Autosomal Recessive Osteopetrosis

Preferred Label : Autosomal Recessive Osteopetrosis;

NCIt related terms : Malignant Osteopetrosis;

NCIt definition : An autosomal recessive form of osteopetrosis caused by mutation(s) in at least 8 genes related to osteoclast function. This condition is characterized by the failure of osteoclasts to resorb bone, resulting in impaired bone modeling/remodeling, and skeletal fragility despite increased bone mass; it is also associated with hematopoietic insufficiency, hypocalcemia, disturbed tooth eruption, nerve entrapment syndromes, and growth impairment. Some cases are also associated with progressive neurological deterioration.;

NCI Metathesaurus CUI : CL513023;

Details

Origin ID

C129733;

UMLS CUI

C4272578;

Currated CISMeF NLP mapping
- Osteopetrosis, autosomal recessive [OMIM phenotypic series]
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]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- 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]

Keyword's position in hierarchy(ies) :

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