CNC1
MCID: CRN243
MIFTS: 45

Carney Complex, Type 1 (CNC1)

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

Aliases & Classifications for Carney Complex, Type 1

MalaCards integrated aliases for Carney Complex, Type 1:

Name: Carney Complex, Type 1 58 76 30 13 6 41 74
Car 58 77 76 3
Carney Syndrome 58 77 76
Name Syndrome 58 77 76
Myxoma, Spotty Pigmentation, and Endocrine Overactivity 58 76
Carney Myxoma-Endocrine Complex 58 76
Lamb Syndrome 58 76
Cnc1 58 76
Carney Syndrome; Car 58
Carney Complex 1 76
Carney Complex 74

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
genetic heterogeneity (see cnc2, )


HPO:

33
carney complex, type 1:
Inheritance heterogeneous autosomal dominant inheritance


Classifications:



Summaries for Carney Complex, Type 1

OMIM : 58 Carney complex is an autosomal dominant multiple neoplasia syndrome characterized by cardiac, endocrine, cutaneous, and neural myxomatous tumors, as well as a variety of pigmented lesions of the skin and mucosae. Carney complex may simultaneously involve multiple endocrine glands, similar to classic MEN syndromes (MEN1; 131100 and MEN2; 171400). Carney complex shows some similarities to McCune-Albright syndrome (MAS; 174800), a sporadic condition that is also characterized by multiple endocrine and nonendocrine tumors, and shares skin abnormalities and some nonendocrine tumors with the lentiginoses and certain of the hamartomatoses, particularly Peutz-Jeghers syndrome (PJS; 175200). Carney complex is often associated with the unusual large-cell calcifying Sertoli cell tumor and psammomatous melanotic schwannomas (Kirschner et al., 2000; Stratakis et al., 2001). (160980)

MalaCards based summary : Carney Complex, Type 1, also known as car, is related to carney complex, type 2 and carney complex variant. An important gene associated with Carney Complex, Type 1 is PRKAR1A (Protein Kinase CAMP-Dependent Type I Regulatory Subunit Alpha). The drugs Epinephrine and Racepinephrine have been mentioned in the context of this disorder. Affiliated tissues include t cells, skin and liver, and related phenotypes are abnormality of the eye and congestive heart failure

UniProtKB/Swiss-Prot : 76 Carney complex 1: CNC is a multiple neoplasia syndrome characterized by spotty skin pigmentation, cardiac and other myxomas, endocrine tumors, and psammomatous melanotic schwannomas.

Wikipedia : 77 The Crawford expedition was a campaign on the western front of the American Revolutionary War, and one... more...

Related Diseases for Carney Complex, Type 1

Diseases in the Carney Complex Variant family:

Carney Complex, Type 1 Carney Complex, Type 2

Diseases related to Carney Complex, Type 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 14)
# Related Disease Score Top Affiliating Genes
1 carney complex, type 2 11.7
2 carney complex variant 11.5
3 pigmented nodular adrenocortical disease, primary, 1 11.2
4 paragangliomas 1 11.0
5 peutz-jeghers syndrome 9.9
6 gastrointestinal stromal tumor 9.9
7 paraganglioma and gastric stromal sarcoma 9.9
8 paraganglioma 9.9
9 nonsyndromic paraganglioma 9.9
10 cerebral aneurysms 9.9
11 lentigines 9.7
12 insulin-like growth factor i 9.7
13 acrodysostosis 9.7 FAM20A PRKAR1A
14 neurofibroma 9.6

Graphical network of the top 20 diseases related to Carney Complex, Type 1:



Diseases related to Carney Complex, Type 1

Symptoms & Phenotypes for Carney Complex, Type 1

Human phenotypes related to Carney Complex, Type 1:

33 (show all 14)
# Description HPO Frequency HPO Source Accession
1 abnormality of the eye 33 HP:0000478
2 congestive heart failure 33 HP:0001635
3 nevus 33 HP:0003764
4 pheochromocytoma 33 HP:0002666
5 growth hormone excess 33 HP:0000845
6 pituitary adenoma 33 HP:0002893
7 thyroid carcinoma 33 HP:0002890
8 freckling 33 HP:0001480
9 hirsutism 33 HP:0001007
10 schwannoma 33 HP:0100008
11 red hair 33 HP:0002297
12 profuse pigmented skin lesions 33 HP:0005587
13 thyroid follicular hyperplasia 33 HP:0008225
14 myxoid subcutaneous tumors 33 HP:0006769

Symptoms via clinical synopsis from OMIM:

58
Cardiovascular Heart:
congestive heart failure
atrial myxoma
ventricular myxoma

Skin Nails Hair Hair:
hirsutism
red hair

Endocrine Features:
acromegaly
pigmented micronodular adrenal dysplasia
cushing disease
thyroid follicular hyperplasia

Neoplasia:
pheochromocytoma
pituitary adenoma
thyroid carcinoma
schwannoma
myxoid subcutaneous tumors
more
Skin Nails Hair Skin:
profuse pigmented skin lesions
nevi
ephelides
centrofacial/mucosal lentigines
blue nevi

Head And Neck Eyes:
conjunctival and scleral pigmentation
eyelid myxoma

Clinical features from OMIM:

160980

MGI Mouse Phenotypes related to Carney Complex, Type 1:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 8.96 FAM20A PRKAR1A
2 respiratory system MP:0005388 8.62 FAM20A PRKAR1A

Drugs & Therapeutics for Carney Complex, Type 1

Drugs for Carney Complex, Type 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Epinephrine Approved, Vet_approved 51-43-4 5816
2
Racepinephrine Approved 329-65-7 838
3 Hormones
4 Epinephryl borate

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Linsitinib in Treating Patients With Gastrointestinal Stromal Tumors Completed NCT01560260 Phase 2 Linsitinib
2 Aryl Hydrocarbon Receptor Interacting Protein (AIP) Gene Mutations in Acromegaly Unknown status NCT01902420
3 Primary Pigmented Nodular Adrenocortical Disease (PPNAD) and the CARNEY Complex (CNC) Completed NCT00668291
4 Defining the Genetic Basis for the Development of Primary Pigmented Nodular Adrenocortical Disease (PPNAD) and the Carney Complex Recruiting NCT00001452
5 Familial Investigations of Childhood Cancer Predisposition Recruiting NCT03050268

Search NIH Clinical Center for Carney Complex, Type 1

Genetic Tests for Carney Complex, Type 1

Genetic tests related to Carney Complex, Type 1:

# Genetic test Affiliating Genes
1 Carney Complex, Type 1 30 PRKAR1A

Anatomical Context for Carney Complex, Type 1

MalaCards organs/tissues related to Carney Complex, Type 1:

42
T Cells, Skin, Liver, B Cells, Testes, Thyroid, Heart

Publications for Carney Complex, Type 1

Articles related to Carney Complex, Type 1:

