MCID: OST164
MIFTS: 56

Osteoporosis, Juvenile

Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Osteoporosis, Juvenile

MalaCards integrated aliases for Osteoporosis, Juvenile:

Name: Osteoporosis, Juvenile 58 54
Idiopathic Juvenile Osteoporosis 58 12 77 54 60 30 56 15
Juvenile Osteoporosis 12 54 60 74
Idiopathic Osteoporosis 12 56 74
Ijo 58 54 60
Idiopathic Juvenile Osteoporosis; Ijo 58

Characteristics:

Orphanet epidemiological data:

60
idiopathic juvenile osteoporosis
Inheritance: Multigenic/multifactorial,Not applicable; Age of onset: Childhood;

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
osteoporosis, juvenile:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:12559
OMIM 58 259750
ICD9CM 36 733.02
SNOMED-CT 69 3345002
ICD10 34 M80.5 M81.5
ICD10 via Orphanet 35 M81.5
UMLS via Orphanet 75 C0264080
Orphanet 60 ORPHA85193
MedGen 43 C0264080

Summaries for Osteoporosis, Juvenile

NIH Rare Diseases : 54 Juvenile osteoporosis is a condition of bone demineralization characterized by pain in the back and extremities, multiple fractures, difficulty walking, and evidence of osteoporosis. Symptoms typically develop just before puberty. Osteoporosis is rare in children and adolescents. When it does occur, it is usually caused by an underlying medical disorder or by medications used to treat the disorder. This is called secondary osteoporosis. Sometimes, however, there is no identifiable cause of osteoporosis in a child. This is known as idiopathic osteoporosis. There is no established medical or surgical therapy for juvenile osteoporosis. In some cases, treatment is not necessary, as the condition resolves spontaneously. Early diagnosis may allow for preventive steps, including physical therapy, avoidance of weight-bearing activities, use of crutches and other supportive care. A well-balanced diet rich in calcium and vitamin D is also important. In severe, long-lasting cases, medications such as bisphosphonates may be used. In most cases, complete recovery of bone occurs. 

MalaCards based summary : Osteoporosis, Juvenile, also known as idiopathic juvenile osteoporosis, is related to insulin-like growth factor i and brittle bone disorder. An important gene associated with Osteoporosis, Juvenile is LRP5 (LDL Receptor Related Protein 5), and among its related pathways/superpathways are Signaling by Wnt and Pathways in cancer. The drugs Calcium and Vitamin D have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and testes, and related phenotypes are osteoporosis and recurrent fractures

Disease Ontology : 12 An osteoporosis with no known cause that is characterized by pain in the back and extremities, walking difficulties, multiple fractures, and radiological evidence of osteoporosis.

Wikipedia : 77 Juvenile osteoporosis is osteoporosis in children and adolescents. Osteoporosis is rare in children and... more...

Description from OMIM: 259750

Related Diseases for Osteoporosis, Juvenile

Diseases in the Osteoporosis family:

Osteoporosis, Juvenile Juvenile Primary Osteoporosis
Lrp5-Related Primary Osteoporosis

Diseases related to Osteoporosis, Juvenile via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 78)
# Related Disease Score Top Affiliating Genes
1 insulin-like growth factor i 30.1 BGLAP IGF1 IGFBP3
2 brittle bone disorder 29.8 BGLAP CD36 COL1A1
3 osteoporosis 27.6 BGLAP CALCA CD36 COL1A1 DKK1 GC
4 juvenile primary osteoporosis 11.4
5 bone mineral density quantitative trait locus 18 10.3
6 hypotrichosis simplex 10.3 LRP5 WNT3A
7 mass syndrome 10.2 LRP5 SOST
8 kummell's disease 10.2 DKK1 SOST
9 slipped capital femoral epiphysis 10.2 IGF1 IGFBP3
10 secondary adrenal insufficiency 10.2 IGF1 IGFBP3
11 pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities 10.2 IGF1 IGFBP3
12 camurati-engelmann disease 10.2 BGLAP LRP5
13 diffuse idiopathic skeletal hyperostosis 10.2 IGF1 IGFBP3
14 marasmus 10.2 IGF1 IGFBP3
15 nontoxic goiter 10.2 BGLAP CALCA
16 mammographic density 10.1 IGF1 IGFBP3
17 peroneal nerve paralysis 10.1 CALCA LRP5
18 osteogenesis imperfecta, type vi 10.1 COL1A1 SOST
19 hyperpituitarism 10.1 IGF1 IGFBP3
20 axial osteomalacia 10.1 BGLAP PTH
21 sclerosteosis 2 10.1 LRP5 SOST
22 extraskeletal chondroma 10.1 BGLAP PTH
23 isolated growth hormone deficiency, type ib 10.1 IGF1 IGFBP3
24 acid-labile subunit deficiency 10.1 IGF1 IGFBP3
25 carcinoid syndrome 10.1 CALCA IGF1
26 exudative vitreoretinopathy 1 10.1 IGF1 IGFBP3 LRP5
27 fibrogenesis imperfecta ossium 10.1 CALCA PTH
28 osteopetrosis, autosomal dominant 2 10.1 BGLAP LRP5 SOST
29 fibrous dysplasia 10.1 BGLAP CALCA IGF1
30 col1a1/2-related osteogenesis imperfecta 10.1
31 van buchem disease 10.0 COL1A1 LRP5 SOST
32 bone mineral density quantitative trait locus 8 10.0
33 bone mineral density quantitative trait locus 15 10.0
34 sclerosteosis 10.0 COL1A1 LRP5 SOST
35 hypercalcemia, infantile, 1 10.0 CALCA PTH
36 nutritional deficiency disease 10.0 BGLAP IGF1 IGFBP3
37 turner syndrome 10.0 BGLAP IGF1 IGFBP3
38 ehlers-danlos syndrome, classic type, 2 10.0 CD36 COL1A1
39 osteogenesis imperfecta, type vii 10.0 CD36 COL1A1
40 osteogenesis imperfecta, type v 10.0 CD36 COL1A1
41 fasting hypoglycemia 10.0 CD36 IGF1
42 scleroderma, familial progressive 9.9 CD36 COL1A1
43 reflex sympathetic dystrophy 9.9 CALCA CD36
44 fetal macrosomia 9.9 IGF1 IGFBP3
45 lymphoma 9.9
46 scoliosis 9.9
47 ehlers-danlos syndrome 9.9
48 hyperparathyroidism 9.9 BGLAP CALCA PTH
49 celiac disease 1 9.9
50 endocrine organ benign neoplasm 9.9 CALCA IGF1 PTH

Comorbidity relations with Osteoporosis, Juvenile via Phenotypic Disease Network (PDN):


Osteoporosis

Graphical network of the top 20 diseases related to Osteoporosis, Juvenile:



Diseases related to Osteoporosis, Juvenile

Symptoms & Phenotypes for Osteoporosis, Juvenile

Human phenotypes related to Osteoporosis, Juvenile:

60 33 (show all 7)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 osteoporosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000939
2 recurrent fractures 60 33 hallmark (90%) Very frequent (99-80%) HP:0002757
3 bone pain 60 33 hallmark (90%) Very frequent (99-80%) HP:0002653
4 gait disturbance 60 33 frequent (33%) Frequent (79-30%) HP:0001288
5 vertebral compression fractures 60 33 frequent (33%) Frequent (79-30%) HP:0002953
6 kyphosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002808
7 low serum calcitriol 33 HP:0012052

Symptoms via clinical synopsis from OMIM:

58
G U:
normal renal function

Skel:
osteoporosis developing in childhood or adolescence
low plasma calcitriol (1,25-dihydroxycholecalciferol)
normal serum calcifediol (25-hydroxycholecalciferol)

Eyes:
normal sclerae

Misc:
healing with sexual maturation

Clinical features from OMIM:

259750

GenomeRNAi Phenotypes related to Osteoporosis, Juvenile according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance GR00327-A 8.92 BGLAP CALCA CD36 GC

MGI Mouse Phenotypes related to Osteoporosis, Juvenile:

47 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.08 CD36 COL1A1 DKK1 IGF1 LRP5 PTH
2 growth/size/body region MP:0005378 10.06 CD36 COL1A1 DKK1 IGF1 IGFBP3 LRP5
3 endocrine/exocrine gland MP:0005379 10.03 CD36 COL1A1 GC IGF1 IGFBP3 LRP5
4 homeostasis/metabolism MP:0005376 10.02 CD36 COL1A1 DKK1 GC IGF1 IGFBP3
5 cardiovascular system MP:0005385 9.97 CD36 COL1A1 IGF1 LRP5 PTH WNT3A
6 craniofacial MP:0005382 9.93 COL1A1 DKK1 LRP5 PTH WNT1 WNT3A
7 limbs/digits/tail MP:0005371 9.92 COL1A1 DKK1 IGF1 IGFBP3 LRP5 PTH
8 muscle MP:0005369 9.73 CD36 COL1A1 IGF1 IGFBP3 WNT1 WNT3A
9 renal/urinary system MP:0005367 9.55 CD36 COL1A1 DKK1 IGF1 WNT3A
10 skeleton MP:0005390 9.36 CD36 COL1A1 DKK1 GC IGF1 IGFBP3
11 respiratory system MP:0005388 9.35 COL1A1 DKK1 IGF1 WNT1 WNT3A

Drugs & Therapeutics for Osteoporosis, Juvenile

Drugs for Osteoporosis, Juvenile (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 22)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Calcium Approved, Nutraceutical Phase 3,Phase 2 7440-70-2 271
2
Vitamin D Approved, Nutraceutical, Vet_approved Phase 3,Phase 2 1406-16-2
3
Ergocalciferol Approved, Nutraceutical Phase 3,Phase 2 50-14-6 5280793
4
Vitamin D3 Approved, Nutraceutical Phase 3,Phase 2 67-97-0 5280795 6221
5 Hormones Phase 3,Phase 2
6 Vitamins Phase 3,Phase 2
7 Bone Density Conservation Agents Phase 3,Phase 2
8 Calciferol Phase 3,Phase 2
9 Trace Elements Phase 3,Phase 2
10 Nutrients Phase 3,Phase 2
11 Calcium, Dietary Phase 3,Phase 2
12 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3
13 Hormone Antagonists Phase 3
14 Vitamin D2 Phase 3,Phase 2
15 Micronutrients Phase 3,Phase 2
16 Ergocalciferols Phase 3,Phase 2
17
Alendronate Approved Phase 2 66376-36-1, 121268-17-5 2088
18
Calcium Carbonate Approved, Investigational Phase 2 471-34-1
19 Calcium Supplement Phase 2
20 Diphosphonates Phase 2
21 glucocorticoids Phase 2
22
Pamidronate Approved Not Applicable 40391-99-9 4674

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Growth Hormone Therapy and Bone Quality in Pediatric Osteoporosis Unknown status NCT00757393 Phase 3 Vitamin D + Calcium + Exercise program + Humatrope
2 Phase II Study of Alendronate Sodium in Children With High-Turnover Idiopathic Juvenile Osteoporosis Completed NCT00010439 Phase 2 Alendronate
3 Safety and Efficacy of Alendronate (Fosamax) in Children With Osteoporosis Completed NCT00259857 Phase 2 Alendronate
4 Treatment of Childhood Osteoporosis With Alendronate (Fosamax) Completed NCT00001720 Phase 2 Alendronate
5 Alendronate in Juvenile Osteoporosis Completed NCT00920075 Alendronate (Fosamax)
6 The Influence of Bisphosphonates in the Oral Cavity in Children Completed NCT00402064
7 Prevention of Post Operative Bone Loss in Children Completed NCT00655681 Not Applicable pamidronate

Search NIH Clinical Center for Osteoporosis, Juvenile

Genetic Tests for Osteoporosis, Juvenile

Genetic tests related to Osteoporosis, Juvenile:

# Genetic test Affiliating Genes
1 Idiopathic Juvenile Osteoporosis 30

Anatomical Context for Osteoporosis, Juvenile

MalaCards organs/tissues related to Osteoporosis, Juvenile:

42
Bone, Skin, Testes, Kidney, Pituitary, Pineal

Publications for Osteoporosis, Juvenile

Articles related to Osteoporosis, Juvenile:

(show all 41)
# Title Authors Year
1
Evidence of altered matrix composition in iliac crest biopsies from patients with idiopathic juvenile osteoporosis. ( 26539896 )
2016
2
Radiographic and MR Imaging Findings of the Spine after Bisphosphonate Treatment, in a Child with Idiopathic Juvenile Osteoporosis. ( 25688321 )
2015
3
Idiopathic juvenile osteoporosis: A case report and review of the literature. ( 25768278 )
2015
4
Idiopathic Juvenile Osteoporosis: Clinical Experience from a Single Centre and Screening of LRP5 and LRP6 Genes. ( 25783012 )
2015
5
Idiopathic Juvenile Osteoporosis: A Case Report. ( 26436063 )
2015
6
Idiopathic juvenile osteoporosis: a cross-sectional single-centre experience with bone histomorphometry and quantitative computed tomography. ( 23418950 )
2013
7
Pamidronate treatment stimulates the onset of recovery phase reducing fracture rate and skeletal deformities in patients with idiopathic juvenile osteoporosis: comparison with untreated patients. ( 23549954 )
2013
8
Idiopathic juvenile osteoporosis--an analysis of the muscle-bone relationship. ( 16951909 )
2006
9
Idiopathic juvenile osteoporosis. ( 11973603 )
2002
10
The bone formation defect in idiopathic juvenile osteoporosis is surface-specific. ( 12110417 )
2002
11
Osteoporosis in children and adolescent girls: case report of idiopathic juvenile osteoporosis and review of the literature. ( 11496161 )
2001
12
Clinical evaluation of patients with idiopathic juvenile osteoporosis. ( 11497372 )
2001
13
Deficient bone formation in idiopathic juvenile osteoporosis: a histomorphometric study of cancellous iliac bone. ( 10804027 )
2000
14
Idiopathic juvenile osteoporosis. ( 10818429 )
2000
15
Just taller or more bone? The impact of growth hormone on osteogenesis imperfecta and idiopathic juvenile osteoporosis. ( 11086654 )
2000
16
Difficulty walking. A presentation of idiopathic juvenile osteoporosis. ( 9458225 )
1998
17
Collagen peptides in osteogenesis imperfecta, idiopathic juvenile osteoporosis and Ehlers--Danlos syndrome. ( 8816205 )
1996
18
Estrogen and diclofenac sodium therapy in a prepubertal female with idiopathic juvenile osteoporosis. ( 7584708 )
1995
19
Idiopathic juvenile osteoporosis: five-year case follow-up. ( 7613264 )
1995
20
Type I collagen biosynthesis by skin fibroblasts from patients with idiopathic juvenile osteoporosis. ( 7671570 )
1995
21
Idiopathic juvenile osteoporosis: experience of twenty-one patients. ( 7881843 )
1995
22
Fracture of the humerus in ball throwers. A consequence of idiopathic juvenile osteoporosis in a female handball player? ( 7882130 )
1995
23
Case report: effect of pregnancy on idiopathic juvenile osteoporosis. ( 7900745 )
1995
24
Idiopathic juvenile osteoporosis. An unusual cause of back pain in an adolescent. ( 8581446 )
1995
25
Idiopathic juvenile osteoporosis. ( 8434248 )
1993
26
Idiopathic juvenile osteoporosis: evidence of normal osteoblast function by 1,25-dihydroxyvitamin D3 stimulation test. ( 1393771 )
1992
27
Mineral metabolism and calcitriol therapy in idiopathic juvenile osteoporosis. ( 2012031 )
1991
28
Effect of calcitonin replacement therapy in idiopathic juvenile osteoporosis. ( 3177335 )
1988
29
Bone metabolism in idiopathic juvenile osteoporosis: a case report. ( 6839191 )
1983
30
Calcitriol deficiency in idiopathic juvenile osteoporosis. ( 6896958 )
1982
31
Idiopathic juvenile osteoporosis and scoliosis. ( 7130387 )
1982
32
Idiopathic juvenile osteoporosis. ( 6784514 )
1981
33
Spinal deformity in idiopathic juvenile osteoporosis. ( 7209670 )
1981
34
Idiopathic juvenile osteoporosis. ( 314235 )
1979
35
Idiopathic juvenile osteoporosis. ( 474538 )
1979
36
A case-report of idiopathic juvenile osteoporosis with particular reference to 47-calcium absorption. ( 891571 )
1977
37
Lymphoma presenting as "Idiopathic" juvenile osteoporosis. ( 1125676 )
1975
38
Idiopathic juvenile osteoporosis. ( 5459928 )
1970
39
Idiopathic juvenile osteoporosis: report of a case and review of the literature. ( 4908113 )
1969
40
Idiopathic juvenile osteoporosis. ( 5363391 )
1969
41
IDIOPATHIC JUVENILE OSTEOPOROSIS. ( 14319616 )
1965

Variations for Osteoporosis, Juvenile

Expression for Osteoporosis, Juvenile

Search GEO for disease gene expression data for Osteoporosis, Juvenile.

Pathways for Osteoporosis, Juvenile

Pathways related to Osteoporosis, Juvenile according to GeneCards Suite gene sharing:

(show all 32)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.68 DKK1 LRP5 SOST WNT1 WNT3A
2 12.67 IGF1 LRP5 WNT1 WNT3A
3
Show member pathways
12.6 IGF1 LRP5 WNT1 WNT3A
4
Show member pathways
12.32 IGF1 LRP5 WNT1 WNT3A
5 12.25 DKK1 LRP5 WNT1 WNT3A
6
Show member pathways
12.21 CALCA PTH WNT1 WNT3A
7
Show member pathways
12.21 DKK1 LRP5 SOST WNT1 WNT3A
8 12.13 IGF1 WNT1 WNT3A
9
Show member pathways
12.11 DKK1 LRP5 SOST WNT1 WNT3A
10 12.08 DKK1 LRP5 WNT3A
11 12.03 LRP5 WNT1 WNT3A
12
Show member pathways
12.01 IGF1 LRP5 WNT3A
13
Show member pathways
11.95 IGF1 WNT1 WNT3A
14 11.92 IGF1 WNT1 WNT3A
15 11.89 DKK1 IGF1 WNT3A
16
Show member pathways
11.81 DKK1 LRP5 WNT1 WNT3A
17 11.8 DKK1 LRP5 WNT1
18 11.79 COL1A1 IGF1 IGFBP3
19 11.73 BGLAP LRP5 PTH SOST
20 11.58 DKK1 LRP5 WNT1
21 11.48 DKK1 LRP5 WNT1
22 11.4 DKK1 IGF1 WNT3A
23 11.24 BGLAP COL1A1 PTH
24 11.24 DKK1 IGF1 WNT1 WNT3A
25
Show member pathways
11.14 LRP5 WNT3A
26 10.99 DKK1 LRP5 WNT1
27 10.93 IGF1 IGFBP3
28 10.9 DKK1 LRP5 WNT1 WNT3A
29 10.69 BGLAP COL1A1 PTH
30 10.67 BGLAP CALCA COL1A1 IGF1 PTH
31
Show member pathways
10.58 DKK1 LRP5 SOST WNT3A
32 10.57 GC PTH

GO Terms for Osteoporosis, Juvenile

Cellular components related to Osteoporosis, Juvenile according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.7 BGLAP CALCA COL1A1 DKK1 GC IGF1
2 Golgi lumen GO:0005796 9.61 BGLAP WNT1 WNT3A
3 endocytic vesicle membrane GO:0030666 9.58 CD36 WNT1 WNT3A
4 endoplasmic reticulum lumen GO:0005788 9.55 BGLAP COL1A1 IGFBP3 WNT1 WNT3A
5 extracellular space GO:0005615 9.4 BGLAP CALCA CD36 COL1A1 DKK1 GC
6 insulin-like growth factor ternary complex GO:0042567 9.37 IGF1 IGFBP3
7 Wnt-Frizzled-LRP5/6 complex GO:1990851 9.32 LRP5 WNT3A
8 insulin-like growth factor binding protein complex GO:0016942 9.26 IGF1 IGFBP3

Biological processes related to Osteoporosis, Juvenile according to GeneCards Suite gene sharing:

(show all 29)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 9.94 IGF1 LRP5 WNT1 WNT3A
2 positive regulation of gene expression GO:0010628 9.91 CD36 DKK1 IGF1 WNT3A
3 positive regulation of transcription, DNA-templated GO:0045893 9.85 COL1A1 IGF1 LRP5 SOST WNT1 WNT3A
4 positive regulation of MAPK cascade GO:0043410 9.76 CD36 IGF1 IGFBP3
5 ossification GO:0001503 9.72 BGLAP COL1A1 SOST
6 canonical Wnt signaling pathway GO:0060070 9.71 LRP5 WNT1 WNT3A
7 skeletal system development GO:0001501 9.71 BGLAP COL1A1 IGF1 PTH
8 response to mechanical stimulus GO:0009612 9.7 BGLAP COL1A1 SOST
9 response to nutrient levels GO:0031667 9.65 BGLAP COL1A1 PTH
10 positive regulation of glucose import GO:0046326 9.64 IGF1 PTH
11 cellular response to amyloid-beta GO:1904646 9.63 CD36 IGF1
12 face morphogenesis GO:0060325 9.63 COL1A1 DKK1
13 negative regulation of BMP signaling pathway GO:0030514 9.63 DKK1 SOST WNT1
14 regulation of synapse organization GO:0050807 9.62 DKK1 WNT3A
15 positive regulation of mitotic nuclear division GO:0045840 9.62 IGF1 LRP5
16 osteoblast differentiation GO:0001649 9.62 BGLAP COL1A1 IGFBP3 WNT3A
17 beta-catenin destruction complex disassembly GO:1904886 9.61 WNT1 WNT3A
18 response to vitamin D GO:0033280 9.6 BGLAP PTH
19 osteoblast development GO:0002076 9.59 BGLAP LRP5
20 negative regulation of cell-substrate adhesion GO:0010812 9.58 COL1A1 WNT1
21 positive regulation of glycogen biosynthetic process GO:0045725 9.57 IGF1 PTH
22 spinal cord association neuron differentiation GO:0021527 9.56 WNT1 WNT3A
23 Wnt signaling pathway GO:0016055 9.55 DKK1 LRP5 SOST WNT1 WNT3A
24 cell proliferation in midbrain GO:0033278 9.51 WNT1 WNT3A
25 Wnt signaling pathway involved in midbrain dopaminergic neuron differentiation GO:1904953 9.49 WNT1 WNT3A
26 positive regulation of dermatome development GO:0061184 9.43 WNT1 WNT3A
27 regulation of signaling receptor activity GO:0010469 9.43 CALCA DKK1 IGF1 PTH WNT1 WNT3A
28 negative regulation of ossification GO:0030279 9.26 DKK1 SOST
29 positive regulation of insulin-like growth factor receptor signaling pathway GO:0043568 8.8 IGF1 IGFBP3 WNT1

Molecular functions related to Osteoporosis, Juvenile according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hormone activity GO:0005179 9.33 CALCA IGF1 PTH
2 co-receptor binding GO:0039706 8.96 DKK1 WNT3A
3 receptor ligand activity GO:0048018 8.8 PTH WNT1 WNT3A

Sources for Osteoporosis, Juvenile

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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