(Q55784951)

English

progressive microcephaly-seizures-cortical blindness-developmental delay syndrome

human disease

Seizures, Cortical Blindness, Microcephaly Syndrome
SCBMS

In more languages

default values for all languages

No label defined

No description defined

Statements

developmental defect during embryogenesis

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

class of disease

0 references

syndrome with microcephaly as major feature

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

nervous system anomaly with eye involvement

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

genetic association

3 references

UniProt protein ID

13 August 2019

Homozygous loss of DIAPH1 is a novel cause of microcephaly in humans

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000131504/MONDO_0014714

based on heuristic

inferred from an Open Targets association score over 0.7

http://www.orpha.net/ORDO/Orphanet_477814

0 references

Identifiers

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)

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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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