Autosomal Recessive Osteopetrosis 1

Preferred Label : Autosomal Recessive Osteopetrosis 1;

NCIt synonyms : ARO1; Infantile Malignant Osteopetrosis 1; Autosomal Recessive Marble Bones; Autosomal Recessive Albers-Schonberg Disease; Autosomal Recessive Osteopetrosis Type 1; OPTB1;

NCIt definition : A sub-type of autosomal recessive osteopetrosis caused by mutation(s) in the TCIRG1 gene on chromosome 11q13, encoding the osteoclast-specific (alpha 3) subunit of the vacuolar proton pump. It is characterized by macrocephaly, frontal bossing, nystagmus, optic atrophy, blindness, deafness, and facial palsy.;

Details

Origin ID

C167215;

UMLS CUI

C1850127;

Automatic exact mappings (from CISMeF team)
- Marble Bones, Autosomal Recessive [MeSH concept]
Currated CISMeF NLP mapping
- Osteopetrosis, autosomal recessive 1 [OMIM Phenotype]
- autosomal recessive osteopetrosis 1 [DO Concept]
- osteopetrosis, autosomal recessive 1 [MeSH concept]
- osteopetrosis, autosomal recessive 1 [MeSH Supplementary Concept]
Has associated anatomic sites
- Bone [NCIt concept]
- Connective and Soft Tissue [NCIt concept]
- Musculoskeletal System [NCIt concept]
See also inter- (CISMeF)
- cytochrome P450 family 19 subfamily A member 1 [ORDO Gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Osteopetrosis, autosomal recessive 1 [OMIM Phenotype]
- autosomal recessive osteopetrosis 1 [DO Concept]
- osteopetrosis, autosomal recessive 1 [MeSH Supplementary Concept]
- osteopetrosis, autosomal recessive 1 [MeSH concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_normal_tissue_origin
- Connective and Soft Tissue [NCIt concept]
disease_has_primary_anatomic_site
- Bone [NCIt concept]
disease_mapped_to_gene
- TCIRG1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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