Search Ontology:
Human Disease

acrocapitofemoral dysplasia

Term ID
DOID:0050604
Synonyms
Definition
An osteochondrodysplasia characterized by postnatal-onset disproportionate short stature, relatively large head, narrow thorax, lumbar lordosis, short limbs, and brachydactyly with small broad nails and that has_material_basis_in homozygous mutation in the Indian hedgehog homolog (IHH) gene on chromosome 2q35. (2)
References
Ontology
Human Disease   ( DOID:0050604 )
Relationships
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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