Kahrizi syndrome
autosomal recessive disease that is characterized by mental retardation, cataracts, coloboma, kyphosis, and coarse facial features and has material basis in mutation in the SRD5A3 gene
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Kahrizi syndrome
Summary
Kahrizi syndrome is a rare disease[1].
Key Facts
- Kahrizi syndrome's instance of is recorded as rare disease[2].
- Kahrizi syndrome's instance of is recorded as class of disease[3].
- Kahrizi syndrome's subclass of is recorded as autosomal recessive disease[4].
- Kahrizi syndrome's subclass of is recorded as syndrome[5].
- Kahrizi syndrome's MeSH descriptor ID is recorded as C567196[6].
- Kahrizi syndrome's OMIM ID is recorded as 612713[7].
- Kahrizi syndrome's Disease Ontology ID is recorded as DOID:0050807[8].
- Kahrizi syndrome's Orphanet ID is recorded as 168972[9].
- Kahrizi syndrome's genetic association is recorded as SRD5A3[10].
- Kahrizi syndrome's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0050807[11].
- Kahrizi syndrome's exact match is recorded as http://identifiers.org/doid/DOID:0050807[12].
- Kahrizi syndrome's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_168972[13].
- Kahrizi syndrome's UMLS CUI is recorded as C2675185[14].
- Kahrizi syndrome's on focus list of Wikimedia project is recorded as WikiProject Medicine[15].
- Kahrizi syndrome's Mondo ID is recorded as MONDO_0012991[16].
- Kahrizi syndrome's UniProt disease ID is recorded as DI-03364[17].