spastic paraplegia-severe developmental delay-epilepsy syndrome (Q55345905)

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human disease

• Spastic paraplegia-psychomotor retardation-seizures syndrome
• SPPRS syndrome

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Language	Label	Description	Also known as
English	spastic paraplegia-severe developmental delay-epilepsy syndrome	human disease	Spastic paraplegia-psychomotor retardation-seizures syndrome SPPRS syndrome

Statements

instance of

developmental defect during embryogenesis

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

28 July 2018

Mondo ID

MONDO_0014764

rare disease

0 references

class of disease

0 references

subclass of

autosomal recessive complex spastic paraplegia

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

3 July 2018

Mondo ID

MONDO_0014764

monogenic disease with epilepsy

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

28 July 2018

Mondo ID

MONDO_0014764

genetic syndromic intellectual disability

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

28 July 2018

Mondo ID

MONDO_0014764

multiple congenital anomalies/dysmorphic syndrome-intellectual disability

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

28 July 2018

Mondo ID

MONDO_0014764

genetic association

HACE1

2 references

stated in

UniProt

UniProt protein ID

Q8IYU2

retrieved

13 August 2019

stated in

Open Targets Platform

retrieved

24 August 2023

reference URL

https://platform.opentargets.org/evidence/ENSG00000085382/MONDO_0014764

based on heuristic

inferred from an Open Targets association score over 0.7

exact match

http://www.orpha.net/ORDO/Orphanet_464282

0 references

Identifiers

KEGG ID

H02293

0 references

Mondo ID

MONDO_0014764

0 references

OMIM ID

616756

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

3 July 2018

Mondo ID

MONDO_0014764

Orphanet ID

464282

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

3 July 2018

Mondo ID

MONDO_0014764

UMLS CUI

C4225215

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

3 July 2018

Mondo ID

MONDO_0014764

C5568869

1 reference

based on heuristic

inferred by common Orphanet mappings on source and on Wikidata

stated in

UMLS 2023

retrieved

16 June 2023

UniProt disease ID

DI-04637

0 references

 

Sitelinks

Wikipedia(0 entries)

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Wikibooks(0 entries)

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Wikinews(0 entries)

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Wikiquote(0 entries)

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Wikisource(0 entries)

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Wikiversity(0 entries)

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Wikivoyage(0 entries)

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Wiktionary(0 entries)

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Multilingual sites(0 entries)

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Retrieved from "https://www.wikidata.org/w/index.php?title=Q55345905&oldid=2087319424"