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(Q19833018)
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English
autosomal dominant sideroblastic anemia
sideroblastic anemia characterized by an autosomal dominant inheritance pattern
sideroblastic anemia, autosomal dominant
ANEMIA, SIDEROBLASTIC, AUTOSOMAL DOMINANT
autosomal dominant sideroblastic anemia 4
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Statements
instance of
rare disease
0 references
class of disease
0 references
subclass of
Hereditary sideroblastic anemia
0 references
autosomal dominant disease
1 reference
stated in
Disease Ontology
retrieved
18 January 2022
Disease Ontology ID
DOID:0060335
sideroblastic anaemia P
1 reference
stated in
Disease Ontology
retrieved
18 January 2022
Disease Ontology ID
DOID:0060335
mode of inheritance
autosomal dominant
0 references
genetic association
HSPA9
2 references
stated in
UniProt
UniProt protein ID
P38646
retrieved
13 August 2019
stated in
Congenital sideroblastic anemia due to mutations in the mitochondrial HSP70 homologue HSPA9.
on focus list of Wikimedia project
WikiProject Medicine
0 references
exact match
http://purl.obolibrary.org/obo/DOID_0060335
1 reference
stated in
Disease Ontology
retrieved
18 January 2022
Disease Ontology ID
DOID:0060335
http://identifiers.org/doid/DOID:0060335
1 reference
stated in
Identifiers.org
reference URL
https://registry.identifiers.org/registry/doid
Identifiers
MeSH descriptor ID
C567160
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0008422
Disease Ontology ID
DOID:0060335
1 reference
stated in
Disease Ontology
retrieved
18 January 2022
Disease Ontology ID
DOID:0060335
Mondo ID
MONDO_0008422
0 references
OMIM ID
182170
1 reference
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0060335
UMLS CUI
C2674249
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0008422
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