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PHGDH deficiency, infantile/juvenile form

serine deficiency that has material basis in deficiency of phosphoglycerate dehydrogenase which results in a disruption of L-serine biosynthesis
MedicalCondition rare_disease Q18553426
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PHGDH deficiency, infantile/juvenile form

Summary

PHGDH deficiency, infantile/juvenile form is a rare disease[1].

Key Facts

  • PHGDH deficiency, infantile/juvenile form's instance of is recorded as rare disease[2].
  • PHGDH deficiency, infantile/juvenile form's instance of is recorded as class of disease[3].
  • PHGDH deficiency, infantile/juvenile form's subclass of is recorded as serine deficiency[4].
  • PHGDH deficiency, infantile/juvenile form's subclass of is recorded as 3-phosphoglycerate dehydrogenase deficiency[5].
  • PHGDH deficiency, infantile/juvenile form's subclass of is recorded as genetic syndromic intellectual disability[6].
  • PHGDH deficiency, infantile/juvenile form's MeSH descriptor ID is recorded as C566618[7].
  • PHGDH deficiency, infantile/juvenile form's OMIM ID is recorded as 601815[8].
  • PHGDH deficiency, infantile/juvenile form's Disease Ontology ID is recorded as DOID:0050722[9].
  • PHGDH deficiency, infantile/juvenile form's Orphanet ID is recorded as 79351[10].
  • PHGDH deficiency, infantile/juvenile form's genetic association is recorded as PHGDH[11].
  • PHGDH deficiency, infantile/juvenile form's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0050722[12].
  • PHGDH deficiency, infantile/juvenile form's exact match is recorded as http://identifiers.org/doid/DOID:0050722[13].
  • PHGDH deficiency, infantile/juvenile form's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_79351[14].
  • PHGDH deficiency, infantile/juvenile form's UMLS CUI is recorded as C1866174[15].
  • PHGDH deficiency, infantile/juvenile form's UMLS CUI is recorded as C0580190[16].
  • PHGDH deficiency, infantile/juvenile form's UMLS CUI is recorded as C5680205[17].
  • PHGDH deficiency, infantile/juvenile form's ICD-10-CM is recorded as E72.8[18].
  • PHGDH deficiency, infantile/juvenile form's on focus list of Wikimedia project is recorded as WikiProject Medicine[19].
  • PHGDH deficiency, infantile/juvenile form's Mondo ID is recorded as MONDO_0011152[20].
  • PHGDH deficiency, infantile/juvenile form's Genetics Home Reference Conditions ID is recorded as phosphoglycerate-dehydrogenase-deficiency[21].
  • PHGDH deficiency, infantile/juvenile form's UniProt disease ID is recorded as DI-02161[22].

References

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

Direct Wikidata claims

  1. [2] ↑ . wikidata.org.
  2. [3] ↑ . wikidata.org.
  3. [4] ↑ . Disease Ontology. Retrieved . 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] ↑ . Disease Ontology. Retrieved . wikidata.org.
  8. [9] ↑ . Disease Ontology. Retrieved . wikidata.org.
  9. [10] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  10. [11] ↑ . Q905695. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  11. [12] ↑ . Disease Ontology. Retrieved . wikidata.org.
  12. [13] ↑ . Identifiers.org. registry.identifiers.org. Provenance: wikidata.org.
  13. [14] ↑ . wikidata.org.
  14. [15] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  15. [16] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  16. [17] ↑ . UMLS 2023. Retrieved . wikidata.org.
  17. [18] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  18. [19] ↑ . wikidata.org.
  19. [20] ↑ . wikidata.org.
  20. [21] ↑ . wikidata.org.
  21. [22] ↑ . wikidata.org.

Class ancestry

  1. [1] ↑ . Wikidata. wikidata.org.

📑 Cite this page

Use these citations when quoting this entity in research, articles, AI prompts, or wherever provenance matters. We aggregate Wikidata + Wikipedia + authoritative open-data sources; the stitched, scored, cross-referenced view is what 4ort.xyz contributes.

APA 4ort.xyz Knowledge Graph. (2026). PHGDH deficiency, infantile/juvenile form. Retrieved May 3, 2026, from https://4ort.xyz/entity/phgdh-deficiency-infantile-juvenile-form
MLA “PHGDH deficiency, infantile/juvenile form.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/phgdh-deficiency-infantile-juvenile-form.
BibTeX @misc{4ortxyz_phgdh-deficiency-infantile-juvenile-form_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{PHGDH deficiency, infantile/juvenile form}}, year = {2026}, url = {https://4ort.xyz/entity/phgdh-deficiency-infantile-juvenile-form}, note = {Accessed: 2026-05-03}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): PHGDH deficiency, infantile/juvenile form — https://4ort.xyz/entity/phgdh-deficiency-infantile-juvenile-form (retrieved 2026-05-03)

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