MCID: OST044
MIFTS: 51

Osteoglophonic Dysplasia malady

Genetic diseases, Rare diseases, Bone diseases, Fetal diseases categories

Summaries for Osteoglophonic Dysplasia

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Genetics Home Reference:21 Osteoglophonic dysplasia is a condition characterized by abnormal bone growth that leads to severe head and face (craniofacial) abnormalities, dwarfism, and other features. The term osteoglophonic refers to the bones (osteo-) having distinctive hollowed out (-glophonic) areas that appear as holes on x-ray images.

MalaCards based summary: Osteoglophonic Dysplasia, also known as osteoglophonic dwarfism, is related to beare-stevenson cutis gyrata syndrome and antley-bixler syndrome, and has symptoms including hypertelorism, craniosynostosis and abnormal form of the vertebral bodies. An important gene associated with Osteoglophonic Dysplasia is FGFR1 (fibroblast growth factor receptor 1), and among its related pathways are FGF signaling pathway and Endocytosis. The compounds regorafenib and chondroitin sulfate have been mentioned in the context of this disorder. Affiliated tissues include bone and testes, and related mouse phenotypes are renal/urinary system and normal.

Description from OMIM:45 166250

Aliases & Classifications for Osteoglophonic Dysplasia

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Sources:
45OMIM, 10diseasecard, 41NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 47Orphanet, 22GTR, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Osteoglophonic Dysplasia, Aliases & Descriptions:

Name: Osteoglophonic Dysplasia 45 10 41 20 21 22
Osteoglophonic Dwarfism 41 21 47
 
Fairbank-Keats Syndrome 41 21
Ogd 41 21


Classifications:

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


Characteristics (Orphanet epidemiological data):

47
osteoglophonic dwarfism:
Inheritance: Autosomal dominant


External Ids:

OMIM45 166250
Orphanet47 2645
MESH via Orphanet34 C536050
ICD10 via Orphanet26 Q87.1
UMLS via Orphanet61 C0432283

Related Diseases for Osteoglophonic Dysplasia

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Diseases related to Osteoglophonic Dysplasia via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 40)
idRelated DiseaseScoreTop Affiliating Genes
1beare-stevenson cutis gyrata syndrome10.4FGFR2
2antley-bixler syndrome10.4FGFR2
3osteochondroma10.2FGFR3
4pfeiffer syndrome10.1FGFR1, FGFR2
5prostatic hypertrophy10.1FGFR1, FGFR2
6neuronitis10.1
7cleft palate, isolated10.1FGFR1, FGFR2
8achondroplasia10.0FGFR2, FGFR3
9embryonal cancer10.0FGFR1, FGFR2
10ladd syndrome10.0FGFR3, FGFR2
11strabismus10.0FGFR3, FGFR2
12thanatophoric dysplasia, type i10.0FGFR3, FGFR2
13acanthosis nigricans10.0FGFR2, FGFR3
14syndactyly10.0FGFR2, FGFR3
15stomach cancer10.0FGFR1, FGFR2
16transitional cell carcinoma10.0FGFR2, FGFR3
17prostate cancer10.0FGFR2, FGFR1
18bladder cancer, somatic10.0FGFR3, FGFR2
19primary hyperoxaluria10.0FGFR1, FGFR2
20skin disease9.9FGFR3, FGFR2
21astrocytoma9.8FGFR1, FGFR2
22jackson-weiss syndrome9.8FGFR3, FGFR1, FGFR2
23fgfr-related craniosynostosis syndromes9.8FGFR3, FGFR1, FGFR2
24muenke syndrome9.8FGFR2, FGFR1, FGFR3
25crouzon syndrome9.8FGFR2, FGFR1, FGFR3
26myeloma9.8FGFR3, FGFR1
27apert syndrome9.8FGFR2, FGFR1, FGFR3
28hypochondroplasia9.8FGFR2, FGFR1, FGFR3
29acrocephalosyndactylia9.8FGFR3, FGFR1, FGFR2
30saethre-chotzen syndrome9.8FGFR2, FGFR1, FGFR3
31synostosis9.8FGFR2, FGFR1, FGFR3
32skeletal dysplasia multi-gene panels9.8FGFR2, FGFR1, FGFR3
33craniosynostosis9.8FGFR3, FGFR1, FGFR2
34dwarfism9.8FGFR3, FGFR1, FGFR2
35developmental disabilities9.8FGFR2, FGFR1, FGFR3
36chondrosarcoma9.8FGFR3, FGFR1, FGFR2
37colorectal cancer9.7FGFR3, FGFR1, FGFR2
38melanoma9.7FGFR2, FGFR1, FGFR3
39leukemia9.7FGFR3, FGFR1, FGFR2
40breast cancer9.7FGFR3, FGFR1, FGFR2

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



Diseases related to osteoglophonic dysplasia

Symptoms for Osteoglophonic Dysplasia

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Symptoms by clinical synopsis from OMIM:

166250

Clinical features from OMIM:

166250

Symptoms:

 47 (show all 20)
  • craniostenosis/craniosynostosis/sutural synostosis
  • hypertelorism
  • anodontia/oligodontia/hypodontia
  • abnormal vertebral size/shape
  • autosomal dominant inheritance
  • short stature/dwarfism/nanism
  • micrognathia/retrognathia/micrognathism/retrognathism
  • anteverted nares/nostrils
  • prominent/bat ears
  • clavicle absent/abnormal
  • rhizomelic micromelia
  • delayed bone age
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • choanal atresia
  • scoliosis
  • inguinal/inguinoscrotal/crural hernia
  • short hand/brachydactyly
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • abnormal/absent ossification

HPO human phenotypes related to Osteoglophonic Dysplasia:

(show all 63)
id Description Frequency HPO Source Accession
1 hypertelorism hallmark (90%) HP:0000316
2 craniosynostosis hallmark (90%) HP:0001363
3 abnormal form of the vertebral bodies hallmark (90%) HP:0003312
4 short stature hallmark (90%) HP:0004322
5 reduced number of teeth hallmark (90%) HP:0009804
6 micrognathia typical (50%) HP:0000347
7 abnormality of the pinna typical (50%) HP:0000377
8 anteverted nares typical (50%) HP:0000463
9 abnormality of the clavicles typical (50%) HP:0000889
10 delayed skeletal maturation typical (50%) HP:0002750
11 limb undergrowth typical (50%) HP:0009826
12 cryptorchidism occasional (7.5%) HP:0000028
13 choanal atresia occasional (7.5%) HP:0000453
14 brachydactyly syndrome occasional (7.5%) HP:0001156
15 scoliosis occasional (7.5%) HP:0002650
16 hernia of the abdominal wall occasional (7.5%) HP:0004299
17 abnormality of bone mineral density occasional (7.5%) HP:0004348
18 cognitive impairment occasional (7.5%) HP:0100543
19 autosomal dominant inheritance HP:0000006
20 inguinal hernia HP:0000023
21 cryptorchidism HP:0000028
22 chordee HP:0000041
23 hypospadias HP:0000047
24 high palate HP:0000218
25 malar flattening HP:0000272
26 mandibular prognathia HP:0000303
27 hypertelorism HP:0000316
28 long philtrum HP:0000343
29 low-set ears HP:0000369
30 anteverted nares HP:0000463
31 short neck HP:0000470
32 downslanted palpebral fissures HP:0000494
33 shallow orbits HP:0000586
34 unerupted tooth HP:0000706
35 delayed speech and language development HP:0000750
36 hypoplastic scapulae HP:0000882
37 platyspondyly HP:0000926
38 broad palm HP:0001169
39 broad metacarpals HP:0001230
40 craniosynostosis HP:0001363
41 failure to thrive HP:0001508
42 abnormality of the nasopharynx HP:0001739
43 nasal obstruction HP:0001742
44 broad foot HP:0001769
45 short foot HP:0001773
46 broad metatarsal HP:0001783
47 hypoplastic toenails HP:0001800
48 frontal bossing HP:0002007
49 respiratory distress HP:0002098
50 increased susceptibility to fractures HP:0002659
51 cloverleaf skull HP:0002676
52 short nose HP:0003196
53 short palm HP:0004279
54 depressed nasal bridge HP:0005280
55 pseudoarthrosis HP:0005864
56 broad phalanx HP:0006009
57 bowing of the long bones HP:0006487
58 rhizomelia HP:0008905
59 short phalanx of finger HP:0009803
60 limb undergrowth HP:0009826
61 short metacarpal HP:0010049
62 short metatarsal HP:0010743
63 midface retrusion HP:0011800

Drugs & Therapeutics for Osteoglophonic Dysplasia

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Drug clinical trials:

Search ClinicalTrials for Osteoglophonic Dysplasia

Search NIH Clinical Center for Osteoglophonic Dysplasia

Genetic Tests for Osteoglophonic Dysplasia

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Genetic tests related to Osteoglophonic Dysplasia:

id Genetic test Affiliating Genes
1 Osteoglophonic Dysplasia20 22 FGFR1

Anatomical Context for Osteoglophonic Dysplasia

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MalaCards organs/tissues related to Osteoglophonic Dysplasia:

31
Bone, Testes

Animal Models for Osteoglophonic Dysplasia or affiliated genes

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MGI Mouse Phenotypes related to Osteoglophonic Dysplasia:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053679.3FGFR3, FGFR2
2MP:00028739.1FGFR3, FGFR2
3MP:00053778.7FGFR3, FGFR1, FGFR2
4MP:00053718.7FGFR3, FGFR1, FGFR2
5MP:00053828.7FGFR2, FGFR1, FGFR3
6MP:00030128.6FGFR3, FGFR1, FGFR2
7MP:00053818.6FGFR2, FGFR1, FGFR3
8MP:00053918.5FGFR3, FGFR1, FGFR2
9MP:00053908.4FGFR2, FGFR1, FGFR3
10MP:00107718.2FGFR3, FGFR1, FGFR2

Publications for Osteoglophonic Dysplasia

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Articles related to Osteoglophonic Dysplasia:

idTitleAuthorsYear
1
Osteoglophonic dysplasia: A 'common' mutation in a rare disease. (20236123)
2010
2
Osteoglophonic dysplasia: a case report. (20339250)
2010
3
Extended mutational analyses of FGFR1 in osteoglophonic dysplasia. (16470795)
2006
4
Osteoglophonic dysplasia: dental and orthodontic implications. (16918680)
2006
5
Mutations that cause osteoglophonic dysplasia define novel roles for FGFR1 in bone elongation. (15625620)
2005
6
Osteoglophonic dysplasia: appearance and progression of multiple nonossifying fibromata. (8995175)
1997
7
Osteoglophonic dysplasia: review and further delineation of the syndrome. (8958322)
1996
8
Osteoglophonic dysplasia. (2325100)
1990
9
Osteoglophonic dysplasia. (2810341)
1989
10
Osteoglophonic dysplasia: a new case. (3409933)
1988

Variations for Osteoglophonic Dysplasia

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UniProtKB/Swiss-Prot genetic disease variations for Osteoglophonic Dysplasia:

62
id Symbol AA change Variation ID SNP ID
1FGFR1p.Asn330IleVAR_030987
2FGFR1p.Tyr374CysVAR_030993
3FGFR1p.Cys381ArgVAR_030994

Clinvar genetic disease variations for Osteoglophonic Dysplasia:

6
id Gene Variation Type Significance SNP ID Assembly Location
1FGFR1NM_023110.2(FGFR1): c.989A> T (p.Asn330Ile)single nucleotide variantPathogenicrs121909632GRCh37Chr 8, 38279407: 38279407
2FGFR1NM_023110.2(FGFR1): c.1121A> G (p.Tyr374Cys)single nucleotide variantPathogenicrs121909631GRCh37Chr 8, 38277214: 38277214
3FGFR1FGFR1, CYS379ARGsingle nucleotide variantPathogenic
4FGFR1NM_023110.2(FGFR1): c.1141T> C (p.Cys381Arg)single nucleotide variantPathogenicrs121909634GRCh37Chr 8, 38277194: 38277194

Expression for genes affiliated with Osteoglophonic Dysplasia

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Search GEO for disease gene expression data for Osteoglophonic Dysplasia.

Pathways for genes affiliated with Osteoglophonic Dysplasia

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Pathways related to Osteoglophonic Dysplasia according to GeneCards Suite gene sharing:

(show all 45)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.3FGFR1, FGFR2
29.1FGFR3, FGFR2
3
Show member pathways
9.0FGFR1, FGFR3
49.0FGFR3, FGFR1
5
Show member pathways
8.5FGFR2, FGFR1, FGFR3
68.5FGFR2, FGFR1, FGFR3
7
Show member pathways
8.5FGFR2, FGFR1, FGFR3
8
Show member pathways
8.5FGFR2, FGFR1, FGFR3
9
Show member pathways
8.5FGFR2, FGFR1, FGFR3
108.5FGFR2, FGFR1, FGFR3
11
Show member pathways
8.5FGFR2, FGFR1, FGFR3
12
Show member pathways
8.5FGFR2, FGFR1, FGFR3
13
Show member pathways
8.5FGFR2, FGFR1, FGFR3
14
Show member pathways
8.5FGFR2, FGFR1, FGFR3
15
Show member pathways
8.5FGFR2, FGFR1, FGFR3
16
Show member pathways
8.5FGFR2, FGFR1, FGFR3
178.5FGFR2, FGFR1, FGFR3
18
Show member pathways
8.5FGFR2, FGFR1, FGFR3
198.5FGFR2, FGFR1, FGFR3
208.5FGFR3, FGFR1, FGFR2
21
Show member pathways
8.5FGFR3, FGFR1, FGFR2
22
Show member pathways
8.5FGFR3, FGFR1, FGFR2
238.5FGFR3, FGFR1, FGFR2
24
Show member pathways
8.5FGFR3, FGFR1, FGFR2
25
Show member pathways
8.5FGFR3, FGFR1, FGFR2
26
Show member pathways
8.5FGFR3, FGFR1, FGFR2
27
Show member pathways
8.5FGFR3, FGFR1, FGFR2
28
Show member pathways
8.5FGFR3, FGFR1, FGFR2
29
Show member pathways
8.5FGFR3, FGFR1, FGFR2
30
Show member pathways
8.5FGFR3, FGFR1, FGFR2
31
Show member pathways
8.5FGFR3, FGFR1, FGFR2
32
Show member pathways
8.5FGFR3, FGFR1, FGFR2
33
Show member pathways
8.5FGFR3, FGFR1, FGFR2
34
Show member pathways
Signaling Pathways in Glioblastoma36
8.5FGFR3, FGFR1, FGFR2
35
Show member pathways
MAPK signaling pathway36
8.5FGFR3, FGFR1, FGFR2
36
Show member pathways
8.5FGFR3, FGFR1, FGFR2
37
Show member pathways
8.5FGFR3, FGFR1, FGFR2
388.5FGFR3, FGFR1, FGFR2
398.5FGFR3, FGFR1, FGFR2
40
Show member pathways
8.5FGFR3, FGFR1, FGFR2
41
Show member pathways
8.5FGFR3, FGFR1, FGFR2
42
Show member pathways
8.5FGFR3, FGFR1, FGFR2
43
Show member pathways
8.5FGFR3, FGFR1, FGFR2
44
Show member pathways
8.5FGFR3, FGFR1, FGFR2
45
Show member pathways
8.5FGFR3, FGFR1, FGFR2

Compounds for genes affiliated with Osteoglophonic Dysplasia

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Compounds related to Osteoglophonic Dysplasia according to GeneCards Suite gene sharing:

(show all 36)
idCompoundScoreTop Affiliating Genes
1regorafenib49 1210.7FGFR2, FGFR1
2chondroitin sulfate43 2410.7FGFR2, FGFR1
3suramin43 28 1211.6FGFR1, FGFR2
4bromodeoxyuridine439.6FGFR1, FGFR2
5heparan sulfate43 2410.6FGFR1, FGFR2
6glyceraldehyde 3-phosphate439.6FGFR1, FGFR2
7agar439.5FGFR1, FGFR2
8thalidomide43 49 59 1212.5FGFR2, FGFR3
9ribonucleic acid439.4FGFR2, FGFR1
10sulfate43 2410.4FGFR2, FGFR3
11pazopanib49 1210.4FGFR1, FGFR3
1212-o-tetradecanoylphorbol 13-acetate439.4FGFR1, FGFR2
13polysaccharide439.3FGFR1, FGFR2
14guanine43 24 1211.3FGFR3, FGFR2
15pd 98,059439.3FGFR1, FGFR2
16imatinib43 49 1211.3FGFR3, FGFR1
17paclitaxel43 49 1211.2FGFR2, FGFR1
18su 5402598.9FGFR3, FGFR2, FGFR1
19pd 161570598.9FGFR2, FGFR1, FGFR3
20fiin 1 hydrochloride598.9FGFR2, FGFR1, FGFR3
21su5402438.9FGFR2, FGFR1, FGFR3
22pd 17307443 599.9FGFR3, FGFR1, FGFR2
23palifermin43 129.9FGFR2, FGFR1, FGFR3
24ponatinib49 129.9FGFR3, FGFR1, FGFR2
25phenylalanine438.9FGFR2, FGFR1, FGFR3
26phosphotyrosine438.9FGFR3, FGFR1, FGFR2
27lysine438.9FGFR3, FGFR1, FGFR2
28oligonucleotide438.9FGFR3, FGFR1, FGFR2
29vegf438.9FGFR2, FGFR1, FGFR3
30threonine438.9FGFR3, FGFR1, FGFR2
31glutamate438.9FGFR2, FGFR1, FGFR3
32cysteine438.8FGFR3, FGFR1, FGFR2
33lipid438.8FGFR2, FGFR1, FGFR3
34serine438.7FGFR2, FGFR1, FGFR3
35tyrosine438.7FGFR2, FGFR1, FGFR3
36calcium43 49 24 1211.2FGFR3, FGFR1, FGFR2

GO Terms for genes affiliated with Osteoglophonic Dysplasia

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Cellular components related to Osteoglophonic Dysplasia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1extracellular regionGO:00055768.5FGFR3, FGFR1, FGFR2
2cytoplasmic membrane-bounded vesicleGO:00160238.4FGFR3, FGFR1, FGFR2
3integral component of plasma membraneGO:00058878.2FGFR3, FGFR1, FGFR2

Biological processes related to Osteoglophonic Dysplasia according to GeneCards Suite gene sharing:

(show all 38)
idNameGO IDScoreTop Affiliating Genes
1fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex developmentGO:00356079.7FGFR2, FGFR1
2ventricular zone neuroblast divisionGO:00218479.7FGFR2, FGFR1
3mesenchymal cell differentiationGO:00487629.7FGFR1, FGFR2
4lung-associated mesenchyme developmentGO:00604849.7FGFR2, FGFR1
5branching involved in salivary gland morphogenesisGO:00604459.7FGFR1, FGFR2
6positive regulation of cardiac muscle cell proliferationGO:00600459.7FGFR1, FGFR2
7skeletal system morphogenesisGO:00487059.6FGFR1, FGFR2
8positive regulation of cell cycleGO:00457879.6FGFR2, FGFR1
9midbrain developmentGO:00309019.6FGFR1, FGFR2
10positive regulation of mesenchymal cell proliferationGO:00020539.6FGFR1, FGFR2
11ureteric bud developmentGO:00016579.6FGFR2, FGFR1
12lens fiber cell developmentGO:00703079.5FGFR3, FGFR2
13negative regulation of mitosisGO:00458399.5FGFR3, FGFR2
14inner ear morphogenesisGO:00424729.5FGFR1, FGFR2
15bone morphogenesisGO:00603499.5FGFR3, FGFR2
16positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathwayGO:00900809.4FGFR3, FGFR1
17negative regulation of epithelial cell proliferationGO:00506809.3FGFR2, FGFR3
18positive regulation of canonical Wnt signaling pathwayGO:00902639.3FGFR3, FGFR2
19chondrocyte differentiationGO:00020629.3FGFR1, FGFR3
20angiogenesisGO:00015259.2FGFR2, FGFR1
21positive regulation of ERK1 and ERK2 cascadeGO:00703749.2FGFR3, FGFR2
22MAPK cascadeGO:00001659.1FGFR1, FGFR3
23cell-cell signalingGO:00072679.1FGFR3, FGFR2
24skeletal system developmentGO:00015019.0FGFR3, FGFR1
25in utero embryonic developmentGO:00017019.0FGFR1, FGFR2
26positive regulation of phospholipase activityGO:00105188.9FGFR3, FGFR1, FGFR2
27positive regulation of MAPK cascadeGO:00434108.9FGFR3, FGFR1, FGFR2
28peptidyl-tyrosine phosphorylationGO:00181088.9FGFR3, FGFR1, FGFR2
29phosphatidylinositol-mediated signalingGO:00480158.9FGFR3, FGFR1, FGFR2
30insulin receptor signaling pathwayGO:00082868.9FGFR2, FGFR1, FGFR3
31protein autophosphorylationGO:00467778.9FGFR3, FGFR1, FGFR2
32fibroblast growth factor receptor signaling pathwayGO:00085438.9FGFR2, FGFR1, FGFR3
33Fc-epsilon receptor signaling pathwayGO:00380958.9FGFR3, FGFR1, FGFR2
34epidermal growth factor receptor signaling pathwayGO:00071738.9FGFR2, FGFR1, FGFR3
35neurotrophin TRK receptor signaling pathwayGO:00480118.9FGFR2, FGFR1, FGFR3
36positive regulation of cell proliferationGO:00082848.8FGFR2, FGFR1, FGFR3
37negative regulation of transcription from RNA polymerase II promoterGO:00001228.8FGFR3, FGFR1, FGFR2
38innate immune responseGO:00450878.7FGFR3, FGFR1, FGFR2

Molecular functions related to Osteoglophonic Dysplasia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1heparin bindingGO:00082019.0FGFR1, FGFR2
2fibroblast growth factor-activated receptor activityGO:00050078.6FGFR3, FGFR1, FGFR2
3fibroblast growth factor bindingGO:00171348.5FGFR3, FGFR1, FGFR2
4ATP bindingGO:00055248.5FGFR3, FGFR1, FGFR2
5protein tyrosine kinase activityGO:00047138.4FGFR2, FGFR1, FGFR3

Products for genes affiliated with Osteoglophonic Dysplasia

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Sources for Osteoglophonic Dysplasia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet