MCID: ART119
MIFTS: 49

Arthrogryposis, Distal, Type 5

Categories: Genetic diseases, Rare diseases, Muscle diseases, Fetal diseases, Oral diseases, Bone diseases, Ear diseases

Aliases & Classifications for Arthrogryposis, Distal, Type 5

MalaCards integrated aliases for Arthrogryposis, Distal, Type 5:

Name: Arthrogryposis, Distal, Type 5 53
Oculomelic Amyoplasia 53 72 49 55 71 28 69
Sheldon-Hall Syndrome 53 49 24 55 71
Freeman-Sheldon Syndrome Variant 53 49 55 71
Distal Arthrogryposis Type 2b 49 24 55 28
Da2b 53 49 24 71
Arthrogryposis with Oculomotor Limitation and Electroretinal Abnormalities 53 49 71
Arthrogryposis Multiplex Congenita, Distal, Type 2b 53 24 13
Distal Arthrogryposis Type Iib 49 55 71
Shs 53 24 71
Arthrogryposis Multiplex Congenita Distal Type Ii with Craniofacial Abnormalities 49 71
Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome 49 55
Arthrogryposis Multiplex Congenita Distal Type 2b 49 71
Distal Arthrogryposis with Ophthalmoplegia 49 55
Arthrogryposis, Distal, Type 2b 53 69
Distal Arthrogryposis Type 5 49 55
Daiib 53 71
Fssv 53 71
Da5 53 71
Arthrogryposis Multiplex Congenita, Distal, Type Ii, with Craniofacial Abnormalities 53
Arthogryposis with Oculomotor Limitation and Electroretinal Abnormalities 49
Arthrogryposis- Oculomotor Limitation-Electroretinal Anomalies Syndrome 49
Arthrogryposis Ophthalmoplegia Retinopathy 49
Arthrogryposis, Distal, Type Iib; Daiib 53
Freeman-Sheldon Syndrome Variant; Fssv 53
Freeman Sheldon Syndrome, Variant 49
Arthrogryposis, Distal, Type Iib 53
Sheldon-Hall Syndrome; Shs 53
Arthrogryposis, Distal, 2b 71
Arthrogryposis, Distal, 5 71
Freeman Sheldon Variant 49
Amcd2b 71

Characteristics:

Orphanet epidemiological data:

55
arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Neonatal; Age of death: normal life expectancy;
sheldon-hall syndrome
Inheritance: Autosomal dominant,Not applicable; Age of onset: Neonatal; Age of death: normal life expectancy;

OMIM:

53
Inheritance:
autosomal dominant


HPO:

31
arthrogryposis, distal, type 5:
Inheritance autosomal dominant inheritance

arthrogryposis, distal, type 2b:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Arthrogryposis, Distal, Type 5

OMIM : 53 Distal arthrogryposis type 5 is distinguished from other forms of DA by the presence of ocular abnormalities, typically ptosis, ophthalmoplegia, and/or strabismus, in addition to contractures of the skeletal muscles. Some cases have been reported to have pulmonary hypertension as a result of restrictive lung disease (summary by Bamshad et al., 2009). There are 2 syndromes with features overlapping those of DA5 that are also caused by heterozygous mutation in PIEZO2: distal arthrogryposis type 3 (DA3, or Gordon syndrome; 114300) and Marden-Walker syndrome (MWKS; 248700), which are distinguished by the presence of cleft palate and mental retardation, respectively. McMillin et al. (2014) suggested that the 3 disorders might represent variable expressivity of the same condition. For a general phenotypic description and a discussion of genetic heterogeneity of distal arthrogryposis, see DA1A (108120). (108145)

MalaCards based summary : Arthrogryposis, Distal, Type 5, also known as oculomelic amyoplasia, is related to distal arthrogryposis and renpenning syndrome 1, and has symptoms including joint stiffness, ophthalmoplegia and ulnar deviation of the wrist. An important gene associated with Arthrogryposis, Distal, Type 5 is TPM2 (Tropomyosin 2), and among its related pathways/superpathways are Cardiac conduction and Striated Muscle Contraction. Affiliated tissues include lung, skeletal muscle and eye.

UniProtKB/Swiss-Prot : 71 Arthrogryposis, distal, 2B: A form of distal arthrogryposis, a disease characterized by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a primary neurological or muscle disease. DA2B is characterized by contractures of the hands and feet, and a distinctive face characterized by prominent nasolabial folds, small mouth and downslanting palpebral fissures. Arthrogryposis, distal, 5: A form of distal arthrogryposis, a disease characterized by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a primary neurological or muscle disease. DA5 features include ocular abnormalities, typically ptosis, ophthalmoplegia and/or strabismus, in addition to contractures of the skeletal muscles. Some patients have pulmonary hypertension as a result of restrictive lung disease.

NIH Rare Diseases : 49 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1154Disease definitionDistal arthrogryposis type 5 is an inherited developmental defect syndrome characterized by multiple congenitalcontractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and ocular anomalies (ptosis, external ophtalmoplegia and/or strabismus). Intelligence is normal.Visit the Orphanet disease page for more resources. Last updated: 2/29/2012

Genetics Home Reference : 24 Sheldon-Hall syndrome, also known as distal arthrogryposis type 2B, is a disorder characterized by joint deformities (contractures) that restrict movement in the hands and feet. The term "arthrogryposis" comes from the Greek words for joint (arthro-) and crooked or hooked (gryposis). "Distal" refers to areas of the body away from the center. The characteristic features of this condition include permanently bent fingers and toes (camptodactyly), overlapping fingers, and a hand deformity called ulnar deviation in which all of the fingers are angled outward toward the fifth (pinky) finger. Inward- and upward-turning feet (a condition called clubfoot) is also commonly seen in Sheldon-Hall syndrome. The specific hand and foot abnormalities vary among affected individuals; the abnormalities are present at birth and generally do not get worse over time.

Wikipedia : 72 Arthrogryposis multiplex congenital (AMC), or simply arthrogryposis, describes congenital joint... more...

Related Diseases for Arthrogryposis, Distal, Type 5

Diseases in the Distal Arthrogryposis family:

Arthrogryposis, Distal, Type 1a Arthrogryposis, Distal, Type 5
Arthrogryposis, Distal, Type 6 Arthrogryposis, Distal, Type 3
Arthrogryposis, Distal, Type 9 Arthrogryposis, Distal, Type 2e
Arthrogryposis, Distal, Type 7 Arthrogryposis, Distal, Type 8
Arthrogryposis, Distal, Type 10 Arthrogryposis, Distal, Type 2a
Arthrogryposis, Distal, Type 4 Arthrogryposis, Distal, Type 1b
Arthrogryposis, Distal, Type 5d

Diseases related to Arthrogryposis, Distal, Type 5 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 38)
# Related Disease Score Top Affiliating Genes
1 distal arthrogryposis 29.1 MYH3 NALCN PIEZO2 TNNI2 TNNT3 TPM2
2 renpenning syndrome 1 11.2
3 arthrogryposis, distal, type 3 10.9
4 arthrogryposis, distal, type 5d 10.9
5 neuroblastoma 10.7
6 neuronitis 10.2
7 mumps 10.1
8 dysentery 10.1
9 neuropathy 10.0
10 cataract 9.9
11 hepatitis 9.9
12 hepatic coma 9.9
13 senile cataract 9.9
14 endotheliitis 9.9
15 fissured tongue 9.9 TNNI2 TNNT3
16 tongue disease 9.8 TNNI2 TNNT3
17 arthrogryposis, distal, type 2a 9.8 MYH3 NALCN
18 diabetic neuropathy 9.7
19 hemangioma 9.7
20 neutropenia 9.7
21 gastric ulcer 9.7
22 pertussis 9.7
23 esophagitis 9.7
24 cervicitis 9.7
25 sick building syndrome 9.7
26 breast disease 9.7
27 brain stem infarction 9.7
28 sclerosing hemangioma 9.7
29 herpes simplex 9.7
30 fibromatosis 9.7
31 glioma 9.7
32 infantile digital fibromatosis 9.7
33 mercury poisoning 9.7
34 neonatal alloimmune neutropenia 9.7
35 congenital fiber-type disproportion 9.6 TNNI2 TNNT3 TPM2
36 congenital contractures 9.6 NALCN TNNT3
37 clubfoot 9.6 MYH3 TNNT3 TPM2
38 digitotalar dysmorphism 8.9 MYH3 NALCN TNNI2 TNNT3 TPM2

Graphical network of the top 20 diseases related to Arthrogryposis, Distal, Type 5:



Diseases related to Arthrogryposis, Distal, Type 5

Symptoms & Phenotypes for Arthrogryposis, Distal, Type 5

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Eyes:
ophthalmoplegia
ptosis
strabismus
abnormal electroretinogram
blepharophimosis
more
Skeletal Hands:
clinodactyly
camptodactyly
long fingers
limited wrist extension
congenital finger contractures
more
Head And Neck Face:
triangular face
decreased facial expression

Head And Neck Mouth:
high-arched palate
reduced ability to open mouth (in some patients)

Head And Neck Ears:
prominent ears

Skeletal Spine:
spine stiffness
scoliosis (rare)

Skin Nails Hair Skin:
absent phalangeal creases
poorly formed palmar creases
dimples over large joints

Muscle Soft Tissue:
decreased muscle mass (especially in lower limbs)
firm muscles

Chest RibsSternum Clavicles And Scapulae:
pectus excavatum

Growth Height:
short stature

Respiratory Lung:
restrictive lung disease

Neurologic Central Nervous System:
normal intelligence
weak or absent tendon reflexes of knees and ankles (in some patients)

Chest External Features:
hunched, anteverted shoulders

Skeletal Limbs:
limited forearm rotation
absent anterior cruciate ligament bilaterally (in some patients)

Skeletal Feet:
bilateral club feet


Clinical features from OMIM:

108145 601680

Human phenotypes related to Arthrogryposis, Distal, Type 5:

55 31 (show top 50) (show all 68)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 joint stiffness 55 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0001387
2 ophthalmoplegia 55 31 hallmark (90%) Very frequent (99-80%) HP:0000602
3 ulnar deviation of the wrist 55 31 frequent (33%) Frequent (79-30%) HP:0003049
4 short neck 55 31 frequent (33%) Frequent (79-30%) HP:0000470
5 pectus excavatum 55 31 hallmark (90%) Very frequent (99-80%) HP:0000767
6 high palate 55 31 frequent (33%) Frequent (79-30%) HP:0000218
7 ptosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0000508
8 scoliosis 55 31 occasional (7.5%) Very frequent (99-80%) HP:0002650
9 inguinal hernia 55 31 frequent (33%) Frequent (79-30%) HP:0000023
10 macrotia 55 31 frequent (33%) Frequent (79-30%) HP:0000400
11 wide nasal bridge 55 31 frequent (33%) Frequent (79-30%) HP:0000431
12 visual impairment 55 31 frequent (33%) Frequent (79-30%) HP:0000505
13 optic atrophy 55 31 frequent (33%) Frequent (79-30%) HP:0000648
14 short stature 55 31 frequent (33%) Frequent (79-30%) HP:0004322
15 micrognathia 55 31 frequent (33%) Frequent (79-30%) HP:0000347
16 abnormal electroretinogram 55 31 frequent (33%) Frequent (79-30%) HP:0000512
17 abnormality of the hip bone 55 31 frequent (33%) Frequent (79-30%) HP:0003272
18 webbed neck 55 31 hallmark (90%) Very frequent (99-80%) HP:0000465
19 protruding ear 55 31 frequent (33%) Frequent (79-30%) HP:0000411
20 deeply set eye 55 31 hallmark (90%) Very frequent (99-80%) HP:0000490
21 arachnodactyly 55 31 frequent (33%) Frequent (79-30%) HP:0001166
22 narrow face 55 31 frequent (33%) Frequent (79-30%) HP:0000275
23 bilateral single transverse palmar creases 55 31 hallmark (90%) Very frequent (99-80%) HP:0007598
24 round ear 55 31 frequent (33%) Frequent (79-30%) HP:0100830
25 adducted thumb 55 31 hallmark (90%) Very frequent (99-80%) HP:0001181
26 vertebral segmentation defect 55 31 frequent (33%) Frequent (79-30%) HP:0003422
27 triangular face 55 31 frequent (33%) Frequent (79-30%) HP:0000325
28 ulnar deviation of finger 55 31 frequent (33%) Frequent (79-30%) HP:0009465
29 tarsal synostosis 55 31 frequent (33%) Frequent (79-30%) HP:0008368
30 deviation of finger 55 31 frequent (33%) Frequent (79-30%) HP:0004097
31 aplasia/hypoplasia of the radius 55 31 hallmark (90%) Very frequent (99-80%) HP:0006501
32 bilateral talipes equinovarus 55 31 frequent (33%) Frequent (79-30%) HP:0001776
33 congenital finger flexion contractures 55 31 frequent (33%) Frequent (79-30%) HP:0005879
34 absent palmar crease 55 31 frequent (33%) Frequent (79-30%) HP:0010489
35 overlapping fingers 55 31 frequent (33%) Frequent (79-30%) HP:0010557
36 clinodactyly 31 HP:0030084
37 mandibular prognathia 31 HP:0000303
38 abnormality of retinal pigmentation 31 HP:0007703
39 decreased muscle mass 31 HP:0003199
40 long philtrum 31 HP:0000343
41 epicanthus 31 HP:0000286
42 metatarsus adductus 31 HP:0001840
43 arthrogryposis multiplex congenita 31 HP:0002804
44 downslanted palpebral fissures 31 HP:0000494
45 narrow mouth 31 HP:0000160
46 talipes equinovarus 31 HP:0001762
47 blepharophimosis 31 HP:0000581
48 camptodactyly of finger 31 HP:0100490
49 keratoconus 31 HP:0000563
50 astigmatism 31 HP:0000483

UMLS symptoms related to Arthrogryposis, Distal, Type 5:


ophthalmoplegia, ulnar deviation of the wrist

Drugs & Therapeutics for Arthrogryposis, Distal, Type 5

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Human Factors Analysis in VR for Burn Treatment Completed NCT00409552 Phase 1, Phase 2

Search NIH Clinical Center for Arthrogryposis, Distal, Type 5

Genetic Tests for Arthrogryposis, Distal, Type 5

Genetic tests related to Arthrogryposis, Distal, Type 5:

# Genetic test Affiliating Genes
1 Distal Arthrogryposis Type 2b 28 MYH3 TNNI2 TNNT3 TPM2
2 Oculomelic Amyoplasia 28 PIEZO2

Anatomical Context for Arthrogryposis, Distal, Type 5

MalaCards organs/tissues related to Arthrogryposis, Distal, Type 5:

38
Lung, Skeletal Muscle, Eye, Bone

Publications for Arthrogryposis, Distal, Type 5

Articles related to Arthrogryposis, Distal, Type 5:

# Title Authors Year
1
Findings, phenotypes, and outcomes in Freeman-Sheldon and Sheldon-Hall syndromes and distal arthrogryposis types 1 and 3: protocol for systematic review and patient-level data meta-analysis. ( 28264711 )
2017
2
First Korean family with a mutation in TPM2 associated with Sheldon-Hall syndrome. ( 23678273 )
2013
3
A novel mutation in TNNT3 associated with Sheldon-Hall syndrome in a Chinese family with vertical talus. ( 21402185 )
2011
4
Mutations in embryonic myosin heavy chain (MYH3) cause Freeman- Sheldon syndrome and Sheldon-Hall syndrome. ( 16642020 )
2006

Variations for Arthrogryposis, Distal, Type 5

UniProtKB/Swiss-Prot genetic disease variations for Arthrogryposis, Distal, Type 5:

71 (show all 15)
# Symbol AA change Variation ID SNP ID
1 MYH3 p.Thr178Ile VAR_030370 rs121913619
2 MYH3 p.Ser261Phe VAR_030371
3 MYH3 p.Ser292Cys VAR_030372 rs139480342
4 MYH3 p.Glu375Lys VAR_030373 rs121913621
5 MYH3 p.Asp517Tyr VAR_030375
6 MYH3 p.Gly769Val VAR_030379
7 MYH3 p.Lys838Glu VAR_030381
8 PIEZO2 p.Ile802Phe VAR_070938 rs587777076
9 PIEZO2 p.Arg2718Leu VAR_071304 rs587777452
10 PIEZO2 p.Arg2718Pro VAR_071305 rs587777452
11 PIEZO2 p.Ser2739Pro VAR_071306 rs587777454
12 PIEZO2 p.Met712Val VAR_071817 rs587777453
13 TNNI2 p.Arg174Gln VAR_016087 rs104894311
14 TNNT3 p.Arg74His VAR_026453 rs121434638
15 TPM2 p.Arg133Trp VAR_070981 rs137853305

ClinVar genetic disease variations for Arthrogryposis, Distal, Type 5:

6 (show all 27)
# Gene Variation Type Significance SNP ID Assembly Location
1 TNNT3 NM_006757.3(TNNT3): c.188G> A (p.Arg63His) single nucleotide variant Pathogenic rs121434638 GRCh37 Chromosome 11, 1954967: 1954967
2 TNNI2 NM_003282.3(TNNI2): c.521G> A (p.Arg174Gln) single nucleotide variant Pathogenic rs104894311 GRCh37 Chromosome 11, 1862753: 1862753
3 TNNI2 NM_003282.3(TNNI2): c.466C> T (p.Arg156Ter) single nucleotide variant Pathogenic rs104894312 GRCh37 Chromosome 11, 1862698: 1862698
4 TNNI2 NM_003282.3(TNNI2): c.499_501delGAG (p.Glu167del) deletion Pathogenic rs199474800 GRCh37 Chromosome 11, 1862731: 1862733
5 TPM2 NM_003289.3(TPM2): c.397C> T (p.Arg133Trp) single nucleotide variant Pathogenic rs137853305 GRCh37 Chromosome 9, 35685526: 35685526
6 MYH3 NM_002470.3(MYH3): c.2015G> A (p.Arg672His) single nucleotide variant Pathogenic rs121913617 GRCh37 Chromosome 17, 10544634: 10544634
7 MYH3 NM_002470.3(MYH3): c.2014C> T (p.Arg672Cys) single nucleotide variant Pathogenic rs121913618 GRCh37 Chromosome 17, 10544635: 10544635
8 MYH3 NM_002470.3(MYH3): c.533C> T (p.Thr178Ile) single nucleotide variant Pathogenic rs121913619 GRCh37 Chromosome 17, 10553691: 10553691
9 MYH3 NM_002470.3(MYH3): c.2474T> A (p.Val825Asp) single nucleotide variant Pathogenic rs121913620 GRCh37 Chromosome 17, 10543521: 10543521
10 MYH3 NM_002470.3(MYH3): c.2590_2592delCTC (p.Leu864del) deletion Pathogenic rs879255230 GRCh37 Chromosome 17, 10543403: 10543405
11 MYH3 NM_002470.3(MYH3): c.1123G> A (p.Glu375Lys) single nucleotide variant Pathogenic rs121913621 GRCh37 Chromosome 17, 10549042: 10549042
12 MYH3 NM_002470.3(MYH3): c.1385A> G (p.Asp462Gly) single nucleotide variant Pathogenic rs121913622 GRCh37 Chromosome 17, 10547693: 10547693
13 MYH3 NM_002470.3(MYH3): c.700G> A (p.Ala234Thr) single nucleotide variant Pathogenic/Likely pathogenic rs121913623 GRCh37 Chromosome 17, 10551909: 10551909
14 PIEZO2 NM_022068.3(PIEZO2): c.2404A> T (p.Ile802Phe) single nucleotide variant Pathogenic rs587777076 GRCh37 Chromosome 18, 10784870: 10784870
15 PIEZO2 NM_022068.3(PIEZO2): c.8057G> A (p.Arg2686His) single nucleotide variant Pathogenic rs587777450 GRCh38 Chromosome 18, 10671729: 10671729
16 PIEZO2 NM_022068.3(PIEZO2): c.8153G> T (p.Arg2718Leu) single nucleotide variant Pathogenic rs587777452 GRCh38 Chromosome 18, 10671633: 10671633
17 PIEZO2 NM_022068.3(PIEZO2): c.8153G> C (p.Arg2718Pro) single nucleotide variant Pathogenic rs587777452 GRCh38 Chromosome 18, 10671633: 10671633
18 PIEZO2 NM_022068.3(PIEZO2): c.2134A> G (p.Met712Val) single nucleotide variant Pathogenic rs587777453 GRCh38 Chromosome 18, 10789114: 10789114
19 PIEZO2 NM_022068.3(PIEZO2): c.8215T> C (p.Ser2739Pro) single nucleotide variant Pathogenic rs587777454 GRCh38 Chromosome 18, 10671571: 10671571
20 TNNI2 NM_003282.3(TNNI2): c.525G> T (p.Lys175Asn) single nucleotide variant Likely pathogenic rs797046046 GRCh38 Chromosome 11, 1841527: 1841527
21 PIEZO2 NM_022068.3(PIEZO2): c.8208delA (p.Tyr2737Ilefs) deletion Pathogenic rs878853135 GRCh38 Chromosome 18, 10671578: 10671578
22 PIEZO2 NM_022068.3(PIEZO2): c.8181_8183delAGA (p.Glu2727del) deletion Pathogenic rs587777077 GRCh37 Chromosome 18, 10671600: 10671602
23 PIEZO2 NM_022068.3(PIEZO2): c.7067C> T (p.Thr2356Met) single nucleotide variant Pathogenic rs878853137 GRCh37 Chromosome 18, 10689744: 10689744
24 PIEZO2 NM_022068.3(PIEZO2): c.6668C> T (p.Ser2223Leu) single nucleotide variant Pathogenic rs878853138 GRCh37 Chromosome 18, 10696255: 10696255
25 PIEZO2 NM_022068.3(PIEZO2): c.6662C> T (p.Thr2221Ile) single nucleotide variant Pathogenic rs878853139 GRCh37 Chromosome 18, 10696261: 10696261
26 PIEZO2 NM_022068.3(PIEZO2): c.2993T> C (p.Met998Thr) single nucleotide variant Pathogenic rs878853140 GRCh38 Chromosome 18, 10762977: 10762977
27 MYH3 NM_002470.3(MYH3): c.850T> G (p.Tyr284Asp) single nucleotide variant Likely pathogenic rs886042111 GRCh37 Chromosome 17, 10550547: 10550547