(show top 50) (show all 3015)
# Title Authors Year
1
Correction: Unique CDR3 epitope targeting by CAR-T cells is a viable approach for treating T-cell malignancies. ( 31097784 )
2019
2
Characterization, concentration and risk assessment of airborne particles using car engine air filter (case study: Tehran metropolis). ( 31098950 )
2019
3
Modelling CAR-T therapy in humanized mice. ( 30665855 )
2019
4
Industry's Giant Leap Into Cellular Therapy: Catalyzing Chimeric Antigen Receptor T Cell (CAR-T) Immunotherapy. ( 30666506 )
2019
5
Relapsed Philadelphia Chromosome-Positive Pre-B-ALL after CD19-Directed CAR-T Cell Therapy Successfully Treated with Combination of Blinatumomab and Ponatinib. ( 30695783 )
2019
6
Factors associated with durable EFS in adult B-cell ALL patients achieving MRD-negative CR after CD19 CAR T-cell therapy. ( 30728140 )
2019
7
Evaluating CAR-T Cell Therapy in a Hypoxic 3D Tumor Model. ( 30734529 )
2019
8
A Novel Dual Successive Projection-Based Model-Free Adaptive Control Method and Application to an Autonomous Car. ( 30762569 )
2019
9
Retraction: Steering CAR T Cells into Solid Tumors. N Engl J Med 2019;380:289-91. ( 30786181 )
2019
10
Management of cytokine release syndrome and neurotoxicity in chimeric antigen receptor T-cell therapy. ( 30793644 )
2019
11
Pharmacologic control of CAR-T cell function using dasatinib. ( 30814055 )
2019
12
Driving CAR T cell translation forward. ( 30814337 )
2019
13
NR4A transcription factors limit CAR T cell function in solid tumours. ( 30814732 )
2019
14
Implications of the Use of Silica as Active Filler in Passenger Car Tire Compounds on Their Recycling Options. ( 30832290 )
2019
15
Validity and reliability of work ability index (WAI) questionnaire among Iranian workers; a study in petrochemical and car manufacturing industries. ( 30866128 )
2019
16
Sirolimus-Coated Balloons: A Ferrari for Our Coronary Patients or Another Elegant Town Car? ( 30898254 )
2019
17
Corrigendum: Lymphocytes in Cellular Therapy: Functional Regulation of CAR T Cells. ( 30906295 )
2019
18
Repurposing CAR T cells to treat SLE. ( 30911171 )
2019
19
The Future: In Vivo CAR T Cell Gene Therapy. ( 30914238 )
2019
20
Multi Targeted CAR-T Cell Therapies for B-Cell Malignancies. ( 30915277 )
2019
21
First CAR to Pass the Road Test: Tisagenlecleucel's Drive to FDA Approval. ( 30463849 )
2019
22
Standing Tall: Feasibility of a Modified Ride-On Car That Encourages Standing. ( 30557294 )
2019
23
Calibration of CAR activation potential directs alternative T cell fates and therapeutic potency. ( 30559421 )
2019
24
Using a car phone holder for performing oculoscopy with a universal serial bus dermatoscope. ( 30553300 )
2019
25
Improving Outcomes After Distal Pancreatectomy with Celiac Axis Resection (DP-CAR): As Always, it is All About Patient Selection. ( 30539493 )
2019
26
Recent advances in CAR T-cell toxicity: Mechanisms, manifestations and management. ( 30528964 )
2019
27
Critical factors in chimeric antigen receptor-modified T-cell (CAR-T) therapy for solid tumors. ( 30636882 )
2019
28
No. 304-Joint SOGC/CAR Policy Statement on Non-medical Use of Fetal Ultrasound. ( 30638559 )
2019
29
No 304 - Déclaration de principe commune SOGC/CAR sur l'utilisation non médicale de l'échographie fœtale. ( 30638561 )
2019
30
Wishing on a CAR: Understanding the Scope of Intrinsic T-cell Deficits in Patients with Cancer. ( 30936218 )
2019
31
Steering CAR T Cells into Solid Tumors. ( 30650328 )
2019
32
Antagonism of IAPs enhances CAR T cell efficacy. ( 30651288 )
2019
33
CD19-directed CAR T cells gain traction. ( 30518503 )
2019
34
Mesothelin-targeted second generation CAR-T cells inhibit growth of mesothelin-expressing tumors in vivo. ( 30651858 )
2019
35
CAR T Cells Targeting B7-H3, a Pan-Cancer Antigen, Demonstrate Potent Preclinical Activity Against Pediatric Solid Tumors and Brain Tumors. ( 30655315 )
2019
36
Analysis of body pressure distribution on car seats by using deep learning. ( 30509538 )
2019
37
Single, short-time exposure to heat in a car during sunny day can decrease epinephrine concentration in autoinjectors: a real-life pilot study. ( 30503198 )
2019
38
Doctor, when can I drive? - Range of motion of the knee while driving a car. ( 30502934 )
2019
39
Use of a Single CAR T Cell and Several Bispecific Adapters Facilitates Eradication of Multiple Antigenically Different Solid Tumors. ( 30482775 )
2019
40
Triclocarban Disrupts the Epigenetic Status of Neuronal Cells and Induces AHR/CAR-Mediated Apoptosis. ( 30097849 )
2019
41
Generation of CAR-T Cells for Cancer Immunotherapy. ( 30465215 )
2019
42
GM-CSF inhibition reduces cytokine release syndrome and neuroinflammation but enhances CAR-T cell function in xenografts. ( 30463995 )
2019
43
Teaching an old dog new tricks: next-generation CAR T cells. ( 30413825 )
2019
44
A test of the CaR-FA-X mechanisms and depression in adolescents. ( 30182812 )
2019
45
Pharmacological Activation of PXR and CAR Downregulates Distinct Bile Acid-Metabolizing Intestinal Bacteria and Alters Bile Acid Homeostasis. ( 30407581 )
2019
46
Cell Cycle and Apoptosis Regulator 1, CCAR1, Regulates Enhancer-Dependent Nuclear Receptor CAR Transactivation. ( 30397001 )
2019
47
What Would It Take to Get You into an Electric Car? Consumer Perceptions and Decision Making about Electric Vehicles. ( 30260757 )
2019
48
Carvedilol (CAR) combined with carnosic acid (CAA) attenuates doxorubicin-induced cardiotoxicity by suppressing excessive oxidative stress, inflammation, apoptosis and autophagy. ( 30396094 )
2019
49
Changes in workplace car parking and commute mode: a natural experimental study. ( 30282646 )
2019
50
What predicts overgeneral memory in youth? Testing the CaR-FA-X model longitudinally in community adolescents. ( 30394233 )
2019

