Click here to close Hello! We notice that you are using Internet Explorer, which is not supported by Xenbase and may cause the site to display incorrectly. We suggest using a current version of Chrome, FireFox, or Safari.
Summary Literature (0)
DOID:0050604 - acrocapitofemoral dysplasia

Disease Ontology 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.

Synonyms:

Xenbase Genes : ihh

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0011907 - acrocapitofemoral dysplasia

MIM:
MIM:607778 - ACROCAPITOFEMORAL DYSPLASIA; ACFD

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view
Parent(s): autosomal recessive disease (is_a), osteochondrodysplasia (is_a)