Gaucher disease, atypical, due to saposin C deficiency

Preferred Label : Gaucher disease, atypical, due to saposin C deficiency;

Symbol : GDSAPC;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Saposin C deficiency;

Prefixed ID : #610539;

Détails

Origin ID

610539;

UMLS CUI

C1864651;

Currated CISMeF NLP mapping
- Atypical Gaucher disease due to saposin C deficiency [ICD-11 More detail]
- Atypical Gaucher disease due to saposin C deficiency [ORDO Disease]
- Atypical Gaucher disease due to saposin C deficiency (disorder) [SNOMED CT concept]
- atypical Gaucher's disease due to saposin c deficiency [DO Concept]
- gaucher disease, atypical, due to saposin C deficiency [MeSH concept]
- gaucher disease, atypical, due to saposin C deficiency [MeSH Supplementary Concept]
DO Cross reference
- atypical Gaucher's disease due to saposin c deficiency [DO Concept]
Genes related to phenotype
- Prosaposin [OMIM gene]
HPO term(s)
- Abducens palsy [HPO term]
- Anemia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bilateral tonic-clonic seizure with focal onset [HPO term]
- Bone pain [HPO term]
- Chronic fatigue [HPO term]
- Clonic seizure [HPO term]
- Developmental regression [HPO term]
- Elevated serum acid phosphatase [HPO term]
- Erlenmeyer flask deformity of the femurs [HPO term]
- Hepatomegaly [HPO term]
- Horizontal nystagmus [HPO term]
- Hypersplenism [HPO term]
- Hypocholesterolemia [HPO term]
- Increased cerebral lipofuscin [HPO term]
- Intention tremor [HPO term]
- Myoclonus [HPO term]
- Osteopenia [HPO term]
- Ptosis [HPO term]
- Seizure [HPO term]
- Splenomegaly [HPO term]
- Status epilepticus [HPO term]
- Supranuclear gaze palsy [HPO term]
- Thrombocytopenia [HPO term]
ORDO concept(s)
- Atypical Gaucher disease due to saposin C deficiency [ORDO Disease]
- Gaucher disease [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Atypical Gaucher disease due to saposin C deficiency [ORDO Disease]
- Atypical Gaucher disease due to saposin C deficiency [ICD-11 More detail]
- Atypical Gaucher disease due to saposin C deficiency (disorder) [SNOMED CT concept]
- atypical Gaucher's disease due to saposin c deficiency [DO Concept]
- gaucher disease, atypical, due to saposin C deficiency [MeSH Supplementary Concept]
- gaucher disease, atypical, due to saposin C deficiency [MeSH concept]

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