MCID: MCC010
MIFTS: 54

Mccune-Albright Syndrome, Somatic, Mosaic

Categories: Genetic diseases, Rare diseases, Reproductive diseases, Bone diseases, Skin diseases, Endocrine diseases, Fetal diseases

Aliases & Classifications for Mccune-Albright Syndrome, Somatic, Mosaic

MalaCards integrated aliases for Mccune-Albright Syndrome, Somatic, Mosaic:

Name: Mccune-Albright Syndrome, Somatic, Mosaic 54
Mccune-Albright Syndrome 72 50 24 25 56 71 29 13 69
Polyostotic Fibrous Dysplasia 12 50 24 25 56 69
Mas 50 24 25 71
Osteitis Fibrosa Disseminata 12 25 69
Fibrous Dysplasia of Bone 12 56 42
Mccune Albright Syndrome 12 50 14
Albright's Disease 50 25
Albright Syndrome 50 25
Pofd 50 25
Pfd 50 25
Fibrous Dysplasia with Pigmentary Skin Changes and Precocious Puberty 25
Gonadotropin-Independent Female-Limited Sexual Precocity 56
Albright's Syndrome with Precocious Puberty 25
Albright-Mccune-Sternberg Syndrome 25
Fibrous Dysplasia, Polyostotic 42
Fibrous Dysplasia Polyostotic 52
Albright-Sternberg Syndrome 25
Albright's Disease of Bone 25
Albright's Syndrome 25

Characteristics:

Orphanet epidemiological data:

56
mccune-albright syndrome
Inheritance: Not applicable; Prevalence: 1-9/1000000 (Europe); Age of onset: Childhood; Age of death: normal life expectancy;
fibrous dysplasia of bone
Inheritance: Not applicable; Age of onset: Childhood; Age of death: normal life expectancy;

OMIM:

54
Miscellaneous:
variable phenotype
activating or gain-of-function gnas1 mutations in patients with the mccune-albright syndrome are present in the mosaic state, resulting from a postzygotic somatic mutation appearing early in the course of development which yields a monoclonal population of mutated cells within variously affected tissues

Inheritance:
somatic mosaicism


HPO:

32
mccune-albright syndrome, somatic, mosaic:
Onset and clinical course phenotypic variability
Inheritance somatic mosaicism


Classifications:



Summaries for Mccune-Albright Syndrome, Somatic, Mosaic

NIH Rare Diseases : 50 mccune-albright syndrome (mas) is a disorder that affects the skin, skeleton, and certain endocrine organs (hormone-producing tissues). cafe-au-lait spots of the skin are common and are usually the first apparent sign of mas. the main skeletal feature is fibrous dysplasia, which ranges in severity and can cause various complications. early skeletal symptoms may include limping, pain, or fracture. endocrine features may include precocious puberty; excess growth hormone; thyroid lesions with possible hyperthyroidism; cushing syndrome; and renal phosphate wasting. mas is not inherited. it is caused by a somatic mutation in a gene called gnas, which is acquired after an egg is fertilized and only affects some of the body's cells and tissues. management depends on the symptoms in each person and may include optimizing function related to fractures and deformities; medications; and surgery. last updated: 8/28/2017

MalaCards based summary : Mccune-Albright Syndrome, Somatic, Mosaic, also known as mccune-albright syndrome, is related to fibrous dysplasia/mccune-albright syndrome and fibrous dysplasia, and has symptoms including optic atrophy, kyphosis and macrocephaly. An important gene associated with Mccune-Albright Syndrome, Somatic, Mosaic is GNAS (GNAS Complex Locus), and among its related pathways/superpathways are Signaling by GPCR and ERK Signaling. Affiliated tissues include skin, bone and thyroid, and related phenotypes are endocrine/exocrine gland and homeostasis/metabolism

UniProtKB/Swiss-Prot : 71 McCune-Albright syndrome: Characterized by polyostotic fibrous dysplasia, cafe-au-lait lesions, and a variety of endocrine disorders, including precocious puberty, hyperthyroidism, hypercortisolism, growth hormone excess, and hyperprolactinemia. The mutations producing MAS lead to constitutive activation of GS alpha.

Genetics Home Reference : 25 McCune-Albright syndrome is a disorder that affects the bones, skin, and several hormone-producing (endocrine) tissues.

OMIM : 54
Activating or gain-of-function GNAS1 mutations in patients with the McCune-Albright syndrome are present in the mosaic state, resulting from a postzygotic somatic mutation appearing early in the course of development which yields a monoclonal population of mutated cells within variously affected tissues. The nonmosaic state for most activating mutations is presumably lethal to the embryo. The disorder is characterized clinically by the classic triad of polyostotic fibrous dysplasia (POFD), cafe-au-lait skin pigmentation, and peripheral precocious puberty. However, the disorder is clinically heterogeneous and can include various other endocrinologic anomalies such as thyrotoxicosis, pituitary gigantism, and Cushing syndrome (219080) (Lumbroso et al., 2004). (174800)

Disease Ontology : 12 An autosomal dominant disease that involves skin pigmentation, bone and hormonal problems along with premature puberty. It has material basis in mutations in the GNAS1 gene.

Related Diseases for Mccune-Albright Syndrome, Somatic, Mosaic

Diseases related to Mccune-Albright Syndrome, Somatic, Mosaic via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 120)
id Related Disease Score Top Affiliating Genes
1 fibrous dysplasia/mccune-albright syndrome 12.2
2 fibrous dysplasia 11.5
3 gigantism 11.4
4 acth-independent macronodular adrenal hyperplasia 11.4
5 legius syndrome 11.1
6 carney complex, type 1 11.1
7 properdin deficiency, x-linked 10.9
8 pseudoinflammatory fundus dystrophy 10.9
9 g6pc3 deficiency 10.6 GH1 PRL
10 precocious puberty 10.6
11 combined t cell and b cell immunodeficiency 10.6 GH1 PRL
12 aortic valve atresia 10.6 GH1 PRL
13 intermittent squint 10.6 GH1 PRL
14 meningocele 10.6 APC PRL
15 lactic acidosis 10.6 GH1 PRL
16 glassy cell carcinoma of the cervix 10.5 GH1 PRL
17 acromegaly 10.5
18 pityriasis rotunda 10.5 GH1 PRL
19 mastitis 10.5 LHCGR PRL
20 47,xyy syndrome 10.5 GH1 PRL
21 adenoma 10.4
22 hyperthyroidism 10.4
23 sphingolipidosis 10.4 LHCGR PRL
24 diencephalic neoplasm 10.4 GH1 PRL
25 pituitary adenoma 10.4
26 lipase deficiency, combined 10.4 GH1 IGF1
27 ulcerative blepharitis 10.3 IGF1 PRL
28 thyroiditis 10.3
29 immune system organ benign neoplasm 10.3 IGF1 PRL
30 radioulnar synostosis with amegakaryocytic thrombocytopenia 1 10.3 GH1 IGF1
31 cold-induced sweating syndrome 2 10.3 GH1 GNAS PRL
32 trabecular follicular adenocarcinoma 10.3 PRKAR1A PRL
33 bronchiectasis 10.3 PRKAR1A PRL
34 growth hormone insensitivity, partial 10.3 GH1 IGF1
35 skin meningioma 10.3 GH1 GNAS PRL
36 osteitis fibrosa 10.3
37 presenile dementia, kraepelin type 10.2 GH1 GNAS LHCGR
38 gastric antral vascular ectasia 10.2 FGF23 GNAS
39 mutism 10.2 APC GNAS
40 kowarski syndrome 10.2 GH1 IGF1
41 labyrinthitis 10.2 GNAS PRKAR1A
42 ovarian cyst 10.2
43 hyperparathyroidism 10.2
44 adrenal cortex disease 10.2 GH1 PRKAR1A PRL
45 protein s deficiency 10.1 GH1 IGF1 PRL
46 hypothyroidism, congenital, nongoitrous 4 10.1 GH1 IGF1 PRL
47 strabismus 10.1 GH1 MEN1 PRL
48 neuropathy 10.1
49 hypophosphatemia 10.1
50 hyperprolactinemia 10.1

Graphical network of the top 20 diseases related to Mccune-Albright Syndrome, Somatic, Mosaic:



Diseases related to Mccune-Albright Syndrome, Somatic, Mosaic

Symptoms & Phenotypes for Mccune-Albright Syndrome, Somatic, Mosaic

Symptoms via clinical synopsis from OMIM:

54

Head And Neck- Eyes:
blindness

Endocrine Features:
hyperparathyroidism
hyperthyroidism
cushing syndrome
precocious puberty
acromegaly
more
Neoplasia:
pituitary adenoma

Abdomen- Gastroin testinal:
gastrointestinal polyps

Skin Nails & Hair- Skin:
large cafe au lait spots with irregular margins

Head And Neck- Ears:
deafness

Head And Neck- Face:
facial asymmetry

Skeletal:
pathologic fracture
polyostotic fibrous dysplasia

Head And Neck- Head:
cranial foramen impingement
craniofacial hyperostosis


Clinical features from OMIM:

174800

Human phenotypes related to Mccune-Albright Syndrome, Somatic, Mosaic:

56 32 (show all 47)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 optic atrophy 56 32 occasional (7.5%) Occasional (29-5%) HP:0000648
2 kyphosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0002808
3 macrocephaly 56 32 occasional (7.5%) Occasional (29-5%) HP:0000256
4 recurrent fractures 56 32 hallmark (90%) Very frequent (99-80%) HP:0002757
5 bone pain 56 32 hallmark (90%) Very frequent (99-80%) HP:0002653
6 hyperparathyroidism 56 32 occasional (7.5%) Occasional (29-5%) HP:0000843
7 goiter 56 32 occasional (7.5%) Occasional (29-5%) HP:0000853
8 hyperthyroidism 56 32 occasional (7.5%) Occasional (29-5%) HP:0000836
9 tall stature 56 32 occasional (7.5%) Occasional (29-5%) HP:0000098
10 skeletal dysplasia 56 32 hallmark (90%) Very frequent (99-80%) HP:0002652
11 polycystic ovaries 56 32 occasional (7.5%) Occasional (29-5%) HP:0000147
12 prolonged bleeding time 56 32 occasional (7.5%) Occasional (29-5%) HP:0003010
13 hypophosphatemia 56 32 hallmark (90%) Very frequent (99-80%) HP:0002148
14 precocious puberty 56 32 hallmark (90%) Very frequent (99-80%) HP:0000826
15 macroorchidism 56 32 occasional (7.5%) Occasional (29-5%) HP:0000053
16 open bite 56 32 occasional (7.5%) Occasional (29-5%) HP:0010807
17 carious teeth 56 32 occasional (7.5%) Occasional (29-5%) HP:0000670
18 sarcoma 56 32 occasional (7.5%) Occasional (29-5%) HP:0100242
19 elevated hepatic transaminases 56 32 occasional (7.5%) Occasional (29-5%) HP:0002910
20 multiple cafe-au-lait spots 56 32 hallmark (90%) Very frequent (99-80%) HP:0007565
21 mandibular prognathia 56 32 occasional (7.5%) Occasional (29-5%) HP:0000303
22 abnormality of vision 56 32 occasional (7.5%) Occasional (29-5%) HP:0000504
23 hearing abnormality 56 32 occasional (7.5%) Occasional (29-5%) HP:0000364
24 reduced bone mineral density 56 32 hallmark (90%) Very frequent (99-80%) HP:0004349
25 abnormality of dental enamel 56 32 occasional (7.5%) Occasional (29-5%) HP:0000682
26 long penis 56 32 occasional (7.5%) Occasional (29-5%) HP:0000040
27 generalized hyperpigmentation 56 32 hallmark (90%) Very frequent (99-80%) HP:0007440
28 neoplasm of the thyroid gland 56 32 occasional (7.5%) Occasional (29-5%) HP:0100031
29 abnormality of the palate 56 32 occasional (7.5%) Occasional (29-5%) HP:0000174
30 testicular neoplasm 56 32 occasional (7.5%) Occasional (29-5%) HP:0010788
31 neoplasm of the breast 56 32 occasional (7.5%) Occasional (29-5%) HP:0100013
32 blindness 32 HP:0000618
33 facial asymmetry 32 HP:0000324
34 hearing impairment 32 HP:0000365
35 pituitary adenoma 32 HP:0002893
36 pathologic fracture 32 HP:0002756
37 craniofacial hyperostosis 32 HP:0004493
38 polyostotic fibrous dysplasia 32 HP:0010735
39 abnormality of the teeth 56 Occasional (29-5%)
40 abnormality of the eye 56 Occasional (29-5%)
41 abnormality of the face 56 Occasional (29-5%)
42 growth hormone excess 32 HP:0000845
43 hypercortisolism 56 Occasional (29-5%)
44 intestinal polyposis 32 HP:0200008
45 increased circulating cortisol level 32 occasional (7.5%) HP:0003118
46 prolactin excess 32 HP:0000870
47 large cafe-au-lait macules with irregular margins 32 HP:0005605

MGI Mouse Phenotypes related to Mccune-Albright Syndrome, Somatic, Mosaic:

44 (show all 20)
id Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 10.21 MEN1 PRKAR1A PRL APC FGF23 GNA11
2 homeostasis/metabolism MP:0005376 10.18 APC FGF23 GNA11 GNAS IGF1 LHCGR
3 immune system MP:0005387 10.16 APC FGF23 GNA11 GNAS IGF1 LHCGR
4 growth/size/body region MP:0005378 10.15 APC FGF23 GNA11 GNAS IGF1 LHCGR
5 cardiovascular system MP:0005385 10.13 APC FGF23 GNA11 GNAS IGF1 MEN1
6 hematopoietic system MP:0005397 10.08 APC FGF23 GNA11 GNAS IGF1 LHCGR
7 adipose tissue MP:0005375 9.99 APC GNAS IGF1 LHCGR PRKAR1A
8 craniofacial MP:0005382 9.97 GNA11 GNAS MEN1 PRKAR1A APC
9 digestive/alimentary MP:0005381 9.97 APC FGF23 LHCGR MEN1 PRKAR1A
10 integument MP:0010771 9.97 APC FGF23 GNA11 GNAS IGF1 PRL
11 limbs/digits/tail MP:0005371 9.95 APC FGF23 GNA11 GNAS IGF1 LHCGR
12 liver/biliary system MP:0005370 9.93 APC GNA11 GNAS MEN1 PRKAR1A PRL
13 muscle MP:0005369 9.91 APC GNA11 GNAS IGF1 MEN1 PRKAR1A
14 neoplasm MP:0002006 9.88 PRKAR1A PRL APC GNAS IGF1 MEN1
15 nervous system MP:0003631 9.85 APC GNA11 GNAS IGF1 MEN1 PRL
16 renal/urinary system MP:0005367 9.73 APC FGF23 GNA11 GNAS IGF1 LHCGR
17 normal MP:0002873 9.72 APC GNA11 GNAS IGF1 PRKAR1A
18 reproductive system MP:0005389 9.7 APC FGF23 IGF1 LHCGR MEN1 PRKAR1A
19 respiratory system MP:0005388 9.35 GNAS IGF1 PRKAR1A FGF23 GNA11
20 skeleton MP:0005390 9.17 APC FGF23 GNA11 GNAS IGF1 LHCGR

Drugs & Therapeutics for Mccune-Albright Syndrome, Somatic, Mosaic

Search Clinical Trials , NIH Clinical Center for Mccune-Albright Syndrome, Somatic, Mosaic

Cochrane evidence based reviews: fibrous dysplasia of bone

Genetic Tests for Mccune-Albright Syndrome, Somatic, Mosaic

Genetic tests related to Mccune-Albright Syndrome, Somatic, Mosaic:

id Genetic test Affiliating Genes
1 Mccune-Albright Syndrome 29 24 GNAS

Anatomical Context for Mccune-Albright Syndrome, Somatic, Mosaic

MalaCards organs/tissues related to Mccune-Albright Syndrome, Somatic, Mosaic:

