Human Phenotype Ontology

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

Hello! Guest! Please Login or Register! Clinician Mode

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 hypoplasia (HP:0002594)

Term ID:

2594

Name:

Pancreatic hypoplasia

Synonym:

Hypoplastic pancreas; Underdeveloped pancreas

Definition:

Hypoplasia of the pancreas.

Comments:

Reference:

HP:0002594

Genes and Diseases:

Child Nodes:

Sister Nodes:

Pancreatic aplasia (HP:0100801)

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:0002594	HP:0002594	Pancreatic hypoplasia	0	ABCC8 CL E G H	6833	59	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040283 - Occasional	245
HP:0002594	HP:0002594	Pancreatic hypoplasia	0	ABCC8 CL E G H	6833	59	ORPHA:552	MODY	HP:0040284 - Very rare	245
HP:0002594	HP:0002594	Pancreatic hypoplasia	0	APPL1 CL E G H	26060	24035	ORPHA:552	MODY	HP:0040284 - Very rare	2
HP:0002594	HP:0002594	Pancreatic hypoplasia	0	BLK CL E G H	640	1057	ORPHA:552	MODY	HP:0040284 - Very rare	75
HP:0002594	HP:0002594	Pancreatic hypoplasia	0	CEL CL E G H	1056	1848	ORPHA:552	MODY	HP:0040284 - Very rare	25
HP:0002594	HP:0002594	Pancreatic hypoplasia	0	DNAJC21 CL E G H	134218	27030	ORPHA:811	Shwachman-Diamond syndrome	HP:0040282 - Frequent	5
HP:0002594	HP:0002594	Pancreatic hypoplasia	0	EFL1 CL E G H	79631	25789	ORPHA:811	Shwachman-Diamond syndrome	HP:0040282 - Frequent	1
HP:0002594	HP:0002594	Pancreatic hypoplasia	0	FOCAD CL E G H	54914	23377	OMIM:619991			3
HP:0002594	HP:0002594	Pancreatic hypoplasia	0	GATA6 CL E G H	2627	4174	OMIM:600001	Pancreatic agenesis and congenital heart defects	.	37
HP:0002594	HP:0002594	Pancreatic hypoplasia	0	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome	HP:0040282 - Frequent	37
HP:0002594	HP:0002594	Pancreatic hypoplasia	0	GCK CL E G H	2645	4195	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040283 - Occasional	237
HP:0002594	HP:0002594	Pancreatic hypoplasia	0	GCK CL E G H	2645	4195	ORPHA:552	MODY	HP:0040284 - Very rare	237
HP:0002594	HP:0002594	Pancreatic hypoplasia	0	GLIS3 CL E G H	169792	28510	OMIM:610199	Diabetes mellitus, neonatal, with congenital hypothyroidism	HP:0040283 - Occasional	143
HP:0002594	HP:0002594	Pancreatic hypoplasia	0	HNF1A CL E G H	6927	11621	ORPHA:552	MODY	HP:0040284 - Very rare	161
HP:0002594	HP:0002594	Pancreatic hypoplasia	0	HNF1B CL E G H	6928	11630	OMIM:137920	Renal cysts and diabetes syndrome		90
HP:0002594	HP:0002594	Pancreatic hypoplasia	0	HNF4A CL E G H	3172	5024	ORPHA:552	MODY	HP:0040284 - Very rare	138
HP:0002594	HP:0002594	Pancreatic hypoplasia	0	INS CL E G H	3630	6081	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040283 - Occasional	62
HP:0002594	HP:0002594	Pancreatic hypoplasia	0	INS CL E G H	3630	6081	ORPHA:552	MODY	HP:0040284 - Very rare	62
HP:0002594	HP:0002594	Pancreatic hypoplasia	0	KCNJ11 CL E G H	3767	6257	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040283 - Occasional	127
HP:0002594	HP:0002594	Pancreatic hypoplasia	0	KCNJ11 CL E G H	3767	6257	ORPHA:552	MODY	HP:0040284 - Very rare	127
HP:0002594	HP:0002594	Pancreatic hypoplasia	0	KLF11 CL E G H	8462	11811	ORPHA:552	MODY	HP:0040284 - Very rare	78
HP:0002594	HP:0002594	Pancreatic hypoplasia	0	NEUROD1 CL E G H	4760	7762	ORPHA:552	MODY	HP:0040284 - Very rare	32
HP:0002594	HP:0002594	Pancreatic hypoplasia	0	PAX4 CL E G H	5078	8618	ORPHA:552	MODY	HP:0040284 - Very rare	55
HP:0002594	HP:0002594	Pancreatic hypoplasia	0	PDX1 CL E G H	3651	6107	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040283 - Occasional	30
HP:0002594	HP:0002594	Pancreatic hypoplasia	0	PDX1 CL E G H	3651	6107	ORPHA:552	MODY	HP:0040284 - Very rare	30
HP:0002594	HP:0002594	Pancreatic hypoplasia	0	PDX1 CL E G H	3651	6107	OMIM:260370	Pancreatic agenesis, congenital	.	30
HP:0002594	HP:0002594	Pancreatic hypoplasia	0	PTF1A CL E G H	256297	23734	OMIM:615935	Pancreatic agenesis 2	.	22
HP:0002594	HP:0002594	Pancreatic hypoplasia	0	PTF1A CL E G H	256297	23734	OMIM:609069	Pancreatic and cerebellar agenesis	.	22
HP:0002594	HP:0002594	Pancreatic hypoplasia	0	RFX6 CL E G H	222546	21478	OMIM:615710	Mitchell-Riley syndrome	.	28
HP:0002594	HP:0002594	Pancreatic hypoplasia	0	SBDS CL E G H	51119	19440	ORPHA:811	Shwachman-Diamond syndrome	HP:0040282 - Frequent	26
HP:0002594	HP:0002594	Pancreatic hypoplasia	0	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome	HP:0040284 - Very rare	68
HP:0002594	HP:0002594	Pancreatic hypoplasia	0	SRP54 CL E G H	6729	11301	ORPHA:811	Shwachman-Diamond syndrome	HP:0040282 - Frequent
HP:0002594	HP:0002594	Pancreatic hypoplasia	0	STAT3 CL E G H	6774	11364	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040283 - Occasional	110

Genes (25) :ABCC8 APPL1 BLK CEL DNAJC21 EFL1 FOCAD GATA6 GCK GLIS3 HNF1A HNF1B HNF4A INS KCNJ11 KLF11 NEUROD1 PAX4 PDX1 PTF1A RFX6 SBDS SLC29A3 SRP54 STAT3

Diseases (13) :ORPHA:99885 ORPHA:552 ORPHA:811 OMIM:619991 OMIM:600001 ORPHA:2255 OMIM:610199 OMIM:137920 OMIM:260370 OMIM:615935 OMIM:609069 OMIM:615710 OMIM:602782

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

Feedback about the webpages , or email to MSeqDR webmaster: Lishuang Shen