|  Help  |  About  |  Contact Us

DO Term : orofaciodigital syndrome XIX [DOID:0060960] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  An orofaciodigital syndrome that is characterized by tongue nodules; dental anomalies including congenital absence or abnormal shape of incisors; narrow, high-arched or cleft palate; retrognathia; and digital anomalies that has_material_basis_in homozygous mutation in the SCNM1 gene on chromosome 1q21.
  • synonyms:
  • OMIM:620107,
  • Oral-facial-digital syndrome type XIX,
  • 620107
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