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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:Pituitary Stalk Interruption Syndrome
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Accession:DOID:9004030 term browser browse the term
Definition:Pituitary stalk interruption syndrome (PSIS) is a congenital abnormality of the pituitary that is responsible for pituitary deficiency and is usually characterized by the triad of a very thin or interrupted pituitary stalk, an ectopic (or absent) posterior pituitary (EPP) and hypoplasia or aplasia of the anterior pituitary visible on MRI. (MedGen)
Synonyms:exact_synonym: PSIS
 narrow_synonym: EPP;   Ectopic neurohypophysis
 primary_id: RDO:9001139
For additional species annotation, visit the Alliance of Genome Resources.


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Pituitary Stalk Interruption Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arid1b AT-rich interaction domain 1B ISO ClinVar Annotator: match by term: Pituitary stalk interruption syndrome ClinVar PMID:25741868 NCBI chr 1:45,923,119...46,232,301
Ensembl chr 1:45,923,222...46,234,874
JBrowse link
G Cc2d2a coiled-coil and C2 domain containing 2A ISO ClinVar Annotator: match by term: Pituitary stalk interruption syndrome ClinVar PMID:25741868 NCBI chr14:71,895,128...71,979,452
Ensembl chr14:71,895,246...71,973,419
JBrowse link
G Cdon cell adhesion associated, oncogene regulated ISO ClinVar Annotator: match by term: Pituitary stalk interruption syndrome ClinVar PMID:25741868 PMID:26529631 NCBI chr 8:36,625,757...36,712,091
Ensembl chr 8:36,625,733...36,710,949
JBrowse link
G Chd7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: Pituitary stalk interruption syndrome ClinVar PMID:25741868 NCBI chr 5:21,769,087...21,952,036
Ensembl chr 5:21,830,882...21,950,696
JBrowse link
G Dnmt1 DNA methyltransferase 1 ISO ClinVar Annotator: match by term: Pituitary stalk interruption syndrome ClinVar PMID:25741868 NCBI chr 8:21,922,515...21,968,495
Ensembl chr 8:21,922,515...21,968,495
JBrowse link
G Fanca FA complementation group A ISO ClinVar Annotator: match by term: Pituitary stalk interruption syndrome ClinVar PMID:10521298 PMID:12444097 PMID:25741868 NCBI chr19:56,067,548...56,126,075
Ensembl chr19:56,067,548...56,126,063
JBrowse link
G Fancd2 FA complementation group D2 ISO ClinVar Annotator: match by term: Pituitary stalk interruption syndrome ClinVar PMID:25741868 NCBI chr 4:145,489,869...145,551,479
Ensembl chr 4:145,489,869...145,551,479
JBrowse link
G Fancg FA complementation group G ISO ClinVar Annotator: match by term: Pituitary stalk interruption syndrome ClinVar PMID:25741868 NCBI chr 5:58,448,060...58,456,416
Ensembl chr 5:58,448,822...58,455,819
JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Pituitary stalk interruption syndrome ClinVar PMID:25741868 NCBI chr14:82,272,322...82,287,739
Ensembl chr14:82,273,070...82,287,706
JBrowse link
G Gli2 GLI family zinc finger 2 ISO ClinVar Annotator: match by term: Pituitary stalk interruption syndrome ClinVar PMID:25741868 NCBI chr13:34,829,021...35,049,172
Ensembl chr13:34,829,139...35,048,444
JBrowse link
G Gpr161 G protein-coupled receptor 161 ISO ClinVar Annotator: match by term: Pituitary stalk interruption syndrome ClinVar PMID:23332756 PMID:23806086 PMID:25322266 NCBI chr13:83,530,389...83,576,117
Ensembl chr13:83,531,018...83,571,505
JBrowse link
G Kiss1r KISS1 receptor ISO ClinVar Annotator: match by term: Pituitary stalk interruption syndrome ClinVar PMID:25741868 NCBI chr 7:12,606,210...12,609,868
Ensembl chr 7:12,606,210...12,609,868
JBrowse link
G Nbas NBAS subunit of NRZ tethering complex ISO ClinVar Annotator: match by term: Pituitary stalk interruption syndrome ClinVar PMID:25741868 NCBI chr 6:38,474,773...38,777,146
Ensembl chr 6:38,474,804...38,777,806
JBrowse link
G Nsmf NMDA receptor synaptonuclear signaling and neuronal migration factor ISO ClinVar Annotator: match by term: Pituitary stalk interruption syndrome ClinVar PMID:25741868 NCBI chr 3:2,262,173...2,270,996
Ensembl chr 3:2,262,253...2,270,995
JBrowse link
G Pmm2 phosphomannomutase 2 ISO ClinVar Annotator: match by term: Pituitary stalk interruption syndrome ClinVar PMID:25741868 NCBI chr10:7,056,258...7,077,443
Ensembl chr10:7,056,266...7,077,443
JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Pituitary stalk interruption syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr17:1,032,242...1,085,885
Ensembl chr17:1,029,048...1,093,873
JBrowse link
G Raf1 Raf-1 proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Pituitary stalk interruption syndrome ClinVar PMID:25741868 NCBI chr 4:147,532,040...147,592,769
Ensembl chr 4:147,532,042...147,592,699
JBrowse link
G Robo1 roundabout guidance receptor 1 ISO ClinVar Annotator: match by term: Pituitary stalk interruption syndrome ClinVar PMID:25741868 PMID:28402530 NCBI chr11:9,079,291...10,146,302
Ensembl chr11:9,642,365...10,143,317
JBrowse link
G Slx4 SLX4 structure-specific endonuclease subunit ISO ClinVar Annotator: match by term: Pituitary stalk interruption syndrome ClinVar PMID:25741868 NCBI chr10:11,787,756...11,808,326
Ensembl chr10:11,786,121...11,807,928
JBrowse link
G Smarca2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 ISO ClinVar Annotator: match by term: Pituitary stalk interruption syndrome ClinVar PMID:25741868 NCBI chr 1:244,615,811...244,783,736
Ensembl chr 1:244,615,821...244,782,706
JBrowse link
G Sox11 SRY-box transcription factor 11 ISO ClinVar Annotator: match by term: Pituitary stalk interruption syndrome ClinVar PMID:25741868 NCBI chr 6:46,629,967...46,631,988
Ensembl chr 6:46,629,974...46,631,983
JBrowse link
G Vps13b vacuolar protein sorting 13 homolog B ISO ClinVar Annotator: match by term: Pituitary stalk interruption syndrome ClinVar PMID:25741868 NCBI chr 7:74,118,834...74,722,341 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    syndrome 7041
      Pituitary Stalk Interruption Syndrome 22
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      nervous system disease 10967
        central nervous system disease 9119
          brain disease 8448
            thalamic disease 216
              hypothalamic disease 216
                pituitary gland disease 170
                  Pituitary Stalk Interruption Syndrome 22
paths to the root