Senior-loken syndrome 4

Preferred Label : Senior-loken syndrome 4;

Symbol : SLSN4;

CISMeF acronym : SLSN4;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the nephrocystin 4 gene (NPHP4, 607215.0006);

Prefixed ID : #606996;

Details

Origin ID

606996;

UMLS CUI

C1846979;

Automatic exact mappings (from CISMeF team)
- nephrocystin 4 [ORDO Gene]
- nephrocystin 4 [HGNC gene]
Broader ORDO disease(s)
- Senior-Loken syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Senior-Loken syndrome 4 [MeSH concept]
- Senior-Loken syndrome 4 [MeSH Supplementary Concept]
DO Cross reference
- Senior-Loken syndrome [DO Concept]
Genes related to phenotype
- Nephrocystin 4 [OMIM gene]
HPO term(s)
- Amblyopia [HPO term]
- Anemia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Heterogeneous [HPO term]
- Nephronophthisis [HPO term]
- Polydipsia [HPO term]
- Polyuria [HPO term]
- Rod-cone dystrophy [HPO term]
- Rotary nystagmus [HPO term]
- Severely reduced visual acuity [HPO term]
- Stage 5 chronic kidney disease [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 4 [MeSH Supplementary Concept]
- Senior-Loken syndrome 4 [MeSH concept]
Validated automatic mappings to NTBT
- Senior-Loken syndrome [DO Concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients