson</em> Disease 2, Autosomal Recessive Juvenile", "<em class=\"hilite\">Parkinsonisms</em>, Experimental", "<em class=\"hilite\">Parkinson</em> Disease Autosomal Recessive, Early Onset", "<em class=\"hilite\">Parkinsonism</em>, Juvenile", "Autosomal Dominant Juvenile <em class=\"hilite\">Parkinsonism</em>", "Familial Juvenile <em class=\"hilite\">Parkinsonism</em>", "Juvenile <em class=\"hilite\">Parkinsonisms</em>", "Dominant <em class=\"hilite\">Parkinsonism</em>, Autosomal", "<em class=\"hilite\">Parkinson</em> Disease, Juvenile, Autosomal Recessive", "<em class=\"hilite\">Parkinsonism</em>, MPTP-Induced Experimental", "Chromosome 6-Linked Autosomal Recessive <em class=\"hilite\">Parkinsonism</em>", "Juvenile <em class=\"hilite\">Parkinsonism</em>, Autosomal Dominant", "<em class=\"hilite\">Parkinsonism</em>, Familial Juvenile", "MPTP Induced Experimental <em class=\"hilite\">Parkinsonism</em>", "<em class=\"hilite\">Parkinsonism</em>, Autosomal Dominant", "Familial <em class=\"hilite\">Parkinson</em> Disease, Autosomal Recessive", "<em class=\"hilite\">Parkinsonism</em>, Experimental", "Experimental <em class=\"hilite\">Parkinsonism</em>, MPTP-Induced", "Experimental <em class=\"hilite\">Parkinson</em> Disease", "<em class=\"hilite\">Parkinsonian</em> Syndrome", "Recessive <em class=\"hilite\">Parkinsonism</em>, Autosomal", "Juvenile <em class=\"hilite\">Parkinsonism</em>", "Experimental <em class=\"hilite\">Parkinsonism</em>", "Autosomal Dominant Juvenile <em class=\"hilite\">Parkinson</em> Disease", "<em class=\"hilite\">Parkinsonism</em>", "<em class=\"hilite\">Parkinsonisms</em>, Juvenile", "Experimental <em class=\"hilite\">Parkinsonisms</em>", "MPTP-Induced Experimental <em class=\"hilite\">Parkinsonism</em>", "Autosomal Recessive Juvenile <em class=\"hilite\">Parkinson</em> Disease"], "synonym_std": ["Juvenile <em class=\"hilite\">Parkinson</em> Disease, Autosomal Recessive", "Juvenile <em class=\"hilite\">Parkinson</em> Disease", "<em class=\"hilite\">Parkinson</em> Disease, Familial, Autosomal Recessive", "<em class=\"hilite\">Parkinson</em> Disease, Juvenile", "<em class=\"hilite\">Parkinson</em> Disease 2", "Experimental <em class=\"hilite\">Parkinson</em> Diseases", "Juvenile <em class=\"hilite\">Parkinson</em> Disease, Autosomal Dominant", "<em class=\"hilite\">Parkinson</em> Disease, Experimental", "Diseases, Experimental <em class=\"hilite\">Parkinson</em>", "<em class=\"hilite\">Parkinson</em> Disease, Autosomal Dominant. Juvenile", "<em class=\"hilite\">Parkinson</em> Diseases, Experimental", "<em class=\"hilite\">Parkinson</em> Disease, Juvenile, Autosomal Dominant", "<em class=\"hilite\">Parkinson</em> Disease 2, Autosomal Recessive Juvenile", "<em class=\"hilite\">Parkinson</em> Disease Autosomal Recessive, Early Onset", "<em class=\"hilite\">Parkinson</em> Disease, Juvenile, Autosomal Recessive", "Familial <em class=\"hilite\">Parkinson</em> Disease, Autosomal Recessive", "Experimental <em class=\"hilite\">Parkinson</em> Disease", "Autosomal Dominant Juvenile <em class=\"hilite\">Parkinson</em> Disease", "Autosomal Recessive Juvenile <em class=\"hilite\">Parkinson</em> Disease"], "definition_eng": [" RIGIDITY; TREMOR; and postural instability. <em class=\"hilite\">Parkinsonian</em> diseases are generally divided into primary", " <em class=\"hilite\">parkinsonism</em> (see <em class=\"hilite\">PARKINSON</em> DISEASE), secondary <em class=\"hilite\">parkinsonism</em> (see <em class=\"hilite\">PARKINSON</em> DISEASE, SECONDARY) and inherited"]}, "NCBIGene:100073498": {"synonym_eng": ["<em class=\"hilite\">parkinson</em> protein 7"], "synonym_std": ["<em class=\"hilite\">parkinson</em> protein 7"]}, "NCBIGene:511268": {"synonym_eng": ["<em class=\"hilite\">Parkinson</em> disease (autosomal recessive, early onset) 7", "<em class=\"hilite\">parkinson</em> disease protein 7 homolog"], "synonym_std": ["<em class=\"hilite\">Parkinson</em> disease (autosomal recessive, early onset) 7", "<em class=\"hilite\">parkinson</em> disease protein 7 homolog"]}, "NCBIGene:100030192": {"synonym_eng": ["<em class=\"hilite\">Parkinson</em> disease 7 domain-containing protein 1"], "synonym_std": ["<em class=\"hilite\">Parkinson</em> disease 7 domain-containing protein 1"]}, "MESH:C566823": {"label_std": ["<em class=\"hilite\">Parkinson</em> Disease, Familial, Type 1"], "synonym_eng": ["Lewy Body <em class=\"hilite\">Parkinsonism</em>", "<em class=\"hilite\">Parkinson</em> Disease, Autosomal Dominant", "Atypical <em class=\"hilite\">Parkinson</em> Disease"], "synonym_std": ["<em class=\"hilite\">Parkinson</em> Disease, Autosomal Dominant", "Atypical <em class=\"hilite\">Parkinson</em> Disease"], "label_eng": ["<em class=\"hilite\">Parkinson</em> Disease, Familial, Type 1"]}, "OMIM:314250": {"synonym_eng": ["X-Linked Dystonia-<em class=\"hilite\">Parkinsonism</em> Syndrome", "Torsion Dystonia-<em class=\"hilite\">Parkinsonism</em>, Filipino Type", "X-Linked Torsion Dystonia-<em class=\"hilite\">Parkinsonism</em> Syndrome", "Dystonia-<em class=\"hilite\">Parkinsonism</em>, X-Linked", "X-Linked Dystonia-<em class=\"hilite\">Parkinsonism</em>"], "label_eng": ["X-linked dystonia-<em class=\"hilite\">parkinsonism</em>"], "definition_eng": ["X-linked dystonia-<em class=\"hilite\">parkinsonism</em> (XDP) is a neurodegenerative movement disorder characterized", " by adult-onset <em class=\"hilite\">parkinsonism</em> that is frequently accompanied by focal dystonia, which becomes generalized"]}, "OMIM:616361": {"label_std": ["<em class=\"hilite\">Parkinson</em> Disease 21"], "synonym_eng": ["<em class=\"hilite\">PARKINSON</em> DISEASE 21; PARK21", "<em class=\"hilite\">Parkinson</em> Disease type 21"], "synonym_std": ["<em class=\"hilite\">PARKINSON</em> DISEASE 21; PARK21", "<em class=\"hilite\">Parkinson</em> Disease type 21"], "label_eng": ["<em class=\"hilite\">Parkinson</em> Disease 21"]}, "NCBIGene:746063": {"synonym_eng": ["<em class=\"hilite\">Parkinsonism</em> associated deglycase", "<em class=\"hilite\">Parkinson</em> disease (autosomal recessive, early onset) 7", "<em class=\"hilite\">parkinson</em> protein 7"], "synonym_std": ["<em class=\"hilite\">Parkinson</em> disease (autosomal recessive, early onset) 7", "<em class=\"hilite\">parkinson</em> protein 7"]}, "DOID:13548": {"synonym_eng": ["Symptomatic <em class=\"hilite\">Parkinsonism</em>", "<em class=\"hilite\">Parkinsonism</em>, Atherosclerotic", "secondary <em class=\"hilite\">parkinsonism</em>, unspecified", "secondary <em class=\"hilite\">Parkinsonism</em>", "<em class=\"hilite\">Parkinson</em> Disease, Symptomatic", "<em class=\"hilite\">Parkinson</em> Disease, Secondary Vascular", "Secondary Vascular <em class=\"hilite\">Parkinson</em> Disease", "disorder presenting primarily with <em class=\"hilite\">parkinsonism</em>", "secondary <em class=\"hilite\">parkinsonism</em> (disorder)", "Symptomatic <em class=\"hilite\">Parkinson</em> Disease", "<em class=\"hilite\">Parkinsonism</em>, Symptomatic", "Symptomatic <em class=\"hilite\">parkinsonism</em> (disorder)", "Secondary <em class=\"hilite\">Parkinsonism</em>", "Atherosclerotic <em class=\"hilite\">Parkinsonism</em>", "secondary <em class=\"hilite\">parkinsonism</em> (disorder) [Ambiguous]", "Secondary <em class=\"hilite\">Parkinson</em> Disease", "secondary <em class=\"hilite\">parkinsonism</em>, unspecified (disorder)", "<em class=\"hilite\">Parkinsonism</em>, Secondary"], "definition_eng": ["Conditions which feature clinical manifestations resembling primary <em class=\"hilite\">Parkinson</em> disease that are", " caused by a known or suspected condition. Examples include <em class=\"hilite\">parkinsonism</em> caused by vascular injury, drugs", " features may include bradykinesia, rigidity, <em class=\"hilite\">parkinsonian</em> gait, and masked facies. In general, tremor", " is less prominent in secondary <em class=\"hilite\">parkinsonism</em> than in the primary form. (From Joynt, Clinical Neurology"], "definition_std": ["Conditions which feature clinical manifestations resembling primary <em class=\"hilite\">Parkinson</em> disease that are"], "label_std": ["secondary <em class=\"hilite\">Parkinson</em> disease"], "synonym_std": ["<em class=\"hilite\">Parkinson</em> Disease, Symptomatic", "<em class=\"hilite\">Parkinson</em> Disease, Secondary Vascular", "Secondary Vascular <em class=\"hilite\">Parkinson</em> Disease", "Symptomatic <em class=\"hilite\">Parkinson</em> Disease", "Secondary <em class=\"hilite\">Parkinson</em> Disease"], "label_eng": ["secondary <em class=\"hilite\">Parkinson</em> disease"]}, "HP:0001716": {"label_std": ["Wolff-<em class=\"hilite\">Parkinson</em>-White syndrome"], "label_eng": ["Wolff-<em class=\"hilite\">Parkinson</em>-White syndrome"]}, "DOID:9255": {"synonym_eng": ["Frontotemporal Dementia with <em class=\"hilite\">Parkinsonism</em>-17", "Complices, Disinhibition-Dementia-<em class=\"hilite\">Parkinsonism</em>-Amyotrophy", "Disinhibition-Dementia-<em class=\"hilite\">Parkinsonism</em>-Amytrophy Complex", "Frontotemporal Dementia with <em class=\"hilite\">Parkinsonism</em> 17", "Complices, Disinhibition-Dementia-<em class=\"hilite\">Parkinsonism</em>-Amytrophy", "Complex, Disinhibition-Dementia-<em class=\"hilite\">Parkinsonism</em>-Amytrophy", "Disinhibition-Dementia-<em class=\"hilite\">Parkinsonism</em>-Amyotrophy Complex", "Frontotemporal Dementia with <em class=\"hilite\">Parkinsonism</em>", "Disinhibition-Dementia-<em class=\"hilite\">Parkinsonism</em>-Amytrophy Complices", "Disinhibition-Dementia-<em class=\"hilite\">Parkinsonism</em>-Amyotrophy Complices", "Disinhibition Dementia <em class=\"hilite\">Parkinsonism</em> Amyotrophy Complex", "Dementia, Frontotemporal, with <em class=\"hilite\">Parkinsonism</em>", "Disinhibition Dementia <em class=\"hilite\">Parkinsonism</em> Amytrophy Complex", "Complex, Disinhibition-Dementia-<em class=\"hilite\">Parkinsonism</em>-Amyotrophy"]}, "NCBIGene:733673": {"synonym_eng": ["<em class=\"hilite\">Parkinson</em> disease (autosomal recessive, juvenile) 2, parkin", "<em class=\"hilite\">parkinson</em> protein 2, E3 ubiquitin protein ligase (parkin)"], "synonym_std": ["<em class=\"hilite\">Parkinson</em> disease (autosomal recessive, juvenile) 2, parkin", "<em class=\"hilite\">parkinson</em> protein 2, E3 ubiquitin protein ligase (parkin)"]}, "OMIM:612953": {"label_eng": ["autosomal recessive <em class=\"hilite\">Parkinson</em> disease 14"], "label_std": ["autosomal recessive <em class=\"hilite\">Parkinson</em> disease 14"], "synonym_eng": ["autosomal recessive <em class=\"hilite\">Parkinson</em> disease type 14", "PLA2G6-related dystonia-<em class=\"hilite\">parkinsonism</em>", "<em class=\"hilite\">PARKINSON</em> DISEASE 14, AUTOSOMAL RECESSIVE; PARK14", "Dystonia-<em class=\"hilite\">parkinsonism</em>, Paisan-Ruiz type", "Dystonia-<em class=\"hilite\">Parkinsonism</em>, Adult-Onset"], "synonym_std": ["autosomal recessive <em class=\"hilite\">Parkinson</em> disease type 14", "<em class=\"hilite\">PARKINSON</em> DISEASE 14, AUTOSOMAL RECESSIVE; PARK14"], "definition_eng": ["Adult-onset dystonia-<em class=\"hilite\">parkinsonism</em> is a rare neurodegenerative disease usually presenting before the", " age of 30 and which is characterized by dystonia, L-dopa-responsive <em class=\"hilite\">parkinsonism</em>, pyramidal signs and"]}, "NCBIGene:100911365": {"synonym_eng": ["<em class=\"hilite\">Parkinson</em> disease 7 domain-containing protein 1", "<em class=\"hilite\">Parkinson</em> disease 7 domain-containing protein 1-like"], "synonym_std": ["<em class=\"hilite\">Parkinson</em> disease 7 domain-containing protein 1", "<em class=\"hilite\">Parkinson</em> disease 7 domain-containing protein 1-like"]}, "OMIM:606852": {"synonym_eng": ["<em class=\"hilite\">Parkinson</em> Disease, Age at Onset of", "<em class=\"hilite\">PARKINSON</em> DISEASE 10; PARK10", "<em class=\"hilite\">Parkinson</em> Disease type 10", "<em class=\"hilite\">Parkinson</em> Disease, Age At Onset Of"], "synonym_std": ["<em class=\"hilite\">Parkinson</em> Disease, Age at Onset of", "<em class=\"hilite\">PARKINSON</em> DISEASE 10; PARK10", "<em class=\"hilite\">Parkinson</em> Disease type 10", "<em class=\"hilite\">Parkinson</em> Disease, Age At Onset Of"]}, "OMIM:614203": {"synonym_eng": ["<em class=\"hilite\">Parkinson</em> Disease type 17", "autosomal dominant <em class=\"hilite\">Parkinson</em> disease 17", "<em class=\"hilite\">Parkinson</em> disease type 17", "<em class=\"hilite\">PARKINSON</em> DISEASE 17; PARK17"], "definition_eng": ["A late-onset <em class=\"hilite\">Parkinson</em> disease that has_material_basis_in heterozygous mutation in the VPS35 gene"], "definition_std": ["A late-onset <em class=\"hilite\">Parkinson</em> disease that has_material_basis_in heterozygous mutation in the VPS35 gene"], "label_std": ["<em class=\"hilite\">Parkinson</em> disease 17"], "synonym_std": ["<em class=\"hilite\">Parkinson</em> Disease type 17", "autosomal dominant <em class=\"hilite\">Parkinson</em> disease 17", "<em class=\"hilite\">Parkinson</em> disease type 17", "<em class=\"hilite\">PARKINSON</em> DISEASE 17; PARK17"], "label_eng": ["<em class=\"hilite\">Parkinson</em> disease 17"]}, "MESH:C537176": {"label_std": ["<em class=\"hilite\">Parkinson</em> disease 3"], "synonym_eng": ["<em class=\"hilite\">Parkinson</em> disease type 3"], "synonym_std": ["<em class=\"hilite\">Parkinson</em> disease type 3"], "label_eng": ["<em class=\"hilite\">Parkinson</em> disease 3"]}, "NCBIGene:5071": {"synonym_eng": ["<em class=\"hilite\">Parkinson</em> disease (autosomal recessive, juvenile) 2, parkin", "<em class=\"hilite\">parkinson</em> protein 2, E3 ubiquitin protein ligase (parkin)", "<em class=\"hilite\">parkinson</em> juvenile disease protein 2", "<em class=\"hilite\">parkinson</em> protein 2 E3 ubiquitin protein ligase"], "synonym_std": ["<em class=\"hilite\">Parkinson</em> disease (autosomal recessive, juvenile) 2, parkin", "<em class=\"hilite\">parkinson</em> protein 2, E3 ubiquitin protein ligase (parkin)", "<em class=\"hilite\">parkinson</em> juvenile disease protein 2", "<em class=\"hilite\">parkinson</em> protein 2 E3 ubiquitin protein ligase"]}, "Orphanet:314632": {"label_eng": ["<em class=\"hilite\">Parkinsonism</em> due to ATP13A2 deficiency"]}, "NCBIGene:395277": {"synonym_eng": ["<em class=\"hilite\">Parkinson</em> disease (autosomal recessive, early onset) 7", "<em class=\"hilite\">parkinson</em> disease protein 7 homolog", "<em class=\"hilite\">Parkinson</em> disease 7"], "synonym_std": ["<em class=\"hilite\">Parkinson</em> disease (autosomal recessive, early onset) 7", "<em class=\"hilite\">parkinson</em> disease protein 7 homolog", "<em class=\"hilite\">Parkinson</em> disease 7"]}, "OMIM:613164": {"synonym_eng": ["<em class=\"hilite\">Parkinson</em> Disease type 16", "<em class=\"hilite\">PARKINSON</em> DISEASE 16; PARK16"], "synonym_std": ["<em class=\"hilite\">Parkinson</em> Disease type 16", "<em class=\"hilite\">PARKINSON</em> DISEASE 16; PARK16"]}, "DOID:0060893": {"label_std": ["juvenile-onset <em class=\"hilite\">Parkinson</em> disease"], "label_eng": ["juvenile-onset <em class=\"hilite\">Parkinson</em> disease"]}, "OMIM:300557": {"synonym_eng": ["<em class=\"hilite\">Parkinson</em> Disease, X-Linked", "<em class=\"hilite\">Parkinson</em> Disease type 12", "<em class=\"hilite\">PARKINSON</em> DISEASE 12; PARK12"], "synonym_std": ["<em class=\"hilite\">Parkinson</em> Disease, X-Linked", "<em class=\"hilite\">Parkinson</em> Disease type 12", "<em class=\"hilite\">PARKINSON</em> DISEASE 12; PARK12"]}, "OMIM:168601": {"label_eng": ["autosomal dominant <em class=\"hilite\">Parkinson</em> disease 1"], "label_std": ["autosomal dominant <em class=\"hilite\">Parkinson</em> disease 1"], "synonym_eng": ["autosomal dominant <em class=\"hilite\">Parkinson</em> disease type 1", "<em class=\"hilite\">Parkinson</em> Disease 1, Autosomal Dominant Lewy Body", "<em class=\"hilite\">PARKINSON</em> DISEASE 1, AUTOSOMAL DOMINANT; PARK1", "Atypical <em class=\"hilite\">Parkinson</em> Disease"], "synonym_std": ["autosomal dominant <em class=\"hilite\">Parkinson</em> disease type 1", "<em class=\"hilite\">Parkinson</em> Disease 1, Autosomal Dominant Lewy Body", "<em class=\"hilite\">PARKINSON</em> DISEASE 1, AUTOSOMAL DOMINANT; PARK1", "Atypical <em class=\"hilite\">Parkinson</em> Disease"], "definition_eng": ["A <em class=\"hilite\">Parkinson's</em> disease that has_material_basis_in mutation in the alpha-synuclein (SNCA) gene"]}, "Orphanet:411602": {"synonym_eng": ["Autosomal dominant late-onset <em class=\"hilite\">Parkinson</em> disease"], "definition_eng": ["Hereditary late-onset <em class=\"hilite\">Parkinson</em> disease (LOPD) is a form of <em class=\"hilite\">Parkinson</em> disease (PD), characterized"], "definition_std": ["Hereditary late-onset <em class=\"hilite\">Parkinson</em> disease (LOPD) is a form of <em class=\"hilite\">Parkinson</em> disease (PD), characterized"], "label_std": ["Hereditary late-onset <em class=\"hilite\">Parkinson</em> disease"], "synonym_std": ["Autosomal dominant late-onset <em class=\"hilite\">Parkinson</em> disease"], "label_eng": ["Hereditary late-onset <em class=\"hilite\">Parkinson</em> disease"]}, "OMIM:556500": {"label_std": ["<em class=\"hilite\">Parkinson</em> Disease, Mitochondrial"], "synonym_eng": ["<em class=\"hilite\">PARKINSON</em> DISEASE, MITOCHONDRIAL"], "synonym_std": ["<em class=\"hilite\">PARKINSON</em> DISEASE, MITOCHONDRIAL"], "label_eng": ["<em class=\"hilite\">Parkinson</em> Disease, Mitochondrial"]}, "OMIM:105500": {"synonym_eng": ["Amyotrophic lateral sclerosis-<em class=\"hilite\">parkinsonism</em>-dementia of Guam syndrome", "Amyotrophic Lateral Sclerosis-<em class=\"hilite\">Parkinsonism</em>/Dementia Complex of Guam", "Amyotrophic Lateral Sclerosis-<em class=\"hilite\">Parkinsonism</em>/Dementia Complex type 1", "AMYOTROPHIC LATERAL SCLEROSIS-<em class=\"hilite\">PARKINSONISM</em>/DEMENTIA COMPLEX 1", "<em class=\"hilite\">Parkinsonism</em>-dementia-ALS complex"], "label_eng": ["Amyotrophic lateral sclerosis-<em class=\"hilite\">parkinsonism</em>-dementia complex"]}, "NCBIGene:101082778": {"synonym_eng": ["<em class=\"hilite\">Parkinson</em> disease 7 domain-containing protein 1"], "synonym_std": ["<em class=\"hilite\">Parkinson</em> disease 7 domain-containing protein 1"]}, "NCBIGene:57320": {"synonym_eng": ["<em class=\"hilite\">Parkinson</em> disease (autosomal recessive, early onset) 7", "<em class=\"hilite\">parkinson</em> disease protein 7 homolog"], "synonym_std": ["<em class=\"hilite\">Parkinson</em> disease (autosomal recessive, early onset) 7", "<em class=\"hilite\">parkinson</em> disease protein 7 homolog"]}, "NCBIGene:100486045": {"synonym_eng": ["<em class=\"hilite\">Parkinson</em> disease 7 domain-containing protein 1", "<em class=\"hilite\">Parkinson</em> disease 7 domain containing 1"], "synonym_std": ["<em class=\"hilite\">Parkinson</em> disease 7 domain-containing protein 1", "<em class=\"hilite\">Parkinson</em> disease 7 domain containing 1"]}, "NCBIGene:741350": {"synonym_eng": ["<em class=\"hilite\">Parkinson</em> disease (autosomal recessive, juvenile) 2, parkin", "<em class=\"hilite\">parkinson</em> protein 2, E3 ubiquitin protein ligase (parkin)"], "synonym_std": ["<em class=\"hilite\">Parkinson</em> disease (autosomal recessive, juvenile) 2, parkin", "<em class=\"hilite\">parkinson</em> protein 2, E3 ubiquitin protein ligase (parkin)"]}, "OMIM:607060": {"label_eng": ["autosomal dominant <em class=\"hilite\">Parkinson</em> disease 8"], "label_std": ["autosomal dominant <em class=\"hilite\">Parkinson</em> disease 8"], "synonym_eng": ["<em class=\"hilite\">PARKINSON</em> DISEASE 8, AUTOSOMAL DOMINANT; PARK8", "autosomal dominant <em class=\"hilite\">Parkinson</em> disease type 8"], "synonym_std": ["<em class=\"hilite\">PARKINSON</em> DISEASE 8, AUTOSOMAL DOMINANT; PARK8", "autosomal dominant <em class=\"hilite\">Parkinson</em> disease type 8"], "definition_eng": ["A <em class=\"hilite\">Parkinson's</em> disease that has_material_basis_in heterozygous mutation in the dardarin encoding"]}, "MESH:C566017": {"label_std": ["<em class=\"hilite\">Parkinson</em> Disease 5"], "synonym_eng": ["<em class=\"hilite\">Parkinson</em> Disease type 5"], "synonym_std": ["<em class=\"hilite\">Parkinson</em> Disease type 5"], "label_eng": ["<em class=\"hilite\">Parkinson</em> Disease 5"]}, "OMIM:616710": {"label_std": ["<em class=\"hilite\">Parkinson</em> Disease 22, Autosomal Dominant; PARK22"], "synonym_eng": ["<em class=\"hilite\">Parkinson</em> Disease 22, Autosomal Dominant"], "synonym_std": ["<em class=\"hilite\">Parkinson</em> Disease 22, Autosomal Dominant"], "label_eng": ["<em class=\"hilite\">Parkinson</em> Disease 22, Autosomal Dominant; PARK22"]}, "OMIM:614251": {"label_std": ["<em class=\"hilite\">Parkinson</em> Disease 18, Autosomal Dominant, Susceptibility to"], "synonym_eng": ["<em class=\"hilite\">PARKINSON</em> DISEASE 18, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK18"], "synonym_std": ["<em class=\"hilite\">PARKINSON</em> DISEASE 18, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK18"], "label_eng": ["<em class=\"hilite\">Parkinson</em> Disease 18, Autosomal Dominant, Susceptibility to"]}, "NCBIGene:100551640": {"synonym_eng": ["<em class=\"hilite\">parkinson</em> protein 7"], "synonym_std": ["<em class=\"hilite\">parkinson</em> protein 7"]}, "HP:0001300": {"synonym_eng": ["<em class=\"hilite\">Parkinsonian</em> disease"], "label_eng": ["<em class=\"hilite\">Parkinsonism</em>"]}, "OMIM:613135": {"synonym_eng": ["<em class=\"hilite\">PARKINSONISM</em>-DYSTONIA, INFANTILE; PKDYS"], "label_eng": ["Infantile dystonia-<em class=\"hilite\">parkinsonism</em>"], "definition_eng": ["Infantile dystonia-<em class=\"hilite\">parkinsonism</em> (IPD) is an extremely rare inherited neurological syndrome that", " presents in early infancy with hypokinetic <em class=\"hilite\">parkinsonism</em> and dystonia and that can be fatal."]