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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: Brachydactyly (D059327)
Parent Node: Deafness (D003638)
Parent Node: Intellectual Disability (D008607)
Parent Node: Mouth Abnormalities (D009056)
Parent Node: Tooth Abnormalities (D014071)
..Starting node ..Temtamy preaxial brachydactyly syndrome (C536958)
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:

10913

Name:

Temtamy preaxial brachydactyly syndrome

Definition:

Alternative IDs:

ParentIDs:

MESH:D003638|MESH:D008607|MESH:D009056|MESH:D014071|MESH:D059327

TreeNumbers:

C05.660.585.262/C536958 |C07.465.525/C536958 |C07.650.525/C536958 |C07.650.800/C536958 |C07.793.700/C536958 |C09.218.458.341.186/C536958 |C10.597.606.643/C536958 |C10.597.751.418.341.186/C536958 |C16.131.621.585.262/C536958 |C16.131.850.525/C536958 |C16.131.850.80

Synonyms:

Preaxial brachydactyly syndrome, Temtamy type

Slim Mappings:

Reference:

MedGen: C536958
MeSH: C536958
OMIM: 605282;

Genes: CHSY1;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0008619	Bilateral sensorineural hearing impairment
3	HP:0000592	Blue sclerae	HP:0040283
4	HP:0001156	Brachydactyly
5	HP:0009702	Carpal synostosis
6	HP:0000175	Cleft palate	HP:0040283
7	HP:0030084	Clinodactyly
8	HP:0002002	Deep philtrum
9	HP:0000699	Diastema
10	HP:0002553	Highly arched eyebrow
11	HP:0001234	Hitchhiker thumb
12	HP:0000691	Microdontia
13	HP:0000648	Optic atrophy	HP:0040283
14	HP:0002974	Radioulnar synostosis	HP:0040283
15	HP:0010049	Short metacarpal
16	HP:0010743	Short metatarsal
17	HP:0001159	Syndactyly
18	HP:0000664	Synophrys
19	HP:0011087	Talon cusp
20	HP:0008368	Tarsal synostosis

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_014918.4(CHSY1):c.1616C>G (p.Pro539Arg)	22856	CHSY1	Pathogenic	387906985	RCV000023692;	N	MedGen:C1854466,OMIM:605282,ORPHA:363417	15	101718386	101718386	NM_014918.4:c.1616C>G	NP_055733.2:p.Pro539Arg	NC_000015.9:g.101718386G>C	OMIM Allelic Variant:608183.0005	C1854466 605282 Temtamy preaxial brachydactyly syndrome
NM_014918.4(CHSY1):c.205C>T (p.Gln69Ter)	22856	CHSY1	Pathogenic	387906984	RCV000023690;	N	MedGen:C1854466,OMIM:605282,ORPHA:363417	15	101791457	101791457	NM_014918.4:c.205C>T	NP_055733.2:p.Gln69Ter	NC_000015.9:g.101791457G>A	OMIM Allelic Variant:608183.0003	C1854466 605282 Temtamy preaxial brachydactyly syndrome