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Kahrizi syndrome

http://purl.obolibrary.org/obo/DOID_0050807

A syndrome that is characterized by mental retardation, cataracts, coloboma, kyphosis, and coarse facial features and has_material_basis_in mutation in the SRD5A3 gene. [ http://purl.obolibrary.org/obo/ECO_0007636 ]

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Term info

Label

Kahrizi syndrome

Synonyms

KHRZ
intellectual disability, Kahrizi type
intellectual disability-cataract-coloboma-kyphosis syndrome

database cross reference

created by

lschriml

creation date

2013-12-02T02:28:58Z

has obo namespace

disease_ontology

DOID:0050807

Term relations

Subclass of:

autosomal recessive disease
syndrome
has material basis in some autosomal recessive inheritance