Preferred Name

DIAMOND-BLACKFAN ANEMIA 10

Synonyms

DBA10

ID

http://purl.bioontology.org/ontology/OMIM/613309

altLabel

DBA10

cui

C2750080

Gene Locus

12q

Gene Symbol

DBA10

RPS26

Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU009001

http://purl.bioontology.org/ontology/OMIM/MTHU060135

http://purl.bioontology.org/ontology/OMIM/MTHU021641

http://purl.bioontology.org/ontology/OMIM/MTHU001184

http://purl.bioontology.org/ontology/OMIM/MTHU000231

http://purl.bioontology.org/ontology/OMIM/MTHU034883

http://purl.bioontology.org/ontology/OMIM/MTHU001436

http://purl.bioontology.org/ontology/OMIM/MTHU036345

http://purl.bioontology.org/ontology/OMIM/MTHU049839

http://purl.bioontology.org/ontology/OMIM/MTHU001720

http://purl.bioontology.org/ontology/OMIM/MTHU036357

http://purl.bioontology.org/ontology/OMIM/MTHU036653

http://purl.bioontology.org/ontology/OMIM/MTHU000145

http://purl.bioontology.org/ontology/OMIM/MTHU001150

http://purl.bioontology.org/ontology/OMIM/MTHU009000

http://purl.bioontology.org/ontology/OMIM/MTHU053646

http://purl.bioontology.org/ontology/OMIM/MTHU000511

http://purl.bioontology.org/ontology/OMIM/MTHU038284

http://purl.bioontology.org/ontology/OMIM/MTHU000576

http://purl.bioontology.org/ontology/OMIM/MTHU050523

http://purl.bioontology.org/ontology/OMIM/MTHU036549

http://purl.bioontology.org/ontology/OMIM/MTHU036338

http://purl.bioontology.org/ontology/OMIM/MTHU001158

http://purl.bioontology.org/ontology/OMIM/MTHU012400

MIMTYPEMEANING

Phenotype description, molecular basis known.

notation

613309

OMIM Entry Type

3

OMIM MimType Value

pound

prefLabel

DIAMOND-BLACKFAN ANEMIA 10

Scope Statement

Variable expressivity, even within families [MISCELLANEOUS]

Caused by mutation in the ribosomal protein S26 gene (RPS26, 603701.0001) [MOLECULAR BASIS]

Onset in infancy [MISCELLANEOUS]

tui

T047

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Delete Mapping To Ontology Source
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C176919 National Cancer Institute Thesaurus / 美国国家癌症研究所词典 LOOM
http://purl.obolibrary.org/obo/MONDO_0013217 Mondo Disease Ontology / Mondo疾病本体 LOOM
http://purl.obolibrary.org/obo/DOID_0111888 Human Disease Ontology / 人类疾病本体 LOOM
http://purl.bioontology.org/ontology/MESH/C567649 Medical Subject Headings / 医学主题词表 CUI
http://purl.bioontology.org/ontology/MESH/C567649 Medical Subject Headings / 医学主题词表 LOOM