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DO Term : syndromic microphthalmia 9 [DOID:0111807] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • SNOMEDCT_US_2023_03_01:722458000,
  • anophthalmia-pulmonary hypoplasia syndrome,
  • Matthew-Wood syndrome,
  • anophthalmia/microphthalmia and pulmonary hypoplasia,
  • ORDO:2470,
  • 601186,
  • clinical anophthalmia mild facial dysmorphism lung heart and diaphragm malformations,
  • spear syndrome,
  • pulmonary agenesis microphthalmi and diaphragmatic defect,
  • DOID:0050819,
  • UMLS_CUI:C1832661,
  • OMIM:601186,
  • MESH:C537768
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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