Osteopetrosis, autosomal recessive 8

Preferred Label : Osteopetrosis, autosomal recessive 8;

Symbol : OPTB8;

CISMeF acronym : OPTB8;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the sorting nexin 10 gene (SNX10, 614780.0001);

Laboratory abnormalities : Elevated lactate dehydrogenase;

Prefixed ID : #615085;

Details

Origin ID

615085;

UMLS CUI

C3554478;

Currated CISMeF NLP mapping
- Autosomal Recessive Osteopetrosis 8 [NCIt concept]
- autosomal recessive osteopetrosis 8 [DO Concept]
DO Cross reference
- autosomal recessive osteopetrosis 8 [DO Concept]
Genes related to phenotype
- Sorting nexin 10 [OMIM gene]
HPO term(s)
- Anemia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Facial palsy [HPO term]
- Failure to thrive [HPO term]
- Feeding difficulties [HPO term]
- Frontal bossing [HPO term]
- Hepatomegaly [HPO term]
- Macrocephaly [HPO term]
- Optic atrophy [HPO term]
- Osteopetrosis [HPO term]
- Splenomegaly [HPO term]
- Thrombocytopenia [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 8 [NCIt concept]
- autosomal recessive osteopetrosis 8 [DO Concept]
Validated automatic mappings to NTBT
- Autosomal recessive malignant osteopetrosis [ORDO Disease]

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