(Q50349582)

English

Seckel syndrome 8

Seckel syndrome that has material basis in homozygous mutation in the DNA2 gene on chromosome 10q21

SCKL8
SECKEL SYNDROME 8; SCKL8
Seckel Syndrome type 8
SECKEL SYNDROME 8

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Statements

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class of disease

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Seckel syndrome

1 reference

Disease Ontology

29 November 2020

Disease Ontology ID

genetic association

2 references

UniProt protein ID

13 August 2019

Genomic analysis of primordial dwarfism reveals novel disease genes

on focus list of Wikimedia project

WikiProject Medicine

0 references

http://purl.obolibrary.org/obo/DOID_0070009

1 reference

Disease Ontology

29 November 2020

Disease Ontology ID

http://identifiers.org/doid/DOID:0070009

1 reference

Identifiers.org

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

http://www.orpha.net/ORDO/Orphanet_808

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Identifiers

Disease Ontology ID

1 reference

Disease Ontology

29 November 2020

Disease Ontology ID

0 references

1 reference

Disease Ontology

28 August 2019

Disease Ontology ID

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

7 August 2018

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

7 August 2018

UniProt disease ID

0 references

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Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

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Wiktionary(0 entries)

Multilingual sites(0 entries)

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