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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 B1 (C566196)
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:

1420

Name:

Brachydactyly, Type B1

Definition:

Alternative IDs:

OMIM:113000

ParentIDs:

MESH:D059327

TreeNumbers:

C05.660.585.262/C566196 |C16.131.621.585.262/C566196

Synonyms:

BDB |BDB1 |Brachydactyly, Type B

Slim Mappings:

Congenital abnormality|Musculoskeletal disease

Reference:

MedGen: C566196
MeSH: C566196
OMIM: 113000;

Genes: ROR2;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0001798	Anonychia
3	HP:0010185	Aplasia/Hypoplasia of the distal phalanges of the toes
4	HP:0011304	Broad thumb
5	HP:0012385	Camptodactyly
6	HP:0010554	Cutaneous finger syndactyly	HP:0040283
7	HP:0000270	Delayed cranial suture closure
8	HP:0000696	Delayed eruption of permanent teeth
9	HP:0002937	Hemivertebrae
10	HP:0001804	Hypoplastic fingernail
11	HP:0004590	Hypoplastic sacrum
12	HP:0009473	Joint contracture of the hand
13	HP:0000054	Micropenis
14	HP:0003026	Short long bone
15	HP:0005819	Short middle phalanx of finger
16	HP:0001159	Syndactyly
17	HP:0002944	Thoracolumbar scoliosis
18	HP:0005831	Type B brachydactyly
19	HP:0001629	Ventricular septal defect
20	HP:0002948	Vertebral fusion
21	HP:0000260	Wide anterior fontanel

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_004560.3(ROR2):c.2265C>A (p.Tyr755Ter)	4920	ROR2	Pathogenic	121909082	RCV000007727;	N	MedGen:C1862112,OMIM:113000	9	94486511	94486511	NM_004560.3:c.2265C>A	NP_004551.2:p.Tyr755Ter	NC_000009.11:g.94486511G>T	OMIM Allelic Variant:602337.0001	C1862112 113000 Brachydactyly type B1
NM_004560.3(ROR2):c.2249delG (p.Gly750Alafs)	4920	ROR2	Pathogenic	863223289	RCV000007729;	N	MedGen:C1862112,OMIM:113000	9	94486527	94486527	NM_004560.3:c.2249delG	NP_004551.2:p.Gly750Alafs	NC_000009.11:g.94486527delC	OMIM Allelic Variant:602337.0003	C1862112 113000 Brachydactyly type B1
NM_004560.3(ROR2):c.2247G>A (p.Trp749Ter)	4920	ROR2	Pathogenic	104894121	RCV000007736;	N	MedGen:C1862112,OMIM:113000	9	94486529	94486529	NM_004560.3:c.2247G>A	NP_004551.2:p.Trp749Ter	NC_000009.11:g.94486529C>T	OMIM Allelic Variant:602337.0009	C1862112 113000 Brachydactyly type B1
NM_004560.3(ROR2):c.2246G>A (p.Trp749Ter)	4920	ROR2	Pathogenic	104894122	RCV000007728;	N	MedGen:C1862112,OMIM:113000	9	94486530	94486530	NM_004560.3:c.2246G>A	NP_004551.2:p.Trp749Ter	NC_000009.11:g.94486530C>T	OMIM Allelic Variant:602337.0002	C1862112 113000 Brachydactyly type B1
NM_004560.3(ROR2):c.2244delC (p.Trp749Glyfs)	4920	ROR2	Pathogenic	863223292	RCV000007741;	N	MedGen:C1862112,OMIM:113000	9	94486532	94486532	NM_004560.3:c.2244delC	NP_004551.2:p.Trp749Glyfs	NC_000009.11:g.94486532delG	OMIM Allelic Variant:602337.0014	C1862112 113000 Brachydactyly type B1
NM_004560.3(ROR2):c.1321_1325delCGGCG (p.Arg441Thrfs)	4920	ROR2	Pathogenic	863223290	RCV000007734; RCV000007735;	N	MedGen:C1862112,OMIM:113000; MedGen:C3151609	9	94488884	94488888	NM_004560.3:c.1321_1325delCGGCG	NP_004551.2:p.Arg441Thrfs	NC_000009.11:g.94488884_94488888delCGCCG	OMIM Allelic Variant:602337.0008	C1862112 113000 Brachydactyly type B1; C3151609 Robinow syndrome, autosomal recessive, with aplasia/hypoplasia of phalanges and metacarpals/metatarsals