Preferred Label : Kahrizi syndrome;
Symbol : KHRZ;
CISMeF acronym : KHRZ;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Mental retardation, cataract, coloboma, and kyphosis, autosomal recessive;
Description : Kahrizi syndrome is an autosomal recessive neurodevelopmental disorder characterized
by mental retardation, cataracts, coloboma, kyphosis, and coarse facial features (summary
by Kahrizi et al., 2009). See also congenital disorder of glycosylation type Iq (CDG1Q;
612379), an allelic disorder with overlapping features.;
Inheritance : Autosomal recessive;
Molecular basis : Caused by mutation in the steroid 5-alpha-reductase 3 gene (SRD5A3, 611715.0006).;
Prefixed ID : #612713;
Origin ID : 612713;
UMLS CUI : C2675185;
Automatic exact mappings (from CISMeF team)
Currated CISMeF NLP mapping
DO Cross reference
Genes related to phenotype
HPO term(s)
ORDO concept(s)
Semantic type(s)
UMLS correspondences (same concept)