MCID: TRC097
MIFTS: 52

Tracheomalacia

Categories: Bone diseases, Fetal diseases, Rare diseases, Respiratory diseases
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Aliases & Classifications for Tracheomalacia

MalaCards integrated aliases for Tracheomalacia:

Name: Tracheomalacia 11 5 14 71 75
Congenital Tracheomalacia 11 19 58 43 31 33
Congenital Major Airway Collapse 19 58
Tracheomalacia, Congenital 19
Type 1 Tracheomalacia 19

Characteristics:


Age Of Onset:

Congenital Tracheomalacia: Infancy 58

Classifications:

Orphanet: 58  
Rare otorhinolaryngological diseases
Rare respiratory diseases
Developmental anomalies during embryogenesis


Summaries for Tracheomalacia

GARD: 19 Congenital tracheomalacia is when an infant is born with weak cartilage around the windpipe (trachea) that makes it difficult to keep the airway open. The trachea can collapse when breathing out. Symptoms vary from mild to severe and may include noisy breathing (stridor), shortness of breath, difficulty breathing, and bluish skin (cyanotic spells). Tracheomalacia can occur on its own or along with other airway problems. It can also occur with congenital abnormalities that affect other parts of the body. Tracheomalacia often resolves on its own by the second year of life.

MalaCards based summary: Tracheomalacia, also known as congenital tracheomalacia, is related to laryngomalacia and mediastinitis. An important gene associated with Tracheomalacia is ANO1 (Anoctamin 1), and among its related pathways/superpathways are Neural Stem Cells and Lineage-specific Markers and Mesenchymal Stem Cells and Lineage-specific Markers. Affiliated tissues include trachea, skin and heart, and related phenotypes are anomalous tracheal cartilage and recurrent upper respiratory tract infections

Orphanet: 58 Congenital tracheomalacia is a rare condition where the trachea is soft and flexible causing the tracheal wall to collapse when exhaling, coughing or crying, that usually presents in infancy, and that is characterized by stridor and noisy breathing or upper respiratory infections. Tracheomalacia improves by the age of 18-24 months.

Disease Ontology: 11 A tracheal disease characterized by flaccidity of the tracheal support cartilage.

Wikipedia: 75 Tracheomalacia is a condition or incident where the cartilage that keeps the airway (trachea) open is... more...

Related Diseases for Tracheomalacia

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

(show top 50) (show all 267)
# Related Disease Score Top Affiliating Genes
1 laryngomalacia 30.8 COL2A1 ATP4A ATP12A
2 mediastinitis 30.3 ATP4A ATP12A
3 megaesophagus 30.2 ATP4A ATP12A
4 acquired laryngomalacia 30.2 ATP4A ATP12A
5 tracheal stenosis 30.1 TBX5 TBX4 SOX9 NKX2-1 GALNS FOXF1
6 aspiration pneumonitis 30.0 TBX4 ATP4A ATP12A
7 esophageal atresia 29.8 TBX4 SHH NKX2-1 ITSN1 FOXF1 FGF10
8 pancreas, annular 29.6 SHH FOXF1
9 ventricular septal defect 29.5 TBX5 HIRA FOXF1
10 tetralogy of fallot 29.3 TBX5 SOX9 SHH HIRA FOXF1 FGF10
11 cleft palate, isolated 28.4 WLS TBX5 SPECC1L SOX9 SHH FGF18
12 tracheal disease 28.2 WLS TBX4 SOX9 SHH NKX2-1 GALNS
13 chromosome 2q37 deletion syndrome 11.0
14 williams-campbell syndrome 10.5
15 tracheobronchomalacia 10.5
16 pulmonary hypoplasia, familial primary 10.4 TBX4 FGF10
17 pulmonary hypoplasia, primary 10.4 TBX4 FGF10
18 goiter 10.4
19 gastroesophageal reflux 10.4
20 pancreatic vasoactive intestinal peptide producing tumor 10.3 ATP4A ATP12A
21 scalp dermatosis 10.3 ATP4A ATP12A
22 acquired gastric outlet stenosis 10.3 ATP4A ATP12A
23 lingual goiter 10.3 ATP4A ATP12A
24 esophageal diverticulosis 10.3 ATP4A ATP12A
25 displacement of cardia through esophageal hiatus 10.3 ATP4A ATP12A
26 benign shuddering attacks 10.3 ATP4A ATP12A
27 persistent moderate asthma 10.3 ATP4A ATP12A
28 viral esophagitis 10.3 ATP4A ATP12A
29 cervix erosion 10.3 ATP4A ATP12A
30 bacterial esophagitis 10.3 ATP4A ATP12A
31 chronic duodenal ileus 10.3 ATP4A ATP12A
32 angiodysplasia of intestine 10.3 ATP4A ATP12A
33 benzylpenicillin allergy 10.3 ATP4A ATP12A
34 granulomatous gastritis 10.3 ATP4A ATP12A
35 fungal gastritis 10.3 ATP4A ATP12A
36 fungal esophagitis 10.3 ATP4A ATP12A
37 esophagus melanoma 10.3 ATP4A ATP12A
38 emphysematous cholecystitis 10.3 ATP4A ATP12A
39 afferent loop syndrome 10.3 ATP4A ATP12A
40 laryngeal tuberculosis 10.3 ATP4A ATP12A
41 gastrojejunal ulcer 10.3 ATP4A ATP12A
42 cefuroxime allergy 10.3 ATP4A ATP12A
43 median arcuate ligament syndrome 10.3 ATP4A ATP12A
44 bacterial gastritis 10.3 ATP4A ATP12A
45 pneumatosis cystoides intestinalis 10.3 ATP4A ATP12A
46 dieulafoy lesion 10.3 ATP4A ATP12A
47 hypopigmentation of eyelid 10.3 ATP4A ATP12A
48 respiratory failure 10.3
49 gastric gastrinoma 10.3 ATP4A ATP12A
50 lymphocytic gastritis 10.3 ATP4A ATP12A

Graphical network of the top 20 diseases related to Tracheomalacia:



Diseases related to Tracheomalacia

Symptoms & Phenotypes for Tracheomalacia

Human phenotypes related to Tracheomalacia:

58 30 (show all 45)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 anomalous tracheal cartilage 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0004468
2 recurrent upper respiratory tract infections 58 30 Frequent (33%) Frequent (79-30%)
HP:0002788
3 laryngomalacia 58 30 Frequent (33%) Frequent (79-30%)
HP:0001601
4 stridor 58 30 Frequent (33%) Frequent (79-30%)
HP:0010307
5 wheezing 58 30 Frequent (33%) Frequent (79-30%)
HP:0030828
6 decreased peak expiratory flow 58 30 Frequent (33%) Frequent (79-30%)
HP:0032355
7 failure to thrive 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001508
8 gastroesophageal reflux 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002020
9 neurodevelopmental delay 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0012758
10 pneumothorax 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002107
11 neonatal respiratory distress 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002643
12 tracheoesophageal fistula 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002575
13 hoarse voice 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001609
14 premature birth 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001622
15 esophageal atresia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002032
16 feeding difficulties 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0011968
17 pneumonia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002090
18 cyanosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000961
19 cutis laxa 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000973
20 abnormal pulmonary artery morphology 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0030966
21 intercostal retractions 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0030864
22 productive cough 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0031245
23 loss of voice 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001686
24 parenchymal consolidation 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0032177
25 cardiomegaly 58 30 Very rare (1%) Very rare (<4-1%)
HP:0001640
26 atrial septal defect 58 30 Very rare (1%) Very rare (<4-1%)
HP:0001631
27 bronchiectasis 58 30 Very rare (1%) Very rare (<4-1%)
HP:0002110
28 emphysema 58 30 Very rare (1%) Very rare (<4-1%)
HP:0002097
29 tetralogy of fallot 58 30 Very rare (1%) Very rare (<4-1%)
HP:0001636
30 patent ductus arteriosus 58 30 Very rare (1%) Very rare (<4-1%)
HP:0001643
31 apnea 58 30 Very rare (1%) Very rare (<4-1%)
HP:0002104
32 ventricular septal defect 58 30 Very rare (1%) Very rare (<4-1%)
HP:0001629
33 pulmonary arterial hypertension 58 30 Very rare (1%) Very rare (<4-1%)
HP:0002092
34 pulmonary hypoplasia 58 30 Very rare (1%) Very rare (<4-1%)
HP:0002089
35 tracheobronchomalacia 58 30 Very rare (1%) Very rare (<4-1%)
HP:0002786
36 right aortic arch 58 30 Very rare (1%) Very rare (<4-1%)
HP:0012020
37 partial anomalous pulmonary venous return 58 30 Very rare (1%) Very rare (<4-1%)
HP:0010773
38 single ventricle 58 30 Very rare (1%) Very rare (<4-1%)
HP:0001750
39 double aortic arch 58 30 Very rare (1%) Very rare (<4-1%)
HP:0011590
40 respiratory insufficiency 58 Frequent (79-30%)
41 dyspnea 58 Occasional (29-5%)
42 cough 58 Frequent (79-30%)
43 tracheomalacia 58 Very frequent (99-80%)
44 abnormal heart morphology 58 Occasional (29-5%)
45 bronchomalacia 58 Very rare (<4-1%)

MGI Mouse Phenotypes related to Tracheomalacia:

45 (show all 14)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.43 ANO1 ATP12A ATP4A COL2A1 FGF10 FGF18
2 homeostasis/metabolism MP:0005376 10.4 ANO1 ATP12A ATP4A COL2A1 FGF10 FGF18
3 nervous system MP:0003631 10.28 ANO1 COL2A1 FGF10 HIRA ITSN1 NKX2-1
4 digestive/alimentary MP:0005381 10.28 ANO1 ATP12A ATP4A COL2A1 FGF10 FGF18
5 cellular MP:0005384 10.21 COL2A1 FGF10 FGF18 FOXF1 GALNS HIRA
6 embryo MP:0005380 10.2 COL2A1 FGF10 FOXF1 HIRA KCNJ13 SHH
7 muscle MP:0005369 10.18 ANO1 FGF10 FOXF1 HIRA LTBP4 SHH
8 cardiovascular system MP:0005385 10.13 ANO1 COL2A1 FGF10 FGF18 FOXF1 HIRA
9 limbs/digits/tail MP:0005371 10.11 COL2A1 FGF10 FGF18 SHH SOX9 TBX4
10 craniofacial MP:0005382 10.06 COL2A1 FGF10 FGF18 HIRA KCNJ13 SHH
11 behavior/neurological MP:0005386 10.03 ANO1 ATP12A COL2A1 FGF10 ITSN1 KCNJ13
12 respiratory system MP:0005388 9.9 ANO1 COL2A1 FGF10 FGF18 FOXF1 KCNJ13
13 skeleton MP:0005390 9.77 ANO1 COL2A1 FGF10 FGF18 GALNS HIRA
14 mortality/aging MP:0010768 9.55 ANO1 ATP4A COL2A1 FGF10 FGF18 FOXF1

Drugs & Therapeutics for Tracheomalacia

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Phase I Open-label Study to Assess the Safety, Tolerability and Potential Efficacy of a Novel Tracheal Replacement Consisting of a Tissue-engineered Decellularised Tracheal Scaffold With Seeded Autologous Mesenchymal Cells in Subjects With Severe Tracheal Stenosis or Malacia Suspended NCT02949414 Phase 1
2 Tracheal Mechanics During Bronchoscopy Completed NCT00536315
3 Tracheobronchomalacia: Treatment Outcomes Completed NCT00550602
4 In Infants With Symptoms of Tracheomalacia or Laryngomalacia, Does Acid-Blocking Medication Improve Respiratory Symptoms? A Randomized, Controlled Trial Withdrawn NCT02700087 ranitidine or famotidine;Placebo

