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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


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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 1:45,567,991...45,923,644
Ensembl chr 1:45,563,623...45,923,493 		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 chr14:67,349,004...67,435,883
Ensembl chr14:67,351,353...67,435,949 		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 8:33,775,123...33,861,635
Ensembl chr 8:33,806,183...33,859,033 		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 5:21,812,007...21,995,358
Ensembl chr 5:21,812,070...21,995,358 		JBrowse link
G Dmxl2 Dmx-like 2 ISO ClinVar Annotator: match by term: Pituitary stalk interruption syndrome ClinVar PMID:25741868 NCBI chr 8:54,741,164...54,884,948
Ensembl chr 8:54,741,160...54,885,161 		JBrowse link
G Dnmt1 DNA methyltransferase 1 ISO ClinVar Annotator: match by term: Pituitary stalk interruption syndrome ClinVar PMID:25741868 NCBI chr 8:19,440,611...19,486,659
Ensembl chr 8:19,440,611...19,486,659 		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 chr19:51,304,126...51,362,586
Ensembl chr19:51,304,021...51,362,527 		JBrowse link
G Fancd2 FA complementation group D2 ISO ClinVar Annotator: match by term: Pituitary stalk interruption syndrome ClinVar PMID:25741868 NCBI chr 4:146,679,014...146,743,422
Ensembl chr 4:146,679,179...146,743,412 		JBrowse link
G Fancg FA complementation group G ISO ClinVar Annotator: match by term: Pituitary stalk interruption syndrome ClinVar PMID:25741868 PMID:28717661 NCBI chr 5:57,230,287...57,240,067
Ensembl chr 5:57,231,685...57,240,029 		JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Pituitary stalk interruption syndrome ClinVar PMID:25741868 NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341 		JBrowse link
G Gli2 GLI family zinc finger 2 ISO ClinVar Annotator: match by term: Pituitary stalk interruption syndrome ClinVar PMID:25741868 NCBI chr13:29,946,882...30,163,589
Ensembl chr13:29,946,809...30,163,574 		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 PMID:25741868 PMID:28492532 NCBI chr13:77,578,257...77,623,661
Ensembl chr13:77,577,739...77,619,613 		JBrowse link
G Kiss1r KISS1 receptor ISO ClinVar Annotator: match by term: Pituitary stalk interruption syndrome ClinVar PMID:25741868 NCBI chr 7:9,785,135...9,790,283
Ensembl chr 7:9,785,135...9,788,793 		JBrowse link
G Lhx9 LIM homeobox 9 ISO ClinVar Annotator: match by term: Pituitary stalk interruption syndrome ClinVar PMID:25741868 NCBI chr13:50,389,052...50,409,947
Ensembl chr13:50,389,738...50,410,806 		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 6:36,048,357...36,353,206
Ensembl chr 6:36,048,191...36,352,984 		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 3:7,861,846...7,870,615
Ensembl chr 3:7,861,872...7,870,614 		JBrowse link
G Pitx2 paired-like homeodomain 2 ISO ClinVar Annotator: match by term: Pituitary stalk interruption syndrome ClinVar PMID:25741868 NCBI chr 2:217,717,738...217,737,293
Ensembl chr 2:217,717,693...217,737,293 		JBrowse link
G Pmm2 phosphomannomutase 2 ISO ClinVar Annotator: match by term: Pituitary stalk interruption syndrome ClinVar PMID:25741868 NCBI chr10:6,961,521...6,982,913
Ensembl chr10:6,961,709...6,983,098 		JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Pituitary stalk interruption syndrome ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:33270637 NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333 		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 4:148,679,534...148,740,265
Ensembl chr 4:148,679,530...148,740,317 		JBrowse link
G Robo1 roundabout guidance receptor 1 ISO ClinVar Annotator: match by term: Pituitary stalk interruption syndrome ClinVar PMID:25741868 PMID:28402530 PMID:30530901 PMID:31448886 NCBI chr11:10,580,863...11,621,675
Ensembl chr11:10,580,908...11,620,203 		JBrowse link
G Slx4 SLX4 structure-specific endonuclease subunit ISO ClinVar Annotator: match by term: Pituitary stalk interruption syndrome ClinVar PMID:25741868 NCBI chr10:11,526,623...11,549,313
Ensembl chr10:11,528,424...11,549,295 		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 1:224,191,125...224,358,640
Ensembl chr 1:224,191,125...224,358,684 		JBrowse link
G Sox11 SRY-box transcription factor 11 ISO ClinVar Annotator: match by term: Pituitary stalk interruption syndrome ClinVar PMID:25741868 NCBI chr 6:44,008,333...44,010,354
Ensembl chr 6:44,008,340...44,010,354 		JBrowse link
G Tbce tubulin folding cofactor E ISO ClinVar Annotator: match by term: Pituitary stalk interruption syndrome ClinVar PMID:25741868 NCBI chr17:51,290,143...51,336,090
Ensembl chr17:51,290,202...51,336,089 		JBrowse link
G Vps13b vacuolar protein sorting 13 homolog B ISO ClinVar Annotator: match by term: Pituitary stalk interruption syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:66,557,862...67,128,429
Ensembl chr 7:66,558,471...67,128,429 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    syndrome 10889
      Pituitary Stalk Interruption Syndrome 26
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        central nervous system disease 12432
          brain disease 11669
            hypothalamic disease 505
              pituitary gland disease 275
                Pituitary Stalk Interruption Syndrome 26
paths to the root