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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

Hearing Loss Disease Portal

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Tooth Abnormalities (D014071)
..Starting node ..Tooth Agenesis, Selective, 3 (C567036)
Child Nodes:
Sister Nodes:
..Ackerman syndrome (C538170)
..Anodontia (D000848) 29
..AREDYLD Syndrome (C537427)
..Blepharo-cheilo-dontic syndrome (C536188)
..Book Syndrome (C562993)
..Carabelli Anomaly of Maxillary Molar Teeth (C566175)
..Cleidocranial Dysplasia, Forme Fruste, Dental Anomalies Only (C563974)
..CODAS syndrome (C536434)
..Deafness with Labyrinthine Aplasia Microtia and Microdontia (LAMM) (C548011)
..Deafness, Congenital, and Onychodystrophy, Autosomal Dominant (C567274)
..Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia (C565195)
..Dens in Dente (D003719) 1
..Dental Enamel Hypoplasia (D003744) 29
..Dentin Dysplasia (D003805) 3
..Dentinogenesis Imperfecta (D003811) 7
..Dermoodontodysplasia (C565103)
..Diastema, Dental Medial (C565098)
..Euhidrotic ectodermal dysplasia (C535763)
..Facial Dysmorphism, Selective Tooth Agenesis, and Choroid Calcification (C567039)
..Faciocardiomelic Dysplasia, Lethal (C565578)
..Fused Teeth (D005671)
..Grubben de Cock Borghgraef syndrome (C537621)
..Hypoglossia-Hypodactylia (C566308)
..Iridogoniodysgenesis, dominant type (C535536)
..Kallmann Syndrome 2 with Selective Tooth Agenesis (C566948)
..KBG syndrome (C537015)
..Lacrimoauriculodentodigital syndrome (C538132)
..Larsen syndrome, dominant type (C537873)
..Nance-Horan syndrome (C538336)
..Oculodentodigital Dysplasia (C563160)
..Oculodentodigital Dysplasia, Autosomal Recessive (C567605)
..Oculotrichodysplasia (C564934)
..Odontodysplasia (D018126) 3
..Odontomicronychial dysplasia (C537741)
..Odontotrichoungual-Digital-Palmar Syndrome (C566598)
..Oroacral Syndrome, Verloes-Koulischer Type (C566374)
..Otodental Dysplasia (C563482)
..Polydactyly, Postaxial, with Dental and Vertebral Anomalies (C564880)
..Rodrigues blindness (C535865)
..Spondyloepimetaphyseal Dysplasia With Abnormal Dentition (C566644)
..Taurodontism (C536946)
..Taurodontism, microdontia, and dens invaginatus (C536947)
..Teeth noneruption of with maxillary hypoplasia and genu valgum (C536952)
..Teeth, Odd Shapes Of (C566076)
..Temtamy preaxial brachydactyly syndrome (C536958)
..Tooth Agenesis, Selective, 2 (C566513)
..Tooth Agenesis, Selective, 3 (C567036)
..Tooth Agenesis, Selective, 4 (C563634)
..Tooth Agenesis, Selective, 5 (C565757)
..Tooth Agenesis, Selective, 6 (C567755)
..Tooth Agenesis, Selective, X-Linked, 1 (C567060)
..Tooth, Supernumerary (D014096) 3
..Tricho-dento-osseous syndrome 1 (C536550)
..TRICHODENTOOSSEOUS SYNDROME (OMIM:190320)
..Weyers acrofacial dysostosis (C536695)
..Zazam Sheriff Phillips syndrome (C536723)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

11134

Name:

Tooth Agenesis, Selective, 3

Definition:

Alternative IDs:

OMIM:604625

ParentIDs:

MESH:D014071

TreeNumbers:

C07.650.800/C567036 |C07.793.700/C567036 |C16.131.850.800/C567036

Synonyms:

Hypodontia/Oligodontia 3 |STHAG3

Slim Mappings:

Congenital abnormality|Mouth disease

Reference:

MedGen: C567036
MeSH: C567036
OMIM: 604625;

Genes: PAX9;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0000691	Microdontia	HP:0040283
3	HP:0000677	Oligodontia

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
NM_006194.3(PAX9):c.62T>C (p.Leu21Pro)	5083	PAX9	Pathogenic	28933970	RCV000014781;	N	MedGen:C1970291,OMIM:604625	14	37132159	37132159	NM_006194.3:c.62T>C	NP_006185.1:p.Leu21Pro	NC_000014.8:g.37132159T>C	OMIM Allelic Variant:167416.0005	C1970291 604625 Tooth agenesis, selective, 3
NM_006194.3(PAX9):c.76C>T (p.Arg26Trp)	5083	PAX9	Pathogenic	28933972	RCV000014784;	N	MedGen:C1970291,OMIM:604625	14	37132173	37132173	NM_006194.3:c.76C>T	NP_006185.1:p.Arg26Trp	NC_000014.8:g.37132173C>T	OMIM Allelic Variant:167416.0008	C1970291 604625 Tooth agenesis, selective, 3
NM_006194.3(PAX9):c.83G>C (p.Arg28Pro)	5083	PAX9	Pathogenic	28933971	RCV000014783;	N	MedGen:C1970291,OMIM:604625	14	37132180	37132180	NM_006194.3:c.83G>C	NP_006185.1:p.Arg28Pro	NC_000014.8:g.37132180G>C	OMIM Allelic Variant:167416.0007	C1970291 604625 Tooth agenesis, selective, 3
NM_006194.3(PAX9):c.139C>T (p.Arg47Trp)	5083	PAX9	Pathogenic	121917720	RCV000014791;	N	MedGen:C1970291,OMIM:604625	14	37132236	37132236	NM_006194.3:c.139C>T	NP_006185.1:p.Arg47Trp	NC_000014.8:g.37132236C>T	OMIM Allelic Variant:167416.0015	C1970291 604625 Tooth agenesis, selective, 3
NM_006194.3(PAX9):c.151G>A (p.Gly51Ser)	5083	PAX9	Pathogenic	104894469	RCV000014789;	N	MedGen:C1970291,OMIM:604625	14	37132248	37132248	NM_006194.3:c.151G>A	NP_006185.1:p.Gly51Ser	NC_000014.8:g.37132248G>A	OMIM Allelic Variant:167416.0013	C1970291 604625 Tooth agenesis, selective, 3
NM_006194.3(PAX9):c.259A>T (p.Ile87Phe)	5083	PAX9	Pathogenic	104894468	RCV000014785;	N	MedGen:C1970291,OMIM:604625	14	37132356	37132356	NM_006194.3:c.259A>T	NP_006185.1:p.Ile87Phe	NC_000014.8:g.37132356A>T	OMIM Allelic Variant:167416.0009	C1970291 604625 Tooth agenesis, selective, 3
NM_006194.3(PAX9):c.271A>G (p.Lys91Glu)	5083	PAX9	Pathogenic	28933373	RCV000014780;	N	MedGen:C1970291,OMIM:604625	14	37132368	37132368	NM_006194.3:c.271A>G	NP_006185.1:p.Lys91Glu	NC_000014.8:g.37132368A>G	OMIM Allelic Variant:167416.0004	C1970291 604625 Tooth agenesis, selective, 3
NM_006194.3(PAX9):c.336C>G (p.Cys112Trp)	5083	PAX9	not provided	587776350	RCV000144943;	N	MedGen:C1970291,OMIM:604625	14	37132433	37132433	NM_006194.3:c.336C>G	NP_006185.1:p.Cys112Trp	NC_000014.8:g.37132433C>G	-	C1970291 604625 Tooth agenesis, selective, 3
NM_006194.3(PAX9):c.340A>T (p.Lys114Ter)	5083	PAX9	Pathogenic	104894467	RCV000014778;	N	MedGen:C1970291,OMIM:604625	14	37132437	37132437	NM_006194.3:c.340A>T	NP_006185.1:p.Lys114Ter	NC_000014.8:g.37132437A>T	OMIM Allelic Variant:167416.0002	C1970291 604625 Tooth agenesis, selective, 3