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:
Abnormality of pancreas physiology (HP:0012091)

Parent Node:
Abnormality of exocrine pancreas physiology (HP:0012092)

..Starting node
..Exocrine pancreatic insufficiency (HP:0001738)

Term ID:

1738

Name:

Exocrine pancreatic insufficiency

Synonym:

Inability to properly digest food due to lack of pancreatic digestive enzymes; Pancreatic insufficiency

Definition:

Impaired function of the exocrine pancreas associated with a reduced ability to digest foods because of lack of digestive enzymes.

Comments:

Reference:

HP:0001738

Genes and Diseases:

Child Nodes:

Sister Nodes:

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0001738	HP:0001738	Exocrine pancreatic insufficiency	0	BRCA1 CL E G H	672	1333	Chromosome 19, ring		CN036553	ORPHA	1	13955	1100	113705
HP:0001738	HP:0001738	Exocrine pancreatic insufficiency	0	BRCA2 CL E G H	675	1333	Chromosome 19, ring		CN036553	ORPHA	1	17543	1101	600185
HP:0001738	HP:0001738	Exocrine pancreatic insufficiency	0	CDKN2A CL E G H	1029	1333	Chromosome 19, ring		CN036553	ORPHA	1	1305	1787	600160
HP:0001738	HP:0001738	Exocrine pancreatic insufficiency	0	CFTR CL E G H	1080	586	Al Gazali Khidr Prem Chandran syndrome			ORPHA	1	4433	1884	602421
HP:0001738	HP:0001738	Exocrine pancreatic insufficiency	0	CFTR CL E G H	1080	219700	Cystic fibrosis	219700	C0010674	OMIM	1	4433	1884	602421
HP:0001738	HP:0001738	Exocrine pancreatic insufficiency	0	CLCA4 CL E G H	22802	586	Al Gazali Khidr Prem Chandran syndrome			ORPHA	1	58	2018	616857
HP:0001738	HP:0001738	Exocrine pancreatic insufficiency	0	COX4I2 CL E G H	84701	612714	Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis	612714	C2675184	OMIM	1	73	16232	607976
HP:0001738	HP:0001738	Exocrine pancreatic insufficiency	0	CTNS CL E G H	1497	219800	Nephropathic cystinosis	219800	C0010690	OMIM	1	778	2518	606272
HP:0001738	HP:0001738	Exocrine pancreatic insufficiency	0	DCTN4 CL E G H	51164	586	Al Gazali Khidr Prem Chandran syndrome			ORPHA	1	33	15518	614758
HP:0001738	HP:0001738	Exocrine pancreatic insufficiency	0	DNAJC21 CL E G H	134218	811	Balo disease			ORPHA	1	337	27030	617048
HP:0001738	HP:0001738	Exocrine pancreatic insufficiency	0	DNAJC21 CL E G H	134218	617052	Bone marrow failure syndrome 3	617052	C4310744	OMIM	1	337	27030	617048
HP:0001738	HP:0001738	Exocrine pancreatic insufficiency	0	DNAJC21 CL E G H	134218	260400	Shwachman syndrome	260400	C0272170	OMIM	1	337	27030	617048
HP:0001738	HP:0001738	Exocrine pancreatic insufficiency	0	EFL1 CL E G H	79631	811	Balo disease			ORPHA	1	394	25789	617538
HP:0001738	HP:0001738	Exocrine pancreatic insufficiency	0	EFL1 CL E G H	79631	617941	SHWACHMAN-DIAMOND SYNDROME 2	617941	CN244554	OMIM	1	394	25789	617538
HP:0001738	HP:0001738	Exocrine pancreatic insufficiency	0	GATA6 CL E G H	2627	2255	Familial non-immune hyperthyroidism			ORPHA	1	496	4174	601656
HP:0001738	HP:0001738	Exocrine pancreatic insufficiency	0	JAG1 CL E G H	182	118450	Alagille syndrome 1	118450	C1956125	OMIM	1	1605	6188	601920
HP:0001738	HP:0001738	Exocrine pancreatic insufficiency	0	KRAS CL E G H	3845	1333	Chromosome 19, ring		CN036553	ORPHA	1	480	6407	190070
HP:0001738	HP:0001738	Exocrine pancreatic insufficiency	0	PALB2 CL E G H	79728	1333	Chromosome 19, ring		CN036553	ORPHA	1	5225	26144	610355
HP:0001738	HP:0001738	Exocrine pancreatic insufficiency	0	PALLD CL E G H	23022	1333	Chromosome 19, ring		CN036553	ORPHA	1	1741	17068	608092
HP:0001738	HP:0001738	Exocrine pancreatic insufficiency	0	PDX1 CL E G H	3651	260370	Pancreatic agenesis, congenital	260370	C1850096	OMIM	1	170	6107	600733
HP:0001738	HP:0001738	Exocrine pancreatic insufficiency	0	PRSS1 CL E G H	5644	167800	Hereditary pancreatitis	167800	C0238339	OMIM	1	738	9475	276000
HP:0001738	HP:0001738	Exocrine pancreatic insufficiency	0	SBDS CL E G H	51119	811	Balo disease			ORPHA	1	119	19440	607444
HP:0001738	HP:0001738	Exocrine pancreatic insufficiency	0	SBDS CL E G H	51119	260400	Shwachman syndrome	260400	C0272170	OMIM	1	119	19440	607444
HP:0001738	HP:0001738	Exocrine pancreatic insufficiency	0	SMAD4 CL E G H	4089	1333	Chromosome 19, ring		CN036553	ORPHA	1	1898	6770	600993
HP:0001738	HP:0001738	Exocrine pancreatic insufficiency	0	SPINK1 CL E G H	6690	167800	Hereditary pancreatitis	167800	C0238339	OMIM	1	198	11244	167790
HP:0001738	HP:0001738	Exocrine pancreatic insufficiency	0	SRP54 CL E G H	6729	811	Balo disease			ORPHA	1	204	11301	604857
HP:0001738	HP:0001738	Exocrine pancreatic insufficiency	0	SRP54 CL E G H	6729	260400	Shwachman syndrome	260400	C0272170	OMIM	1	204	11301	604857
HP:0001738	HP:0001738	Exocrine pancreatic insufficiency	0	STX1A CL E G H	6804	586	Al Gazali Khidr Prem Chandran syndrome			ORPHA	1	178	11433	186590
HP:0001738	HP:0001738	Exocrine pancreatic insufficiency	0	TGFB1 CL E G H	7040	586	Al Gazali Khidr Prem Chandran syndrome			ORPHA	1	286	11766	190180
HP:0001738	HP:0001738	Exocrine pancreatic insufficiency	0	TP53 CL E G H	7157	1333	Chromosome 19, ring		CN036553	ORPHA	1	2977	11998	191170
HP:0001738	HP:0001738	Exocrine pancreatic insufficiency	0	UBR1 CL E G H	197131	2315	Fetal warfarin syndrome			ORPHA	1	350	16808	605981
HP:0001738	HP:0001738	Exocrine pancreatic insufficiency	0	UBR1 CL E G H	197131	243800	Johanson-Blizzard syndrome	243800	C0175692	OMIM	1	350	16808	605981
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001738	HP:0001738	Exocrine pancreatic insufficiency	0	ARX CL E G H	170302	452				ORPHA	0	810	18060	300382
HP:0001738	HP:0001738	Exocrine pancreatic insufficiency	0	EIF2AK3 CL E G H	9451	1667	Dandy-Walker malformation with facial hemangioma			ORPHA	0	520	3255	604032
HP:0001738	HP:0001738	Exocrine pancreatic insufficiency	0	HFE CL E G H	3077	465508				ORPHA	0	237	4886	613609
HP:0001738	HP:0001738	Exocrine pancreatic insufficiency	0	HNF1B CL E G H	6928	137920	Familial hypoplastic, glomerulocystic kidney	137920	C0431693	OMIM	0	697	11630	189907
HP:0001738	HP:0001738	Exocrine pancreatic insufficiency	0	OFD1 CL E G H	8481	2750				ORPHA	0	1020	2567	300170
HP:0001738	HP:0001738	Exocrine pancreatic insufficiency	0	PUF60 CL E G H	22827	508488				ORPHA	0	228	17042	604819

Genes (31) :ARX BRCA1 BRCA2 CDKN2A CFTR CLCA4 COX4I2 CTNS DCTN4 DNAJC21 EFL1 EIF2AK3 GATA6 HFE HNF1B JAG1 KRAS OFD1 PALB2 PALLD PDX1 PRSS1 PUF60 SBDS SMAD4 SPINK1 SRP54 STX1A TGFB1 TP53 UBR1

Diseases (21) :452 1333 586 219700 612714 219800 811 617052 260400 617941 1667 2255 465508 137920 118450 2750 260370 167800 508488 2315 243800

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.

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