OBO ID: DOID:0111799
Term Name: syndromic microphthalmia 1 Search Ontology:
Synonyms:
  • Lenz dysplasia
  • Lenz microphthalmia
  • Lenz type microphthalmia
  • MCOPS1
  • syndromic microphthalmia 4
Definition: A syndromic microphthalmia characterized by unilateral or bilateral microphthalmia or anophthalmia and defects in the skeletal and genitourinary system that has_material_basis_in mutation in the NAA10 gene on chromosome Xq28. (4)
References:
  • GARD:5066
  • GARD:87
  • OMIM:309800
  • ORDO:568
  • ORDO:85275
  • SNOMEDCT_US_2023_03_01:717222003
  • UMLS_CUI:C1844948
Ontology: Human Disease   ( DOID:0111799 )
Relationships
is a type of:
OTHER syndromic microphthalmia 1 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
NAA10 Microphthalmia, syndromic 1 309800
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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