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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Hyperechogenic pancreas (HP:0006276)help
Term ID: 6276
Name: Hyperechogenic pancreas
Synonym:
Definition:
Comments:
Reference: HP:0006276
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormal pancreas size (HP:0012094) help
..expandAbnormal pancreatic duct morphology (HP:0030992) help
..expandAnnular pancreas (HP:0001734) help
..expandEctopic pancreatic tissue (HP:0006278) 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:0006276HP:0006276Hyperechogenic pancreas0ASXL1 CL E G H17102318318OMIM:605039Bohring-Opitz syndrome.145
HP:0006276HP:0006276Hyperechogenic pancreas0EFL1 CL E G H7963125789OMIM:617941Shwachman-Diamond syndrome 2.1
HP:0006276HP:0006276Hyperechogenic pancreas0NPHP3 CL E G H270317907OMIM:208540Renal-Hepatic-Pancreatic dysplasia157
HP:0006276HP:0006276Hyperechogenic pancreas0PTRH2 CL E G H5165124265ORPHA:456312Infantile multisystem neurologic-endocrine-pancreatic diseaseHP:0040283 - Occasional6


Genes (4) :ASXL1 EFL1 NPHP3 PTRH2

Diseases (4) :OMIM:605039 OMIM:617941 OMIM:208540 ORPHA:456312
 

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