Search Ontology:
Human Disease
syndromic microphthalmia 8
- Term ID
- DOID:0111803
- Synonyms
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- MCOPS8
- microcephaly-microphthalmia-ectrodactyly of lower limbs-prognathism syndrome
- MMEP syndrome
- syndromic microphthalmia type 8
- Viljoen-Smart syndrome
- Definition
- 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. https://www.ncbi.nlm.nih.gov/pubmed/12471201
- References
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- GARD:3693
- MESH:C537686
- MIM:601349
- ORDO:3434
- SNOMEDCT_US_2023_03_01:715533002
- UMLS_CUI:C1832440
- Ontology
- Human Disease ( DOID:0111803 )
- is a type of
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Genes Involved
Zebrafish Models