PSAT deficiency

serine deficiency that has material basis in deficiency of phosphoserine aminotransferase and is characterized by low concentrations of serine and flycine in plasma and cerebrospinal fluid

MedicalCondition rare_disease Q18553427

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PSAT deficiency

Summary

PSAT deficiency is a rare disease^[1].

Key Facts

PSAT deficiency's instance of is recorded as rare disease^[2].
PSAT deficiency's instance of is recorded as class of disease^[3].
PSAT deficiency's subclass of is recorded as serine deficiency^[4].
PSAT deficiency's subclass of is recorded as genetic syndromic intellectual disability^[5].
PSAT deficiency's MeSH descriptor ID is recorded as C567032^[6].
PSAT deficiency's OMIM ID is recorded as 610992^[7].
PSAT deficiency's KEGG ID is recorded as H01082^[8].
PSAT deficiency's Disease Ontology ID is recorded as DOID:0050723^[9].
PSAT deficiency's Orphanet ID is recorded as 284417^[10].
PSAT deficiency's genetic association is recorded as PSAT1^[11].
PSAT deficiency's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0050723^[12].
PSAT deficiency's exact match is recorded as http://identifiers.org/doid/DOID:0050723^[13].
PSAT deficiency's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_284417^[14].
PSAT deficiency's UMLS CUI is recorded as C1970253^[15].
PSAT deficiency's ICD-10-CM is recorded as E72.8^[16].
PSAT deficiency's GARD rare disease ID is recorded as 13273^[17].
PSAT deficiency's on focus list of Wikimedia project is recorded as WikiProject Medicine^[18].
PSAT deficiency's Mondo ID is recorded as MONDO_0012596^[19].
PSAT deficiency's UniProt disease ID is recorded as DI-02163^[20].

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Quick Facts

Instance of rare disease, class of disease

Subclass of serine deficiency, genetic syndromic intellectual disability

Properties

Exact match purl.obolibrary.org, identifiers.org, www.orpha.net

Genetic association PSAT1

Imported from wholeness_audit_2026-05-02

On focus list of wikimedia project WikiProject Medicine

External References (10)

Disease ontology id DOID:0050723

Gard rare disease id 13273

Icd-10-cm E72.8

Kegg id H01082

Mesh descriptor id C567032

Mondo id MONDO_0012596

Omim id 610992

Orphanet id 284417

Umls cui C1970253

Uniprot disease id DI-02163

🏷️ Also known as

en Phosphoserine aminotransferase deficiency en PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY; PSATD en PSATD en PSAT deficiency fr déficit en phosphosérine aminotransférase

References

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

Direct Wikidata claims

[2] ↑ PSAT deficiency — instance of (P31): rare disease. wikidata.org.
[3] ↑ PSAT deficiency — instance of (P31): class of disease. wikidata.org.
[4] ↑ PSAT deficiency — subclass of (P279): serine deficiency. Disease Ontology. Retrieved 2020-11-27. wikidata.org.
[5] ↑ PSAT deficiency — subclass of (P279): genetic syndromic intellectual disability. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-28. wikidata.org.
[6] ↑ PSAT deficiency — MeSH descriptor ID (P486): C567032. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-28. wikidata.org.
[7] ↑ PSAT deficiency — OMIM ID (P492): 610992. Disease Ontology. Retrieved 2019-08-28. wikidata.org.
[8] ↑ PSAT deficiency — KEGG ID (P665): H01082. wikidata.org.
[9] ↑ PSAT deficiency — Disease Ontology ID (P699): DOID:0050723. Disease Ontology. Retrieved 2020-11-27. wikidata.org.
[10] ↑ PSAT deficiency — Orphanet ID (P1550): 284417. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-28. wikidata.org.
[11] ↑ PSAT deficiency — genetic association (P2293): PSAT1. Q905695. Retrieved 2019-08-13. wikidata.org.
[12] ↑ PSAT deficiency — exact match (P2888): http://purl.obolibrary.org/obo/DOID_0050723. Disease Ontology. Retrieved 2020-11-27. wikidata.org.
[13] ↑ PSAT deficiency — exact match (P2888): http://identifiers.org/doid/DOID:0050723. Identifiers.org. registry.identifiers.org. Provenance: wikidata.org.
[14] ↑ PSAT deficiency — exact match (P2888): http://www.orpha.net/ORDO/Orphanet_284417. wikidata.org.
[15] ↑ PSAT deficiency — UMLS CUI (P2892): C1970253. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-28. wikidata.org.
[16] ↑ PSAT deficiency — ICD-10-CM (P4229): E72.8. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-28. wikidata.org.
[17] ↑ PSAT deficiency — GARD rare disease ID (P4317): 13273. wikidata.org.
[18] ↑ PSAT deficiency — on focus list of Wikimedia project (P5008): WikiProject Medicine. wikidata.org.
[19] ↑ PSAT deficiency — Mondo ID (P5270): MONDO_0012596. wikidata.org.
[20] ↑ PSAT deficiency — UniProt disease ID (P11430): DI-02163. wikidata.org.

Class ancestry

[1] ↑ PSAT deficiency is an instance of rare disease (Q929833) [P31, primary]. 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). PSAT deficiency. Retrieved May 3, 2026, from https://4ort.xyz/entity/psat-deficiency

MLA “PSAT deficiency.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/psat-deficiency.

BibTeX

@misc{4ortxyz_psat-deficiency_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{PSAT deficiency}}, year = {2026}, url = {https://4ort.xyz/entity/psat-deficiency}, note = {Accessed: 2026-05-03}}

LLM prompt

According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): PSAT deficiency — https://4ort.xyz/entity/psat-deficiency (retrieved 2026-05-03)

Canonical URL: https://4ort.xyz/entity/psat-deficiency · Last refreshed: May 3, 2026