39
Skin, Bone, Thyroid, Pituitary, Breast, Ovary, Eye

Publications for Mccune-Albright Syndrome, Somatic, Mosaic

Variations for Mccune-Albright Syndrome, Somatic, Mosaic

UniProtKB/Swiss-Prot genetic disease variations for Mccune-Albright Syndrome, Somatic, Mosaic:

71
id Symbol AA change Variation ID SNP ID
1 GNAS p.Arg201His VAR_003441 rs121913495
2 GNAS p.Arg201Cys VAR_003442 rs11554273
3 GNAS p.Arg201Gly VAR_017844 rs11554273

ClinVar genetic disease variations for Mccune-Albright Syndrome, Somatic, Mosaic:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 GNAS NM_000516.5(GNAS): c.601C> T (p.Arg201Cys) single nucleotide variant Pathogenic/Likely pathogenic rs11554273 GRCh37 Chromosome 20, 57484420: 57484420
2 GNAS NM_000516.5(GNAS): c.602G> A (p.Arg201His) single nucleotide variant Pathogenic/Likely pathogenic rs121913495 GRCh37 Chromosome 20, 57484421: 57484421
3 GNAS NM_000516.5(GNAS): c.680A> G (p.Gln227Arg) single nucleotide variant Pathogenic rs121913494 GRCh37 Chromosome 20, 57484596: 57484596
4 GNAS NM_000516.5(GNAS): c.601C> A (p.Arg201Ser) single nucleotide variant Pathogenic rs11554273 GRCh37 Chromosome 20, 57484420: 57484420
5 GNAS NM_000516.5(GNAS): c.601C> G (p.Arg201Gly) single nucleotide variant Pathogenic rs11554273 GRCh37 Chromosome 20, 57484420: 57484420
6 GNAS NM_000516.5(GNAS): c.602G> T (p.Arg201Leu) single nucleotide variant Pathogenic/Likely pathogenic rs121913495 GRCh37 Chromosome 20, 57484421: 57484421
7 GNAS NM_000516.5(GNAS): c.679C> A (p.Gln227Lys) single nucleotide variant Pathogenic rs797045203 GRCh38 Chromosome 20, 58909540: 58909540
8 GNAS NM_000516.5(GNAS): c.680A> T (p.Gln227Leu) single nucleotide variant Pathogenic/Likely pathogenic rs121913494 GRCh38 Chromosome 20, 58909541: 58909541
9 GNAS NM_000516.5(GNAS): c.681G> T (p.Gln227His) single nucleotide variant Pathogenic rs137854533 GRCh38 Chromosome 20, 58909542: 58909542

Copy number variations for Mccune-Albright Syndrome, Somatic, Mosaic from CNVD:

7
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 142828 2 230700000 242951149 Microdeletion Albright''s disease

Expression for Mccune-Albright Syndrome, Somatic, Mosaic

Search GEO for disease gene expression data for Mccune-Albright Syndrome, Somatic, Mosaic.

Pathways for Mccune-Albright Syndrome, Somatic, Mosaic

Pathways related to Mccune-Albright Syndrome, Somatic, Mosaic according to GeneCards Suite gene sharing:

