(Q55784785)

English

diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome

human disease

MSCCA
MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLAR ATROPHY; MSCCA
MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLAR ATROPHY

In more languages

Statements

developmental defect during embryogenesis

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

class of disease

0 references

cerebral malformation with epilepsy

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

syndrome with microcephaly as major feature

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

genetic association

5 references

UniProt protein ID

13 August 2019

Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures

25 February 2022

https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6b0cbc0e-c97c-4f6d-a351-0ac23a4ba8a5-2020-05-26T150033.131Z

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000172053/MONDO_0014335

based on heuristic

inferred from an Open Targets association score over 0.7

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000172053/Orphanet_404437

based on heuristic

inferred from an Open Targets association score over 0.7

http://www.orpha.net/ORDO/Orphanet_404437

0 references

Identifiers

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

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

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

1 reference

based on heuristic

inferred by common Orphanet mappings on source and on Wikidata

16 June 2023

UniProt disease ID

0 references

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

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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