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DO Term : Teebi hypertelorism syndrome 1 [DOID:0080698] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

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:
OMIM:145420,
Opitz GBBB syndrome type II,
Teebi hypertelorism syndrome-1,
ORDO:1519,
145420,
SPECC1L-related hypertelorism syndrome

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

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