Cataract 47 - CISMeF

Preferred Label : Cataract 47;

Symbol : CTRCT47;

CISMeF acronym : CJMG; CTRCT47;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : CJMG; Cataract, juvenile, with microcornea and glucosuria; Cataract, juvenile, with microcornea;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the solute carrier family 16 (monocarboxylic acid transporter), member-12 gene (SLC16A12, 611910.0001);

Laboratory abnormalities : Increased fractional renal excretion of guanidinoacetate;

Prefixed ID : #612018;

Details

Origin ID

612018;

UMLS CUI

C4310806;

Automatic exact mappings (from CISMeF team)
- cataract 47 [DO Concept]
Currated CISMeF NLP mapping
- Juvenile cataract-microcornea-renal glucosuria syndrome [ORDO Disease]
- cataract, juvenile, with microcornea and glucosuria [MeSH concept]
- cataract, juvenile, with microcornea and glucosuria [MeSH Supplementary Concept]
DO Cross reference
- cataract 47 [DO Concept]
Genes related to phenotype
- Solute carrier family 16 (monocarboxylic acid transporter), member 12 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Cataract [HPO term]
- Glycosuria [HPO term]
- Microcornea [HPO term]
Not associated HPO term(s)
- Microphthalmia [HPO term]
ORDO concept(s)
- Juvenile cataract-microcornea-renal glucosuria syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients