SRTD3
MCID: SHR072
MIFTS: 59

Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly (SRTD3)

Categories: Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly

MalaCards integrated aliases for Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly:

Name: Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly 57 12 72 29 6
Saldino-Noonan Syndrome 57 12 20 72 15 70
Asphyxiating Thoracic Dystrophy 3 57 12 72 13 15
Verma-Naumoff Syndrome 57 12 72
Srps2b 57 12 72
Srtd3 57 12 72
Srps1 57 12 72
Srps3 57 12 72
Atd3 57 12 72
Polydactyly with Neonatal Chondrodystrophy, Type Iii 57 12
Polydactyly with Neonatal Chondrodystrophy Type Iii 20 72
Polydactyly with Neonatal Chondrodystrophy, Type I 57 12
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type 58 70
Short Rib-Polydactyly Syndrome, Type Iib 57 12
Short Rib-Polydactyly Syndrome Type Iii 20 72
Short Rib-Polydactyly Syndrome, Type I 57 12
Short Rib-Polydactyly Syndrome Type 3 20 58
Short Rib-Polydactyly Syndrome Type 1 20 58
Majewski Syndrome 72 70
Dysplasia, Short-Rib Thoracic, Type 3, with or Without Polydactyly 39
Short Rib-Polydactyly Syndrome, Saldino-Noonan Type 58
Short Rib-Polydactyly Syndrome Saldino-Noonan Type 20
Short Rib Polydactyly Syndrome Verma Naumoff Type 20
Polydactyly with Neonatal Chondrodystrophy Type 1 20
Polydactyly with Neonatal Chondrodystrophy Type I 72
Short Rib-Polydactyly Syndrome, Type Iib; Srps2b 57
Short Rib-Polydactyly Syndrome, Type Iii; Srps3 57
Short Rib-Polydactyly Syndrome, Type I; Srps1 57
Short Rib-Polydactyly Syndrome, Type Iii 57
Asphyxiating Thoracic Dystrophy 3; Atd3 57
Short Rib-Polydactyly Syndrome Type Iib 72
Short-Rib Polydactyly Syndrome Type Iii 6
Type I Short Rib Polydactyly Syndrome 12
Jeune Asphyxiating Thoracic Dystrophy 72
Short Rib-Polydactyly Syndrome Type I 72
Short-Rib Polydactyly Syndrome Type I 6
Verma Naumoff Syndrome 20
Jeune Syndrome 3 72
Srps Type Iib 72
Srps Type Iii 72
Srps Type 3 20
Srps Type 1 20
Jatd 72

Characteristics:

Orphanet epidemiological data:

58
short rib-polydactyly syndrome, verma-naumoff type
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (United Arab Emirates); Age of onset: Antenatal,Neonatal; Age of death: infantile,stillbirth;
short rib-polydactyly syndrome, saldino-noonan type
Inheritance: Autosomal recessive;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive
digenic recessive

Miscellaneous:
variable severity, even within families
thoracic abnormalities tend to improve with age
very low occurrence of retinal, hepatic, pancreatic, and renal anomalies
digenic form caused by heterozygous mutations in both nek1 and dyn2ch1


HPO:

31
short-rib thoracic dysplasia 3 with or without polydactyly:
Inheritance autosomal recessive inheritance digenic inheritance


Classifications:

Orphanet: 58  
Rare respiratory diseases
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly

OMIM® : 57 Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013). There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, 218330). For a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 (208500). (613091) (Updated 05-Apr-2021)

MalaCards based summary : Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly, also known as saldino-noonan syndrome, is related to orofaciodigital syndrome iv and short-rib thoracic dysplasia 5 with or without polydactyly. An important gene associated with Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly is DYNC2H1 (Dynein Cytoplasmic 2 Heavy Chain 1), and among its related pathways/superpathways are Organelle biogenesis and maintenance and Signaling by Hedgehog. Affiliated tissues include pancreas, eye and tongue, and related phenotypes are respiratory insufficiency and abnormality of the metaphysis

Disease Ontology : 12 A syndrome characterized by congenital heart defects, failure to thrive, short stature, cognitive dysfunction, pectus excavatum, coagulation defects and craniofacial defects and that has material basis in the mutation in the Ras/mitogen activated protein kinase.

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 93271 Definition Short rib- polydactyly syndrome, Verma-Naumoff type is a short rib-polydactyly syndrome characterized by short limb dwarfism, short ribs with thoracic dysplasia, postaxial polydactyly and protuberant abdomen. Associated multiple malformations include cardiovascular defects, renal agenesis /hypoplasia, abnormal cloacal development (ambiguous genitalia, anal atresia) and cerebellar hypoplasia. Short rib-polydactyly syndrome, Verma-Naumoff type follows an autosomal recessive mode of transmission. The disease is usually fatal in the perinatal period.

UniProtKB/Swiss-Prot : 72 Short-rib thoracic dysplasia 3 with or without polydactyly: A form of short-rib thoracic dysplasia, a group of autosomal recessive ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. Polydactyly is variably present. Non-skeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of the disease are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life. Disease spectrum encompasses Ellis-van Creveld syndrome, asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino syndrome, and short rib-polydactyly syndrome.

Related Diseases for Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly

Diseases in the Short-Rib Thoracic Dysplasia 1 with or Without Polydactyly family:

Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly Short-Rib Thoracic Dysplasia 9 with or Without Polydactyly
Short-Rib Thoracic Dysplasia 2 with or Without Polydactyly Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly
Short-Rib Thoracic Dysplasia 4 with or Without Polydactyly Short-Rib Thoracic Dysplasia 7 with or Without Polydactyly
Short-Rib Thoracic Dysplasia 5 with or Without Polydactyly Short-Rib Thoracic Dysplasia 8 with or Without Polydactyly
Short-Rib Thoracic Dysplasia 10 with or Without Polydactyly Short-Rib Thoracic Dysplasia 11 with or Without Polydactyly
Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly Short-Rib Thoracic Dysplasia 16 with or Without Polydactyly
Short-Rib Thoracic Dysplasia 17 with or Without Polydactyly Short-Rib Thoracic Dysplasia 19 with or Without Polydactyly

Diseases related to Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 114)
# Related Disease Score Top Affiliating Genes
1 orofaciodigital syndrome iv 32.7 DYNC2I2 DYNC2I1
2 short-rib thoracic dysplasia 5 with or without polydactyly 31.8 WDR35 WDR19 IFT122
3 short-rib thoracic dysplasia 2 with or without polydactyly 31.8 WDR19 TTC21B IFT80 DYNC2H1
4 short rib-polydactyly syndrome 31.0 WDR35 IFT52 DYNC2H1
5 short-rib thoracic dysplasia 6 with or without polydactyly 30.9 WDR35 WDR19 TTC21B TMEM256-PLSCR3 TMEM256 NEK1
6 short-rib thoracic dysplasia 8 with or without polydactyly 30.8 DYNLT2B DYNC2LI1 DYNC2I2 DYNC2I1 DYNC2H1
7 short-rib thoracic dysplasia 11 with or without polydactyly 30.7 DYNLT2B DYNC2LI1 DYNC2I2 DYNC2I1 DYNC2H1
8 short-rib thoracic dysplasia 9 with or without polydactyly 30.7 WDR35 WDR19 TTC21B IFT122
9 short-rib thoracic dysplasia 7 with or without polydactyly 30.7 WDR35 WDR19 TTC21B DYNLT2B DYNC2I1
10 short-rib thoracic dysplasia 4 with or without polydactyly 30.6 WDR35 WDR19 TTC21B DYNLT2B DYNC2I1
11 odontochondrodysplasia 30.6 WDR35 WDR19 IFT80 EVC2 EVC DYNC2H1
12 retinal degeneration 30.5 TTC21B IFT52 DYNC2H1 BBS10
13 bardet-biedl syndrome 30.1 WDR35 WDR19 TTC21B IFT80 IFT52 IFT122
14 ciliopathy 30.1 TTC21B KIAA0586 IFT52 DYNC2LI1
15 retinitis pigmentosa 30.0 WDR35 WDR19 TTC21B KIAA0586 IFT80 IFT52
16 cleft lip/palate 30.0 WDR35 DYNLT2B DYNC2LI1 DYNC2I2 DYNC2I1 DYNC2H1
17 polydactyly 30.0 WDR35 WDR19 TTC21B NEK1 KIAA0586 IFT80
18 fundus dystrophy 29.9 WDR35 WDR19 TTC21B NEK1 KIAA0586 IFT80
19 asphyxiating thoracic dystrophy 29.7 WDR35 WDR19 TTC21B NEK1 KIAA0586 IFT80
20 short-rib thoracic dysplasia 1 with or without polydactyly 29.6 WDR35 WDR19 TTC21B TMEM256-PLSCR3 TMEM256 NEK1
21 short-rib thoracic dysplasia 12 29.5 WDR35 WDR19 TTC21B NEK1 KIAA0586 IFT80
22 cranioectodermal dysplasia 29.5 WDR35 WDR19 TTC21B NEK1 KIAA0586 IFT80
23 joubert syndrome 1 29.2 WDR35 WDR19 TTC21B NEK1 KIAA0586 IFT80
24 ellis-van creveld syndrome 29.0 WDR35 WDR19 TTC21B NEK1 KIAA0586 IFT80
25 lenz-majewski hyperostotic dwarfism 11.6
26 zerres rietschel majewski syndrome 11.2
27 joubert syndrome with jeune asphyxiating thoracic dystrophy 11.1
28 bosma arhinia microphthalmia syndrome 11.0
29 noonan syndrome 1 10.4
30 pseudo-turner syndrome 10.4
31 short-rib thoracic dysplasia 17 with or without polydactyly 10.4
32 heart, malformation of 10.4
33 short-rib thoracic dysplasia 10 with or without polydactyly 10.4
34 heart disease 10.4
35 lung disease 10.4
36 bardet-biedl syndrome 7 10.4 DYNLT2B DYNC2I2 DYNC2I1
37 geographic tongue 10.4 DYNLT2B DYNC2H1
38 acrofacial dysostosis 10.3 WDR35 IFT80 EVC2 EVC
39 cranioectodermal dysplasia 1 10.3 WDR35 WDR19 IFT122
40 bone development disease 10.3 IFT80 EVC2 DYNC2H1
41 mckusick-kaufman syndrome 10.3 EVC2 EVC BBS10
42 anodontia 10.3 EVC2 EVC
43 joubert syndrome 4 10.3 TTC21B KIAA0586 IFT80
44 nephronophthisis 1 10.2
45 orofaciodigital syndrome i 10.2
46 joubert syndrome 21 10.2
47 bardet-biedl syndrome 4 10.2
48 bardet-biedl syndrome 8 10.2
49 short-rib thoracic dysplasia 13 with or without polydactyly 10.2
50 short-rib thoracic dysplasia 14 with polydactyly 10.2

Graphical network of the top 20 diseases related to Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly:



Diseases related to Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly

Symptoms & Phenotypes for Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly

Human phenotypes related to Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly:

58 31 (show top 50) (show all 73)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 respiratory insufficiency 58 31 hallmark (90%) Very frequent (99-80%) HP:0002093
2 abnormality of the metaphysis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000944
3 short thorax 58 31 hallmark (90%) Very frequent (99-80%) HP:0010306
4 narrow chest 58 31 hallmark (90%) Very frequent (99-80%) HP:0000774
5 micromelia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002983
6 short foot 58 31 hallmark (90%) Very frequent (99-80%) HP:0001773
7 disproportionate short-limb short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0008873
8 short palm 58 31 hallmark (90%) Very frequent (99-80%) HP:0004279
9 abnormal pelvis bone ossification 58 31 hallmark (90%) Very frequent (99-80%) HP:0009106
10 abdominal distention 58 31 hallmark (90%) Very frequent (99-80%) HP:0003270
11 short ribs 58 31 hallmark (90%) Very frequent (99-80%) HP:0000773
12 lethal skeletal dysplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0005716
13 macrocephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000256
14 frontal bossing 58 31 frequent (33%) Frequent (79-30%) HP:0002007
15 depressed nasal bridge 58 31 frequent (33%) Frequent (79-30%) HP:0005280
16 hydrops fetalis 58 31 frequent (33%) Frequent (79-30%) HP:0001789
17 cryptorchidism 58 31 frequent (33%) Frequent (79-30%) HP:0000028
18 micrognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000347
19 epicanthus 58 31 frequent (33%) Frequent (79-30%) HP:0000286
20 cleft upper lip 58 31 occasional (7.5%) Frequent (79-30%) HP:0000204
21 hydronephrosis 58 31 frequent (33%) Frequent (79-30%) HP:0000126
22 long philtrum 58 31 frequent (33%) Frequent (79-30%) HP:0000343
23 renal hypoplasia 58 31 frequent (33%) Frequent (79-30%) HP:0000089
24 hypoplasia of penis 58 31 frequent (33%) Frequent (79-30%) HP:0008736
25 ambiguous genitalia 58 31 occasional (7.5%) Frequent (79-30%) HP:0000062
26 wide nose 58 31 frequent (33%) Frequent (79-30%) HP:0000445
27 postaxial hand polydactyly 58 31 frequent (33%) Frequent (79-30%) HP:0001162
28 congenital hepatic fibrosis 58 31 frequent (33%) Frequent (79-30%) HP:0002612
29 uterus didelphys 58 31 frequent (33%) Frequent (79-30%) HP:0003762
30 absent or minimally ossified vertebral bodies 58 31 frequent (33%) Frequent (79-30%) HP:0004599
31 urethrovaginal fistula 58 31 frequent (33%) Frequent (79-30%) HP:0008716
32 abnormality of cardiovascular system morphology 31 frequent (33%) HP:0030680
33 agenesis of corpus callosum 58 31 occasional (7.5%) Occasional (29-5%) HP:0001274
34 cataract 58 31 occasional (7.5%) Occasional (29-5%) HP:0000518
35 anal atresia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002023
36 dandy-walker malformation 58 31 occasional (7.5%) Occasional (29-5%) HP:0001305
37 preaxial hand polydactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001177
38 cerebellar hypoplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001321
39 omphalocele 58 31 occasional (7.5%) Occasional (29-5%) HP:0001539
40 facial cleft 58 31 occasional (7.5%) Occasional (29-5%) HP:0002006
41 esophageal atresia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002032
42 ectopic anus 58 31 occasional (7.5%) Occasional (29-5%) HP:0004397
43 pulmonary hypoplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002089
44 renal cyst 58 31 occasional (7.5%) Occasional (29-5%) HP:0000107
45 bifid tongue 58 31 occasional (7.5%) Occasional (29-5%) HP:0010297
46 bifid epiglottis 58 31 occasional (7.5%) Occasional (29-5%) HP:0010564
47 cleft palate 31 occasional (7.5%) HP:0000175
48 talipes equinovarus 31 occasional (7.5%) HP:0001762
49 micropenis 31 occasional (7.5%) HP:0000054
50 intestinal malrotation 31 occasional (7.5%) HP:0002566

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skeletal Spine:
scoliosis

Skeletal Limbs:
metaphyseal spurs
widened metaphyses
bowed femurs
shortened long bones
shortened femurs
more
Genitourinary Kidneys:
dysplastic kidneys
polycystic kidneys
enlarged kidneys

Neurologic Central Nervous System:
corpus callosum agenesis (rare)
cerebellar cyst (rare)

Head And Neck Mouth:
cleft lip/palate (in some patients)
lingual hamartoma (rare)
bifid tongue (rare)

Abdomen Gastrointestinal:
intestinal malrotation (rare)
anal atresia (in some patients)

Growth Height:
short stature (in childhood)

Respiratory:
respiratory problems due to small thorax

Abdomen Liver:
biliary dysplasia (rare)

Laboratory Abnormalities:
defect in retrograde intraflagellar transport in cilia

Skeletal Hands:
brachydactyly
cone-shaped epiphyses
polysyndactyly
postaxial polydactyly (in some patients)

Skeletal Pelvis:
acetabular spurs
small ilia

Chest External Features:
small thorax

Chest Ribs Sternum Clavicles And Scapulae:
handlebar clavicles
shortened ribs
horizontally oriented ribs

Genitourinary External Genitalia Male:
micropenis (in some patients)
ambiguous genitalia (in some patients)
cloacal developmental abnormalities (rare)

Skeletal Feet:
club feet (rare)
postaxial polydactyly (in some patients)
preaxial polydactyly (in some patients)
polysyndactyly (rare)

Cardiovascular Heart:
transposition of the great vessels (rare)

Respiratory Lung:
abnormal lung lobulation (rare)

Abdomen Pancreas:
cystic pancreas (rare)

Clinical features from OMIM®:

613091 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.25 BBS10 CEP120 DYNC2H1 DYNC2I2 DYNC2LI1 EVC
2 growth/size/body region MP:0005378 10.2 BBS10 CEP120 DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1
3 cardiovascular system MP:0005385 10.16 CEP120 DYNC2H1 DYNC2I1 DYNC2LI1 IFT122 IFT52
4 embryo MP:0005380 10.15 BBS10 CEP120 DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1
5 limbs/digits/tail MP:0005371 10.07 DYNC2H1 DYNC2I2 DYNC2LI1 EVC EVC2 IFT122
6 craniofacial MP:0005382 10.06 DYNC2H1 EVC EVC2 IFT122 IFT80 KIAA0586
7 mortality/aging MP:0010768 10.06 BBS10 CEP120 DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1
8 nervous system MP:0003631 9.7 BBS10 CEP120 DYNC2H1 DYNC2I2 DYNC2LI1 IFT122
9 skeleton MP:0005390 9.36 CEP120 DYNC2H1 EVC EVC2 IFT80 KIAA0586

Drugs & Therapeutics for Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly

Search Clinical Trials , NIH Clinical Center for Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly

Genetic Tests for Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly

Genetic tests related to Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly:

# Genetic test Affiliating Genes
1 Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly 29 DYNC2H1

Anatomical Context for Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly

MalaCards organs/tissues related to Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly:

40
Pancreas, Eye, Tongue, Bone, Kidney, Uterus, Heart

Publications for Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly

Articles related to Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly:

(show top 50) (show all 54)
# Title Authors PMID Year
1
Mutations in DYNC2H1, the cytoplasmic dynein 2, heavy chain 1 motor protein gene, cause short-rib polydactyly type I, Saldino-Noonan type. 61 6 57
27925158 2017
2
Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy. 6 57
24183451 2013
3
Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement. 57 6
23456818 2013
4
NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases. 57 6
22499340 2012
5
Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesis. 6 57
21473986 2011
6
NEK1 mutations cause short-rib polydactyly syndrome type majewski. 6 57
21211617 2011
7
DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III. 6 57
19442771 2009
8
Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short-rib polydactyly syndrome. 6 57
19361615 2009
9
Short rib-polydactyly syndrome, type 3 with chondrocytic inclusions: report of a case and review of the literature. 61 57
7468648 1980
10
Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies. 6
29068549 2018
11
Intrafamilial phenotypic variability in a Polish family with Sensenbrenner syndrome and biallelic WDR35 mutations. 6
28332779 2017
12
Mutations in IFT-A satellite core component genes IFT43 and IFT121 produce short rib polydactyly syndrome with distinctive campomelia. 6
28400947 2017
13
A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 6
26938784 2016
14
The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery. 6
27158779 2016
15
Respiratory motile cilia dysfunction in a patient with cranioectodermal dysplasia. 6
25914204 2015
16
Specific variants in WDR35 cause a distinctive form of Ellis-van Creveld syndrome by disrupting the recruitment of the EvC complex and SMO into the cilium. 6
25908617 2015
17
WDR34 mutations that cause short-rib polydactyly syndrome type III/severe asphyxiating thoracic dysplasia reveal a role for the NF-κB pathway in cilia. 6
24183449 2013
18
Short-rib polydactyly and Jeune syndromes are caused by mutations in WDR60. 6
23910462 2013
19
Asphyxiating thoracic dysplasia: clinical and molecular review of 39 families. 6
23339108 2013
20
Novel WDR35 mutations in patients with cranioectodermal dysplasia (Sensenbrenner syndrome). 6
22486404 2013
21
Ciliary disorder of the skeleton. 57
22791528 2012
22
Clinical variability of asphyxiating thoracic dystrophy (Jeune) syndrome: Evaluation and classification of 13 patients. 6
19610081 2009
23
An unclassifiable short rib-polydactyly syndrome with acromesomelic hypomineralization and campomelia in siblings. 6
17935248 2007
24
Mutations in the EVC1 gene are not a common finding in the Ellis-van Creveld and short rib-polydactyly type III syndromes. 57
15368503 2004
25
Diagnostic dilemmas in the short rib-polydactyly syndrome group. 57
12210298 2002
26
Exclusion of the Ellis-van Creveld region on chromosome 4p16 in some families with asphyxiating thoracic dystrophy and short-rib polydactyly syndromes. 57
10951528 2000
27
Jeune asphyxiating thoracic dystrophy and short-rib polydactyly type III (Verma-Naumoff) are variants of the same disorder. 57
10710229 2000
28
Short rib-polydactyly syndrome: more evidence of a continuous spectrum. 57
10517252 1999
29
Short-rib polydactyly syndrome (SRPS) type III diagnosed during routine prenatal ultrasonographic screening. A case report. 57
8532628 1995
30
Prenatal diagnosis of recurrence of short rib-polydactyly syndrome. 57
7726223 1995
31
Short rib-polydactyly syndrome and pericentric inversion of chromosome 4. 57
7909650 1994
32
Lethal short rib-polydactyly syndromes: further evidence for their overlapping in a continuous spectrum. 57
8301649 1993
33
Three conditions in neonatal asphyxiating thoracic dysplasia (Jeune) and short rib-polydactyly syndrome spectrum: a clinicopathologic study. 57
3130854 1987
34
Short rib-polydactyly syndrome: a single or heterogeneous entity? A re-evaluation prompted by four new cases. 57
3981580 1985
35
Non-Majewski short rib-polydactyly syndrome. 57
7468650 1980
36
Prenatal diagnosis of recurrence of Saldino-Noonan dwarfism. 57
894422 1977
37
Short rib-polydactyly syndrome type 3. 57
834893 1977
38
Saldino-Noonan short rib-polydactyly dwarfism syndrome;. 57
1153245 1975
39
Short rib-polydactyly (SRP) syndromes, types Majewski and Saldino-Noonan. 57
4816160 1974
40
[Lethal neonatal forms of chondroectodermal dysplasia. Apropos of 5 cases]. 57
4734687 1973
41
Severe thoracic dystrophy with striking micromelia, abnormal osseous development, including the spine, and multiple visceral anomalies. 57
5058513 1972
42
Identification of novel compound heterozygous mutations of the DYNC2H1 gene in a fetus with short-rib thoracic dysplasia 3 with or without polydactyly. 61
32494556 2020
43
Prenatal diagnosis of short-rib polydactyly syndrome type III or short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) associated with compound heterozygous mutations in DYNC2H1 in a fetus. 61
29458881 2018
44
Analysis of musculoskeletal dysmorphic abnormalities of 20 fetuses. 61
28760128 2017
45
Short rib polydactyly syndrome type I (Saldino-Noonan syndrome). 61
15876604 2005
46
A 34-week-old male fetus with short rib polydactyly syndrome (SRPS) type I (Saldino-Noonan) with pancreatic cysts. 61
12921311 2003
47
[Saldino-Noonan syndrome (short rib polydactyly syndrome type I)]. 61
9048021 1996
48
Short rib-polydactyly syndrome type I (Saldino-Noonan syndrome). 61
1802845 1991
49
Comparative histopathology of the growth cartilage in short-rib polydactyly syndromes type I and type III and in chondroectodermal dysplasia. 61
2464965 1988
50
Fetoscopy in prenatal diagnosis of the Majewski and the Saldino-Noonan types of the Short Rib-Polydactyly syndromes. 61
6467657 1984

Variations for Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly

ClinVar genetic disease variations for Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly:

6 (show top 50) (show all 843)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DYNC2I1 NM_018051.5(DYNC2I1):c.1891C>T (p.Gln631Ter) SNV Pathogenic 88644 rs587777064 GRCh37: 7:158711530-158711530
GRCh38: 7:158918839-158918839
2 DYNC2I2 NM_052844.3(DYNC2I2):c.1022C>T (p.Ala341Val) SNV Pathogenic 97037 rs587777091 GRCh37: 9:131397160-131397160
GRCh38: 9:128634881-128634881
3 DYNC2I2 NM_052844.3(DYNC2I2):c.1061C>T (p.Thr354Met) SNV Pathogenic 97038 rs587777092 GRCh37: 9:131397121-131397121
GRCh38: 9:128634842-128634842
4 DYNC2I2 NM_052844.3(DYNC2I2):c.1339C>T (p.Arg447Trp) SNV Pathogenic 97039 rs587777093 GRCh37: 9:131396538-131396538
GRCh38: 9:128634259-128634259
5 DYNC2I2 NM_052844.3(DYNC2I2):c.1340G>A (p.Arg447Gln) SNV Pathogenic 97040 rs587777094 GRCh37: 9:131396537-131396537
GRCh38: 9:128634258-128634258
6 DYNC2I2 NM_052844.3(DYNC2I2):c.982-2A>C SNV Pathogenic 97041 rs587777095 GRCh37: 9:131397202-131397202
GRCh38: 9:128634923-128634923
7 DYNC2I2 NM_052844.3(WDR34):c.1539_1540CA[1] (p.Thr514fs) Microsatellite Pathogenic 97043 rs431905519 GRCh37: 9:131396092-131396093
GRCh38: 9:128633813-128633814
8 DYNC2I2 NM_052844.3(DYNC2I2):c.472C>T (p.Gln158Ter) SNV Pathogenic 97044 rs587777097 GRCh37: 9:131399270-131399270
GRCh38: 9:128636991-128636991
9 DYNC2I2 NM_052844.3(DYNC2I2):c.1307A>G (p.Lys436Arg) SNV Pathogenic 97045 rs587777098 GRCh37: 9:131396570-131396570
GRCh38: 9:128634291-128634291
10 DYNC2I2 NM_052844.3(DYNC2I2):c.26del (p.Pro9fs) Deletion Pathogenic 576613 rs763975565 GRCh37: 9:131418980-131418980
GRCh38: 9:128656701-128656701
11 DYNC2I1 NM_018051.5(DYNC2I1):c.1321C>T (p.Arg441Ter) SNV Pathogenic 577342 rs766663693 GRCh37: 7:158695250-158695250
GRCh38: 7:158902559-158902559
12 DYNC2I2 NM_052844.3(DYNC2I2):c.1312_1313del (p.Leu438fs) Deletion Pathogenic 665979 rs753802842 GRCh37: 9:131396564-131396565
GRCh38: 9:128634285-128634286
13 DYNC2H1 NM_001080463.1(DYNC2H1):c.626_654dup (p.Glu219Phefs) Duplication Pathogenic 6502 rs1565310938 GRCh37: 11:102987302-102987303
GRCh38: 11:103116573-103116574
14 DYNC2H1 NM_001377.3(DYNC2H1):c.3719T>C (p.Ile1240Thr) SNV Pathogenic 6504 rs137853028 GRCh37: 11:103026205-103026205
GRCh38: 11:103155476-103155476
15 DYNC2H1 NM_001377.3(DYNC2H1):c.10042G>T (p.Gly3348Ter) SNV Pathogenic 6505 rs137853029 GRCh37: 11:103116103-103116103
GRCh38: 11:103245374-103245374
16 DYNC2H1 NM_001377.3(DYNC2H1):c.624_625delinsAA (p.Phe209Ile) Indel Pathogenic 6509 rs431905498 GRCh37: 11:102987301-102987302
GRCh38: 11:103116572-103116573
17 DYNC2H1 NM_001377.3(DYNC2H1):c.5151+1G>T SNV Pathogenic 6510 rs431905499 GRCh37: 11:103041020-103041020
GRCh38: 11:103170291-103170291
18 DYNC2H1 NM_001377.3(DYNC2H1):c.4610A>G (p.Gln1537Arg) SNV Pathogenic 6511 rs137853033 GRCh37: 11:103033875-103033875
GRCh38: 11:103163146-103163146
19 DYNC2H1 NM_001377.3(DYNC2H1):c.7382G>T (p.Gly2461Val) SNV Pathogenic 6512 rs137853034 GRCh37: 11:103060490-103060490
GRCh38: 11:103189761-103189761
20 DYNC2H1 NM_001377.3(DYNC2H1):c.10109del (p.Leu3370fs) Deletion Pathogenic 6514 rs431905500 GRCh37: 11:103124076-103124076
GRCh38: 11:103253347-103253347
21 DYNC2H1 NM_001377.3(DYNC2H1):c.7486C>T (p.Pro2496Ser) SNV Pathogenic 40069 rs397514636 GRCh37: 11:103062294-103062294
GRCh38: 11:103191565-103191565
22 DYNLT2B NM_152773.5(DYNLT2B):c.317+4A>T SNV Pathogenic 266107 rs886039815 GRCh37: 3:196033810-196033810
GRCh38: 3:196306939-196306939
23 DYNC2H1 NM_001377.3(DYNC2H1):c.10573C>T (p.Arg3525Ter) SNV Pathogenic 446570 rs181011657 GRCh37: 11:103128448-103128448
GRCh38: 11:103257719-103257719
24 DYNC2H1 NM_001377.3(DYNC2H1):c.6116G>A (p.Arg2039His) SNV Pathogenic 446568 rs1555057503 GRCh37: 11:103048526-103048526
GRCh38: 11:103177797-103177797
25 DYNC2H1 NM_001377.3(DYNC2H1):c.2341T>G (p.Tyr781Asp) SNV Pathogenic 446566 rs1555043520 GRCh37: 11:103006359-103006359
GRCh38: 11:103135630-103135630
26 DYNC2H1 NM_001377.3(DYNC2H1):c.6545G>A (p.Cys2182Tyr) SNV Pathogenic 446602 rs780855765 GRCh37: 11:103055692-103055692
GRCh38: 11:103184963-103184963
27 DYNC2H1 NM_001377.3(DYNC2H1):c.7525T>C (p.Tyr2509His) SNV Pathogenic 446599 rs1386343205 GRCh37: 11:103062333-103062333
GRCh38: 11:103191604-103191604
28 DYNC2H1 NM_001377.3(DYNC2H1):c.7774_7782del (p.Leu2592_Pro2594del) Deletion Pathogenic 446538 rs1555066796 GRCh37: 11:103068724-103068732
GRCh38: 11:103197995-103198003
29 DYNC2H1 NM_001377.3(DYNC2H1):c.11713_11716del (p.Arg3905fs) Deletion Pathogenic 446583 rs1453448143 GRCh37: 11:103187334-103187337
GRCh38: 11:103316605-103316608
30 DYNC2H1 NM_001377.3(DYNC2H1):c.6562T>C (p.Phe2188Leu) SNV Pathogenic 446618 rs1555060411 GRCh37: 11:103055709-103055709
GRCh38: 11:103184980-103184980
31 DYNC2H1 NM_001377.3(DYNC2H1):c.1949T>A (p.Ile650Asn) SNV Pathogenic 446541 rs1555041449 GRCh37: 11:102999730-102999730
GRCh38: 11:103129001-103129001
32 DYNC2H1 NM_001377.3(DYNC2H1):c.8534del (p.Asn2845fs) Deletion Pathogenic 40071 rs431905507 GRCh37: 11:103080677-103080677
GRCh38: 11:103209948-103209948
33 DYNC2H1 NM_001377.3(DYNC2H1):c.7442G>A (p.Arg2481Gln) SNV Pathogenic 802716 rs781326398 GRCh37: 11:103062250-103062250
GRCh38: 11:103191521-103191521
34 DYNC2H1 NM_001377.3(DYNC2H1):c.7409C>G (p.Ala2470Gly) SNV Pathogenic 446600 rs1555062849 GRCh37: 11:103060517-103060517
GRCh38: 11:103189788-103189788
35 DYNC2I1 NM_018051.5(DYNC2I1):c.2284C>T (p.Arg762Ter) SNV Pathogenic 446629 rs1456300819 GRCh37: 7:158718904-158718904
GRCh38: 7:158926213-158926213
36 DYNC2H1 NM_001377.3(DYNC2H1):c.1759C>T (p.Arg587Cys) SNV Pathogenic 6506 rs137853030 GRCh37: 11:102995926-102995926
GRCh38: 11:103125197-103125197
37 DYNC2H1 NM_001377.3(DYNC2H1):c.4267C>T (p.Arg1423Cys) SNV Pathogenic 446611 rs745870321 GRCh37: 11:103029645-103029645
GRCh38: 11:103158916-103158916
38 DYNC2H1 NM_001377.3(DYNC2H1):c.9353+1G>A SNV Pathogenic 446543 rs776407305 GRCh37: 11:103093816-103093816
GRCh38: 11:103223087-103223087
39 DYNC2H1 NM_001377.3(DYNC2H1):c.6614G>A (p.Arg2205His) SNV Pathogenic 6507 rs137853031 GRCh37: 11:103055761-103055761
GRCh38: 11:103185032-103185032
40 DYNC2H1 NM_001377.3(DYNC2H1):c.8512C>T (p.Arg2838Ter) SNV Pathogenic 6508 rs137853032 GRCh37: 11:103080662-103080662
GRCh38: 11:103209933-103209933
41 DYNC2H1 NM_001377.3(DYNC2H1):c.7438-2A>G SNV Pathogenic 446535 rs1555063811 GRCh37: 11:103062244-103062244
GRCh38: 11:103191515-103191515
42 DYNC2I2 NM_052844.3(DYNC2I2):c.1397A>C (p.Gln466Pro) SNV Pathogenic 446624 rs1554770620 GRCh37: 9:131396237-131396237
GRCh38: 9:128633958-128633958
43 DYNC2H1 NM_001377.3(DYNC2H1):c.7984C>T (p.Arg2662Trp) SNV Pathogenic 446601 rs964711006 GRCh37: 11:103070101-103070101
GRCh38: 11:103199372-103199372
44 DYNC2H1 NM_001377.3(DYNC2H1):c.8729T>C (p.Leu2910Pro) SNV Pathogenic 446587 rs1555071484 GRCh37: 11:103086484-103086484
GRCh38: 11:103215755-103215755
45 DYNC2H1 NM_001377.3(DYNC2H1):c.988C>T (p.Arg330Cys) SNV Pathogenic 40070 rs397514637 GRCh37: 11:102988581-102988581
GRCh38: 11:103117852-103117852
46 DYNC2H1 NM_001377.3(DYNC2H1):c.7112C>T (p.Thr2371Ile) SNV Pathogenic 446606 rs1322884865 GRCh37: 11:103058287-103058287
GRCh38: 11:103187558-103187558
47 DYNC2H1 NM_001377.3(DYNC2H1):c.8070C>G (p.Phe2690Leu) SNV Pathogenic 446603 rs1214801816 GRCh37: 11:103070187-103070187
GRCh38: 11:103199458-103199458
48 DYNC2H1 NM_001377.3(DYNC2H1):c.11829C>G (p.Tyr3943Ter) SNV Pathogenic 446615 rs369658526 GRCh37: 11:103191861-103191861
GRCh38: 11:103321132-103321132
49 DYNC2H1 NM_001377.3(DYNC2H1):c.193A>C (p.Thr65Pro) SNV Pathogenic 446598 rs555339053 GRCh37: 11:102980496-102980496
GRCh38: 11:103109767-103109767
50 DYNC2H1 NM_001377.3(DYNC2H1):c.9710-2A>G SNV Pathogenic 446540 rs1555077194 GRCh37: 11:103107157-103107157
GRCh38: 11:103236428-103236428

UniProtKB/Swiss-Prot genetic disease variations for Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly:

72 (show all 34)
# Symbol AA change Variation ID SNP ID
1 DYNC2H1 p.Phe209Ile VAR_063242 rs771511132
2 DYNC2H1 p.Arg587Cys VAR_063243 rs137853030
3 DYNC2H1 p.Ile1240Thr VAR_063244 rs137853028
4 DYNC2H1 p.Gln1537Arg VAR_063245 rs137853033
5 DYNC2H1 p.Thr1987Ala VAR_063246 rs137853035
6 DYNC2H1 p.Met1991Leu VAR_063247 rs137853025
7 DYNC2H1 p.Arg2205His VAR_063248 rs137853031
8 DYNC2H1 p.Gly2461Val VAR_063249 rs137853034
9 DYNC2H1 p.Asp3015Gly VAR_063250 rs137853027
10 DYNC2H1 p.Leu3762Val VAR_063251
11 DYNC2H1 p.Arg330Cys VAR_069591 rs397514637
12 DYNC2H1 p.Arg338Gly VAR_069592 rs132207704
13 DYNC2H1 p.Arg430Cys VAR_069593 rs374073337
14 DYNC2H1 p.Lys495Arg VAR_069594
15 DYNC2H1 p.Leu871Pro VAR_069595
16 DYNC2H1 p.Met1379Val VAR_069597
17 DYNC2H1 p.Arg1423Cys VAR_069598 rs745870321
18 DYNC2H1 p.Gly1442Asp VAR_069599 rs763571787
19 DYNC2H1 p.Met1991Lys VAR_069600 rs120278486
20 DYNC2H1 p.Met2227Val VAR_069601 rs750249486
21 DYNC2H1 p.Ala2304Thr VAR_069602 rs747348765
22 DYNC2H1 p.Asn2362Ser VAR_069603
23 DYNC2H1 p.Arg2481Gln VAR_069604 rs781326398
24 DYNC2H1 p.Pro2496Ser VAR_069605 rs397514636
25 DYNC2H1 p.Arg2532Trp VAR_069606 rs135032964
26 DYNC2H1 p.Val2555Met VAR_069607 rs746195428
27 DYNC2H1 p.Tyr2573Cys VAR_069608 rs127882552
28 DYNC2H1 p.Ile2640Thr VAR_069609 rs126566991
29 DYNC2H1 p.Arg2662Gln VAR_069610 rs397514635
30 DYNC2H1 p.Ile2819Met VAR_069611 rs106050143
31 DYNC2H1 p.Pro3381Leu VAR_069612 rs368631447
32 DYNC2H1 p.Arg3806Cys VAR_069613 rs754753584
33 DYNC2H1 p.Trp3847Gly VAR_069614 rs752554582
34 DYNC2H1 p.Leu4232Arg VAR_069616

Expression for Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly

Search GEO for disease gene expression data for Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly.

Pathways for Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly

Pathways related to Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.46 WDR35 WDR19 TTC21B IFT80 IFT52 IFT122
2
Show member pathways
12.3 WDR35 WDR19 TTC21B IFT52 IFT122 EVC2
3 10.98 WDR35 WDR19 TTC21B IFT80 IFT52 IFT122

GO Terms for Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly

Cellular components related to Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly according to GeneCards Suite gene sharing:

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.42 WDR35 WDR19 TTC21B NEK1 KIAA0586 IFT80
2 cytoskeleton GO:0005856 10.1 WDR35 WDR19 TTC21B NEK1 KIAA0586 IFT80
3 centrosome GO:0005813 10.07 WDR35 NEK1 KIAA0586 IFT80 IFT52 DYNLT2B
4 microtubule organizing center GO:0005815 10 WDR35 NEK1 KIAA0586 DYNC2LI1 DYNC2I2 DYNC2I1
5 cell projection GO:0042995 10 WDR35 WDR19 TTC21B KIAA0586 IFT80 IFT52
6 ciliary basal body GO:0036064 9.92 WDR35 KIAA0586 IFT80 IFT52 IFT122 EVC
7 axoneme GO:0005930 9.88 WDR35 DYNLT2B DYNC2LI1 DYNC2I2 DYNC2H1
8 motile cilium GO:0031514 9.86 WDR19 IFT52 DYNC2LI1 DYNC2H1
9 centriole GO:0005814 9.84 KIAA0586 IFT52 DYNC2I2 CEP120
10 cytoplasmic dynein complex GO:0005868 9.8 DYNLT2B DYNC2LI1 DYNC2I2 DYNC2I1 DYNC2H1
11 intraciliary transport particle A GO:0030991 9.73 WDR35 WDR19 TTC21B IFT122
12 photoreceptor connecting cilium GO:0032391 9.72 WDR19 IFT52 IFT122
13 ciliary base GO:0097546 9.7 IFT52 DYNLT2B DYNC2I1
14 ciliary tip GO:0097542 9.65 WDR35 WDR19 TTC21B IFT80 IFT52 IFT122
15 pericentriolar material GO:0000242 9.59 NEK1 DYNC2I1
16 intraciliary transport particle B GO:0030992 9.58 IFT80 IFT52
17 plasma membrane protein complex GO:0098797 9.57 EVC2 EVC
18 ciliary plasm GO:0097014 9.51 DYNC2I2 DYNC2I1
19 interphase microtubule organizing center GO:0031021 9.49 DYNLT2B DYNC2I1
20 cilium GO:0005929 9.47 WDR35 WDR19 TTC21B IFT80 IFT52 IFT122

Biological processes related to Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 cell projection organization GO:0030030 9.91 WDR35 WDR19 NEK1 KIAA0586 IFT52 IFT122
2 smoothened signaling pathway GO:0007224 9.87 WDR19 TTC21B KIAA0586 IFT80 IFT52 EVC2
3 intraciliary retrograde transport GO:0035721 9.81 WDR35 WDR19 TTC21B IFT122 DYNLT2B DYNC2LI1
4 non-motile cilium assembly GO:1905515 9.8 IFT80 IFT52 IFT122 DYNC2H1 BBS10
5 intraciliary transport GO:0042073 9.77 WDR35 IFT52 IFT122 DYNC2I2 DYNC2I1
6 protein localization to cilium GO:0061512 9.73 WDR35 TTC21B IFT122 DYNC2H1
7 microtubule-based movement GO:0007018 9.67 DYNC2I2 DYNC2I1 DYNC2H1
8 determination of left/right symmetry GO:0007368 9.65 IFT52 DYNC2LI1 DYNC2H1
9 intraciliary transport involved in cilium assembly GO:0035735 9.65 WDR35 WDR19 TTC21B IFT80 IFT52 IFT122
10 regulation of intraciliary retrograde transport GO:1905799 9.46 TTC21B DYNLT2B
11 cilium assembly GO:0060271 9.4 WDR35 WDR19 NEK1 KIAA0586 IFT80 IFT52

Molecular functions related to Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 dynein intermediate chain binding GO:0045505 9.16 DYNLT2B DYNC2H1
2 dynein light chain binding GO:0045503 8.96 DYNC2I2 DYNC2I1
3 dynein heavy chain binding GO:0045504 8.8 DYNC2LI1 DYNC2I2 DYNC2I1

Sources for Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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