|  Help  |  About  |  Contact Us

DO Term : Carey-Fineman-Ziter syndrome 1 [DOID:0061115] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A Carey-Fineman-Ziter syndrome characterized by hypotonia, Moebius sequence (bilateral congenital facial palsy with impairment of ocular abduction), Pierre Robin complex (micrognathia, glossoptosis, and high-arched or cleft palate), delayed motor milestones, and failure to thrive that has_material_basis_in homozygous or compound heterozygous mutation in the MYMK gene on chromosome 9q34.
  • synonyms:
  • OMIM:254940,
  • CFZS1,
  • 254940
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