RGD DISEASE ONTOLOGY - ANNOTATIONS
RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term: PSPH deficiency
Accession: DOID:0050724
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Definition: A serine deficiency that has_material_basis_in deficiency of phosphoserine phosphatase impeding the synthesis of L-serine. (DO)
Synonyms: exact_synonym: PSPHD; phosphoserine phosphatase deficiency
primary_id: MIM:614023
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Cct6a
chaperonin containing TCP1 subunit 6A
ISO
ClinVar Annotator: match by term: Phosphoserine phosphatase deficiency
ClinVar
PMID:28492532
NCBI chr12:26,872,736...26,883,125
Ensembl chr12:26,872,574...26,883,337
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Chchd2
coiled-coil-helix-coiled-coil-helix domain containing 2
ISO
ClinVar Annotator: match by term: Phosphoserine phosphatase deficiency
ClinVar
PMID:28492532
NCBI chr12:26,828,738...26,834,762
Ensembl chr12:26,828,736...26,834,755
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Phkg1
phosphorylase kinase catalytic subunit gamma 1
ISO
ClinVar Annotator: match by term: Phosphoserine phosphatase deficiency
ClinVar
PMID:28492532
NCBI chr12:26,838,822...26,854,547
Ensembl chr12:26,838,968...26,852,850
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Psph
phosphoserine phosphatase
ISO
ClinVar Annotator: match by term: PSPH deficiency | ClinVar Annotator: match by term: Phosphoserine phosphatase deficiency
OMIM ClinVar
PMID:9222972 PMID:9536098 PMID:14673469 PMID:16199547 PMID:17576681 PMID:24146633 PMID:25080166 PMID:25741868 PMID:26589312 PMID:26633542 PMID:28492532 PMID:31515488 More...
NCBI chr12:26,882,524...26,905,084
Ensembl chr12:26,883,133...26,905,074
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Sumf2
sulfatase modifying factor 2
ISO
ClinVar Annotator: match by term: Phosphoserine phosphatase deficiency
ClinVar
PMID:28492532
NCBI chr12:26,853,561...26,871,835
Ensembl chr12:26,853,200...26,871,816
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