Cataract 48 - CISMeF

Preferred Label : Cataract 48;

Symbol : CTRCT48;

CISMeF acronym : CTRCT48;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the dynamin-binding protein gene (DNMBP, 611282.0001);

Prefixed ID : #618415;

Details

Origin ID

618415;

UMLS CUI

C5193082;

Currated CISMeF NLP mapping
- cataract 48 [DO Concept]
DO Cross reference
- cataract 48 [DO Concept]
Genes related to phenotype
- Dynamin-binding protein [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Exotropia [HPO term]
- Miosis [HPO term]
- Pendular nystagmus [HPO term]
ORDO concept(s)
- Total early-onset cataract [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