Rhyns syndrome

Preferred Label : Rhyns syndrome;

Symbol : RHYNS;

CISMeF acronym : RHYNS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Retinitis pigmentosa, hypopituitarism, nephronophthisis, and mild skeletal dysplasia; Retinitis pigmentosa syndrome;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the transmembrane protein-67 gene (TMEM67, 609884.0026);

Prefixed ID : #602152;

Détails

Origin ID

602152;

UMLS CUI

C1865794;

Automatic exact mappings (from CISMeF team)
- Syndromic rod-cone dystrophy [ORDO Disease]
Currated CISMeF NLP mapping
- RHYNS syndrome [MeSH concept]
- RHYNS syndrome [MeSH Supplementary Concept]
- RHYNS syndrome [ORDO Disease]
- Retinitis pigmentosa - hypopituitarism - nephronophthisis - skeletal dysplasia [ICD-11 More detail]
- Retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia syndrome (disorder) [SNOMED CT concept]
Genes related to phenotype
- Transmembrane protein 67 [OMIM gene]
HPO term(s)
- Anterior hypopituitarism [HPO term]
- Autosomal recessive inheritance [HPO term]
- Brachydactyly [HPO term]
- Chronic kidney disease [HPO term]
- Conductive deafness [HPO term]
- Conductive hearing impairment [HPO term]
- Decreased response to growth hormone stimulation test [HPO term]
- Deeply set eye [HPO term]
- Delayed skeletal maturation [HPO term]
- Enophthalmos [HPO term]
- Exotropia [HPO term]
- Nephronophthisis [HPO term]
- Osteopenia [HPO term]
- Pituitary hypothyroidism [HPO term]
- Ptosis [HPO term]
- Radial bowing [HPO term]
- Renal insufficiency [HPO term]
- Rod-cone dystrophy [HPO term]
- Short femoral neck [HPO term]
- Short stature [HPO term]
- Skeletal dysplasia [HPO term]
- Thickened calvaria [HPO term]
ORDO concept(s)
- RHYNS syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- RHYNS syndrome [ORDO Disease]
- RHYNS syndrome [MeSH Supplementary Concept]
- RHYNS syndrome [MeSH concept]
- Retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia syndrome (disorder) [SNOMED CT concept]

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