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DOID:0110976 - brachydactyly type E2
Disease Ontology Definition:A characterized byautosomal dominant inheritance of short stature, tooth abnormalities, and short metacarpals and metatarsals that has_material_basis_in heterozygous mutation in the PTHLH gene on chromosome 12p.
Synonyms: BDE2
Xenbase Genes
:
pthlh
| MONDO:0013244 - brachydactyly type E2 |
| MIM:613382 - BRACHYDACTYLY, TYPE E2; BDE2 |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
brachydactyly (is_a)