ZFIN Human Disease: Teebi hypertelorism syndrome 1

OBO ID: DOID:0080698

Term Name:	Teebi hypertelorism syndrome 1		Search Ontology:
Synonyms:	Opitz GBBB syndrome type II SPECC1L-related hypertelorism syndrome Teebi hypertelorism syndrome-1
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. (3)
References:	OMIM:145420 ORDO:1519
Ontology:	Human Disease ( DOID:0080698 )

Relationships

is a type of:	autosomal dominant disease Teebi hypertelorism syndrome autosomal dominant disease Teebi hypertelorism syndrome Show first 5 Terms

OTHER Teebi hypertelorism syndrome 1 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
SPECC1L	specc1lb specc1la	Teebi hypertelorism syndrome 1	145420

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None