Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
Accession:DOID:0050724 term browser browse the term
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: OMIM:614023
 alt_id: RDO:9000684
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
PSPH deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
JBrowse link
G Chchd2l3 coiled-coil-helix-coiled-coil-helix domain containing protein 2-like 3 ISO ClinVar Annotator: match by term: Phosphoserine phosphatase deficiency ClinVar PMID:28492532 NCBI chr 9:94,500,439...94,501,110
NCBI chr 9:94,500,629...94,501,122
Ensembl chr 9:94,500,432...94,501,128
JBrowse link
G 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
JBrowse link
G Psph phosphoserine phosphatase ISO ClinVar Annotator: match by term: Phosphoserine phosphatase deficiency OMIM
ClinVar
PMID:9222972 PMID:9536098 PMID:14673469 PMID:17576681 PMID:24146633 More... NCBI chr12:26,882,524...26,905,084
Ensembl chr12:26,883,133...26,905,074
JBrowse link
G 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
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18030
    Pathological Conditions, Signs and Symptoms 11166
      Pathologic Processes 7534
        Growth Disorders 855
          PSPH deficiency 5
Path 2
Term Annotations click to browse term
  disease 18030
    Developmental Disease 12741
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11401
        genetic disease 10993
          inherited metabolic disorder 4644
            amino acid metabolic disorder 801
              serine deficiency 12
                PSPH deficiency 5
paths to the root