MCID: JBR020
MIFTS: 54

Joubert Syndrome 1 malady

Genetic diseases, Rare diseases, Neuronal diseases, Fetal diseases, Nephrological diseases categories

Aliases & Classifications for Joubert Syndrome 1

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Joubert Syndrome 1, Aliases & Descriptions:

Name: Joubert Syndrome 1 45 10 41 22
Joubert Syndrome 9 63 41 21 42 47
Familial Aplasia of the Vermis 21 22 60
Cerebelloparenchymal Disorder Iv 41 47
Cerebellooculorenal Syndrome 1 41 21
Joubert-Boltshauser Syndrome 41 47
Classic Joubert Syndrome 41 47
Joubert Syndrome Type a 41 47
Pure Joubert Syndrome 41 47
Cpd Iv 41 47
 
Jbts 9 21
Cerebelloparenchymal Disorder 4 41
Cerebello-Oculo-Renal Syndrome 21
Agenesis of Cerebellar Vermis 21
Joubert-Bolthauser Syndrome 21
Cerebellar Vermis Agenesis 41
Cors1 41
Jbts1 41
Cors 21
Cpd4 41


Classifications:



Characteristics (Orphanet epidemiological data):

47
joubert syndrome:
Inheritance: Autosomal recessive; Age of onset: Antenatal,Neonatal


External Ids:

OMIM45 213300
Disease Ontology9 DOID:0050777
Orphanet47 475
ICD10 via Orphanet26 Q04.3

Summaries for Joubert Syndrome 1

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OMIM:45 Joubert syndrome is a clinically and genetically heterogeneous group of disorders characterized by hypoplasia of the... (213300) more...

MalaCards based summary: Joubert Syndrome 1, also known as joubert syndrome, is related to joubert syndrome 14 and joubert syndrome 21, and has symptoms including oculomotor apraxia, muscular hypotonia and apnea. An important gene associated with Joubert Syndrome 1 is INPP5E (inositol polyphosphate-5-phosphatase, 72 kDa). Affiliated tissues include brain, eye and cerebellum, and related mouse phenotypes are liver/biliary system and digestive/alimentary.

Disease Ontology:9 An autosomal recessive disease that is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones resulting from dysfunction of ciliary proteins (ciliopathy).

Genetics Home Reference:21 Joubert syndrome is a disorder that affects many parts of the body. The signs and symptoms of this condition vary among affected individuals, even among members of the same family.

NIH Rare Diseases:41 Joubert syndrome is a disorder that affects many parts of the body.  the signs and symptoms vary among affected individuals, even among members of the same family.  the hallmark feature of joubert syndrome is a brain abnormality called the molar tooth sign, which can be seen on brain imaging studies such as magnetic resonance imaging (mri).  most infants with joubert syndrome have weak muscle tone (hypotonia), episodes of unusually fast or slow breathing (hyperpnoea) and abnormal eye movements.  individuals with joubert syndrome can have delayed development and mild to severe intellectual disabilities.   distinctive facial features are also characteristic of joubert syndrome.  mutations in one of 10 known genes have been found in about half of all cases with joubert syndrome and related disorders.  in the remaining cases, the genetic cause is unknown.  this condition typically has an autosomal recessive pattern of inheritance.  rare cases of joubert syndrome are inherited in an x-linked recessive pattern. last updated: 8/19/2011

NINDS:42 Joubert syndrome is a rare brain malformation characterized by the absence or underdevelopment of the

Related Diseases for Joubert Syndrome 1

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Diseases in the Joubert Syndrome-3 family:

Joubert Syndrome 4 Joubert Syndrome 14
Joubert Syndrome 22 Joubert Syndrome 8
Joubert Syndrome 9 Joubert Syndrome 17
Joubert Syndrome 15 Joubert Syndrome 21
Joubert Syndrome 6 joubert syndrome 1
Joubert Syndrome 18 Joubert Syndrome 16
Joubert Syndrome 2 Joubert Syndrome 5
Joubert Syndrome 13 Joubert Syndrome 7
Joubert Syndrome 20 Joubert Syndrome 10
Joubert Syndrome and Related Disorders Ahi1-Related Joubert Syndrome
Nphp1-Related Joubert Syndrome Inpp5e-Related Joubert Syndrome
Cep290-Related Joubert Syndrome Tmem67-Related Joubert Syndrome
Rpgrip1l-Related Joubert Syndrome Arl13b-Related Joubert Syndrome
Cc2d2a-Related Joubert Syndrome Ofd1-Related Joubert Syndrome
Tmem216-Related Joubert Syndrome Kif7-Related Joubert Syndrome
Tctn1-Related Joubert Syndrome Tctn2-Related Joubert Syndrome
Tmem237-Related Joubert Syndrome Ttc21b-Related Joubert Syndrome
Cep41-Related Joubert Syndrome Tmem138-Related Joubert Syndrome
C5orf42-Related Joubert Syndrome Tctn3-Related Joubert Syndrome
Tmem231-Related Joubert Syndrome

Diseases related to Joubert Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 250)
idRelated DiseaseScoreTop Affiliating Genes
1joubert syndrome 1431.2TMEM237
2joubert syndrome 2131.2CSPP1
3coach syndrome30.8RPGRIP1L, TMEM67
4apraxia30.7TMEM231, INPP5E
5asphyxiating thoracic dystrophy30.6ARL13B
6nephronophthisis29.5TMEM67, B9D1, AHI1, MKS1, INPP5E, RPGRIP1L
7polydactyly28.9ARL13B, B9D1, AHI1, MKS1, TMEM67, TMEM231
8cor pulmonale11.2
9cor triatriatum11.2
10cor triatriatum sinister10.8
11cor triatriatum dexter10.8
12acute cor pulmonale10.8
13joubert syndrome and related disorders10.7
14pulmonary hypertension10.6
15cor biloculare10.5
16joubert syndrome 210.5
17joubert syndrome with oculorenal anomalies10.5
18joubert syndrome 610.5
19atrial fibrillation10.5
20pulmonary embolism10.5
21joubert syndrome 1010.5
22isolated cerebellar vermis agenesis10.4
23isolated partial cerebellar vermis agenesis10.4
24isolated total cerebellar vermis agenesis10.4
25orofaciodigital syndrome vi10.4
26joubert syndrome 1510.4
27joubert syndrome 1610.4
28joubert syndrome with ocular anomalies10.4
29joubert syndrome 410.4
30joubert syndrome 810.4
31joubert syndrome 910.4
32joubert syndrome 1710.4
33joubert syndrome 1810.4
34joubert syndrome 510.4
35joubert syndrome 1310.4
36joubert syndrome 710.4
37joubert syndrome 2010.4
38joubert syndrome with renal anomalies10.4
39cystic fibrosis10.4
40male infertility10.4
41infertility10.4
42tetralogy of fallot10.3
43bronchitis10.3
44obstructive lung disease10.3
45nephronophthisis 1410.3
46coloboma10.3
47retinitis10.3
48cc2d2a-related joubert syndrome10.3
49ataxia10.3
50joubert syndrome with jeune asphyxiating thoracic dystrophy10.3

Graphical network of the top 20 diseases related to Joubert Syndrome 1:



Diseases related to joubert syndrome 1

Symptoms for Joubert Syndrome 1

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Symptoms by clinical synopsis from OMIM:

213300

Clinical features from OMIM:

213300

Symptoms:

 47 (show all 35)
  • oculomotor apraxia/dyspraxia
  • respiratory rhythm disorder
  • apnea/sleep apnea
  • cerebellum/cerebellar vermis anomaly/agenesis/hypoplasia
  • ataxia/incoordination/trouble of the equilibrium
  • hypotonia
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • autosomal recessive inheritance
  • narrow forehead
  • long face
  • nystagmus
  • abnormal gait
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • coloboma of iris
  • strabismus/squint
  • high arched eyebrows
  • ptosis
  • high nasal bridge
  • anteverted nares/nostrils
  • cleft lip and palate
  • low set ears/posteriorly rotated ears
  • anomalies of spine, vertebrae and pelvis
  • scoliosis
  • upper limb polydactyly/hexadactyly
  • polydactyly of toes
  • dolichocolon/megacolon/megadolichocolon/hirschsprung's disease
  • dextrocardia/abnormal heart position/cardiac heterotaxia/situs inversus
  • congenital cardiac anomaly/malformation/cardiopathy
  • hypothalamic-hypophyseal axis anomalies/hypothalamus/pituitary anomalies
  • encephalocele/exencephaly
  • hydrocephaly
  • agyria/micro/pachy/macrogyria/lissencephaly/gyration/neuronal migration defect
  • corpus callosum/septum pellucidum total/partial agenesis
  • tremor
  • seizures/epilepsy/absences/spasms/status epilepticus

HPO human phenotypes related to Joubert Syndrome 1:

(show all 74)
id Description Frequency HPO Source Accession
1 oculomotor apraxia hallmark (90%) HP:0000657
2 muscular hypotonia hallmark (90%) HP:0001252
3 apnea hallmark (90%) HP:0002104
4 incoordination hallmark (90%) HP:0002311
5 aplasia/hypoplasia of the cerebellum hallmark (90%) HP:0007360
6 cognitive impairment hallmark (90%) HP:0100543
7 long face typical (50%) HP:0000276
8 narrow forehead typical (50%) HP:0000341
9 nystagmus typical (50%) HP:0000639
10 gait disturbance typical (50%) HP:0001288
11 oral cleft occasional (7.5%) HP:0000202
12 hydrocephalus occasional (7.5%) HP:0000238
13 low-set, posteriorly rotated ears occasional (7.5%) HP:0000368
14 prominent nasal bridge occasional (7.5%) HP:0000426
15 anteverted nares occasional (7.5%) HP:0000463
16 strabismus occasional (7.5%) HP:0000486
17 ptosis occasional (7.5%) HP:0000508
18 iris coloboma occasional (7.5%) HP:0000612
19 abnormality of the hypothalamus-pituitary axis occasional (7.5%) HP:0000864
20 hand polydactyly occasional (7.5%) HP:0001161
21 seizures occasional (7.5%) HP:0001250
22 tremor occasional (7.5%) HP:0001337
23 situs inversus totalis occasional (7.5%) HP:0001696
24 foot polydactyly occasional (7.5%) HP:0001829
25 encephalocele occasional (7.5%) HP:0002084
26 aganglionic megacolon occasional (7.5%) HP:0002251
27 abnormality of neuronal migration occasional (7.5%) HP:0002269
28 highly arched eyebrow occasional (7.5%) HP:0002553
29 scoliosis occasional (7.5%) HP:0002650
30 aplasia/hypoplasia of the corpus callosum occasional (7.5%) HP:0007370
31 autosomal recessive inheritance HP:0000007
32 renal cyst HP:0000107
33 macroglossia HP:0000158
34 macrocephaly HP:0000256
35 epicanthus HP:0000286
36 low-set ears HP:0000369
37 anteverted nares HP:0000463
38 ptosis HP:0000508
39 retinal dystrophy HP:0000556
40 chorioretinal coloboma HP:0000567
41 abnormality of saccadic eye movements HP:0000570
42 optic nerve coloboma HP:0000588
43 oculomotor apraxia HP:0000657
44 aggressive behavior HP:0000718
45 self-mutilation HP:0000742
46 hyperactivity HP:0000752
47 postaxial hand polydactyly HP:0001162
48 intellectual disability HP:0001249
49 ataxia HP:0001251
50 muscular hypotonia HP:0001252
51 global developmental delay HP:0001263
52 cerebellar vermis hypoplasia HP:0001320
53 hepatic fibrosis HP:0001395
54 heterogeneous HP:0001425
55 abnormality of the foot HP:0001760
56 dysgenesis of the cerebellar vermis HP:0002195
57 agenesis of cerebellar vermis HP:0002335
58 hypoplasia of the brainstem HP:0002365
59 molar tooth sign on mri HP:0002419
60 brainstem dysplasia HP:0002508
61 highly arched eyebrow HP:0002553
62 neonatal breathing dysregulation HP:0002790
63 central apnea HP:0002871
64 episodic tachypnea HP:0002876
65 phenotypic variability HP:0003812
66 occipital myelomeningocele HP:0007271
67 impaired smooth pursuit HP:0007772
68 retinal dysplasia HP:0007973
69 protruding tongue HP:0010808
70 hemifacial spasm HP:0010828
71 prominent forehead HP:0011220
72 elongated superior cerebellar peduncle HP:0011933
73 enlarged fossa interpeduncularis HP:0100951
74 triangular-shaped open mouth HP:0200096

Drugs & Therapeutics for Joubert Syndrome 1

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Drug clinical trials:

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Search NIH Clinical Center for Joubert Syndrome 1

Genetic Tests for Joubert Syndrome 1

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Genetic tests related to Joubert Syndrome 1:

id Genetic test Affiliating Genes
1 Familial Aplasia of the Vermis22
2 Joubert Syndrome 122

Anatomical Context for Joubert Syndrome 1

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MalaCards organs/tissues related to Joubert Syndrome 1:

31
Brain, Eye, Cerebellum, Hypothalamus, Pituitary, Heart, Tongue

Animal Models for Joubert Syndrome 1 or affiliated genes

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Publications for Joubert Syndrome 1

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Variations for Joubert Syndrome 1

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UniProtKB/Swiss-Prot genetic disease variations for Joubert Syndrome 1:

62
id Symbol AA change Variation ID SNP ID
1INPP5Ep.Arg378CysVAR_063012
2INPP5Ep.Arg435GlnVAR_063013
3INPP5Ep.Arg512TrpVAR_063014
4INPP5Ep.Arg515TrpVAR_063015
5INPP5Ep.Arg563HisVAR_063016
6INPP5Ep.Lys580GluVAR_063017

Clinvar genetic disease variations for Joubert Syndrome 1:

6 (show all 44)
id Gene Variation Type Significance SNP ID Assembly Location
1CSPP1NM_024790.6(CSPP1): c.2320C> T (p.Arg774Ter)single nucleotide variantPathogenicGRCh37Chr 8, 68070775: 68070775
2CSPP1NM_024790.6(CSPP1): c.2244_2245delAA (p.Glu750Glyfs)deletionPathogenicGRCh37Chr 8, 68070699: 68070700
3CSPP1NM_024790.6(CSPP1): c.2280delA (p.Glu761Lysfs)deletionPathogenicGRCh37Chr 8, 68070735: 68070735
4NM_024790.6(CSPP1): c.3212dupA (p.Tyr1071Terfs)duplicationPathogenicGRCh37Chr 8, 68102891: 68102891
5CSPP1NM_024790.6(CSPP1): c.2953+1G> Asingle nucleotide variantPathogenicGRCh37Chr 8, 68084791: 68084791
6CSPP1NM_024790.6(CSPP1): c.2527_2528delAT (p.Met843Glufs)deletionPathogenicGRCh37Chr 8, 68074049: 68074050
7CSPP1NM_024790.6(CSPP1): c.658C> T (p.Arg220Ter)single nucleotide variantPathogenicrs375113643GRCh37Chr 8, 68007675: 68007675
8CSPP1NM_024790.6(CSPP1): c.363_364delTA (p.His121Glnfs)deletionPathogenicGRCh37Chr 8, 67998297: 67998298
9CSPP1NM_024790.6(CSPP1): c.2244_2247delAAGA (p.Glu750Lysfs)deletionPathogenicGRCh37Chr 8, 68070699: 68070702
10CSPP1NM_024790.6(CSPP1): c.652C> T (p.Gln218Ter)single nucleotide variantPathogenicGRCh37Chr 8, 68007669: 68007669
11CSPP1NM_024790.6(CSPP1): c.2773C> T (p.Arg925Ter)single nucleotide variantPathogenicGRCh37Chr 8, 68076703: 68076703
12RPGRIP1LNM_001127897.1(RPGRIP1L): c.685G> A (p.Ala229Thr)single nucleotide variantPathogenic, risk factorrs61747071GRCh37Chr 16, 53720436: 53720436
13TMEM67TMEM67, 13-BP DEL, 2-BP INSindelPathogenic
14TMEM67TMEM67, IVS23+5G-Csingle nucleotide variantPathogenic
15TMEM67TMEM67, IVS6+2T-Gsingle nucleotide variantPathogenic
16TMEM67NM_001142301.1(TMEM67): c.1391G> A (p.Gly464Glu)single nucleotide variantPathogenicrs267607114GRCh37Chr 8, 94805484: 94805484
17TMEM67NM_153704.5(TMEM67): c.130C> T (p.Gln44Ter)single nucleotide variantPathogenicrs267607118GRCh37Chr 8, 94767272: 94767272
18TMEM67NM_001142301.1(TMEM67): c.512T> C (p.Met171Thr)single nucleotide variantPathogenicrs202149403GRCh37Chr 8, 94792861: 94792861
19ARL13BNM_182896.2(ARL13B): c.236G> A (p.Arg79Gln)single nucleotide variantPathogenicrs121912606GRCh37Chr 3, 93722608: 93722608
20ARL13BNM_182896.2(ARL13B): c.246G> A (p.Trp82Ter)single nucleotide variantPathogenicrs121912607GRCh37Chr 3, 93722618: 93722618
21ARL13BNM_182896.2(ARL13B): c.598C> T (p.Arg200Cys)single nucleotide variantPathogenicrs121912608GRCh37Chr 3, 93755507: 93755507
22TCTN1NM_024549.5(TCTN1): c.221-2A> Gsingle nucleotide variantPathogenicrs367543065GRCh37Chr 12, 111057639: 111057639
23TMEM67TMEM67, PRO358LEUundetermined variantPathogenic
24CEP41CEP41, IVS1DS, T-G, +2single nucleotide variantPathogenic
25CEP41CEP41, 3-BP DEL, IVS1DS, 97GAGdeletionPathogenic
26CEP41CEP41, IVS6AS, A-C, -2single nucleotide variantPathogenic
27CEP41CEP41, SER28TERsingle nucleotide variantPathogenic
28TMEM237NM_001044385.2(TMEM237): c.52C> T (p.Arg18Ter)single nucleotide variantPathogenicrs199469707GRCh37Chr 2, 202505638: 202505638
29TMEM237TMEM237, IVS9DS, G-T, +1single nucleotide variantPathogenic
30TMEM237TMEM237, 1-BP DUP, 1066CduplicationPathogenic
31TMEM237NM_001044385.2(TMEM237): c.76C> T (p.Gln26Ter)single nucleotide variantPathogenicrs387907131GRCh37Chr 2, 202504987: 202504987
32TMEM237TMEM237, IVS11DS, G-T, +1single nucleotide variantPathogenic
33C5orf42NM_023073.3(C5orf42): c.4006C> T (p.Arg1336Trp)single nucleotide variantPathogenicrs367543061GRCh37Chr 5, 37187590: 37187590
34C5orf42NM_023073.3(C5orf42): c.7400+1G> Asingle nucleotide variantPathogenicrs367543062GRCh37Chr 5, 37167148: 37167148
35C5orf42NM_023073.3(C5orf42): c.6407delC (p.Pro2136Hisfs)deletionPathogenicrs367543064GRCh37Chr 5, 37170198: 37170198
36C5orf42NM_023073.3(C5orf42): c.4804C> T (p.Arg1602Ter)single nucleotide variantPathogenicrs367543063GRCh37Chr 5, 37183479: 37183479
37C5orf42NM_023073.3(C5orf42): c.7477C> T (p.Arg2493Ter)single nucleotide variantPathogenicrs139675596GRCh37Chr 5, 37165697: 37165697
38C5orf42NM_023073.3(C5orf42): c.7957+288G> Asingle nucleotide variantPathogenicrs111294855GRCh37Chr 5, 37157484: 37157484
39INPP5ENM_019892.4(INPP5E): c.1543C> T (p.Arg515Trp)single nucleotide variantPathogenicrs13297509GRCh37Chr 9, 139326282: 139326282
40INPP5ENM_019892.4(INPP5E): c.1688G> A (p.Arg563His)single nucleotide variantPathogenicrs121918128GRCh37Chr 9, 139324843: 139324843
41TMEM231NM_001077416.2(TMEM231): c.74T> A (p.Met25Lys)single nucleotide variantPathogenicrs397514609GRCh37Chr 16, 75590096: 75590096
42TMEM231NM_001077416.2(TMEM231): c.784G> A (p.Asp262Asn)single nucleotide variantPathogenicrs200799769GRCh37Chr 16, 75576539: 75576539
43INPP5ENM_019892.4(INPP5E): c.1304G> A (p.Arg435Gln)single nucleotide variantPathogenicrs121918129GRCh37Chr 9, 139327014: 139327014
44INPP5ENM_019892.4(INPP5E): c.1132C> T (p.Arg378Cys)single nucleotide variantPathogenicrs121918130GRCh37Chr 9, 139327634: 139327634

