RDS
MCID: RSP019
MIFTS: 56

Respiratory Distress Syndrome in Premature Infants (RDS)

Categories: Rare diseases, Respiratory diseases

Aliases & Classifications for Respiratory Distress Syndrome in Premature Infants

MalaCards integrated aliases for Respiratory Distress Syndrome in Premature Infants:

Name: Respiratory Distress Syndrome in Premature Infants 57 75 29
Hyaline Membrane Disease 59 75 73
Infant Acute Respiratory Distress Syndrome 59
Neonatal Respiratory Distress Syndrome 59
Respiratory Distress Syndrome, Newborn 73
Infant Respiratory Distress Syndrome 59
Hyaline Membrane Disease, Formerly 57
Rds of Prematurity 57
Rds in Prematurity 75
Infant Ards 59
Rds 75

Characteristics:

Orphanet epidemiological data:

59
infant acute respiratory distress syndrome
Inheritance: Not applicable; Prevalence: 1-5/10000 (Europe); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
isolated cases
multifactorial

Miscellaneous:
onset at birth
may be associated with polymorphisms in some surfactant genes, including sftpa1 , sftpb , and sftpc


HPO:

32
respiratory distress syndrome in premature infants:
Onset and clinical course congenital onset
Inheritance sporadic multifactorial inheritance


Classifications:

Orphanet: 59  
Rare respiratory diseases


External Ids:

OMIM 57 267450
Orphanet 59 ORPHA70587
UMLS via Orphanet 74 C0852283 C0020192 C0035220
ICD10 via Orphanet 34 P22.0
MedGen 42 C1968593
MeSH 44 D006819

Summaries for Respiratory Distress Syndrome in Premature Infants

OMIM : 57 The main cause of respiratory distress syndrome (RDS) in premature infants is a developmental deficiency of pulmonary surfactant. The frequency of RDS is inversely proportional to gestational age. However, not all infants born prematurely develop RDS, suggesting that there may be susceptibility factors. Because multiple factors can contribute to the pathogenesis of RDS specifically in premature infants, the etiology is considered to be multifactorial (summaries by Ramet et al., 2000; Clark and Clark, 2005). Pathogenic germline mutations in several genes involved in surfactant metabolism, including SFTPB (178640) and SFTPC (178620), can cause clinical features of respiratory distress syndrome in term neonates, children, and adults, disorders referred to as 'surfactant metabolism dysfunction' (see, e.g., SMDP1, 265120). Susceptibility to the development of RDS in premature infants may be associated with polymorphisms in surfactant genes, such as surfactant protein A1 (SFTPA1; 178630), SFTPB, and SFTPC (see MOLECULAR GENETICS). (267450)

MalaCards based summary : Respiratory Distress Syndrome in Premature Infants, also known as hyaline membrane disease, is related to newborn respiratory distress syndrome and pneumonia, and has symptoms including dyspnea, respiratory distress and apnea. An important gene associated with Respiratory Distress Syndrome in Premature Infants is SFTPB (Surfactant Protein B), and among its related pathways/superpathways are Metabolism of proteins and Diseases of metabolism. The drugs Poractant alfa and Carbon monoxide have been mentioned in the context of this disorder. Affiliated tissues include lung, bone and kidney, and related phenotypes are respiratory distress and atelectasis

UniProtKB/Swiss-Prot : 75 Respiratory distress syndrome in premature infants: A lung disease affecting usually premature newborn infants. It is characterized by deficient gas exchange, diffuse atelectasis, high- permeability lung edema and fibrin-rich alveolar deposits called 'hyaline membranes'.

Wikipedia : 76 Infant respiratory distress syndrome (IRDS), also called neonatal respiratory distress syndrome... more...

