ZFIN Human Disease: syndromic microphthalmia 3

OBO ID: DOID:0111801

Term Name:	syndromic microphthalmia 3		Search Ontology:
Synonyms:	AEG syndrome anophthalmia clinical with associated anomalies anophthalmia esophageal genital syndrome anophthalmia microphthalmia esophageal atresia anophthalmia/microphthalmia-esophageal atresia syndrome MCOPS3 microphthalmia and esophageal atresia syndrome SOX2 anophthalmia syndrome syndromic microphthalmia type 3
Definition:	A syndromic microphthalmia characterized by clinical anophthalmia or microphthalmia, with various extraocular symptoms that has_material_basis_in heterozygous mutation in the SOX2 gene on chromosome 3q26.33. (2)
References:	GARD:1443 MESH:C565948 OMIM:206900 ORDO:77298 SNOMEDCT_US_2023_03_01:698851003 UMLS_CUI:C1859773
Ontology:	Human Disease ( DOID:0111801 )

Relationships

is a type of:	autosomal dominant disease syndromic microphthalmia autosomal dominant disease syndromic microphthalmia Show first 5 Terms

OTHER syndromic microphthalmia 3 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
SOX2	sox2	Optic nerve hypoplasia and abnormalities of the central nervous system	206900
		Microphthalmia, syndromic 3	206900

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None