adenosine monophosphate deaminase deficiency (Q1956662)

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medical condition

• ERYTHROCYTE AMP DEAMINASE DEFICIENCY
• AMP deaminase deficiency
• Myoadenylate deaminase deficiency

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Language	Label	Description	Also known as
English	adenosine monophosphate deaminase deficiency	medical condition	ERYTHROCYTE AMP DEAMINASE DEFICIENCY AMP deaminase deficiency Myoadenylate deaminase deficiency

Statements

instance of

rare disease

0 references

class of disease

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subclass of

inherited metabolic disorder

0 references

genetic association

AMPD1

1 reference

stated in

Molecular basis of AMP deaminase deficiency in skeletal muscle

ICD-9-CM

277.2

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

28 July 2018

Mondo ID

MONDO_0013028

exact match

http://www.orpha.net/ORDO/Orphanet_45

0 references

Commons category

Adenosine monophosphate deaminase deficiency type 1

0 references

Identifiers

MeSH descriptor ID

C538234

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

28 July 2018

Mondo ID

MONDO_0013028

KEGG ID

H02237

0 references

ICD-10-CM

G71.3

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

28 July 2018

Mondo ID

MONDO_0013028

Mondo ID

MONDO_0013028

0 references

OMIM ID

612874

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

28 July 2018

Mondo ID

MONDO_0013028

Orphanet ID

45

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

28 July 2018

Mondo ID

MONDO_0013028

UMLS CUI

C2752073

mapping relation type

close match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

28 July 2018

Mondo ID

MONDO_0013028

C0268123

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

28 July 2018

Mondo ID

MONDO_0013028

C2931781

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

28 July 2018

Mondo ID

MONDO_0013028

UniProt disease ID

DI-00038

0 references

WikiProjectMed ID

Adenosine monophosphate deaminase deficiency type 1

0 references

 

Sitelinks

Wikipedia(2 entries)

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• dewiki Myoadenylatdesaminase-Mangel
• enwiki Adenosine monophosphate deaminase deficiency type 1

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(1 entry)

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• commonswiki Category:Adenosine monophosphate deaminase deficiency type 1

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