osteopetrosis with renal tubular acidosis

Preferred Label : osteopetrosis with renal tubular acidosis;

MeSH synonym : guibaud vainsel syndrome; marble brain disease; carbonic anhydrase 2 deficiency; Guibaud-Vainsel syndrome; carbonic anhydrase II deficiency; osteopetrosis, autosomal recessive 3;

Details

Origin ID

C536058;

UMLS CUI

C0345407;

Currated CISMeF NLP mapping
- Osteopetrosis with Renal Tubular Acidosis [NCIt 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]
MeSH term(s) associated for indexing
- acidosis, renal tubular [MeSH Descriptor]
- carbonic anhydrases [MeSH Descriptor]
- osteopetrosis [MeSH Descriptor]
- urea cycle disorders, inborn [MeSH Descriptor]
ORDO relation(s)
- Osteopetrosis with renal tubular acidosis [ORDO Disease]
Record concept(s)
- Osteopetrosis with renal tubular acidosis [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Osteopetrosis with Renal Tubular Acidosis [NCIt 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]

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