ZFIN Human Disease: syndromic microphthalmia 9

OBO ID: DOID:0111807

Term Name:	syndromic microphthalmia 9		Search Ontology:
Synonyms:	anophthalmia-pulmonary hypoplasia syndrome anophthalmia/microphthalmia and pulmonary hypoplasia clinical anophthalmia mild facial dysmorphism lung heart and diaphragm malformations Matthew-Wood syndrome pulmonary agenesis microphthalmi and diaphragmatic defect spear syndrome
Definition:	A syndromic microphthalmia characterized by bilateral clinical anophthalmia, pulmonary hypoplasia or aplasia, cardiac malformations, and diaphragmatic defects that has_material_basis_in homozygous or compound heterozygous mutation in the STRA6 gene on chromosome 15q24.1. (3)
References:	MESH:C537768 OMIM:601186 ORDO:2470 SNOMEDCT_US_2023_03_01:722458000 UMLS_CUI:C1832661
Ontology:	Human Disease ( DOID:0111807 )

Relationships

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

OTHER syndromic microphthalmia 9 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
STRA6	stra6	Microphthalmia, isolated, with coloboma 8	601186
		Microphthalmia, syndromic 9	601186

ZEBRAFISH MODELS

Fish	Conditions	Citations
AB/TL + MO1-stra6	standard conditions	Isken et al., 2008
AB/TL + MO2-stra6	standard conditions	Isken et al., 2008
AB/TL + MO3-stra6	standard conditions	Isken et al., 2008

PHENOTYPE No data available

CITATIONS (3)