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MCID: DWN001
MIFTS: 71

Down Syndrome

Categories: Cardiovascular diseases, Eye diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Down Syndrome

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MalaCards integrated aliases for Down Syndrome:

Name: Down Syndrome 57 11 19 42 58 75 53 41 2 43 14 36 16 71 31 33
Trisomy 21 57 19 42 58 2 14 71
Complete Trisomy 21 Syndrome 11 28 5 38
Down's Syndrome 11 19 42
Trisomy 21 Syndrome 11 33
Down Syndrome, Susceptibility to 5
Down's Syndrome - Trisomy 21 11
Chromosome 21 Trisomy 33
Abnormal Autosomes 21 33
Downs Syndrome 11
Trisomy 21 Nos 33
G Trisomy 11
47,xx,+21 42
47,xy,+21 42
Trisomy G 42

Characteristics:


Inheritance:

Isolated cases 57

Prevelance:

6-9/10000 (Worldwide, France, Germany, Belgium, Italy, Netherlands, Spain, United Kingdom, Switzerland, Poland, Hungary, United Kingdom) 1-5/10000 (Worldwide, Europe, Portugal, Denmark, Croatia) >1/1000 (Europe, Norway, Ireland, Ukraine, Japan, United States, South Africa) 58

Age Of Onset:

Antenatal,Neonatal 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
meiotic origin >95% maternal, mostly meiosis i
increased recurrence risk with parental translocation
incidence, 1 in 650-1000 live births


Classifications:

MalaCards categories:
Global: Rare diseases Genetic diseases Fetal diseases
Anatomical: Neuronal diseases Eye diseases Cardiovascular diseases
See all MalaCards categories (disease lists)
ICD10: 31 32
ICD11: 33
Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Rare cardiac malformations
Developmental anomalies during embryogenesis


Sources

Summaries for Down Syndrome

About this section

MedlinePlus Genetics: 42 Down syndrome is a chromosomal condition that is associated with intellectual disability, a characteristic facial appearance, and weak muscle tone (hypotonia) in infancy. All affected individuals experience cognitive delays, but the intellectual disability is usually mild to moderate.People with Down syndrome often have a characteristic facial appearance that includes a flattened appearance to the face, outside corners of the eyes that point upward (upslanting palpebral fissures), small ears, a short neck, and a tongue that tends to stick out of the mouth. Affected individuals may have a variety of birth defects. Many people with Down syndrome have small hands and feet and a single crease across the palms of the hands. About half of all affected children are born with a heart defect. Digestive abnormalities, such as a blockage of the intestine, are less common.Individuals with Down syndrome have an increased risk of developing several medical conditions. These include gastroesophageal reflux, which is a backflow of acidic stomach contents into the esophagus, and celiac disease, which is an intolerance of a wheat protein called gluten. About 15 percent of people with Down syndrome have an underactive thyroid gland (hypothyroidism). The thyroid gland is a butterfly-shaped organ in the lower neck that produces hormones. Individuals with Down syndrome also have an increased risk of hearing and vision problems. Additionally, a small percentage of children with Down syndrome develop cancer of blood-forming cells (leukemia).Delayed development and behavioral problems are often reported in children with Down syndrome. Affected individuals can have growth problems and their speech and language develop later and more slowly than in children without Down syndrome. Additionally, speech may be difficult to understand in individuals with Down syndrome. Behavioral issues can include attention problems, obsessive/compulsive behavior, and stubbornness or tantrums. A small percentage of people with Down syndrome are also diagnosed with developmental conditions called autism spectrum disorders, which affect communication and social interaction.People with Down syndrome often experience a gradual decline in thinking ability (cognition) as they age, usually starting around age 50. Down syndrome is also associated with an increased risk of developing Alzheimer disease, a brain disorder that results in a gradual loss of memory, judgment, and ability to function. Approximately half of adults with Down syndrome develop Alzheimer disease. Although Alzheimer disease is usually a disorder that occurs in older adults, people with Down syndrome commonly develop this condition earlier, in their fifties or sixties.

MalaCards based summary: Down Syndrome, also known as trisomy 21, is related to myeloproliferative syndrome, transient and chromosomal disease. An important gene associated with Down Syndrome is DCR (Down Syndrome Chromosome Region), and among its related pathways/superpathways is MicroRNAs in cardiomyocyte hypertrophy. The drugs Budesonide and Fluticasone have been mentioned in the context of this disorder. Affiliated tissues include thyroid, heart and brain, and related phenotypes are intellectual disability and short neck

CDC: 2 Down syndrome is a condition in which a person has an extra chromosome. Chromosomes are small "packages" of genes in the body. They determine how a baby's body forms during pregnancy and how the baby's body functions as it grows in the womb and after birth. Typically, a baby is born with 46 chromosomes. Babies with Down syndrome have an extra copy of one of these chromosomes, chromosome 21. A medical term for having an extra copy of a chromosome is ‘trisomy.' Down syndrome is also referred to as Trisomy 21. This extra copy changes how the baby's body and brain develop, which can cause both mental and physical challenges for the baby. Even though people with Down syndrome might act and look similar, each person has different abilities. People with Down syndrome usually have an IQ (a measure of intelligence) in the mildly-to-moderately low range and are slower to speak than other children.

MedlinePlus: 41 Down syndrome is a condition in which a person is born with an extra copy of chromosome 21. People with Down syndrome can have physical problems, as well as intellectual disabilities. Every person born with Down syndrome is different. People with the syndrome may also have other health problems. They may be born with heart disease. They may have dementia. They may have hearing problems and problems with the intestines, eyes, thyroid, and skeleton. The chance of having a baby with Down syndrome increases as a woman gets older. Down syndrome cannot be cured. Early treatment programs can help improve skills. They may include speech, physical, occupational, and/or educational therapy. With support and treatment, many people with Down syndrome live happy, productive lives. NIH: National Institute of Child Health and Human Development

GARD: 19 Down syndrome is a chromosome disorder associated with intellectual disability, a characteristic facial appearance, with small nose and an upward slant to the eyes, and low muscle tone in infancy. The degree of intellectual disability varies from mild to moderate. People with Down syndrome may also be born with various health concerns such as heart defects or digestive abnormalities, as well as short stature and a single deep crease across the center of the palm. They also have an increased risk to develop gastroesophageal reflux, celiac disease, hypothyroidism, hearing and vision problems, leukemia, and Alzheimer disease. Down syndrome is caused by having three copies of chromosome 21 (called trisomy 21) instead of the usual two copies and is typically not inherited.

