Hypotaurinemic retinal degeneration and cardiomyopathy

Preferred Label : Hypotaurinemic retinal degeneration and cardiomyopathy;

Symbol : HTRDC;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Prefixed ID : #145350;

Details

Origin ID

145350;

UMLS CUI

C5542181;

Currated CISMeF NLP mapping
- hypertaurinuric cardiomyopathy [MeSH concept]
- hypertaurinuric cardiomyopathy [MeSH Supplementary Concept]
Genes related to phenotype
- Solute carrier family 6 (neurotransmitter transporter, taurine), member 6 [OMIM gene]
HPO term(s)
- Attenuation of retinal blood vessels [HPO term]
- Autosomal dominant inheritance [HPO term]
- Congenital onset [HPO term]
- Dilated cardiomyopathy [HPO term]
- High hypermetropia [HPO term]
- Hypotaurinemia [HPO term]
- Infantile onset [HPO term]
- Left ventricular systolic dysfunction [HPO term]
- Macular atrophy [HPO term]
- Mitral valve prolapse [HPO term]
- Nystagmus [HPO term]
- Peripheral retinal atrophy [HPO term]
- Peripheral visual field loss [HPO term]
- Photoreceptor layer loss on macular OCT [HPO term]
- Retinal pigment epithelial mottling [HPO term]
- Retinal thinning [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- hypertaurinuric cardiomyopathy [MeSH Supplementary Concept]
- hypertaurinuric cardiomyopathy [MeSH concept]

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