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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/259700
http://purl.bioontology.org/ontology/OMIM/259700
|
|---|---|
| Preferred Name | OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1 |
| Synonyms |
OSTEOPETROSIS, INFANTILE MALIGNANT 1
ALBERS-SCHONBERG DISEASE, AUTOSOMAL RECESSIVE
OPTB1
MARBLE BONES, AUTOSOMAL RECESSIVE
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
OSTEOPETROSIS, INFANTILE MALIGNANT 1
ALBERS-SCHONBERG DISEASE, AUTOSOMAL RECESSIVE
OPTB1
MARBLE BONES, AUTOSOMAL RECESSIVE
|
|---|---|
| prefLabel | OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1
|
| Gene Symbol |
OC116
OPTB1
TIRC7
TCIRG1
|
| Scope Statement | Caused by mutation in the T-cell immune regulator 1 gene (TCIRG1, 604592.0001) [MOLECULAR BASIS]
Genetic heterogeneity (see 259700) [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 11q13.4-q13.5
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 259700
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui |
C1850127
C4551971
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |