Senior-loken syndrome 3

Preferred Label : Senior-loken syndrome 3;

Symbol : SLSN3;

CISMeF acronym : SLSN3;

Type : Phenotype or locus, molecular basis unknown;

Description : For a phenotypic description and a discussion of genetic heterogeneity of Senior-Loken syndrome, see 266900.;

Inheritance : Autosomal recessive;

Prefixed ID : %606995;

Details

Origin ID

606995;

UMLS CUI

C1846980;

Automatic exact mappings (from CISMeF team)
- nephrocystin 3 [ORDO Gene]
- nephrocystin 3 [HGNC gene]
Broader ORDO disease(s)
- Senior-Loken syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Senior-Loken syndrome 3 [MeSH concept]
- Senior-Loken syndrome 3 [MeSH Supplementary Concept]
DO Cross reference
- Senior-Loken syndrome [DO Concept]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Congenital blindness [HPO term]
- Enuresis [HPO term]
- Nephronophthisis [HPO term]
- Nystagmus [HPO term]
- Polydipsia [HPO term]
- Polyuria [HPO term]
- Renal corticomedullary cysts [HPO term]
- Stage 5 chronic kidney disease [HPO term]
- Undetectable electroretinogram [HPO term]
- Visual loss [HPO term]
ORDO concept(s)
- Senior-Loken syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Senior-Loken syndrome 3 [MeSH Supplementary Concept]
- Senior-Loken syndrome 3 [MeSH concept]
Validated automatic mappings to NTBT
- Senior-Loken syndrome [DO Concept]

Keyword's position in hierarchy(ies) :

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