MCID: FBR009
MIFTS: 54

Fibrous Dysplasia malady

Bone diseases category

Summaries for Fibrous Dysplasia

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8Disease Ontology, 42NIH Rare Diseases, 63Wikipedia, 32MalaCards
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NIH Rare Diseases:42 Fibrous dysplasia is a progressive bone disorder that is characterized by the replacement of normal bone with weaker tissues, such as fibrous tissue and woven bone.  it may involve one bone (monostotic) or multiple bones (polyostotic).  though many individuals with this condition do not have any symptoms, others may have bone pain, abnormally shaped bones, or an increased risk of breaking bones.  this condition can occur alone or as part of a genetic disorder, such as mccune-albright syndrome. last updated: 8/25/2011

MalaCards: Fibrous Dysplasia, also known as fibrous dysplasia of bone, is related to mccune albright syndrome and osteosarcoma. An important gene associated with Fibrous Dysplasia is GNAS (GNAS complex locus), and among its related pathways are Osteoblast Signaling and Endochondral Ossification. The compounds forskolin and ghrp have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and testes, and related mouse phenotypes are limbs/digits/tail and hearing/vestibular/ear.

Disease Ontology:8 A bone remodeling disease that results in the destruction of normal bone and replacing it with fibrous bone tissue.

Wikipedia:63 Fibrous dysplasia is an abnormal bone growth where normal bone is replaced with fibrous bone tissue.... more...

Aliases & Classifications for Fibrous Dysplasia

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8Disease Ontology, 42NIH Rare Diseases, 10DISEASES, 44Novoseek, 60UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Bone diseases


Aliases & Descriptions:

fibrous dysplasia 8 42 10 44 60
fibrous dysplasia of bone 42


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Disease Ontology8 DOID:0080031

Related Diseases for Fibrous Dysplasia

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17GeneCards, 18GeneDecks
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Diseases related to Fibrous Dysplasia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 210)
idRelated DiseaseScoreTop Affiliating Genes
1mccune albright syndrome31.3GNAS, APC, GH1, PRL
2osteosarcoma30.7BGLAP, IBSP, RUNX2, FOS, GHR, GHRH
3acromegaly30.5GH1, PRL
4sarcoma30.4ADCY10
5meningioma30.4SPARC
6hyperparathyroidism30.4BGLAP, FGF23, ALPPL2, ADCY10
7paget's disease of bone30.3ALPPL2
8primary hyperparathyroidism30.3BGLAP, IBSP, FGF23
9hepatitis30.1GHR
10hyperprolactinemia30.1GNAS, GHRH, GH1, PRL
11osteogenesis imperfecta30.1ALPPL2, SPARC, IBSP, BGLAP
12osteomalacia30.1ALPPL2, FGF23, GNAS, BGLAP
13goiter29.9BGLAP, GNAS
14osteofibrous dysplasia29.9BGLAP, GNAS, SPARC
15empty sella syndrome29.9GH1, PRL
16hypophosphatemia29.9ALPPL2, FGF23, BGLAP
17rickets29.9ALPPL2, FGF23, BGLAP
18prolactinoma29.9ADCY10, PRL, GH1, GNAS
19arthritis29.9BGLAP, FOS, ALPPL2
20bone carcinoma29.9BGLAP, IBSP, RUNX2, SPARC
21hypercalcemia29.9BGLAP, FGF23, ALPPL2, ADCY10
22breast cancer29.9APC, AREG, GHR, PRL
23prostate cancer29.9BGLAP, IBSP, FOS, GHR, GHRH
24rheumatoid arthritis29.9BGLAP, IBSP, RUNX2, FOS, AREG, SPARC
25leukemia29.9RUNX2, FOS, AREG, GHR, ALPPL2, ADCY10
26osteoporosis29.9BGLAP, IBSP, RUNX2, GHR, GH1, FGF23
27hyperthyroidism29.9BGLAP, GNAS, GHR, GHRH, GH1, PRL
28ossifying fibroma10.6
29cherubism10.5
30cervicitis10.5
31monostotic fibrous dysplasia10.4
32panostotic fibrous dysplasia10.3
33fibrous meningioma10.3
34bone osteosarcoma10.2
35giant cell reparative granuloma10.1
36cleft lip10.1
37cleft palate10.1
38thoracic outlet syndrome10.1
39cholesteatoma10.1
40chondrosarcoma10.1
41hodgkin's lymphoma10.1
42osteomyelitis10.1
43mccune–albright syndrome10.1
44mazabraud syndrome10.1
45multiple endocrine neoplasia10.0GNAS
46arthropathy10.0FGF23
47pancreatitis10.0ALPPL2
48amenorrhea10.0PRL
49carney complex10.0GNAS
50parkinson's disease10.0FOS

Graphical network of the top 20 diseases related to Fibrous Dysplasia:



Diseases related to fibrous dysplasia

Clinical Features for Fibrous Dysplasia

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Drugs & Therapeutics for Fibrous Dysplasia

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Fibrous Dysplasia

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Anatomical Context for Fibrous Dysplasia

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32MalaCards
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MalaCards organs/tissues related to Fibrous Dysplasia:

32
Bone, Bone marrow, Testes, Lung, Breast, Myeloid, Prostate

Animal Models for Fibrous Dysplasia or affiliated genes

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36MGI
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Publications for Fibrous Dysplasia

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50PubMed
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Articles related to Fibrous Dysplasia:

(show top 50)    (show all 650)
idTitleAuthorsYear
1
Reproductive outcomes in patients with male infertility because of Klinefelter's syndrome, Kartagener's syndrome, round-head sperm, dysplasia fibrous sheath, and 'stump' tail sperm: an updated literature review. (23587797)
2013
2
Fibrous dysplasia causing safeguarding concerns. (23966029)
2013
3
Fibrous dysplasia and fibroblast growth factor-23 regulation. (23532406)
2013
4
Ewing sarcoma of the tibia mimicking fibrous dysplasia. (22094991)
2013
5
Fibrous dysplasia of the zygomaticomaxillary region: outcomes of surgical intervention. (23714793)
2013
6
Craniofacial fibrous dysplasia. (23993753)
2013
7
Leber hereditary optic neuropathy in a boy with fibrous boney dysplasia. (24404670)
2013
8
GNAS mutational analysis in differentiating fibrous dysplasia and ossifying fibroma of the jaw. (23503642)
2013
9
Craniofacial fibrous dysplasia: Surgery and literature review. (23662263)
2013
10
Fibrous dysplasia in a 120,000+ year old Neandertal from Krapina, Croatia. (23755126)
2013
11
Expansion of the maxilla. Craniofacial fibrous dysplasia. (23233910)
2012
12
Craniofacial fibrous dysplasia (CFD) of the maxilla in an 11-year old boy: a case report. (22436487)
2012
13
GI+ proteins, the Wnt/I^-catenin pathway and fibrous dysplasia. (23951445)
2012
14
Rapidly enlarging orbital tumor in a facial fibrous dysplasia lesion. (21372666)
2012
15
Pamidronic acid and cabergoline as effective long-term therapy in a 12-year-old girl with extended facial polyostotic fibrous dysplasia, prolactinoma and acromegaly in McCune-Albright syndrome: a case report. (22273876)
2012
16
Fibrous dysplasia of the palate: report of a case and review of palatal swellings. (23024874)
2012
17
The surgical management of fibrous dysplasia of bone. (22640754)
2012
18
Genetics of bone diseases: Paget's disease, fibrous dysplasia, osteopetrosis, and osteogenesis imperfecta. (20855225)
2011
19
Monofocal maxillary fibrous dysplasia with orbital, nasal and oral obstruction. (19540186)
2010
20
Fibrous dysplasia in a Hong Kong community: the clinical and radiological features and outcomes of treatment. (19176647)
2009
21
Role of surgical management in temporal bone fibrous dysplasia. (19922084)
2009
22
Craniofacial fibrous dysplasia of orbit. (19098545)
2008
23
Advanced technology in the management of fibrous dysplasia. (18339597)
2008
24
Fibrous dysplasia of bone and McCune-Albright syndrome. (18328981)
2008
25
Prophylactic intramedullary nailing in monostotic fibrous dysplasia. (18686466)
2008
26
Fibrous dysplasia of the temporal bone presenting with facial nerve palsy and conductive hearing loss. (18349725)
2008
27
Monostotic fibrous dysplasia of the middle phalanx. (18098360)
2007
28
Bisphosphonate treatment of bone fibrous dysplasia in McCune-Albright syndrome. (16789621)
2006
29
A clinico-pathologic correlation: fibrous dysplasia. (16536164)
2006
30
Optic nerve decompression for orbitofrontal fibrous dysplasia: recent development of surgical technique and equipment. (17268587)
2006
31
Expression of FGF23 is correlated with serum phosphate level in isolated fibrous dysplasia. (16337659)
2006
32
Double calvarial fibrous dysplasia. (17114874)
2006
33
Vascularized fibula graft and osseointegrated teeth implantation after segmental mandibulectomy for fibrous dysplasia. (16217517)
2005
34
Physical function is impaired but quality of life preserved in patients with fibrous dysplasia of bone. (15963775)
2005
35
Pathologic hepatic Tc-99m-MDP uptake in polyostotic fibrous dysplasia. (15586638)
2004
36
Monostotic fibrous dysplasia originating from ethmoid bone: treatment with endoscopic approach. (14994770)
2004
37
Polyostotic fibrous dysplasia with auditory impairment and delayed menarche in a Nigerian. (15298467)
2003
38
Images in clinical medicine. A quarter-century of fibrous dysplasia. (12853600)
2003
39
Monostotic fibrous dysplasia of the temporal bone. (10748861)
1999
40
Etiology of fibrous dysplasia and McCune-Albright syndrome. (10535539)
1999
41
Polymerase chain reaction-based technique for the selective enrichment and analysis of mosaic arg201 mutations in G alpha s from patients with fibrous dysplasia of bone. (9267696)
1997
42
Fibrous dysplasia of bone in the McCune-Albright syndrome: abnormalities in bone formation. (9403710)
1997
43
Monostotic fibrous dysplasia of the temporal bone with associated lymphadenopathy. (8045238)
1994
44
Monostotic fibrous dysplasia of the thoracic spine. (8178238)
1994
45
Residents' corner. Answer to case of the month #12. McCune-Albright syndrome (polyostotic fibrous dysplasia). (1562893)
1992
46
Monostotic fibrous dysplasia in a dog. (2588440)
1989
47
Monostotic fibrous dysplasia of the temporal bone. (1244186)
1975
48
Differential diagnosis of fibro-osseous jaw lesions (fibrous dysplasia vs. ossifying fibroma). (4700219)
1973
49
MONOSTOTIC FIBROUS DYSPLASIA OF THE PARANASAL SINUSES. (14270683)
1965
50
Monostotic fibrous dysplasia of bone of traumatic origin. (13462580)
1957

Genetic Variations for Fibrous Dysplasia

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Expression for genes affiliated with Fibrous Dysplasia

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Fibrous Dysplasia

Search GEO for disease gene expression data for Fibrous Dysplasia.

Pathways for genes affiliated with Fibrous Dysplasia

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37NCBI BioSystems Database, 53Reactome, 12EMD Millipore, 51QIAGEN, 29KEGG
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Pathways related to Fibrous Dysplasia according to GeneCards/GeneDecks:

(show all 27)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.2IBSP, FGF23
210.1RUNX2, GHR, GH1
3
Hide members
10.1GHR, PRL, GH1
410.1RUNX2, BGLAP, IBSP
510.0GHR, RUNX2, BGLAP
6
Transcription Role of VDR in regulation of genes involved in osteoporosis
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10.0FOS, BGLAP, RUNX2
710.0PRL, FOS, BGLAP
8
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10.0GH1, PRL, FGF23, GHR
9
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9.9AREG, FGF23, GH1, GHRH
10
Hide members
9.9GHRH, GNA11, FOS, GH1
119.9BGLAP, FGF23, FOS, RUNX2
129.9FGF23, PRL, GH1, GHR, IBSP
13
Hide members
9.8GHRH, GHR, PRL, GH1, GNAS
14
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9.7GHRH, AREG, FGF23, GNA11, GH1
15
Hide members
9.7GNA11, AREG, FGF23, GH1, GHRH
16
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9.7GNA11, AREG, GHRH, GH1, FGF23
17
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9.7FGF23, FOS, AREG, GHRH, GH1
18
Hide members
9.7AREG, PRL, FOS, GH1, GHR
19
Hide members
9.6GH1, GHRH, AREG, FOS, APC, FGF23
20
Development Hedgehog and PTH signaling pathways in bone and cartilage development
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9.6IBSP, FOS, GNAS, GNA11, RUNX2, BGLAP
21
Hide members
9.6AREG, FOS, GNA11, GHRH, GH1, FGF23
22
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9.6FGF23, GHRH, AREG, GH1, FOS, GNA11
23
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9.6GNA11, FOS, GH1, FGF23, GHRH, AREG
24
Hide members
9.6FGF23, GH1, GNA11, GHRH, AREG, FOS
25
Hide members
9.4GNA11, FGF23, GH1, APC, GHRH, FOS
26
Hide members
9.3GH1, GHR, PRL, FGF23, GHRH, IBSP
27
Hide members
9.3FGF23, PRL, GH1, GHRH, GHR, AREG

Compounds for genes affiliated with Fibrous Dysplasia

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44Novoseek, 49PharmGKB, 11DrugBank, 28IUPHAR, 24HMDB, 59Tocris Bioscience
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Compounds related to Fibrous Dysplasia according to GeneCards/GeneDecks:

(show top 50)    (show all 100)
idCompoundScoreTop Affiliating Genes
1forskolin44 49 1112.4GHRH, AREG, IBSP
2ghrp4410.4GHR, PRL, GH1, GHRH
3hexarelin44 2811.3PRL, GH1, GHRH, GHR
4bromocriptine28 44 1112.3PRL, ADCY10, GHR, GHRH
5lanreotide44 2811.3GH1, PRL, GHRH, GHR
6alizarin4410.3BGLAP, IBSP, RUNX2, SPARC
7estradiol44 11 2412.3PRL, IBSP, GHRH, GHR
8salbutamol44 49 28 11 2414.2ADCY10, APC, GH1, GHRH
9cycloheximide4410.2GHR, GHRH, IBSP, RUNX2, ADCY10
10pyridinoline4410.2GH1, SPARC, BGLAP, IBSP
11titanium4410.2RUNX2, IBSP, BGLAP, SPARC
12dopamine44 28 11 2413.2FOS, GHR, GHRH, APC, GNAS
13naloxone44 49 28 1113.2ADCY10, PRL, GH1, GHRH, FOS
141,25 dihydroxy vitamin d34410.1FGF23, GH1, RUNX2, IBSP, BGLAP
15pertussis4410.1GH1, FOS, APC, ADCY10
16leuprolide acetate4410.1PRL, GH1, GHR
17pyridostigmine44 1111.1GHRH, GH1, PRL
18acth4410.1GHRH, GHR, APC, GNAS, PRL, GH1
19clonidine44 28 1112.1GH1, BGLAP, GHR, GHRH, ADCY10, PRL
20glucose4410.1UMOD, GHRH, RUNX2, APC, SPARC
21hydroxyapatite4410.0FGF23, IBSP, BGLAP, SPARC, RUNX2, UMOD
22octreotide44 59 28 1113.0PRL, GNAS, GHR, GHRH, ADCY10, FGF23
23opiate4410.0ADCY10, GHRH, GH1, PRL
24pegvisomant44 1111.0GHRH, GH1, GHR
25isoproterenol44 1111.0APC, AREG, GH1, ADCY10, GNAS
26thyroxine44 2411.0GH1, FOS, GHR, BGLAP, PRL, GHRH
27ribonucleic acid449.9RUNX2, GHR, GHRH, FOS, GNAS, GH1
28dihydrotestosterone44 28 11 2412.9AREG, BGLAP, GHR, GH1, PRL
29norepinephrine44 11 2411.9ADCY10, PRL, GHRH, GNAS, APC, AREG
30gnrh449.9PRL, GHR, GHRH, FOS, GNAS, GH1
31dexamethasone44 49 28 1112.9GHRH, BGLAP, IBSP, FOS, AREG, GH1
32tamoxifen44 49 28 1112.8GH1, GHRH, GHR, FOS, PRL, BGLAP
33calcitriol44 59 11 2412.8SPARC, GH1, GHR, FOS, FGF23, AREG
34paraffin449.8BGLAP, IBSP, APC, GHR, GH1, SPARC
35serine449.8RUNX2, GNAS, APC, BGLAP, FGF23, FOS
36sb 20358044 5910.7SPARC, BGLAP, RUNX2, FOS, AREG, GH1
37steroid449.7IBSP, RUNX2, GNAS, GH1, PRL, MSX2
38progesterone44 59 28 11 2413.7GHRH, SPARC, PRL, GH1, GHR, AREG
39thymidine44 2410.7GHR, GNAS, IBSP, SPARC, AREG, GH1
40heparin44 28 11 2412.7SPARC, AREG, APC, BGLAP, IBSP, UMOD
41vitamin d449.7SPARC, IBSP, BGLAP, FGF23, RUNX2, APC
42arginine449.7GH1, FGF23, GHRH, GHR, GNAS, BGLAP
43testosterone44 59 11 2412.6GHR, AREG, APC, BGLAP, GHRH, GH1
44oligonucleotide449.5GHR, IBSP, RUNX2, GNAS, APC, FOS
45vegf449.5RUNX2, IBSP, FOS, AREG, GH1, POSTN
46fatty acid449.5GHR, APC, RUNX2, GHRH, SPARC
47cyclic amp44 2410.5AREG, ADCY10, ALPPL2, GHRH, GHR, GNAS
48retinoic acid44 2410.4GHR, FOS, APC, RUNX2, GH1, SPARC
49tyrosine449.3FOS, NPHP1, APC, GHR, IBSP, RUNX2
50calcium44 49 11 2411.9GNAS, RUNX2, IBSP, BGLAP, FOS, UMOD

GO Terms for genes affiliated with Fibrous Dysplasia

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16Gene Ontology
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Cellular components related to Fibrous Dysplasia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular spaceGO:0056159.5UMOD, GHR, GHRH, GH1, FGF23, SPARC
2extracellular regionGO:0055769.0SPARC, BGLAP, IBSP, GNAS, GHR, GHRH

Biological processes related to Fibrous Dysplasia according to GeneCards/GeneDecks:

(show all 20)
idNameGO IDScoreTop Affiliating Genes
1growth hormone receptor signaling pathwayGO:06039610.4GH1, GHR
2regulation of osteoclast differentiationGO:04567010.4APC, BGLAP
3positive regulation of osteoblast differentiationGO:04566910.4RUNX2, GNAS, MSX2
4JAK-STAT cascade involved in growth hormone signaling pathwayGO:06039710.4PRL, GH1, GHR
5positive regulation of multicellular organism growthGO:04001810.4GHR, GHRH, GH1
6response to foodGO:03209410.4GHRH, GHR
7osteoblast developmentGO:00207610.4BGLAP, RUNX2, MSX2
8response to estradiol stimulusGO:03235510.4PRL, GH1, GHR
9osteoblast differentiationGO:00164910.3BGLAP, RUNX2, MSX2
10chondrocyte developmentGO:00206310.3MSX2, RUNX2
11response to gravityGO:00962910.3SPARC, FOS, BGLAP
12ossificationGO:00150310.3IBSP, RUNX2, SPARC
13cAMP biosynthetic processGO:00617110.2ADCY10, GNAS
14response to glucocorticoid stimulusGO:05138410.2BGLAP, GHR, SPARC
15positive regulation of JAK-STAT cascadeGO:04642710.2PRL, GH1
16cellular response to growth factor stimulusGO:07136310.2SPARC, MSX2, IBSP, BGLAP
17female pregnancyGO:00756510.2GNAS, FOS, PRL
18response to ethanolGO:04547110.1BGLAP, PRL, SPARC
19positive regulation of insulin-like growth factor receptor signaling pathwayGO:0435689.9GH1, GHRH
20response to drugGO:0424939.8BGLAP, GNAS, FOS, PRL

Molecular functions related to Fibrous Dysplasia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1adenylate cyclase activityGO:00401610.2ADCY10, GNAS
2prolactin receptor bindingGO:0051489.9PRL, GH1

Products for genes affiliated with Fibrous Dysplasia

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Sources for Fibrous Dysplasia

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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet