Link to this page
Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/166600
http://purl.bioontology.org/ontology/OMIM/166600
|
|---|---|
| Preferred Name | OSTEOPETROSIS, AUTOSOMAL DOMINANT 2 |
| Synonyms |
OSTEOPETROSIS, AUTOSOMAL DOMINANT, TYPE II
ALBERS-SCHONBERG DISEASE, AUTOSOMAL DOMINANT
OSTEOSCLEROSIS FRAGILIS GENERALISATA
MARBLE BONES, AUTOSOMAL DOMINANT
OPTA2
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
OSTEOPETROSIS, AUTOSOMAL DOMINANT, TYPE II
ALBERS-SCHONBERG DISEASE, AUTOSOMAL DOMINANT
OSTEOSCLEROSIS FRAGILIS GENERALISATA
MARBLE BONES, AUTOSOMAL DOMINANT
OPTA2
|
|---|---|
| prefLabel | OSTEOPETROSIS, AUTOSOMAL DOMINANT 2
|
| Gene Symbol |
CLCN7
HOD
OPTB4
CLC7
OPTA2
|
| Scope Statement | Progressive sclerosis with age [MISCELLANEOUS]
Genetic heterogeneity (see 607634) [MISCELLANEOUS]
See recessive form OPTB4 (611490) [MISCELLANEOUS]
Caused by mutation in the chloride channel 7 gene (CLCN7, 602727.0004) [MOLECULAR BASIS]
20-40% patients are asymptomatic [MISCELLANEOUS]
Onset in childhood [MISCELLANEOUS]
See more
See less
|
| type | |
| Has manifestation |
See more
See less
|
| tui | T047
|
| Gene Locus | 16p13
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 166600
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C3179239
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |