Human Phenotype Ontology

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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

Human Phenotype Ontology

Grandparent Node:
Abnormality of the skeletal system (HP:0000924)

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Parent Node:
Abnormal pancreas morphology (HP:0012090)

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Parent Node:
Ectopic calcification (HP:0010766)

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..Starting node
..Pancreatic calcification (HP:0005213)

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Term ID:

5213

Name:

Pancreatic calcification

Synonym:

Pancreatic calcifications

Definition:

The presence of abnormal calcium deposition lesions in the pancreas.

Comments:

Reference:

Genes and Diseases:

Child Nodes:

Sister Nodes:

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Abnormal calcification of the carpal bones (HP:0009164)

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Adrenal calcification (HP:0010512)

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Calcific stippling (HP:0002832)

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Calcification of cartilage (HP:0100593)

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Calcification of muscles (HP:0100249)

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Calcification of ribs (HP:0040059)

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Calcinosis cutis (HP:0025520)

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Cardiovascular calcification (HP:0011915)

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Cerebellar calcifications (HP:0007352)

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Cerebral calcification (HP:0002514)

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Chondrocalcinosis (HP:0000934)

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Epiphyseal stippling (HP:0010655)

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Gingival calcification (HP:0025141)

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Gonadal calcification (HP:0008703)

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Hepatic calcification (HP:0006559)

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Intervertebral disk calcification (HP:0005645)

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Intraalveolar nodular calcifications (HP:0006514)

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Laryngeal calcification (HP:0008754)

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Periarticular calcification (HP:0025477)

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Punctate vertebral calcifications (HP:0008420)

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Retinal calcification (HP:0007862)

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Sternal punctate calcifications (HP:0006637)

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Subcutaneous calcification (HP:0007618)

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Tarsal stippling (HP:0008131)

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Tracheal calcification (HP:0002787)

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Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	Onset	HGMD variants	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0005213	HP:0005213	Pancreatic calcification	0	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040283 - Occasional			415
HP:0005213	HP:0005213	Pancreatic calcification	0	CASR CL E G H	846	1514	ORPHA:676	Hereditary chronic pancreatitis	HP:0040283 - Occasional			272
HP:0005213	HP:0005213	Pancreatic calcification	0	CFTR CL E G H	1080	1884	ORPHA:676	Hereditary chronic pancreatitis	HP:0040283 - Occasional			1371
HP:0005213	HP:0005213	Pancreatic calcification	0	CFTR CL E G H	1080	1884	OMIM:167800	Pancreatitis, hereditary	.			1371
HP:0005213	HP:0005213	Pancreatic calcification	0	CPA1 CL E G H	1357	2296	ORPHA:676	Hereditary chronic pancreatitis	HP:0040283 - Occasional			5
HP:0005213	HP:0005213	Pancreatic calcification	0	CTRC CL E G H	11330	2523	ORPHA:676	Hereditary chronic pancreatitis	HP:0040283 - Occasional			39
HP:0005213	HP:0005213	Pancreatic calcification	0	CTRC CL E G H	11330	2523	OMIM:167800	Pancreatitis, hereditary	.			39
HP:0005213	HP:0005213	Pancreatic calcification	0	CTRC CL E G H	11330	2523	ORPHA:103918	Tropical pancreatitis				39
HP:0005213	HP:0005213	Pancreatic calcification	0	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040283 - Occasional			151
HP:0005213	HP:0005213	Pancreatic calcification	0	PRSS1 CL E G H	5644	9475	ORPHA:676	Hereditary chronic pancreatitis	HP:0040283 - Occasional			51
HP:0005213	HP:0005213	Pancreatic calcification	0	PRSS1 CL E G H	5644	9475	OMIM:167800	Pancreatitis, hereditary	.			51
HP:0005213	HP:0005213	Pancreatic calcification	0	PRSS2 CL E G H	5645	9483	ORPHA:676	Hereditary chronic pancreatitis	HP:0040283 - Occasional			1
HP:0005213	HP:0005213	Pancreatic calcification	0	PRSS2 CL E G H	5645	9483	OMIM:167800	Pancreatitis, hereditary	.			1
HP:0005213	HP:0005213	Pancreatic calcification	0	SPINK1 CL E G H	6690	11244	ORPHA:676	Hereditary chronic pancreatitis	HP:0040283 - Occasional			34
HP:0005213	HP:0005213	Pancreatic calcification	0	SPINK1 CL E G H	6690	11244	OMIM:167800	Pancreatitis, hereditary	.			34
HP:0005213	HP:0005213	Pancreatic calcification	0	SPINK1 CL E G H	6690	11244	OMIM:608189	Tropical calcific pancreatitis				34
HP:0005213	HP:0005213	Pancreatic calcification	0	SPINK1 CL E G H	6690	11244	ORPHA:103918	Tropical pancreatitis				34

Genes (9) :ABCC6 CASR CFTR CPA1 CTRC ENPP1 PRSS1 PRSS2 SPINK1

Diseases (5) :ORPHA:51608 ORPHA:676 OMIM:167800 ORPHA:103918 OMIM:608189

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

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