(Q18553629)

English

pyridoxine-refractory autosomal recessive sideroblastic anemia

Human disease

autosomal recessive pyridoxine-refractory sideroblastic anemia 2
ANEMIA, SIDEROBLASTIC, PYRIDOXINE-REFRACTORY, AUTOSOMAL RECESSIVE

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Statements

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class of disease

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autosomal recessive sideroblastic anemia

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refractory anemia

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autosomal recessive disease

1 reference

Disease Ontology

25 November 2020

Disease Ontology ID

sideroblastic anaemia P

1 reference

Disease Ontology

25 November 2020

Disease Ontology ID

genetic association

2 references

UniProt protein ID

13 August 2019

Mutations in mitochondrial carrier family gene SLC25A38 cause nonsyndromic autosomal recessive congenital sideroblastic anemia

on focus list of Wikimedia project

WikiProject Medicine

0 references

http://purl.obolibrary.org/obo/DOID_0060065

1 reference

Disease Ontology

25 November 2020

Disease Ontology ID

http://identifiers.org/doid/DOID:0060065

1 reference

Identifiers.org

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

http://www.orpha.net/ORDO/Orphanet_255132

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http://www.orpha.net/ORDO/Orphanet_260305

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Identifiers

MeSH descriptor ID

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

Disease Ontology ID

1 reference

Disease Ontology

25 November 2020

Disease Ontology ID

GARD rare disease 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

28 July 2018

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Wiktionary(0 entries)

Multilingual sites(0 entries)

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