| Metadata | |
|---|---|
| ID | DOID:0050807 |
| Name | Kahrizi syndrome |
| Definition | 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://omim.org/entry/612713?search=Kahrizi%20syndrome&highlight=syndromic%20kahrizi%20syndrome, http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=168972 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
intellectual disability, Kahrizi type [EXACT] intellectual disability-cataract-coloboma-kyphosis syndrome [EXACT] KHRZ [EXACT] |
| Parent Relationships |
is_a syndrome |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |