CHDTHP
MCID: CNG410
MIFTS: 55

Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly (CHDTHP)

Categories: Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Congenital Heart Defects, Hamartomas of Tongue, and...

MalaCards integrated aliases for Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly:

Name: Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly 58 76
Hamartoma 45 17 74
Chdthp 58 76
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome 60
Heart Defect, Tongue Hamartoma and Polysyndactyly 74
Orstavik Lindemann Solberg Syndrome 74
Ostravik-Lindemann-Solberg Syndrome 60

Characteristics:

Orphanet epidemiological data:

60
heart defect-tongue hamartoma-polysyndactyly syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: early childhood;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
three patients reported, one with a wdpcp mutation (last curated january 2015)


HPO:

33
congenital heart defects, hamartomas of tongue, and polysyndactyly:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 217085
MESH via Orphanet 46 C535849
ICD10 via Orphanet 35 Q87.8
UMLS via Orphanet 75 C2931046
Orphanet 60 ORPHA1338
MedGen 43 C1857587

Summaries for Congenital Heart Defects, Hamartomas of Tongue, and...

UniProtKB/Swiss-Prot : 76 Congenital heart defects, hamartomas of tongue, and polysyndactyly: A disease characterized by a constellation of anomalies including tongue hamartomas, polysyndactyly, and congenital heart defects such as atrioventricular canal and coarctation of the aorta.

MalaCards based summary : Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly, also known as hamartoma, is related to cowden syndrome 1 and tuberous sclerosis 2. An important gene associated with Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly is WDPCP (WD Repeat Containing Planar Cell Polarity Effector), and among its related pathways/superpathways are PI3K-Akt signaling pathway and Regulation of TP53 Activity. Affiliated tissues include tongue, liver and heart, and related phenotypes are hypertelorism and 2-3 finger syndactyly

Description from OMIM: 217085

Related Diseases for Congenital Heart Defects, Hamartomas of Tongue, and...

Diseases in the Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome family:

Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly

Diseases related to Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 502)
# Related Disease Score Top Affiliating Genes
1 cowden syndrome 1 33.5 PTEN TSC2
2 tuberous sclerosis 2 32.3 TSC1 TSC2
3 tuberous sclerosis 1 32.3 CCL26 TSC1 TSC2
4 peutz-jeghers syndrome 31.4 PTEN STK11 TSC1 TSC2
5 birt-hogg-dube syndrome 31.4 FLCN PTEN
6 juvenile polyposis syndrome 31.4 PTEN STK11
7 angiomyolipoma 30.3 CCL26 TSC1 TSC2
8 tuberous sclerosis 30.2 CCL26 STK11 TSC1 TSC2
9 lipomatosis, multiple 29.8 HMGA2 PTEN
10 cystic kidney disease 29.7 CCL26 TSC1 TSC2
11 pneumothorax 29.5 FLCN TSC1
12 kidney angiomyolipoma 29.5 FLCN TSC1 TSC2
13 renal cell carcinoma, nonpapillary 29.2 FLCN TSC1 TSC2
14 megalencephaly 29.1 PTEN STK11 TSC1
15 polycystic liver disease 1 with or without kidney cysts 29.1 FLCN TSC1 TSC2
16 hypothalamic hamartomas 12.6
17 congenital smooth muscle hamartoma 12.4
18 basaloid follicular hamartoma 12.3
19 hepatic cystic hamartoma 12.3
20 basaloid follicular hamartoma syndrome, generalized, autosomal dominant 12.2
21 giant mammary hamartoma 12.2
22 combined hamartoma of the retina and retinal pigment epithelium 12.2
23 angiomyomatous hamartoma 12.2
24 hamartoma, precalcaneal congenital fibrolipomatous 12.2
25 rhabdomyomatous mesenchymal hamartoma 12.1
26 cowden syndrome 12.1
27 pallister-hall syndrome 12.0
28 linear hamartoma syndrome 12.0
29 hypothalamic hamartomas with gelastic seizures 12.0
30 perlman syndrome 11.8
31 graham boyle troxell syndrome 11.7
32 heart defect-tongue hamartoma-polysyndactyly syndrome 11.7
33 nevus, epidermal 11.6
34 congenital mesoblastic nephroma 11.4
35 capillary hemangioma 11.3
36 becker nevus syndrome 11.3
37 odontoma 11.3
38 skin creases, congenital symmetric circumferential, 1 11.3
39 orofaciodigital syndrome i 11.3
40 orofaciodigital syndrome vi 11.2
41 curry-jones syndrome 11.2
42 bazex syndrome 11.1
43 trichoepithelioma, multiple familial, 1 11.1
44 castleman disease 11.0
45 linear verrucous nevus syndrome 11.0
46 hyperparathyroidism 2 with jaw tumors 11.0
47 orofaciodigital syndrome iv 11.0
48 megalencephaly-capillary malformation-polymicrogyria syndrome 11.0
49 cowden syndrome 4 11.0
50 cowden syndrome 5 11.0

Graphical network of the top 20 diseases related to Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly:



Diseases related to Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly

Symptoms & Phenotypes for Congenital Heart Defects, Hamartomas of Tongue, and...

Human phenotypes related to Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly:

33 60 (show all 12)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 33 occasional (7.5%) HP:0000316
2 2-3 finger syndactyly 60 33 Frequent (79-30%) HP:0001233
3 hamartoma of tongue 60 33 Very frequent (99-80%) HP:0011802
4 patent ductus arteriosus 60 Very frequent (99-80%)
5 cryptorchidism 60 Frequent (79-30%)
6 coarctation of aorta 33 HP:0001680
7 benign neoplasm of the central nervous system 60 Frequent (79-30%)
8 postaxial hand polydactyly 33 HP:0001162
9 subaortic stenosis 60 Very frequent (99-80%)
10 broad hallux 33 HP:0010055
11 complete atrioventricular canal defect 33 HP:0001674
12 subvalvular aortic stenosis 33 HP:0001682

Symptoms via clinical synopsis from OMIM:

58
Skeletal Hands:
postaxial polydactyly
syndactyly, fingers 2-3

Cardiovascular Heart:
congenital heart disease
atrioventricular canal

Head And Neck Eyes:
hypertelorism (in 1 patient)

Genitourinary Kidneys:
normal kidneys

Cardiovascular Vascular:
coarctation of the aorta

Neurologic Central Nervous System:
normal motor development
normal intellectual development

Head And Neck Mouth:
tongue polyps (hamartomas)
no tongue lobulation
no oral cleft

Skeletal Feet:
hallux duplication, bilateral
broad hallux, bilateral
syndactyly, toes 2-3

Clinical features from OMIM:

217085

MGI Mouse Phenotypes related to Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10 FLCN GLI3 PTEN STK11 TSC1 TSC2
2 cellular MP:0005384 9.98 FLCN GLI3 PTEN STK11 TSC1 TSC2
3 embryo MP:0005380 9.95 FLCN GLI3 PTEN STK11 TSC1 TSC2
4 growth/size/body region MP:0005378 9.91 FLCN GLI3 PTEN STK11 TSC1 TSC2
5 integument MP:0010771 9.72 GLI3 PTEN STK11 TSC1 TSC2
6 renal/urinary system MP:0005367 9.7 FLCN GLI3 PTEN STK11 TSC1 TSC2
7 neoplasm MP:0002006 9.65 FLCN PTEN STK11 TSC1 TSC2
8 respiratory system MP:0005388 9.35 GLI3 PTEN STK11 TSC1 WDPCP
9 vision/eye MP:0005391 9.02 GLI3 PTEN STK11 TSC1 WDPCP

Drugs & Therapeutics for Congenital Heart Defects, Hamartomas of Tongue, and...

Search Clinical Trials , NIH Clinical Center for Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly

Cochrane evidence based reviews: hamartoma

Genetic Tests for Congenital Heart Defects, Hamartomas of Tongue, and...

Anatomical Context for Congenital Heart Defects, Hamartomas of Tongue, and...

MalaCards organs/tissues related to Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly:

42
Tongue, Liver, Heart, Breast, Smooth Muscle, Retina, Lung

Publications for Congenital Heart Defects, Hamartomas of Tongue, and...

Articles related to Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly:

(show top 50) (show all 2998)
# Title Authors Year
1
Neurofolicullar hamartoma presenting as a rare adnexal neoplasm in association with basal cell carcinoma. ( 30858950 )
2019
2
Localized unilateral basaloid follicular hamartoma along Blaschko's lines on face. ( 29491193 )
2019
3
Cutaneous inflammation as a marker of malignant transformation in a patient with linear unilateral basaloid follicular hamartoma. ( 30246704 )
2019
4
OPTICAL COHERENCE TOMOGRAPHY AND OPTICAL COHERENCE TOMOGRAPHY ANGIOGRAPHY EVALUATION OF COMBINED HAMARTOMA OF THE RETINA AND RETINAL PIGMENT EPITHELIUM. ( 29370036 )
2019
5
Peripapillary versus macular combined hamartoma of the retina and retinal pigment epithelium: Imaging characteristics. ( 30689986 )
2019
6
Multimodal imaging evaluation of combined hamartoma of the retina and retinal pigment epithelium. ( 30764657 )
2019
7
Case Report: Focal Choroidal Excavation Underlying Combined Hamartoma of the Retina and Retinal Pigment Epithelium. ( 30801498 )
2019
8
Proliferating Neurocristic Hamartoma Arising in a Giant Congenital Nevus: Comparative Genomic Hybridization Findings. ( 30461421 )
2019
9
Giant Brunner's gland hamartoma causing retrograde jejuno-duodenal intussusception: A case report. ( 30671231 )
2019
10
Cystic lung lesions mimicking hydatidosis: hamartoma or benign metastazing leiomyoma? ( 30825451 )
2019
11
Effect of PTEN inactivating germline mutations on innate immune cell function and thyroid cancer-induced macrophages in patients with PTEN hamartoma tumor syndrome. ( 30670777 )
2019
12
Thalamic Hamartoma Presenting with Tremor. ( 30765986 )
2019
13
A Vasculitis-Associated Neuromuscular and Vascular Hamartoma Presenting as a Fatal Form of Abdominal Cocoon. ( 29992844 )
2019
14
Manifestation of a solitary retinal astrocytic hamartoma in a patient with Best macular dystrophy. ( 30582078 )
2019
15
A case of follicular thyroid carcinoma associated with phosphatase and tensin homologue hamartoma tumour syndrome. ( 30575166 )
2019
16
Morphological Changes of the Median Nerve After Carpal Tunnel Release in a Median Nerve Lipofibromatous Hamartoma. ( 30020093 )
2019
17
Eccrine hamartoma with spectrum of histologic findings associated with limb deformity. ( 29993126 )
2019
18
Myoepithelial Hamartoma in the Ampulla of Vater. ( 29857148 )
2019
19
Mesenchymal Hamartoma of the Liver and DICER1 Syndrome. ( 31067372 )
2019
20
Bilateral Facial Apocrine Fibrosing Hamartoma Mimicking Microcystic Adnexal Carcinoma. ( 31045870 )
2019
21
A Case of Mesenchymal Hamartoma of the Chest Wall in a 4-Month-Old Infant. ( 30979863 )
2019
22
Neuropsychiatric profile of paediatric hypothalamic hamartoma: systematic review and case series. ( 30977116 )
2019
23
Brunner's gland hamartoma with dysplasia, presenting as multiple duodenal polyps: An unexplored entity with literature review. ( 30971558 )
2019
24
A rare case of salivary gland choristoma in the middle ear with pharyngeal hamartoma. ( 30958449 )
2019
25
Episodes of prolonged "trance-like state" in an infant with hypothalamic hamartoma. ( 30943681 )
2019
26
Robot-assisted Resection of Endobronchial Lipomatous Hamartoma with Hilar Extension. ( 30931198 )
2019
27
Bilateral Eccrine Angiomatous Hamartoma with Symmetric Volar Wrist Nodules: A Case Report. ( 30920999 )
2019
28
Asymmetric gelastic seizure as a lateralizing sign in patients with hypothalamic hamartoma. ( 30884405 )
2019
29
Large Combined Hamartoma of the Retina and the Retinal Pigment Epithelium in a Healthy Young Boy. ( 30869763 )
2019
30
MRI of Lipofibromatous Hamartoma Involving Both the Median and Ulnar Nerve. ( 30851077 )
2019
31
Hamartoma of the Oral Cavity with Ectopic Meningothelial Elements in Infants: A Rare Entity with Report of Two Cases. ( 30840224 )
2019
32
Medallion-like dermal dendrocyte hamartoma: A rare congenital CD34-positive dermal lesion clinically and pathologically overlapping with fibroblastic connective tissue nevus. ( 30811625 )
2019
33
A Rare Case of Fibrous Hamartoma of Infancy: A Clinicopathological Diagnosis at a Tertiary Hospital, Eastern Nepal. ( 30809410 )
2019
34
A Case of Respiratory Epithelial Adenomatoid Hamartoma (REAH) in a Patient with History of Radiation Exposure. ( 30805238 )
2019
35
Clinical Features and Multi-Modality Imaging of Isolated Retinal Astrocytic Hamartoma. ( 30768223 )
2019
36
Giant hamartoma of lung presented with massive hemoptysis: A rare case report and review of the literature. ( 30719262 )
2019
37
Congenital simple hamartoma of the retinal pigment epithelium: What is the probable cause? ( 30696599 )
2019
38
Retinal sensitivity and photoreceptor arrangement changes secondary to congenital simple hamartoma of retinal pigment epithelium. ( 30675383 )
2019
39
Outcomes and imaging findings of respiratory epithelial adenomatoid hamartoma: a systematic review. ( 30657648 )
2019
40
Hypocellular Medallion-like Dermal Dendrocyte Hamartoma on the Abdomen of a 25 year old Male. ( 30635930 )
2019
41
Precalcaneal Congenital Fibrolipomatous Hamartoma: Rare or under-reported ? ( 30632637 )
2019
42
Bile Duct Hamartoma Mimicking Liver Metastasis in Suspected Porcelain Gallbladder: a Case Report. ( 30613924 )
2019
43
An unusual tumour: Hamartoma of mature cardiac myocytes. ( 30583832 )
2019
44
Improvement of Hypothalamic Hamartoma-Related Psychiatric Disorder After Stereotactic Laser Ablation: Case Report and Review of Literature. ( 30481631 )
2019
45
Mesenchymal hamartoma of the chest wall in a 10-year-old girl mimicking malignancy: a case report. ( 30374636 )
2019
46
Dermoscopy of folliculosebaceous cystic hamartoma. ( 30353542 )
2019
47
Intranodal Angiomyomatous Hamartoma in a Cynomolgus Monkey. ( 30585127 )
2018
48
Retinal astrocytoma in a young male with PTEN hamartoma tumor syndrome. ( 30447426 )
2018
49
PTCH1 Germline Mutations and the Basaloid Follicular Hamartoma Values in the Tumor Spectrum of Basal Cell Carcinoma Syndrome (NBCCS). ( 29277811 )
2018
50
Basaloid Follicular Hamartoma: A Case Report and a Novel Cosmetic Treatment. ( 29607000 )
2018

Variations for Congenital Heart Defects, Hamartomas of Tongue, and...

UniProtKB/Swiss-Prot genetic disease variations for Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly:

76
# Symbol AA change Variation ID SNP ID
1 WDPCP p.Asp54Asn VAR_073251 rs200322968

ClinVar genetic disease variations for Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly:

6 (show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 TSC1 NM_000368.4(TSC1): c.2356C> T (p.Arg786Ter) single nucleotide variant Pathogenic rs118203682 GRCh37 Chromosome 9, 135778027: 135778027
2 TSC1 NM_000368.4(TSC1): c.2356C> T (p.Arg786Ter) single nucleotide variant Pathogenic rs118203682 GRCh38 Chromosome 9, 132902640: 132902640
3 WDPCP NM_015910.6(WDPCP): c.552_553del (p.Cys185Phefs) deletion Pathogenic rs727503781 GRCh37 Chromosome 2, 63664635: 63664636
4 WDPCP NM_015910.6(WDPCP): c.552_553del (p.Cys185Phefs) deletion Pathogenic rs727503781 GRCh38 Chromosome 2, 63437501: 63437502
5 WDPCP NM_015910.6(WDPCP): c.160G> A (p.Asp54Asn) single nucleotide variant Uncertain significance rs200322968 GRCh37 Chromosome 2, 63719990: 63719990
6 WDPCP NM_015910.6(WDPCP): c.160G> A (p.Asp54Asn) single nucleotide variant Uncertain significance rs200322968 GRCh38 Chromosome 2, 63492856: 63492856
7 WDPCP NM_015910.6(WDPCP): c.176T> A (p.Ile59Asn) single nucleotide variant Uncertain significance rs202196322 GRCh37 Chromosome 2, 63714613: 63714613
8 WDPCP NM_015910.6(WDPCP): c.176T> A (p.Ile59Asn) single nucleotide variant Uncertain significance rs202196322 GRCh38 Chromosome 2, 63487479: 63487479
9 TSC2 NM_000548.4(TSC2): c.5160+4A> C single nucleotide variant Pathogenic rs45517403 GRCh37 Chromosome 16, 2138144: 2138144
10 TSC2 NM_000548.4(TSC2): c.5160+4A> C single nucleotide variant Pathogenic rs45517403 GRCh38 Chromosome 16, 2088143: 2088143
11 WDPCP NM_015910.6(WDPCP): c.1438G> A (p.Val480Ile) single nucleotide variant Uncertain significance rs201412509 GRCh38 Chromosome 2, 63382092: 63382092
12 WDPCP NM_015910.6(WDPCP): c.1438G> A (p.Val480Ile) single nucleotide variant Uncertain significance rs201412509 GRCh37 Chromosome 2, 63609227: 63609227

Expression for Congenital Heart Defects, Hamartomas of Tongue, and...

Search GEO for disease gene expression data for Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly.

Pathways for Congenital Heart Defects, Hamartomas of Tongue, and...

Pathways related to Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly according to GeneCards Suite gene sharing:

(show all 26)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.68 PTEN STK11 TSC1 TSC2
2
Show member pathways
12.64 PTEN STK11 TSC1 TSC2
3 12.28 PTEN STK11 TSC2
4
Show member pathways
12.27 PTEN TSC1 TSC2
5
Show member pathways
12.17 STK11 TSC1 TSC2
6
Show member pathways
12.15 STK11 TSC1 TSC2
7
Show member pathways
12.13 PTEN TSC1 TSC2
8 11.97 FLCN TSC1 TSC2
9
Show member pathways
11.95 PTEN TSC1 TSC2
10
Show member pathways
11.89 STK11 TSC1 TSC2
11 11.84 PTEN TSC1 TSC2
12 11.83 PTEN TSC1 TSC2
13
Show member pathways
11.79 STK11 TSC1 TSC2
14 11.64 PTEN STK11 TSC1 TSC2
15 11.63 PTEN TSC1 TSC2
16 11.51 PTEN TSC1 TSC2
17
Show member pathways
11.49 FLCN PTEN STK11 TSC1 TSC2
18 11.43 PTEN TSC1 TSC2
19 11.41 TSC1 TSC2
20 11.36 PTEN STK11 TSC1 TSC2
21 11.35 TSC1 TSC2
22 11.28 TSC1 TSC2
23 11.26 STK11 TSC2
24 11.09 TSC1 TSC2
25 11.06 STK11 TSC1 TSC2
26 11.01 PTEN TSC2

GO Terms for Congenital Heart Defects, Hamartomas of Tongue, and...

Cellular components related to Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cilium GO:0005929 9.33 FLCN GLI3 WDPCP
2 cell projection GO:0042995 9.26 GLI3 PTEN TSC1 WDPCP
3 TSC1-TSC2 complex GO:0033596 8.62 TSC1 TSC2

Biological processes related to Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly according to GeneCards Suite gene sharing:

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of apoptotic process GO:0043065 9.76 FLCN HMGA2 PTEN
2 heart development GO:0007507 9.71 GLI3 PTEN TSC2
3 regulation of cell cycle GO:0051726 9.61 PTEN TSC1 TSC2
4 embryonic digit morphogenesis GO:0042733 9.58 GLI3 WDPCP
5 negative regulation of cold-induced thermogenesis GO:0120163 9.57 FLCN STK11
6 positive regulation of autophagy GO:0010508 9.56 FLCN STK11
7 protein kinase B signaling GO:0043491 9.55 PTEN TSC2
8 kidney development GO:0001822 9.54 GLI3 TSC1 WDPCP
9 negative regulation of insulin receptor signaling pathway GO:0046627 9.52 TSC1 TSC2
10 embryonic organ development GO:0048568 9.51 GLI3 WDPCP
11 positive regulation of macroautophagy GO:0016239 9.49 TSC1 TSC2
12 positive regulation of transforming growth factor beta receptor signaling pathway GO:0030511 9.48 FLCN STK11
13 regulation of focal adhesion assembly GO:0051893 9.46 TSC1 WDPCP
14 negative regulation of phosphatidylinositol 3-kinase signaling GO:0014067 9.4 PTEN TSC2
15 negative regulation of protein kinase B signaling GO:0051898 9.33 FLCN PTEN TSC2
16 anoikis GO:0043276 9.32 STK11 TSC2
17 negative regulation of cell size GO:0045792 9.26 PTEN TSC1
18 negative regulation of TOR signaling GO:0032007 9.13 FLCN TSC1 TSC2
19 negative regulation of cell proliferation GO:0008285 9.02 GLI3 PTEN STK11 TSC1 TSC2

Molecular functions related to Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Hsp90 protein binding GO:0051879 8.62 TSC1 TSC2

Sources for Congenital Heart Defects, Hamartomas of Tongue, and...

3 CDC
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11 DGIdb
17 EFO
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75 UMLS via Orphanet
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