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 morphology (HP:0012090)

Parent Node:
Abnormal pancreas size (HP:0012094)

..Starting node
..Aplasia/Hypoplasia of the pancreas (HP:0100800)

Term ID:

100800

Name:

Aplasia/Hypoplasia of the pancreas

Synonym:

Absent/small pancreas; Absent/underdeveloped pancreas

Definition:

A congenital underdevelopment (aplasia or hypoplasia) of the pancreas.

Comments:

Reference:

HP:0100800

Genes and Diseases:

Child Nodes:

........

Pancreatic hypoplasia (HP:0002594)

........

Pancreatic aplasia (HP:0100801)

Sister Nodes:

Pancreatic hyperplasia (HP:0006277)

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:0100800	HP:0100800	Aplasia/Hypoplasia of the pancreas	0	ABCC8 CL E G H	6833	59	ORPHA:99885	Isolated permanent neonatal diabetes mellitus		245
HP:0100800	HP:0100800	Aplasia/Hypoplasia of the pancreas	0	ABCC8 CL E G H	6833	59	ORPHA:552	MODY		245
HP:0100800	HP:0100800	Aplasia/Hypoplasia of the pancreas	0	APPL1 CL E G H	26060	24035	ORPHA:552	MODY		2
HP:0100800	HP:0100800	Aplasia/Hypoplasia of the pancreas	0	BLK CL E G H	640	1057	ORPHA:552	MODY		75
HP:0100800	HP:0100800	Aplasia/Hypoplasia of the pancreas	0	CEL CL E G H	1056	1848	ORPHA:552	MODY		25
HP:0100800	HP:0100800	Aplasia/Hypoplasia of the pancreas	0	CNOT1 CL E G H	23019	7877	ORPHA:556955	Pancreatic agenesis-holoprosencephaly syndrome		2
HP:0100800	HP:0100800	Aplasia/Hypoplasia of the pancreas	0	DNAJC21 CL E G H	134218	27030	ORPHA:811	Shwachman-Diamond syndrome		5
HP:0100800	HP:0100800	Aplasia/Hypoplasia of the pancreas	0	EFL1 CL E G H	79631	25789	ORPHA:811	Shwachman-Diamond syndrome		1
HP:0100800	HP:0100800	Aplasia/Hypoplasia of the pancreas	0	FOCAD CL E G H	54914	23377	OMIM:619991			3
HP:0100800	HP:0100800	Aplasia/Hypoplasia of the pancreas	0	GATA6 CL E G H	2627	4174	OMIM:600001	Pancreatic agenesis and congenital heart defects		37
HP:0100800	HP:0100800	Aplasia/Hypoplasia of the pancreas	0	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome		37
HP:0100800	HP:0100800	Aplasia/Hypoplasia of the pancreas	0	GCK CL E G H	2645	4195	ORPHA:99885	Isolated permanent neonatal diabetes mellitus		237
HP:0100800	HP:0100800	Aplasia/Hypoplasia of the pancreas	0	GCK CL E G H	2645	4195	ORPHA:552	MODY		237
HP:0100800	HP:0100800	Aplasia/Hypoplasia of the pancreas	0	GLIS3 CL E G H	169792	28510	OMIM:610199	Diabetes mellitus, neonatal, with congenital hypothyroidism		143
HP:0100800	HP:0100800	Aplasia/Hypoplasia of the pancreas	0	HNF1A CL E G H	6927	11621	ORPHA:552	MODY		161
HP:0100800	HP:0100800	Aplasia/Hypoplasia of the pancreas	0	HNF1B CL E G H	6928	11630	ORPHA:261265	17q12 microdeletion syndrome		90
HP:0100800	HP:0100800	Aplasia/Hypoplasia of the pancreas	0	HNF1B CL E G H	6928	11630	ORPHA:93111	HNF1B-related autosomal dominant tubulointerstitial kidney disease	HP:0040283 - Occasional	90
HP:0100800	HP:0100800	Aplasia/Hypoplasia of the pancreas	0	HNF1B CL E G H	6928	11630	OMIM:137920	Renal cysts and diabetes syndrome		90
HP:0100800	HP:0100800	Aplasia/Hypoplasia of the pancreas	0	HNF4A CL E G H	3172	5024	ORPHA:552	MODY		138
HP:0100800	HP:0100800	Aplasia/Hypoplasia of the pancreas	0	INS CL E G H	3630	6081	ORPHA:99885	Isolated permanent neonatal diabetes mellitus		62
HP:0100800	HP:0100800	Aplasia/Hypoplasia of the pancreas	0	INS CL E G H	3630	6081	ORPHA:552	MODY		62
HP:0100800	HP:0100800	Aplasia/Hypoplasia of the pancreas	0	KCNJ11 CL E G H	3767	6257	ORPHA:99885	Isolated permanent neonatal diabetes mellitus		127
HP:0100800	HP:0100800	Aplasia/Hypoplasia of the pancreas	0	KCNJ11 CL E G H	3767	6257	ORPHA:552	MODY		127
HP:0100800	HP:0100800	Aplasia/Hypoplasia of the pancreas	0	KLF11 CL E G H	8462	11811	ORPHA:552	MODY		78
HP:0100800	HP:0100800	Aplasia/Hypoplasia of the pancreas	0	LHX1 CL E G H	3975	6593	ORPHA:261265	17q12 microdeletion syndrome
HP:0100800	HP:0100800	Aplasia/Hypoplasia of the pancreas	0	NEUROD1 CL E G H	4760	7762	ORPHA:552	MODY		32
HP:0100800	HP:0100800	Aplasia/Hypoplasia of the pancreas	0	PAX4 CL E G H	5078	8618	ORPHA:552	MODY		55
HP:0100800	HP:0100800	Aplasia/Hypoplasia of the pancreas	0	PDX1 CL E G H	3651	6107	ORPHA:99885	Isolated permanent neonatal diabetes mellitus		30
HP:0100800	HP:0100800	Aplasia/Hypoplasia of the pancreas	0	PDX1 CL E G H	3651	6107	ORPHA:552	MODY		30
HP:0100800	HP:0100800	Aplasia/Hypoplasia of the pancreas	0	PDX1 CL E G H	3651	6107	OMIM:260370	Pancreatic agenesis, congenital		30
HP:0100800	HP:0100800	Aplasia/Hypoplasia of the pancreas	0	PTF1A CL E G H	256297	23734	OMIM:615935	Pancreatic agenesis 2		22
HP:0100800	HP:0100800	Aplasia/Hypoplasia of the pancreas	0	PTF1A CL E G H	256297	23734	OMIM:609069	Pancreatic and cerebellar agenesis		22
HP:0100800	HP:0100800	Aplasia/Hypoplasia of the pancreas	0	PTF1A CL E G H	256297	23734	ORPHA:65288	Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome	HP:0040282 - Frequent	22
HP:0100800	HP:0100800	Aplasia/Hypoplasia of the pancreas	0	PTRH2 CL E G H	51651	24265	ORPHA:456312	Infantile multisystem neurologic-endocrine-pancreatic disease	HP:0040283 - Occasional	6
HP:0100800	HP:0100800	Aplasia/Hypoplasia of the pancreas	0	RARB CL E G H	5915	9865	ORPHA:2470	Matthew-Wood syndrome	HP:0040283 - Occasional	9
HP:0100800	HP:0100800	Aplasia/Hypoplasia of the pancreas	0	RFX6 CL E G H	222546	21478	OMIM:615710	Mitchell-Riley syndrome		28
HP:0100800	HP:0100800	Aplasia/Hypoplasia of the pancreas	0	SBDS CL E G H	51119	19440	ORPHA:811	Shwachman-Diamond syndrome		26
HP:0100800	HP:0100800	Aplasia/Hypoplasia of the pancreas	0	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome		68
HP:0100800	HP:0100800	Aplasia/Hypoplasia of the pancreas	0	SRP54 CL E G H	6729	11301	ORPHA:811	Shwachman-Diamond syndrome
HP:0100800	HP:0100800	Aplasia/Hypoplasia of the pancreas	0	STAT3 CL E G H	6774	11364	ORPHA:99885	Isolated permanent neonatal diabetes mellitus		110
HP:0100800	HP:0100800	Aplasia/Hypoplasia of the pancreas	0	STRA6 CL E G H	64220	30650	ORPHA:2470	Matthew-Wood syndrome	HP:0040283 - Occasional	71
HP:0100800	HP:0002594	Pancreatic hypoplasia	1	ABCC8 CL E G H	6833	59	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040283 - Occasional	245
HP:0100800	HP:0002594	Pancreatic hypoplasia	1	ABCC8 CL E G H	6833	59	ORPHA:552	MODY	HP:0040284 - Very rare	245
HP:0100800	HP:0002594	Pancreatic hypoplasia	1	APPL1 CL E G H	26060	24035	ORPHA:552	MODY	HP:0040284 - Very rare	2
HP:0100800	HP:0002594	Pancreatic hypoplasia	1	BLK CL E G H	640	1057	ORPHA:552	MODY	HP:0040284 - Very rare	75
HP:0100800	HP:0002594	Pancreatic hypoplasia	1	CEL CL E G H	1056	1848	ORPHA:552	MODY	HP:0040284 - Very rare	25
HP:0100800	HP:0100801	Pancreatic aplasia	1	CNOT1 CL E G H	23019	7877	ORPHA:556955	Pancreatic agenesis-holoprosencephaly syndrome	HP:0040282 - Frequent	2
HP:0100800	HP:0002594	Pancreatic hypoplasia	1	DNAJC21 CL E G H	134218	27030	ORPHA:811	Shwachman-Diamond syndrome	HP:0040282 - Frequent	5
HP:0100800	HP:0002594	Pancreatic hypoplasia	1	EFL1 CL E G H	79631	25789	ORPHA:811	Shwachman-Diamond syndrome	HP:0040282 - Frequent	1
HP:0100800	HP:0002594	Pancreatic hypoplasia	1	FOCAD CL E G H	54914	23377	OMIM:619991			3
HP:0100800	HP:0002594	Pancreatic hypoplasia	1	GATA6 CL E G H	2627	4174	OMIM:600001	Pancreatic agenesis and congenital heart defects	.	37
HP:0100800	HP:0002594	Pancreatic hypoplasia	1	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome	HP:0040282 - Frequent	37
HP:0100800	HP:0100801	Pancreatic aplasia	1	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome	HP:0040282 - Frequent	37
HP:0100800	HP:0002594	Pancreatic hypoplasia	1	GCK CL E G H	2645	4195	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040283 - Occasional	237
HP:0100800	HP:0002594	Pancreatic hypoplasia	1	GCK CL E G H	2645	4195	ORPHA:552	MODY	HP:0040284 - Very rare	237
HP:0100800	HP:0002594	Pancreatic hypoplasia	1	GLIS3 CL E G H	169792	28510	OMIM:610199	Diabetes mellitus, neonatal, with congenital hypothyroidism	HP:0040283 - Occasional	143
HP:0100800	HP:0002594	Pancreatic hypoplasia	1	HNF1A CL E G H	6927	11621	ORPHA:552	MODY	HP:0040284 - Very rare	161
HP:0100800	HP:0100801	Pancreatic aplasia	1	HNF1B CL E G H	6928	11630	ORPHA:261265	17q12 microdeletion syndrome	HP:0040283 - Occasional	90
HP:0100800	HP:0002594	Pancreatic hypoplasia	1	HNF1B CL E G H	6928	11630	OMIM:137920	Renal cysts and diabetes syndrome		90
HP:0100800	HP:0002594	Pancreatic hypoplasia	1	HNF4A CL E G H	3172	5024	ORPHA:552	MODY	HP:0040284 - Very rare	138
HP:0100800	HP:0002594	Pancreatic hypoplasia	1	INS CL E G H	3630	6081	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040283 - Occasional	62
HP:0100800	HP:0002594	Pancreatic hypoplasia	1	INS CL E G H	3630	6081	ORPHA:552	MODY	HP:0040284 - Very rare	62
HP:0100800	HP:0002594	Pancreatic hypoplasia	1	KCNJ11 CL E G H	3767	6257	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040283 - Occasional	127
HP:0100800	HP:0002594	Pancreatic hypoplasia	1	KCNJ11 CL E G H	3767	6257	ORPHA:552	MODY	HP:0040284 - Very rare	127
HP:0100800	HP:0002594	Pancreatic hypoplasia	1	KLF11 CL E G H	8462	11811	ORPHA:552	MODY	HP:0040284 - Very rare	78
HP:0100800	HP:0100801	Pancreatic aplasia	1	LHX1 CL E G H	3975	6593	ORPHA:261265	17q12 microdeletion syndrome	HP:0040283 - Occasional
HP:0100800	HP:0002594	Pancreatic hypoplasia	1	NEUROD1 CL E G H	4760	7762	ORPHA:552	MODY	HP:0040284 - Very rare	32
HP:0100800	HP:0002594	Pancreatic hypoplasia	1	PAX4 CL E G H	5078	8618	ORPHA:552	MODY	HP:0040284 - Very rare	55
HP:0100800	HP:0002594	Pancreatic hypoplasia	1	PDX1 CL E G H	3651	6107	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040283 - Occasional	30
HP:0100800	HP:0002594	Pancreatic hypoplasia	1	PDX1 CL E G H	3651	6107	ORPHA:552	MODY	HP:0040284 - Very rare	30
HP:0100800	HP:0002594	Pancreatic hypoplasia	1	PDX1 CL E G H	3651	6107	OMIM:260370	Pancreatic agenesis, congenital	.	30
HP:0100800	HP:0100801	Pancreatic aplasia	1	PDX1 CL E G H	3651	6107	OMIM:260370	Pancreatic agenesis, congenital		30
HP:0100800	HP:0002594	Pancreatic hypoplasia	1	PTF1A CL E G H	256297	23734	OMIM:615935	Pancreatic agenesis 2	.	22
HP:0100800	HP:0002594	Pancreatic hypoplasia	1	PTF1A CL E G H	256297	23734	OMIM:609069	Pancreatic and cerebellar agenesis	.	22
HP:0100800	HP:0100801	Pancreatic aplasia	1	PTF1A CL E G H	256297	23734	OMIM:609069	Pancreatic and cerebellar agenesis		22
HP:0100800	HP:0002594	Pancreatic hypoplasia	1	RFX6 CL E G H	222546	21478	OMIM:615710	Mitchell-Riley syndrome	.	28
HP:0100800	HP:0002594	Pancreatic hypoplasia	1	SBDS CL E G H	51119	19440	ORPHA:811	Shwachman-Diamond syndrome	HP:0040282 - Frequent	26
HP:0100800	HP:0002594	Pancreatic hypoplasia	1	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome	HP:0040284 - Very rare	68
HP:0100800	HP:0002594	Pancreatic hypoplasia	1	SRP54 CL E G H	6729	11301	ORPHA:811	Shwachman-Diamond syndrome	HP:0040282 - Frequent
HP:0100800	HP:0002594	Pancreatic hypoplasia	1	STAT3 CL E G H	6774	11364	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040283 - Occasional	110

Genes (30) :ABCC8 APPL1 BLK CEL CNOT1 DNAJC21 EFL1 FOCAD GATA6 GCK GLIS3 HNF1A HNF1B HNF4A INS KCNJ11 KLF11 LHX1 NEUROD1 PAX4 PDX1 PTF1A PTRH2 RARB RFX6 SBDS SLC29A3 SRP54 STAT3 STRA6

Diseases (19) :ORPHA:99885 ORPHA:552 ORPHA:556955 ORPHA:811 OMIM:619991 OMIM:600001 ORPHA:2255 OMIM:610199 ORPHA:261265 ORPHA:93111 OMIM:137920 OMIM:260370 OMIM:615935 OMIM:609069 ORPHA:65288 ORPHA:456312 ORPHA:2470 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