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spastic paraplegia-severe developmental delay-epilepsy syndrome

human disease
MedicalCondition developmental_defect_during_embryogenesis Q55345905
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spastic paraplegia-severe developmental delay-epilepsy syndrome

Summary

spastic paraplegia-severe developmental delay-epilepsy syndrome is a developmental defect during embryogenesis[1].

Key Facts

  • spastic paraplegia-severe developmental delay-epilepsy syndrome's instance of is recorded as developmental defect during embryogenesis[2].
  • spastic paraplegia-severe developmental delay-epilepsy syndrome's instance of is recorded as rare disease[3].
  • spastic paraplegia-severe developmental delay-epilepsy syndrome's instance of is recorded as class of disease[4].
  • spastic paraplegia-severe developmental delay-epilepsy syndrome's subclass of is recorded as autosomal recessive complex spastic paraplegia[5].
  • spastic paraplegia-severe developmental delay-epilepsy syndrome's subclass of is recorded as monogenic disease with epilepsy[6].
  • spastic paraplegia-severe developmental delay-epilepsy syndrome's subclass of is recorded as genetic syndromic intellectual disability[7].
  • spastic paraplegia-severe developmental delay-epilepsy syndrome's subclass of is recorded as multiple congenital anomalies/dysmorphic syndrome-intellectual disability[8].
  • spastic paraplegia-severe developmental delay-epilepsy syndrome's OMIM ID is recorded as 616756[9].
  • spastic paraplegia-severe developmental delay-epilepsy syndrome's KEGG ID is recorded as H02293[10].
  • spastic paraplegia-severe developmental delay-epilepsy syndrome's Orphanet ID is recorded as 464282[11].
  • spastic paraplegia-severe developmental delay-epilepsy syndrome's genetic association is recorded as HACE1[12].
  • spastic paraplegia-severe developmental delay-epilepsy syndrome's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_464282[13].
  • spastic paraplegia-severe developmental delay-epilepsy syndrome's UMLS CUI is recorded as C4225215[14].
  • spastic paraplegia-severe developmental delay-epilepsy syndrome's UMLS CUI is recorded as C5568869[15].
  • spastic paraplegia-severe developmental delay-epilepsy syndrome's Mondo ID is recorded as MONDO_0014764[16].
  • spastic paraplegia-severe developmental delay-epilepsy syndrome's UniProt disease ID is recorded as DI-04637[17].

References

Programmatic citations — every numbered marker resolves to a verifiable graph row below.

Direct Wikidata claims

  1. [2] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  2. [3] ↑ . wikidata.org.
  3. [4] ↑ . wikidata.org.
  4. [5] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  5. [6] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  6. [7] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  7. [8] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  8. [9] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  9. [10] ↑ . wikidata.org.
  10. [11] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  11. [12] ↑ . Q905695. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  12. [13] ↑ . wikidata.org.
  13. [14] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  14. [15] ↑ . UMLS 2023. Retrieved . wikidata.org.
  15. [16] ↑ . wikidata.org.
  16. [17] ↑ . wikidata.org.

Class ancestry

  1. [1] ↑ . Wikidata. wikidata.org.

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APA 4ort.xyz Knowledge Graph. (2026). spastic paraplegia-severe developmental delay-epilepsy syndrome. Retrieved May 3, 2026, from https://4ort.xyz/entity/spastic-paraplegia-severe-developmental-delay-epilepsy-syndrome
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BibTeX @misc{4ortxyz_spastic-paraplegia-severe-developmental-delay-epilepsy-syndrome_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{spastic paraplegia-severe developmental delay-epilepsy syndrome}}, year = {2026}, url = {https://4ort.xyz/entity/spastic-paraplegia-severe-developmental-delay-epilepsy-syndrome}, note = {Accessed: 2026-05-03}}
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