Expression for genes affiliated with Joubert Syndrome 1

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Search GEO for disease gene expression data for Joubert Syndrome 1.

Pathways for genes affiliated with Joubert Syndrome 1

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Compounds for genes affiliated with Joubert Syndrome 1

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GO Terms for genes affiliated with Joubert Syndrome 1

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Cellular components related to Joubert Syndrome 1 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1axonemeGO:00059309.6RPGRIP1L, INPP5E
2centrioleGO:00058149.6CEP41, AHI1
3ciliary membraneGO:00601709.5ARL13B, TMEM231, TMEM67
4primary ciliumGO:00723729.4ARL13B, CEP41, AHI1
5cytoskeletonGO:00058569.2TCTN2, TCTN1, INPP5E
6ciliary transition zoneGO:00358699.1B9D1, TMEM231, TMEM237
7ciliumGO:00059299.1AHI1, RPGRIP1L, ARL13B
8ciliary basal bodyGO:00360647.9B9D1, AHI1, MKS1, CEP41, RPGRIP1L
9centrosomeGO:00058137.2B9D1, AHI1, MKS1, TMEM67, CEP41, RPGRIP1L
10TCTN-B9D complexGO:00360387.2TCTN2, TCTN1, TMEM231, TMEM67, MKS1, AHI1

Biological processes related to Joubert Syndrome 1 according to GeneCards Suite gene sharing:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1neural tube patterningGO:00215329.8ARL13B, RPGRIP1L
2determination of left/right symmetryGO:00073689.7ARL13B, RPGRIP1L
3regulation of smoothened signaling pathwayGO:00085899.6TCTN1, RPGRIP1L
4camera-type eye developmentGO:00430108.8RPGRIP1L, B9D1
5in utero embryonic developmentGO:00017018.7RPGRIP1L, TCTN1, B9D1
6smoothened signaling pathwayGO:00072248.7B9D1, TMEM231, TCTN2, ARL13B
7cilium morphogenesisGO:00602717.5B9D1, AHI1, MKS1, TMEM67, TCTN1, TCTN2
8cilium assemblyGO:00423846.0ARL13B, B9D1, AHI1, MKS1, TMEM67, TMEM231

Products for genes affiliated with Joubert Syndrome 1

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Sources for Joubert Syndrome 1

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
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61UMLS via Orphanet