(show all 32)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.93 APC FGF23 GNA11 GNAS IGF1 LHCGR
2
Show member pathways
13.59 APC FGF23 GH1 GNA11 GNAS IGF1
3
Show member pathways
13.5 FGF23 GH1 GNA11 GNAS IGF1 PRKAR1A
4
Show member pathways
13.29 FGF23 GH1 GNA11 GNAS IGF1 PRKAR1A
5
Show member pathways
13.26 FGF23 GH1 GNA11 GNAS IGF1 PRL
6
Show member pathways
13.19 FGF23 GH1 GNA11 GNAS IGF1
7
Show member pathways
13.04 FGF23 GH1 GNA11 GNAS IGF1 PRKAR1A
8
Show member pathways
12.98 APC FGF23 GH1 GNAS IGF1 PRKAR1A
9
Show member pathways
12.9 GH1 GNA11 GNAS IGF1 PRKAR1A PRL
10
Show member pathways
12.8 FGF23 GH1 GNA11 GNAS IGF1
11
Show member pathways
12.67 GH1 GNA11 GNAS PRKAR1A
12
Show member pathways
12.64 GNA11 GNAS IGF1 PRKAR1A
13
Show member pathways
12.51 FGF23 GH1 GNA11 GNAS IGF1 PRKAR1A
14
Show member pathways
12.46 FGF23 GH1 IGF1 PRKAR1A
15
Show member pathways
12.31 GNA11 GNAS IGF1 PRKAR1A
16 12.25 APC FGF23 GNA11 GNAS IGF1
17
Show member pathways
12.21 GNA11 GNAS PRKAR1A
18
Show member pathways
12.17 GNA11 GNAS PRKAR1A
19
Show member pathways
12.12 GNAS IGF1 PRKAR1A
20
Show member pathways
12.04 GNA11 GNAS LHCGR
21
Show member pathways
12 GNA11 GNAS PRKAR1A
22 11.97 APC FGF23 GH1 GNAS IGF1 PRL
23 11.96 APC GNAS PRKAR1A
24
Show member pathways
11.79 GNA11 GNAS PRKAR1A
25 11.36 GNA11 GNAS IGF1
26 11.28 APC MEN1
27
Show member pathways
11.25 GH1 PRL
28 11.24 GNAS IGF1 LHCGR
29 11.15 GNA11 LHCGR
30 11.09 GNA11 GNAS PRKAR1A
31 10.95 GNAS PRKAR1A
32 10.79 FGF23 GH1 GNA11 GNAS IGF1 PRKAR1A

GO Terms for Mccune-Albright Syndrome, Somatic, Mosaic

Cellular components related to Mccune-Albright Syndrome, Somatic, Mosaic according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 heterotrimeric G-protein complex GO:0005834 8.96 GNA11 GNAS
2 endosome lumen GO:0031904 8.62 GH1 PRL

Biological processes related to Mccune-Albright Syndrome, Somatic, Mosaic according to GeneCards Suite gene sharing:

(show all 13)
id Name GO ID Score Top Affiliating Genes
1 cognition GO:0050890 9.52 GNAS LHCGR
2 negative regulation of osteoblast differentiation GO:0045668 9.51 FGF23 MEN1
3 skeletal system development GO:0001501 9.5 GNA11 GNAS IGF1
4 cellular response to glucagon stimulus GO:0071377 9.49 GNAS PRKAR1A
5 activation of adenylate cyclase activity GO:0007190 9.48 GNAS LHCGR
6 renal water homeostasis GO:0003091 9.46 GNAS PRKAR1A
7 regulation of multicellular organism growth GO:0040014 9.43 IGF1 PRL
8 negative regulation of cyclin-dependent protein serine/threonine kinase activity GO:0045736 9.4 APC MEN1
9 positive regulation of JAK-STAT cascade GO:0046427 9.37 GH1 PRL
10 JAK-STAT cascade involved in growth hormone signaling pathway GO:0060397 9.26 GH1 PRL
11 positive regulation of insulin-like growth factor receptor signaling pathway GO:0043568 9.16 GH1 IGF1
12 positive regulation of cAMP-mediated signaling GO:0043950 8.96 GNAS LHCGR
13 cellular protein metabolic process GO:0044267 8.92 FGF23 IGF1 MEN1 PRL

Molecular functions related to Mccune-Albright Syndrome, Somatic, Mosaic according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 growth factor activity GO:0008083 9.54 FGF23 GH1 IGF1
2 G-protein beta/gamma-subunit complex binding GO:0031683 9.32 GNA11 GNAS
3 guanyl nucleotide binding GO:0019001 9.26 GNA11 GNAS
4 insulin-like growth factor receptor binding GO:0005159 9.16 GNAS IGF1
5 hormone activity GO:0005179 9.13 GH1 IGF1 PRL
6 prolactin receptor binding GO:0005148 8.62 GH1 PRL

Sources for Mccune-Albright Syndrome, Somatic, Mosaic

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10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
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43 MESH via Orphanet
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70 UMLS via Orphanet
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