Osteopetrosis, autosomal recessive 4

Preferred Label : Osteopetrosis, autosomal recessive 4;

Symbol : OPTB4;

CISMeF acronym : OPTB4;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Osteopetrosis, infantile malignant 2;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the chloride channel-7 gene (CLCN7, 602727.0001);

Prefixed ID : #611490;

Details

Origin ID

611490;

UMLS CUI

C1969106;

Automatic exact mappings (from CISMeF team)
- CLCN7 wt Allele [NCIt concept]
Broader ORDO disease(s)
- Autosomal recessive malignant osteopetrosis [ORDO Disease]
Currated CISMeF NLP mapping
- autosomal recessive osteopetrosis 4 [DO Concept]
- osteopetrosis, autosomal recessive 4 [MeSH Supplementary Concept]
- osteopetrosis, autosomal recessive 4 [MeSH concept]
DO Cross reference
- autosomal recessive osteopetrosis 4 [DO Concept]
Genes related to phenotype
- Chloride channel 7 [OMIM gene]
HPO term(s)
- Anemia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Facial palsy [HPO term]
- Growth delay [HPO term]
- Hepatomegaly [HPO term]
- Hepatosplenomegaly [HPO term]
- Optic atrophy [HPO term]
- Optic disc pallor [HPO term]
- Osteopetrosis [HPO term]
- Petechiae [HPO term]
- Recurrent fractures [HPO term]
- Reticulocytosis [HPO term]
- Sclerotic vertebral endplates [HPO term]
- Splenomegaly [HPO term]
- Thrombocytopenia [HPO term]
- Visual impairment [HPO term]
ORDO concept(s)
- Autosomal recessive malignant osteopetrosis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- autosomal recessive osteopetrosis 4 [DO Concept]
- osteopetrosis, autosomal recessive 4 [MeSH Supplementary Concept]
- osteopetrosis, autosomal recessive 4 [MeSH concept]
Validated automatic mappings to NTBT
- Autosomal recessive malignant osteopetrosis [ORDO Disease]

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