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dysostosis of genetic origin

Disease Summary
Associated Targets (397)
Tbio

321

Tchem

47

Tclin

19

Tdark

10


Explore Associated Targets
Mondo Description An instance of dysostosis that is caused by a modification of the individual's genome.
Mondo Term and Equivalent IDs
MONDO:0018454:  dysostosis of genetic origin
Orphanet:404568: 
GWAS Targets (0)
 No GWAS traits found
Disease Hierarchy
Parents
hereditary connective tissue disorder (1605)
Tbio

1151

Tchem

254

Tclin

131

Tdark

69

dysostosis (397)
Tbio

321

Tchem

47

Tclin

19

Tdark

10

Children
polydactyly (129)
Tbio

109

Tchem

10

Tclin

6

Tdark

4

craniosynostosis (85)
Tbio

67

Tchem

11

Tclin

7

brachydactyly (69)
Tbio

54

Tchem

9

Tclin

4

Tdark

2

syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy (56)
Tbio

43

Tchem

5

Tclin

4

Tdark

4

Fanconi anemia (25)
Tbio

20

Tchem

3

Tclin

1

Tdark

1

non-syndromic polydactyly, syndactyly and/or hyperphalangy (18)
Tbio

13

Tchem

3

Tclin

1

Tdark

1

patellar dysostosis (14)
Tbio

13

Tchem

1

syndrome with synostosis or other joint formation defect (14)
Tbio

10

Tclin

3

Tdark

1

syndactyly (14)
Tbio

10

Tchem

2

Tclin

1

Tdark

1

Currarino triad (11)
Tbio

7

Tchem

3

Tclin

1

Cornelia de Lange syndrome (11)
Tbio

7

Tchem

3

Tclin

1

thrombocytopenia-absent radius syndrome (10)
Tbio

9

Tchem

1

split hand-foot malformation (9)
Tbio

9

spondylocostal dysostosis (7)
Tbio

6

Tdark

1

Adams-Oliver syndrome (7)
Tbio

5

Tchem

2

frontonasal dysplasia (7)
Tbio

7

heart-hand syndrome (6)
Tbio

6

Treacher-Collins syndrome (5)
Tbio

4

Tchem

1

familial clubfoot with or without associated lower limb anomalies (5)
Tbio

5

cerebrocostomandibular syndrome (4)
Tbio

4

oculoauriculovertebral spectrum with radial defects (3)
Tbio

3

fibular hypoplasia and complex brachydactyly (3)
Tchem

1

Tbio

1

Tdark

1

hypertrichotic osteochondrodysplasia Cantu type (3)
Tbio

2

Tclin

1

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

2

tetraamelia-multiple malformations syndrome (2)
Tchem

1

Tbio

1

joint formation defects (2)
Tchem

1

Tbio

1

hypoplastic tibiae-postaxial polydactyly syndrome (2)
Tchem

1

Tbio

1

non-syndromic limb reduction defect (2)
Tchem

1

Tbio

1

acrodysostosis (2)
Tclin

1

Tbio

1

ADULT syndrome (1)
Tbio

1

IVIC syndrome (1)
Tbio

1

ulnar-mammary syndrome (1)
Tbio

1

cerebrofaciothoracic dysplasia (1)
Tbio

1

EEM 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

Wildervanck syndrome (1)
Tbio

1

limb-mammary syndrome (1)
Tbio

1

Duane-radial ray syndrome (1)
Tbio

1

diaphanospondylodysostosis (1)
Tbio

1

camptodactyly-tall stature-scoliosis-hearing loss syndrome (1)
Tclin

1

COG1-CDG (1)
Tbio

1

endocrine-cerebro-osteodysplasia syndrome (1)
Tchem

1

tall stature-scoliosis-macrodactyly of the great toes syndrome (1)
Tbio

1

mandibulofacial dysostosis with alopecia (1)
Tclin

1

Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome (1)
Tbio

1

craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome (1)
Tbio

1

mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders (1)
Tbio

1

oculomaxillofacial dysostosis (1)
Tbio

1

tibial aplasia-ectrodactyly syndrome (1)
Tbio

1

neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome (1)
Tbio

1

ischio-vertebral syndrome (1)
Tbio

1

absent tibia-polydactyly syndrome (1)
Tbio

1

diffuse idiopathic skeletal hyperostosis (0)
fibular aplasia-ectrodactyly syndrome (0)
congenital pseudoarthrosis of clavicle (0)
external auditory canal atresia-vertical talus-hypertelorism 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)
camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia (0)
lethal faciocardiomelic dysplasia (0)
femur-fibula-ulna complex (0)
familial osteodysplasia, Anderson type (0)
otoonychoperoneal syndrome (0)
spondylocostal dysostosis-anal and genitourinary malformations syndrome (0)
Teebi-Shaltout syndrome (0)
ulna hypoplasia-intellectual disability syndrome (0)
absent radius-anogenital anomalies syndrome (0)
ulnar hypoplasia-split foot syndrome (0)
autosomal recessive amelia (0)
pelvic dysplasia-arthrogryposis of lower limbs syndrome (0)
mandibulofacial dysostosis-macroblepharon-macrostomia syndrome (0)
camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye (0)
camptodactyly syndrome, Guadalajara type 3 (0)
mammary-digital-nail syndrome (0)
radial deficiency-tibial hypoplasia syndrome (0)
congenital pseudoarthrosis of the limbs (0)
shoulder and thorax deformity-congenital heart disease syndrome (0)
progressive non-infectious anterior vertebral fusion (0)
Melhem-Fahl syndrome (0)
limb transversal defect-cardiac anomaly syndrome (0)
oromandibular-limb hypogenesis syndrome (0)
imperforate oropharynx-costo vetebral anomalies syndrome (0)
syngnathia multiple anomalies (0)
spondylocostal dysostosis-hypospadias-intellectual disability syndrome (0)
hereditary thrombocytosis with transverse limb defect (0)
bipartite talus (0)
Duane anomaly-myopathy-scoliosis syndrome (0)
congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome (0)
X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome (0)
omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome (0)
Target Novelty (Tin-x)
 No novelty measurements found