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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/251200
http://purl.bioontology.org/ontology/OMIM/251200
|
|---|---|
| Preferred Name | MICROCEPHALY 1, PRIMARY, AUTOSOMAL RECESSIVE |
| Synonyms |
PREMATURE CHROMOSOME CONDENSATION WITH MICROCEPHALY AND MENTAL RETARDATION
PREMATURE CHROMOSOME CONDENSATION SYNDROME
MCPH1
PCC SYNDROME
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
PREMATURE CHROMOSOME CONDENSATION WITH MICROCEPHALY AND MENTAL RETARDATION
PREMATURE CHROMOSOME CONDENSATION SYNDROME
MCPH1
PCC SYNDROME
|
|---|---|
| prefLabel | MICROCEPHALY 1, PRIMARY, AUTOSOMAL RECESSIVE
|
| Gene Symbol | MCPH1
|
| Scope Statement | Caused by mutation in the microcephalin gene (MCPH1, 607117.0001) [MOLECULAR BASIS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 8p23
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 251200
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C1855081
|
| Moved from |
606858
218455
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |