Autosomal Dominant Osteopetrosis

Preferred Label : Autosomal Dominant Osteopetrosis;

NCIt related terms : Marble Bone Disease; Benign Osteopetrosis; Autosomal Dominant Osteopetrosis Type 2; Albers-Schonberg Disease;

Alternative definition : NICHD: An autosomal dominant form of osteopetrosis due to mutation(s) in the CLCN7 gene, encoding H( )/Cl(-) exchange transporter 7. Clinical features include sclerosis involving the spine, the pelvis, and the base of the skull. Complications can include optic nerve compression, dental abscesses, anemia, and bone fragility. One third of individuals who carry a CLCN7 mutation have a normal skeletal phenotype.;

Details

Origin ID

C129732;

UMLS CUI

C4272579;

Automatic exact mappings (from CISMeF team)
- Albers-Schonberg disease [MedDRA LLT]
- Albers-Schönberg osteopetrosis [ORDO Disease]
- Autosomal dominant osteopetrosis type 2 [ICD-11 More detail]
- Infantile malignant osteopetrosis (disorder) [SNOMED CT concept]
- Marble bone disease [MedDRA LLT]
- Osteopetrosis [MedDRA Preferred Term]
- Osteopetrosis [HPO term]
- Osteopetrosis [PASCAL descriptor]
- Osteopetrosis, autosomal dominant [OMIM phenotypic series]
- Osteopetrosis, autosomal dominant 2 [OMIM Phenotype]
- infantile malignant osteopetrosis [SNOMED Notion]
- osteopetrosis [DO Concept]
- osteopetrosis [MeSH Descriptor]
- osteopetrosis autosomal dominant type 2 [MeSH concept]
Has associated anatomic sites
- Bone [NCIt concept]
- Connective and Soft Tissue [NCIt concept]
- Musculoskeletal System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
Validated automatic mappings to BTNT
- Autosomal dominant osteopetrosis type 2 (disorder) [SNOMED CT concept]
- autosomal dominant osteopetrosis 2 [DO Concept]
Validated automatic mappings to NTBT
- Osteopetrosis [ICD-11 Sub-sub category]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Pediatric Endocrinology 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
- CLCN7 Gene [NCIt concept]
related_to_genetic_biomarker
- CLCN7 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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