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DO Term : syndromic microphthalmia 8 [DOID:0111803] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A syndromic microphthalmia characterized by microcephaly, microphthalmia, ectrodactyly of the lower limbs, prognathism and intellectual disability that has_material_basis_in mutation in a region of chromosome 6q21.
  • synonyms:
  • MESH:C537686,
  • SNOMEDCT_US_2023_03_01:715533002,
  • MMEP syndrome,
  • syndromic microphthalmia type 8,
  • ORDO:3434,
  • MCOPS8,
  • UMLS_CUI:C1832440,
  • Viljoen-Smart syndrome,
  • microcephaly-microphthalmia-ectrodactyly of lower limbs-prognathism syndrome,
  • 601349,
  • GARD:3693,
  • OMIM:601349
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Disease

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Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents