Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the pancreas (HP:0001732)help
Parent Node:
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Abnormal pancreas morphology (HP:0012090)help
..Starting node
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Annular pancreas (HP:0001734)help
Term ID: 1734
Name: Annular pancreas
Synonym:
Definition: A congenital anomaly in which the pancreas completely (or sometimes incompletely) encircles the second portion of duodenum and occasionally obstructs the more proximal duodenum.
Comments:
Reference: HP:0001734
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormal pancreas size (HP:0012094) help
..expandAbnormal pancreatic duct morphology (HP:0030992) help
..expandEctopic pancreatic tissue (HP:0006278) help
..expandHyperechogenic pancreas (HP:0006276) help
..expandPancreas divisum (HP:0030994) help
..expandPancreatic abscess (HP:0025079) help
..expandPancreatic calcification (HP:0005213) help
..expandPancreatic cysts (HP:0001737) help
..expandPancreatic dysplasia (HP:0005232) help
..expandPancreatic fibrosis (HP:0100732) help
..expandPancreatic fistula (HP:0100844) help
..expandPancreatic lymphangiectasis (HP:0006273) help
..expandPancreatic pseudocyst (HP:0005206) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001734HP:0001734Annular pancreas0ASXL1 CL E G H17102318318ORPHA:97297Bohring-Opitz syndromeHP:0040284 - Very rare145
HP:0001734HP:0001734Annular pancreas0CASZ1 CL E G H5489726002ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional3
HP:0001734HP:0001734Annular pancreas0FANCD2 CL E G H21773585OMIM:227646Fanconi anemia, complementation group D2147
HP:0001734HP:0001734Annular pancreas0FLI1 CL E G H23133749ORPHA:2308Jacobsen syndromeHP:0040283 - Occasional8
HP:0001734HP:0001734Annular pancreas0FOXF1 CL E G H22943809OMIM:265380Alveolar capillary dysplasia with misalignment of pulmonary veins61
HP:0001734HP:0001734Annular pancreas0FOXF1 CL E G H22943809ORPHA:210122Congenital alveolar capillary dysplasiaHP:0040283 - Occasional61
HP:0001734HP:0001734Annular pancreas0GABRD CL E G H25634084ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional10
HP:0001734HP:0001734Annular pancreas0HSPG2 CL E G H33395273ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional345
HP:0001734HP:0001734Annular pancreas0KCNAB2 CL E G H85146229ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional1
HP:0001734HP:0001734Annular pancreas0LUZP1 CL E G H779814985ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional
HP:0001734HP:0001734Annular pancreas0MMP23B CL E G H85107171ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional
HP:0001734HP:0001734Annular pancreas0MYCN CL E G H46137559OMIM:164280Feingold syndrome 1.35
HP:0001734HP:0001734Annular pancreas0PDPN CL E G H1063029602ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional
HP:0001734HP:0001734Annular pancreas0PRDM16 CL E G H6397614000ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional148
HP:0001734HP:0001734Annular pancreas0PRKCZ CL E G H55909412ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional
HP:0001734HP:0001734Annular pancreas0RARB CL E G H59159865ORPHA:2470Matthew-Wood syndromeHP:0040283 - Occasional9
HP:0001734HP:0001734Annular pancreas0RECQL4 CL E G H94019949OMIM:268400ROTHMUND-THOMSON SYNDROME; RTS445
HP:0001734HP:0001734Annular pancreas0RERE CL E G H4739965ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional16
HP:0001734HP:0001734Annular pancreas0RERE CL E G H4739965OMIM:616975Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart16
HP:0001734HP:0001734Annular pancreas0RFX6 CL E G H22254621478OMIM:615710Mitchell-Riley syndrome.28
HP:0001734HP:0001734Annular pancreas0SETBP1 CL E G H2604015573ORPHA:798Schinzel-Giedion syndromeHP:0040283 - Occasional143
HP:0001734HP:0001734Annular pancreas0SIK3 CL E G H2338729165OMIM:618162Spondyloepimetaphyseal dysplasia, Krakow type.
HP:0001734HP:0001734Annular pancreas0SKI CL E G H649710896ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional150
HP:0001734HP:0001734Annular pancreas0SPEN CL E G H2301317575ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional4
HP:0001734HP:0001734Annular pancreas0STRA6 CL E G H6422030650ORPHA:2470Matthew-Wood syndromeHP:0040283 - Occasional71
HP:0001734HP:0001734Annular pancreas0TELO2 CL E G H989429099ORPHA:488642TELO2-related intellectual disability-neurodevelopmental disorderHP:0040283 - Occasional12
HP:0001734HP:0001734Annular pancreas0UBE4B CL E G H1027712500ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional


Genes (25) :ASXL1 CASZ1 FANCD2 FLI1 FOXF1 GABRD HSPG2 KCNAB2 LUZP1 MMP23B MYCN PDPN PRDM16 PRKCZ RARB RECQL4 RERE RFX6 SETBP1 SIK3 SKI SPEN STRA6 TELO2 UBE4B

Diseases (14) :ORPHA:97297 ORPHA:1606 OMIM:227646 ORPHA:2308 OMIM:265380 ORPHA:210122 OMIM:164280 ORPHA:2470 OMIM:268400 OMIM:616975 OMIM:615710 ORPHA:798 OMIM:618162 ORPHA:488642
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.