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

Grandparent Node:
Abnormality of the pancreas (HP:0001732)

Parent Node:
Abnormal pancreas morphology (HP:0012090)

..Starting node
..Pancreatic fibrosis (HP:0100732)

Term ID:

100732

Name:

Pancreatic fibrosis

Synonym:

Definition:

Comments:

Reference:

HP:0100732

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal pancreas size (HP:0012094)

Abnormal pancreatic duct morphology (HP:0030992)

Annular pancreas (HP:0001734)

Ectopic pancreatic tissue (HP:0006278)

Hyperechogenic pancreas (HP:0006276)

Pancreas divisum (HP:0030994)

Pancreatic abscess (HP:0025079)

Pancreatic calcification (HP:0005213)

Pancreatic cysts (HP:0001737)

Pancreatic dysplasia (HP:0005232)

Pancreatic fistula (HP:0100844)

Pancreatic lymphangiectasis (HP:0006273)

Pancreatic pseudocyst (HP:0005206)

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:0100732	HP:0100732	Pancreatic fibrosis	0	B9D1 CL E G H	27077	24123	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	28
HP:0100732	HP:0100732	Pancreatic fibrosis	0	B9D2 CL E G H	80776	28636	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	34
HP:0100732	HP:0100732	Pancreatic fibrosis	0	CC2D2A CL E G H	57545	29253	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	247
HP:0100732	HP:0100732	Pancreatic fibrosis	0	CEP290 CL E G H	80184	29021	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	342
HP:0100732	HP:0100732	Pancreatic fibrosis	0	CSPP1 CL E G H	79848	26193	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	57
HP:0100732	HP:0100732	Pancreatic fibrosis	0	DYNC2I1 CL E G H	55112	21862	OMIM:615503	Short rib-polydactyly syndrome, type VI	.
HP:0100732	HP:0100732	Pancreatic fibrosis	0	MKS1 CL E G H	54903	7121	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	127
HP:0100732	HP:0100732	Pancreatic fibrosis	0	NEK1 CL E G H	4750	7744	OMIM:263520	Short-Rib thoracic dysplasia 6 with or without polydactyly	HP:0040283 - Occasional	101
HP:0100732	HP:0100732	Pancreatic fibrosis	0	NPHP3 CL E G H	27031	7907	OMIM:208540	Renal-Hepatic-Pancreatic dysplasia	.	157
HP:0100732	HP:0100732	Pancreatic fibrosis	0	PTRH2 CL E G H	51651	24265	OMIM:616263	Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset	.	6
HP:0100732	HP:0100732	Pancreatic fibrosis	0	RPGRIP1 CL E G H	57096	13436	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	109
HP:0100732	HP:0100732	Pancreatic fibrosis	0	RPGRIP1L CL E G H	23322	29168	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	167
HP:0100732	HP:0100732	Pancreatic fibrosis	0	SLC37A4 CL E G H	2542	4061	OMIM:232220	Glycogen storage disease ib		110
HP:0100732	HP:0100732	Pancreatic fibrosis	0	TCTN1 CL E G H	79600	26113	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	45
HP:0100732	HP:0100732	Pancreatic fibrosis	0	TCTN2 CL E G H	79867	25774	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	76
HP:0100732	HP:0100732	Pancreatic fibrosis	0	TCTN3 CL E G H	26123	24519	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	31
HP:0100732	HP:0100732	Pancreatic fibrosis	0	TMEM107 CL E G H	84314	28128	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	4
HP:0100732	HP:0100732	Pancreatic fibrosis	0	TMEM216 CL E G H	51259	25018	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	45
HP:0100732	HP:0100732	Pancreatic fibrosis	0	TMEM231 CL E G H	79583	37234	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	33
HP:0100732	HP:0100732	Pancreatic fibrosis	0	TMEM237 CL E G H	65062	14432	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	82
HP:0100732	HP:0100732	Pancreatic fibrosis	0	TMEM67 CL E G H	91147	28396	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	166
HP:0100732	HP:0100732	Pancreatic fibrosis	0	TXNDC15 CL E G H	79770	20652	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	2

Genes (22) :B9D1 B9D2 CC2D2A CEP290 CSPP1 DYNC2I1 MKS1 NEK1 NPHP3 PTRH2 RPGRIP1 RPGRIP1L SLC37A4 TCTN1 TCTN2 TCTN3 TMEM107 TMEM216 TMEM231 TMEM237 TMEM67 TXNDC15

Diseases (6) :ORPHA:564 OMIM:615503 OMIM:263520 OMIM:208540 OMIM:616263 OMIM:232220

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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