(Q9390284)

English

Netherton syndrome

Human disease

NETH
NETHERTON SYNDROME
ComC(l-Netherton syndrome
Bamboo hair syndrome
Ns
Comel-Netherton Syndrome
Comèl-Netherton syndrome
Netherton Disease
Erythroderma, Ichthyosiform, With Hypotrichosis and Hyper-Ige
NETHERTON SYNDROME; NETH

In more languages

Statements

0 references

class of disease

0 references

autosomal recessive disease

1 reference

Disease Ontology

23 November 2021

Disease Ontology ID

0 references

1 reference

Disease Ontology

23 November 2021

Disease Ontology ID

health specialty

medical genetics

0 references

symptoms and signs

Trichorrhexis invaginata

0 references

1 reference

Disease Ontology

30 November 2020

Disease Ontology ID

genetic association

3 references

UniProt protein ID

13 August 2019

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

based on heuristic

inferred from an Open Targets association score over 0.7

on focus list of Wikimedia project

WikiProject Medicine

0 references

NCI Thesaurus ID

C84922

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

6 August 2018

http://purl.obolibrary.org/obo/DOID_0050474

1 reference

Disease Ontology

23 November 2021

Disease Ontology ID

http://identifiers.org/doid/DOID:0050474

1 reference

Identifiers.org

https://registry.identifiers.org/registry/doid

http://www.orpha.net/ORDO/Orphanet_634

0 references

Identifiers

MeSH descriptor ID

mapping relation type

subject named as

Netherton Syndrome

1 reference

Monarch Disease Ontology release 2018-06-29

6 August 2018

C16.131.077.619

0 references

C16.131.831.512.400.705

0 references

C16.320.850.673

0 references

C16.614.492.400.705

0 references

C17.800.428.333.250.705

0 references

C17.800.804.512.400.705

0 references

C17.800.827.655

0 references

0 references

1 reference

Disease Ontology ID

1 reference

Disease Ontology

23 November 2021

Disease Ontology ID

1 reference

imported from Wikimedia project

English Wikipedia

1 reference

imported from Wikimedia project

English Wikipedia

GARD rare disease ID

2 references

Monarch Disease Ontology release 2018-06-29

6 August 2018

Disease Ontology

28 August 2019

Disease Ontology ID

Genetics Home Reference Conditions ID

netherton-syndrome

0 references

1 reference

imported from Wikimedia project

English Wikipedia

1 reference

Monarch Disease Ontology release 2018-06-29

6 August 2018

ICD-11 (foundation)

0 references

1 reference

imported from Wikimedia project

English Wikipedia

Medical Dictionary for Regulatory Activities ID

1 reference

https://cdn.who.int/media/docs/default-source/classification/icd/icd-10/icd-10-to-meddra-map---june-2023---codes-mapping.xlsx

based on heuristic

inferred by common ICD-10 mappings on Wikidata and on source

Microsoft Academic ID

0 references

0 references

1 reference

Disease Ontology

28 August 2019

Disease Ontology ID

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

6 August 2018

1 reference

Disease Ontology

28 August 2019

Disease Ontology ID

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

6 August 2018

1 reference

imported from Wikimedia project

English Wikipedia

Wikimedia import URL

https://en.wikipedia.org/w/index.php?title=Netherton_syndrome&oldid=950318836

1 reference

Disease Ontology

28 August 2019

Disease Ontology ID

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

6 August 2018

1 reference

based on heuristic

inferred by common MeSH mappings on source and on Wikidata

25 May 2023

UniProt disease ID

0 references

WikiProjectMed ID

Netherton syndrome

0 references

Sitelinks

Wikipedia(7 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

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