MCID: ART116
MIFTS: 41

Arthropathy, Progressive Pseudorheumatoid, of Childhood

Categories: Genetic diseases, Rare diseases, Bone diseases

Aliases & Classifications for Arthropathy, Progressive Pseudorheumatoid, of Childhood

MalaCards integrated aliases for Arthropathy, Progressive Pseudorheumatoid, of Childhood:

Name: Arthropathy, Progressive Pseudorheumatoid, of Childhood 57 53 13
Progressive Pseudorheumatoid Dysplasia 57 24 53 25 37 29 55 6
Progressive Pseudorheumatoid Arthropathy of Childhood 57 12 24 53 25 75 15
Spondyloepiphyseal Dysplasia Tarda with Progressive Arthropathy 57 24 53 25
Sedt-Pa 57 24 53
Ppac 57 53 75
Spondyloepiphyseal Dysplasia Tarda-Progressive Arthropathy Syndrome 12 53
Progressive Pseudorheumatoid Chondrodysplasia 24 53
Ppd 57 53
Spondyloepiphyseal Dysplasia Tarda with Progressive Arthropathy; Sedt-Pa 57
Spondyloepiphyseal Dysplasia Tarda - Progressive Arthropathy 53
Progressive Pseudorheumatoid Dysplasia; Ppd 57

Characteristics:

OMIM:

57
Miscellaneous:
waddling gait
walking difficulties
onset of disease 3-8 years

Inheritance:
autosomal recessive


HPO:

32
arthropathy, progressive pseudorheumatoid, of childhood:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Arthropathy, Progressive Pseudorheumatoid, of Childhood

NIH Rare Diseases : 53 Progressive pseudorheumatoid disyplasia (PPD) is a disorder of bone and cartilage that affects many joints. It manifests between the age of 3 and 6 years with joint pain and progressive joint stiffness. Major signs and symptoms include stiff joints (contractures), short stature, and widening of the ends of the finger and toe bones as well as other tubular bones. Bony widening at the fingers' joints progresses leading to permanent bending of the fingers (camptodactyly). Spine involvement results in short trunk and hunching of the back (kyphosis). It may initially be mistaken for juvenile rheumatoid arthritis, however people with this condition do not have the laboratory test results of juvenile rheumatoid arthritis. PPD is caused by a mutation in the WISP3 gene and is inherited in an autosomal recessive pattern. There is still no cure. Treatment may include pain medication and hip and knee joint replacement surgery at an early age.   

MalaCards based summary : Arthropathy, Progressive Pseudorheumatoid, of Childhood, also known as progressive pseudorheumatoid dysplasia, is related to postpartum depression and czech dysplasia. An important gene associated with Arthropathy, Progressive Pseudorheumatoid, of Childhood is WISP3 (WNT1 Inducible Signaling Pathway Protein 3), and among its related pathways/superpathways are Adhesion and amb2 Integrin signaling. Affiliated tissues include bone and testes, and related phenotypes are platyspondyly and osteoporosis

UniProtKB/Swiss-Prot : 75 Progressive pseudorheumatoid arthropathy of childhood: Autosomal recessive disorder characterized by stiffness and swelling of joints, motor weakness and joint contractures. Signs and symptoms of the disease develop typically between three and eight years of age. This progressive disease is a primary disorder of articular cartilage with continued cartilage loss and destructive bone changes with aging.

Genetics Home Reference : 25 Progressive pseudorheumatoid dysplasia (PPRD) is a joint disease that worsens over time. This condition is characterized by breakdown (degeneration) of the cartilage between bones (articular cartilage). This cartilage covers and protects the ends of bones, and its degeneration leads to pain and stiffness in the joints and other features of PPRD.

Disease Ontology : 12 A osteochondrodysplasia characterized by autosomal recessive inheritance with typical onset around 3 years of age, progressive severe degenerative joint disease, platyspondyly, epiphyseal enlargement but absence of inflammatory joint disease that has material basis in homozygous or compound heterozygous mutation in the CHST3 gene on chromosome 10q22.

Description from OMIM: 208230
GeneReviews: NBK327267

Related Diseases for Arthropathy, Progressive Pseudorheumatoid, of Childhood

Diseases related to Arthropathy, Progressive Pseudorheumatoid, of Childhood via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 32)
# Related Disease Score Top Affiliating Genes
1 postpartum depression 11.4
2 czech dysplasia 11.2
3 paranoid personality disorder 10.9
4 spondyloepiphyseal dysplasia with congenital joint dislocations 10.4
5 scoliosis 10.1
6 pleurisy 10.1
7 pulmonary tuberculosis 10.1
8 lepromatous leprosy 9.9
9 rheumatoid arthritis 9.9
10 arthritis 9.9
11 arthropathy 9.9
12 juvenile rheumatoid arthritis 9.9
13 lung cancer 9.8
14 cat-scratch disease 9.8
15 tetanus 9.8
16 uveitis 9.8
17 anterior uveitis 9.8
18 schizophrenia 9.7
19 small cell cancer of the lung 9.7
20 tibia, hypoplasia or aplasia of, with polydactyly 9.7
21 polydactyly 9.7
22 erythema multiforme 9.7
23 mumps 9.7
24 glanders 9.7
25 kwashiorkor 9.7
26 dermatitis 9.7
27 contact dermatitis 9.7
28 allergic contact dermatitis 9.7
29 measles 9.7
30 rubella 9.7
31 depression 9.7
32 wilms tumor 5 8.7 CTGF CYR61 WISP3

Graphical network of the top 20 diseases related to Arthropathy, Progressive Pseudorheumatoid, of Childhood:



Diseases related to Arthropathy, Progressive Pseudorheumatoid, of Childhood

Symptoms & Phenotypes for Arthropathy, Progressive Pseudorheumatoid, of Childhood

Symptoms via clinical synopsis from OMIM:

57
Skeletal:
osteoarthritis
joint stiffness
joint swelling

Skeletal Limbs:
genu varum
large joint contractures
flattened, enlarged epiphyses

Skeletal Hands:
enlarged interphalangeal joints
enlarged metacarpophalangeal joints
flexion deformities of fingers
narrowed joint spaces
wide metaphyses (metacarpals and phalanges)
more
Muscle Soft Tissue:
easily fatigued
muscular weakness

Skeletal Spine:
platyspondyly
kyphoscoliosis
decreased cervical spine mobility
anterior end-plate erosions

Skeletal Pelvis:
coxa vara
enlarged capital femoral epiphyses
periarticular osteoporosis
joint space narrowing
acetabular irregularity

Skeletal Feet:
wide metaphyses (metatarsals and phalanges)
enlarged epiphyses (metatarsals and phalanges)

Laboratory Abnormalities:
normal sedimentation rate
negative rheumatoid factor


Clinical features from OMIM:

208230

Human phenotypes related to Arthropathy, Progressive Pseudorheumatoid, of Childhood:

32 (show all 28)
# Description HPO Frequency HPO Source Accession
1 platyspondyly 32 HP:0000926
2 osteoporosis 32 HP:0000939
3 muscle weakness 32 HP:0001324
4 joint swelling 32 HP:0001386
5 joint stiffness 32 hallmark (90%) HP:0001387
6 abnormality of the foot 32 HP:0001760
7 difficulty walking 32 HP:0002355
8 waddling gait 32 HP:0002515
9 kyphoscoliosis 32 HP:0002751
10 osteoarthritis 32 frequent (33%) HP:0002758
11 coxa vara 32 HP:0002812
12 genu varum 32 HP:0002970
13 metaphyseal widening 32 HP:0003016
14 arthropathy 32 HP:0003040
15 flattened epiphysis 32 frequent (33%) HP:0003071
16 enlargement of the proximal femoral epiphysis 32 HP:0003371
17 sclerotic vertebral endplates 32 frequent (33%) HP:0004576
18 decreased cervical spine mobility 32 HP:0004637
19 enlarged metacarpophalangeal joints 32 HP:0006163
20 enlarged interphalangeal joints 32 frequent (33%) HP:0006247
21 enlarged epiphyses 32 HP:0010580
22 camptodactyly of finger 32 HP:0100490
23 gait disturbance 32 hallmark (90%) HP:0001288
24 scoliosis 32 frequent (33%) HP:0002650
25 kyphosis 32 frequent (33%) HP:0002808
26 abnormality of the knee 32 frequent (33%) HP:0002815
27 methylmalonic acidemia 32 hallmark (90%) HP:0002912
28 short stature 32 hallmark (90%) HP:0004322

Drugs & Therapeutics for Arthropathy, Progressive Pseudorheumatoid, of Childhood

Search Clinical Trials , NIH Clinical Center for Arthropathy, Progressive Pseudorheumatoid, of Childhood

Genetic Tests for Arthropathy, Progressive Pseudorheumatoid, of Childhood

Genetic tests related to Arthropathy, Progressive Pseudorheumatoid, of Childhood:

# Genetic test Affiliating Genes
1 Progressive Pseudorheumatoid Dysplasia 29 WISP3

Anatomical Context for Arthropathy, Progressive Pseudorheumatoid, of Childhood

MalaCards organs/tissues related to Arthropathy, Progressive Pseudorheumatoid, of Childhood:

41
Bone, Testes

Publications for Arthropathy, Progressive Pseudorheumatoid, of Childhood

Articles related to Arthropathy, Progressive Pseudorheumatoid, of Childhood:

(show all 19)
# Title Authors Year
1
Early severe scoliosis in a patient with atypical progressive pseudorheumatoid dysplasia (PPD): Identification of two WISP3 mutations, one previously unreported. ( 26991965 )
2016
2
A novel compound WISP3 mutation in a Chinese family with progressive pseudorheumatoid dysplasia. ( 25794430 )
2015
3
Identification of a mutation in the WISP3 gene in three unrelated families with progressive pseudorheumatoid dysplasia. ( 25738435 )
2015
4
Novel COL2A1 variant (c.619G>A, p.Gly207Arg) manifesting as a phenotype similar to progressive pseudorheumatoid dysplasia and spondyloepiphyseal dysplasia, Stanescu type. ( 26183434 )
2015
5
Novel and recurrent mutations of WISP3 in two Chinese families with progressive pseudorheumatoid dysplasia. ( 22685593 )
2012
6
Analysis of the WISP3 gene in Indian families with progressive pseudorheumatoid dysplasia. ( 22987568 )
2012
7
Patients with progressive pseudorheumatoid dysplasia: from clinical diagnosis to molecular studies. ( 21993478 )
2012
8
The diagnostic challenge of progressive pseudorheumatoid dysplasia (PPRD): a review of clinical features, radiographic features, and WISP3 mutations in 63 affected individuals. ( 22791401 )
2012
9
[Clinical diagnosis and WISP3 gene mutation analysis for progressive pseudorheumatoid dysplasia]. ( 20426955 )
2010
10
Identification of novel mutations in WISP3 gene in two unrelated Chinese families with progressive pseudorheumatoid dysplasia. ( 19064006 )
2009
11
The CCN family member Wisp3, mutant in progressive pseudorheumatoid dysplasia, modulates BMP and Wnt signaling. ( 17823661 )
2007
12
Cellular and molecular responses in progressive pseudorheumatoid dysplasia articular cartilage associated with compound heterozygous WISP3 gene mutation. ( 17483925 )
2007
13
WISP3, the gene responsible for the human skeletal disease progressive pseudorheumatoid dysplasia, is not essential for skeletal function in mice. ( 15601861 )
2005
14
Molecular study of WISP3 in nine families originating from the Middle-East and presenting with progressive pseudorheumatoid dysplasia: identification of two novel mutations, and description of a founder effect. ( 16152649 )
2005
15
Dominantly inherited progressive pseudorheumatoid dysplasia with hypoplastic toes. ( 14730409 )
2004
16
Clinical, radiographic, and genetic diagnosis of progressive pseudorheumatoid dysplasia in a patient with severe polyarthropathy. ( 12819927 )
2004
17
Mutations in the CCN gene family member WISP3 cause progressive pseudorheumatoid dysplasia. ( 10471507 )
1999
18
Assignment of gene responsible for progressive pseudorheumatoid dysplasia to chromosome 6 and examination of COL10A1 as candidate gene. ( 9781029 )
1998
19
Progressive Pseudorheumatoid Dysplasia ( 26610319 )
1993

Variations for Arthropathy, Progressive Pseudorheumatoid, of Childhood

UniProtKB/Swiss-Prot genetic disease variations for Arthropathy, Progressive Pseudorheumatoid, of Childhood:

75
# Symbol AA change Variation ID SNP ID
1 WISP3 p.Cys78Arg VAR_016225 rs121908902

ClinVar genetic disease variations for Arthropathy, Progressive Pseudorheumatoid, of Childhood:

6
(show top 50) (show all 52)
# Gene Variation Type Significance SNP ID Assembly Location
1 WISP3 NM_003880.3(WISP3): c.434G> A (p.Cys145Tyr) single nucleotide variant Pathogenic rs121908899 GRCh37 Chromosome 6, 112386045: 112386045
2 WISP3 NM_003880.3(WISP3): c.434G> A (p.Cys145Tyr) single nucleotide variant Pathogenic rs121908899 GRCh38 Chromosome 6, 112064842: 112064842
3 WISP3 NM_003880.3(WISP3): c.993G> A (p.Trp331Ter) single nucleotide variant Pathogenic rs121908900 GRCh37 Chromosome 6, 112390751: 112390751
4 WISP3 NM_003880.3(WISP3): c.993G> A (p.Trp331Ter) single nucleotide variant Pathogenic rs121908900 GRCh38 Chromosome 6, 112069548: 112069548
5 WISP3 NM_198239.1(WISP3): c.210C> A (p.Cys70Ter) single nucleotide variant Pathogenic rs121908901 GRCh37 Chromosome 6, 112382301: 112382301
6 WISP3 NM_198239.1(WISP3): c.210C> A (p.Cys70Ter) single nucleotide variant Pathogenic rs121908901 GRCh38 Chromosome 6, 112061098: 112061098
7 WISP3 NM_003880.3(WISP3): c.232T> C (p.Cys78Arg) single nucleotide variant Pathogenic rs121908902 GRCh37 Chromosome 6, 112382377: 112382377
8 WISP3 NM_003880.3(WISP3): c.232T> C (p.Cys78Arg) single nucleotide variant Pathogenic rs121908902 GRCh38 Chromosome 6, 112061174: 112061174
9 WISP3 NM_003880.3(WISP3): c.246delA (p.Glu84Lysfs) deletion Pathogenic rs797044438 GRCh37 Chromosome 6, 112382391: 112382391
10 WISP3 NM_003880.3(WISP3): c.246delA (p.Glu84Lysfs) deletion Pathogenic rs797044438 GRCh38 Chromosome 6, 112061188: 112061188
11 WISP3 NM_003880.3(WISP3): c.48+2dupT duplication Pathogenic rs797044439 GRCh37 Chromosome 6, 112375610: 112375610
12 WISP3 NM_003880.3(WISP3): c.48+2dupT duplication Pathogenic rs797044439 GRCh38 Chromosome 6, 112054407: 112054407
13 WISP3 NM_003880.3(WISP3): c.862_863dupAC (p.Gln289Leufs) duplication Pathogenic rs863223286 GRCh37 Chromosome 6, 112390620: 112390621
14 WISP3 NM_003880.3(WISP3): c.862_863dupAC (p.Gln289Leufs) duplication Pathogenic rs863223286 GRCh38 Chromosome 6, 112069417: 112069418
15 WISP3 WISP3, 2-BP DEL, 43GC deletion Pathogenic
16 WISP3 WISP3, 2-BP DEL, 866AG deletion Pathogenic
17 WISP3 NM_003880.3(WISP3): c.1000T> C (p.Ser334Pro) single nucleotide variant Pathogenic rs121908903 GRCh37 Chromosome 6, 112390758: 112390758
18 WISP3 NM_003880.3(WISP3): c.1000T> C (p.Ser334Pro) single nucleotide variant Pathogenic rs121908903 GRCh38 Chromosome 6, 112069555: 112069555
19 WISP3 NM_003880.3(WISP3): c.840delT (p.Phe280Leufs) deletion Pathogenic rs797044440 GRCh37 Chromosome 6, 112390598: 112390598
20 WISP3 NM_003880.3(WISP3): c.840delT (p.Phe280Leufs) deletion Pathogenic rs797044440 GRCh38 Chromosome 6, 112069395: 112069395
21 WISP3 NM_198239.1(WISP3): c.794_795delGT (p.Cys265Leufs) deletion Likely pathogenic rs727503755 GRCh37 Chromosome 6, 112389558: 112389559
22 WISP3 NM_198239.1(WISP3): c.794_795delGT (p.Cys265Leufs) deletion Likely pathogenic rs727503755 GRCh38 Chromosome 6, 112068355: 112068356
23 WISP3 NM_198239.1(WISP3): c.643+1G> A single nucleotide variant Pathogenic rs879255273 GRCh37 Chromosome 6, 112386201: 112386201
24 WISP3 NM_198239.1(WISP3): c.643+1G> A single nucleotide variant Pathogenic rs879255273 GRCh38 Chromosome 6, 112064998: 112064998
25 WISP3 NM_003880.3(WISP3): c.-81A> G single nucleotide variant Benign rs3806964 GRCh37 Chromosome 6, 112375307: 112375307
26 WISP3 NM_003880.3(WISP3): c.-81A> G single nucleotide variant Benign rs3806964 GRCh38 Chromosome 6, 112054104: 112054104
27 WISP3 NM_003880.3(WISP3): c.72T> C (p.Thr24=) single nucleotide variant Likely benign rs1230346 GRCh37 Chromosome 6, 112382217: 112382217
28 WISP3 NM_003880.3(WISP3): c.72T> C (p.Thr24=) single nucleotide variant Likely benign rs1230346 GRCh38 Chromosome 6, 112061014: 112061014
29 WISP3 NM_003880.3(WISP3): c.91C> A (p.Pro31Thr) single nucleotide variant Uncertain significance rs145590972 GRCh38 Chromosome 6, 112061033: 112061033
30 WISP3 NM_003880.3(WISP3): c.91C> A (p.Pro31Thr) single nucleotide variant Uncertain significance rs145590972 GRCh37 Chromosome 6, 112382236: 112382236
31 WISP3 NM_003880.3(WISP3): c.183C> T (p.Cys61=) single nucleotide variant Uncertain significance rs886060987 GRCh37 Chromosome 6, 112382328: 112382328
32 WISP3 NM_003880.3(WISP3): c.183C> T (p.Cys61=) single nucleotide variant Uncertain significance rs886060987 GRCh38 Chromosome 6, 112061125: 112061125
33 WISP3 NM_003880.3(WISP3): c.77C> T (p.Pro26Leu) single nucleotide variant Uncertain significance rs149609367 GRCh37 Chromosome 6, 112382222: 112382222
34 WISP3 NM_003880.3(WISP3): c.77C> T (p.Pro26Leu) single nucleotide variant Uncertain significance rs149609367 GRCh38 Chromosome 6, 112061019: 112061019
35 WISP3 NM_003880.3(WISP3): c.168G> T (p.Gln56His) single nucleotide variant Benign rs1230345 GRCh37 Chromosome 6, 112382313: 112382313
36 WISP3 NM_003880.3(WISP3): c.168G> T (p.Gln56His) single nucleotide variant Benign rs1230345 GRCh38 Chromosome 6, 112061110: 112061110
37 WISP3 NM_003880.3(WISP3): c.237C> T (p.Ala79=) single nucleotide variant Likely benign rs112665393 GRCh37 Chromosome 6, 112382382: 112382382
38 WISP3 NM_003880.3(WISP3): c.237C> T (p.Ala79=) single nucleotide variant Likely benign rs112665393 GRCh38 Chromosome 6, 112061179: 112061179
39 WISP3 NM_003880.3(WISP3): c.807A> G (p.Gln269=) single nucleotide variant Likely benign rs17219737 GRCh38 Chromosome 6, 112069362: 112069362
40 WISP3 NM_003880.3(WISP3): c.807A> G (p.Gln269=) single nucleotide variant Likely benign rs17219737 GRCh37 Chromosome 6, 112390565: 112390565
41 WISP3 NM_003880.3(WISP3): c.892A> C (p.Ile298Leu) single nucleotide variant Uncertain significance rs34686812 GRCh37 Chromosome 6, 112390650: 112390650
42 WISP3 NM_003880.3(WISP3): c.892A> C (p.Ile298Leu) single nucleotide variant Uncertain significance rs34686812 GRCh38 Chromosome 6, 112069447: 112069447
43 WISP3 NM_003880.3(WISP3): c.48+13C> T single nucleotide variant Uncertain significance rs375836805 GRCh37 Chromosome 6, 112375621: 112375621
44 WISP3 NM_003880.3(WISP3): c.48+13C> T single nucleotide variant Uncertain significance rs375836805 GRCh38 Chromosome 6, 112054418: 112054418
45 WISP3 NM_003880.3(WISP3): c.78A> T (p.Pro26=) single nucleotide variant Likely benign rs9487806 GRCh37 Chromosome 6, 112382223: 112382223
46 WISP3 NM_003880.3(WISP3): c.78A> T (p.Pro26=) single nucleotide variant Likely benign rs9487806 GRCh38 Chromosome 6, 112061020: 112061020
47 WISP3 NM_003880.3(WISP3): c.178C> T (p.Arg60Cys) single nucleotide variant Likely benign rs17073260 GRCh37 Chromosome 6, 112382323: 112382323
48 WISP3 NM_003880.3(WISP3): c.178C> T (p.Arg60Cys) single nucleotide variant Likely benign rs17073260 GRCh38 Chromosome 6, 112061120: 112061120
49 WISP3 NM_003880.3(WISP3): c.327C> T (p.Tyr109=) single nucleotide variant Uncertain significance rs145747429 GRCh37 Chromosome 6, 112382472: 112382472
50 WISP3 NM_003880.3(WISP3): c.327C> T (p.Tyr109=) single nucleotide variant Uncertain significance rs145747429 GRCh38 Chromosome 6, 112061269: 112061269

Expression for Arthropathy, Progressive Pseudorheumatoid, of Childhood

Search GEO for disease gene expression data for Arthropathy, Progressive Pseudorheumatoid, of Childhood.

Pathways for Arthropathy, Progressive Pseudorheumatoid, of Childhood

Pathways related to Arthropathy, Progressive Pseudorheumatoid, of Childhood according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.05 CTGF CYR61
2 10.3 CTGF CYR61

GO Terms for Arthropathy, Progressive Pseudorheumatoid, of Childhood

Cellular components related to Arthropathy, Progressive Pseudorheumatoid, of Childhood according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.26 CTGF CYR61 IGFBP3 WISP3
2 extracellular space GO:0005615 8.92 CTGF CYR61 IGFBP3 WISP3

Biological processes related to Arthropathy, Progressive Pseudorheumatoid, of Childhood according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 9.58 CTGF CYR61 WISP3
2 cellular protein metabolic process GO:0044267 9.48 CYR61 IGFBP3
3 positive regulation of protein phosphorylation GO:0001934 9.46 CTGF CYR61
4 osteoblast differentiation GO:0001649 9.43 CYR61 IGFBP3
5 cell-cell signaling GO:0007267 9.43 CTGF CYR61 WISP3
6 positive regulation of cysteine-type endopeptidase activity involved in apoptotic process GO:0043280 9.37 CTGF CYR61
7 positive regulation of cell differentiation GO:0045597 9.32 CTGF CYR61
8 reactive oxygen species metabolic process GO:0072593 9.16 CTGF CYR61
9 negative regulation of cell death GO:0060548 9.13 CTGF CYR61 WISP3
10 regulation of cell growth GO:0001558 8.92 CTGF CYR61 IGFBP3 WISP3

Molecular functions related to Arthropathy, Progressive Pseudorheumatoid, of Childhood according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 growth factor activity GO:0008083 9.37 CTGF WISP3
2 heparin binding GO:0008201 9.33 CTGF CYR61 WISP3
3 growth factor binding GO:0019838 9.32 CYR61 IGFBP3
4 fibronectin binding GO:0001968 9.26 CTGF IGFBP3
5 integrin binding GO:0005178 9.13 CTGF CYR61 WISP3
6 insulin-like growth factor binding GO:0005520 8.92 CTGF CYR61 IGFBP3 WISP3

Sources for Arthropathy, Progressive Pseudorheumatoid, of Childhood

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