Variations for Carney Complex, Type 1

UniProtKB/Swiss-Prot genetic disease variations for Carney Complex, Type 1:

76
# Symbol AA change Variation ID SNP ID
1 PRKAR1A p.Ser9Asn VAR_046894
2 PRKAR1A p.Arg74Cys VAR_046895 rs137853303
3 PRKAR1A p.Arg146Ser VAR_046896
4 PRKAR1A p.Asp183Tyr VAR_046897
5 PRKAR1A p.Ala213Asp VAR_046898 rs281864786
6 PRKAR1A p.Gly289Trp VAR_046899

ClinVar genetic disease variations for Carney Complex, Type 1:

6 (show top 50) (show all 261)
# Gene Variation Type Significance SNP ID Assembly Location
1 PRKAR1A NC_000017.11: g.(?_68512379)_(68512548_?)del deletion Pathogenic GRCh38 Chromosome 17, 68512379: 68512548
2 PRKAR1A NC_000017.11: g.(?_68512379)_(68533431_?)del deletion Pathogenic GRCh38 Chromosome 17, 68512379: 68533431
3 PRKAR1A NC_000017.11: g.(?_68515394)_(68515576_?)del deletion Pathogenic GRCh38 Chromosome 17, 68515394: 68515576
4 PRKAR1A NC_000017.11: g.(?_68528870)_(68530449_?)del deletion Pathogenic GRCh38 Chromosome 17, 68528870: 68530449
5 PRKAR1A NM_212472.2(PRKAR1A): c.177+3A> G single nucleotide variant Pathogenic rs797044568 GRCh37 Chromosome 17, 66511720: 66511720
6 PRKAR1A NM_212472.2(PRKAR1A): c.177+3A> G single nucleotide variant Pathogenic rs797044568 GRCh38 Chromosome 17, 68515579: 68515579
7 PRKAR1A NM_002734.4(PRKAR1A): c.671G> A (p.Trp224Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 17, 68525875: 68525875
8 PRKAR1A NM_002734.4(PRKAR1A): c.331G> A (p.Ala111Thr) single nucleotide variant Uncertain significance GRCh38 Chromosome 17, 68522909: 68522909
9 PRKAR1A NM_002734.4(PRKAR1A): c.331G> A (p.Ala111Thr) single nucleotide variant Uncertain significance GRCh37 Chromosome 17, 66519050: 66519050
10 PRKAR1A NM_002734.4(PRKAR1A): c.812dup (p.Leu271Phefs) duplication Pathogenic GRCh37 Chromosome 17, 66525053: 66525053
11 PRKAR1A NM_002734.4(PRKAR1A): c.812dup (p.Leu271Phefs) duplication Pathogenic GRCh38 Chromosome 17, 68528912: 68528912
12 PRKAR1A NM_002734.4(PRKAR1A): c.671G> A (p.Trp224Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 17, 66522016: 66522016
13 PRKAR1A NC_000017.11: g.(?_68515384)_(68529001_?)del deletion Pathogenic GRCh38 Chromosome 17, 68515384: 68529001
14 PRKAR1A NC_000017.11: g.(?_68515384)_(68529001_?)del deletion Pathogenic GRCh37 Chromosome 17, 66511525: 66525142
15 PRKAR1A NM_002734.4(PRKAR1A): c.838C> G (p.Gln280Glu) single nucleotide variant Uncertain significance GRCh38 Chromosome 17, 68528938: 68528938
16 PRKAR1A NM_002734.4(PRKAR1A): c.838C> G (p.Gln280Glu) single nucleotide variant Uncertain significance GRCh37 Chromosome 17, 66525079: 66525079
17 PRKAR1A NM_002734.4(PRKAR1A): c.464C> T (p.Ser155Leu) single nucleotide variant Uncertain significance GRCh37 Chromosome 17, 66520180: 66520180
18 PRKAR1A NM_002734.4(PRKAR1A): c.464C> T (p.Ser155Leu) single nucleotide variant Uncertain significance GRCh38 Chromosome 17, 68524039: 68524039
19 PRKAR1A NM_002734.4(PRKAR1A): c.101C> G (p.Ser34Cys) single nucleotide variant Uncertain significance GRCh38 Chromosome 17, 68515500: 68515500
20 PRKAR1A NM_002734.4(PRKAR1A): c.101C> G (p.Ser34Cys) single nucleotide variant Uncertain significance GRCh37 Chromosome 17, 66511641: 66511641
21 PRKAR1A NM_002734.4(PRKAR1A): c.782A> G (p.Lys261Arg) single nucleotide variant Uncertain significance GRCh38 Chromosome 17, 68528882: 68528882
22 PRKAR1A NM_002734.4(PRKAR1A): c.782A> G (p.Lys261Arg) single nucleotide variant Uncertain significance GRCh37 Chromosome 17, 66525023: 66525023
23 PRKAR1A NM_002734.4(PRKAR1A): c.662_663delTG (p.Val221Glufs) deletion Pathogenic GRCh38 Chromosome 17, 68525866: 68525867
24 PRKAR1A NM_002734.4(PRKAR1A): c.662_663delTG (p.Val221Glufs) deletion Pathogenic GRCh37 Chromosome 17, 66522007: 66522008
25 PRKAR1A NM_002734.4(PRKAR1A): c.349-5T> C single nucleotide variant Uncertain significance GRCh37 Chromosome 17, 66519861: 66519861
