hypomaturation amelogenesis imperfecta (Q56013659)

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human disease

• Amelogenesis imperfecta type 2

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Language	Label	Description	Also known as
English	hypomaturation amelogenesis imperfecta	human disease	Amelogenesis imperfecta type 2

Statements

instance of

class of disease

0 references

subclass of

amelogenesis imperfecta

0 references

genetic association

AMELX

1 reference

stated in

Open Targets Platform

retrieved

24 August 2023

reference URL

https://platform.opentargets.org/evidence/ENSG00000125363/Orphanet_100033

based on heuristic

inferred from an Open Targets association score over 0.7

MMP20

1 reference

stated in

Open Targets Platform

retrieved

24 August 2023

reference URL

https://platform.opentargets.org/evidence/ENSG00000137674/Orphanet_100033

based on heuristic

inferred from an Open Targets association score over 0.7

WDR72

1 reference

stated in

Open Targets Platform

retrieved

24 August 2023

reference URL

https://platform.opentargets.org/evidence/ENSG00000166415/Orphanet_100033

based on heuristic

inferred from an Open Targets association score over 0.7

ICD-9-CM

520.5

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

7 August 2018

Mondo ID

MONDO_0015048

exact match

http://www.orpha.net/ORDO/Orphanet_100033

0 references

Identifiers

MeSH descriptor ID

C536606

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

7 August 2018

Mondo ID

MONDO_0015048

GARD rare disease ID

8349

1 reference

stated in

Genetic and Rare Diseases Information Center

retrieved

1 April 2019

ICD-10-CM

K00.5

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

7 August 2018

Mondo ID

MONDO_0015048

Mondo ID

MONDO_0015048

0 references

Orphanet ID

100033

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

7 August 2018

Mondo ID

MONDO_0015048

UMLS CUI

C0399372

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

7 August 2018

Mondo ID

MONDO_0015048

 

Sitelinks

Wikipedia(0 entries)

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Wikibooks(0 entries)

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Wikinews(0 entries)

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Wikiquote(0 entries)

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Wikisource(0 entries)

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Wikiversity(0 entries)

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Wikivoyage(0 entries)

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Wiktionary(0 entries)

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Multilingual sites(0 entries)

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