Related Diseases for Respiratory Distress Syndrome in Premature Infants

Diseases related to Respiratory Distress Syndrome in Premature Infants via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 155)
# Related Disease Score Top Affiliating Genes
1 newborn respiratory distress syndrome 33.0 ABCA3 SFTPB SFTPC
2 pneumonia 30.4 SFTPB SFTPC
3 adult respiratory distress syndrome 29.9 SFTPB SFTPC
4 diaphragmatic hernia, congenital 29.2 SFTPC SFTPB NKX2-1 GRP
5 lung disease 28.8 SFTPC SFTPB SFTPA1 NKX2-1 GRP ABCA3
6 choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction 12.0
7 respiratory distress syndrome, infant 11.9
8 restrictive dermopathy, lethal 11.8
9 reticular dysgenesis 11.7
10 renal hypodysplasia/aplasia 1 11.0
11 renal hypodysplasia/aplasia 2 11.0
12 radin blood group antigen 11.0
13 refsum disease, classic 11.0
14 retinal degeneration 10.5
15 retinitis 10.4
16 retinitis pigmentosa 10.4
17 leber congenital amaurosis 4 10.4
18 rhabdomyosarcoma 10.4
19 bronchopulmonary dysplasia 10.3
20 interstitial emphysema 10.3
21 patent ductus arteriosus 1 10.1
22 pulmonary fibrosis 10.1 SFTPA1 SFTPC
23 pulmonary immaturity 10.1 SFTPB SFTPC
24 haemophilus influenzae 10.1
25 diaphragm disease 10.1 SFTPB SFTPC
26 pneumothorax 10.1
27 acute respiratory distress syndrome 10.1 SFTPB SFTPC
28 pulmonary alveolar proteinosis 10.1 SFTPB SFTPC
29 desquamative interstitial pneumonia 10.1 ABCA3 SFTPC
30 hemangioma of lung 10.0 NKX2-1 SFTPB
31 hemangioma 10.0 NKX2-1 SFTPB
32 cone-rod dystrophy 2 10.0
33 fundus dystrophy 10.0
34 pulmonary sclerosing hemangioma 10.0 NKX2-1 SFTPB
35 sclerosing hemangioma 10.0 NKX2-1 SFTPB
36 respiratory system benign neoplasm 10.0 NKX2-1 SFTPB
37 funisitis 10.0
38 idiopathic interstitial pneumonia 10.0 SFTPA1 SFTPC
39 cocaine antenatal exposure 10.0
40 disseminated intravascular coagulation 10.0
41 large cell carcinoma 10.0 NKX2-1 SFTPB
42 macular dystrophy, patterned, 1 10.0
43 retinoblastoma 10.0
44 embryonal rhabdomyosarcoma 10.0
45 butterfly-shaped pigment dystrophy 10.0
46 neonatal respiratory failure 9.9 SFTPC SFTPB ABCA3
47 respiratory failure 9.9 NKX2-1 SFTPB SFTPC
48 respiratory system cancer 9.9 GRP NKX2-1
49 fundus albipunctatus 9.9
50 disorganization, mouse, homolog of 9.9

Graphical network of the top 20 diseases related to Respiratory Distress Syndrome in Premature Infants:



Diseases related to Respiratory Distress Syndrome in Premature Infants

Symptoms & Phenotypes for Respiratory Distress Syndrome in Premature Infants

Symptoms via clinical synopsis from OMIM:

57
Respiratory:
dyspnea
tachypnea
respiratory insufficiency, neonatal

Prenatal Manifestations Delivery:
premature delivery, less than 37 weeks' gestation

Respiratory Lung:
atelectasis
decreased surfactant
lung edema
fibrin-rich alveolar deposits, 'hyaline membranes'
diffuse reticulogranular pattern seen on chest radiograph


Clinical features from OMIM:

267450

Human phenotypes related to Respiratory Distress Syndrome in Premature Infants:

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 respiratory distress 32 HP:0002098
2 atelectasis 32 HP:0100750
3 premature birth 32 HP:0001622
4 tachypnea 32 HP:0002789
5 neonatal respiratory distress 32 HP:0002643
6 pulmonary edema 32 HP:0100598
7 disseminated intravascular coagulation 32 HP:0005521

UMLS symptoms related to Respiratory Distress Syndrome in Premature Infants:


dyspnea, respiratory distress, apnea, hemoptysis, coughing, hoarseness, cheyne-stokes respiration

MGI Mouse Phenotypes related to Respiratory Distress Syndrome in Premature Infants:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.63 ABCA3 GRP NKX2-1 SFTPB SFTPC SOD2
2 mortality/aging MP:0010768 9.43 ABCA3 NKX2-1 SFTPA1 SFTPB SFTPC SOD2
3 respiratory system MP:0005388 9.02 ABCA3 NKX2-1 SFTPA1 SFTPB SFTPC

Drugs & Therapeutics for Respiratory Distress Syndrome in Premature Infants

Drugs for Respiratory Distress Syndrome in Premature Infants (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 33)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Poractant alfa Approved Phase 4 129069-19-8
2
Carbon monoxide Approved, Investigational Phase 4 630-08-0 281
3 Beractant Approved Phase 4 108778-82-1
4 Neurotransmitter Agents Phase 4,Not Applicable
5 Antimetabolites Phase 4
6 Pulmonary Surfactants Phase 4,Phase 1,Phase 2
7 Respiratory System Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
8 tannic acid Approved Phase 2, Phase 3,Not Applicable
9
Benzocaine Approved, Investigational Phase 2, Phase 3,Not Applicable 94-09-7, 1994-09-7 2337
10
Betamethasone Approved, Vet_approved Phase 2, Phase 3 378-44-9 9782
11 Anti-Asthmatic Agents Phase 2, Phase 3,Not Applicable
12 Pharmaceutical Solutions Phase 2, Phase 3,Phase 1
13 Anti-Inflammatory Agents Phase 2, Phase 3,Phase 1
14 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2, Phase 3
15 Hormone Antagonists Phase 2, Phase 3
16 Betamethasone benzoate Phase 2, Phase 3
17 Betamethasone sodium phosphate Phase 2, Phase 3
18 Betamethasone Valerate Phase 2, Phase 3 2152-44-5
19 Hormones Phase 2, Phase 3
20 Betamethasone-17,21-dipropionate Phase 2, Phase 3
21 glucocorticoids Phase 2, Phase 3
22
Nitric Oxide Approved Not Applicable 10102-43-9 145068
23
Nimodipine Approved, Investigational Not Applicable 66085-59-4 4497
24 Calamus Not Applicable
25 Protective Agents Not Applicable
26 Vasodilator Agents Not Applicable
27 Bronchodilator Agents Not Applicable
28 Antioxidants Not Applicable
29 Autonomic Agents Not Applicable
30 Free Radical Scavengers Not Applicable
31 Peripheral Nervous System Agents Not Applicable
32 Endothelium-Dependent Relaxing Factors Not Applicable
33 Lecithin

Interventional clinical trials:

(show all 26)
# Name Status NCT ID Phase Drugs
1 Effects of Bolus Surfactant Therapy on Peripheral Perfusion Index and Tissue Carbon Monoxide Completed NCT01923844 Phase 4 exogenous surfactant
2 NIV Strategies for RDS in Preterm Infants. NIV (Non Invasive Ventilation), RDS (Respiratory Distress Syndrome) Completed NCT02259400 Phase 2, Phase 3
3 Does a Rescue Course of Betamethasone in Pregnant Women With PPROM Decrease Neonatal Morbidity? Recruiting NCT02939742 Phase 2, Phase 3 Betamethasone;Placebo
4 Safety, Pk and Anti-inflammatory Effects of CC10 Protein in Premature Infants With Respiratory Distress Syndrome (RDS) Completed NCT01473264 Phase 1, Phase 2 recombinant human CC10 (rhCC10);recombinant human CC10 (rhCC10);placebo
5 Efficacy of Recombinant Human Clara Cell 10 Protein (rhCC10) Administered to Premature Neonates With Respiratory Distress Syndrome Active, not recruiting NCT01941745 Phase 2 Half normal saline;Low Dose rhCC10;High dose rhCC10
6 Feasibility Study of Aerosolized Surfaxin in the Prevention of Respiratory Distress Syndrome (RDS) in Premature Infants Terminated NCT00807235 Phase 2 Aerosolized lucinactant;Aerosolized lucinactant
7 First In Human Study on Synthetic Surfactant CHF 5633 in Respiratory Distress Syndrome Completed NCT01651637 Phase 1 synthetic surfactant (CHF5633)
8 Seattle-PAP Bubble Nasal CPAP and Work of Breathing Completed NCT02210026 Phase 1
9 Study of Respiratory Physiology During High Flow Nasal Cannula Treatment in Preterm Neonates. Unknown status NCT02200900 Not Applicable
10 Immediate Treatment Outcomes of b-CPAP vs Oxygen Therapy in Preterm Babies Presenting With RDS at KCMC Completed NCT03620448 Not Applicable
11 Comparison of Two Nasal Interface for CPAP in Preterm Completed NCT03212508
12 Successful Extubation and Noninvasive Ventilation in Preterm ≤ 1500g Terms Completed NCT02396693 Not Applicable
13 Respiratory Pattern During Neurally Adjusted Ventilator Assist (NAVA) in Preterm Infants Completed NCT02770976 Not Applicable
14 Inhaled Nitric Oxide (iNO) as an Adjunct to Neonatal Resuscitation Completed NCT01220687 Not Applicable iNO
15 Clinical RD (Respiratory Distress) Score for Objective Decision Making for Surfactant Therapy Completed NCT03273764
16 Effect of Nasal Continuous Positive Airway Pressure on The Pharyngeal Swallow in Neonates Completed NCT02661256 Not Applicable
17 The Role of Circuit Flow During Mechanical Ventilation of Neonates Recruiting NCT03306524 Not Applicable
18 Effect of Steroid Administration on Maternal Blood Levels of hLPCAT1 mRNA Recruiting NCT03562182
19 Risk Factors of Meconium Obstruction and Respiratory Distress Syndrome in Preterm Infants Recruiting NCT03513640
20 Safety and Efficacy Study of the Draeger Babylog VN500 Device in HFOV Mode in VLBW Neonates Active, not recruiting NCT02445040 Not Applicable
21 Fast Assessment of Surfactant Deficiency to Speed up Treatment Active, not recruiting NCT03235882
22 High Frequency Oscillatory Ventilation Combined With Intermittent Sigh Breaths: Effects on Lung Volume Monitored by Electric Tomography Impedance. Active, not recruiting NCT01962818 Not Applicable
23 Physiological Changes With High-Flow Nasal Cannula Not yet recruiting NCT03700606 Not Applicable
24 Enteral Nutrition Tolerance And REspiratory Support (ENTARES) Not yet recruiting NCT03548324 Not Applicable
25 Nasal High-frequency Jet Ventilation (nHFJV) Following Extubation in Preterm Infants Not yet recruiting NCT03558737 Not Applicable
26 Use of Gentle Synchronized Negative Pressure in Helping Babies Breathe Not yet recruiting NCT03510169 Not Applicable

Search NIH Clinical Center for Respiratory Distress Syndrome in Premature Infants

Inferred drug relations via UMLS 73 / NDF-RT 51 :


Genetic Tests for Respiratory Distress Syndrome in Premature Infants

Genetic tests related to Respiratory Distress Syndrome in Premature Infants:

# Genetic test Affiliating Genes
1 Respiratory Distress Syndrome in Premature Infants 29

Anatomical Context for Respiratory Distress Syndrome in Premature Infants

MalaCards organs/tissues related to Respiratory Distress Syndrome in Premature Infants:

41
Lung, Bone, Kidney, Fetal Lung, Testes, Thyroid, Skeletal Muscle

Publications for Respiratory Distress Syndrome in Premature Infants

Articles related to Respiratory Distress Syndrome in Premature Infants:

(show top 50) (show all 566)
# Title Authors Year
1
Hyaline membrane disease (HMD): an historical and Oslerian perspective. ( 30291319 )
2018
2
Different ventilation modes combined with ambroxol in the treatment of respiratory distress syndrome in premature infants. ( 28352342 )
2017
3
50 years ago in the Journal of Pediatrics: surface properties and lipids from lungs of infants with hyaline membrane disease. ( 25620514 )
2015
4
The role of surfactant and non-invasive mechanical ventilation in early management of respiratory distress syndrome in premature infants. ( 25124970 )
2014
5
Diagnostic value of gastric shake test for hyaline membrane disease in preterm infant. ( 25114671 )
2014
6
Early surfactant for respiratory distress syndrome in premature infants. ( 24049954 )
2013
7
Lucinactant for the prevention of respiratory distress syndrome in premature infants. ( 23473590 )
2013
8
High frequency oscillatory ventilation versus synchronized intermittent mandatory ventilation in preterm neonates with hyaline membrane disease: a randomized controlled trial. ( 22700666 )
2012
9
Observational study to compare the clinical efficacy of the natural surfactants Alveofact and Curosurf in the treatment of respiratory distress syndrome in premature infants. ( 16698258 )
2007
10
Intrauterine tobacco smoke exposure and hyaline membrane disease amongst triplets. ( 16147688 )
2005
11
The association between hyaline membrane disease and preeclampsia. ( 15507975 )
2004
12
Diagnostic imaging of hyaline membrane disease. ( 15587869 )
2004
13
Caesarean route of delivery and hyaline membrane disease: a hospital-based case-control study in Greater Beirut. ( 14629318 )
2003
14
Early administration of the second dose of surfactant (beractant) in the treatment of severe hyaline membrane disease. ( 11332171 )
2001
15
Surfactant therapy for hyaline membrane disease: the Chandigarh experience. ( 11418729 )
2001
16
Hyaline membrane disease in a term neonate. ( 11563254 )
2001
17
Surfactant deficiency in hyaline membrane disease: the story of discovery. ( 10764292 )
2000
18
Effects of inhaled nitric oxide on gas exchange and acute lung injury in premature lambs with moderate hyaline membrane disease. ( 10973544 )
2000
19
Continuous tracheal gas insufflation in preterm infants with hyaline membrane disease. A prospective randomized trial. ( 10988090 )
2000
20
Radiological analysis of hyaline membrane disease after exogenous surfactant treatment. ( 9880619 )
1999
21
A controlled trial of antepartum glucocorticoid treatment for prevention of the respiratory distress syndrome in premature infants, by G. C. Liggins, MB, PhD, FRCOG, and R. N. Howie, MB, MRACP, Pediatrics, 1972;50:515-525. ( 9651447 )
1998
22
Inhaled nitric oxide neither alters oxidative stress parameters nor induces lung inflammation in premature lambs with moderate hyaline membrane disease. ( 9535535 )
1998
23
Endothelin A receptor blockade decreases pulmonary vascular resistance in premature lambs with hyaline membrane disease. ( 9702910 )
1998
24
Tracheal aspirate surface tension in babies with hyaline membrane disease: effects of synthetic surfactant replacement. ( 9773912 )
1998
25
Continuous tracheal gas insufflation enables a volume reduction strategy in hyaline membrane disease: technical aspects and clinical results. ( 9840243 )
1998
26
Surfactant treatment may accelerate epithelial cell regeneration in hyaline membrane disease of the newborn. ( 9890252 )
1998
27
Randomised controlled trial of low dose fentanyl infusion in preterm infants with hyaline membrane disease. ( 10194990 )
1998
28
Changes in anti-oxidant enzymes and lipid peroxidation in hyaline membrane disease. ( 10773913 )
1998
29
Antenatal ambroxol treatment does not prevent the respiratory distress syndrome in premature infants. ( 9177984 )
1997
30
Prenatal ritodrine administration and the incidence of respiratory distress syndrome in premature infants. ( 9134506 )
1997
31
Effects of inhaled nitric oxide on pulmonary edema and lung neutrophil accumulation in severe experimental hyaline membrane disease. ( 9098845 )
1997
32
The effects of surfactant on haemodynamics in hyaline membrane disease. ( 9135282 )
1997
33
Lung function and airway responsiveness in children and adolescents after hyaline membrane disease: a matched cohort study. ( 9150328 )
1997
34
Pulmonary function in infants with neonatal chronic lung disease with or without hyaline membrane disease at birth. ( 9230255 )
1997
35
Pregnancy-induced hypertension and hyaline membrane disease. ( 9252255 )
1997
36
Hyaline membrane disease (HMD) therapy in Latin America: impact of exogenous surfactant administration on newborn survival, morbidity and use of resources. ( 9288665 )
1997
37
Bilateral multicystic kidney dysplasia in a fetus with neonatal pulmonary hyaline membrane disease: a case report. ( 9509666 )
1997
38
Hyaline membrane disease. ( 8778912 )
1996
39
Serial assessment of ductus arteriosus hemodynamics in hyaline membrane disease. ( 8951268 )
1996
40
Synthetic surfactant for rescue treatment of respiratory distress syndrome in premature infants weighing from 700 to 1350 grams: impact on hospital resource use and charges. ( 7815233 )
1995
41
Effect of ductal patency on organ blood flow and pulmonary function in the preterm baboon with hyaline membrane disease. ( 8001369 )
1995
42
Hyaline membrane disease. ( 8597849 )
1995
43
Validation of a nitrogen washout system to measure functional residual capacity in premature infants with hyaline membrane disease. ( 8649921 )
1995
44
Intraairway Feulgen-positive bodies in hyaline membrane disease of the newborn. ( 8736600 )
1995
45
Assisted ventilation for hyaline membrane disease. ( 8772883 )
1995
46
Timing of transfer of babies with hyaline membrane disease from regional centres to level 3 nurseries. ( 8924318 )
1995
47
Inhaled nitric oxide improves gas exchange and lowers pulmonary vascular resistance in severe experimental hyaline membrane disease. ( 7808839 )
1994
48
Morphology of pulmonary extralobar sequestration in neonatal death by hyaline membrane disease. ( 7808976 )
1994
49
Hyaline membrane disease in black newborns: does fetal lung maturation occur earlier? ( 7958158 )
1994
50
Newer strategies in the prevention of hyaline membrane disease. ( 7990997 )
1994

Variations for Respiratory Distress Syndrome in Premature Infants

Expression for Respiratory Distress Syndrome in Premature Infants

Search GEO for disease gene expression data for Respiratory Distress Syndrome in Premature Infants.

Pathways for Respiratory Distress Syndrome in Premature Infants

Pathways related to Respiratory Distress Syndrome in Premature Infants according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.15 ABCA3 GRP SFTPA1 SFTPB SFTPC
2
Show member pathways
11.3 SFTPA1 SFTPB SFTPC
3 11.06 SFTPA1 SFTPC
4
Show member pathways
10.56 ABCA3 SFTPA1 SFTPB SFTPC
5
Show member pathways
10.53 SFTPA1 SFTPB SFTPC

GO Terms for Respiratory Distress Syndrome in Premature Infants

Cellular components related to Respiratory Distress Syndrome in Premature Infants according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.77 ABCA3 GRP SFTPA1 SFTPB SFTPC
2 multivesicular body GO:0005771 9.32 SFTPA1 SFTPB
3 multivesicular body lumen GO:0097486 9.26 SFTPB SFTPC
4 alveolar lamellar body GO:0097208 9.16 ABCA3 SFTPB
5 clathrin-coated endocytic vesicle GO:0045334 9.13 SFTPA1 SFTPB SFTPC
6 lamellar body GO:0042599 8.8 SFTPA1 SFTPB SFTPC

Biological processes related to Respiratory Distress Syndrome in Premature Infants according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lipid transport GO:0006869 9.26 ABCA3 SFTPA1
2 cellular protein metabolic process GO:0044267 9.26 ABCA3 SFTPA1 SFTPB SFTPC
3 animal organ morphogenesis GO:0009887 9.16 NKX2-1 SFTPB
4 respiratory gaseous exchange GO:0007585 8.8 SFTPA1 SFTPB SFTPC

Molecular functions related to Respiratory Distress Syndrome in Premature Infants according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lipid transporter activity GO:0005319 8.62 ABCA3 SFTPA1

Sources for Respiratory Distress Syndrome in Premature Infants

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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