osteopetrosis, autosomal recessive 6

Preferred Label : osteopetrosis, autosomal recessive 6;

MeSH note : mutation in PLEKHM1;

MeSH synonym : osteopetrosis, autosomal recessive, intermediate form;

Details

Origin ID

C566931;

UMLS CUI

C1969093;

Currated CISMeF NLP mapping
- Osteopetrosis, autosomal recessive 6 [OMIM Phenotype]
- autosomal recessive osteopetrosis 6 [DO Concept]
MeSH term(s) associated for indexing
- osteopetrosis [MeSH Descriptor]
Record concept(s)
- osteopetrosis, autosomal recessive 6 [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Osteopetrosis, autosomal recessive 6 [OMIM Phenotype]
- autosomal recessive osteopetrosis 6 [DO Concept]

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