osteopetrosis, autosomal recessive 1

Preferred Label : osteopetrosis, autosomal recessive 1;

MeSH note : PROM;

CISMeF synonym : marble bones, autosomal recessive;

MeSH synonym : osteopetrosis, infantile malignant 1;

Related MeSH term : Albers-Schonberg Disease, Autosomal Recessive;

Details

Origin ID

C564915;

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]
MeSH term(s) associated for indexing
- osteopetrosis [MeSH Descriptor]
Record concept(s)
- Marble Bones, Autosomal Recessive [MeSH concept]
- osteopetrosis, autosomal recessive 1 [MeSH 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]
Validated automatic mappings to NTBT
- Autosomal recessive malignant osteopetrosis [ORDO Disease]

Keyword's position in hierarchy(ies) :

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