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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: Dentinogenesis Imperfecta (D003811)
..Starting node ..Dentinogenesis imperfecta, shields type 3 (C538216)
Child Nodes:
Sister Nodes:
..Cortical Defects, Wormian Bones, and Dentinogenesis Imperfecta (C565734)
..Deafness, Autosomal Dominant 39, with Dentinogenesis Imperfecta 1 (C565316)
..Dentinogenesis imperfecta, shields type 3 (C538216)
..Opalescent dentin (C531665)
..Osteogenesis Imperfecta with Opalescent Teeth, Blue Sclerae and Wormian Bones, but Without Fractures (C563487)
..Osteogenesis imperfecta, type 1A (C536041)
..Spondylometaphyseal dysplasia with dentinogenesis imperfecta (C535792)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

3200

Name:

Dentinogenesis imperfecta, shields type 3

Definition:

Alternative IDs:

OMIM:125500

ParentIDs:

MESH:D003811

TreeNumbers:

C07.650.800.270/C538216 |C07.793.700.270/C538216 |C16.131.850.800.270/C538216

Synonyms:

Brandywine type dentinogenesis imperfecta |Dentinogenesis Imperfecta, Shields Type III |DGI-III

Slim Mappings:

Congenital abnormality|Mouth disease

Reference:

MedGen: C538216
MeSH: C538216
OMIM: 125500;

Genes: DSPP;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0000703	Dentinogenesis imperfecta
3	HP:0000694	Odontodysplasia
4	HP:0000700	Periapical bone loss

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.52G>T (p.Val18Phe)	1834	DSPP	Pathogenic	121912987	RCV000018351; RCV000018350; RCV000018352;	N	MedGen:C0205730,OMIM:125490,SNOMED CT:234969005; MedGen:C0399378,OMIM:125500,ORPHA:166265,SNOMED CT:234970006; MedGen:C4016014	4	88533257	88533257	NM_014208.3:c.52G>T	NP_055023.2:p.Val18Phe	NC_000004.11:g.88533257G>T	OMIM Allelic Variant:125485.0004	C4016014 Deafness, autosomal dominant nonsyndromic sensorineural 39, with dentinogenesis imperfecta 1; C0205730 125490 Dentinogenesis imperfecta - Shield's type II; C0399378 125500 Dentinogenesis imperfecta - Shield's type III