Orphanet: 58 A total autosomal trisomy that is caused by the presence of a third (partial or total) copy of chromosome 21 and that is characterized by variable intellectual disability, muscular hypotonia, and joint laxity, often associated with a characteristic facial dysmorphism and various anomalies such as cardiac, gastrointestinal, neurosensorial or endocrine defects.

OMIM®: 57 Down syndrome, the most frequent form of mental retardation caused by a microscopically demonstrable chromosomal aberration, is characterized by well-defined and distinctive phenotypic features and natural history. It is caused by triplicate state (trisomy) of all or a critical portion of chromosome 21. (190685) (Updated 08-Dec-2022)

Disease Ontology: 11 A chromosomal disease that is characterized by flat-looking facial features and weak muscle tone (hypotonia) in infancy and is caused by trisomy of all or a critical portion of chromosome 21 and is associated with intellectual disability.

Wikipedia: 75 Down syndrome or Down's syndrome, also known as trisomy 21, is a genetic disorder caused by the presence... more...
Sources

Related Diseases for Down Syndrome

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Diseases related to Down Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 1773)
# Related Disease Score Top Affiliating Genes
1 myeloproliferative syndrome, transient 32.7 GATA1 DYRK1A
2 chromosomal disease 31.0 RCAN1 MIR155 GATA1 DYRK1A DSCAM
3 myeloid leukemia associated with down syndrome 11.4
4 ayme-gripp syndrome 11.3
5 acute megakaryoblastic leukemia in down syndrome 11.3
6 acute megakaryoblastic leukemia without down syndrome 11.2
7 acute megakaryocytic leukemia 11.2
8 leukemia, acute lymphoblastic 11.1
9 childhood acute megakaryoblastic leukemia 11.1
10 leukemia, acute myeloid 11.1
11 hypotonia 11.1
12 atrioventricular septal defect 11.1
13 coloboma of macula 11.0
14 chylothorax, congenital 11.0
15 macroglossia 11.0
16 childhood leukemia 11.0
17 alzheimer disease, familial, 1 11.0
18 syringoma 10.9
19 ring chromosome 21 10.9
20 mydriatic response to pharmacologic agents 10.8
21 atrioventricular septal defect 4 10.8
22 atrioventricular septal defect 5 10.8
23 dementia 10.8
24 hypothyroidism 10.8
25 apnea, obstructive sleep 10.8
26 autism 10.7
27 autism spectrum disorder 10.7
28 sleep apnea 10.7
29 leukemia 10.7
30 amyloidosis 10.7
31 heart septal defect 10.7
32 myeloproliferative neoplasm 10.7
33 myeloid leukemia 10.7
34 acute myeloid leukemia with recurrent genetic anomaly 10.7
35 nondisjunction 10.6
36 ventricular septal defect 10.6
37 acute leukemia 10.6
38 celiac disease 1 10.6
39 chromosome 16 trisomy 10.6
40 pulmonary hypertension 10.6
41 neural tube defects 10.6
42 orofaciodigital syndrome viii 10.6
43 fragile x syndrome 10.5
44 turner syndrome 10.5
45 atrial heart septal defect 10.5
46 congenital hemidysplasia with ichthyosiform erythroderma and limb defects 10.5
47 children's interstitial lung disease 10.5
48 moyamoya disease 1 10.5
49 neural tube defects, folate-sensitive 10.5
50 heart disease 10.5

Comorbidity relations with Down Syndrome via Phenotypic Disease Network (PDN):


Acute Cystitis

Graphical network of the top 20 diseases related to Down Syndrome:



Diseases related to Down Syndrome
Sources

Symptoms & Phenotypes for Down Syndrome

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Human phenotypes related to Down Syndrome:

58 30 (show top 50) (show all 79)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0001249
2 short neck 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0000470
3 hypotonia 58 30 Very rare (1%) Very frequent (99-80%)
 HP:0001252
4 depressed nasal bridge 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0005280
5 brachycephaly 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0000248
6 flat face 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0012368
7 thickened nuchal skin fold 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0000474
8 epicanthus 58 30 Very rare (1%) Very frequent (99-80%)
 HP:0000286
9 joint laxity 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0001388
10 upslanted palpebral fissure 58 30 Very rare (1%) Very frequent (99-80%)
 HP:0000582
11 brachydactyly 58 30 Very rare (1%) Very frequent (99-80%)
 HP:0001156
12 round ear 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0100830
13 developmental regression 58 30 Frequent (33%) Frequent (79-30%)
 HP:0002376
14 macroglossia 58 30 Frequent (33%) Frequent (79-30%)
 HP:0000158
15 narrow palate 58 30 Frequent (33%) Frequent (79-30%)
 HP:0000189
16 umbilical hernia 58 30 Frequent (33%) Frequent (79-30%)
 HP:0001537
17 short nose 58 30 Frequent (33%) Frequent (79-30%)
 HP:0003196
18 thick lower lip vermilion 58 30 Frequent (33%) Frequent (79-30%)
 HP:0000179
19 microdontia 58 30 Frequent (33%) Frequent (79-30%)
 HP:0000691
20 obesity 58 30 Frequent (33%) Frequent (79-30%)
 HP:0001513
21 abnormality of immune system physiology 58 30 Frequent (33%) Frequent (79-30%)
 HP:0010978
22 prematurely aged appearance 58 30 Frequent (33%) Frequent (79-30%)
 HP:0007495
23 decreased fertility 58 30 Frequent (33%) Frequent (79-30%)
 HP:0000144
24 narrow mouth 58 30 Frequent (33%) Frequent (79-30%)
 HP:0000160
25 open mouth 58 30 Frequent (33%) Frequent (79-30%)
 HP:0000194
26 abnormality of the fontanelles or cranial sutures 58 30 Frequent (33%) Frequent (79-30%)
 HP:0000235
27 depressed nasal ridge 58 30 Frequent (33%) Frequent (79-30%)
 HP:0000457
28 sandal gap 58 30 Very rare (1%) Frequent (79-30%)
 HP:0001852
29 downturned corners of mouth 58 30 Frequent (33%) Frequent (79-30%)
 HP:0002714
30 clinodactyly of the 5th finger 58 30 Frequent (33%) Frequent (79-30%)
 HP:0004209
31 bilateral single transverse palmar creases 58 30 Frequent (33%) Frequent (79-30%)
 HP:0007598
32 protruding tongue 58 30 Very rare (1%) Frequent (79-30%)
 HP:0010808
33 abnormality of the lymphatic system 58 30 Frequent (33%) Frequent (79-30%)
 HP:0100763
34 abnormality of cardiovascular system morphology 30 Frequent (33%) HP:0030680
35 gait disturbance 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0001288
36 hypothyroidism 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0000821
37 cataract 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0000518
38 type ii diabetes mellitus 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0005978
39 strabismus 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0000486
40 myopia 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0000545
41 renal hypoplasia/aplasia 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0008678
42 conductive hearing impairment 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0000405
43 anal atresia 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0002023
44 aganglionic megacolon 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0002251
45 acute megakaryocytic leukemia 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0006733
46 impaired pain sensation 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0007328
47 sparse hair 30 Occasional (7.5%) HP:0008070
48 nystagmus 30 Very rare (1%) HP:0000639
49 tetralogy of fallot 30 Very rare (1%) HP:0001636
50 patent ductus arteriosus 30 Very rare (1%) HP:0001643

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Endocrine Features:
hypothyroidism

Head And Neck Head:
brachycephaly

Neoplasia:
acute megakaryocytic leukemia
leukemia (both all and aml)

Skeletal Hands:
single transverse palmar crease
short, broad hands
fifth finger mid-phalanx hypoplasia

Neurologic Central Nervous System:
alzheimer disease
mental retardation
hypotonia, poor moro reflex

Abdomen Gastrointestinal:
imperforate anus
hirschsprung disease
duodenal stenosis/atresia

Cardiovascular Heart:
congenital heart defect
atrioventricular canal

Head And Neck Face:
flat facial profile

Hematology:
leukemoid reactions

Growth Height:
short stature

Skeletal Limbs:
joint laxity

Head And Neck Mouth:
protruding tongue

Skin Nails Hair Skin:
single transverse palmar crease
excess nuchal skin

Skeletal Spine:
atlantoaxial instability

Head And Neck Ears:
conductive hearing loss
small ears
folded helix

Head And Neck Eyes:
epicanthal folds
upslanting palpebral fissures
iris brushfield spots

Skeletal Pelvis:
hypoplastic iliac wings
shallow acetabulum

Clinical features from OMIM®:

190685 (Updated 08-Dec-2022)

Sources

Drugs & Therapeutics for Down Syndrome

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Drugs for Down Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 537)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Budesonide Approved Phase 4 51333-22-3 5281004 40000 63006
2
Fluticasone Approved, Experimental Phase 4 90566-53-3 4659387 5311101
3
Oxytocin Approved, Vet_approved Phase 4 50-56-6 439302 53477758
4
Dopamine Approved Phase 4 62-31-7, 51-61-6 681
5
Memantine Approved, Investigational Phase 4 41100-52-1, 19982-08-2 4054
6
Aluminum hydroxide Approved, Investigational Phase 4 21645-51-2
7
Petrolatum Approved, Investigational Phase 4 8009-03-8
8
Entecavir Approved, Investigational Phase 4 142217-69-4 153941
9
Telbivudine Approved, Investigational Phase 4 3424-98-4 159269
10
Benzocaine Approved, Investigational Phase 4 1994-09-7, 94-09-7 2337
11
Tannic acid Approved Phase 4 1401-55-4 16129878 16129778
12
Fluoxetine Approved, Vet_approved Phase 4 54910-89-3 3386
13
Afatinib Approved Phase 4 439081-18-2, 850140-72-6 53445376 10184653
14
Venlafaxine Approved Phase 4 99300-78-4, 93413-69-5 5656
15
Norepinephrine Approved Phase 4 51-41-2 439260
16
Citalopram Approved Phase 4 59729-32-7, 59729-33-8 2771
17
Dexetimide Withdrawn Phase 4 21888-98-2 30843
18 interferons Phase 4
19 Anti-Allergic Agents Phase 4
20 Interferon-alpha Phase 4
21 Budesonide, Formoterol Fumarate Drug Combination Phase 4
22 Fluticasone-Salmeterol Drug Combination Phase 4
23 Xhance Phase 4
24 Formoterol Fumarate Phase 4
25
Salmeterol Xinafoate Phase 4 94749-08-3
26 Dopamine Agents Phase 4
27 Excitatory Amino Acid Antagonists Phase 4
28 Antiparkinson Agents Phase 4
29 Emollients Phase 4
30 Immunosuppressive Agents Phase 4
31 Immunologic Factors Phase 4
32 Neurotransmitter Agents Phase 4
33 Psychotropic Drugs Phase 4
34 Antidepressive Agents Phase 4
35 Serotonin Uptake Inhibitors Phase 4
36 Cytochrome P-450 Enzyme Inhibitors Phase 4
37 Protein Kinase Inhibitors Phase 4
38 Mitogens Phase 4
39
Fingolimod Hydrochloride Phase 4 162359-56-0
40 Serotonin and Noradrenaline Reuptake Inhibitors Phase 4
41
Serotonin Investigational, Nutraceutical Phase 4 50-67-9 5202
42
Miconazole Approved, Investigational, Vet_approved Phase 3 22916-47-8 4189
43
Clotrimazole Approved, Vet_approved Phase 3 23593-75-1 2812
44
Tocopherol Approved, Investigational Phase 3 1406-66-2
45
Sorafenib Approved, Investigational Phase 3 284461-73-0 216239
46
Levonorgestrel Approved, Investigational Phase 3 797-63-7 13109
47
Estradiol Approved, Investigational, Vet_approved Phase 3 50-28-2 5757
48
Ethinylestradiol Approved Phase 3 57-63-6 5991
49
Polyestradiol phosphate Approved Phase 3 28014-46-2
50
Norgestrel Approved Phase 3 6533-00-2

Interventional clinical trials:

(show top 50) (show all 695)
# Name Status NCT ID Phase Drugs
1 Interferon for the Intervention of Molecular Relapse in t (8; 21) AML After Allo-HSCT Unknown status NCT02027064 Phase 4 Interferon-alpha
2 A Randomized Controlled Trial to Compare Sublingual and Buccal Misoprostol Regimens After Mifepristone for Termination of Pregnancy 13 - 21 Weeks From Last Menstrual Period (LMP) Unknown status NCT02708446 Phase 4 Mifepristone;Buccal misoprostol;Sublingual misoprostol
3 Onset of Action of Advair HFA 115/21 in Comparison to Symbicort pMDI 160/4.5 Measured by Impulse Oscillometry, IOS. Unknown status NCT00867737 Phase 4 Advair HFA MDI 115/21;Symbicort 160/4.5 pMDI
4 The Effect of 21-Days Intranasal Oxytocin on Clinical Symptoms and Social Function in Patients With Post Traumatic Stress Disorder (PTSD), a Randomized Controled Trail Unknown status NCT02336568 Phase 4 Oxytoine;PLACEBO
5 High Dose Icotinib in Advanced Non-small Cell Lung Cancer With EGFR 21 Exon Mutation (INCREASE): a Randomized, Open-label Study Unknown status NCT02404675 Phase 4 icotinib
6 A Sixteen-Week, Randomized, Double Blind, Placebo-Controlled Evaluation of the Efficacy, Tolerability and Safety of Memantine Hydrochloride on Enhancing the Cognitive Abilities of Young Adults With Down Syndrome Completed NCT01112683 Phase 4 Memantine;Placebo
7 A Phase IV Open, Randomized, Controlled Study to Evaluate the Safety and Immunogenicity of a Pediatric Presentation (0.25 ml) of the Virosomal Hepatitis A Virus (HAV) Vaccine HAVpur in Healthy Young Children Aged Between and Including 18 Months to 47 Months, Using a 0/6 Month Immunization Schedule Completed NCT01349829 Phase 4
8 Evaluation of the Safety and Efficacy of the Product Bepantol® Derma Spray After the Dermatological Procedure in the Face - 21 Days of Follow-up. Completed NCT03853538 Phase 4 BAY207543 (Bepanthol, Bepantol® Derma Spray)
9 Safety and Efficacy Evaluation of the Use of Bepantol® Derma Spray After Laser Depilation in the Inguinal Region in Adult Women - 21 Days Use at Home Completed NCT03853525 Phase 4 BAY207543 (Bepanthol, Bepantol® Derma Spray)
10 Safety Assessment, Instrumental and Perceived Efficacy 21 Days of Use at Home - Bepantol Derma Spray® Dermal and Gynecological Acceptability Assessment. Completed NCT03853512 Phase 4 BAY207543 (Bepanthol, Bepantol® Derma Spray)
11 An Extension to A Randomized, Open-label, Controlled, Multicenter, Exploratory Trial to Characterize the Results of Daily Oral Administration of Telbivudine (LDT600) 600 mg or Entecavir (ETV) 0.5 mg Given Over 12 Weeks on the Kinetics of Hepatitis B Virus (HBV) DNA in Adults With HBeAg-positive, Compensated Chronic Hepatitis B (CHB) (An Open-label Multicenter, follow-on Trial of the Safety of Oral Administration of Telbivudine (LDT600) 600 mg Over 21 Months in Adults With HBeAg-positive Ompensated Chronic Hepatitis B (CHB)) Completed NCT00467545 Phase 4 telbivudine
12 A Single Arm Phase IV Study of Afatinib in Elderly Patients With Stage IV or Recurrent Non-Small Cell Lung Cancer Whose Tumors Have Epidermal Growth Factor Receptor (EGFR) Exon 19 Deletions or Exon 21(L858R) Substitution Mutations Completed NCT02514174 Phase 4 Afatinib
13 Fluoxetine Treatment of Depression in Adults With Down Syndrome Recruiting NCT05458479 Phase 4 Fluoxetine
14 Low Interventional Cohort Study of Myocarditis/Pericarditis Associated With COMIRNATY in Persons Less Than 21 Years of Age Not yet recruiting NCT05295290 Phase 4
15 Use of Liquid Stable Levothyroxine in Trisomy 21 Pediatric Patients Terminated NCT04747275 Phase 4 Oral tablet levothyroxine (L-T4);Liquid stable levothyroxine (L-T4) Tirosint-SOL
16 An Open-label, Single-arm Phase IV Study of Afatinib in Patients With Stage IV or Recurrent Non-Small Cell Lung Cancer Who Have Poor Performance Status and Whose Tumors Have the Common Epidermal Growth Factor Receptor (EGFR) Mutations, Exon 19 Deletions or Exon 21(L858R) Substitution Mutations Terminated NCT02695290 Phase 4 Afatinib
17 A 21-week, Multicenter, Open Label Study to Evaluate the Safety and Tolerability Profile of the Combination of a SSRI or SNRI Antidepressive Therapy With Oral Fingolimod in the Treatment of RRMS Patients With Mild to Moderate Depression Terminated NCT01436643 Phase 4 Venlafaxine;Fluoxetine;Citalopram;Fingolimod
18 Long-term Persistence of Hepatitis A Antibodies in Healthy Adults, Primed 21 to 25 Years Earlier With GSK Biologicals' Hepatitis A Vaccine Havrix® (SB208109) in Studies HAV-112 (208109/108) or HAV-123 (208109/114) Withdrawn NCT02124785 Phase 4
19 Multicenter Vitamin E Trial in Aging Persons With Down Syndrome Unknown status NCT00056329 Phase 3 Vitamin E;multivitamin;Placebo
