(Q50349586)

English

Seckel syndrome 2

Seckel syndrome that has material basis in homozygous mutation in the RBBP8 gene on chromosome 18q11

Seckel-type dwarfism 2
microcephalic primordial dwarfism 2
SCKL2
SECKEL SYNDROME 2; SCKL2
SECKEL SYNDROME 2
Seckel Syndrome type 2

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Statements

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class of disease

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Seckel syndrome

1 reference

Disease Ontology

30 November 2020

Disease Ontology ID

genetic association

2 references

UniProt protein ID

13 August 2019

CtIP Mutations Cause Seckel and Jawad Syndromes

on focus list of Wikimedia project

WikiProject Medicine

0 references

http://purl.obolibrary.org/obo/DOID_0070013

1 reference

Disease Ontology

30 November 2020

Disease Ontology ID

http://identifiers.org/doid/DOID:0070013

1 reference

Identifiers.org

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

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

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Identifiers

MeSH descriptor ID

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

6 August 2018

Disease Ontology ID

1 reference

Disease Ontology

30 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

6 August 2018

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

6 August 2018

UniProt disease ID

0 references

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