Osteopetrosis, autosomal recessive 6

Preferred Label : Osteopetrosis, autosomal recessive 6;

Symbol : OPTB6;

CISMeF acronym : OPTB6;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Osteopetrosis, autosomal recessive, intermediate form;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the pleckstrin homology domain-containing protein, family M, member 1 gene (PLEKHM1, 611466.0001);

Prefixed ID : #611497;

Details

Origin ID

611497;

UMLS CUI

C1969093;

Automatic exact mappings (from CISMeF team)
- Intermediate osteopetrosis [ORDO Disease]
Currated CISMeF NLP mapping
- autosomal recessive osteopetrosis 6 [DO Concept]
- osteopetrosis, autosomal recessive 6 [MeSH concept]
- osteopetrosis, autosomal recessive 6 [MeSH Supplementary Concept]
DO Cross reference
- autosomal recessive osteopetrosis 6 [DO Concept]
Genes related to phenotype
- Pleckstrin homology domain-containing protein, family M, member 1 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Cortical sclerosis of the iliac wing [HPO term]
- Dense metaphyseal bands [HPO term]
- Erlenmeyer flask deformity of the femurs [HPO term]
- Osteopetrosis [HPO term]
ORDO concept(s)
- Intermediate osteopetrosis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- autosomal recessive osteopetrosis 6 [DO Concept]
- osteopetrosis, autosomal recessive 6 [MeSH Supplementary Concept]
- osteopetrosis, autosomal recessive 6 [MeSH concept]

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