Terminology Service for NFDI4Health
acrocapitofemoral dysplasia
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http://purl.obolibrary.org/obo/DOID_0050604
An osteochondrodysplasia characterized by skeletal dysplasia, bradydactyly and narrow thorax and has_material_basis_in mutations in the Indian hedgehog homolog gene. [ http://purl.obolibrary.org/obo/ECO_0007637 ]
Term info
Label
acrocapitofemoral dysplasia
comment
OMIM mapping confirmed by DO. [SN].
has obo namespace
disease_ontology
id
DOID:0050604