Search Ontology:
Human Disease
acrocapitofemoral dysplasia
- Term ID
- DOID:0050604
- Synonyms
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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. https://rarediseases.info.nih.gov/diseases/10605/acrocapitofemoral-dysplasia
- References
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- GARD:10605
- MESH:C564334
- MIM:607778
- Ontology
- Human Disease ( DOID:0050604 )
- is a type of
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Genes Involved
Zebrafish Models