26 PRKAR1A NM_002734.4(PRKAR1A): c.349-5T> C single nucleotide variant Uncertain significance GRCh38 Chromosome 17, 68523720: 68523720
27 PRKAR1A NC_000017.11: g.(?_68515394)_(68530455_?)del deletion Pathogenic GRCh37 Chromosome 17, 66511535: 66526596
28 PRKAR1A NC_000017.11: g.(?_68515394)_(68530455_?)del deletion Pathogenic GRCh38 Chromosome 17, 68515394: 68530455
29 PRKAR1A NM_002734.4(PRKAR1A): c.973+3A> T single nucleotide variant Uncertain significance GRCh37 Chromosome 17, 66526145: 66526145
30 PRKAR1A NM_002734.4(PRKAR1A): c.973+3A> T single nucleotide variant Uncertain significance GRCh38 Chromosome 17, 68530004: 68530004
31 PRKAR1A NM_002734.4(PRKAR1A): c.892-26_905del deletion Likely pathogenic GRCh37 Chromosome 17, 66526035: 66526074
32 PRKAR1A NM_002734.4(PRKAR1A): c.892-26_905del deletion Likely pathogenic GRCh38 Chromosome 17, 68529894: 68529933
33 PRKAR1A NM_002734.4(PRKAR1A): c.296C> T (p.Ala99Val) single nucleotide variant Uncertain significance GRCh37 Chromosome 17, 66519015: 66519015
34 PRKAR1A NM_002734.4(PRKAR1A): c.296C> T (p.Ala99Val) single nucleotide variant Uncertain significance GRCh38 Chromosome 17, 68522874: 68522874
35 PRKAR1A NM_002734.4(PRKAR1A): c.151A> G (p.Arg51Gly) single nucleotide variant Uncertain significance GRCh38 Chromosome 17, 68515550: 68515550
36 PRKAR1A NM_002734.4(PRKAR1A): c.151A> G (p.Arg51Gly) single nucleotide variant Uncertain significance GRCh37 Chromosome 17, 66511691: 66511691
37 PRKAR1A NC_000017.11: g.(?_68512379)_(68530459_?)del deletion Pathogenic GRCh37 Chromosome 17, 66508520: 66526600
38 PRKAR1A NC_000017.11: g.(?_68512379)_(68530459_?)del deletion Pathogenic GRCh38 Chromosome 17, 68512379: 68530459
39 PRKAR1A NM_002734.4(PRKAR1A): c.858A> G (p.Gly286=) single nucleotide variant Likely benign rs746582369 GRCh37 Chromosome 17, 66525099: 66525099
40 PRKAR1A NM_002734.4(PRKAR1A): c.858A> G (p.Gly286=) single nucleotide variant Likely benign rs746582369 GRCh38 Chromosome 17, 68528958: 68528958
41 PRKAR1A NM_002734.4(PRKAR1A): c.693T> C (p.Tyr231=) single nucleotide variant Likely benign rs1555814113 GRCh37 Chromosome 17, 66522038: 66522038
42 PRKAR1A NM_002734.4(PRKAR1A): c.693T> C (p.Tyr231=) single nucleotide variant Likely benign rs1555814113 GRCh38 Chromosome 17, 68525897: 68525897
43 PRKAR1A NM_002734.4(PRKAR1A): c.571G> A (p.Ala191Thr) single nucleotide variant Uncertain significance rs1555814054 GRCh37 Chromosome 17, 66521916: 66521916
44 PRKAR1A NM_002734.4(PRKAR1A): c.571G> A (p.Ala191Thr) single nucleotide variant Uncertain significance rs1555814054 GRCh38 Chromosome 17, 68525775: 68525775
45 PRKAR1A NM_002734.4(PRKAR1A): c.528G> A (p.Val176=) single nucleotide variant Likely benign rs752927621 GRCh37 Chromosome 17, 66521078: 66521078
46 PRKAR1A NM_002734.4(PRKAR1A): c.528G> A (p.Val176=) single nucleotide variant Likely benign rs752927621 GRCh38 Chromosome 17, 68524937: 68524937
47 PRKAR1A NM_002734.4(PRKAR1A): c.478G> A (p.Ala160Thr) single nucleotide variant Uncertain significance rs765675434 GRCh37 Chromosome 17, 66520194: 66520194
48 PRKAR1A NM_002734.4(PRKAR1A): c.478G> A (p.Ala160Thr) single nucleotide variant Uncertain significance rs765675434 GRCh38 Chromosome 17, 68524053: 68524053
49 PRKAR1A NM_002734.4(PRKAR1A): c.177+1G> A single nucleotide variant Pathogenic rs1555811753 GRCh37 Chromosome 17, 66511718: 66511718
50 PRKAR1A NM_002734.4(PRKAR1A): c.177+1G> A single nucleotide variant Pathogenic rs1555811753 GRCh38 Chromosome 17, 68515577: 68515577

Expression for Carney Complex, Type 1

Search GEO for disease gene expression data for Carney Complex, Type 1.

Pathways for Carney Complex, Type 1

GO Terms for Carney Complex, Type 1

Sources for Carney Complex, Type 1

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