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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/618107
http://purl.bioontology.org/ontology/OMIM/618107
|
|---|---|
| Preferred Name | OSTEOPETROSIS, AUTOSOMAL DOMINANT 3 |
| Synonyms |
OPTA3
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | OPTA3
|
|---|---|
| prefLabel | OSTEOPETROSIS, AUTOSOMAL DOMINANT 3
|
| Gene Symbol |
AP162
OPTA3
PLEKHM1
OPTB6
KIAA0356
|
| Scope Statement | Caused by mutation in the member 1, family M, pleckstrin homology domain-containing protein gene (PLEKHM1, 611466.0002) [MOLECULAR BASIS]
Phenotypic variability [MISCELLANEOUS]
Based on report of 2 unrelated patients (last curated August 2018) [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 17q21.3
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 618107
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C4748197
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |