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: Dental Pulp Calcification (D003784)
Parent Node: Dentin Dysplasia (D003805)
..Starting node ..DENTIN DYSPLASIA, TYPE II (OMIM:125420)
Child Nodes:
Sister Nodes:
..Dentin dysplasia sclerotic bones (C538213)
..Dentin dysplasia, type 1 (C538215)
..DENTIN DYSPLASIA, TYPE II (OMIM:125420)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

3198

Name:

DENTIN DYSPLASIA, TYPE II

Definition:

Alternative IDs:

ParentIDs:

MESH:D003784|MESH:D003805

TreeNumbers:

C07.650.800.260/125420 |C07.793.237.252/125420 |C07.793.700.260/125420 |C16.131.850.800.260/125420

Synonyms:

Slim Mappings:

Congenital abnormality|Mouth disease

Reference:

MedGen: 125420
MeSH: 125420
OMIM: 125420;

Genes: DSPP;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0011060	Dentinogenesis imperfecta limited to primary teeth
3	HP:0003771	Pulp 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_014208.3(DSPP):c.16T>G (p.Tyr6Asp)	1834	DSPP	Pathogenic	121912988	RCV000018353;	N	MedGen:C1527284,OMIM:125420,SNOMED CT:57602001	4	88532076	88532076	NM_014208.3:c.16T>G	NP_055023.2:p.Tyr6Asp	NC_000004.11:g.88532076T>G	OMIM Allelic Variant:125485.0005	C1527284 125420 Denticles