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| Term | syndromic microphthalmia 8 | ID (Ontology) | DOID:0111803 (Human Disease) |
| 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. | ||
| Also Known As | "MCOPS8" ; "microcephaly-microphthalmia-ectrodactyly of lower limbs-prognathism syndrome" ; "MMEP syndrome" (for all, see Synonyms field below) | ||
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| DO.org | |||
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| Records annotated with this term OR any of its CHILD TERMS | |||
Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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No relevant statements available
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monogenic disease |__autosomal genetic disease__ microphthalmia | |__syndromic microphthalmia___| syndromic microphthalmia 8 |
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| Is a |
autosomal genetic disease syndromic microphthalmia |
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External Crossreferences & Linkouts
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GARD:3693 MESH:C537686 MIM:601349 ORDO:3434 SNOMEDCT_US_2023_03_01:715533002 UMLS_CUI:C1832440 |
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