Retinohepatoendocrinologic syndrome

Preferred Label : Retinohepatoendocrinologic syndrome;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Rhe syndrome;

Inheritance : Autosomal recessive;

Laboratory abnormalities : Elevated blood creatine phosphokinase;

Prefixed ID : 268040;

Details

Origin ID

268040;

UMLS CUI

C1849399;

Currated CISMeF NLP mapping
- Retinohepatoendocrinologic syndrome [ORDO Disease]
- Retinohepatoendocrinologic syndrome (disorder) [SNOMED CT concept]
- retinohepatoendocrinologic syndrome [MeSH concept]
- retinohepatoendocrinologic syndrome [MeSH Supplementary Concept]
HPO term(s)
- Abnormality of skin pigmentation [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cone dystrophy [HPO term]
- Degenerative liver disease [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Hypothyroidism [HPO term]
- Infertility [HPO term]
- Maturity-onset diabetes of the young [HPO term]
- Monochromacy [HPO term]
- Optic disc pallor [HPO term]
- Pallor [HPO term]
- Progressive cone dystrophy [HPO term]
ORDO concept(s)
- Retinohepatoendocrinologic syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Retinohepatoendocrinologic syndrome [ORDO Disease]
- Retinohepatoendocrinologic syndrome (disorder) [SNOMED CT concept]
- retinohepatoendocrinologic syndrome [MeSH Supplementary Concept]
- retinohepatoendocrinologic syndrome [MeSH concept]

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