Search NIH Clinical Center for Tracheomalacia

Cochrane evidence based reviews: congenital tracheomalacia

Genetic Tests for Tracheomalacia

Anatomical Context for Tracheomalacia

Organs/tissues related to Tracheomalacia:

MalaCards : Trachea, Skin, Heart, Thyroid, Lung, Smooth Muscle, Thymus

Publications for Tracheomalacia

Articles related to Tracheomalacia:

(show top 50) (show all 1190)
# Title Authors PMID Year
1
The 'knee' pattern in spirometry flow-volume curves in children: Does it relate to tracheomalacia? 62
36335911 2022
2
A New Removable Helical Metallic Stent for the Treatment of Tracheomalacia in Children: Study in Pathological Animal Model. 62
36431234 2022
3
Anatomy and embryology of tracheo-esophageal fistula. 62
36459913 2022
4
Predicting tracheal work of breathing in neonates based on radiological and pulmonary measurements. 62
36049059 2022
5
Management of bronchomalacia in infants post-cardiac surgery using synchronized nasal DuoPAP: A novel technology. 62
36254924 2022
6
Pulmonary function of children with tracheomalacia and associated clinical factors. 62
35785487 2022
7
Unsuspected severe tracheal stenosis and tracheomalacia after correction surgery for congenital scoliosis: A case report. 62
36217730 2022
8
Successful management of a tracheomalacia patient with active endotracheal bleeding due to intraoperative innominate artery injury: A case report. 62
36181007 2022
9
An Ex Vivo Model of Posterior Tracheomalacia With Evaluation of Potential Treatment Modalities. 62
36073673 2022
10
Posterior tracheopexy for preterm infants with severe bronchopulmonary dysplasia and severe tracheobronchomalacia: A case series. 62
35666077 2022
11
Outcome of long gap esophageal atresia at 6 years: A prospective case control cohort study. 62
35970676 2022
12
Difficult airway management and emergency tracheostomy in a patient with giant goiter presenting with respiratory arrest: A case report. 62
35837072 2022
13
Surgical Management of 48 Patients with Retrosternal Goiter and Tracheal Stenosis: A Retrospective Clinical Study from a Single Surgical Center. 62
35949114 2022
14
Videofluoroscopic Swallow Studies and Diagnostic Outcomes in Otherwise Healthy Infants With Dysphagia. 62
34553623 2022
15
Tracheobronchomalacia and Excessive Dynamic Airway Collapse: Current Concepts and Future Directions. 62
35522576 2022
16
Poor correlation between airway fluoroscopy and rigid bronchoscopic evaluation in paediatric tracheomalacia. 62
35504226 2022
17
A new missense variant in RAB3GAP2 in a family with muscular dystrophy-short stature and defective autophagy: An expansion of the micro/Martsolf spectrum or a new phenotype? 62
35274444 2022
18
Thoracoscopic posterior tracheopexy during primary esophageal atresia repair ameliorate tracheomalacia in neonates: a single-center retrospective comparative cohort study. 62
35879691 2022
19
Intraoperative methods for wrapping anastomoses after airway reconstruction: a case series. 62
35832451 2022
20
Association of childhood tracheomalacia with bronchiectasis: a case-control study. 62
34649867 2022
21
Surgical outcomes of pulmonary artery sling and congenital tracheal stenosis with right lung anomaly. 62
35134910 2022
22
An Analysis of Tracheostomy Complications in Pediatric Patients With Scoliosis. 62
34313335 2022
23
The Importance of Flexible Bronchoscopy in Difficult-to-treat Asthma from a Pediatric Pulmonology Perspective. 62
35781234 2022
24
Factors of family impact in a Swedish-German cohort of children born with esophageal atresia. 62
35597964 2022
25
ERS International Congress 2021: highlights from the Paediatric Assembly. 62
35615416 2022
26
Tracheostomy prediction model in neonatal bronchopulmonary dysplasia via lung and airway MRI. 62
35029053 2022
27
Tracheal stenosis as a complication of prolonged intubation in coronavirus disease 2019 (COVID-19) patients: a Peruvian cohort. 62
35572866 2022
28
Dynamic Volumetric Computed Tomography Angiography is an Effective Method to Evaluate Tracheomalacia in Children. 62
35411953 2022
29
Myocardial strain in newborn infants with tracheomalacia due to vascular rings, a pilot study. 62
32093534 2022
30
Long-term outcomes in children undergoing vascular ring division: a multi-institution experience. 62
34632492 2022
31
Childhood Respiratory Conditions: Nonasthma Chronic Lung Disease. 62
35143153 2022
32
Circumflex aorta: An uncharted territory. 62
33957784 2022
33
Spectrum of upper airway pathology in children with Down syndrome in a single tertiary centre. 62
35107400 2022
34
Synchronous airway lesions in children with severe, progressive and atypical laryngomalacia - Experience of a UK tertiary referral centre. 62
34838327 2022
35
The clinical application of flexible bronchoscopy in a neonatal intensive care unit. 62
36299699 2022
36
Expanding the Clinical Phenotype of 19q Interstitial Deletions: A New Case with 19q13.32-q13.33 Deletion and Short Review of the Literature. 62
35205257 2022
37
Mandibular Distraction Osteogenesis for Tongue-Based Airway Obstruction Without Micrognathia. 62
34176894 2022
38
Flexible Endoscopy With Non-invasive Ventilation Enables Clinicians to Assess and Manage Infants With Severe Bronchopulmonary Dysplasia. 62
35515350 2022
39
Clinicopathologic Characteristics and Outcomes of Massive Multinodular Goiter: A Retrospective Cohort Study. 62
35685217 2022
40
Retinal folds and tracheomalacia in a boy with otopalatodigital syndrome type 2. 62
35396784 2022
41
Treatment of post-resuscitation cicatricial tracheal stenosis after suffering severe COVID-19 associated pneumonia: A report of 11 cases. 62
36312301 2022
42
Fetoscopic Balloon Dilation and Stent Placement of Congenital High Airway Obstruction Syndrome Leading to Successful Cesarean Delivery. 62
34999582 2022
43
[Treatment of post-intensive care tracheal stenosis after previous covid-19 pneumonia]. 62
35477194 2022
44
Unusual Cause of Respiratory Distress in a Term Neonate. 62
35756586 2022
45
Personalized 3D-Printed Bioresorbable Airway External Splint for Tracheomalacia Combined With Congenital Heart Disease. 62
35620475 2022
46
Co-dominant double aortic arch: a rare cause of vascular ring causing tracheomalacia in a child. 62
32930048 2021
47
An imaging study on tracheomalacia in infants with esophageal atresia: the degree of tracheal compression by the brachiocephalic artery is a good indicator for therapeutic intervention. 62
34453588 2021
48
Acquired tracheomalacia due to aortic aneurysm managed with venopulmonary extracorporeal membrane oxygenation for perioperative support. 62
34754999 2021
49
Tracheostomy in Mechanically Ventilated Patients With SARS-CoV-2-ARDS: Focus on Tracheomalacia. 62
34548406 2021
50
Neonates With Tracheomalacia Generate Auto-Positive End-Expiratory Pressure via Glottis Closure. 62
34157310 2021

Variations for Tracheomalacia

Expression for Tracheomalacia

Search GEO for disease gene expression data for Tracheomalacia.

Pathways for Tracheomalacia

GO Terms for Tracheomalacia

Biological processes related to Tracheomalacia according to GeneCards Suite gene sharing:

(show all 39)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of DNA-templated transcription GO:0045893 10.45 FGF10 FOXF1 NKX2-1 SHH SOX9 TBX4
2 animal organ morphogenesis GO:0009887 10.2 FGF10 FGF18 FOXF1 NKX2-1
3 ERK1 and ERK2 cascade GO:0070371 10.15 SOX9 FGF18 FGF10
4 stem cell proliferation GO:0072089 10.14 SOX9 SHH FGF10
5 potassium ion import across plasma membrane GO:1990573 10.08 KCNJ13 ATP4A ATP12A
6 chondrocyte differentiation GO:0002062 10.07 SOX9 FGF18 COL2A1
7 pattern specification process GO:0007389 10.03 TBX5 SHH NKX2-1
8 oligodendrocyte differentiation GO:0048709 10.02 SOX9 SHH NKX2-1
9 embryonic limb morphogenesis GO:0030326 10 TBX5 TBX4 SHH
10 thyroid gland development GO:0030878 9.99 FGF10 NKX2-1 SHH
11 embryonic foregut morphogenesis GO:0048617 9.98 SHH FOXF1
12 epithelial cell proliferation GO:0050673 9.98 SOX9 SHH FGF10
13 lung epithelium development GO:0060428 9.97 SHH FGF10
14 pancreas development GO:0031016 9.97 FGF10 FOXF1 SHH
15 lung lobe morphogenesis GO:0060463 9.96 SHH FOXF1
16 positive regulation of Wnt signaling pathway GO:0030177 9.96 WLS SHH FGF10
17 lung saccule development GO:0060430 9.95 NKX2-1 FGF10
18 lacrimal gland development GO:0032808 9.95 SOX9 FGF10
19 morphogenesis of an epithelium GO:0002009 9.95 TBX5 TBX4 SOX9
20 otic vesicle formation GO:0030916 9.94 SOX9 FGF10
21 type II pneumocyte differentiation GO:0060510 9.92 FGF10 NKX2-1
22 negative regulation of mesenchymal cell apoptotic process GO:2001054 9.91 SHH SOX9
23 epithelial cell proliferation involved in salivary gland morphogenesis GO:0060664 9.88 FGF10 SHH
24 anterior head development GO:0097065 9.87 COL2A1 SOX9
25 cell fate specification GO:0001708 9.86 TBX5 TBX4 SOX9 SHH
26 positive regulation of mesenchymal cell proliferation GO:0002053 9.85 SOX9 SHH FOXF1
27 Harderian gland development GO:0070384 9.84 SOX9 FGF10
28 ureter development GO:0072189 9.81 SOX9 FOXF1
29 embryonic digestive tract morphogenesis GO:0048557 9.8 SHH FOXF1 FGF10
30 otic vesicle development GO:0071599 9.79 COL2A1 SOX9
31 animal organ formation GO:0048645 9.77 SHH FGF10
32 respiratory tube development GO:0030323 9.76 SHH FOXF1
33 limb bud formation GO:0060174 9.76 COL2A1 FGF10 SHH SOX9
34 bud outgrowth involved in lung branching GO:0060447 9.73 SHH FGF10
35 limb morphogenesis GO:0035108 9.71 COL2A1 FGF10 TBX4
36 trachea development GO:0060438 9.7 SHH FOXF1
37 epithelial tube branching involved in lung morphogenesis GO:0060441 9.56 SOX9 SHH NKX2-1 FOXF1 FGF10
38 lung morphogenesis GO:0060425 9.54 SHH FOXF1 FGF10
39 lung development GO:0030324 9.44 TBX5 TBX4 SHH NKX2-1 FOXF1 FGF18

Molecular functions related to Tracheomalacia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 P-type sodium:potassium-exchanging transporter activity GO:0005391 9.56 ATP4A ATP12A
2 type 2 fibroblast growth factor receptor binding GO:0005111 9.46 FGF18 FGF10
3 P-type potassium transmembrane transporter activity GO:0008556 8.96 ATP4A ATP12A
4 P-type potassium:proton transporter activity GO:0008900 8.92 ATP4A ATP12A

Sources for Tracheomalacia

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
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