MCID: OLL001
MIFTS: 66

Ollier Disease malady

Genetic diseases, Rare diseases, Cardiovascular diseases, Bone diseases, Skin diseases, Fetal diseases, Cancer diseases categories
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Summaries for Ollier Disease

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NIH Rare Diseases:42 Maffucci syndrome is a disorder that primarily affects the bones and skin. it is characterized by multiple enchondromas (benign enlargements of cartilage), bone deformities, and hemangiomas (tangles of abnormal of blood vessels). the abnormal growths associated with maffucci syndrome may become cancerous (malignant). in particular, affected individuals may develop bone cancers called chondrosarcomas, especially in the skull. they also have an increased risk of other cancers, such as ovarian or liver cancer. the underlying cause of maffucci syndrome is unknown. no specific genes related to this disorder have been identified. researchers suggest that the condition may be associated with abnormalities occurring before birth in the development of two embryonic cell layers called the ectoderm and the mesoderm. last updated: 7/28/2014

MalaCards based summary: Ollier Disease, also known as maffucci syndrome, is related to hereditary multiple exostoses and osteochondroma, and has symptoms including lower limb asymmetry/hemiatrophy/hemihypertrophy, vascular anomalies of skin/mucosae and capillary hemangioma/nevus/naevus flammeus/port-wine stain. An important gene associated with Ollier Disease is IDH2 (isocitrate dehydrogenase 2 (NADP+), mitochondrial), and among its related pathways are Citric acid cycle (TCA cycle) and Glutathione metabolism. The compounds Oxalosuccinic acid and Isocitric acid have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and liver, and related mouse phenotypes are homeostasis/metabolism and limbs/digits/tail.

Disease Ontology:8 A syndrome that is characterized by an asymmetric distribution of cartilagenous tumors, which may lead to skeletal deformities and limb-length discrepancy. this condition primarily affects the long bones and cartilage of the joints of the arms and legs, specifically the area where the shaft and head of a long bone meet.

Genetics Home Reference:21 Maffucci syndrome is a disorder that primarily affects the bones and skin. It is characterized by multiple enchondromas, which are noncancerous (benign) growths of cartilage that develop on the bones. These growths most commonly occur in the limb bones, especially in the hands and feet; however, they may also occur in the skull, ribs, and vertebrae. Enchondromas may result in severe bone deformities, shortening of the limbs, and fractures. They develop near the ends of bones, where growth occurs, and enchondromas stop forming after affected individuals stop growing. As a result of the bone deformities associated with Maffucci syndrome, people with this disorder generally have short stature and underdeveloped muscles.

Wikipedia:65 Ollier disease is a rare nonhereditary sporadic disorder where intraosseous benign cartilaginous tumors... more...

Descriptions from OMIM:46 166000,614569

Aliases & Classifications for Ollier Disease

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Sources:
8Disease Ontology, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 10DISEASES, 44Novoseek, 48Orphanet, 46OMIM, 62UMLS, 57SNOMED-CT, 39NCIt, 34MeSH, 27ICD9CM, 26ICD10 via Orphanet, 63UMLS via Orphanet, 35MESH via Orphanet, 25ICD10
See all sources

Ollier Disease, Aliases & Descriptions:

Name: Ollier Disease 8 42 10 48
Maffucci Syndrome 8 42 21 48 46 62
Enchondromatosis 42 22 48 46
Dyschondroplasia 8 42 48 62
Hemangiomatosis Chondrodystrophica 42 21 62
Osteochondromatosis 8 20 62
Enchondromatosis with Multiple Cavernous Hemangiomas 42 62
Multiple Angiomas and Endochondromas 42 21
Dyschondrodysplasia with Hemangiomas 42 62
Enchondromatosis with Haemangiomata 8 62
Enchondromatosis with Hemangiomata 21 62
 
Hemangiomata with Dyschondroplasia 21 62
Chondrodysplasia with Hemangioma 21 62
Chondroplasia Angiomatosis 21 62
Kast Syndrome 42 21
Dyschondroplasia and Cavernous Hemangioma 21
Chondrodysplasia, Hereditary Deforming 62
Multiple Cartilaginous Enchondroses 42
Enchondromatosis, Multiple 8
Multiple Enchondromatosis 42
Olliers Disease 44
Kast's Syndrome 8


Classifications:



Characteristics (Orphanet epidemiological data):

48
maffucci syndrome:
Inheritance: Sporadic; Age of onset: Childhood
enchondromatosis:
Inheritance: Sporadic; Prevalence: 1-9/100000; Age of onset: Childhood


External Ids:

Disease Ontology8 DOID:4624
NCIt39 C3213
ICD9CM27 756.4
ICD10 via Orphanet26 Q78.4
UMLS via Orphanet63 C0024454, C0014084
MESH via Orphanet35 D004687
ICD1025 Q78.4

Related Diseases for Ollier Disease

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Diseases related to Ollier Disease via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 87)
idRelated DiseaseScoreTop Affiliating Genes
1hereditary multiple exostoses30.7EXT1, EXT2
2osteochondroma30.5PTHLH, EXT2, EXT1
3chondrosarcoma30.3EXT1, EXT2, PTHLH, PTH1R
4exostosis30.1EXT1, EXT2
5glioblastoma30.0PTPN11, IDH1, IDH2
6osteochondrosis10.6
7carpotarsal osteochondromatosis10.5
8mccune albright syndrome10.4GNAS
9enchondroma10.4
10cherubism10.4PTPN11
11interval angle-closure glaucoma10.4IDH2, IDH1
12d-2-hydroxyglutaric aciduria10.4IDH2, IDH1
13brachydactyly10.4GNAS
14intraductal papilloma10.4IDH2, IDH1
15synovial chondromatosis10.3
16metaphyseal dysplasia10.3PTH1R, PTHLH
17hypoparathyroidism10.3PTHLH, PTH1R
18primary hyperparathyroidism10.2PTHLH, PTH1R
19achondroplasia10.2
20dwarfism10.2PTHLH, PTH1R
21adenoma10.2
22pituitary adenoma10.2
23parathyroid adenoma10.2PTHLH, GNAS
24hyperprolactinemia10.2PTHLH, GNAS
25astrocytoma10.2
26upington disease10.2
27leydig cell tumor10.2PTHLH, GNAS
28enchondromatosis dwarfism deafness10.2
29spindle cell sarcoma10.1
30sarcoma10.1
31synovitis10.1
32hereditary multiple osteochondromatosis, type i10.1
33hereditary multiple osteochondromatosis, type ii10.1
34prolactinoma10.1PTHLH, GNAS
35pseudohypoparathyroidism type 1b10.1PTHLH, PTH1R, GNAS
36pseudohypoparathyroidism10.1GNAS, PTH1R, PTHLH
37hereditary multiple osteochondromas10.1EXT1, EXT2
38skeletal dysplasia multi-gene panels10.1PTHLH, PTH1R, GNAS
39osteomalacia10.1GNAS, PTH1R, PTHLH
40hypercalcemia10.1PTH1R, PTHLH
41autosomal dominant disease10.1EXT1, EXT2
42congenital fibrosarcoma10.1
43chondroma10.1
44extraosseous chondrosarcoma10.1
45fibrosarcoma10.1
46meningioma10.1
47hemangioendothelioma10.1
48soft tissue sarcoma10.1
49dysspondyloenchondromatosis10.1
50chronic kidney failure10.1GNAS, PTH1R, PTHLH

Graphical network of the top 20 diseases related to Ollier Disease:



Diseases related to ollier disease

Symptoms for Ollier Disease

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Symptoms by clinical synopsis from OMIM:

166000

Clinical features from OMIM:

166000,614569

Symptoms:

48 (show all 41)
  • lower limb asymmetry/hemiatrophy/hemihypertrophy
  • vascular anomalies of skin/mucosae
  • capillary hemangioma/nevus/naevus flammeus/port-wine stain
  • venous thrombosis/phlebitis/thrombophlebitis
  • mutiple fractures/bone fragility
  • enchondroses
  • osteolysis/osteoclasia/bone destruction/erosions
  • bone tumefaction/swelling
  • scoliosis
  • subcutaneous nodules/lipomas/tumefaction/swelling
  • exostoses
  • bone pain
  • joint/articular deformation
  • short stature/dwarfism/nanism
  • feeding disorder/dysphagia/swallowing/sucking disorder/esophageal dyskinesia
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • goiter
  • cranial nerves palsy
  • acute palsy
  • breast neoplasm/tumor/carcinoma/cancer
  • ovary/fallopian tube neoplasm/tumor/carcinoma/cancer (excl. teratoma/germinoma)
  • pituitary/hypophyseal neoplasm/tumor/carcinoma/cancer
  • parathyroid neoplasm/tumor/carcinoma/cancer
  • adrenal neoplasm/tumor/carcinoma/cancer
  • sarcoma
  • bone/osseous neoplasm/tumor/carcinoma/cancer
  • central nervous system/peripheral nerves neoplasm/tumor/carcinoma/cancer
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • short limbs/micromelia/brachymelia
  • cavernous/tuberous hemangioma
  • visceral angiomatosis (excluding skin)
  • metaphyseal anomaly
  • anomalies of cartilages, joints and periarticular tissue
  • restricted joint mobility/joint stiffness/ankylosis
  • platyspondyly
  • chronic skin infection/ulcerations/ulcers/cancrum
  • lymphangioma/lymphatic malformations
  • precocious puberty
  • anaemia
  • hemorrhage/hemorrhagic syndrome/excessive/long-lasting bleeding
  • neoplasms/tumors

HPO human phenotypes related to Ollier Disease:

(show all 44)
id Description Frequency HPO Source Accession
1 abnormality of the skin hallmark (90%) HP:0000951
2 recurrent fractures hallmark (90%) HP:0002757
3 osteolysis hallmark (90%) HP:0002797
4 thrombophlebitis hallmark (90%) HP:0004418
5 multiple enchondromatosis hallmark (90%) HP:0005701
6 lower limb asymmetry hallmark (90%) HP:0100559
7 abnormality of the metaphyses hallmark (90%) HP:0000944
8 cavernous hemangioma hallmark (90%) HP:0001048
9 osteolysis hallmark (90%) HP:0002797
10 micromelia hallmark (90%) HP:0002983
11 visceral angiomatosis hallmark (90%) HP:0100761
12 abnormality of the skin typical (50%) HP:0000951
13 abnormal joint morphology typical (50%) HP:0001367
14 scoliosis typical (50%) HP:0002650
15 bone pain typical (50%) HP:0002653
16 short stature typical (50%) HP:0004322
17 exostoses typical (50%) HP:0100777
18 limitation of joint mobility typical (50%) HP:0001376
19 bone pain typical (50%) HP:0002653
20 goiter occasional (7.5%) HP:0000853
21 respiratory insufficiency occasional (7.5%) HP:0002093
22 neoplasm of the nervous system occasional (7.5%) HP:0004375
23 cranial nerve paralysis occasional (7.5%) HP:0006824
24 feeding difficulties in infancy occasional (7.5%) HP:0008872
25 neoplasm of the breast occasional (7.5%) HP:0100013
26 cerebral palsy occasional (7.5%) HP:0100021
27 sarcoma occasional (7.5%) HP:0100242
28 ovarian neoplasm occasional (7.5%) HP:0100615
29 neoplasm of the adrenal gland occasional (7.5%) HP:0100631
30 neoplasm of the parathyroid gland occasional (7.5%) HP:0100733
31 precocious puberty occasional (7.5%) HP:0000826
32 platyspondyly occasional (7.5%) HP:0000926
33 anemia occasional (7.5%) HP:0001903
34 abnormality of coagulation occasional (7.5%) HP:0001928
35 thrombophlebitis occasional (7.5%) HP:0004418
36 neoplasm of the skeletal system occasional (7.5%) HP:0010622
37 sarcoma occasional (7.5%) HP:0100242
38 ovarian neoplasm occasional (7.5%) HP:0100615
39 lymphangioma occasional (7.5%) HP:0100764
40 skin ulcer occasional (7.5%) HP:0200042
41 hemangioma HP:0001028
42 multiple enchondromatosis HP:0005701
43 chondrosarcoma HP:0006765
44 abnormality of long bone morphology HP:0011314

Drugs & Therapeutics for Ollier Disease

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Drug clinical trials:

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Genetic Tests for Ollier Disease

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Genetic tests related to Ollier Disease:

id Genetic test Affiliating Genes
1 Osteochondromatosis20
2 Enchondromatosis22

Anatomical Context for Ollier Disease

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MalaCards organs/tissues related to Ollier Disease:

32
Bone, Skin, Liver, Lung, Breast, Ovary, Pituitary

Animal Models for Ollier Disease or affiliated genes

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MGI Mouse Phenotypes related to Ollier Disease:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053768.3TDP1, PTPN11, PTHLH, PTH1R, GNAS, IDH1
2MP:00053718.2GNAS, PTH1R, PTHLH, PTPN11, EXT1
3MP:00053828.0GNAS, PTH1R, PTHLH, PTPN11, EXT1
4MP:00053907.8EXT1, EXT2, PTPN11, PTHLH, PTH1R, GNAS

Publications for Ollier Disease

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Articles related to Ollier Disease:

(show all 45)
idTitleAuthorsYear
1
Enchondroma of the nasal septum due to Ollier disease: A case report and review of the literature. (24890303)
2014
2
Chondrosarcoma of the proximal humerus secondary to ollier disease: an 8-year follow-up of successful resection of the tumor with endoprosthetic replacement of the proximal humerus. (24734150)
2014
3
Clinical images: enchondromatosis (Ollier disease). (23918705)
2013
4
Ollier Disease With Digital Enchondromatosis: Anatomic and Functional Imaging. (24152634)
2013
5
PET-positive polyostotic fibrous dysplasia mimicking Ollier disease. (24292588)
2013
6
Treatment of combined spinal deformity in patient with ollier disease and abnormal vertebrae. (24436859)
2013
7
Ovarian cellular fibroma harbouring an isocitrate dehydrogenase 1 (1DH1) mutation in a patient with Ollier disease: evidence for a causal relationship. (23347143)
2013
8
Reconstruction of Ollier disease in a severely involved hand. (23187718)
2013
9
Corticoplasty for improved appearance of hands with Ollier disease. (23040642)
2012
10
Multifocal supratentorial diffuse glioma in a young patient with Ollier disease. (22249016)
2012
11
Multifocal intracranial astrocytoma in a pediatric patient with Ollier disease. (22623818)
2012
12
Somatic mosaic IDH1 and IDH2 mutations are associated with enchondroma and spindle cell hemangioma in Ollier disease and Maffucci syndrome. (22057234)
2011
13
Loss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndrome. (21533187)
2011
14
Ollier disease and Maffucci syndrome are caused by somatic mosaic mutations of IDH1 and IDH2. (22057236)
2011
15
Genome-wide analysis of Ollier disease: Is it all in the genes? (21235737)
2011
16
Gliomatosis cerebri in a patient with Ollier disease. (21868231)
2011
17
Incidence, predictive factors, and prognosis of chondrosarcoma in patients with Ollier disease and Maffucci syndrome: an international multicenter study of 161 patients. (22147000)
2011
18
Sonographic evaluation of enchondroma with soft tissue extension in the setting of Ollier disease. (21098859)
2010
19
A case of Ollier disease with non-small cell lung cancer and review of the literature. (19504096)
2010
20
Hand involvement in Ollier Disease and Maffucci Syndrome: a case series. (20975644)
2010
21
Pediatric thalamic glioblastoma associated with Ollier disease (multiple enchondromatosis): a rare case of concurrence. (19795968)
2009
22
Do intracranial neoplasms differ in Ollier disease and maffucci syndrome? An in-depth analysis of the literature. (19934970)
2009
23
Multiple enchondromatosis (Ollier disease). (19139610)
2009
24
Ollier disease. (19326125)
2009
25
First case of juvenile granulosa cell tumor in an adult with Ollier disease. (19696617)
2009
26
Acute myelogenous leukemia associated with Ollier disease. (16991136)
2008
27
PTHR1 mutations associated with Ollier disease result in receptor loss of function. (18559376)
2008
28
Progressive hemianopsia caused by intracranial enchondroma in Ollier disease. (19064887)
2008
29
Clinics in diagnostic imaging (124). Multiple enchondromatosis in Ollier disease. (18946621)
2008
30
Cerebellar anaplastic astrocytoma in a teenager with Ollier Disease. (18414790)
2008
31
Malformation of the humerus in a patient with Ollier disease treated with the Ilizarov technique. (18036843)
2008
32
Ollier disease. (16995932)
2006
33
cDNA expression profiling of chondrosarcomas: Ollier disease resembles solitary tumours and alteration in genes coding for components of energy metabolism occurs with increasing grade. (16007578)
2005
34
Enchondromatosis (Ollier disease, Maffucci syndrome) is not caused by the PTHR1 mutation p.R150C. (15523647)
2004
35
Bilateral symmetrical Ollier disease and Tc-99m MDP bone scintigraphy. (15192478)
2004
36
Ollier disease with synchronous multicentric chondrosarcomas: scintigraphic and radiologic demonstration. (14688600)
2004
37
Both Trevor and Ollier disease limited to one upper extremity. (11904692)
2002
38
Deletion 1p in a low-grade chondrosarcoma in a patient with Ollier disease. (9723029)
1998
39
What syndrome is this? Ollier disease + vascular lesions: Maffucci syndrome. (7792223)
1995
40
Ehlers-Danlos syndrome associated with Ollier disease. (17586905)
1994
41
Ollier disease: an interdisciplinary approach. (8164989)
1994
42
Case report 418: Multiple enchondromatosis (Ollier disease) with severe vertebral changes. (3589742)
1987
43
Case report 405: Ollier disease (enchondromatosis). (3823964)
1987
44
Ollier disease (enchondromatosis) associated with ovarian juvenile granulosa cell tumor and precocious pseudopuberty. (3712163)
1986
45
Fibromuscular dysplasia of intracranial arteries in a patient with multiple enchondromas (Ollier disease). (563016)
1977

Variations for Ollier Disease

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Expression for genes affiliated with Ollier Disease

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Expression patterns in normal tissues for genes affiliated with Ollier Disease

Search GEO for disease gene expression data for Ollier Disease.

Pathways for genes affiliated with Ollier Disease

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Pathways related to Ollier Disease according to GeneCards/GeneDecks:

(show all 11)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
TCA cycle37
pyruvate decarboxylation to acetyl CoA37
NAD phosphorylation and dephosphorylation37
TCA Cycle37
conversion of glucose to acetyl CoA and entry into the TCA cycle37
9.9IDH1, IDH2
2
Show member pathways
glutathione-mediated detoxification I37
glutathione redox reactions I37
glutathione redox reactions II37
4-hydroxy-2-nonenal detoxification37
Glutathione metabolism60
Glutathione metabolism37
9.9IDH1, IDH2
39.8PTHLH, PTH1R
49.7PTH1R, GNAS
59.4PTHLH, PTH1R, GNAS
69.4PTHLH, PTH1R, GNAS
7
Show member pathways
9.4GNAS, PTH1R, PTHLH
8
Show member pathways
9.3EXT1, EXT2
9
Show member pathways
heparan sulfate biosynthesis (late stages)37
9.3EXT1, EXT2
108.6IDH1, PTPN11, EXT2, EXT1
11
Show member pathways
8.3IDH2, IDH1, GNAS, EXT2, EXT1

Compounds for genes affiliated with Ollier Disease

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Compounds related to Ollier Disease according to GeneCards/GeneDecks:

(show all 21)
idCompoundScoreTop Affiliating Genes
1Oxalosuccinic acid2410.2IDH1, IDH2
2Isocitric acid24 1111.2IDH2, IDH1
3isocitrate4410.1IDH1, IDH2
4Oxoglutaric acid2410.0IDH2, IDH1
5guanosine 5-o-(3-thiotriphosphate)4410.0GNAS, PTH1R
6phosphorus449.9PTHLH, PTH1R
7ccl444 2810.9PTHLH, PTH1R
8ribonucleic acid449.7GNAS, PTH1R, PTHLH
9octreotide44 61 28 1112.6GNAS, PTHLH
10Uridine diphosphate-N-acetylglucosamine249.6EXT1, EXT2
11nadph44 2410.4PTPN11, IDH1, IDH2
12pge2449.4PTHLH, PTH1R, GNAS
13heparan sulfate44 2410.3EXT1, EXT2, PTHLH
14forskolin44 50 1111.3PTPN11, PTHLH, PTH1R, GNAS
15thymidine44 2410.3GNAS, PTH1R, PTHLH, PTPN11
16nitric oxide44 24 1111.2GNAS, PTH1R, PTHLH, PTPN11
17threonine449.2PTPN11, PTHLH, PTH1R, GNAS
18alanine449.1PTPN11, PTHLH, PTH1R, GNAS
19hydrogen44 2410.1PTPN11, PTHLH, PTH1R
20arginine448.5EXT1, EXT2, PTPN11, PTHLH, GNAS
21calcium44 50 24 1111.4PPFIBP1, IDH1, GNAS, PTH1R, PTHLH, PTPN11

GO Terms for genes affiliated with Ollier Disease

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Biological processes related to Ollier Disease according to GeneCards/GeneDecks:

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1glyoxylate cycleGO:00609710.2IDH2, IDH1
2isocitrate metabolic processGO:00610210.1IDH2, IDH1
32-oxoglutarate metabolic processGO:00610310.1IDH1, IDH2
4osteoblast developmentGO:00207610.0PTH1R, PTHLH
5tricarboxylic acid cycleGO:0060999.9IDH1, IDH2
6endochondral ossificationGO:0019589.8GNAS, PTHLH
7adenylate cyclase-activating G-protein coupled receptor signaling pathwayGO:0071899.7PTHLH, PTH1R, GNAS
8cellular polysaccharide biosynthetic processGO:0336929.6EXT2, EXT1
9endoderm developmentGO:0074929.6EXT1, PTHLH
10positive regulation of cAMP biosynthetic processGO:0308199.6PTHLH, GNAS
11heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic processGO:0150149.6EXT1, EXT2
12heparan sulfate proteoglycan biosynthetic processGO:0150129.6EXT1, EXT2
13skeletal system developmentGO:0015019.4EXT1, PTHLH, PTH1R
14carbohydrate metabolic processGO:0059759.0EXT1, EXT2, IDH2
15glycosaminoglycan biosynthetic processGO:0060249.0EXT2, EXT1
16small molecule metabolic processGO:0442818.5EXT1, EXT2, GNAS, IDH1, IDH2

Molecular functions related to Ollier Disease according to GeneCards/GeneDecks:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1isocitrate dehydrogenase (NADP+) activityGO:00445010.1IDH1, IDH2
2NAD bindingGO:0512879.9IDH1, IDH2
3peptide hormone receptor bindingGO:0514289.7PTHLH, PTPN11
4heparan sulfate N-acetylglucosaminyltransferase activityGO:0423289.5EXT1, EXT2
5N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activityGO:0505099.5EXT1, EXT2
6glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activityGO:0505089.4EXT1, EXT2
7acetylglucosaminyltransferase activityGO:0083759.3EXT1, EXT2
8transferase activity, transferring glycosyl groupsGO:0167579.2EXT1, EXT2
9glucuronosyltransferase activityGO:0150209.0EXT1, EXT2

Products for genes affiliated with Ollier Disease

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Sources for Ollier Disease

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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet