syndromic microphthalmia 9

Term ID

DOID:0111807

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 )