Netherton syndrome

See on automaatne vaade, mis põhineb projekti Vikiandmed andmetel.
Artiklit veel pole, kuid saad aidata seda luua.

Human disease

Välised allikad

WikiProjectMed ID	Netherton syndrome
Genetics Home Reference Conditions ID	netherton-syndrome
SNOMED CT ID	312514006
MeSH tree code	C16.131.077.619 C16.131.831.512.400.705 C16.320.850.673 C16.614.492.400.705 C17.800.428.333.250.705 C17.800.804.512.400.705 C17.800.827.655
DiseasesDB	30791
Microsoft Academic ID	2778011771
eMedicine ID	1071656
KEGG ID	H00671
UMLS CUI	C0265962^[1] C0265962^[2] mapping relation type: close match C5574950^[3]
BabelNet ID	00346902n^[4]
GARD rare disease ID	7182^[2]^[1]
UniProt disease ID	DI-00809
MeSH descriptor ID	D056770^[2] teema nimetus kujul: Netherton Syndrome mapping relation type: täpne vaste
ICD-10	Q80.8
ICD-11 (foundation)	1797493665
OMIM ID	256500^[1] 256500^[2] mapping relation type: täpne vaste
ICD-10-CM	Q80.8^[2]
ICD-9 ID	757.1
Orphanet ID	634^[1] 634^[2] mapping relation type: täpne vaste
Medical Dictionary for Regulatory Activities ID	10010511^[5]
Disease Ontology ID	DOID:0050474^[6]
Mondo ID	MONDO_0009735

rare disease

class of disease

autosomal recessive disease^[6]

ihtüoos

skin disease^[6]

medical genetics

Trichorrhexis invaginata

SPINK5^[8]^[9]^[10]

C84922^[2]

mapping relation type: täpne vaste

↑ ^1,0 ^1,1 ^1,2 ^1,3 Disease Ontology, 28. august 2019, DOID:0050474
↑ ^2,0 ^2,1 ^2,2 ^2,3 ^2,4 ^2,5 ^2,6 Monarch Disease Ontology release 2018-06-29, 6. august 2018, MONDO_0009735
↑ UMLS 2023, 25. mai 2023, inferred by common MeSH mappings on source and on Wikidata
↑ BabelNet
↑ inferred by common ICD-10 mappings on Wikidata and on source, https://cdn.who.int/media/docs/default-source/classification/icd/icd-10/icd-10-to-meddra-map---june-2023---codes-mapping.xlsx
↑ ^6,0 ^6,1 ^6,2 ^6,3 Disease Ontology, 23. november 2021, DOID:0050474
↑ Disease Ontology, 30. november 2020, DOID:0050474
↑ Q9NQ38, 13. august 2019, UniProt
↑ Mutations in SPINK5, encoding a serine protease inhibitor, cause Netherton syndrome
↑ Open Targets Platform, 24. august 2023, https://platform.opentargets.org/evidence/ENSG00000133710/MONDO_0009735, inferred from an Open Targets association score over 0.7
↑ Identifiers.org, https://registry.identifiers.org/registry/doid