|  Help  |  About  |  Contact Us

DO Term : proximal symphalangism 2 [DOID:0080788] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A proximal symphalangism that is characterized by absence of the cuboid bone and lack of shortness of the first and fifth metacarpal bones, and the presence of distal interphalangeal joint fusions and flat feet and that has_material_basis_in heterozygous mutation in the GDF5 gene on chromosome 20q11.
  • synonyms:
  • OMIM:615298,
  • 615298
Quick Links:
 
Quick Links:
 

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents