MCID: ALS001
MIFTS: 52

Alstrom Syndrome malady

Categories: Genetic diseases, Rare diseases, Eye diseases, Nephrological diseases, Ear diseases, Endocrine diseases, Fetal diseases

Aliases & Classifications for Alstrom Syndrome

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Aliases & Descriptions for Alstrom Syndrome:

Name: Alstrom Syndrome 51 11 23 47 24 25 69 12 49 38 13 67
Alström Syndrome 70 23 47 25 53
Alms 47 25 69
Alstrom's Syndrome 47 26
 
Alstrom-Hallgren Syndrome 25
Alstroem Syndrome 69
Alss 47

Characteristics:

Orphanet epidemiological data:

53
alström syndrome:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Worldwide); Age of onset: Adolescent,Adult,Childhood,Infancy,Neonatal; Age of death: adolescent,adult,early childhood,infantile,late childhood,young Adult

HPO:

63
alstrom syndrome:
Inheritance: autosomal recessive inheritance

GeneReviews:

23
Penetrance: no clinically unaffected individuals with two alms1 pathogenic variants in trans have been reported; thus, penetrance appears to be 100% [marshall et al 2011a]...


Classifications:



External Ids:

OMIM51 203800
Disease Ontology11 DOID:0050473
MeSH38 D056769
NCIt44 C84549
SNOMED-CT61 63702009
Orphanet53 ORPHA64
MESH via Orphanet39 D056769
UMLS via Orphanet68 C0268425
MedGen36 C0268425

Summaries for Alstrom Syndrome

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NIH Rare Diseases:47 Alström syndrome is a rare genetic disorder that affects many body systems. Symptoms develop gradually, beginning in infancy, and can be variable. In childhood, the disorder is generally characterized by vision and hearing abnormalities, childhood obesity, and heart disease (cardiomyopathy). Over time, diabetes mellitus, liver problems, and slowly progressive kidney dysfunction which can lead to kidney failure may develop. Alström syndrome is caused by mutations in the ALMS1 gene. It is inherited in an autosomal recessive manner. While there is no specific treatment for Alström syndrome, symptoms can be managed by a team of specialists with the goal of improving the quality of life and increasing the lifespan. Last updated: 6/22/2016

MalaCards based summary: Alstrom Syndrome, also known as alström syndrome, is related to obesity and lipodystrophy, familial partial, 2, and has symptoms including sensorineural hearing impairment, chorioretinal abnormality and truncal obesity. An important gene associated with Alstrom Syndrome is ALMS1 (ALMS1, Centrosome And Basal Body Associated Protein). Affiliated tissues include kidney, liver and heart, and related mouse phenotypes are renal/urinary system and digestive/alimentary.

Disease Ontology:11 An autosomal recessive disease that is characterized by multiorgan dysfunction. The key features are childhood obesity, blindness due to congenital retinal dystrophy, and sensorineural hearing loss with autosomal recessive inheritance and has material basis in mutations in the ALMS1 gene.

Genetics Home Reference:25 Alström syndrome is a rare condition that affects many body systems. Many of the signs and symptoms of this condition begin in infancy or early childhood, although some appear later in life.

OMIM:51 Alstrom syndrome is an autosomal recessive disorder characterized by progressive cone-rod dystrophy leading to... (203800) more...

UniProtKB/Swiss-Prot:69 Alstrom syndrome: A rare autosomal recessive disorder characterized by progressive cone- rod retinal dystrophy, neurosensory hearing loss, early childhood obesity and diabetes mellitus type 2. Dilated cardiomyopathy, acanthosis nigricans, male hypogonadism, hypothyroidism, developmental delay and hepatic dysfunction can also be associated with the syndrome.

Wikipedia:70 Alström syndrome, also called Alstrom-Halgren Syndrome, is a rare genetic disorder caused by mutations... more...

GeneReviews for NBK1267

Related Diseases for Alstrom Syndrome

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Graphical network of the top 20 diseases related to Alstrom Syndrome:



Diseases related to alstrom syndrome

Symptoms for Alstrom Syndrome

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Symptoms by clinical synopsis from OMIM:

203800

Clinical features from OMIM:

203800

Human phenotypes related to Alstrom Syndrome:

 63 53 (show all 91)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 sensorineural hearing impairment63 hallmark (90%) HP:0000407
2 chorioretinal abnormality63 53 hallmark (90%) Very frequent (99-80%) HP:0000532
3 truncal obesity63 53 hallmark (90%) Very frequent (99-80%) HP:0001956
4 short stature63 53 hallmark (90%) Very frequent (99-80%) HP:0004322
5 otitis media63 typical (50%) HP:0000388
6 visual impairment63 typical (50%) HP:0000505
7 cataract63 53 typical (50%) Frequent (79-30%) HP:0000518
8 photophobia63 53 typical (50%) Frequent (79-30%) HP:0000613
9 nystagmus63 53 typical (50%) Frequent (79-30%) HP:0000639
10 hyperinsulinemia63 53 typical (50%) Frequent (79-30%) HP:0000842
11 insulin resistance63 53 typical (50%) Frequent (79-30%) HP:0000855
12 acanthosis nigricans63 53 typical (50%) Frequent (79-30%) HP:0000956
13 hypertrophic cardiomyopathy63 typical (50%) HP:0001639
14 pulmonary hypertension63 53 typical (50%) Frequent (79-30%) HP:0002092
15 respiratory insufficiency63 53 typical (50%) Frequent (79-30%) HP:0002093
16 asthma63 53 typical (50%) Frequent (79-30%) HP:0002099
17 recurrent respiratory infections63 53 typical (50%) Frequent (79-30%) HP:0002205
18 abnormality of lipid metabolism63 typical (50%) HP:0003119
19 type ii diabetes mellitus63 53 typical (50%) Frequent (79-30%) HP:0005978
20 abnormality of the testis63 occasional (7.5%) HP:0000035
21 abnormality of female external genitalia63 53 occasional (7.5%) Occasional (29-5%) HP:0000055
22 vesicoureteral reflux63 53 occasional (7.5%) Occasional (29-5%) HP:0000076
23 renal insufficiency63 53 occasional (7.5%) Occasional (29-5%) HP:0000083
24 abnormality of the renal tubule63 occasional (7.5%) HP:0000091
25 nephrocalcinosis63 53 occasional (7.5%) Occasional (29-5%) HP:0000121
26 decreased fertility63 occasional (7.5%) HP:0000144
27 polycystic ovaries63 53 occasional (7.5%) Occasional (29-5%) HP:0000147
28 round face63 53 occasional (7.5%) Occasional (29-5%) HP:0000311
29 deeply set eye63 53 occasional (7.5%) Occasional (29-5%) HP:0000490
30 autism63 53 occasional (7.5%) Occasional (29-5%) HP:0000717
31 obsessive-compulsive behavior63 53 occasional (7.5%) Occasional (29-5%) HP:0000722
32 abnormality of the urethra63 53 occasional (7.5%) Occasional (29-5%) HP:0000795
33 hypothyroidism63 53 occasional (7.5%) Occasional (29-5%) HP:0000821
34 precocious puberty63 53 occasional (7.5%) Occasional (29-5%) HP:0000826
35 hypertrichosis63 occasional (7.5%) HP:0000998
36 seizures63 53 occasional (7.5%) Occasional (29-5%) HP:0001250
37 cirrhosis63 53 occasional (7.5%) Occasional (29-5%) HP:0001394
38 hepatic steatosis63 53 occasional (7.5%) Occasional (29-5%) HP:0001397
39 portal hypertension63 53 occasional (7.5%) Occasional (29-5%) HP:0001409
40 alopecia63 53 occasional (7.5%) Occasional (29-5%) HP:0001596
41 congestive heart failure63 53 occasional (7.5%) Occasional (29-5%) HP:0001635
42 splenomegaly63 53 occasional (7.5%) Occasional (29-5%) HP:0001744
43 pulmonary fibrosis63 53 occasional (7.5%) Occasional (29-5%) HP:0002206
44 hepatomegaly63 53 occasional (7.5%) Occasional (29-5%) HP:0002240
45 aplasia/hypoplasia of the cerebellum63 53 occasional (7.5%) Occasional (29-5%) HP:0007360
46 abnormality of adipose tissue63 53 occasional (7.5%) Occasional (29-5%) HP:0009124
47 cognitive impairment63 occasional (7.5%) HP:0100543
48 chronic hepatic failure63 53 occasional (7.5%) Occasional (29-5%) HP:0100626
49 renovascular hypertension63 53 occasional (7.5%) Occasional (29-5%) HP:0100817
50 glomerulopathy63 53 occasional (7.5%) Occasional (29-5%) HP:0100820
51 nephritis63 HP:0000123
52 abnormality of the teeth63 HP:0000164
53 gingivitis63 HP:0000230
54 progressive sensorineural hearing impairment63 53 Very frequent (99-80%) HP:0000408
55 subcapsular cataract63 HP:0000523
56 cone/cone-rod dystrophy63 HP:0000548
57 pigmentary retinopathy63 HP:0000580
58 blindness63 53 Frequent (79-30%) HP:0000618
59 gynecomastia63 HP:0000771
60 hypergonadotropic hypogonadism63 HP:0000815
61 hypertension63 HP:0000822
62 growth hormone deficiency63 HP:0000824
63 insulin-resistant diabetes mellitus63 HP:0000831
64 menstrual irregularities63 HP:0000858
65 diabetes insipidus63 HP:0000873
66 abnormality of the hand63 HP:0001155
67 global developmental delay63 53 Occasional (29-5%) HP:0001263
68 dilated cardiomyopathy63 53 Frequent (79-30%) HP:0001644
69 pes planus63 HP:0001763
70 tubulointerstitial nephritis63 53 Occasional (29-5%) HP:0001970
71 hyperuricemia63 HP:0002149
72 hypertriglyceridemia63 53 Frequent (79-30%) HP:0002155
73 atherosclerosis63 HP:0002621
74 scoliosis63 HP:0002650
75 kyphosis63 HP:0002808
76 elevated hepatic transaminases63 HP:0002910
77 hypoalphalipoproteinemia63 HP:0003233
78 hyperostosis frontalis interna63 HP:0004438
79 accelerated skeletal maturation63 HP:0005616
80 multinodular goiter63 HP:0005987
81 recurrent pneumonia63 HP:0006532
82 chronic active hepatitis63 HP:0200120
83 male hypogonadism53 Occasional (29-5%)
84 chronic otitis media53 Frequent (79-30%)
85 progressive visual loss53 Frequent (79-30%)
86 cone-rod dystrophy53 Very frequent (99-80%)
87 depression53 Occasional (29-5%)
88 intellectual disability53 Occasional (29-5%)
89 generalized hirsutism53 Occasional (29-5%)
90 decreased testicular size53 Occasional (29-5%)
91 death in early adulthood53 Frequent (79-30%)

UMLS symptoms related to Alstrom Syndrome:


hepatomegaly

Drugs & Therapeutics for Alstrom Syndrome

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Drugs for Alstrom Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Liver Extracts3868

Interventional clinical trials:

idNameStatusNCT IDPhase
1Setmelanotide Phase 2 Treatment Trial in Patients With Rare Genetic Disorders of ObesityNot yet recruitingNCT03013543Phase 2, Phase 3
2Safety and Tolerability of PBI-4050 and Its Effects on the Biomarkers in Subjects With Alström SyndromeRecruitingNCT02739217Phase 2
3Clinical Study of a Single Ciliopathy: Alström SyndromeRecruitingNCT02890550
4Clinical and Molecular Investigations Into CiliopathiesActive, not recruitingNCT00068224

Search NIH Clinical Center for Alstrom Syndrome


Cochrane evidence based reviews: alstrom syndrome

Genetic Tests for Alstrom Syndrome

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Genetic tests related to Alstrom Syndrome:

id Genetic test Affiliating Genes
1 Alstrom Syndrome26 24 ALMS1

Anatomical Context for Alstrom Syndrome

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MalaCards organs/tissues related to Alstrom Syndrome:

35
Kidney, Liver, Heart, Eye, Testis, Ovary, Cerebellum

Animal Models for Alstrom Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Alstrom Syndrome:

40 (show all 12)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053678.4ALMS1, BBS1, BBS2, INS, LEP, SLC4A4
2MP:00053818.2BBS2, INS, LEP, NODAL, SLC4A4, TGFA
3MP:00053808.0DCTN1, DLX3, INS, LBX2, LEP, NODAL
4MP:00107717.9BBS2, DLX3, INS, KCNJ11, LEP, SLC4A4
5MP:00053797.8ALMS1, BBS2, DLX3, INS, KCNJ11, LEP
6MP:00053757.8ALMS1, BBS1, BBS2, INS, KCNJ11, LEP
7MP:00053917.4ALMS1, BBS1, BBS2, INS, LEP, NODAL
8MP:00053857.2BBS1, DLX3, INS, KCNJ11, LEP, NODAL
9MP:00053786.6ALMS1, BBS1, BBS2, DLX3, INS, KCNJ11
10MP:00053766.4ALMS1, BBS1, BBS2, DCTN1, INS, KCNJ11
11MP:00036316.2BBS1, BBS2, DCTN1, INS, KCNJ11, LBX2

Publications for Alstrom Syndrome

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Articles related to Alstrom Syndrome:

(show all 28)
idTitleAuthorsYear
1
Metabolic Syndrome in Childhood: Rare Case of Alstrom Syndrome with Blindness. (27605748)
2016
2
Ophthalmic Features of Children Not Yet Diagnosed with Alstrom Syndrome. (25864795)
2015
3
High quality, patient centred and coordinated care for Alstrom syndrome: a model of care for an ultra-rare disease. (26603037)
2015
4
Differential effects on I^-cell mass by disruption of Bardet-Biedl syndrome or Alstrom syndrome genes. (26494903)
2015
5
Atypical Alstrom syndrome with novel ALMS1 mutations precluded by current diagnostic criteria. (24503146)
2014
6
Presentation and course of diabetes in children and adolescents with Alstrom syndrome. (21518413)
2011
7
Alstrom syndrome: A rare genetic disorder and its anaesthetic significance. (20661355)
2010
8
Rare case of Alstrom syndrome with empty sella and interfamilial presence of Bardet-Biedl phenotype. (20108498)
2009
9
Novel human pathological mutations. Gene symbol: ALMS1. Disease: Alstrom syndrome. (17879439)
2007
10
Novel human pathological mutations. Gene symbol: ALMS1. Disease: Alstrom syndrome. (17879432)
2007
11
Alstrom syndrome (OMIM 203800): a case report and literature review. (18154657)
2007
12
Alstrom syndrome in four sibs from northern Jordan. (17146208)
2006
13
Syndromic obesity and diabetes: changes in body composition with age and mutation analysis of ALMS1 in 12 United Kingdom kindreds with Alstrom syndrome. (16720663)
2006
14
Rare case of Alstrom syndrome without obesity and with short stature, diagnosed in adulthood. (16669965)
2006
15
Alstrom syndrome. (12038666)
2002
16
Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alstrom syndrome. (11941369)
2002
17
Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alstrom syndrome. (11941370)
2002
18
Early-onset liver disease complicated with acute liver failure in Alstrom syndrome. (11343329)
2001
19
Alstrom syndrome: a case report. (11732744)
2001
20
Characterization of the murine Lbx2 promoter, identification of the human homologue, and evaluation as a candidate for Alstrom syndrome. (11386758)
2001
21
Alstrom syndrome in two siblings. (11265260)
2001
22
Alstrom syndrome with hepatic dysfunction: report of one case. (11100527)
2000
23
Acute lymphoblastic leukemia in one of two siblings with Alstrom syndrome. (11061078)
2000
24
Alstrom syndrome: confirmation of linkage to chromosome 2p12-13 and phenotypic heterogeneity in three affected sibs. (10882760)
2000
25
TGFA: exon-intron structure and evaluation as a candidate gene for Alstrom syndrome. (10066034)
1999
26
Human DCTN1: genomic structure and evaluation as a candidate for Alstrom syndrome. (9799602)
1998
27
The Alstrom syndrome: a new variant? (8181924)
1994
28
Alstrom syndrome. (1800358)
1991

Variations for Alstrom Syndrome

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Clinvar genetic disease variations for Alstrom Syndrome:

5 (show all 22)
id Gene Variation Type Significance SNP ID Assembly Location
1ALMS1NM_015120.4(ALMS1): c.10483C> T (p.Gln3495Ter)SNVPathogenicrs772624348GRCh38Chr 2, 73572357: 73572357
2ALMS1NM_015120.4(ALMS1): c.4156dupA (p.Thr1386Asnfs)duplicationPathogenicrs797045228GRCh37Chr 2, 73677807: 73677807
3ALMS1NM_015120.4(ALMS1): c.5145T> G (p.Tyr1715Ter)SNVLikely pathogenicrs772136379GRCh38Chr 2, 73451669: 73451669
4ALMS1NM_015120.4(ALMS1): c.2822T> A (p.Leu941Ter)SNVPathogenicrs539612316GRCh38Chr 2, 73449346: 73449346
5ALMS1NM_015120.4(ALMS1): c.3019dupA (p.Arg1007Lysfs)duplicationPathogenicrs878854998GRCh38Chr 2, 73449543: 73449543
6ALMS1NM_015120.4(ALMS1): c.9433dupA (p.Thr3145Asnfs)duplicationPathogenicrs878855003GRCh37Chr 2, 73718516: 73718516
7ALMS1NM_015120.4(ALMS1): c.6436C> T (p.Arg2146Ter)SNV, CompoundHeterozygotePathogenicrs770558150GRCh37Chr 2, 73680087: 73680087
8ALMS1NM_015120.4(ALMS1): c.1868A> G (p.Tyr623Cys)SNVLikely pathogenicrs193922693GRCh37Chr 2, 73675519: 73675519
9ALMS1NM_015120.4: c.5625delAdeletionLikely pathogenicChr na, -1: -1
10ALMS1ALMS1, 333-BP ALU INS, EX16insertionPathogenicChr na, -1: -1
11ALMS1ALMS1, 19-BP INSinsertionPathogenicChr na, -1: -1
12ALMS1NM_015120.4(ALMS1): c.8383C> T (p.Gln2795Ter)SNVPathogenicrs193919338GRCh37Chr 2, 73717466: 73717466
13ALMS1NM_015120.4(ALMS1): c.10775delC (p.Thr3592Lysfs)deletionPathogenicrs387906312GRCh37Chr 2, 73799776: 73799776
14ALMS1NM_015120.4(ALMS1): c.2141_2142delCT (p.Ser714Tyrfs)deletionPathogenicrs387906313GRCh37Chr 2, 73675792: 73675793
15ALMS1NM_015120.4(ALMS1): c.10992G> A (p.Trp3664Ter)SNVPathogenicrs193919339GRCh37Chr 2, 73799993: 73799993
16ALMS1NM_015120.4(ALMS1): c.10945G> T (p.Glu3649Ter)SNVPathogenicrs397514576GRCh38Chr 2, 73572819: 73572819
17ALMS1NM_015120.4(ALMS1): c.8164C> T (p.Arg2722Ter)SNVPathogenicrs193919340GRCh37Chr 2, 73717247: 73717247
18ALMS1NM_015120.4(ALMS1): c.1794_1801dupGGCTTTGA (p.Lys601Argfs)duplicationPathogenicrs398122991GRCh37Chr 2, 73675445: 73675452
19ALMS1NM_015120.4(ALMS1): c.11116_11134del19 (p.Arg3706Leufs)deletionPathogenicrs398122992GRCh37Chr 2, 73800117: 73800135
20ALMS1NM_015120.4(ALMS1): c.4296_4299delCACA (p.His1432Glnfs)deletionPathogenicrs398122993GRCh37Chr 2, 73677947: 73677950
21ALMS1NM_015120.4(ALMS1): c.5926delG (p.Glu1976Serfs)deletionPathogenicrs398122994GRCh37Chr 2, 73679577: 73679577
22ALMS1NM_015120.4(ALMS1): c.1900C> T (p.Gln634Ter)SNVPathogenicrs398122995GRCh37Chr 2, 73675551: 73675551

Expression for genes affiliated with Alstrom Syndrome

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Search GEO for disease gene expression data for Alstrom Syndrome.

Pathways for genes affiliated with Alstrom Syndrome

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GO Terms for genes affiliated with Alstrom Syndrome

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Cellular components related to Alstrom Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1BBSomeGO:003446410.1BBS1, BBS2
2ciliary basal bodyGO:00360649.1ALMS1, BBS1, BBS2, RPGR

Biological processes related to Alstrom Syndrome according to GeneCards Suite gene sharing:

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1regulation of stress fiber assemblyGO:005149210.6ALMS1, ALMS1P1
2inorganic anion transportGO:001569810.5SLC4A4, SLC4A5
3negative regulation of multicellular organism growthGO:004001510.4ALMS1, BBS2
4negative regulation of appetite by leptin-mediated signaling pathwayGO:003810810.3BBS2, LEP
5leptin-mediated signaling pathwayGO:003321010.3BBS2, LEP
6Golgi to plasma membrane protein transportGO:004300110.2BBS1, BBS2
7positive regulation of insulin receptor signaling pathwayGO:004662810.2INS, LEP
8melanosome transportGO:003240210.1BBS2, DCTN1
9regulation of fat cell differentiationGO:00455989.9ALMS1, LEP
10placenta developmentGO:00018909.6DLX3, LEP, NODAL
11glucose homeostasisGO:00425939.6ALMS1, INS, LEP
12positive regulation of mitotic nuclear divisionGO:00458409.3INS, TGFA
13ER to Golgi vesicle-mediated transportGO:00068889.3DCTN1, INS, TGFA
14glucose metabolic processGO:00060069.1INS, KCNJ11, LEP
15cilium assemblyGO:00602718.8ALMS1, BBS1, BBS2, RPGR

Molecular functions related to Alstrom Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1sodium:bicarbonate symporter activityGO:000851010.4SLC4A4, SLC4A5
2inorganic anion exchanger activityGO:000545210.4SLC4A4, SLC4A5
3RNA polymerase II repressing transcription factor bindingGO:00011039.7BBS1, BBS2
4growth factor activityGO:00080838.9LEP, NODAL, TGFA

Sources for Alstrom Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet