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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)
..Starting node ..Brachydactyly type C (C537093)
Child Nodes:
Sister Nodes:
..Acrocapitofemoral Dysplasia (C564334)
..Anonychia-onychodystrophy with brachydactyly type B and ectrodactyly (C536379)
..Arterial Occlusive Disease, Progressive, with Hypertension, Heart Defects, Bone Fragility, and Brachysyndactyly (C566529)
..Berk-Tabatznik syndrome (C535432)
..Bork Stender Schmidt syndrome (C536576)
..Brachydactyly preaxial with hallux varus and thumb abduction (C537087)
..Brachydactyly type A1 (C537088)
..Brachydactyly type A2 (C537089)
..Brachydactyly type A3 (C537090)
..Brachydactyly type A5 nail dysplasia (C537091)
..Brachydactyly type A6 (C537092)
..Brachydactyly type C (C537093)
..Brachydactyly types B and E combined (C537094)
..Brachydactyly with hypertension (C537095)
..Brachydactyly, Coloboma, And Anterior Segment Dysgenesis (C566484)
..Brachydactyly, Intraventricular Septal Defect, And Deafness (C566521)
..Brachydactyly, Long-Thumb Type (C566204)
..Brachydactyly, Type A1, B (C564635)
..Brachydactyly, Type A2, With Microcephaly (C565894)
..Brachydactyly, Type B1 (C566196)
..BRACHYDACTYLY, TYPE B2 (OMIM:611377)
..Brachydactyly, Type D (C562420)
..Brachydactyly, Type E (C566194) 1
..Brachydactyly, Type E, with Atrial Septal Defect, Type II (C566193)
..BRACHYDACTYLY-MENTAL RETARDATION SYNDROME (OMIM:600430)
..Brachydactyly-Nystagmus-Cerebellar Ataxia (C566192)
..Brachydactyly-Syndactyly Syndrome (C565193)
..Brachymesophalangy 2 and 5 (C537097)
..Cleidocranial Dysplasia, Forme Fruste, With Brachydactyly (C566119)
..Coloboma of Macula and Skeletal Anomalies (C565686)
..Coloboma of macula type B brachydactyly (C535969)
..Cryptomicrotia brachydactyly syndrome (C536219)
..Digital Arthropathy-Brachydactyly, Familial (C564656)
..Exostoses with Anetodermia and Brachydactyly, Type E (C565034)
..Fibular aplasia ectrodactyly (C537930)
..Fibular hypoplasia and complex brachydactyly (C537931)
..Fitzsimmons-Guilbert syndrome (C537938)
..GOMBO syndrome (C537284)
..Heart-hand syndrome, Spanish type (C535853)
..Hirschsprung disease type d brachydactyly (C538319)
..Metaphyseal Dysplasia with Maxillary Hypoplasia and Brachydactyly (C563586)
..MULTIPLE SYNOSTOSES SYNDROME 1 (OMIM:186500)
..Prata Libéral Gonçalves syndrome (C538277)
..Prolonged Bleeding Time, Brachydactyly, and Mental Retardation (C564207)
..Robin Sequence with Distinctive Facial Appearance and Brachydactyly (C563880)
..Short Stature, Facial Dysmorphism, Severe Brachydactyly, and Syndactyly (C567093)
..Sillence syndrome (C537338)
..Spondyloepiphyseal Dysplasia-Brachydactyly and Distinctive Speech (C567128)
..Synostosis, Carpal, with Dysplastic Elbow Joints and Brachydactyly (C566090)
..Temtamy preaxial brachydactyly syndrome (C536958)
..Thumbs, Stiff, With Brachydactyly Type A1 And Developmental Delay (C566053)
..Tonoki syndrome (C536967)
..Ulnar/Fibular Ray Defect and Brachydactyly (C563905)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

1422

Name:

Brachydactyly type C

Definition:

Alternative IDs:

OMIM:113100

ParentIDs:

MESH:D059327

TreeNumbers:

C05.660.585.262/C537093 |C16.131.621.585.262/C537093

Synonyms:

BDC |Brachydactyly Haws type |Brachydactyly, Haws Type |Brachydactyly, Type C

Slim Mappings:

Congenital abnormality|Musculoskeletal disease

Reference:

MedGen: C537093
MeSH: C537093
OMIM: 113100;

Genes: GDF5;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0001156	Brachydactyly
3	HP:0004209	Clinodactyly of the 5th finger	HP:0040282
4	HP:0010259	Cone-shaped epiphyses of the middle phalanges of the hand	HP:0040281
5	HP:0002750	Delayed skeletal maturation	HP:0040283
6	HP:0009516	Enlarged epiphysis of the middle phalanx of the 2nd finger	HP:0040282
7	HP:0009324	Enlarged epiphysis of the middle phalanx of the 3rd finger	HP:0040282
8	HP:0009527	Enlarged epiphysis of the proximal phalanx of the 2nd finger	HP:0040282
9	HP:0009349	Enlarged epiphysis of the proximal phalanx of the 3rd finger	HP:0040282
10	HP:0006206	Hypersegmentation of proximal phalanx of second finger
11	HP:0011929	Hypersegmentation of proximal phalanx of third finger
12	HP:0003067	Madelung deformity
13	HP:0010442	Polydactyly
14	HP:0009495	Pseudoepiphyses of the 2nd finger	HP:0040281
15	HP:0009417	Pseudoepiphyses of the 3rd finger	HP:0040281
16	HP:0010034	Short 1st metacarpal	HP:0040282
17	HP:0009536	Short 2nd finger	HP:0040281
18	HP:0009461	Short 3rd finger	HP:0040281
19	HP:0005819	Short middle phalanx of finger	HP:0040281
20	HP:0004322	Short stature	HP:0040282
21	HP:0001772	Talipes equinovalgus	HP:0040283
22	HP:0001762	Talipes equinovarus	HP:0040283
23	HP:0009523	Triangular epiphysis of the middle phalanx of the 2nd finger	HP:0040282
24	HP:0009331	Triangular epiphysis of the middle phalanx of the 3rd finger	HP:0040282
25	HP:0009534	Triangular epiphysis of the proximal phalanx of the 2nd finger	HP:0040282
26	HP:0009356	Triangular epiphysis of the proximal phalanx of the 3rd finger	HP:0040282
27	HP:0009575	Triangular shaped middle phalanx of the 2nd finger	HP:0040282
28	HP:0009436	Triangular shaped middle phalanx of the 3rd finger	HP:0040282
29	HP:0009587	Triangular shaped proximal phalanx of the 2nd finger	HP:0040282
30	HP:0009456	Triangular shaped proximal phalanx of the 3rd finger	HP:0040282
31	HP:0009464	Ulnar deviation of the 2nd finger	HP:0040282
32	HP:0009463	Ulnar deviation of the 3rd finger	HP:0040282

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_000557.4(GDF5):c.1461T>G (p.Tyr487Ter)	-1	-	Pathogenic	121909348	RCV000008899;	N	MedGen:C1862103,OMIM:113100	20	34021752	34021752	NM_000557.4:c.1461T>G	NP_000548.2:p.Tyr487Ter	NC_000020.10:g.34021752A>C	OMIM Allelic Variant:601146.0016	C1862103 113100 Brachydactyly type C
NM_000557.4(GDF5):c.901C>T (p.Arg301Ter)	-1	-	Pathogenic	74315386	RCV000008884;	N	MedGen:C1862103,OMIM:113100	20	34022312	34022312	NM_000557.4:c.901C>T	NP_000548.2:p.Arg301Ter	NC_000020.10:g.34022312G>A	OMIM Allelic Variant:601146.0002	C1862103 113100 Brachydactyly type C
NM_000557.4(GDF5):c.517A>G (p.Met173Val)	8200	GDF5	Pathogenic	28936397	RCV000008891;	N	MedGen:C1862103,OMIM:113100	20	34025192	34025192	NM_000557.4:c.517A>G	NP_000548.2:p.Met173Val	NC_000020.10:g.34025192T>C	OMIM Allelic Variant:601146.0008	C1862103 113100 Brachydactyly type C