Disease browser and phenotype portal

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

Hello! Guest! Please Login or Register! Clinician Mode

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

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

Disease Browser
Parent Node: Tooth Abnormalities (D014071)
..Starting node ..Anodontia (D000848)
Child Nodes:
........Aloi Tomasini Isaia syndrome (C537049)
........Anodontia of Permanent Dentition (C563203)
........AXENFELD-RIEGER SYNDROME, TYPE 1 (OMIM:180500)
........AXENFELD-RIEGER SYNDROME, TYPE 2 (OMIM:601499)
........Brachymetapody-Anodontia-Hypotrichosis-Albinoidism (C565893)
........Cleft Palate, Deafness, and Oligodontia (C565844)
........Deafness oligodontia syndrome (C538049)
........Dermatoosteolysis Kirghizian type (C535373)
........Ectodermal Dysplasia, Trichoodontoonychial Type (C565068)
........Epidermolysis bullosa, late-onset localized junctional, with mental retardation (C535492)
........Growth retardation, Alopecia, Pseudoanodontia and Optic atrophy (C535642)
........Hypodontia Oligodontia with Orofacial Cleft (C566995)
........Leukodystrophy, Dysmyelinating, with Oligodontia (C564344)
........Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism (C567313)
........Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis (C565440)
........Mehta Lewis Patton syndrome (C536147)
........Microdontia hypodontia short stature (C537553)
........Oligodontia-Colorectal Cancer Syndrome (C563898)
........Pinheiro Freire-Maia Miranda syndrome (C537402)
........Propping Zerres syndrome (C538052)
........Schopf-Schulz-Passarge Syndrome (C565607)
........Single upper central incisor (C537342)
........Split-Hand And Split-Foot With Hypodontia (C566665)
........Taurodontia absent teeth sparse hair (C536945)
........Thai Symphalangism Syndrome (C564303)
........Thumb deformity, alopecia, pigmentation anomaly (C536904)
........Tooth Agenesis, Selective, With Orofacial Cleft (C566994)
........Witkop syndrome (C536736)
........Zadik Barak Levin syndrome (C536721)
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:

721

Name:

Anodontia

Definition:

Congenital absence of the teeth; it may involve all (total anodontia) or only some of the teeth (partial anodontia, hypodontia), and both the deciduous and the permanent dentition, or only teeth of the permanent dentition. (Dorland, 27th ed)

Alternative IDs:

OMIM:106600

ParentIDs:

MESH:D014071

TreeNumbers:

C07.650.800.100 |C07.793.700.100 |C16.131.850.800.100

Synonyms:

Slim Mappings:

Congenital abnormality|Mouth disease

Reference:

MedGen: D000848
MeSH: D000848
OMIM: 106600;

Genes: MSX1;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0000668	Hypodontia

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_002448.3(MSX1):c.200T>A (p.Met67Lys)	4487	MSX1	Pathogenic	121913130	RCV000016015;	N	MedGen:C3489529,OMIM:106600	4	4861826	4861826	NM_002448.3:c.200T>A	NP_002439.2:p.Met67Lys	NC_000004.11:g.4861826T>A	OMIM Allelic Variant:142983.0008	C3489529 106600 Selective tooth agenesis 1
NM_002448.3(MSX1):c.577C>T (p.Gln193Ter)	4487	MSX1	Pathogenic	104893850	RCV000016010;	N	MedGen:C3489529,OMIM:106600	4	4864535	4864535	NM_002448.3:c.577C>T	NP_002439.2:p.Gln193Ter	NC_000004.11:g.4864535C>T	OMIM Allelic Variant:142983.0006	C3489529 106600 Selective tooth agenesis 1
NM_002448.3(MSX1):c.605G>C (p.Arg202Pro)	4487	MSX1	Pathogenic	121913129	RCV000016008;	N	MedGen:C3489529,OMIM:106600	4	4864563	4864563	NM_002448.3:c.605G>C	NP_002439.2:p.Arg202Pro	NC_000004.11:g.4864563G>C	OMIM Allelic Variant:142983.0001	C3489529 106600 Selective tooth agenesis 1
NM_002448.3(MSX1):c.910_911dupTA (p.Ter304Tyrfs)	4487	MSX1	Pathogenic	515726227	RCV000157079;	N	MedGen:C3489529,OMIM:106600	4	4864868	4864869	NM_002448.3:c.910_911dupTA	NP_002439.2:p.Ter304Tyrfs		VariO:0033	C3489529 106600 Selective tooth agenesis 1