(Q47197007)

English

metatropic dysplasia

metatropic dwarfism

METATROPIC DYSPLASIA
metatropic dwarfism
metatropic dysplasia, nonlethal dominant

In more languages

Statements

developmental defect during embryogenesis

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

class of disease

0 references

spondyloepimetaphyseal dysplasia

1 reference

Disease Ontology

30 November 2020

Disease Ontology ID

TRPV4-related bone disorder

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

autosomal dominant disease

1 reference

Disease Ontology

30 November 2020

Disease Ontology ID

genetic association

5 references

UniProt protein ID

13 August 2019

Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia

9 December 2020

https://search.clinicalgenome.org/kb/gene-validity/70f8ac2b-5570-4672-b0ee-2f3a342ccd44--2020-12-08T17:00:00

25 January 2022

https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_70f8ac2b-5570-4672-b0ee-2f3a342ccd44-2020-12-08T170000.000Z

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000111199/MONDO_0007986

based on heuristic

inferred from an Open Targets association score over 0.7

NCI Thesaurus ID

C175209

mapping relation type

0 references

http://www.orpha.net/ORDO/Orphanet_2635

0 references

http://purl.obolibrary.org/obo/DOID_0111514

1 reference

Disease Ontology

30 November 2020

Disease Ontology ID

http://identifiers.org/doid/DOID:0111514

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

0 references

Disease Ontology ID

1 reference

Disease Ontology

30 November 2020

Disease Ontology ID

GARD rare disease ID

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

ICD-11 (foundation)

0 references

0 references

mapping relation type

1 reference

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

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

UniProt disease ID

0 references

Sitelinks

Wikipedia(2 entries)

dewiki Metatropische Dysplasie
eswiki Displasia metatrópica

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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