Expression for Arthrogryposis, Distal, Type 5

Search GEO for disease gene expression data for Arthrogryposis, Distal, Type 5.

Pathways for Arthrogryposis, Distal, Type 5

GO Terms for Arthrogryposis, Distal, Type 5

Cellular components related to Arthrogryposis, Distal, Type 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 troponin complex GO:0005861 8.62 TNNI2 TNNT3

Biological processes related to Arthrogryposis, Distal, Type 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cation transmembrane transport GO:0098655 9.32 NALCN PIEZO2
2 regulation of muscle contraction GO:0006937 9.26 TNNI2 TNNT3
3 regulation of ATPase activity GO:0043462 9.16 TNNT3 TPM2
4 skeletal muscle contraction GO:0003009 9.13 MYH3 TNNI2 TNNT3
5 muscle filament sliding GO:0030049 8.92 MYH3 TNNI2 TNNT3 TPM2

Molecular functions related to Arthrogryposis, Distal, Type 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 actin filament binding GO:0051015 9.16 MYH3 TPM2
2 cation channel activity GO:0005261 8.96 NALCN PIEZO2
3 actin binding GO:0003779 8.92 MYH3 TNNI2 TNNT3 TPM2

Sources for Arthrogryposis, Distal, Type 5

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16 ExPASy
18 FMA
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33 ICD10 via Orphanet
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42 MESH via Orphanet
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70 UMLS via Orphanet
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