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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

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

Disease Browser
Parent Node: Craniofacial Abnormalities (D019465)
Parent Node: Hair Diseases (D006201)
Parent Node: Tooth Abnormalities (D014071)
..Starting node ..TRICHODENTOOSSEOUS SYNDROME (OMIM:190320)
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:

11228

Name:

TRICHODENTOOSSEOUS SYNDROME

Definition:

Alternative IDs:

ParentIDs:

MESH:D006201|MESH:D014071|MESH:D019465

TreeNumbers:

C05.660.207/190320 |C07.650.800/190320 |C07.793.700/190320 |C16.131.621.207/190320 |C16.131.850.800/190320 |C17.800.329/190320

Synonyms:

TDO |TDO SYNDROME

Slim Mappings:

Congenital abnormality|Mouth disease|Musculoskeletal disease|Skin disease

Reference:

MedGen: 190320
MeSH: 190320
OMIM: 190320;

Genes: DLX3;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0001595	Abnormal hair morphology
3	HP:0000264	Abnormality of the mastoid
4	HP:0000268	Dolichocephaly
5	HP:0001808	Fragile nails
6	HP:0002007	Frontal bossing
7	HP:0011001	Increased bone mineral density
8	HP:0000691	Microdontia
9	HP:0000679	Taurodontia
10	HP:0000687	Widely spaced 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_005220.2(DLX3):c.571_574delGGGG (p.Gly191Argfs)	1747	DLX3	Pathogenic	387906405	RCV000009639;	N	MedGen:C0265333,OMIM:190320,ORPHA:3352,SNOMED CT:38993008	17	48069171	48069174	NM_005220.2:c.571_574delGGGG	NP_005211.1:p.Gly191Argfs	NC_000017.10:g.48069171_48069174delCCCC	OMIM Allelic Variant:600525.0001	C0265333 190320 Tricho-dento-osseous syndrome
NM_005220.2(DLX3):c.561_562delCT (p.Tyr188Glnfs)	1747	DLX3	Pathogenic	387906406	RCV000009641; RCV000009640;	N	MedGen:C0265333,OMIM:190320,ORPHA:3352,SNOMED CT:38993008; MedGen:C1863012,OMIM:104510	17	48069183	48069184	NM_005220.2:c.561_562delCT	NP_005211.1:p.Tyr188Glnfs	NC_000017.10:g.48069183_48069184delAG	OMIM Allelic Variant:600525.0002	C1863012 104510 Amelogenesis imperfecta, type IV; C0265333 190320 Tricho-dento-osseous syndrome