Autosomal Recessive Osteopetrosis 8

Preferred Label : Autosomal Recessive Osteopetrosis 8;

NCIt synonyms : OPTB8;

NCIt definition : A sub-type of autosomal recessive osteopetrosis caused by mutation(s) in the SNX10 gene, encoding sorting nexin-10.;

Details

Origin ID

C150556;

UMLS CUI

C3554478;

Currated CISMeF NLP mapping
- Osteopetrosis, autosomal recessive 8 [OMIM Phenotype]
- autosomal recessive osteopetrosis 8 [DO 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]
UMLS correspondences (same concept)
- Osteopetrosis, autosomal recessive 8 [OMIM Phenotype]
- autosomal recessive osteopetrosis 8 [DO Concept]
concept_is_in_subset
- CTRP Disease Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
- 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]

Keyword's position in hierarchy(ies) :

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