(Q5961451)

English

hypotrichosis–lymphedema–telangiectasia syndrome

human disease

HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME; HLTS
HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME
HLTS
hypotrichosis-lymphedema-telangiectasia syndrome

In more languages

Statements

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class of disease

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Primary lymphedema

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autosomal recessive disease

1 reference

Disease Ontology

30 November 2020

Disease Ontology ID

1 reference

Disease Ontology

30 November 2020

Disease Ontology ID

genetic association

1 reference

Mutations in the transcription factor gene SOX18 underlie recessive and dominant forms of hypotrichosis-lymphedema-telangiectasia

http://www.orpha.net/ORDO/Orphanet_69735

0 references

http://purl.obolibrary.org/obo/DOID_0111361

1 reference

Disease Ontology

30 November 2020

Disease Ontology ID

http://identifiers.org/doid/DOID:0111361

1 reference

Identifiers.org

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

Identifiers

MeSH descriptor ID

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

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Disease Ontology ID

1 reference

Disease Ontology

30 November 2020

Disease Ontology ID

GARD rare disease ID

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Microsoft Academic ID

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mapping relation type

2 references

imported from Wikimedia project

English Wikipedia

Monarch Disease Ontology release 2018-06-29

28 July 2018

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

UniProt disease ID

0 references

Sitelinks

Wikipedia(2 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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