Focal segmental glomerulosclerosis 9

Preferred Label : Focal segmental glomerulosclerosis 9;

Symbol : FSGS9;

CISMeF acronym : FSGS9;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Glomerulosclerosis, focal segmental, 9;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the crumbs cell polarity complex component 2 (CRB2, 609720.0001);

Prefixed ID : #616220;

Details

Origin ID

616220;

UMLS CUI

C4015555;

CISMeF manual mappings
- focal segmental glomerulosclerosis 9 [DO Concept]
DO Cross reference
- focal segmental glomerulosclerosis 9 [DO Concept]
Genes related to phenotype
- Crumbs cell polarity complex component 2 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Focal segmental glomerulosclerosis [HPO term]
- Nephrotic syndrome [HPO term]
ORDO concept(s)
- Genetic steroid-resistant nephrotic syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- focal segmental glomerulosclerosis 9 [DO Concept]

Keyword's position in hierarchy(ies) :

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