Retinal dystrophy, iris coloboma, and comedogenic acne syndrome

Preferred Label : Retinal dystrophy, iris coloboma, and comedogenic acne syndrome;

Symbol : RDCCAS;

CISMeF acronym : RDCCAS;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the retinol-binding protein 4 gene (RBP4, 180250.0001);

Prefixed ID : #615147;

Details

Origin ID

615147;

UMLS CUI

C3554593;

Automatic exact mappings (from CISMeF team)
- RBP4 wt Allele [NCIt concept]
CISMeF manual mappings
- Progressive retinal dystrophy due to retinol transport defect [ORDO Disease]
Currated CISMeF NLP mapping
- Progressive retinal dystrophy due to retinol transport defect (disorder) [SNOMED CT concept]
Genes related to phenotype
- Retinol-binding protein 4 [OMIM gene]
HPO term(s)
- Absent foveal reflex [HPO term]
- Autosomal recessive inheritance [HPO term]
- Comedonal acne [HPO term]
- Iris coloboma [HPO term]
- Microcornea [HPO term]
- Patent ductus arteriosus [HPO term]
- Peripheral retinal atrophy [HPO term]
- Reduced visual acuity [HPO term]
- Retinal dystrophy [HPO term]
- Visual impairment [HPO term]
ORDO concept(s)
- Progressive retinal dystrophy due to retinol transport defect [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Progressive retinal dystrophy due to retinol transport defect [ORDO Disease]

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