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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: Abnormalities, Multiple (D000015)
Parent Node: Limb Deformities, Congenital (D017880)
Parent Node: Tooth Abnormalities (D014071)
..Starting node ..Weyers acrofacial dysostosis (C536695)
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:

11734

Name:

Weyers acrofacial dysostosis

Definition:

Alternative IDs:

OMIM:193530

ParentIDs:

MESH:D000015|MESH:D014071|MESH:D017880

TreeNumbers:

C05.660.585/C536695 |C07.650.800/C536695 |C07.793.700/C536695 |C16.131.077/C536695 |C16.131.621.585/C536695 |C16.131.850.800/C536695

Synonyms:

Slim Mappings:

Congenital abnormality|Mouth disease|Musculoskeletal disease

Reference:

MedGen: C536695
MeSH: C536695
OMIM: 193530;

Genes: EVC;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0001156	Brachydactyly
3	HP:0004209	Clinodactyly of the 5th finger
4	HP:0000698	Conical tooth
5	HP:0000601	Hypotelorism
6	HP:0003502	Mild short stature
7	HP:0002164	Nail dysplasia
8	HP:0001830	Postaxial foot polydactyly
9	HP:0001162	Postaxial hand polydactyly
10	HP:0000395	Prominent antihelix
11	HP:0004279	Short palm
12	HP:0001792	Small nail
13	HP:0006315	Solitary median maxillary central incisor

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_153717.2(EVC):c.919T>C (p.Ser307Pro)	2121	EVC	Pathogenic	121908426	RCV000005672; RCV000005671;	N	MedGen:C0013903,OMIM:225500,ORPHA:289,SNOMED CT:62501005; MedGen:C0457013,OMIM:193530,ORPHA:952,SNOMED CT:277807007	4	5747048	5747048	NM_153717.2:c.919T>C	NP_714928.1:p.Ser307Pro	NC_000004.11:g.5747048T>C	OMIM Allelic Variant:604831.0006	C0013903 225500 Chondroectodermal dysplasia; C0457013 193530 Curry-Hall syndrome
NM_147127.4(EVC2):c.3793delC (p.Leu1265Tyrfs)	132884	EVC2	Pathogenic	587776568	RCV000003555;	N	MedGen:C0457013,OMIM:193530,ORPHA:952,SNOMED CT:277807007	4	5564709	5564709	NM_147127.4:c.3793delC	NP_667338.3:p.Leu1265Tyrfs		OMIM Allelic Variant:607261.0009	C0457013 193530 Curry-Hall syndrome