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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/615877
http://purl.bioontology.org/ontology/OMIM/615877
|
|---|---|
| Preferred Name | MICROPHTHALMIA/COLOBOMA AND SKELETAL DYSPLASIA SYNDROME |
| Synonyms |
MCOPS14
MICROPHTHALMIA AND/OR COLOBOMA WITH OR WITHOUT RHIZOMELIC SKELETAL DYSPLASIA
MICROPHTHALMIA, SYNDROMIC 14
MCSKS
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
MCOPS14
MICROPHTHALMIA AND/OR COLOBOMA WITH OR WITHOUT RHIZOMELIC SKELETAL DYSPLASIA
MICROPHTHALMIA, SYNDROMIC 14
MCSKS
|
|---|---|
| prefLabel | MICROPHTHALMIA/COLOBOMA AND SKELETAL DYSPLASIA SYNDROME
|
| Gene Symbol |
MAB21L2
MCSKS14
|
| Scope Statement | Homozygous mutation reported in 1 family, in which heterozygous parents had normal vision and ocular examination [MISCELLANEOUS]
Caused by mutation in the mab-21 like 2 gene (MAB21L2, 604357.0001) [MOLECULAR BASIS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 4q31.3
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 615877
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C4014540
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
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| Delete | Subject | Author | Type | Created |
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| No notes to display |