MCID: OCL002
MIFTS: 55

Oculocutaneous Albinism

Categories: Rare diseases, Genetic diseases, Eye diseases, Skin diseases, Metabolic diseases

Aliases & Classifications for Oculocutaneous Albinism

Summaries for Oculocutaneous Albinism

Genetics Home Reference : 25 Oculocutaneous albinism is a group of conditions that affect coloring (pigmentation) of the skin, hair, and eyes. Affected individuals typically have very fair skin and white or light-colored hair. Long-term sun exposure greatly increases the risk of skin damage and skin cancers, including an aggressive form of skin cancer called melanoma, in people with this condition. Oculocutaneous albinism also reduces pigmentation of the colored part of the eye (the iris) and the light-sensitive tissue at the back of the eye (the retina). People with this condition usually have vision problems such as reduced sharpness; rapid, involuntary eye movements (nystagmus); and increased sensitivity to light (photophobia).

MalaCards based summary : Oculocutaneous Albinism, also known as albinism, oculocutaneous, is related to chediak-higashi syndrome and albinism, oculocutaneous, type ia, and has symptoms including visual impairment, nystagmus and strabismus. An important gene associated with Oculocutaneous Albinism is TYR (Tyrosinase), and among its related pathways/superpathways is Melanin biosynthesis. The drugs Carbidopa and Dopamine have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and retina, and related phenotypes are growth/size/body region and behavior/neurological

NIH Rare Diseases : 50 oculocutaneous albinism is a group of conditions that affect the coloring of the hair and eyes.  individuals affected by oculocutaneous albinism have very light skin and light-colored irises; they may also have vision problems such as decreased sharpness of vision, rapid eye movements (nystagmus), crossed eyes (strabismus), or increased sensitivity to light (photophobia).  all types of oculocutaneous albinism are caused by genemutations that are inherited in an autosomal recessive manner.  treatment includes covering the skin from sun exposure by using sunscreen and protective clothing and attending to vision problems by wearing glasses. last updated: 10/17/2012

Disease Ontology : 12 An autosomal recessive disease characterized by abnormal pigmentation of the skin, hair and eyes.

Wikipedia : 72 Oculocutaneous albinism (OCA) is a form of albinism involving the eyes (oculo-), the skin (-cutaneous),... more...

Related Diseases for Oculocutaneous Albinism

Diseases in the Oculocutaneous Albinism family:

Albinism, Oculocutaneous, Type V Albinism, Oculocutaneous, Type Iv
Albinism, Oculocutaneous, Type Iii Albinism, Oculocutaneous, Type Vii
Albinism, Oculocutaneous, Type Ia Albinism, Oculocutaneous, Type Ib
Albinism, Oculocutaneous, Type Ii Albinism, Oculocutaneous, Type Vi

Diseases related to Oculocutaneous Albinism via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 88)
id Related Disease Score Top Affiliating Genes
1 chediak-higashi syndrome 32.9 TYR TYRP1
2 albinism, oculocutaneous, type ia 12.0
3 albinism, oculocutaneous, type ii 12.0
4 minimal pigment oculocutaneous albinism type 1 12.0
5 albinism, oculocutaneous, type iii 11.9
6 albinism, oculocutaneous, type ib 11.9
7 brown oca 11.8
8 albinism, oculocutaneous, type vi 11.8
9 hermansky-pudlak syndrome 2 11.7
10 albinism, oculocutaneous, type v 11.6
11 hermansky-pudlak syndrome 11.6
12 albinism, oculocutaneous, type iv 11.4
13 ocular albinism 11.3
14 albinism, oculocutaneous, type vii 11.2
15 albinism 11.1
16 hermansky-pudlak syndrome 10 11.1
17 hermansky-pudlak syndrome 4 11.1
18 hermansky-pudlak syndrome 1 11.1
19 hermansky-pudlak syndrome 5 11.1
20 albinism, minimal pigment type 11.0
21 kotzot-richter syndrome 11.0
22 hermansky-pudlak syndrome 7 11.0
23 hermansky-pudlak syndrome 8 11.0
24 hermansky-pudlak syndrome 6 11.0
25 albinism-microcephaly-digital anomalies syndrome 11.0
26 hermansky-pudlak syndrome 3 11.0
27 hermansky-pudlak syndrome 9 11.0
28 prostate cancer, hereditary, 7 10.4 OCA2 TYRP1
29 melanoma 10.4
30 malignant breast melanoma 10.4 TYR TYRP1
31 oral mucosa leukoplakia 10.3 OCA2 TYR
32 epidermolysis bullosa simplex-mcr 10.3 TYR TYRP1
33 small intestine diverticulitis 10.3 OCA2 TYR
34 autoinflammation with arthritis and dyskeratosis 10.2 TYR TYRP1
35 rh deficiency syndrome 10.2 OCA2 SLC45A2 TYR
36 choroiditis 10.2
37 amelanotic melanoma 10.2
38 dyschromatosis symmetrica hereditaria 10.2 OCA2 TYR TYRP1
39 squamous cell carcinoma 10.1
40 basal cell carcinoma 10.0
41 schizophrenia 10.0
42 cataract 10.0
43 prader-willi syndrome 10.0
44 angelman syndrome 10.0
45 keratoconus 10.0
46 pulmonary fibrosis 10.0
47 paraparetic variant of guillain-barré syndrome 10.0 HPS3 HPS6
48 anterior corneal pigmentation 9.9 TYR TYRP1
49 alpha-methylacyl-coa racemase deficiency 9.8
50 actinic keratosis 9.8

Graphical network of the top 20 diseases related to Oculocutaneous Albinism:



Diseases related to Oculocutaneous Albinism

Symptoms & Phenotypes for Oculocutaneous Albinism

Human phenotypes related to Oculocutaneous Albinism:

32 (show all 16)
id Description HPO Frequency HPO Source Accession
1 visual impairment 32 frequent (33%) HP:0000505
2 nystagmus 32 hallmark (90%) HP:0000639
3 strabismus 32 frequent (33%) HP:0000486
4 myopia 32 frequent (33%) HP:0000545
5 basal cell carcinoma 32 occasional (7.5%) HP:0002671
6 photophobia 32 frequent (33%) HP:0000613
7 astigmatism 32 frequent (33%) HP:0000483
8 melanoma 32 occasional (7.5%) HP:0002861
9 white eyelashes 32 frequent (33%) HP:0002227
10 squamous cell carcinoma of the skin 32 occasional (7.5%) HP:0006739
11 white hair 32 hallmark (90%) HP:0011364
12 cutaneous photosensitivity 32 hallmark (90%) HP:0000992
13 generalized hypopigmentation 32 hallmark (90%) HP:0007513
14 high-grade hypermetropia 32 frequent (33%) HP:0008499
15 iris hypopigmentation 32 hallmark (90%) HP:0007730
16 hypoplasia of the fovea 32 frequent (33%) HP:0007750

MGI Mouse Phenotypes related to Oculocutaneous Albinism:

44 (show all 11)
id Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.11 AP3B1 BLOC1S3 HPS4 HPS6 OCA2 SLC24A5
2 behavior/neurological MP:0005386 10.1 AP3B1 BLOC1S3 LRMDA OCA2 SLC24A5 SLC45A2
3 craniofacial MP:0005382 10.08 AP3B1 BLOC1S3 HPS4 HPS6 OCA2 SLC24A5
4 homeostasis/metabolism MP:0005376 10.07 AP3B1 HPS3 HPS4 HPS6 LRMDA OCA2
5 hearing/vestibular/ear MP:0005377 10.03 TYRP1 AP3B1 BLOC1S3 HPS4 HPS6 OCA2
6 integument MP:0010771 9.96 AP3B1 BLOC1S3 HPS3 HPS4 HPS6 OCA2
7 hematopoietic system MP:0005397 9.88 AP3B1 BLOC1S3 HPS3 HPS4 HPS6 OCA2
8 pigmentation MP:0001186 9.85 TYRP1 AP3B1 BLOC1S3 HPS3 HPS4 HPS6
9 immune system MP:0005387 9.8 AP3B1 BLOC1S3 HPS3 HPS6 OCA2 TYR
10 renal/urinary system MP:0005367 9.35 AP3B1 HPS4 HPS6 OCA2 TYR
11 vision/eye MP:0005391 9.32 AP3B1 BLOC1S3 HPS3 HPS4 HPS6 OCA2

Drugs & Therapeutics for Oculocutaneous Albinism

Drugs for Oculocutaneous Albinism (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 52)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Carbidopa Approved Phase 2 28860-95-9 34359 38101
2
Dopamine Approved Phase 2 51-61-6, 62-31-7 681
3
Levodopa Approved Phase 2 59-92-7 6047
4
Nitisinone Approved, Investigational Phase 1, Phase 2 104206-65-7 115355
5
Acetylcysteine Approved, Investigational Phase 1, Phase 2 616-91-1 12035
6
Erythromycin Approved, Vet_approved Phase 1, Phase 2 114-07-8 12560
7
Losartan Approved Phase 1, Phase 2 114798-26-4 3961
8
Pravastatin Approved Phase 1, Phase 2 81093-37-0 54687
9
Pirfenidone Investigational Phase 2 53179-13-8 40632
10
Angiotensin II Investigational Phase 1, Phase 2 68521-88-0, 4474-91-3, 11128-99-7 172198 65143
11 Antiparkinson Agents Phase 2
12 Aromatic Amino Acid Decarboxylase Inhibitors Phase 2
13 Autonomic Agents Phase 2
14 Carbidopa, levodopa drug combination Phase 2
15 Dopamine Agents Phase 2
16 Neurotransmitter Agents Phase 2
17 Peripheral Nervous System Agents Phase 2,Phase 1
18 Protective Agents Phase 2,Phase 1
19 Analgesics Phase 2,Phase 1
20 Analgesics, Non-Narcotic Phase 2,Phase 1
21 Anti-Inflammatory Agents Phase 2,Phase 1
22 Anti-Inflammatory Agents, Non-Steroidal Phase 2,Phase 1
23 Antirheumatic Agents Phase 2,Phase 1
24 Angiotensin II Type 1 Receptor Blockers Phase 1, Phase 2
25 Angiotensin Receptor Antagonists Phase 1, Phase 2
26 Angiotensinogen Phase 1, Phase 2
27 Anti-Arrhythmia Agents Phase 1, Phase 2
28 Anti-Bacterial Agents Phase 1, Phase 2
29 Anticholesteremic Agents Phase 1, Phase 2
30 Antidotes Phase 1, Phase 2
31 Antihypertensive Agents Phase 1, Phase 2
32 Anti-Infective Agents Phase 1, Phase 2
33 Antimetabolites Phase 1, Phase 2
34 Antioxidants Phase 1, Phase 2
35 Antiviral Agents Phase 1, Phase 2
36 Erythromycin Estolate Phase 1, Phase 2
37 Erythromycin Ethylsuccinate Phase 1, Phase 2
38 Erythromycin stearate Phase 1, Phase 2
39 Expectorants Phase 1, Phase 2
40 Gastrointestinal Agents Phase 1, Phase 2
41 Hormone Antagonists Phase 1, Phase 2
42 Hormones Phase 1, Phase 2
43 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 1, Phase 2
44 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 1, Phase 2
45 Hypolipidemic Agents Phase 1, Phase 2
46 Leukotriene Antagonists Phase 1, Phase 2
47 Lipid Regulating Agents Phase 1, Phase 2
48 Lipoxygenase Inhibitors Phase 1, Phase 2
49 N-monoacetylcystine Phase 1, Phase 2
50 Pharmaceutical Solutions Phase 1, Phase 2

Interventional clinical trials:

