osteopetrosis, autosomal recessive 1

Preferred Label : osteopetrosis, autosomal recessive 1;

UMLS semantic type : T047 - Disease or Syndrome;

Origin ID

M0565215;

UMLS CUI

C1850127;

Currated CISMeF NLP mapping
- Autosomal Recessive Osteopetrosis 1 [NCIt concept]
- Osteopetrosis, autosomal recessive 1 [OMIM Phenotype]
- autosomal recessive osteopetrosis 1 [DO Concept]
Related MeSH concept(s)
- Marble Bones, Autosomal Recessive [MeSH concept]
Related record
- osteopetrosis, autosomal recessive 1 [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal Recessive Osteopetrosis 1 [NCIt concept]
- Osteopetrosis, autosomal recessive 1 [OMIM Phenotype]
- autosomal recessive osteopetrosis 1 [DO Concept]