MCID: THR009
MIFTS: 51

Thrombocytopenia-Absent Radius Syndrome malady

Genetic diseases, Rare diseases, Bone diseases, Fetal diseases, Blood diseases categories
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Summaries for Thrombocytopenia-Absent Radius Syndrome

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NIH Rare Diseases:42 Tar syndrome is characterized by the absence of a bone called the radius in each forearm, short stature, and thrombocytopenia. the thrombocytopenia often appears first in infancy but becomes less severe or returns to normal over time. infants and young children are particularly vulnerable to episodes of severe bleeding which may occur in the brain and other organs. children who survive this period and do not have damaging bleeding in the brain usually have a normal life expectancy and normal intellectual development. other signs and symptoms vary but may include heart defects, kidney defects, and other skeletal abnormalities. about half of people with tar syndrome also have difficulty digesting cow's milk. tar syndrome is thought be caused by a deletion of genes on chromosome 1q21.1 in concert with another genetic change that has yet to be identified. click here to see a diagram of chromosome 1. last updated: 3/26/2012

MalaCards based summary: Thrombocytopenia-Absent Radius Syndrome, also known as tar syndrome, is related to thrombocytopenia and 1q21.1 microdeletion, and has symptoms including radius anomaly/absence/agenesis/hypoplasia/abnormal radial ray, thrombocytopenia/thrombopenia and clotting/hemostasis disorders. An important gene associated with Thrombocytopenia-Absent Radius Syndrome is RBM8A (RNA binding motif protein 8A), and among its related pathways are Nanog in Mammalian ESC Pluripotency and Activation of cAMP-Dependent PKA. Affiliated tissues include bone, kidney and bone marrow.

Genetics Home Reference:21 Thrombocytopenia-absent radius (TAR) syndrome is characterized by the absence of a bone called the radius in each forearm. Affected individuals also have a shortage (deficiency) of blood cells involved in clotting (platelets). This platelet deficiency (thrombocytopenia) usually appears during infancy and becomes less severe over time; in some cases the platelet levels become normal.

Wikipedia:65 TAR Syndrome (thrombocytopenia with absent radius) is a rare genetic disorder that is characterized by... more...

Descriptions from OMIM:46 274000,612474

GeneReviews summary for tar

Aliases & Classifications for Thrombocytopenia-Absent Radius Syndrome

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Sources:
8Disease Ontology, 9diseasecard, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 10DISEASES, 48Orphanet, 62UMLS, 34MeSH, 57SNOMED-CT, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Thrombocytopenia-Absent Radius Syndrome, Aliases & Descriptions:

Name: Thrombocytopenia-Absent Radius Syndrome 8 9 21 46 10
Tar Syndrome 19 42 21 48
Thrombocytopenia Absent Radius Syndrome 19 42 20
Chromosome 1q21.1 Deletion Syndrome 8 9 46
Radial Aplasia-Thrombocytopenia Syndrome 8 21
Radial Aplasia Thrombocytopenia Syndrome 19 22
Absent Radii and Thrombocytopenia 42 62
Thrombocytopenia Absent Radii 42 21
Radial Aplasia Amegakaryocytic Thrombocytopenia 19
 
Radial Aplasia-Amegakaryocytic Thrombocytopenia 21
Thrombocytopenia with Absent Radii Syndrome 8
Chromosome 1q21.1 Deletion Syndrome, 200-Kb 21
Thrombocytopenia--Absent Radius Syndrome 8
Thrombocytopenia - Absent Radius 48
1q21.1 Microdeletion Syndrome 48
Monosomy 1q21.1 48
Del(1)(q21) 48


Classifications:



Characteristics (Orphanet epidemiological data):

48
tar syndrome:
Inheritance: Autosomal recessive; Age of onset: Neonatal/infancy
1q21.1 microdeletion syndrome:
Inheritance: Autosomal dominant,Sporadic; Age of onset: Neonatal/infancy


External Ids:

Disease Ontology8 DOID:14699
MeSH34 C536940
SNOMED-CT57 85589009
ICD10 via Orphanet26 Q87.2, Q93.5
UMLS via Orphanet63 C0175703

Related Diseases for Thrombocytopenia-Absent Radius Syndrome

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Diseases related to Thrombocytopenia-Absent Radius Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 17)
idRelated DiseaseScoreTop Affiliating Genes
1thrombocytopenia31.9THPO
21q21.1 microdeletion10.5
31q21.1 deletion10.5
4langerhans-cell histiocytosis10.3
5eclampsia10.3
6histiocytosis10.3
7pre-eclampsia10.3
8severe pre-eclampsia10.3
9mullerian agenesis10.3
10horseshoe kidney10.2
11platelet storage pool deficiency10.1
12cleft lip10.1
13roberts syndrome10.1
14esophageal atresia10.1
15esophagitis10.1
16histiocytoma10.1
17annular pancreas10.1

Graphical network of diseases related to Thrombocytopenia-Absent Radius Syndrome:



Diseases related to thrombocytopenia-absent radius syndrome

Symptoms for Thrombocytopenia-Absent Radius Syndrome

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Symptoms by clinical synopsis from OMIM:

274000

Clinical features from OMIM:

274000,612474

Symptoms:

48 (show all 76)
  • radius anomaly/absence/agenesis/hypoplasia/abnormal radial ray
  • thrombocytopenia/thrombopenia
  • clotting/hemostasis disorders
  • insterstitial/subtelomeric microdeletion/deletion
  • high forehead
  • broad forehead
  • low set ears/posteriorly rotated ears
  • humerus anomaly/absence/agenesis/hypoplasia/congenital humerus varus
  • ulnar/cubital anomaly/absence/agenesis/hypoplasia/abnormal ulnar/cubital ray
  • clinodactyly of fifth finger
  • tibia anomaly (excluding short)/absence/agenesis/hypoplasia/tibial ray anomaly
  • patella absent/abnormal (excluding luxation)
  • genu varum
  • intestinal transit disorder
  • patella dislocation
  • hip dislocation/dysplasia/coxa valga/coxa vara/coxa plana
  • micrognathia/retrognathia/micrognathism/retrognathism
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • sensorineural deafness/hearing loss
  • rib number anomalies
  • scoliosis
  • vertebral segmentation anomaly/hemivertebrae
  • phocomelia
  • syndactyly of fingers/interdigital palm
  • broad/bifid thumb
  • clasp thumb/thumb adduction/distal thumb phalangeal bone deviated/large
  • femur anomaly/absence/agenesis/hypoplasia/bifurcation
  • fibula anomaly (excluding short)/absence/agenesis/hypoplasia/fibular ray anomaly
  • capillary hemangioma/nevus/naevus flammeus/port-wine stain
  • tetralogy of fallot/trilogy of fallot
  • cardiac septal defect
  • structural anomalies of the kidney and the urinary tract
  • ectopic/horseshoe/fused kidneys
  • uterine/uterus/fallopian tubes anomalies
  • microcephaly
  • frontal bossing/prominent forehead
  • deepset eyes/enophthalmos
  • epicanthic folds
  • long/large/bulbous nose
  • broad nose/nasal bridge
  • long philtrum
  • high vaulted/narrow palate
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • short stature/dwarfism/nanism
  • anophthalmos/anophthalmia/microphthalmos/microphthalmia
  • coloboma of iris
  • cataract/lens opacification
  • retinoschisis/retinal/chorioretinal coloboma
  • hypermetropia
  • strabismus/squint
  • ankyloglossia/lingual synechiae
  • inguinal/inguinoscrotal/crural hernia
  • short hand/brachydactyly
  • upper limb polydactyly/hexadactyly
  • talipes-varus/metatarsal varus
  • small foot
  • polydactyly of toes
  • syndactyly of toes
  • broad/bifid big toe
  • hypoplastic aorta/coarctation/stenosis/anomaly/aortic arch interruption
  • patent ductus arteriosus
  • megaureter/hydronephrosis/pyeloureteral junction syndrome
  • vesicorenal/vesicoureteral reflux
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • hydrocephaly
  • corpus callosum/septum pellucidum total/partial agenesis
  • hypotonia
  • seizures/epilepsy/absences/spasms/status epilepticus
  • sleep and vigilance disorders
  • hyperactivity/attention deficit
  • autism/autistic disoders
  • humour troubles/anxiety/depression/apathy/euphoria/irritability
  • psychosis/schizophrenia/maniac disorder
  • hyperextensible joints/articular hyperlaxity
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • intrauterine growth retardation

HPO human phenotypes related to Thrombocytopenia-Absent Radius Syndrome:

(show all 131)
id Description Frequency HPO Source Accession
1 bilateral radial aplasia obligate (100%) HP:0004977
2 aplasia/hypoplasia of the ulna hallmark (90%) HP:0006495
3 thrombocytopenia hallmark (90%) HP:0001873
4 abnormality of coagulation hallmark (90%) HP:0001928
5 aplasia/hypoplasia of the radius hallmark (90%) HP:0006501
6 eosinophilia common (75%) HP:0001880
7 coxa valga common (75%) HP:0002673
8 hip dislocation common (75%) HP:0002827
9 genu varum common (75%) HP:0002970
10 clinodactyly of the 5th finger common (75%) HP:0004209
11 patellar aplasia common (75%) HP:0006443
12 cow milk allergy common (75%) HP:0100327
13 thrombocytopenia 66% HP:0001873
14 adducted thumb typical (50%) HP:0001181
15 aplasia/hypoplasia of the humerus typical (50%) HP:0006507
16 broad thumb typical (50%) HP:0011304
17 abnormality of the palate typical (50%) HP:0000174
18 microcephaly typical (50%) HP:0000252
19 epicanthus typical (50%) HP:0000286
20 long philtrum typical (50%) HP:0000343
21 deeply set eye typical (50%) HP:0000490
22 frontal bossing typical (50%) HP:0002007
23 short stature typical (50%) HP:0004322
24 abnormal nasal morphology typical (50%) HP:0005105
25 cognitive impairment typical (50%) HP:0100543
26 broad forehead typical (50%) HP:0000337
27 high forehead typical (50%) HP:0000348
28 low-set, posteriorly rotated ears typical (50%) HP:0000368
29 abnormality of the intestine typical (50%) HP:0002242
30 genu varum typical (50%) HP:0002970
31 abnormality of the tibia typical (50%) HP:0002992
32 abnormality of the ulna typical (50%) HP:0002997
33 patellar dislocation typical (50%) HP:0002999
34 abnormality of the humerus typical (50%) HP:0003063
35 abnormality of the hip bone typical (50%) HP:0003272
36 clinodactyly of the 5th finger typical (50%) HP:0004209
37 patellar aplasia typical (50%) HP:0006443
38 anemia frequent (33%) HP:0001903
39 abnormality of the cardiac septa 15% HP:0001671
40 malar flattening occasional (7.5%) HP:0000272
41 strabismus occasional (7.5%) HP:0000486
42 ptosis occasional (7.5%) HP:0000508
43 hooked clavicles occasional (7.5%) HP:0000895
44 global developmental delay occasional (7.5%) HP:0001263
45 cerebellar hypoplasia occasional (7.5%) HP:0001321
46 hepatosplenomegaly occasional (7.5%) HP:0001433
47 carpal bone hypoplasia occasional (7.5%) HP:0001498
48 tetralogy of fallot occasional (7.5%) HP:0001636
49 talipes equinovarus occasional (7.5%) HP:0001762
50 delayed cns myelination occasional (7.5%) HP:0002188
51 cavum septum pellucidum occasional (7.5%) HP:0002389
52 patellar dislocation occasional (7.5%) HP:0002999
53 abnormality of the shoulder occasional (7.5%) HP:0003043
54 finger syndactyly occasional (7.5%) HP:0006101
55 nevus flammeus of the forehead occasional (7.5%) HP:0007413
56 edema of the dorsum of hands occasional (7.5%) HP:0007514
57 phocomelia occasional (7.5%) HP:0009829
58 edema of the dorsum of feet occasional (7.5%) HP:0012098
59 tibial torsion occasional (7.5%) HP:0100694
60 cryptorchidism occasional (7.5%) HP:0000028
61 vesicoureteral reflux occasional (7.5%) HP:0000076
62 hydrocephalus occasional (7.5%) HP:0000238
63 sensorineural hearing impairment occasional (7.5%) HP:0000407
64 strabismus occasional (7.5%) HP:0000486
65 cataract occasional (7.5%) HP:0000518
66 hypermetropia occasional (7.5%) HP:0000540
67 chorioretinal coloboma occasional (7.5%) HP:0000567
68 iris coloboma occasional (7.5%) HP:0000612
69 autism occasional (7.5%) HP:0000717
70 brachydactyly syndrome occasional (7.5%) HP:0001156
71 hand polydactyly occasional (7.5%) HP:0001161
72 seizures occasional (7.5%) HP:0001250
73 muscular hypotonia occasional (7.5%) HP:0001252
74 joint hypermobility occasional (7.5%) HP:0001382
75 intrauterine growth retardation occasional (7.5%) HP:0001511
76 patent ductus arteriosus occasional (7.5%) HP:0001643
77 abnormality of the cardiac septa occasional (7.5%) HP:0001671
78 abnormality of the aorta occasional (7.5%) HP:0001679
79 toe syndactyly occasional (7.5%) HP:0001770
80 short foot occasional (7.5%) HP:0001773
81 preaxial foot polydactyly occasional (7.5%) HP:0001841
82 talipes occasional (7.5%) HP:0001883
83 sleep disturbance occasional (7.5%) HP:0002360
84 scoliosis occasional (7.5%) HP:0002650
85 clinodactyly of the 5th finger occasional (7.5%) HP:0004209
86 hernia of the abdominal wall occasional (7.5%) HP:0004299
87 attention deficit hyperactivity disorder occasional (7.5%) HP:0007018
88 aplasia/hypoplasia of the corpus callosum occasional (7.5%) HP:0007370
89 aplasia/hypoplasia affecting the eye occasional (7.5%) HP:0008056
90 abnormality of thumb phalanx occasional (7.5%) HP:0009602
91 ankyloglossia occasional (7.5%) HP:0010296
92 abnormality of female internal genitalia occasional (7.5%) HP:0000008
93 cleft palate occasional (7.5%) HP:0000175
94 micrognathia occasional (7.5%) HP:0000347
95 sensorineural hearing impairment occasional (7.5%) HP:0000407
96 abnormality of the ribs occasional (7.5%) HP:0000772
97 abnormality of the skin occasional (7.5%) HP:0000951
98 adducted thumb occasional (7.5%) HP:0001181
99 tetralogy of fallot occasional (7.5%) HP:0001636
100 abnormality of the cardiac septa occasional (7.5%) HP:0001671
101 scoliosis occasional (7.5%) HP:0002650
102 abnormality of the femur occasional (7.5%) HP:0002823
103 abnormality of the fibula occasional (7.5%) HP:0002991
104 vertebral segmentation defect occasional (7.5%) HP:0003422
105 finger syndactyly occasional (7.5%) HP:0006101
106 abnormality of thumb phalanx occasional (7.5%) HP:0009602
107 phocomelia occasional (7.5%) HP:0009829
108 abnormal localization of kidney occasional (7.5%) HP:0100542
109 short stature 7% HP:0004322
110 aplasia of the uterus rare (5%) HP:0000151
111 cervical ribs rare (5%) HP:0000891
112 coarctation of aorta rare (5%) HP:0001680
113 fused cervical vertebrae rare (5%) HP:0002949
114 fibular aplasia rare (5%) HP:0002990
115 axial malrotation of the kidney rare (5%) HP:0004717
116 autosomal recessive inheritance HP:0000007
117 horseshoe kidney HP:0000085
118 brachycephaly HP:0000248
119 micrognathia HP:0000347
120 anteverted nares HP:0000463
121 seborrheic dermatitis HP:0001051
122 seizures HP:0001250
123 motor delay HP:0001270
124 ventricular septal defect HP:0001629
125 defect in the atrial septum HP:0001631
126 pancreatic cysts HP:0001737
127 meckel diverticulum HP:0002245
128 spina bifida HP:0002414
129 hypogammaglobulinemia HP:0004313
130 shoulder muscle hypoplasia HP:0008952
131 carpal synostosis HP:0009702

Drugs & Therapeutics for Thrombocytopenia-Absent Radius Syndrome

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Drug clinical trials:

Search ClinicalTrials for Thrombocytopenia-Absent Radius Syndrome

Search NIH Clinical Center for Thrombocytopenia-Absent Radius Syndrome

Genetic Tests for Thrombocytopenia-Absent Radius Syndrome

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Genetic tests related to Thrombocytopenia-Absent Radius Syndrome:

id Genetic test Affiliating Genes
1 Thrombocytopenia Absent Radius Syndrome20 RBM8A
2 Radial Aplasia-Thrombocytopenia Syndrome22

Anatomical Context for Thrombocytopenia-Absent Radius Syndrome

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MalaCards organs/tissues related to Thrombocytopenia-Absent Radius Syndrome:

32
Bone, Kidney, Bone marrow, Brain, Heart, Testes, Eye, Uterus

Animal Models for Thrombocytopenia-Absent Radius Syndrome or affiliated genes

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Publications for Thrombocytopenia-Absent Radius Syndrome

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Articles related to Thrombocytopenia-Absent Radius Syndrome:

(show all 28)
idTitleAuthorsYear
1
First-trimester diagnosis of thrombocytopenia-absent radius syndrome using virtual reality. (24556603)
2014
2
Total knee arthroplasty in a patient with thrombocytopenia-absent radius syndrome. (25275986)
2014
3
Management of children with thrombocytopenia-absent radius syndrome: an institutional experience. (21771154)
2012
4
Thrombocytopenia-absent-radius syndrome in a child showing a larger 1q21.1 deletion than the one in his healthy mother, and a significant downregulation of the commonly deleted genes. (22201559)
2012
5
Exacerbation of thrombocytopenia in a pregnant woman with thrombocytopenia-absent radius syndrome. (21530967)
2011
6
Thrombocytopenia-absent radius syndrome. (22102274)
2011
7
Thrombocytopenia absent radius syndrome. (21885665)
2011
8
Langerhans cell histiocytosis in a pediatric patient with thrombocytopenia-absent radius syndrome and 1q21.1 deletion: case report and proposal of a rapid molecular diagnosis of 1q21.1 deletion. (21428712)
2011
9
Mitral valve repair in a patient with thrombocytopenia-absent radius syndrome: case report. (20961838)
2010
10
Maternal thrombocytopenia-absent radius syndrome complicated by severe pre-eclampsia. (19253167)
2009
11
Thrombocytopenia absent radius syndrome: presence of brachiocarpalis muscle and its importance. (19773129)
2009
12
Management of a parturient with thrombocytopenia-absent-radius syndrome undergoing urgent caesarean section. (18162204)
2008
13
Impact of array comparative genomic hybridization-derived information on genetic counseling demonstrated by prenatal diagnosis of the TAR (thrombocytopenia-absent-radius) syndrome-associated microdeletion 1q21.1. (17847015)
2007
14
Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome. (17236129)
2007
15
Thumb function and appearance in thrombocytopenia: absent radius syndrome. (17275588)
2007
16
Mayer-Rokitansky-KA1ster-Hauser syndrome associated with thrombocytopenia-absent radius syndrome. (15705390)
2005
17
Mullerian agenesis and thrombocytopenia absent radius syndrome: a case report and review of syndromes associated with Mullerian agenesis. (15995562)
2005
18
Increased nuchal translucency thickness in thrombocytopenia-absent-radius syndrome. (16184503)
2005
19
Brief psychosis in thrombocytopenia-absent radius syndrome: a case report. (16168045)
2005
20
Thrombocytopenia-absent radius syndrome: a clinical genetic study. (12471199)
2002
21
Radiology case of the month. Congenital limb and bleeding disorder. Thrombocytopenia absent radius syndrome (TAR). (11125506)
2000
22
Prenatal diagnosis of thrombocytopenia-absent radius syndrome. (8739592)
1996
23
Thrombocytopenia absent radius syndrome and knee deformity. (7670996)
1995
24
Thrombocytopenia Absent Radius Syndrome (20301781)
1993
25
Prenatal diagnosis of thrombocytopenia absent radius syndrome by ultrasound and cordocentesis. (2179938)
1990
26
Thrombocytopenia absent radius syndrome associated with renal insufficiency. (2407410)
1990
27
Prenatal diagnosis of thrombocytopenia absent radius syndrome using ultrasound and fetoscopy. (6739436)
1984
28
Thrombocytopenia, absent radius syndrome: report of two siblings and a review of the hematologic and genetic features. (7067207)
1982

Variations for Thrombocytopenia-Absent Radius Syndrome

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Clinvar genetic disease variations for Thrombocytopenia-Absent Radius Syndrome:

6
id Gene Name Type Significance SNP ID Assembly Location
1RBM8ANM_005105.4(RBM8A): c.-21G> Asingle nucleotide variantPathogenicrs139428292GRCh37Chr 1, 145507646: 145507646
2RBM8ARBM8A, IVS1, G-Csingle nucleotide variantPathogenic
3RBM8ANM_005105.4(RBM8A): c.207_208insAGCG (p.Val70Serfs)insertionPathogenicrs397515388GRCh37Chr 1, 145508476: 145508477
4RBM8ANM_005105.4(RBM8A): c.487C> T (p.Arg163Ter)single nucleotide variantPathogenicrs397515389GRCh37Chr 1, 145509173: 145509173
5NC_000001.10deletionPathogenic
6RBM8ANM_005105.4(RBM8A): c.67+32G> Csingle nucleotide variantLikely pathogenicrs201779890GRCh37Chr 1, 145507765: 145507765

Expression for genes affiliated with Thrombocytopenia-Absent Radius Syndrome

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Expression patterns in normal tissues for genes affiliated with Thrombocytopenia-Absent Radius Syndrome

Search GEO for disease gene expression data for Thrombocytopenia-Absent Radius Syndrome.

Pathways for genes affiliated with Thrombocytopenia-Absent Radius Syndrome

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Pathways related to Thrombocytopenia-Absent Radius Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.1THPO, GDF5
2
Show member pathways
9.1GDF5, THPO
3
Show member pathways
9.1GDF5, THPO
4
Show member pathways
9.1THPO, GDF5
5
Show member pathways
9.1THPO, GDF5
6
Show member pathways
9.1THPO, GDF5

Compounds for genes affiliated with Thrombocytopenia-Absent Radius Syndrome

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GO Terms for genes affiliated with Thrombocytopenia-Absent Radius Syndrome

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Molecular functions related to Thrombocytopenia-Absent Radius Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cytokine activityGO:0051259.1THPO, GDF5
2growth factor activityGO:0080838.8THPO, GDF5

Products for genes affiliated with Thrombocytopenia-Absent Radius Syndrome

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Sources for Thrombocytopenia-Absent Radius Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet