Senior-loken syndrome 5

Preferred Label : Senior-loken syndrome 5;

Symbol : SLSN5;

CISMeF acronym : SLSN5;

Type : Phenotype, molecular basis known;

Description : Senior-Loken syndrome is an autosomal recessive disorder with the main features of nephronophthisis (NPHP; see 256100) and Leber congenital amaurosis (LCA; see 204000).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the IQ motif-containing protein B1 gene (IQCB1, 609237.0001);

Prefixed ID : #609254;

Details

Origin ID

609254;

UMLS CUI

C1836517;

Automatic exact mappings (from CISMeF team)
- IQ motif containing B1 [ORDO Gene]
- IQ motif containing B1 [HGNC gene]
Broader ORDO disease(s)
- Senior-Loken syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Senior-Loken syndrome 5 [MeSH concept]
- Senior-Loken syndrome 5 [MeSH Supplementary Concept]
DO Cross reference
- Senior-Loken syndrome [DO Concept]
Genes related to phenotype
- Iq motif-containing protein b1 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Heterogeneous [HPO term]
- Nephronophthisis [HPO term]
- Rod-cone dystrophy [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 5 [MeSH Supplementary Concept]
- Senior-Loken syndrome 5 [MeSH concept]
Validated automatic mappings to NTBT
- Senior-Loken syndrome [DO Concept]

Keyword's position in hierarchy(ies) :

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