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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/616681
http://purl.bioontology.org/ontology/OMIM/616681
|
|---|---|
| Preferred Name | MICROCEPHALY 16, PRIMARY, AUTOSOMAL RECESSIVE |
| Synonyms |
MCPH16
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | MCPH16
|
|---|---|
| prefLabel | MICROCEPHALY 16, PRIMARY, AUTOSOMAL RECESSIVE
|
| Gene Symbol |
KIAA0692
LEM4
MCPH16
ANKLE2
|
| Scope Statement | Caused by mutation in the ankyrin repeat- and LEM domain-containing protein 2 gene (ANKLE2, 616062.0001) [MOLECULAR BASIS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 12q24.33
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 616681
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C4225249
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |