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syndrome with limb reduction defects

Disease Summary
Associated Targets (73)
Tbio

57

Tchem

12

Tclin

2

Tdark

2


Explore Associated Targets
Mondo Term and Equivalent IDs
MONDO:0017432:  syndrome with limb reduction defects
Orphanet:294955: 
UMLS:CN203180: 
GWAS Targets (0)
 No GWAS traits found
Disease Hierarchy
Parents
dysostosis (397)
Tbio

321

Tchem

47

Tclin

19

Tdark

10

congenital limb malformation (258)
Tbio

196

Tchem

36

Tclin

18

Tdark

8

Children
Fanconi anemia (25)
Tbio

20

Tchem

3

Tclin

1

Tdark

1

Cornelia de Lange syndrome (11)
Tbio

7

Tchem

3

Tclin

1

thrombocytopenia-absent radius syndrome (10)
Tbio

9

Tchem

1

Adams-Oliver syndrome (7)
Tbio

5

Tchem

2

Holt-Oram syndrome (4)
Tbio

4

fibular hypoplasia and complex brachydactyly (3)
Tchem

1

Tbio

1

Tdark

1

ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (2)
Tbio

2

tetraamelia-multiple malformations syndrome (2)
Tchem

1

Tbio

1

ADULT syndrome (1)
Tbio

1

IVIC syndrome (1)
Tbio

1

ulnar-mammary syndrome (1)
Tbio

1

split hand-foot malformation 1 with sensorineural hearing loss (1)
Tbio

1

EEM syndrome (1)
Tbio

1

Fuhrmann syndrome (1)
Tbio

1

absence deformity of leg-cataract syndrome (1)
Tbio

1

pelviscapular dysplasia (1)
Tbio

1

rapadilino syndrome (1)
Tbio

1

EEC syndrome (1)
Tbio

1

phocomelia, Schinzel type (1)
Tbio

1

limb-mammary syndrome (1)
Tbio

1

Duane-radial ray syndrome (1)
Tbio

1

split-foot malformation-mesoaxial polydactyly syndrome (1)
Tchem

1

tibial aplasia-ectrodactyly syndrome (1)
Tbio

1

absent tibia-polydactyly syndrome (1)
Tbio

1

hypoglossia-hypodactyly syndrome (0)
femoral-facial syndrome (0)
pelvis-shoulder dysplasia (0)
phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome (0)
postaxial tetramelic oligodactyly (0)
radio-renal syndrome (0)
splenogonadal fusion-limb defects-micrognathia syndrome (0)
Karsch-Neugebauer syndrome (0)
tetramelic monodactyly (0)
humerus trochlea aplasia (0)
Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome (0)
camptodactyly syndrome, Guadalajara type 2 (0)
lethal faciocardiomelic dysplasia (0)
Gollop-Wolfgang complex (0)
intellectual disability-spasticity-ectrodactyly syndrome (0)
fibular aplasia, tibial campomelia, and oligosyndactyly syndrome (0)
ulna hypoplasia-intellectual disability syndrome (0)
absent radius-anogenital anomalies syndrome (0)
aphalangy-syndactyly-microcephaly syndrome (0)
absent tibia-polydactyly-arachnoid cyst syndrome (0)
autosomal recessive amelia (0)
mammary-digital-nail syndrome (0)
shoulder and thorax deformity-congenital heart disease syndrome (0)
limb transversal defect-cardiac anomaly syndrome (0)
hereditary thrombocytosis with transverse limb defect (0)
thalidomide embryopathy (0)
congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome (0)
omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome (0)
Target Novelty (Tin-x)
 No novelty measurements found