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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: Tooth Diseases (D014076)
..Starting node ..Failure of Tooth Eruption, Primary (C565114)
Child Nodes:
Sister Nodes:
..Bork Stender Schmidt syndrome (C536576)
..Bruxism (D002012) 2
..Dental Deposits (D003741) 3
..Dental Leakage (D003763)
..Dental Pulp Diseases (D003788) 8
..Dentin Sensitivity (D003807)
..Failure of Tooth Eruption, Primary (C565114)
..Fluorosis, Dental (D009050)
..Focal Infection, Dental (D005491)
..Hypercementosis (D006936)
..Hypoplasia of Teeth Roots (C564144)
..Malocclusion (D008310) 9
..Mouth, Edentulous (D009066) 2
..Tooth Abnormalities (D014071) 130
..Tooth Ankylosis (D020254) 1
..Tooth Demineralization (D017001) 6
..Tooth Discoloration (D014075) 1
..Tooth Eruption, Ectopic (D014079)
..Tooth Injuries (D018677) 3
..Tooth Loss (D016388)
..Tooth Resorption (D014091) 1
..Tooth Wear (D057085) 3
..Tooth, Impacted (D014095)
..Tooth, Unerupted (D014097)
..Toothache (D014098)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

4111

Name:

Failure of Tooth Eruption, Primary

Definition:

Alternative IDs:

OMIM:125350

ParentIDs:

MESH:D014076

TreeNumbers:

C07.793/C565114

Synonyms:

Slim Mappings:

Mouth disease

Reference:

MedGen: C565114
MeSH: C565114
OMIM: 125350;

Genes: PTH1R;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0006352	Failure of eruption of permanent teeth
3	HP:0000668	Hypodontia
4	HP:0006335	Persistence of primary teeth

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_000316.2(PTH1R):c.463G>T (p.Glu155Ter)	5745	PTH1R	Pathogenic	121434605	RCV000014761;	N	MedGen:C1852222,OMIM:125350	3	46939602	46939602	NM_000316.2:c.463G>T	NP_000307.1:p.Glu155Ter	NC_000003.11:g.46939602G>T	OMIM Allelic Variant:168468.0014	C1852222 125350 Failure of tooth eruption, primary