Osteopetrosis with Renal Tubular Acidosis

Preferred Label : Osteopetrosis with Renal Tubular Acidosis;

NCIt synonyms : Autosomal Recessive Osteopetrosis, Type 3; Marble Brain Disease; Carbonic Anhydrase II Deficiency; Autosomal Recessive Osteopetrosis 3; OPTB3; Guibaud-Vainsel Syndrome;

NCIt definition : A rare, autosomal recessive inherited disorder caused by mutation in the CA2 gene. It is characterized by osteopetrosis, renal tubular acidosis, and cerebral calcifications. It results in growth failure, mental retardation, and fractures.;

Details

Origin ID

C118438;

UMLS CUI

C0345407;

Automatic exact mappings (from CISMeF team)
- Carbonic anhydrase II deficiency [ICD-11 More detail]
Currated CISMeF NLP mapping
- Osteopetrosis with renal tubular acidosis [MeSH concept]
- Osteopetrosis with renal tubular acidosis [ICD-11 More detail]
- Osteopetrosis with renal tubular acidosis [ORDO Disease]
- Osteopetrosis with renal tubular acidosis (disorder) [SNOMED CT concept]
- Osteopetrosis, autosomal recessive 3 [OMIM Phenotype]
- autosomal recessive osteopetrosis 3 [DO Concept]
- osteopetrosis with renal tubular acidosis [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Osteopetrosis with renal tubular acidosis [MeSH concept]
- Osteopetrosis with renal tubular acidosis [ICD-11 More detail]
- Osteopetrosis with renal tubular acidosis (disorder) [SNOMED CT concept]
- Osteopetrosis, autosomal recessive 3 [OMIM Phenotype]
- autosomal recessive osteopetrosis 3 [DO Concept]
- osteopetrosis with renal tubular acidosis [MeSH Supplementary Concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- CA2 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients