(Q55782505)

English

Diamond-Blackfan anemia 14 with mandibulofacial dysostosis

human disease

DBA14
DIAMOND-BLACKFAN ANEMIA 14 WITH MANDIBULOFACIAL DYSOSTOSIS
DIAMOND-BLACKFAN ANEMIA 14 WITH MANDIBULOFACIAL DYSOSTOSIS; DBA14

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No label defined

No description defined

Statements

head and neck disease

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

developmental defect during embryogenesis

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

class of disease

0 references

X-linked recessive disease

1 reference

Disease Ontology

30 November 2020

Disease Ontology ID

Diamond-Blackfan anemia

1 reference

Disease Ontology

29 November 2021

Disease Ontology ID

genetic association

2 references

UniProt protein ID

13 August 2019

Diamond-Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes TSR2 and RPS28

http://purl.obolibrary.org/obo/DOID_0111897

1 reference

Disease Ontology

29 November 2021

Disease Ontology ID

http://identifiers.org/doid/DOID:0111897

1 reference

Identifiers.org

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

Identifiers

Disease Ontology ID

1 reference

Disease Ontology

29 November 2021

Disease Ontology ID

0 references

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

UniProt disease ID

0 references

Sitelinks

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Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

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