FSS
MCID: DST002
MIFTS: 61

Distal Arthrogryposis (FSS) malady

Genetic diseases, Rare diseases, Fetal diseases, Muscle diseases categories
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Summaries for Distal Arthrogryposis

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NIH Rare Diseases:42 Arthrogryposis multiplex congenita (amc) is a group of nonprogressive conditions that cause multiple joint contractures (stiff joints) and abnormal muscle development. the signs and symptoms of amc are present at birth but can vary greatly in severity. the exact cause of amc is not fully understood, but it is thought to be associated with decreased movement or limited space in utero, connective tissue disorders, or maternal illness. sometimes amc occurs as part of genetic syndrome. treatment focuses on the specific symptoms experienced by each individual and may include physical therapy, removable splints, exercise, or surgery. last updated: 12/18/2012

MalaCards based summary: Distal Arthrogryposis, also known as arthrogryposis multiplex congenita, is related to distal arthrogryposis type 5 and clubfoot, and has symptoms including hypertelorism, downslanted palpebral fissures/anti-mongoloid slanting palpebral fissures and grooved/dimple chin. An important gene associated with Distal Arthrogryposis is MYH3 (myosin, heavy chain 3, skeletal muscle, embryonic), and among its related pathways is Striated Muscle Contraction. Affiliated tissues include testes, eye and skeletal muscle.

Disease Ontology:8 A muscle tissue disease characterized by congenital joint contractures of hand and feet.

Genetics Home Reference:21 Freeman-Sheldon syndrome is a condition that primarily affects the face, hands, and feet. People with this disorder have a distinctive facial appearance including a small mouth (microstomia) with pursed lips, giving the appearance of a "whistling face." For this reason, the condition is sometimes called "whistling face syndrome."

Wikipedia:65 Arthrogryposis multiplex congenita (AMC), or simply arthrogryposis, describes congenital joint... more...

Descriptions from OMIM:46 601680, 609128, 187370, 615065, 108145 114300, 121070, 158300, 108200, 614335, 108120, 178110, 193700, 121050, 277720 more

Aliases & Classifications for Distal Arthrogryposis

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Sources:
8Disease Ontology, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 62UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Distal Arthrogryposis, Aliases & Descriptions:

Name: Distal Arthrogryposis 8 22 10
Arthrogryposis Multiplex Congenita 8 42 22 62
Craniocarpotarsal Dysplasia 42 21 48 62
Craniocarpotarsal Dystrophy 42 21 48 62
Freeman-Sheldon Syndrome 8 21 48 62
Whistling Face-Windmill Vane Hand Syndrome 42 21 62
Freeman Sheldon Syndrome 42 20 22
Arthrogryposis 42 44 62
Fibrous Ankylosis of Multiple Joints 42 62
Congenital Multiple Arthrogryposis 42 62
Myodystrophia Fetalis Deformans 42 62
Arthrogryposis Distal Type 2a 42 20
Rocher-Sheldon Syndrome 42 62
Whistling Face Syndrome 21 48
Guerin-Stern Syndrome 42 62
 
Rossi Syndrome 42 62
Otto Syndrome 42 62
Da2a 42 21
Fss 42 21
Freeman-Sheldon Syndrome Variant 8
Arthrogryposis, Distal, Type 2b 62
Arthrogryposis, Distal, Type 2a 46
Distal Arthrogryposis, Type 2a 21
Distal Arthrogryposis Syndrome 62
Arthromyodysplasia, Congenital 62
Congenital Arthromyodysplasia 42
Distal Arthrogryposis Type 2a 48
Guérin-Stern Syndrome 42
Sheldon-Hall Syndrome 8


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Muscle diseases


Characteristics (Orphanet epidemiological data):

48
craniocarpotarsal dysplasia:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


External Ids:

Disease Ontology8 DOID:0050646
MESH via Orphanet35 C535483
ICD10 via Orphanet26 Q87.0
UMLS via Orphanet63 C0265224

Related Diseases for Distal Arthrogryposis

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Diseases in the Distal Arthrogryposis Type 5 family:

distal arthrogryposis Arthrogryposis Distal Type 2b
Arthrogryposis, Distal, Type 1b Arthrogryposis, Distal, Type 10
Arthrogryposis, Distal, Type 5d

Diseases related to Distal Arthrogryposis via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 206)
idRelated DiseaseScoreTop Affiliating Genes
1distal arthrogryposis type 530.9MYH3, TPM2
2clubfoot29.6MYH3, TNNT3, TPM2, TNNI2
3nemaline myopathy29.5TNNI2, TNNT3, TPM2
4arthrogryposis multiplex congenita neurogenic type10.7
5arthrogryposis multiplex congenita whistling face10.7
6arthrogryposis multiplex congenita distal type 110.6
7arthrogryposis multiplex congenita pulmonary hypoplasia10.6
8autosomal recessive myogenic arthrogryposis multiplex congenita10.6
9muscular dystrophy10.5
10arthrogryposis multiplex congenita, distal, x-linked10.5
11antenatal multiminicore disease with arthrogryposis multiplex congenita10.5
12laryngitis10.5
13faces syndrome10.5
14laryngomalacia10.5
15pseudohypoaldosteronism type ii10.5
16arthrogryposis, distal, type 5d10.5
17arthrogryposis distal type 2b10.5
18mental retardation10.5
19hydranencephaly10.4
20neurogenic bladder10.4
21arc syndrome10.4
22congenital muscular dystrophy10.4
23neuropathy10.4
24arthrogryposis multiplex congenita cns calcification10.4
25boylan dew greco syndrome10.4
26myh3-related arthrogryposis multiplex congenita, distal, type 2b10.4
27tnni2-related arthrogryposis multiplex congenita, distal, type 2b10.4
28tnnt3-related arthrogryposis multiplex congenita, distal, type 2b10.4
29tpm2-related arthrogryposis multiplex congenita, distal, type 2b10.4
30pelvic dysplasia arthrogryposis of lower limbs10.4
31whistling face syndrome, recessive form10.4
32cleft palate10.4
33arthrogryposis-like hand anomaly and sensorineural deafness10.4
34arthrogryposis - severe scoliosis10.4
35richieri-costa colletto otto syndrome10.4
36neuroleptic malignant syndrome10.3
37choanal atresia10.3
38coloboma10.3
39cerebritis10.3
40sleep disorder10.3
41dysphagia10.3
42hypertonia10.3
43venous thrombosis10.3
44malignant hyperthermia arthrogryposis torticollis10.3
45myopathy10.3
46congenital contractures10.3
47distal arthrogryposis moore weaver type10.3
48fetal akinesia deformation sequence10.3
49trismus-pseudocamptodactyly syndrome10.3
50arthrogryposis, distal, type 1010.3

Graphical network of the top 20 diseases related to Distal Arthrogryposis:



Diseases related to distal arthrogryposis

Symptoms for Distal Arthrogryposis

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Symptoms by clinical synopsis from OMIM:

193700

Clinical features from OMIM:

601680, 609128, 187370, 615065, 108145, 114300, 121070, 158300, 108200, 614335 108120, 178110, 193700, 121050, 277720 more

Symptoms:

48 (show all 33)
  • hypertelorism
  • downslanted palpebral fissures/anti-mongoloid slanting palpebral fissures
  • grooved/dimple chin
  • limited opening of the mouth
  • long/large/bulbous nose
  • broad nose/nasal bridge
  • broad nasal root
  • thin/hypoplastic ala nasi
  • microstomia/little mouth
  • abnormal dentition/dental position/implantation/unerupted/dental ankylosis
  • scoliosis
  • camptodactyly of fingers
  • ulnar deviation of fingers
  • talipes-varus/metatarsal varus
  • restricted joint mobility/joint stiffness/ankylosis
  • autosomal dominant inheritance
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • deepset eyes/enophthalmos
  • strabismus/squint
  • ptosis
  • small/triangular nares/nostrils
  • long philtrum
  • hearing loss/hypoacusia/deafness
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
  • short stature/dwarfism/nanism
  • malignant hyperthermia
  • fetal immobility/abnormal fetal movements
  • herniae
  • absence of palmar creases
  • autosomal recessive inheritance
  • oligoamnios
  • polyhydramnios

HPO human phenotypes related to Distal Arthrogryposis:

(show all 123)
id Description Frequency HPO Source Accession
1 low-set, posteriorly rotated ears hallmark (90%) HP:0000368
2 depressed nasal ridge hallmark (90%) HP:0000457
3 congenital diaphragmatic hernia hallmark (90%) HP:0000776
4 lymphedema hallmark (90%) HP:0001004
5 polyhydramnios hallmark (90%) HP:0001561
6 talipes hallmark (90%) HP:0001883
7 abnormality of the pleura hallmark (90%) HP:0002103
8 scoliosis hallmark (90%) HP:0002650
9 abnormality of the wrist hallmark (90%) HP:0003019
10 abnormality of the hip bone hallmark (90%) HP:0003272
11 abnormality of the gastric mucosa hallmark (90%) HP:0004295
12 aplasia/hypoplasia of the lungs hallmark (90%) HP:0006703
13 ulnar deviation of finger hallmark (90%) HP:0009465
14 narrow mouth hallmark (90%) HP:0000160
15 abnormality of the teeth hallmark (90%) HP:0000164
16 trismus hallmark (90%) HP:0000211
17 hypertelorism hallmark (90%) HP:0000316
18 underdeveloped nasal alae hallmark (90%) HP:0000430
19 wide nasal bridge hallmark (90%) HP:0000431
20 downslanted palpebral fissures hallmark (90%) HP:0000494
21 limitation of joint mobility hallmark (90%) HP:0001376
22 talipes hallmark (90%) HP:0001883
23 scoliosis hallmark (90%) HP:0002650
24 ulnar deviation of finger hallmark (90%) HP:0009465
25 chin dimple hallmark (90%) HP:0010751
26 camptodactyly of finger hallmark (90%) HP:0100490
27 cryptorchidism typical (50%) HP:0000028
28 long philtrum typical (50%) HP:0000343
29 hearing impairment typical (50%) HP:0000365
30 strabismus typical (50%) HP:0000486
31 deeply set eye typical (50%) HP:0000490
32 ptosis typical (50%) HP:0000508
33 prenatal movement abnormality typical (50%) HP:0001557
34 malignant hyperthermia typical (50%) HP:0002047
35 neurological speech impairment typical (50%) HP:0002167
36 short stature typical (50%) HP:0004322
37 abnormality of the nares typical (50%) HP:0005288
38 intellectual disability 31% HP:0001249
39 polyhydramnios occasional (7.5%) HP:0001561
40 oligohydramnios occasional (7.5%) HP:0001562
41 absent palmar crease occasional (7.5%) HP:0010489
42 hernia occasional (7.5%) HP:0100790
43 cryptorchidism HP:0000028
44 scrotal hypoplasia HP:0000046
45 labial hypoplasia HP:0000066
46 round face HP:0000311
47 facial asymmetry HP:0000324
48 micrognathia HP:0000347
49 anteverted nares HP:0000463
50 torticollis HP:0000473
51 pterygium HP:0001059
52 tapered finger HP:0001182
53 interphalangeal joint contracture of finger HP:0001220
54 gastroschisis HP:0001543
55 decreased fetal movement HP:0001558
56 breech presentation HP:0001623
57 scoliosis HP:0002650
58 arthrogryposis multiplex congenita HP:0002804
59 hip dislocation HP:0002827
60 short nose HP:0003196
61 short nose HP:0003196
62 sporadic HP:0003745
63 facial midline hemangioma HP:0004664
64 jejunal atresia HP:0005235
65 metacarpophalangeal joint contracture HP:0006070
66 patellar aplasia HP:0006443
67 internally rotated shoulders HP:0006659
68 hypoplastic biceps HP:0009007
69 short finger HP:0009381
70 amniotic constriction ring HP:0009775
71 down-sloping shoulders HP:0200021
72 autosomal dominant inheritance HP:0000006
73 autosomal recessive inheritance HP:0000007
74 inguinal hernia HP:0000023
75 cryptorchidism HP:0000028
76 narrow mouth HP:0000160
77 high palate HP:0000218
78 microcephaly HP:0000252
79 malar flattening HP:0000272
80 epicanthus HP:0000286
81 mask-like facies HP:0000298
82 mandibular prognathia HP:0000303
83 long philtrum HP:0000343
84 whistling appearance HP:0000346
85 underdeveloped nasal alae HP:0000430
86 wide nasal bridge HP:0000431
87 short neck HP:0000470
88 strabismus HP:0000486
89 deeply set eye HP:0000490
90 telecanthus HP:0000506
91 ptosis HP:0000508
92 blepharophimosis HP:0000581
93 abnormality of the skin HP:0000951
94 adducted thumb HP:0001181
95 ulnar deviation of the hand or of fingers of the hand HP:0001193
96 seizures HP:0001250
97 cerebellar atrophy HP:0001272
98 muscle weakness HP:0001324
99 failure to thrive HP:0001508
100 small for gestational age HP:0001518
101 nasal speech HP:0001611
102 breech presentation HP:0001623
103 talipes equinovarus HP:0001762
104 rocker bottom foot HP:0001838
105 fever HP:0001945
106 malignant hyperthermia HP:0002047
107 hypoplasia of the brainstem HP:0002365
108 kyphoscoliosis HP:0002751
109 hip dislocation HP:0002827
110 shoulder flexion contracture HP:0003044
111 short nose HP:0003196
112 hip contracture HP:0003273
113 spina bifida occulta HP:0003298
114 flexion contracture of toe HP:0005830
115 knee flexion contracture HP:0006380
116 abnormal auditory evoked potentials HP:0006958
117 postnatal growth retardation HP:0008897
118 joint contracture of the hand HP:0009473
119 chin dimple HP:0010751
120 prominent forehead HP:0011220
121 chin with h-shaped crease HP:0011824
122 flat face HP:0012368
123 camptodactyly HP:0012385

Drugs & Therapeutics for Distal Arthrogryposis

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Drug clinical trials:

Search ClinicalTrials for Distal Arthrogryposis

Search NIH Clinical Center for Distal Arthrogryposis

Genetic Tests for Distal Arthrogryposis

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Genetic tests related to Distal Arthrogryposis:

id Genetic test Affiliating Genes
1 Freeman-Sheldon Syndrome20 22 MYH3
2 Arthrogryposis, Distal, Type 2a20 MYH3
3 Arthrogryposis Multiplex Congenita22
4 Distal Arthrogryposis22

Anatomical Context for Distal Arthrogryposis

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MalaCards organs/tissues related to Distal Arthrogryposis:

32
Testes, Eye, Skeletal muscle, Testis

Animal Models for Distal Arthrogryposis or affiliated genes

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Publications for Distal Arthrogryposis

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Articles related to Distal Arthrogryposis:

(show top 50)    (show all 78)
idTitleAuthorsYear
1
Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5. (24726473)
2014
2
Distal arthrogryposis type 5D with a novel ECEL1 gene mutation. (25099528)
2014
3
Mutations in ECEL1 cause distal arthrogryposis type 5D. (23261301)
2013
4
Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal Arthrogryposis. (23487782)
2013
5
Identification of three novel ECEL1 mutations in three families with distal arthrogryposis type 5D. (23829171)
2013
6
Loss of actomyosin regulation in distal arthrogryposis myopathy due to mutant myosin binding protein-C slow. (23657818)
2013
7
The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposis. (23236030)
2013
8
Distal arthrogryposis: clinical and genetic findings. (22519952)
2012
9
Exome sequencing identifies an MYH3 mutation in a family with distal arthrogryposis type 1. (21531865)
2011
10
Pure de novo 17q25.3 micro duplication characterized by micro array CGH in a dysmorphic infant with growth retardation, developmental delay and distal arthrogryposis. (20420026)
2010
11
Myosin binding protein C1: a novel gene for autosomal dominant distal arthrogryposis type 1. (20045868)
2010
12
Juvenile macular dystrophy and forearm pronation-supination restriction presenting with features of distal arthrogryposis type 5. (19213027)
2009
13
Embryonic myosin heavy-chain mutations cause distal arthrogryposis and developmental myosin myopathy that persists postnatally. (18695058)
2008
14
Distal arthrogryposis and muscle weakness associated with a beta-tropomyosin mutation. (17339586)
2007
15
Bilateral discoid medial menisci accompanied by distal arthrogryposis: a case report. (16983564)
2007
16
Molecular prenatal diagnosis for hereditary distal arthrogryposis type 2B. (17380469)
2007
17
Mitochondrial mutation in a child with distal arthrogryposis. (16353243)
2006
18
A new distal arthrogryposis syndrome characterized by plantar flexion contractures. (17103435)
2006
19
A TNNI2 mutation in a family with distal arthrogryposis type 2B. (16497570)
2006
20
Recurrence of the p.R156X TNNI2 mutation in distal arthrogryposis type 2B. (17101001)
2006
21
Distal arthrogryposis type 2A may be associated with juvenile glaucoma. (16278894)
2005
22
Re: distal arthrogryposis in two sisters born to different fathers [Hwu et al. 2004. Am J Med Genet 125A:100-101.]. (16001435)
2005
23
Distal arthrogryposis and neonatal hypotonia: an unusual presentation of Prader-Willi syndrome (PWS). (15510104)
2004
24
Prenatal diagnosis of mosaic tetrasomy 10p associated with megacisterna magna, echogenic focus of left ventricle, umbilical cord cysts and distal arthrogryposis. (12599193)
2003
25
Mutations in TNNT3 cause multiple congenital contractures: a second locus for distal arthrogryposis type 2B. (12865991)
2003
26
A family with distal arthrogryposis and cleft palate: possible overlap between Gordon syndrome and Aase-Smith syndrome. (11152147)
2001
27
Ocular findings in distal arthrogryposis. (11455953)
2001
28
Two brothers with distal arthrogryposis, peculiar facial appearance, cleft palate, short stature, hydronephrosis, retentio testis, and normal intelligence: a new type of distal arthrogryposis? (10766984)
2000
29
Progressive neurological deterioration in a child with distal arthrogryposis and whistling face. (10777369)
2000
30
Cleft palate, ptosis, digital anomalies and mental retardation: a new syndrome or a distal arthrogryposis variant? (10327254)
1999
31
Prenatal diagnosis of distal arthrogryposis type 1. (10384996)
1999
32
A family with autosomal dominant distal arthrogryposis multiplex congenita and brown syndrome. (10617921)
1999
33
Marden-Walker syndrome versus isolated distal arthrogryposis: evidence that both conditions may be variable manifestations of the same mutated gene. (9727748)
1998
34
Distal arthrogryposis, ectodermal dysplasia and dilated cardiomyopathy--a new syndrome? (9689995)
1998
35
Familial distal arthrogryposis type I. (8766137)
1996
36
Extending the spectrum of distal arthrogryposis. (8923937)
1996
37
Distal arthrogryposis type IIB: further clinical delineation and 54-year follow-up of an index case. (8533802)
1995
38
Dominant distal arthrogryposis in a Maori family with marked variability of expression. (7762579)
1995
39
A gene for distal arthrogryposis type I maps to the pericentromeric region of chromosome 9. (7977374)
1994
40
Distal arthrogryposis with autosomal dominant inheritance and reduced penetrance in females: the Gordon syndrome. (8370149)
1993
41
Distal arthrogryposis, mental retardation, whistling face, and Pierre Robin sequence: another case. (1488995)
1992
42
Distal arthrogryposis, specific facial dysmorphism and psychomotor retardation: a recognizable entity in surviving patients with the fetal akinesia deformation sequence. (1723604)
1991
43
Association of distal arthrogryposis, mental retardation, whistling face, and Pierre Robin sequence: evidence for nosologic heterogeneity. (2063898)
1991
44
Syndrome of mental retardation and distal arthrogryposis in sibs. (1951463)
1991
45
Familial distal arthrogryposis with craniofacial abnormalities: a new subtype of type II? (2764034)
1989
46
Prenatal diagnosis of distal arthrogryposis. (3287922)
1988
47
Distal arthrogryposis type II D in three generations of a Brazilian family. (3565478)
1987
48
Distal arthrogryposis type II: a family with varying congenital abnormalities. (3717209)
1986
49
An unusual distal arthrogryposis. (3993671)
1985
50
Autosomal-dominant inheritance of distal arthrogryposis. (7446562)
1980

