Kahrizi syndrome

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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

Eksteraj rimedoj

UMLS CUI	C2675185^[1] speco de bildiga rilato: ekzakta ekvivalento
identigilo laŭ MeSH	C567196^[1] speco de bildiga rilato: ekzakta ekvivalento
identigilo laŭ Reta Mendela Heredo je Homoj	612713^[2]
UniProt disease ID	DI-03364
numero en Orpha.net	168972^[1] speco de bildiga rilato: proksima kongruaĵo
identigilo de Disease Ontology	DOID:0050807^[3]
numero en Monarch Disease Ontology	MONDO_0012991

estas

malofta malsano

malsano

subaro de

aŭtosoma recesiva malsano^[1]^[3]

sindromo^[3]

rilato al geno

SRD5A3^[4]^[5]^[6]

en fokuslisto de Vikimedia projekto

VikiProjekto:Medicino

plene kongruas kun

http://purl.obolibrary.org/obo/DOID_0050807^[3]

http://identifiers.org/doid/DOID:0050807^[7]

http://www.orpha.net/ORDO/Orphanet_168972

Referenco

↑ ^1,0 ^1,1 ^1,2 ^1,3 Monarch Disease Ontology release 2018-06-29, 28 jul. 2018, MONDO_0012991
↑ Disease Ontology, 28 aŭg. 2019, DOID:0050807
↑ ^3,0 ^3,1 ^3,2 ^3,3 Disease Ontology, 29 nov. 2020, DOID:0050807
↑ Q9H8P0, 13 aŭg. 2019, UniProt
↑ Next generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3
↑ Open Targets Platform, 24 aŭg. 2023, https://platform.opentargets.org/evidence/ENSG00000128039/MONDO_0012991, inferred from an Open Targets association score over 0.7
↑ Identifiers.org, https://registry.identifiers.org/registry/doid

[r8abc602e-1] 1,0 ^1,1 ^1,2 ^1,3 Monarch Disease Ontology release 2018-06-29, 28 jul. 2018, MONDO_0012991

[re9f3c5bf-2] Disease Ontology, 28 aŭg. 2019, DOID:0050807

[r44c53da4-3] 3,0 ^3,1 ^3,2 ^3,3 Disease Ontology, 29 nov. 2020, DOID:0050807

[rfc4a226f-4] Q9H8P0, 13 aŭg. 2019, UniProt

[r08ac3577-5] Next generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3

[r2e23a2e7-6] Open Targets Platform, 24 aŭg. 2023, https://platform.opentargets.org/evidence/ENSG00000128039/MONDO_0012991, inferred from an Open Targets association score over 0.7

[raccfa3a2-7] Identifiers.org, https://registry.identifiers.org/registry/doid

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