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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/618124
http://purl.bioontology.org/ontology/OMIM/618124
|
|---|---|
| Preferred Name | PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT |
| Synonyms |
PNRIID
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | PNRIID
|
|---|---|
| prefLabel | PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT
|
| Gene Symbol |
MAP80
GANP
PNRIID
MCM3AP
|
| Scope Statement | Slowly progressive [MISCELLANEOUS]
Caused by mutation in the minichromosome maintenance 3-associated protein gene (MCM3AP, 603294.0001) [MOLECULAR BASIS]
Onset in infancy or first decade [MISCELLANEOUS]
Variable phenotype and severity [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 21q22.3
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 618124
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C4748283
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |