Fanconi renotubular syndrome 3

Preferred Label : Fanconi renotubular syndrome 3;

Symbol : FRTS3;

CISMeF acronym : FRTS3;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the enoyl-Coenzyme A, hydratase/3-hydroxyacyl Coenzyme A dehydrogenase gene (EHHADH, 607037.0001);

Laboratory abnormalities : Phosphaturia; Aminoaciduria; Proteinuria; Glucosuria;

Prefixed ID : #615605;

Détails

Origin ID

615605;

UMLS CUI

C3810100;

Currated CISMeF NLP mapping
- Fanconi renotubular syndrome 3 [DO Concept]
DO Cross reference
- Fanconi renotubular syndrome 3 [DO Concept]
Genes related to phenotype
- Enoyl-coa hydratase/3-hydroxyacyl coa dehydrogenase [OMIM gene]
HPO term(s)
- Aminoaciduria [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bowing of the legs [HPO term]
- Glycosuria [HPO term]
- Growth delay [HPO term]
- Hyperphosphaturia [HPO term]
- Metabolic acidosis [HPO term]
- Proteinuria [HPO term]
- Rickets [HPO term]
- Short stature [HPO term]
- Variable expressivity [HPO term]
Not associated HPO term(s)
- Renal insufficiency [HPO term]
ORDO concept(s)
- Primary Fanconi renotubular syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Position du mot-clé dans l'(les) arborescence(s) :

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