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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/309800
http://purl.bioontology.org/ontology/OMIM/309800
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|---|---|
| Preferred Name | MICROPHTHALMIA, SYNDROMIC 1 |
| Synonyms |
MICROPHTHALMIA, SYNDROMIC 4, FORMERLY
LENZ DYSPLASIA
LENZ MICROPHTHALMIA SYNDROME
MCOPS1
ANOP1, FORMERLY
MCOPS4, FORMERLY
MAA, FORMERLY
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
MICROPHTHALMIA, SYNDROMIC 4, FORMERLY
LENZ DYSPLASIA
LENZ MICROPHTHALMIA SYNDROME
MCOPS1
ANOP1, FORMERLY
MCOPS4, FORMERLY
MAA, FORMERLY
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|---|---|
| prefLabel | MICROPHTHALMIA, SYNDROMIC 1
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| Gene Symbol |
OGDNS
NATD
ARD1
MCOPS1
NAA10
ARD1A
TE2
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| Scope Statement | Multiple spontaneous abortions in obligate carriers [MISCELLANEOUS]
Mild expression in heterozygous carriers [MISCELLANEOUS]
Inter- and intrafamilial clinical variability [MISCELLANEOUS]
Variable expressivity [MISCELLANEOUS]
Caused by mutation in the NatA catalytic subunit of N-alpha-acetyltransferase-10 gene (NAA10, 300013.0002) [MOLECULAR BASIS]
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| type | |
| Has manifestation |
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| tui | T019
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| Gene Locus | Xq28
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| notation | 309800
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C0796016
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| Moved from | 301590
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| OMIM Entry Type | 3
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| OMIM MimType Value | pound
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| Delete | Subject | Author | Type | Created |
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| No notes to display |