Senior-loken syndrome 6

Preferred Label : Senior-loken syndrome 6;

Symbol : SLSN6;

CISMeF acronym : SLSN6;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the 290-kD centrosomal protein gene (CEP290, 610142.0004).;

Prefixed ID : #610189;

Détails

Origin ID

610189;

UMLS CUI

C1857779;

Automatic exact mappings (from CISMeF team)
- centrosomal protein 290 [ORDO Gene]
- centrosomal protein 290 [HGNC gene]
Broader ORDO disease(s)
- Senior-Loken syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Senior-Loken syndrome 6 [MeSH concept]
- Senior-Loken syndrome 6 [MeSH Supplementary Concept]
DO Cross reference
- Senior-Loken syndrome [DO Concept]
Genes related to phenotype
- Centrosomal protein, 290-kd [OMIM gene]
HPO term(s)
- Abnormality of the nervous system [HPO term]
- Autosomal recessive inheritance [HPO term]
- Reduced visual acuity [HPO term]
- Rod-cone dystrophy [HPO term]
- Stage 5 chronic kidney disease [HPO term]
- Visual impairment [HPO term]
- obsolete Tapetoretinal degeneration [HPO term]
Not associated HPO term(s)
- Aplasia/Hypoplasia of the cerebellar vermis [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 6 [MeSH Supplementary Concept]
- Senior-Loken syndrome 6 [MeSH concept]
Validated automatic mappings to NTBT
- Senior-Loken syndrome [DO Concept]

Position du mot-clé dans l'(les) arborescence(s) :

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