(show all 12)

id Name Status NCT ID Phase Drugs
1 Vision Response to Dopamine Replacement Recruiting NCT01663935 Phase 2 Levodopa/carbidopa
2 Nitisinone for Type 1B Oculocutaneous Albinism Active, not recruiting NCT01838655 Phase 1, Phase 2 Nitisinone (NTBC)
3 Oral Pirfenidone for the Pulmonary Fibrosis of Hermansky-Pudlak Syndrome Active, not recruiting NCT00001596 Phase 2 Pirfenidone;Placebo
4 Pilot Study of a Multi-Drug Regimen for Severe Pulmonary Fibrosis in Hermansky-Pudlak Syndrome Terminated NCT00467831 Phase 1, Phase 2 Losartan;Zileuton;N-Acetylcysteine;Pravastatin;Erythromycin
5 Medical Treatment of Colitis in Patients With Hermansky-Pudlak Syndrome Withdrawn NCT00514982 Phase 2 Mesalamine;Infliximab;Corticosteroids;6-Mercaptopurine;Tacrolimus;Adalimumab
6 Visual Function and Ocular Pigmentation in Albinism Completed NCT00001153
7 Clinical, Cellular, and Molecular Investigation Into Oculocutaneous Albinism Recruiting NCT00808106
8 The Effects of Lutein and Zeaxanthin Supplementation on Vision in Patients With Albinism Recruiting NCT02200263
9 A Longitudinal Study of Hermansky-Pudlak Syndrome Pulmonary Fibrosis Recruiting NCT02368340
10 Clinical and Basic Investigations Into Hermansky-Pudlak Syndrome Recruiting NCT00001456
11 Study of Chediak-Higashi Syndrome Recruiting NCT00005917
12 Clinical and Basic Investigations Into Erdheim Chester Disease Recruiting NCT01417520

Search NIH Clinical Center for Oculocutaneous Albinism

Genetic Tests for Oculocutaneous Albinism

Genetic tests related to Oculocutaneous Albinism:

id Genetic test Affiliating Genes
1 Oculocutaneous Albinism 29

Anatomical Context for Oculocutaneous Albinism

MalaCards organs/tissues related to Oculocutaneous Albinism:

39
Skin, Eye, Retina, Testes, Nk Cells, Bone

Publications for Oculocutaneous Albinism

Articles related to Oculocutaneous Albinism:

(show top 50) (show all 377)
id Title Authors Year
1
A single base deletion in the SLC45A2 gene in a Bullmastiff with oculocutaneous albinism. ( 28737247 )
2017
2
Identification of a missense mutation in the tyrosinase gene in a Chinese family with oculocutaneous albinism type 1. ( 28112372 )
2017
3
A Japanese Family With Autosomal Dominant Oculocutaneous Albinism Type 4. ( 28192564 )
2017
4
Retrospective analysis in oculocutaneous albinism patients for the 2.7A kb deletion in the OCA2 gene revealed a co-segregation of the controversial variant, p.R305W. ( 28451379 )
2017
5
Amelanotic melanoma in oculocutaneous albinism: a genetic, dermoscopic and reflectance confocal microscopy study. ( 28555837 )
2017
6
Proposal for management and dermoscopy follow-up of nevi in patients affected by oculocutaneous albinism type Ia. ( 28243493 )
2017
7
Molecular outcomes, clinical consequences, and genetic diagnosis of Oculocutaneous Albinism in Pakistani population. ( 28266639 )
2017
8
Multiple Basal Cell Carcinomas in a Patient of Oculocutaneous Albinism. ( 28405556 )
2017
9
Sequence-Based Mapping and Genome Editing Reveal Mutations in Stickleback Hps5 Cause Oculocutaneous Albinism and the casper Phenotype. ( 28739598 )
2017
10
Comment on homozygosity mapping of a consanguineous Pakistani family affected with oculocutaneous albinism to Tyrosinase gene. ( 28546946 )
2017
11
[Diagnosis of a case with oculocutaneous albinism type a8c with next generation exome capture sequencing]. ( 28186599 )
2017
12
Ophthalmo-genetic analysis of Pakistani patients with nonsyndromic oculocutaneous albinism through whole exome sequencing. ( 28507374 )
2017
13
Identification of a functionally significant tri-allelic genotype in the Tyrosinase gene (TYR) causing hypomorphic oculocutaneous albinism (OCA1B). ( 28667292 )
2017
14
Dome-shaped macula in oculocutaneous albinism. ( 27118754 )
2016
15
Femtosecond laser-assisted keratoplasty combined with cataract extraction in a patient with keratoconus and oculocutaneous albinism. ( 27146942 )
2016
16
Melanotic Malignant Melanoma in Oculocutaneous Albinism Type 4. ( 27350326 )
2016
17
PARTIAL OCULOCUTANEOUS ALBINISM AND IMMUNODEFICIENCY SYNDROMES: TEN YEARS EXPERIENCE FROM A SINGLE CENTER IN TURKEY. ( 27192893 )
2016
18
A Functional Study of Mutations in K+-dependent Na+-Ca2+ Exchangers Associated with Amelogenesis Imperfecta and Non-syndromic Oculocutaneous Albinism. ( 27129268 )
2016
19
Cutaneous freckling: Possible new clinical marker for the diagnosis of Hermansky-Pudlak syndrome in Indian Asian patients with oculocutaneous albinism. ( 27176668 )
2016
20
Identification of a novel mutation in HPS6 in a patient with hemophilia B and oculocutaneous albinism. ( 27641950 )
2016
21
Population data of 13 nonCODIS STR markers located inside the 6 nonsyndromic oculocutaneous albinism genes. ( 26932870 )
2016
22
Phacoemulsification and intraocular lens implantation in patients with oculocutaneous albinism. ( 27058854 )
2016
23
Oculocutaneous Albinism Type 1: Link between Mutations, Tyrosinase Conformational Stability, and Enzymatic Activity. ( 27775880 )
2016
24
Homozygosity mapping of a consanguineous Pakistani family affected with oculocutaneous albinism to Tyrosinase gene. ( 27275442 )
2016
25
Report from the 1st international workshop on oculocutaneous albinism in subsaharan Africa, Douala, Cameroon, July 24-25(th) 2015. ( 27412970 )
2016
26
Mutation analysis of a Chinese family with oculocutaneous albinism. ( 27829221 )
2016
27
Two novel splicing mutations in the SLC45A2 gene cause Oculocutaneous Albinism Type IV by unmasking cryptic splice sites. ( 26016411 )
2015
28
29-year-old man presenting with progressive dyspnea, oculocutaneous albinism, and epistaxis. ( 26033137 )
2015
29
Posterior staphyloma in oculocutaneous albinism: another possible cause of reduced visual acuity. ( 26691042 )
2015
30
Partial Oculocutaneous Albinism: Two Siblings with Features of both Hermansky Pudlak and Waardenburg's Syndrome. ( 25933462 )
2015
31
Quality of life in patients with oculocutaneous albinism. ( 26375220 )
2015
32
Oculocutaneous albinism. ( 25763554 )
2015
33
Genetic analyses of oculocutaneous albinism types 2 and 4 with eight novel mutations. ( 26573111 )
2015
34
Sequence analysis of tyrosinase gene in ocular and oculocutaneous albinism patients: introducing three novel mutations. ( 26167114 )
2015
35
Oculocutaneous albinism in a patient with 17p13.2-pter duplication - a review on the molecular syndromology of 17p13 duplication. ( 25690523 )
2015
36
Mutational spectrum of the TYR and SLC45A2 genes in Pakistani families with oculocutaneous albinism, and potential founder effect of missense substitution (p.Arg77Gln) of tyrosinase. ( 25703744 )
2015
37
Dermoscopic features of a medium-sized congenital melanocytic nevus in oculocutaneous albinism. ( 26474820 )
2015
38
A nonsense nucleotide substitution in the oculocutaneous albinism II gene underlies the original pink-eyed dilution allele (Oca2(p)) in mice. ( 25736709 )
2015
39
Visual deficits in Nepalese patients with oculocutaneous albinism. ( 25823539 )
2015
40
Oculocutaneous albinism: developing novel antibodies targeting the proteins associated with OCA2 and OCA4. ( 25530116 )
2015
41
[Suspected pathogenic mutation identified in two cases with oculocutaneous albinism]. ( 26252096 )
2015
42
Prenatal genotyping of four common oculocutaneous albinism genes in 51 Chinese families. ( 26165494 )
2015
43
Mutational Analysis of the TYR and OCA2 Genes in Four Chinese Families with Oculocutaneous Albinism. ( 25919014 )
2015
44
Oculocutaneous Albinism and Squamous Cell Carcinoma of the Skin of the Head and Neck in Sub-Saharan Africa. ( 26347819 )
2015
45
Positive selection with diversity in oculocutaneous albinisms type 2 gene (OCA2) among Japanese. ( 25469862 )
2015
46
Combined cataract surgery and aniridia ring implantation in oculocutaneous albinism. ( 26703494 )
2015
47
Identification of a homozygous mutation of SLC24A5 (OCA6) in two patients with oculocutaneous albinism from French Guiana. ( 26491832 )
2015
48
Evaluation of choroidal thickness among patients with oculocutaneous albinism. ( 24814965 )
2014
49
Functional characterization of two novel splicing mutations in the OCA2 gene associated with oculocutaneous albinism type II. ( 24361966 )
2014
50
Chediak-Higashi Syndrome: A Case Report of a Girl Without Silvery Hair and Oculocutaneous Albinism Presenting with Hemophagocytic Lymphohistiocytosis. ( 25541665 )
2014

Variations for Oculocutaneous Albinism

ClinVar genetic disease variations for Oculocutaneous Albinism:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 OCA2 NM_000275.2(OCA2): c.1327G> A (p.Val443Ile) single nucleotide variant Pathogenic/Likely pathogenic rs121918166 GRCh37 Chromosome 15, 28230247: 28230247
2 TYR NM_000372.4(TYR): c.1118C> A (p.Thr373Lys) single nucleotide variant Pathogenic rs61754388 GRCh37 Chromosome 11, 88961072: 88961072
3 TYR NM_000372.4(TYR): c.1217C> T (p.Pro406Leu) single nucleotide variant Pathogenic/Likely pathogenic rs104894313 GRCh37 Chromosome 11, 89017973: 89017973
4 TYR NM_000372.4(TYR): c.1037-7T> A single nucleotide variant Pathogenic/Likely pathogenic rs61754381 GRCh37 Chromosome 11, 88960984: 88960984

Expression for Oculocutaneous Albinism

Search GEO for disease gene expression data for Oculocutaneous Albinism.

Pathways for Oculocutaneous Albinism

Pathways related to Oculocutaneous Albinism according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 9.62 OCA2 SLC45A2 TYR TYRP1

GO Terms for Oculocutaneous Albinism

Cellular components related to Oculocutaneous Albinism according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 lysosomal membrane GO:0005765 9.5 AP3B1 HPS6 OCA2
2 axon cytoplasm GO:1904115 9.26 AP3B1 BLOC1S3
3 melanosome GO:0042470 9.26 HPS4 SLC24A5 TYR TYRP1
4 BLOC-2 complex GO:0031084 9.16 HPS3 HPS6
5 melanosome membrane GO:0033162 8.92 OCA2 SLC45A2 TYR TYRP1

Biological processes related to Oculocutaneous Albinism according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 blood coagulation GO:0007596 9.65 AP3B1 HPS4 HPS6
2 melanosome organization GO:0032438 9.5 AP3B1 BLOC1S3 TYRP1
3 anterograde axonal transport GO:0008089 9.46 AP3B1 BLOC1S3
4 melanin biosynthetic process GO:0042438 9.46 OCA2 SLC45A2 TYR TYRP1
5 anterograde synaptic vesicle transport GO:0048490 9.43 AP3B1 BLOC1S3
6 organelle organization GO:0006996 9.43 HPS3 HPS4 HPS6
7 developmental pigmentation GO:0048066 9.4 OCA2 SLC45A2
8 eye pigment biosynthetic process GO:0006726 9.37 OCA2 TYR
9 melanocyte differentiation GO:0030318 9.35 HPS4 HPS6 LRMDA OCA2 TYRP1
10 pigmentation GO:0043473 9.1 BLOC1S3 HPS3 HPS6 OCA2 TYR TYRP1

Molecular functions related to Oculocutaneous Albinism according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 copper ion binding GO:0005507 8.96 TYR TYRP1
2 GTP-dependent protein binding GO:0030742 8.62 AP3B1 HPS6

Sources for Oculocutaneous Albinism

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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