20 Adjuvant Ganglioside GM2-KLH/QS-21 Vaccination: Post-Operative Adjuvant Ganglioside GM2-KLH/QS-21 (BMS-248479) Vaccination Treatment After Resection of Primary Cutaneous Melanoma Thicker Than 1.5mm (AJCC/UICC Stage II, T3-T4N0M0), a 2-Arm Multicenter Randomized Phase III Trial vs. Observation Unknown status NCT00005052 Phase 3
21 A Randomized Phase III Study to Compare Conventional Chemotherapy (CHOEP-14) + Rituximab vs High-dose Chemotherapy Followed by Autologous Stem Cell Transplantation (Mega-CHOEP-21) + Rituximab in Younger Patients With Aggressive NHL Unknown status NCT00129090 Phase 3 R-CHOEP 14 with 12x Rituximab
22 Community Interventions in Non-Medical Settings to Increase Informed Decision Making for Prostate Cancer Screening - Harvard - SIP 21-04 Unknown status NCT00207636 Phase 3
23 A National, Multi Center, Randomized, Open-label, Phase II Trial of Erlotinib Versus Combination of GC as (Neo)Adjuvant Treatment in Stage IIIA-N2 NSCLC With Sensitizing EGFR Mutation in Exon 19 or 21(EMERGING) Unknown status NCT01407822 Phase 2, Phase 3 Erlotinib;Gemcitabine/cisplatin
24 Multicenter Vitamin E Trial in Aging Persons With Down Syndrome Completed NCT01594346 Phase 3 Alpha-Tocopherol;Sugar Pill
25 One-year Double-blind Placebo-controlled Phase 2-3 Study to Evaluate the Effect of Oral Folinic Acid Treatment (1mg/kg/d) on the Psychomotor Development of Young Down Syndrome Patients Completed NCT00294593 Phase 2, Phase 3 folinic acid
26 Efficacy Assessment of Systematic Treatment With Folinic Acid and Thyroid Hormone on Psychomotor Development of Down Syndrome Young Children Completed NCT01576705 Phase 3 thyroid hormone and folinic acid
27 The Treatment of Down Syndrome Children With Acute Myeloid Leukemia (AML) and Myelodysplastic Syndromes (MDS) Under the Age of 4 Years Completed NCT00369317 Phase 3 asparaginase;daunorubicin hydrochloride;cytarabine;thioguanine;etoposide
28 Treatment of Children With Down Syndrome (DS) and Acute Myeloid Leukemia (AML), Myelodysplastic Syndrome (MDS), and Transient Myeloproliferative Disorder (TMD): A Phase III Group-Wide Study Completed NCT00003593 Phase 3 asparaginase;cytarabine;daunorubicin hydrochloride;methotrexate;therapeutic hydrocortisone;thioguanine
29 Study to Compare the Immunogenicity and Safety of GSK Biologicals' Novel Adjuvanted HBV Vaccine (0, 21-day Schedule) to a Double Dose of Engerix™ -B (0, 7, 21-day Schedule), in Pre-liver Transplant Patients ≥ 18 y, Boosted at Month 6-12 Completed NCT00697554 Phase 3
30 Randomized Study Comparing an Immuno-Chemotherapy With 6 Cycles of the Monoclonal Anti-CD20 Antibody Rituximab in Combination With 6 Cycles of Chemotherapy With CHOP ( Cyclophosphamide, Doxorubicin, Vincristine, and Prednisone) at 21-day Intervals or 14-day Intervals, Both With or Without Consolidating Radiotherapy or Large Tumour Masses (≥7.5 cm) and/or Extranodal Involvement in Patients With Aggressive CD20 B-Cell Lymphoma Aged 18 to 60 Years With Age-Adjusted IPI=1 (All) or IPI=0 With a Large Tumour Mass (≥7.5 cm) [UNFOLDER 21/14 Study] Completed NCT00278408 Phase 3 cyclophosphamide;doxorubicin hydrochloride;prednisone;vincristine sulfate
31 A Randomized Phase III Trial of IV Carboplatin (AUC 6) and Paclitaxel 175 mg/m2 Q 21 Days x 3 Courses Plus Low Dose Paclitaxel 40 mg/m2/wk Versus IV Carboplatin (AUC 6) and Paclitaxel 175 mg/m2 Q 21 Days x 3 Courses Plus Observation in Patients With Early Stage Ovarian Carcinoma Completed NCT00003644 Phase 3 carboplatin;paclitaxel
32 A Phase 3, Randomized, Observer-Blind, Multicenter, Noninferiority Study to Evaluate Safety and Immunogenicity of a Cell-Based Quadrivalent Subunit Influenza Virus Vaccine (QIVc) and a United States Licensed Quadrivalent Influenza Virus Vaccine (QIV) in Healthy Subjects 6 Months Through 47 Months Completed NCT04074928 Phase 3
33 A Multicenter, Randomized, Controlled, Double-masked, Crossover Design Study to Compare Efficacy and Assess Safety of CD07805/47 Gel 0.5% Applied Once Daily vs Azelaic Acid Gel 15% Applied Twice Daily in Subjects With Erythema of Rosacea Completed NCT01659853 Phase 3 CD07805/47 gel 0.5%/CD07805/47 Vehicle;azelaic acid gel 15%
34 A Multicenter, Open-Label Study to Evaluate the Long-Term Safety and Efficacy of CD07805/47 Gel 0.5% Applied Topically Once Daily for up to 52 Weeks in Subjects With Moderate to Severe Facial Erythema Associated With Rosacea Completed NCT01318733 Phase 3 CD07805/47 gel 0.5%
35 Phase 3 Efficacy and Safety Study of CD07805/47 Topical Gel in Subjects With Facial Erythema of Rosacea Completed NCT01789775 Phase 3 Drug: CD07805/47 gel;CD07805/47 gel Placebo
36 A Multicenter, Randomized Double-Blind, Vehicle-Controlled, Parallel Group Study to Demonstrate the Efficacy and Safety of CD07805/47 Gel Applied Topically Once Daily in Subjects With Moderate to Severe Facial Erythema Associated With Rosacea Completed NCT01355471 Phase 3 CD07805/47 Gel;Placebo
37 A Multicenter, Randomized Double-Blind, Vehicle-Controlled, Parallel Group Study to Demonstrate the Efficacy and Safety of CD07805/47 Gel Applied Topically Once Daily in Subjects With Moderate to Severe Facial Erythema Associated With Rosacea Completed NCT01355458 Phase 3 CD07805/47 gel;Placebo
38 A Randomized, Phase IIIB, Open-label, Two-arm, Multicenter, comparatiVe Study on Efficacy and Safety of Lipegfilgrastim (Lonquex, TEVA) in Comparison to Pegfilgrastim (Neulasta(R), Amgen) in Elderly Patients With Aggressive B Cell Non-HOdgkin Lymphomas at hIgh Risk for R-CHOP-21-inDuced Neutropenia - AVOID Neutropenia Completed NCT02044276 Phase 3 lipegfilgrastim;pegfilgrastim
39 A Multicentre, Randomized, Open-label Study to Evaluate the Efficacy andSafety of Fondaparinux Versus Low Molecular Weight Heparin(Nadroparin) in Patients Requiring Rigid or Semi-rigid Immobilization for at Least 21 Days and up to 45 Days Because of Isolated Non-surgical Below-Knee Injury Completed NCT00843492 Phase 3 Fondaparinux sodium;Nadroparin
40 A Randomised, Open-label, Multicenter Study Comparing the Efficacy and Safety of Medical Treatment With Octreotide Acetate 30 mg Administered Every 21 Days for 6 Months With That of Octreotide Acetate 60 mg Administered Every 28 Days for 6 Months in Acromegalic Patients With Uncontrolled Disease Completed NCT00372697 Phase 3 Octreotide acetate 30 mg suspension
41 A 21-Week, Open-label, Randomized, Controlled, Parallel-group, Multi-center Study Evaluating the Efficacy and Safety of HOE901-U300 Administered According to a Device-Supported Treat-to-target Regimen Versus Routine Titration in Patients With Type 2 Diabetes Mellitus Completed NCT02585674 Phase 3 Insulin glargine (U300)
42 A Randomized, Open-label, Multi-center Phase III Study of Erlotinib Versus Gemcitabine/Carboplatin in Chemo-naive Stage IIIB/IV Non-Small Cell Lung Cancer Patients With EGFR Exon 19 or 21 Mutation (Optimal) Completed NCT00874419 Phase 3 erlotinib;gemcitabine/carboplatin
43 An Open Lable Randomised Two -Arm Study to Assess the Safety and Efficacy of Paromomycin Administered Intramuscularly at Two Different Dosing Regimens (14 Days Versus 21 Days) for the Treatment of Indian Visceral Leishmaniasis (VL) Completed NCT00629031 Phase 3 Paromomycin
44 Intensified CHOP Plus Rituximab (R-CHOP 14) Versus CHOP Plus Rituximab (R-CHOP 21) and Frontline/Prophylactic Darbepoetin Alfa Treatment Versus Usual Symptomatic Treatment of Anemia in Patients Aged 60 to 80 Years With Diffuse Large B-cell Lymphoma. Completed NCT00144755 Phase 3 Darbepoetin alfa
45 A Phase III, Randomized, Placebo-Controlled, Multicenter Study of the Safety, Efficacy, and Pharmacokinetics of Oral Beclomethasone 17, 21-Dipropionate (BDP) in Conjunction With Ten Days of High-Dose Prednisone Therapy in the Treatment of Patients With Grade II Graft vs. Host Disease With Gastrointestinal Symptoms Completed NCT00043147 Phase 3 beclomethasone dipropionate;methylprednisolone;prednisone
46 Multi-Center, Double-Blind, Double-Dummy, Randomized, Parallel-Group Study to Evaluate Cycle Control, Bleeding Pattern, Blood Pressure, Lipid and Carbohydrate Metabolism of the Transdermal Contraceptive Patch (Material no. 80876395 / 2.1 mg Gestodene and 0.55 mg Ethinylestradiol) Versus an Oral Comparator Containing 20 µg Ethinylestradiol and 100 µg Levonorgestrel in a 21-day Regimen for 7 Cycles in 400 Women Completed NCT00920985 Phase 3 Gestodene/EE (FC Patch Low, BAY86-5016);Oral contraceptive (equivalent to the active treatment tablets of Levlite), 21-day blister SH D00593A
47 A Randomized Phase III Trial of Sequential Chemotherapy Using Doxorubicin, Paclitaxel, and Cyclophosphamide or Concurrent Doxorubicin and Cyclophosphamide Followed by Paclitaxel at 14 or 21 Day Intervals in Women With Node Positive Stage II/IIIA Breast Cancer Completed NCT00003088 Phase 3 cyclophosphamide;doxorubicin hydrochloride;paclitaxel
48 Multicenter, Open-label, Uncontrolled Study to Investigate the Efficacy and Safety of the Transdermal Contraceptive Patch Containing 0.55 mg Ethinyl Estradiol and 2.1 mg Gestodene in a 21-day Regimen for 13 Cycles in 1650 Healthy Female Subjects Completed NCT00910637 Phase 3 Gestodene/EE Patch (BAY86-5016)
49 Multicenter, Open-label, Uncontrolled Study to Investigate the Efficacy and Safety of the Transdermal Contraceptive Patch Containing 0.55 mg Ethinyl Estradiol and 2.1 mg Gestodene (Material no. 80876395) in a 21-day Regimen for 13 Cycles in 1650 Healthy Female Subjects Completed NCT00914693 Phase 3 Ethinylestradiol/Gestodene (BAY86-5016)
50 Open, Multicenter, Randomised, Controlled Phase IIIb Study Evaluating the Immunogenicity and Safety of Subcutaneous Versus Alternative Administration Route of Combined MeMuRu-OKA Vaccine to Healthy Children Aged 11 to 21 Months. Completed NCT00351923 Phase 3

Search NIH Clinical Center for Down Syndrome

Cochrane evidence based reviews: down syndrome

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Genetic Tests for Down Syndrome

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Genetic tests related to Down Syndrome:

# Genetic test Affiliating Genes
1 Complete Trisomy 21 Syndrome 28 GATA1
Sources

Anatomical Context for Down Syndrome

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Organs/tissues related to Down Syndrome:

MalaCards : Thyroid, Heart, Brain, Eye, Tongue, Myeloid, T Cells
Sources

Publications for Down Syndrome

About this section

Articles related to Down Syndrome:

(show top 50) (show all 55471)
# Title Authors PMID Year
1
A new mutation in the AFP gene responsible for a total absence of alpha feto-protein on second trimester maternal serum screening for Down syndrome. 53 62 57
18854864 2009
2
Mutations of JAK2 in acute lymphoblastic leukaemias associated with Down's syndrome. 53 62 57
18805579 2008
3
Synaptojanin 1-linked phosphoinositide dyshomeostasis and cognitive deficits in mouse models of Down's syndrome. 53 62 57
18591654 2008
4
NFAT dysregulation by increased dosage of DSCR1 and DYRK1A on chromosome 21. 53 62 57
16554754 2006
5
Methionine synthase (MTR) 2756 (A --> G) polymorphism, double heterozygosity methionine synthase 2756 AG/methionine synthase reductase (MTRR) 66 AG, and elevated homocysteinemia are three risk factors for having a child with Down syndrome. 53 62 5
12923861 2003
6
GATA1 mutations in transient leukemia and acute megakaryoblastic leukemia of Down syndrome. 53 62 57
12586620 2003
7
Mutagenesis of GATA1 is an initiating event in Down syndrome leukemogenesis. 53 62 57
12560215 2003
8
Acquired mutations in GATA1 in the megakaryoblastic leukemia of Down syndrome. 53 62 57
12172547 2002
9
Neuronal target genes of the neuron-restrictive silencer factor in neurospheres derived from fetuses with Down's syndrome: a gene expression study. 53 62 57
11830198 2002
10
Polymorphisms in genes involved in folate metabolism as maternal risk factors for Down syndrome. 53 62 5
10930360 2000
11
Abnormal folate metabolism and mutation in the methylenetetrahydrofolate reductase gene may be maternal risk factors for Down syndrome. 53 62 5
10500018 1999
12
A new human gene from the Down syndrome critical region encodes a proline-rich protein highly expressed in fetal brain and heart. 53 62 57
8595418 1995
13
Autoimmune predisposition in Down syndrome may result from a partial central tolerance failure due to insufficient intrathymic expression of AIRE and peripheral antigens. 62 57
25217160 2014
14
Domains of genome-wide gene expression dysregulation in Down's syndrome. 62 57
24740065 2014
15
Usp16 contributes to somatic stem-cell defects in Down's syndrome. 62 57
24025767 2013
16
Translating dosage compensation to trisomy 21. 62 57
23863942 2013
17
Survival among people with Down syndrome: a nationwide population-based study in Denmark. 62 57
22878506 2013
18
An excess of deleterious variants in VEGF-A pathway genes in Down-syndrome-associated atrioventricular septal defects. 62 57
23040494 2012
19
Over-expression of RCAN1 causes Down syndrome-like hippocampal deficits that alter learning and memory. 62 57
22511596 2012
20
A mouse model of Down syndrome trisomic for all human chromosome 21 syntenic regions. 62 57
20442137 2010
21
Tumour angiogenesis is reduced in the Tc1 mouse model of Down's syndrome. 62 57
20535211 2010
22
Deficiencies in the region syntenic to human 21q22.3 cause cognitive deficits in mice. 62 57
20512340 2010
23
Identification of a 21q22 duplication in a Silver-Russell syndrome patient further narrows down the Down syndrome critical region. 62 57
20101688 2010
24
Synergy of total PLAC4 RNA concentration and measurement of the RNA single-nucleotide polymorphism allelic ratio for the noninvasive prenatal detection of trisomy 21. 62 57
19892844 2010
25
Down syndrome: comments and reflections on the 50th anniversary of Lejeune's discovery. 62 57
19921741 2009
26
A new mouse model for the trisomy of the Abcg1-U2af1 region reveals the complexity of the combinatorial genetic code of down syndrome. 62 57
19783846 2009
27
Genotype-phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21. 62 57
19002211 2009
28
Species-specific transcription in mice carrying human chromosome 21. 62 57
18787134 2008
29
DYRK1A-dosage imbalance perturbs NRSF/REST levels, deregulating pluripotency and embryonic stem cell fate in Down syndrome. 62 57
18771760 2008
30
Trisomy represses Apc(Min)-mediated tumours in mouse models of Down's syndrome. 62 57
18172498 2008
31
Natural gene-expression variation in Down syndrome modulates the outcome of gene-dosage imbalance. 62 57
17668376 2007
32
Hematological abnormalities during the first week of life among neonates with Down syndrome: data from a multihospital healthcare system. 62 57
17163522 2007
33
CRELD1 mutations contribute to the occurrence of cardiac atrioventricular septal defects in Down syndrome. 62 57
17036335 2006
34
Genetic and other diseases in the pottery of Tumaco-La Tolita culture in Colombia-Ecuador. 62 57
16922718 2006
35
Increased App expression in a mouse model of Down's syndrome disrupts NGF transport and causes cholinergic neuron degeneration. 62 57
16815330 2006
36
Defective cerebellar response to mitogenic Hedgehog signaling in Down [corrected] syndrome mice. 62 57
16432181 2006
37
An aneuploid mouse strain carrying human chromosome 21 with Down syndrome phenotypes. 62 57
16179473 2005
38
The real earliest historical evidence of Down syndrome. 62 57
15578572 2005
39
Increased risk of symptomatic gallbladder disease in adults with Down syndrome. 62 57
15386474 2004
40
A chromosome 21 critical region does not cause specific Down syndrome phenotypes. 62 57
15499018 2004
41
Further early historical evidence of Down syndrome. 62 57
15057991 2004
42
Global disruption of the cerebellar transcriptome in a Down syndrome mouse model. 62 57
12913072 2003
43
Lower neonatal screening thyroxine concentrations in down syndrome newborns. 62 57
12679431 2003
44
An angel with Down syndrome in a sixteenth century Flemish Nativity painting. 62 57
12522800 2003
45
Mutation of the AML1/RUNX1 gene in a transient myeloproliferative disorder patient with Down syndrome. 62 57
12200707 2002
46
Altered metabolism of the amyloid beta precursor protein is associated with mitochondrial dysfunction in Down's syndrome. 62 57
11879646 2002
47
Neurodevelopmental delay, motor abnormalities and cognitive deficits in transgenic mice overexpressing Dyrk1A (minibrain), a murine model of Down's syndrome. 62 57
11555628 2001
48
Pulmonary edema in 6 children with Down syndrome during travel to moderate altitudes. 62 57
11483813 2001
49
Mice containing a human chromosome 21 model behavioral impairment and cardiac anomalies of Down's syndrome. 62 57
11371509 2001
50
Genome-wide variation in recombination in female meiosis: a risk factor for non-disjunction of chromosome 21. 62 57
10699174 2000
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Variations for Down Syndrome

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ClinVar genetic disease variations for Down Syndrome:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GATA1 NM_002049.4(GATA1):c.231_232dup (p.Tyr78fs) MICROSAT Pathogenic
 1068556 GRCh37: X:48650258-48650259
GRCh38: X:48791851-48791852
2 overlap with 219 genes GRCh37/hg19 21q11.2-22.3(chr21:14420615-48080926)x3 CN GAIN Pathogenic
 1705932 GRCh37: 21:14420615-48080926
GRCh38:
3 PIK3CA NM_006218.4(PIK3CA):c.3061T>C (p.Tyr1021His) SNV Pathogenic
 1691391 GRCh37: 3:178952006-178952006
GRCh38: 3:179234218-179234218
4 RNF212, LOC105374344 NR_134676.1(LOC105374344):n.52T>C SNV Risk Factor
 984916 rs62296477 GRCh37: 4:1107478-1107478
GRCh38: 4:1113690-1113690
5 MTRR NM_002454.3(MTRR):c.66A>G (p.Ile22Met) SNV Risk Factor
 7029 rs1801394 GRCh37: 5:7870973-7870973
GRCh38: 5:7870860-7870860
6 ALMS1 NM_001378454.1(ALMS1):c.8240T>G (p.Val2747Gly) SNV Uncertain Significance
 550971 rs188857186 GRCh37: 2:73717326-73717326
GRCh38: 2:73490199-73490199
7 COL11A2 NM_080680.3(COL11A2):c.3706C>T (p.Arg1236Cys) SNV Uncertain Significance
 907893 rs751612997 GRCh37: 6:33137252-33137252
GRCh38: 6:33169475-33169475
8 GATA1 NM_002049.4(GATA1):c.94G>A (p.Val32Ile) SNV Uncertain Significance
 465135 rs782698349 GRCh37: X:48649610-48649610
GRCh38: X:48791203-48791203

Copy number variations for Down Syndrome from CNVD:

6 (show all 17)
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 109509 17 26446120 26728821 Microduplications NF1 Down syndrome
2 157042 21 1 46944323 Trisomy 21 Down syndrome
3 157043 21 1 48129895 Copy number Down syndrome
4 158156 21 30500000 34700000 Triplication SYNJ1 Down syndrome
5 158600 21 34648096 34829283 Gain KCNE1 Down syndrome
6 158601 21 34648096 34829283 Gain KCNE2 Down syndrome
7 158634 21 34768340 34953503 Deletion Down syndrome
8 158784 21 36700000 41400000 Duplication Down syndrome
9 158857 21 37450801 37931211 Deletion Down syndrome
10 158867 21 37536287 37704000 Deletion Down syndrome
11 158887 21 37717328 37872927 Deletion Down syndrome
12 159445 21 42600000 48129895 Copy number COL6A1 Down syndrome
13 159886 21 45593807 45808641 Deletion Down syndrome
14 303383 21 37359533 37367328 Insertion PIGP Down syndrome
15 303384 21 37367440 37497278 Insertion TTC3 Down syndrome
16 303385 21 37517595 37561703 Insertion VPS26C Down syndrome
17 303386 21 37661728 37809549 Insertion DYRK1A Down syndrome
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Expression for Down Syndrome

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Search GEO for disease gene expression data for Down Syndrome.
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Pathways for Down Syndrome

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Pathways related to Down Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
MicroRNAs in cardiomyocyte hypertrophy 74
Show member pathways
 10.97 RCAN1 PIK3CA MIR125B2
Sources

GO Terms for Down Syndrome

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Biological processes related to Down Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 negative regulation of receptor signaling pathway via STAT GO:1904893 8.96 MIRLET7C MIR99A
2 negative regulation of interleukin-6-mediated signaling pathway GO:0070104 8.62 MIRLET7C MIR99A

Molecular functions related to Down Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 calcium-dependent protein serine/threonine phosphatase regulator activity GO:0008597 8.92 RCAN2 RCAN1
Sources

Sources for Down Syndrome

About this section
2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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