Search Ontology:
Human Disease
syndromic microphthalmia 6
- Term ID
- DOID:0111805
- Synonyms
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- anophthalmia clinical with micrognathia malformed ears digital anomalies and abnormal external genitalia
- Bakrania-Ragge syndrome
- MCOPS6
- microphthalmia and pituitary anomalies
- microphthalmia with brain and digit anomalies
- syndromic microphthalmia type 6
- Definition
- A syndromic microphthalmia characterized by clinical anophthalmia or microphthalmia, retinal dystrophy, and/or myopia, associated in some cases with cerebral anomalies that has_material_basis_in heterozygous mutation in the BMP4 gene on chromosome 14q22.2. (2)
- References
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- GARD:3645
- MESH:C566440
- MIM:607932
- ORDO:139471
- SNOMEDCT_US_2023_03_01:721878003
- UMLS_CUI:C1864689
- Ontology
- Human Disease ( DOID:0111805 )
- is a type of
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