Variations for Distal Arthrogryposis

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UniProtKB/Swiss-Prot genetic disease variations for Distal Arthrogryposis:

64
id Symbol AA change Variation ID SNP ID
1MYH3p.Thr178IleVAR_030370
2MYH3p.Glu498GlyVAR_030374
3MYH3p.Tyr583SerVAR_030376
4MYH3p.Arg672CysVAR_030377
5MYH3p.Arg672HisVAR_030378
6MYH3p.Val825AspVAR_030380

Clinvar genetic disease variations for Distal Arthrogryposis:

6
id Gene Name Type Significance SNP ID Assembly Location
1MYH3NM_002470.3(MYH3): c.2015G> A (p.Arg672His)single nucleotide variantPathogenicrs121913617GRCh37Chr 17, 10544634: 10544634
2MYH3NM_002470.3(MYH3): c.2014C> T (p.Arg672Cys)single nucleotide variantPathogenicrs121913618GRCh37Chr 17, 10544635: 10544635
3MYH3NM_002470.3(MYH3): c.533C> T (p.Thr178Ile)single nucleotide variantPathogenicrs121913619GRCh37Chr 17, 10553691: 10553691
4MYH3NM_002470.3(MYH3): c.2474T> A (p.Val825Asp)single nucleotide variantPathogenicrs121913620GRCh37Chr 17, 10543521: 10543521

Expression for genes affiliated with Distal Arthrogryposis

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Expression patterns in normal tissues for genes affiliated with Distal Arthrogryposis

Search GEO for disease gene expression data for Distal Arthrogryposis.

Pathways for genes affiliated with Distal Arthrogryposis

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Pathways related to Distal Arthrogryposis according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
7.9MYBPC2, MYH3, TPM2, TNNT3, TNNI2

Compounds for genes affiliated with Distal Arthrogryposis

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GO Terms for genes affiliated with Distal Arthrogryposis

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Cellular components related to Distal Arthrogryposis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1troponin complexGO:0058619.3TNNT3, TNNI2
2myosin filamentGO:0329829.2MYBPC2, MYH3
3cytosolGO:0058297.9MYBPC2, MYH3, TPM2, TNNT3, TNNI2

Biological processes related to Distal Arthrogryposis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1ATP catabolic processGO:0062009.4TNNT3, MYH3
2regulation of ATPase activityGO:0434629.0TPM2, TNNT3
3skeletal muscle contractionGO:0030098.9MYH3, TNNI2, TNNT3
4muscle filament slidingGO:0300497.9MYH3, TNNI2, TNNT3, TPM2, MYBPC2

Molecular functions related to Distal Arthrogryposis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1structural constituent of muscleGO:0083079.4MYBPC2, TPM2
2actin bindingGO:0037797.6MYBPC2, MYH3, TPM2, TNNT3, TNNI2

Products for genes affiliated with Distal Arthrogryposis

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Sources for Distal Arthrogryposis

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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