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Human Health Exposure Analysis Resource
Last uploaded:
July 19, 2024
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| Preferred Name | acrocapitofemoral dysplasia | |
| Synonyms |
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| Definitions |
An osteochondrodysplasia characterized by skeletal dysplasia, bradydactyly and narrow thorax and has_material_basis_in mutations in the Indian hedgehog homolog gene. OMIM mapping confirmed by DO. [SN]. |
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| ID |
http://purl.obolibrary.org/obo/DOID_0050604 |
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| comment |
OMIM mapping confirmed by DO. [SN].
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| database_cross_reference |
MESH:C564334 GARD:10605 MIM:607778
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|
| definition |
An osteochondrodysplasia characterized by skeletal dysplasia, bradydactyly and narrow thorax and has_material_basis_in mutations in the Indian hedgehog homolog gene. OMIM mapping confirmed by DO. [SN].
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| has material basis in | ||
| has_obo_namespace |
disease_ontology
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| id |
DOID:0050604
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| in_subset | ||
| label |
acrocapitofemoral dysplasia
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|
| notation |
DOID:0050604
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| note |
An osteochondrodysplasia characterized by skeletal dysplasia, bradydactyly and narrow thorax and has_material_basis_in mutations in the Indian hedgehog homolog gene. OMIM mapping confirmed by DO. [SN].
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|
| preferred label |
acrocapitofemoral dysplasia
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| prefLabel |
acrocapitofemoral dysplasia
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| subClassOf |
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