MCID: ALV007
MIFTS: 45

Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins

Categories: Genetic diseases, Respiratory diseases, Rare diseases, Cardiovascular diseases

Aliases & Classifications for Alveolar Capillary Dysplasia with Misalignment of Pulmonary...

MalaCards integrated aliases for Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins:

Name: Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins 54 24 25 56 71 29 13
Alveolar Capillary Dysplasia 25 71 69
Acdmpv 25 56 71
Congenital Alveolar Capillary Dysplasia 25 56
Acd 25 71
Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins and Other Congenital Anomalies 71
Alveolar Capillary Dysplasia with Misalignment of Pulmonary Vessels 56
Familial Persistent Pulmonary Hypertension of the Newborn 25
Persistent Fetal Circulation Syndrome 69
Misalignment of the Pulmonary Vessels 25
Acd/mpv 25

Characteristics:

Orphanet epidemiological data:

56
congenital alveolar capillary dysplasia
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Canada),<1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood;

OMIM:

54
Inheritance:
autosomal dominant

Miscellaneous:
lethal in the neonatal period


HPO:

32
alveolar capillary dysplasia with misalignment of pulmonary veins:
Mortality/Aging neonatal death
Inheritance autosomal recessive inheritance autosomal dominant inheritance


Classifications:

Orphanet: 56  
Rare respiratory diseases


Summaries for Alveolar Capillary Dysplasia with Misalignment of Pulmonary...

UniProtKB/Swiss-Prot : 71 Alveolar capillary dysplasia with misalignment of pulmonary veins: A rare developmental disorder characterized by abnormal development of the capillary vascular system in the lungs. Histological features include failure of formation and ingrowth of alveolar capillaries, medial muscular thickening of small pulmonary arterioles with muscularization of the intraacinar arterioles, thickened alveolar walls, and anomalously situated pulmonary veins running alongside pulmonary arterioles and sharing the same adventitial sheath. Less common features include a reduced number of alveoli and a patchy distribution of the histopathologic changes. Affected infants present with respiratory distress and the disease is fatal within the newborn period. Additional features include multiple congenital anomalies affecting the cardiovascular, gastrointestinal, genitourinary, and musculoskeletal systems, as well as disruption of the normal right- left asymmetry of intrathoracic or intraabdominal organs. ACDMPV is a rare cause of persistent pulmonary hypertension of the newborn, an abnormal physiologic state caused by failure of transition of the pulmonary circulation from the high pulmonary vascular resistance of the fetus to the low pulmonary vascular resistance of the newborn.

MalaCards based summary : Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins, also known as alveolar capillary dysplasia, is related to acd-related dyskeratosis congenita and alveolar capillary dysplasia, and has symptoms including patent ductus arteriosus, hydronephrosis and intestinal malrotation. An important gene associated with Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins is FOXF1 (Forkhead Box F1). The drugs Benzocaine and Nitric Oxide have been mentioned in the context of this disorder. Affiliated tissues include lung, brain and pancreas.

Genetics Home Reference : 25 Alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV) is a disorder affecting the development of the lungs and their blood vessels. The disorder affects the millions of small air sacs (alveoli) in the lungs and the tiny blood vessels (capillaries) in the alveoli. It is through these alveolar capillaries that inhaled oxygen enters the bloodstream for distribution throughout the body and carbon dioxide leaves the bloodstream to be exhaled.

OMIM : 54
Congenital alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is characterized histologically by failure of formation and ingrowth of alveolar capillaries that then do not make contact with alveolar epithelium, medial muscular thickening of small pulmonary arterioles with muscularization of the intraacinar arterioles, thickened alveolar walls, and anomalously situated pulmonary veins running alongside pulmonary arterioles and sharing the same adventitial sheath. Less common features include a reduced number of alveoli and a patchy distribution of the histopathologic changes. The disorder is associated with persistent pulmonary hypertension of the neonate and shows varying degrees of lability and severity (Boggs et al., 1994). Affected infants present with respiratory distress resulting from pulmonary hypertension in the early postnatal period, and the disease is uniformly fatal within the newborn period (Vassal et al., 1998). Additional features of ACDMPV include multiple congenital anomalies affecting the cardiovascular, gastrointestinal, genitourinary, and musculoskeletal systems, as well as disruption of the normal right-left asymmetry of intrathoracic or intraabdominal organs (Sen et al., 2004). (265380)

Related Diseases for Alveolar Capillary Dysplasia with Misalignment of Pulmonary...

Diseases related to Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 acd-related dyskeratosis congenita 12.1
2 alveolar capillary dysplasia 11.8
3 dyskeratosis congenita 11.6
4 persistent fetal circulation syndrome 11.4
5 hypoplastic left heart syndrome 10.1
6 pulmonary hypertension 9.9
7 amaurosis fugax 8.9 COL18A1 FOXF1 LINC01081
8 malonyl-coa decarboxylase deficiency 8.6 COL18A1 FOXF1 LINC01081

Graphical network of the top 20 diseases related to Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins:



Diseases related to Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins

Symptoms & Phenotypes for Alveolar Capillary Dysplasia with Misalignment of Pulmonary...

Symptoms via clinical synopsis from OMIM:

54

Prenatal Manifestations- Amniotic Fluid:
polyhydramnios

Abdomen- Gastroin testinal:
meckel diverticulum
duodenal atresia
intestinal malrotation

Abdomen- Pancreas:
annular pancreas

Respiratory- Lung:
abnormal lung lobation

Cardiovascular- Vascular:
alveolar capillary dysplasia (acd)
malposition of pulmonary vein branches adjacent to pulmonary artery branches (mpv)
deficient capillarization of airspace walls
increased muscularization of arterioles
neonatal pulmonary hypertension

Genitourinary- Bladder:
bladder dilatation

Genitourinary- Kidneys:
hydronephrosis

Genitourinary- Ureters:
hydroureter

Cardiovascular- Heart:
atrial septal defect (in some patients)
right-to-left shunt via the foramen ovale or ductus arteriosus or both

Respiratory:
pulmonary insufficiency

Abdomen- Biliary Tract:
gallbladder agenesis


Clinical features from OMIM:

265380

Human phenotypes related to Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins:

56 32 (show all 34)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 patent ductus arteriosus 56 32 Frequent (79-30%) HP:0001643
2 hydronephrosis 56 32 Occasional (29-5%) HP:0000126
3 intestinal malrotation 56 32 Frequent (79-30%) HP:0002566
4 annular pancreas 56 32 Occasional (29-5%) HP:0001734
5 atrial septal defect 32 occasional (7.5%) HP:0001631
6 polyhydramnios 32 HP:0001561
7 respiratory distress 56 Very frequent (99-80%)
8 ventricular septal defect 56 Occasional (29-5%)
9 tetralogy of fallot 56 Occasional (29-5%)
10 single umbilical artery 56 Occasional (29-5%)
11 hypertension 32 HP:0000822
12 meckel diverticulum 32 HP:0002245
13 pulmonary hypertension 56 Very frequent (99-80%)
14 duodenal atresia 32 HP:0002247
15 hydroureter 32 HP:0000072
16 tracheoesophageal fistula 56 Occasional (29-5%)
17 pulmonary arterial hypertension 32 HP:0002092
18 volvulus 56 Occasional (29-5%)
19 asplenia 56 Occasional (29-5%)
20 bicuspid aortic valve 56 Occasional (29-5%)
21 anal atresia 56 Occasional (29-5%)
22 hypoplastic left heart 56 Frequent (79-30%)
23 absent gallbladder 56 Occasional (29-5%)
24 aortic valve stenosis 56 Occasional (29-5%)
25 right-to-left shunt 32 HP:0001694
26 abnormal lung lobation 32 HP:0002101
27 pulmonary insufficiency 32 HP:0010444
28 aganglionic megacolon 56 Occasional (29-5%)
29 atrioventricular canal defect 56 Occasional (29-5%)
30 duodenal stenosis 56 Occasional (29-5%)
31 abnormality of the vertebrae 56 Occasional (29-5%)
32 atria septal defect 56 Occasional (29-5%)
33 pulmonary valve atresia 56 Occasional (29-5%)
34 abnormality of the pulmonary veins 32 HP:0011718

Drugs & Therapeutics for Alveolar Capillary Dysplasia with Misalignment of Pulmonary...

Drugs for Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 53)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Benzocaine Approved Phase 4,Phase 3 1994-09-7, 94-09-7 2337
2
Nitric Oxide Approved Phase 4,Phase 3,Phase 1,Phase 2 10102-43-9 145068
3
Adenosine Approved, Investigational Phase 4 58-61-7 60961
4
Iloprost Approved, Investigational Phase 4,Phase 1,Phase 2 78919-13-8 6443959
5 tannic acid Approved, Nutraceutical Phase 4,Phase 3
6 Pharmaceutical Solutions Phase 4,Phase 3
7 Phosphodiesterase 5 Inhibitors Phase 4,Phase 3,Phase 2,Phase 1
8 Phosphodiesterase Inhibitors Phase 4,Phase 3,Phase 2,Phase 1
9 Sildenafil Citrate Phase 4,Phase 3,Phase 2,Phase 1 171599-83-0
10 Vasodilator Agents Phase 4,Phase 3,Phase 2,Phase 1
11 Anti-Asthmatic Agents Phase 4,Phase 3,Phase 2,Phase 1
12 Respiratory System Agents Phase 4,Phase 3,Phase 2,Phase 1
13 Antioxidants Phase 4,Phase 3,Phase 1,Phase 2
14 Autonomic Agents Phase 4,Phase 3,Phase 1,Phase 2
15 Bronchodilator Agents Phase 4,Phase 3,Phase 1,Phase 2
16 Endothelium-Dependent Relaxing Factors Phase 4,Phase 3,Phase 1,Phase 2
17 Neurotransmitter Agents Phase 4,Phase 3,Phase 1,Phase 2
18 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 1,Phase 2
19 Protective Agents Phase 4,Phase 3,Phase 2,Phase 1
20 Endothelial Growth Factors Phase 4
21 Mitogens Phase 4
22 Platelet Aggregation Inhibitors Phase 4,Phase 2,Phase 1
23 Citrate Nutraceutical Phase 4,Phase 3,Phase 2,Phase 1
24
Citric Acid Nutraceutical, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 77-92-9 311
25
Progesterone Approved, Vet_approved Phase 3 57-83-0 5994
26
Bosentan Approved, Investigational Phase 3 147536-97-8 104865
27 Hormone Antagonists Phase 3,Phase 2
28 Hormones Phase 3,Phase 2
29 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3,Phase 2
30 11-hydroxyprogesterone Phase 3
31 17-alpha-hydroxy-progesterone caproate Phase 3
32 Estrogen Antagonists Phase 3
33 Estrogens Phase 3
34 Progestins Phase 3
35 Antihypertensive Agents Phase 3,Phase 2
36 Endothelin Receptor Antagonists Phase 3
37 Caproate Nutraceutical Phase 3
38
Betamethasone Approved, Vet_approved Phase 2 378-44-9 9782
39
Treprostinil Approved, Investigational Phase 2 81846-19-7 54786 6918140
40
Milrinone Approved Phase 2 78415-72-2 4197
41 Anti-Inflammatory Agents Phase 2
42 Betamethasone benzoate Phase 2
43 Betamethasone sodium phosphate Phase 2
44 Betamethasone Valerate Phase 2 2152-44-5
45 Betamethasone-17,21-dipropionate Phase 2
46 glucocorticoids Phase 2
47 Antidepressive Agents, Tricyclic Phase 2
48 Tezosentan Phase 2
49 Phosphodiesterase 3 Inhibitors Phase 2
50 Antibodies

Interventional clinical trials:

(show all 31)

id Name Status NCT ID Phase Drugs
1 Oral Sildenafil in Persistent Pulmonary Hypertension Secondary to Meconium Aspiration Syndrome in Newborns Completed NCT01757782 Phase 4 Oral Sildenafil;Placebo (distilled water)
2 Inhaled Nitric Oxide by Oxygen Hood in Neonates Completed NCT00732537 Phase 4 inhaled Nitric Oxide;Oxygen (>90% by hood) - standard therapy
3 Early iNO for Oxidative Stress, Vascular Tone and Inflammation in Babies With Hypoxic Respiratory Failure Recruiting NCT01891500 Phase 4 Inhaled nitric oxide;Nitrogen Gas;Crossover iNO
4 Inhaled Iloprost for the Treatment of Persistent Pulmonary Hypertension in the Term and Near Term Infants. Terminated NCT00409526 Phase 4 Inhaled Iloprost
5 Sildenofil in Persistent Pulmonary Hypertension in Newborns Unknown status NCT01558466 Phase 3 Sildenafil;diluent
6 Trial of Progesterone in Twins and Triplets to Prevent Preterm Birth (STTARS) Completed NCT00099164 Phase 3 17 alpha-hydroxyprogesterone caproate (17P)
7 A Study To Evaluate Safety And Efficacy Of IV Sildenafil In The Treatment Of Neonates With Persistent Pulmonary Hypertension Of The Newborn Recruiting NCT01720524 Phase 3 placebo;iv sildenafil
8 Persistent Pulmonary Hypertension of the Newborn Terminated NCT01389856 Phase 3 Bosentan;Matching placebo
9 Inhaled Nitric Oxide Study for Respiratory Failure in Newborns Terminated NCT00005776 Phase 3 Inhaled nitric oxide;Placebo
10 Early Inhaled Nitric Oxide for Respiratory Failure in Newborns Terminated NCT00005773 Phase 3 Inhaled Nitric Oxide;Standard iNO therapy
11 Efficacy of Antenatal Steroids in Reducing Respiratory Morbidities in Late Preterm Infants Unknown status NCT01206946 Phase 2 Betamethasone
12 A Non-Interventional Follow Up Study For Subjects Who Received Sildenafil for Persistent Pulmonary Hypertension of the Newborn (PPHN) Completed NCT01801982 Phase 2
13 Remodulin as Add-on Therapy for the Treatment of Persistent Pulmonary Hypertension of the Newborn Recruiting NCT02261883 Phase 2 IV Remodulin;Placebo
14 Milrinone in Congenital Diaphragmatic Hernia Recruiting NCT02951130 Phase 2 Milrinone;Placebo (5% Dextrose)
15 Study To Investigate Safety And Efficacy Of Sildenafil In The Newborns With Persistent Pulmonary Hypertension (PPHN) Terminated NCT01069861 Phase 2 sildanefil
16 IV Sildenafil Persistent Pulmonary Hypertension Of The Newborn Withdrawn NCT01360671 Phase 2 Sildenafil
17 Inhaled Iloprost as an Adjunct to Inhaled Nitric Oxide in Pediatric Critical Care Patients Withdrawn NCT00981591 Phase 1, Phase 2 Iloprost;Placebo
18 Inhaled PGE1 in Neonatal Hypoxemic Respiratory Failure Withdrawn NCT00598429 Phase 2 Inhaled Prostaglandin E1
19 Pharmacokinetics of Sildenafil in Premature Infants Completed NCT01670136 Phase 1 1 dose of sildenafil
20 Nitro Oxide Inhalation Continued With Sildenafil on Neonatal Persistent Pulmonary Hypertension Unknown status NCT01373749 NO inhalation;NO inhalation continued with sildenafil
21 Circulatory Changes During Venovenous (VV)- and Venoarterial (VA) Extracorporeal Membrane Oxygenation (ECMO) Unknown status NCT00622492
22 Persistent Pulmonary Hypertension of the Newborn (PPHN) Observational Study Completed NCT01203423
23 NO Need to Ventilate: A Trial of Non-invasive Inhaled Nitric Oxide in Persistent Pulmonary Hypertension of the Newborn Completed NCT00139217 iNO
24 Epidemiology of Persistent Pulmonary Hypertension of the Newborn - SCOR in Lung Biology and Diseases in Infants and Children Completed NCT00005323
25 Risk Factors for Pulmonary Hypertension of the Newborn Completed NCT00005497
26 Antibody Secreting Cell and Cyotokine Profiles in Neonates on ECMO Completed NCT00371241
27 PTGS1 Genetic Variation and Increased Risk for Persistent Pulmonary Hypertension of the Newborn Recruiting NCT00710177
28 Markers of Inflammation and Lung Recovery in ECMO Patients for PPHN Recruiting NCT02940327
29 Plethismographic Perfusion Index in Neonates Recruiting NCT02380040
30 Pharmacokinetic Study of Milrinone in Babies With Persistent Pulmonary Hypertension of the Newborn Terminated NCT01088997 Milrinone Lactate
31 N-Terminal Pro-brain Natriuretic Peptide Hormone and Persistent Pulmonary Hypertension Terminated NCT00443859

Search NIH Clinical Center for Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins

Inferred drug relations via UMLS 69 / NDF-RT 48 :


Genetic Tests for Alveolar Capillary Dysplasia with Misalignment of Pulmonary...

Genetic tests related to Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins:

id Genetic test Affiliating Genes
1 Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins 29 24 FOXF1

Anatomical Context for Alveolar Capillary Dysplasia with Misalignment of Pulmonary...

MalaCards organs/tissues related to Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins:

39
Lung, Brain, Pancreas, Heart, Endothelial, Eye

Publications for Alveolar Capillary Dysplasia with Misalignment of Pulmonary...

Articles related to Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins:

(show all 15)
id Title Authors Year
1
A Novel De Novo Pathogenic Variant in FOXF1 in a Newborn with Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins. ( 28332379 )
2017
2
Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins. ( 27071622 )
2016
3
Maternal somatic mosaicism of FOXF1 mutation causes recurrent alveolar capillary dysplasia with misalignment of pulmonary veins in siblings. ( 27109257 )
2016
4
Recurrence of alveolar capillary dysplasia with misalignment of pulmonary veins in two consecutive siblings. ( 26484320 )
2015
5
Intrapulmonary vascular shunt pathways in alveolar capillary dysplasia with misalignment of pulmonary veins. ( 25052575 )
2014
6
Two deletions overlapping a distant FOXF1 enhancer unravel the role of lncRNA LINC01081 in etiology of alveolar capillary dysplasia with misalignment of pulmonary veins. ( 24842713 )
2014
7
Comparative analyses of lung transcriptomes in patients with alveolar capillary dysplasia with misalignment of pulmonary veins and in foxf1 heterozygous knockout mice. ( 24722050 )
2014
8
Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins (ACD/MPV): A Case Series. ( 24829819 )
2013
9
Novel FOXF1 deep intronic deletion causes lethal lung developmental disorder, alveolar capillary dysplasia with misalignment of pulmonary veins. ( 23943206 )
2013
10
A novel mutation in FOXF1 gene associated with alveolar capillary dysplasia with misalignment of pulmonary veins, intestinal malrotation and annular pancreas. ( 23407133 )
2013
11
Alveolar capillary dysplasia with misalignment of pulmonary veins with a wide spectrum of extrapulmonary manifestations. ( 24147432 )
2013
12
A familial case of alveolar capillary dysplasia with misalignment of pulmonary veins supports paternal imprinting of FOXF1 in human. ( 22990143 )
2013
13
Inversion upstream of FOXF1 in a case of lethal alveolar capillary dysplasia with misalignment of pulmonary veins. ( 23444129 )
2013
14
Congenital alveolar capillary dysplasia with misalignment of pulmonary veins associated with hypoplastic left heart syndrome. ( 11178633 )
2001
15
Alveolar capillary dysplasia with misalignment of pulmonary veins and anterior segment dysgenesis of the eye: a report of a new association and review of the literature. ( 11536028 )
2001

Variations for Alveolar Capillary Dysplasia with Misalignment of Pulmonary...

UniProtKB/Swiss-Prot genetic disease variations for Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins:

71 (show all 20)
id Symbol AA change Variation ID SNP ID
1 FOXF1 p.Pro49Gln VAR_071016
2 FOXF1 p.Pro49Ser VAR_071017
3 FOXF1 p.Ser52Phe VAR_071018
4 FOXF1 p.Tyr53Cys VAR_071019
5 FOXF1 p.Ile74Asn VAR_071020
6 FOXF1 p.Phe85Ile VAR_071021
7 FOXF1 p.Phe85Leu VAR_071022
8 FOXF1 p.Phe85Ser VAR_071023
9 FOXF1 p.Arg86Trp VAR_071024
10 FOXF1 p.Gly91Glu VAR_071025
11 FOXF1 p.Gly91Val VAR_071026
12 FOXF1 p.Val96Met VAR_071027
13 FOXF1 p.Arg97His VAR_071028
14 FOXF1 p.His98Gln VAR_071029
15 FOXF1 p.Ser101Leu VAR_071030
16 FOXF1 p.Phe106Leu VAR_071031
17 FOXF1 p.Gly119Asp VAR_071033
18 FOXF1 p.Pro126Leu VAR_071034
19 FOXF1 p.Arg139Leu VAR_071035
20 FOXF1 p.Phe77Leu VAR_076592

ClinVar genetic disease variations for Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 FOXF1 NM_001451.2(FOXF1): c.225C> A (p.Tyr75Ter) single nucleotide variant Pathogenic rs121909336 GRCh37 Chromosome 16, 86544400: 86544400
2 FOXF1 NM_001451.2(FOXF1): c.1138T> C (p.Ter380Arg) single nucleotide variant Pathogenic rs121909337 GRCh37 Chromosome 16, 86546689: 86546689
3 FOXF1 FOXF1, 1-BP DUP, 775T duplication Pathogenic
4 FOXF1 FOXF1, 2-BP DEL, 956TT deletion Pathogenic

Expression for Alveolar Capillary Dysplasia with Misalignment of Pulmonary...

Search GEO for disease gene expression data for Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins.

Pathways for Alveolar Capillary Dysplasia with Misalignment of Pulmonary...

GO Terms for Alveolar Capillary Dysplasia with Misalignment of Pulmonary...

Biological processes related to Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 extracellular matrix organization GO:0030198 9.16 COL18A1 FOXF1
2 positive regulation of cell migration GO:0030335 8.96 COL18A1 FOXF1
3 animal organ morphogenesis GO:0009887 8.62 COL18A1 FOXF1

Sources for Alveolar Capillary Dysplasia with Misalignment of Pulmonary...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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