}, "Orphanet:98933": {"synonym_eng": ["MSA, <em class=\"hilite\">parkinsonian</em> type"], "label_eng": ["Multiple system atrophy, <em class=\"hilite\">parkinsonian</em> type"], "definition_eng": ["Multiple system atrophy, <em class=\"hilite\">parkinsonian</em> type (MSA-p) is a form of multiple system atrophy (MSA; see", " this term) with predominant <em class=\"hilite\">parkinsonian</em> features (bradykinesia, rigidity, irregular jerky postural"]}, "OMIM:194200": {"label_std": ["Wolff-<em class=\"hilite\">Parkinson</em>-White syndrome"], "synonym_eng": ["Syndrome, Wolf-<em class=\"hilite\">Parkinson</em>-White", "Wolff <em class=\"hilite\">Parkinson</em> White Syndrome", "WOLFF-<em class=\"hilite\">PARKINSON</em>-WHITE SYNDROME", "Wolff-<em class=\"hilite\">Parkinson</em>-White pattern (finding)", "Syndrome, Wolff-<em class=\"hilite\">Parkinson</em>-White", "Wolf <em class=\"hilite\">Parkinson</em> White Syndrome", "Wolf-<em class=\"hilite\">Parkinson</em>-White Syndrome"], "synonym_std": ["Syndrome, Wolf-<em class=\"hilite\">Parkinson</em>-White", "Wolff <em class=\"hilite\">Parkinson</em> White Syndrome", "WOLFF-<em class=\"hilite\">PARKINSON</em>-WHITE SYNDROME", "Wolff-<em class=\"hilite\">Parkinson</em>-White pattern (finding)", "Syndrome, Wolff-<em class=\"hilite\">Parkinson</em>-White", "Wolf <em class=\"hilite\">Parkinson</em> White Syndrome", "Wolf-<em class=\"hilite\">Parkinson</em>-White Syndrome"], "label_eng": ["Wolff-<em class=\"hilite\">Parkinson</em>-White syndrome"]}, "OMIM:615530": {"synonym_eng": ["early-onset <em class=\"hilite\">Parkinson</em> disease type 20", "<em class=\"hilite\">PARKINSON</em> DISEASE 20, EARLY-ONSET; PARK20"], "definition_eng": ["An early-onset <em class=\"hilite\">Parkinson</em> disease that has_material_basis_in homozygous mutation in the SYNJ1 gene"], "definition_std": ["An early-onset <em class=\"hilite\">Parkinson</em> disease that has_material_basis_in homozygous mutation in the SYNJ1 gene"], "label_std": ["early-onset <em class=\"hilite\">Parkinson</em> disease 20"], "synonym_std": ["early-onset <em class=\"hilite\">Parkinson</em> disease type 20", "<em class=\"hilite\">PARKINSON</em> DISEASE 20, EARLY-ONSET; PARK20"], "label_eng": ["early-onset <em class=\"hilite\">Parkinson</em> disease 20"]}, "OMIM:615528": {"label_eng": ["juvenile onset <em class=\"hilite\">Parkinson</em> disease 19A"], "label_std": ["juvenile onset <em class=\"hilite\">Parkinson</em> disease 19A"], "synonym_eng": ["juvenile onset <em class=\"hilite\">Parkinson</em> disease type 19A", "<em class=\"hilite\">PARKINSON</em> DISEASE 19, JUVENILE-ONSET; PARK19"], "synonym_std": ["juvenile onset <em class=\"hilite\">Parkinson</em> disease type 19A", "<em class=\"hilite\">PARKINSON</em> DISEASE 19, JUVENILE-ONSET; PARK19"], "definition_eng": ["A <em class=\"hilite\">Parkinson's</em> disease that has_material_basis_in homozygous mutation in the DNAJC6 gene"]}, "DOID:0060892": {"label_std": ["late onset <em class=\"hilite\">Parkinson</em> disease"], "label_eng": ["late onset <em class=\"hilite\">Parkinson</em> disease"]}, "DOID:0060894": {"synonym_eng": ["Early-onset <em class=\"hilite\">Parkinson</em> disease"], "definition_eng": ["Young-onset <em class=\"hilite\">Parkinson</em> disease (YOPD) is a form of <em class=\"hilite\">Parkinson</em> disease (PD), characterized by an age"], "definition_std": ["Young-onset <em class=\"hilite\">Parkinson</em> disease (YOPD) is a form of <em class=\"hilite\">Parkinson</em> disease (PD), characterized by an age"], "label_std": ["early-onset <em class=\"hilite\">Parkinson</em> disease"], "synonym_std": ["Early-onset <em class=\"hilite\">Parkinson</em> disease"], "label_eng": ["early-onset <em class=\"hilite\">Parkinson</em> disease"]}, "MESH:C564631": {"label_std": ["<em class=\"hilite\">Parkinson</em> Disease 8"], "synonym_eng": ["<em class=\"hilite\">Parkinson</em> Disease type 8"], "synonym_std": ["<em class=\"hilite\">Parkinson</em> Disease type 8"], "label_eng": ["<em class=\"hilite\">Parkinson</em> Disease 8"]}, "NCBIGene:101078161": {"synonym_eng": ["<em class=\"hilite\">Parkinson</em> disease 7 domain-containing protein 1-like"], "synonym_std": ["<em class=\"hilite\">Parkinson</em> disease 7 domain-containing protein 1-like"]}, "OMIM:300911": {"synonym_eng": ["<em class=\"hilite\">PARKINSONISM</em> WITH SPASTICITY, X-LINKED; XPDS"], "label_eng": ["X-linked <em class=\"hilite\">parkinsonism</em>-spasticity syndrome"]}, "OMIM:168605": {"synonym_eng": ["<em class=\"hilite\">Parkinsonism</em> with alveolar hypoventilation and mental depression", "<em class=\"hilite\">parkinsonism</em> with alveolar hypoventilation and mental depression", "<em class=\"hilite\">Parkinsonism</em> With Alveolar Hypoventilation and Mental Depression", "<em class=\"hilite\">Parkinsonism</em> with Alveolar Hypoventilation and Mental Depression"], "definition_eng": [" early-onset <em class=\"hilite\">parkinsonism</em>, central hypoventilation, weight loss, insomnia and depression."]}, "MESH:C564345": {"label_std": ["<em class=\"hilite\">Parkinson</em> Disease 11"], "synonym_eng": ["<em class=\"hilite\">Parkinson</em> Disease type 11"], "synonym_std": ["<em class=\"hilite\">Parkinson</em> Disease type 11"], "label_eng": ["<em class=\"hilite\">Parkinson</em> Disease 11"]}, "NCBIGene:610760": {"synonym_eng": ["<em class=\"hilite\">Parkinson</em> disease 7 domain-containing protein 1"], "synonym_std": ["<em class=\"hilite\">Parkinson</em> disease 7 domain-containing protein 1"]}, "Orphanet:68402": {"label_eng": ["Rare <em class=\"hilite\">parkinsonian</em> disorder"]}, "OMIM:613643": {"label_std": ["<em class=\"hilite\">Parkinson</em> Disease 5, Autosomal Dominant, Susceptibility to"], "synonym_eng": ["<em class=\"hilite\">PARKINSON</em> DISEASE 5, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK5"], "synonym_std": ["<em class=\"hilite\">PARKINSON</em> DISEASE 5, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK5"], "label_eng": ["<em class=\"hilite\">Parkinson</em> Disease 5, Autosomal Dominant, Susceptibility to"]}, "NCBIGene:423020": {"synonym_eng": ["<em class=\"hilite\">Parkinson</em> disease 7 domain-containing protein 1", "<em class=\"hilite\">Parkinson</em> disease 7 domain containing 1"], "synonym_std": ["<em class=\"hilite\">Parkinson</em> disease 7 domain-containing protein 1", "<em class=\"hilite\">Parkinson</em> disease 7 domain containing 1"]}, "NCBIGene:100511802": {"synonym_eng": ["<em class=\"hilite\">Parkinson</em> disease 7 domain-containing protein 1"], "synonym_std": ["<em class=\"hilite\">Parkinson</em> disease 7 domain-containing protein 1"]}, "NCBIGene:720833": {"synonym_eng": ["<em class=\"hilite\">Parkinson</em> disease 7 domain-containing protein 1"], "synonym_std": ["<em class=\"hilite\">Parkinson</em> disease 7 domain-containing protein 1"]}, "NCBIGene:11315": {"synonym_eng": ["<em class=\"hilite\">Parkinsonism</em> associated deglycase", "<em class=\"hilite\">Parkinson</em> disease (autosomal recessive, early onset) 7", "<em class=\"hilite\">parkinson</em> protein 7"], "synonym_std": ["<em class=\"hilite\">Parkinson</em> disease (autosomal recessive, early onset) 7", "<em class=\"hilite\">parkinson</em> protein 7"]}, "NCBIGene:530858": {"synonym_eng": ["<em class=\"hilite\">Parkinson</em> disease (autosomal recessive, juvenile) 2, parkin", "<em class=\"hilite\">parkinson</em> protein 2, E3 ubiquitin protein ligase (parkin)"], "synonym_std": ["<em class=\"hilite\">Parkinson</em> disease (autosomal recessive, juvenile) 2, parkin", "<em class=\"hilite\">parkinson</em> protein 2, E3 ubiquitin protein ligase (parkin)"]}, "NCBIGene:548568": {"synonym_eng": ["<em class=\"hilite\">Parkinson</em> disease (autosomal recessive, early onset) 7", "<em class=\"hilite\">parkinson</em> protein 7"], "synonym_std": ["<em class=\"hilite\">Parkinson</em> disease (autosomal recessive, early onset) 7", "<em class=\"hilite\">parkinson</em> protein 7"]}, "MESH:C565204": {"label_std": ["<em class=\"hilite\">Parkinson</em> Disease 13"], "synonym_eng": ["<em class=\"hilite\">Parkinson</em> Disease type 13"], "synonym_std": ["<em class=\"hilite\">Parkinson</em> Disease type 13"], "label_eng": ["<em class=\"hilite\">Parkinson</em> Disease 13"]}, "OMIM:260540": {"label_eng": ["Progressive supranuclear palsy-<em class=\"hilite\">parkinsonism</em> syndrome"], "synonym_eng": ["PSP-<em class=\"hilite\">parkinsonism</em>", "<em class=\"hilite\">PARKINSON</em>-DEMENTIA SYNDROME"], "synonym_std": ["<em class=\"hilite\">PARKINSON</em>-DEMENTIA SYNDROME"], "definition_eng": ["PSP-<em class=\"hilite\">parkinsonism</em> (PSP-P) is an atypical variant of progressive supranuclear palsy (PSP; see this"]}, "NCBIGene:449674": {"synonym_eng": ["<em class=\"hilite\">parkinson</em> disease (autosomal recessive, early onset) 7", "<em class=\"hilite\">parkinson</em> protein 7", "<em class=\"hilite\">parkinson</em> disease protein 7 homolog"], "synonym_std": ["<em class=\"hilite\">parkinson</em> disease (autosomal recessive, early onset) 7", "<em class=\"hilite\">parkinson</em> protein 7", "<em class=\"hilite\">parkinson</em> disease protein 7 homolog"]}, "MESH:C567844": {"synonym_eng": ["<em class=\"hilite\">Parkinson</em> Disease 14, Autosomal Recessive"], "synonym_std": ["<em class=\"hilite\">Parkinson</em> Disease 14, Autosomal Recessive"], "label_eng": ["Dystonia-<em class=\"hilite\">Parkinsonism</em>, Adult-Onset"]}, "NCBIGene:513454": {"synonym_eng": ["<em class=\"hilite\">Parkinson</em> disease 7 domain-containing protein 1"], "synonym_std": ["<em class=\"hilite\">Parkinson</em> disease 7 domain-containing protein 1"]}, "NCBIGene:347862": {"synonym_eng": ["<em class=\"hilite\">Parkinson</em> disease 7 domain-containing protein 1", "<em class=\"hilite\">Parkinson</em> disease 7 domain containing 1"], "synonym_std": ["<em class=\"hilite\">Parkinson</em> disease 7 domain-containing protein 1", "<em class=\"hilite\">Parkinson</em> disease 7 domain containing 1"]}, "NCBIGene:100855533": {"synonym_eng": ["<em class=\"hilite\">Parkinson</em> disease 7 domain-containing protein 1"], "synonym_std": ["<em class=\"hilite\">Parkinson</em> disease 7 domain-containing protein 1"]}, "NCBIGene:100083988": {"synonym_eng": ["<em class=\"hilite\">Parkinson</em> disease 7 domain-containing protein 1"], "synonym_std": ["<em class=\"hilite\">Parkinson</em> disease 7 domain-containing protein 1"]}}, "pagination": {}}
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--- /dev/null Thu Jan 01 00:00:00 1970 +0000 +++ b/variant-associations.xml Wed Jun 21 18:42:56 2017 -0400 @@ -0,0 +1,46 @@ +<tool id="monarch-variant-associations" name="Variant Associations" version="0.1.0"> + <requirements/> + <stdio> + <exit_code range="1:" /> + </stdio> + <command><![CDATA[ +curl -X GET --header 'Accept: application/json' 'https://api.monarchinitiative.org/api/bioentity/variant/$input/$association/?rows=$rows&fetch_objects=true' > $output + ]]></command> + <inputs> + <param name="input" type="text" format="txt" multiple="false" label="Variant (e.g. ZFIN:ZDB-ALT-010427-8, ClinVarVariant:39783)" /> + <param name="association" type="select" multiple="false" display="radio" label="Type"> + <option value="genes">Genes</option> + <option value="genotypes">Genotypes</option> + <option value="phenotypes">Phenotypes</option> + </param> + <param name="rows" type="text" format="txt" multiple="false" value="1000" label="Num Rows"/> + </inputs> + <outputs> + <data name="output" format="json" /> + </outputs> + <tests> + <test> + <param name="input" value="ZFIN:ZDB-ALT-010427-8"/> + <param name="association" value="genes"/> + <output name="output" file="genes-for-variant.json"/> + </test> + <test> + <param name="input" value="ZFIN:ZDB-ALT-010427-8"/> + <param name="association" value="genotypes"/> + <output name="output" file="genotypes-for-variant.json"/> + </test> + <test> + <param name="input" value="ClinVarVariant:65929"/> + <param name="association" value="phenotypes"/> + <output name="output" file="phenotypes-for-variant.json"/> + </test> + </tests> + <help><![CDATA[ + Pulls data from Monarch Initiative BioLink API web services as JSON. + https://api.monarchinitiative.org/api/ + ]]></help> + <citations> + <citation type="doi">doi:10.5281/zenodo.56412</citation> + </citations> +</tool> +