CRB
MCID: LBR001
MIFTS: 74

Leber Congenital Amaurosis (CRB) malady

Eye, Neuronal categories

Summaries for Leber Congenital Amaurosis

Sources:
8Disease Ontology, 21Genetics Home Reference, 43NIH Rare Diseases, 47OMIM, 19GeneReviews, 33MalaCards
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NIH Rare Diseases:43 Leber congenital amaurosis is an eye disorder that primarily affects the retina. people with this condition typically have severe visual impairment beginning in infancy. other features include photophobia, involuntary movements of the eyes (nystagmus), and extreme farsightedness. the pupils also do not react normally to light. additionally, the the cornea may be cone-shaped and abnormally thin (keratoconus). franceschetti's oculo-digital sign is characteristic of leber congenital amaurosis. this sign consists of poking, pressing, and rubbing the eyes with a knuckle or finger. at least 13 types of this condition have been described, which are distinguished by their genetic cause, patterns of vision loss, and related eye abnormalities. last updated: 7/24/2012

MalaCards: Leber Congenital Amaurosis, also known as leber congenital amaurosis 14, is related to rhyns syndrome and blindness, and has symptoms including retinal vascular anomalies/retinal telangiectasia, retinitis pigmentosa/retinal pigmentary changes and optic nerve anomaly/optic atrophy/anomaly of the papilla. An important gene associated with Leber Congenital Amaurosis is RDH12 (retinol dehydrogenase 12 (all-trans/9-cis/11-cis)), and among its related pathways are Signaling by GPCR and Visual phototransduction. The compounds vitamin a and 11-cis-retinol have been mentioned in the context of this disorder. Affiliated tissues include brain, retina and fetal brain, and related mouse phenotypes are nervous system and vision/eye.

Disease Ontology:8 An eye disease that is characterized by nystagmus, sluggish or no pupillary responses, and severe vision loss or blindness.

Genetics Home Reference:21 Leber congenital amaurosis is an eye disorder that primarily affects the retina, which is the specialized tissue at the back of the eye that detects light and color. People with this disorder typically have severe visual impairment beginning in infancy. The visual impairment tends to be stable, although it may worsen very slowly over time.

Description from OMIM:47 204100, 204000, 610142, 611755, 612712 604537, 604393, 604232, 613341, 610612, 613428, 613464, 613575, 613581, 613582, 613617, 613731, 613750, 613756, 613758, 613767, 613769, 613794, 613801, 613809, 613810, 613827, 613861, 613862, 613983, 614180, 614181, 614494, 600132, 600138, 600852, 601414, 601718, 602594, 602772, 606068, 607921, 608133, 608380, 609913, 609923, 610282, 610359, 610599, 611131, 612095, 612165, 612572, 612943, 613194, 180100, 180104, 180105, 180210, 268000, 268025, 268060, 300029, 300155, 300424, 300605, 312600, 312612, 400004, 600059, 600105, 614500, 615233, 613660, 615434 more

GeneReviews summary for lca

Aliases & Classifications for Leber Congenital Amaurosis

Sources:
8Disease Ontology, 19GeneReviews, 43NIH Rare Diseases, 21Genetics Home Reference, 10DISEASES, 61UMLS, 20GeneTests, 49Orphanet, 9diseasecard, 22GTR, 47OMIM, 45Novoseek, 57SNOMED-CT, 35MeSH, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Eye, Neuronal


Characteristics (Orphanet epidemiological data):

49
retinitis pigmentosa:
Inheritance: Autosomal dominant,Autosomal recessive,Mitochondrial inheritance,X-linked recessive; Prevalence: 1-5/10000; Age of onset: Variable; Age of death: Normal


Aliases & Descriptions:

leber congenital amaurosis 8 19 43 21 10 61
leber congenital amaurosis 14 9 43 22 47 61
leber congenital amaurosis 13 9 43 22 47 61
leber's amaurosis 8 43 21
lca 19 43 21
congenital retinal blindness 43 21
leber's congenital amaurosis 8 20
retinitis pigmentosa 49 61
leber's congenital tapetoretinal degeneration 43
leber congenital tapetoretinal degeneration 21
hereditary epithelial dysplasia of retina 21
congenital absence of the rods and cones 43
congenital amaurosis of retinal origin 21
dysgenesis neuroepithelialis retinae 21
amaurosis congenita of leber, type 1 61
leber congenital amaurosis type 13 8
leber congenital amaurosis type 14 8
heredoretinopathia congenitalis 21
amaurosis congenita of leber i 8
lebers congenital amaurosis 45
amaurosis, leber congenital 21
hereditary retinal aplasia 21
leber abiotrophy 21
leber's disease 8
lca14 43
lca13 43
crb 21


Related Diseases for Leber Congenital Amaurosis

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the Leber Congenital Amaurosis family:

leber congenital amaurosis 1 leber congenital amaurosis 10
leber congenital amaurosis 11 leber congenital amaurosis 12
leber congenital amaurosis 2 leber congenital amaurosis 3
leber congenital amaurosis 4 leber congenital amaurosis 5
leber congenital amaurosis 9 leber congenital amaurosis 15
leber congenital amaurosis 16 leber congenital amaurosis 6
leber congenital amaurosis 7 leber congenital amaurosis 8
rd3-related leber congenital amaurosis leber congenital amaurosis 17

Diseases related to Leber Congenital Amaurosis via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 475)
idRelated DiseaseScoreTop Affiliating Genes
1rhyns syndrome30.9RGR, LRAT, IMPDH1, AIPL1, NRL, PRPH2
2blindness30.7AIPL1, NRL, RHO, CRX, CRB1, PDE6B
3stargardt disease30.3RHO, CRX
4congenital stationary night blindness30.3RHO, PDE6B, RPE65
5cone-rod dystrophy 230.2AIPL1, PRPH2, RHO, CRX, GUCA1B, TULP1
6fundus albipunctatus30.2PRPH2, RHO
7retinitis pigmentosa10.8
8leber congenital amaurosis 110.7
9leber congenital amaurosis 210.7
10leber congenital amaurosis 310.7
11cystoid macular edema10.7
12leber congenital amaurosis 410.7
13leber congenital amaurosis 610.7
14leber congenital amaurosis 1110.7
15leber congenital amaurosis 910.7
16leber congenital amaurosis 1510.7
17neuropathy ataxia retinitis pigmentosa syndrome10.6
18leber congenital amaurosis 1010.6
19leber congenital amaurosis 1210.6
20leber congenital amaurosis 510.6
21leber congenital amaurosis 710.6
22leber congenital amaurosis 810.6
23ataxia10.6
24gucy2d-related leber congenital amaurosis10.6
25leber congenital amaurosis 1710.6
26retinitis pigmentosa autosomal recessive10.6
27posterior column ataxia with retinitis pigmentosa10.5
28leber congenital amaurosis 1610.5
29retinal dystrophy, early-onset, severe10.5
30rpe65-related leber congenital amaurosis10.5
31retinitis pigmentosa 1710.5
32retinitis pigmentosa 1910.5
33macular dystrophy10.5
34aipl1-related leber congenital amaurosis10.5
35nmnat1-related leber congenital amaurosis10.5
36cep290-related leber congenital amaurosis10.5
37autosomal dominant disease10.4
38autosomal recessive disease10.4
39posterior column ataxia10.4
40retinitis pigmentosa, digenic10.4
41usher syndrome type i10.4
42retinitis pigmentosa 310.4
43muscular atrophy ataxia retinitis pigmentosa and diabetes mellitus10.4
44retinitis pigmentosa 1110.4
45x-linked intellectual disability-retinitis pigmentosa syndrome10.4
46n syndrome10.4
47cone dystrophy10.4
48rdh12-related leber congenital amaurosis10.4
49lca5-related leber congenital amaurosis10.4
50rpgrip1-related leber congenital amaurosis10.4

Graphical network of the top 20 diseases related to Leber Congenital Amaurosis:



Diseases related to leber congenital amaurosis

Clinical Features for Leber Congenital Amaurosis

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

204100, 204000, 610142, 611755, 612712, 604537, 604393, 604232, 613341, 610612 613428, 613464, 613575, 613581, 613582, 613617, 613731, 613750, 613756, 613758, 613767, 613769, 613794, 613801, 613809, 613810, 613827, 613861, 613862, 613983, 614180, 614181, 614494, 600132, 600138, 600852, 601414, 601718, 602594, 602772, 606068, 607921, 608133, 608380, 609913, 609923, 610282, 610359, 610599, 611131, 612095, 612165, 612572, 612943, 613194, 180100, 180104, 180105, 180210, 268000, 268025, 268060, 300029, 300155, 300424, 300605, 312600, 312612, 400004, 600059, 600105, 614500, 615233, 613660, 615434 more

Clinical synopsis from OMIM:

612712

Symptoms:

49 (show all 29)
  • retinal vascular anomalies/retinal telangiectasia
  • retinitis pigmentosa/retinal pigmentary changes
  • optic nerve anomaly/optic atrophy/anomaly of the papilla
  • visual loss/blindness/amblyopia
  • night blindness/hemeralopia
  • mild visual loss/impaired visual acuity
  • photophobia
  • abnormal erg/electroretinogram/electroretinography
  • nystagmus
  • broad nasal root
  • anteverted nares/nostrils
  • sensorineural deafness/hearing loss
  • conductive deafness/hearing loss
  • abnormal scarring/cheloids/hypertrophic scars
  • micropenis/small penis/agenesis
  • small/atrophic/hypoplastic testes/monorchism/microorchidism/anorchia
  • late puberty/hypogonadism/hypogenitalism
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • autosomal dominant inheritance
  • autosomal recessive inheritance
  • x-linked recessive inheritance
  • glaucoma
  • keratoconus/keratoglobus
  • cataract/lens opacification
  • ophthalmoplegia/ophthalmoparesis/oculomotor palsy
  • hyperinsulinism/hyperinsulinemia
  • generalized obesity
  • insulin-independent/type 2 diabetes
  • hypereflexia

Drugs & Therapeutics for Leber Congenital Amaurosis

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Leber Congenital Amaurosis

Drug clinical trials:

Search ClinicalTrials for Leber Congenital Amaurosis

Search NIH Clinical Center for Leber Congenital Amaurosis

Search CenterWatch for Leber Congenital Amaurosis

Genetic Tests for Leber Congenital Amaurosis

Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Leber Congenital Amaurosis:

id Genetic test Affiliating Genes
1 Leber Congenital Amaurosis20 TULP1
2 Leber Congenital Amaurosis Multi-gene Panels20
3 Leber Congenital Amaurosis 1422
4 Leber Congenital Amaurosis 1322

Anatomical Context for Leber Congenital Amaurosis

Sources:
31LifeMap Discovery™, 33MalaCards
See all sources

MalaCards organs/tissues related to Leber Congenital Amaurosis:

33
Brain, Retina, Fetal brain, Pineal

LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine

Cells/anatomical compartments in embryo or adult related to Leber Congenital Amaurosis:
id TissueAnatomical CompartmentCell Relevance
1 EyeRetinal Pigmented EpitheliumMature Retinal Pigmented Epithelium Cells Potential therapeutic candidate, affected by disease
2 EyeRetinal Pigmented EpitheliumRetinal Pigmented Epithelium Progenitor Cells Potential therapeutic candidate, affected by disease

Animal Models for Leber Congenital Amaurosis or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Leber Congenital Amaurosis:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000363110.6RDH12, PDE6B, PDE6G, TULP1, RPGR, CRB1
2MP:000539110.5BEST1, RPE65, RPGR, TULP1, PDE6G, PDE6B
3MP:000118610.2RPE65, TULP1, PDE6B, CRB1, CRX, MERTK

Publications for Leber Congenital Amaurosis

Sources:
51PubMed
See all sources

Articles related to Leber Congenital Amaurosis:

(show top 50)    (show all 263)
idTitleAuthorsYear
1
Unexpected CEP290 mRNA Splicing in a Humanized Knock-In Mouse Model for Leber Congenital Amaurosis. (24223178)
2013
2
Targeted ablation of crb1 and crb2 in retinal progenitor cells mimics leber congenital amaurosis. (24339791)
2013
3
Three-year follow-up after unilateral subretinal delivery of adeno-associated virus in patients with Leber congenital Amaurosis type 2. (23474247)
2013
4
AON-mediated Exon Skipping Restores Ciliation in Fibroblasts Harboring the Common Leber Congenital Amaurosis CEP290 Mutation. (23344081)
2012
5
Exome sequencing identifies NMNAT1 mutations as a cause of Leber congenital amaurosis. (22842231)
2012
6
Leber congenital amaurosis associated with AIPL1: challenges in ascribing disease causation, clinical findings, and implications for gene therapy. (22412862)
2012
7
Mpdz null allele in an avian model of retinal degeneration and mutations in human leber congenital amaurosis and retinitis pigmentosa. (21862650)
2011
8
Gene therapy using self-complementary Y733F capsid mutant AAV2/8 restores vision in a model of early onset Leber congenital amaurosis. (21880665)
2011
9
Cone opsin determines the time course of cone photoreceptor degeneration in Leber congenital amaurosis. (21555576)
2011
10
Whole-exome sequencing identifies ALMS1, IQCB1, CNGA3, and MYO7A mutations in patients with Leber congenital amaurosis. (21901789)
2011
11
Disruption of intraflagellar protein transport in photoreceptor cilia causes Leber congenital amaurosis in humans and mice. (21606596)
2011
12
The Marshall M. Parks memorial lecture: making sense of early-onset childhood retinal dystrophies--the clinical phenotype of Leber congenital amaurosis. (19825837)
2010
13
Novel RDH12 sequence variations in Leber congenital amaurosis. (20736127)
2010
14
Leber congenital amaurosis: clinical correlations with genotypes, gene therapy trials update, and future directions. (20006823)
2009
15
Novel human pathological mutations. Gene symbol: GUCY2D. Disease: Leber congenital amaurosis. (19320033)
2009
16
Mutations in SPATA7 cause Leber congenital amaurosis and juvenile retinitis pigmentosa. (19268277)
2009
17
Molecular characterization of Leber congenital amaurosis in Koreans. (18682808)
2008
18
Effect of gene therapy on visual function in Leber's congenital amaurosis. (18441371)
2008
19
Leber congenital amaurosis - a model for efficient genetic testing of heterogeneous disorders: LXIV Edward Jackson Memorial Lecture. (17964524)
2007
20
Electroretinographic analyses of Rpe65-mutant rd12 mice: developing an in vivo bioassay for human gene therapy trials of Leber congenital amaurosis. (17960108)
2007
21
Genetic screening of leber congenital amaurosis in a large consanguineous Iranian family. (18161624)
2007
22
Disease-associated variants of the rod-derived cone viability factor (RdCVF) in Leber congenital amaurosis. Rod-derived cone viability variants in LCA. (17249548)
2006
23
Gene symbol: CRB1. Disease: Leber congenital amaurosis. Accession #Hm0534. (17297689)
2006
24
From gene to disease; Leber congenital amaurosis (LCA)]. (16261712)
2005
25
Limited proteolysis differentially modulates the stability and subcellular localization of domains of RPGRIP1 that are distinctly affected by mutations in Leber's congenital amaurosis. (15800011)
2005
26
Towards improved clinical characterization of Leber congenital amaurosis: neurological and systemic findings. (15580639)
2005
27
Retinal degeneration 12 (rd12): a new, spontaneously arising mouse model for human Leber congenital amaurosis (LCA). (15765048)
2005
28
Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype- phenotype correlations as a strategy for molecular diagnosis. (15024725)
2004
29
Leber congenital amaurosis: a genetic paradigm. (15370538)
2004
30
A missense mutation in GUCY2D acts as a genetic modifier in RPE65-related Leber Congenital Amaurosis. (15512997)
2004
31
Mutation screening of patients with Leber Congenital Amaurosis or the enhanced S-Cone Syndrome reveals a lack of sequence variations in the NRL gene. (12552256)
2003
32
Analysis of three genes in Leber congenital amaurosis in Indonesian patients. (14611946)
2003
33
AIPL1, a protein implicated in Leber's congenital amaurosis, interacts with and aids in processing of farnesylated proteins. (14555765)
2003
34
Evidence of autosomal dominant Leber congenital amaurosis (LCA) underlain by a CRX heterozygous null allele. (12843339)
2003
35
The Leber congenital amaurosis gene product AIPL1 is localized exclusively in rod photoreceptors of the adult human retina. (11929855)
2002
36
Molecular genetics of Leber congenital amaurosis. (12015276)
2002
37
Electroretinographic abnormalities in parents of patients with Leber congenital amaurosis who have heterozygous GUCY2D mutations. (12365911)
2002
38
Mutations in the CRB1 gene cause Leber congenital amaurosis. (11231775)
2001
39
Complete abolition of the retinal-specific guanylyl cyclase (retGC-1) catalytic ability consistently leads to leber congenital amaurosis (LCA). (11328726)
2001
40
Null RPGRIP1 alleles in patients with Leber congenital amaurosis. (11283794)
2001
41
Screening for CRX gene mutations in Chinese patients with Leber congenital amaurosis and mutational phenotype. (11449318)
2001
42
A CRX null mutation is associated with both Leber congenital amaurosis and a normal ocular phenotype. (10892846)
2000
43
Mutations in a new photoreceptor-pineal gene on 17p cause leber congenital amaurosis. Nat gen 2000;24:79-83 (10927016)
2000
44
Mutation analysis of 3 genes in patients with Leber congenital amaurosis. (10766140)
2000
45
Leber congenital amaurosis caused by a homozygous mutation (R90W) in the homeodomain of the retinal transcription factor CRX: direct evidence for the involvement of CRX in the development of photoreceptor function. (9931337)
1999
46
A novel locus for Leber congenital amaurosis on chromosome 14q24. (9799089)
1998
47
Mutations in RPE65 cause Leber's congenital amaurosis. (9326927)
1997
48
New autosomal-recessive syndrome of Leber congenital amaurosis, short stature, growth hormone insufficiency, mental retardation, hepatic dysfunction, and metabolic acidosis. (9268092)
1997
49
Hyperopia in complicated Leber's congenital amaurosis. (2334331)
1990
50
Leber's congenital amaurosis with associated nephronophthisis. (7391908)
1980

Genetic Variations for Leber Congenital Amaurosis

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Leber Congenital Amaurosis:

63
id Symbol AA change Variation SNP ID
1RDH12p.Thr49MetVAR_020858rs28940314
2RDH12p.Ile51AsnVAR_020859
3RDH12p.Leu99IleVAR_020860rs28940315
4RDH12p.His151AspVAR_020861
5RDH12p.His151AsnVAR_020862
6RDH12p.Ser175ProVAR_020863
7RDH12p.Tyr226CysVAR_020864rs28940313
8RDH12p.Pro230AlaVAR_020865
9RDH12p.Gly76ArgVAR_064166
10RDH12p.Ala126ValVAR_064169

Expression for genes affiliated with Leber Congenital Amaurosis

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Leber Congenital Amaurosis

Search GEO for disease gene expression data for Leber Congenital Amaurosis.

Pathways for genes affiliated with Leber Congenital Amaurosis

Sources:
54Reactome, 52QIAGEN, 38NCBI BioSystems Database, 30KEGG, 12EMD Millipore
See all sources

Compounds for genes affiliated with Leber Congenital Amaurosis

Sources:
45Novoseek, 11DrugBank, 24HMDB, 29IUPHAR, 60Tocris Bioscience
See all sources

Compounds related to Leber Congenital Amaurosis according to GeneCards/GeneDecks:

(show all 11)
idCompoundScoreTop Affiliating Genes
1vitamin a45 11 2412.8RPE65, RDH12, RHO, AIPL1, LRAT, RGR
211-cis-retinol45 2411.7RGR, LRAT, RHO, RPE65
3retinoid4510.7RPE65, CRX, RHO, LRAT, RGR
4cgmp45 2911.7RPGR, PDE6B, GUCA1B, RHO
5retinyl ester45 2411.7LRAT, RPE65
6guanylate4510.6GUCA1B, CRB1, RHO
7sildenafil citrate6010.5PDE6G, PDE6B
8leucine4510.5NRL, RHO, CRX, PDE6B
9cilostamide60 45 2912.5PDE6G, PDE6B
10(r)-(-)-rolipram6010.4PDE6G, PDE6B
11isotretinoin45 1111.2LRAT, RHO

GO Terms for genes affiliated with Leber Congenital Amaurosis

Sources:
16Gene Ontology
See all sources

Cellular components related to Leber Congenital Amaurosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1photoreceptor disc membraneGO:09738110.6RHO, GUCA1B, PDE6B, PDE6G
2photoreceptor outer segmentGO:00175010.5RPGR, TULP1, MERTK, RHO
3photoreceptor outer segment membraneGO:04262210.5CDHR1, RHO
4photoreceptor inner segmentGO:00191710.4AIPL1, RHO, TULP1
5photoreceptor inner segment membraneGO:06034210.2RHO, RDH12

Biological processes related to Leber Congenital Amaurosis according to GeneCards/GeneDecks:

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1visual perceptionGO:00760110.9BEST1, RPE65, RPGR, TULP1, PDE6G, PDE6B
2phototransduction, visible lightGO:00760310.8RPE65, PDE6G, PDE6B, RDH12, GUCA1B, RHO
3retina development in camera-type eyeGO:06004110.8TULP1, PDE6B, CRX, MERTK, RHO, PRPH2
4regulation of rhodopsin mediated signaling pathwayGO:02240010.8PDE6G, PDE6B, GUCA1B, RHO
5response to stimulusGO:05089610.8RPGR, CRX, NRL, SPATA7
6retinoid metabolic processGO:00152310.7RPE65, RDH12, RHO, LRAT
7rhodopsin mediated signaling pathwayGO:01605610.7RHO, GUCA1B, PDE6B, PDE6G
8eye photoreceptor cell developmentGO:04246210.7CRB1, TULP1, RPGR
9photoreceptor cell maintenanceGO:04549410.7TULP1, RDH12, CDHR1
10regulation of rhodopsin gene expressionGO:00746810.6NRL, RPE65
11vitamin A metabolic processGO:00677610.6LRAT, RPE65
12protein-chromophore linkageGO:01829810.5RGR, RHO
13retinol metabolic processGO:04257210.5RDH12, LRAT
14phagocytosisGO:00690910.5MERTK, TULP1
15phototransductionGO:00760210.4RGR, TULP1
16positive regulation of phagocytosisGO:05076610.2MERTK, TULP1

Molecular functions related to Leber Congenital Amaurosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
13,5-cyclic-GMP phosphodiesterase activityGO:04755510.5PDE6B, PDE6G
2photoreceptor activityGO:00988110.4RGR, RHO
3leucine zipper domain bindingGO:04352210.2NRL, CRX

Products for genes affiliated with Leber Congenital Amaurosis

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Sources for Leber Congenital Amaurosis

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet