Teebi hypertelorism syndrome 1

Summary

DOID:0080698 - Teebi hypertelorism syndrome 1

Disease Ontology Definition:A Teebi hypertelorism syndrome that has_material_basis_in mutation in heterozygous mutation in the SPECC1L gene on chromosome 22q11.2 or heterozygous deletion at chromosome 22q11.2.

Synonyms: Opitz GBBB syndrome type II, SPECC1L-related hypertelorism syndrome, Teebi hypertelorism syndrome-1

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: specc1l

MIM:

MIM:145410 - MOVED TO 145420
MIM:145420 - TEEBI HYPERTELORISM SYNDROME 1; TBHS1

MIM:145410 - MOVED TO 145420

MIM:145420 - TEEBI HYPERTELORISM SYNDROME 1; TBHS1

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal dominant disease (is_a), Teebi hypertelorism syndrome (is_a)