Disease browser and phenotype portal

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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

Disease Browser
Parent Node: Calcinosis (D002114)
Parent Node: Pancreatitis, Chronic (D050500)
..Starting node ..Tropical Calcific Pancreatitis (C564276)
Child Nodes:
Sister Nodes:
..Hereditary pancreatitis (C537262)
..Pancreatitis, Calcific (C566837)
..Pancreatitis, Sclerosing Cholangitis, and Sicca Complex (C564906)
..Tropical Calcific Pancreatitis (C564276)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

11293

Name:

Tropical Calcific Pancreatitis

Definition:

Alternative IDs:

OMIM:608189

ParentIDs:

MESH:D002114|MESH:D050500

TreeNumbers:

C06.689.750.830/C564276 |C18.452.174.130/C564276

Synonyms:

TCP

Slim Mappings:

Digestive system disease|Metabolic disease

Reference:

MedGen: C564276
MeSH: C564276
OMIM: 608189;

Genes: SPINK1;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0000007	Autosomal recessive inheritance
3	HP:0002027	Abdominal pain
4	HP:0006280	Chronic pancreatitis
5	HP:0008205	Insulin-dependent but ketosis-resistant diabetes
6	HP:0002894	Neoplasm of the pancreas
7	HP:0005213	Pancreatic calcification

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar	Disease_hgmd
NM_003122.4(SPINK1):c.101A>G (p.Asn34Ser)	6690	SPINK1	Pathogenic;risk factor	17107315	RCV000014768; RCV000119030; RCV000014769; RCV000014770;	N	; MedGen:C0238339,OMIM:167800,SNOMED CT:68072000; MedGen:C1842402,OMIM:608189,ORPHA:103918; MedGen:C1969419	5	147207678	147207678	NM_003122.4:c.101A>G	NP_003113.2:p.Asn34Ser	NC_000005.9:g.147207678T>C	OMIM Allelic Variant:167790.0001	C0238339 167800 Hereditary pancreatitis; C1969419 Pancreatitis, chronic, susceptibility to; C1842402 608189 Tropical calcific pancreatitis