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syndrome with brachydactyly

Disease Summary
Associated Targets (64)
Tbio

49

Tchem

9

Tclin

4

Tdark

2


Explore Associated Targets
Mondo Description Brachydactyly ('short digits') is a general term that refers to disproportionately short fingers and toes, and forms part of the group of limb malformations characterized by bone dysostosis.
Mondo Term and Equivalent IDs
MONDO:0019066:  syndrome with brachydactyly
Orphanet:69028: 
UMLS:CN205546: 
GWAS Targets (0)
 No GWAS traits found
Disease Hierarchy
Parents
syndromic disease (5200)
Tbio

3563

Tchem

726

Tdark

516

Tclin

395

congenital limb malformation (258)
Tbio

196

Tchem

36

Tclin

18

Tdark

8

brachydactyly (69)
Tbio

54

Tchem

9

Tclin

4

Tdark

2

Children
Coffin-Siris syndrome (12)
Tbio

10

Tchem

2

acrofacial dysostosis (10)
Tbio

7

Tclin

2

Tchem

1

hyperphosphatasia-intellectual disability syndrome (7)
Tbio

7

Weill-Marchesani syndrome (6)
Tbio

6

brachydactyly type A2 (4)
Tbio

2

Tchem

1

Tdark

1

2q37 microdeletion syndrome (4)
Tbio

2

Tclin

1

Tchem

1

brachydactyly type E (4)
Tbio

3

Tclin

1

brachydactyly type A1 (3)
Tbio

2

Tchem

1

brachydactyly type C (3)
Tchem

1

Tbio

1

Tdark

1

Feingold syndrome (3)
Tchem

1

Tbio

1

Tdark

1

Rubinstein-Taybi syndrome (3)
Tchem

2

Tbio

1

brachydactyly-arterial hypertension syndrome (1)
Tclin

1

brachydactyly type D (1)
Tbio

1

hand-foot-genital syndrome (1)
Tbio

1

brachydactyly-elbow wrist dysplasia syndrome (1)
Tbio

1

Keutel syndrome (1)
Tbio

1

temtamy preaxial brachydactyly syndrome (1)
Tbio

1

familial digital arthropathy-brachydactyly (1)
Tchem

1

ulnar/fibula ray defect-brachydactyly syndrome (1)
Tbio

1

brachydactyly type B2 (1)
Tbio

1

cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome (1)
Tbio

1

TELO2-related intellectual disability-neurodevelopmental disorder (1)
Tbio

1

brachydactyly type B (1)
Tbio

1

Cooks syndrome (0)
brachydactyly-long thumb syndrome (0)
Ballard syndrome (0)
brachydactyly-preaxial hallux varus syndrome (0)
brachydactyly type A3 (0)
brachydactyly type A4 (0)
brachydactyly type A6 (0)
Brachymorphism-onychodysplasia-dysphalangism syndrome (0)
brachytelephalangy-dysmorphism-Kallmann syndrome (0)
camptobrachydactyly (0)
Poland syndrome (0)
thumb stiffness-brachydactyly-intellectual disability syndrome (0)
Sugarman brachydactyly (0)
Mononen-Karnes-Senac syndrome (0)
skeletal dysplasia-epilepsy-short stature syndrome (0)
intellectual disability-brachydactyly-Pierre Robin syndrome (0)
Prata-Liberal-Goncalves syndrome (0)
microcephaly-brachydactyly-kyphoscoliosis syndrome (0)
brachydactyly type A5 (0)
brachydactyly type A7 (0)
Target Novelty (Tin-x)
 No novelty measurements found