Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormal pancreas size (HP:0012094)

Parent Node:
Aplasia/Hypoplasia of the pancreas (HP:0100800)

..Starting node
..Pancreatic aplasia (HP:0100801)

Term ID:

100801

Name:

Pancreatic aplasia

Synonym:

Absent pancreas

Definition:

Aplasia of the pancreas.

Comments:

Reference:

HP:0100801

Genes and Diseases:

Child Nodes:

Sister Nodes:

Pancreatic hypoplasia (HP:0002594)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0100801	HP:0100801	Pancreatic aplasia	0	CNOT1 CL E G H	23019	7877	ORPHA:556955	Pancreatic agenesis-holoprosencephaly syndrome	HP:0040282 - Frequent	2
HP:0100801	HP:0100801	Pancreatic aplasia	0	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome	HP:0040282 - Frequent	37
HP:0100801	HP:0100801	Pancreatic aplasia	0	HNF1B CL E G H	6928	11630	ORPHA:261265	17q12 microdeletion syndrome	HP:0040283 - Occasional	90
HP:0100801	HP:0100801	Pancreatic aplasia	0	LHX1 CL E G H	3975	6593	ORPHA:261265	17q12 microdeletion syndrome	HP:0040283 - Occasional
HP:0100801	HP:0100801	Pancreatic aplasia	0	PDX1 CL E G H	3651	6107	OMIM:260370	Pancreatic agenesis, congenital		30
HP:0100801	HP:0100801	Pancreatic aplasia	0	PTF1A CL E G H	256297	23734	OMIM:609069	Pancreatic and cerebellar agenesis		22

Genes (6) :CNOT1 GATA6 HNF1B LHX1 PDX1 PTF1A

Diseases (5) :ORPHA:556955 ORPHA:2255 ORPHA:261265 OMIM:260370 OMIM:609069

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