Rare diseases that primarily involve the pulmonary & respiratory system. Each links to its full hub — overview, specialists, clinical trials, medications and community.
How this grouping is built. These conditions are grouped by a clinical keyword match on the disease name — the same conservative classifier Tomeko uses to pick each hub’s system motif. It is a Tomeko working grouping, not an official Orphanet organ classification, and some conditions affect more than one system. Every condition is itself catalogued from NIH GARD (Genetic and Rare Diseases Information Center) and Orphanet (orpha.net), and each hub cites its own sources. Sorted A→Z by name · 264 conditions · last built 2026-08-30.
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A16
- Abnormal Origin Of The Pulmonary Artery
- Abnormality Of The Pulmonary Veins
- Absent Pulmonary Artery
- Adult Acute Respiratory Distress Syndrome
- Adult Pulmonary Langerhans Cell Histiocytosis
- Allergic Bronchopulmonary Aspergillosis
- Alveolar Capillary Dysplasia With Pulmonary Venous Misalignment
- Alveolar Capillary Dysplasia Without Misalignment Of Pulmonary Veins
- Alveolar Echinococcosis
- Alveolar Rhabdomyosarcoma
- Alveolar Soft Part Sarcoma
- Anomalous Origin Of Left Coronary Artery From The Pulmonary Artery
- Aortopulmonary Coronary Arterial Course
- Autoimmune Interstitial Lung Disease-Arthritis Syndrome
- Autoimmune Pulmonary Alveolar Proteinosis
- Autosomal Recessive Cutis Laxa Type 1
B10
- Bilateral Basilar Pulmonary Fibrosis
- Braddock Syndrome
- Bronchial Endocrine Tumor
- Bronchiectasis With Or Without Elevated Sweat Chloride 1
- Bronchiectasis With Or Without Elevated Sweat Chloride 2
- Bronchiectasis With Or Without Elevated Sweat Chloride 3
- Bronchiolitis Obliterans Organizing Pneumonia
- Bronchiolitis Obliterans With Obstructive Pulmonary Disease
- Bronchiolocentric Pattern Of Interstitial Pneumonia
- Bronchopulmonary Dysplasia Of Newborn
C51
- Café-Au-Lait Macules With Pulmonary Stenosis
- Central Hypoventilation Syndrome, Congenital, 1, With Or Without Hirschsprung Disease
- Cervical Alveolar Soft Part Sarcoma
- CFAP46-Related Primary Ciliary Dyskinesia
- Chronic Respiratory Distress With Surfactant Metabolism Deficiency
- Chronic Thromboembolic Pulmonary Hypertension
- Ciliary Dyskinesia With Transposition Of Ciliary Microtubules
- Ciliary Dyskinesia, Primary, 36, X-Linked
- Ciliary Dyskinesia, Primary, 37
- Ciliary Dyskinesia, Primary, 38
- Ciliary Dyskinesia, Primary, 39
- Ciliary Dyskinesia, Primary, 40
- Ciliary Dyskinesia, Primary, 41
- Ciliary Dyskinesia, Primary, 42
- Ciliary Dyskinesia, Primary, 43
- Ciliary Dyskinesia, Primary, 44
- Ciliary Dyskinesia, Primary, 45
- Ciliary Dyskinesia, Primary, 46
- Ciliary Dyskinesia, Primary, 47, And Lissencephaly
- Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
- Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
- Ciliary Dyskinesia, Primary, 50
- Ciliary Dyskinesia, Primary, 51
- Ciliary Dyskinesia, Primary, 52
- Ciliary Dyskinesia, Primary, 53
- Ciliary Dyskinesia, Primary, 54
- Classic Pulmonary Blastoma
- Cleft Lip/palate
- Cognitive Impairment - Coarse Facies - Heart Defects - Obesity - Pulmonary Involvement - Short Stature - Skeletal Dysplasia Syndrome
- Combined Pulmonary Fibrosis-Emphysema Syndrome
- Communicating Congenital Bronchopulmonary-Foregut Malformation
- Congenital Alveolar Dysplasia
- Congenital Alveolar Dysplasia Due To FGF10
- Congenital Alveolar Dysplasia Due To TBX4
- Congenital Aortopulmonary Window
- Congenital Pulmonary Airway Malformation
- Congenital Pulmonary Airway Malformation Type 0
- Congenital Pulmonary Airway Malformation Type 1
- Congenital Pulmonary Airway Malformation Type 2
- Congenital Pulmonary Airway Malformation Type 3
- Congenital Pulmonary Airway Malformation Type 4
- Congenital Pulmonary Lymphangiectasia
- Congenital Pulmonary Sequestration
- Congenital Pulmonary Vein Atresia
- Congenital Pulmonary Veins Atresia Or Stenosis
- Congenital Pulmonary Venous Return Anomaly
- Congenital Stenosis Of Pulmonary Valve
- Congenital Total Pulmonary Venous Return Anomaly
- Cutis Laxa With Severe Pulmonary, Gastrointestinal And Urinary Anomalies
- Cystic Fibrosis
- Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome
D7
E5
F3
H12
- Haddad Syndrome
- Hantavirus Pulmonary Syndrome
- Heiner Syndrome
- Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
- Hereditary Pulmonary Alveolar Proteinosis
- Hereditary Sclerosing Poikiloderma With Tendon And Pulmonary Involvement
- Heritable Pulmonary Arterial Hypertension
- Hermansky-Pudlak Syndrome With Pulmonary Fibrosis
- Hermansky-Pudlak Syndrome Without Pulmonary Fibrosis
- High Altitude Pulmonary Edema
- Hyperuricemia, Pulmonary Hypertension, Renal Failure, Alkalosis Syndrome
- Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
I17
- Idiopathic Bronchiectasis
- Idiopathic Pleuroparenchymal Fibroelastosis
- Idiopathic Pulmonary Arterial Hypertension
- Idiopathic Pulmonary Artery Dilatation
- Idiopathic Pulmonary Fibrosis
- Idiopathic Pulmonary Hemosiderosis
- Infantile-Onset Pulmonary Alveolar Proteinosis-Hypogammaglobulinemia
- Inflammatory Bowel Disease-Recurrent Sinopulmonary Infections Syndrome
- Inhalational Anthrax
- Inherited Interstitial Lung Disease
- Interstitial Lung Disease 1
- Interstitial Lung Disease 2
- Interstitial Lung Disease Due To ABCA3 Deficiency
- Intralobar Congenital Pulmonary Sequestration
- Isolated Left Bronchial Isomerism
- Isolated Pulmonary Artery Sling
- Isolated Pulmonary Capillaritis
K1
L1
M9
- Middle East Respiratory Syndrome
- Mitochondrial Complex I Deficiency
- Mitochondrial Complex II Deficiency, Nuclear Type 1
- Mitochondrial Complex III Deficiency
- Mitochondrial Complex IV Deficiency, Nuclear-Type
- Mitochondrial Proton-Transporting ATP Synthase Complex Deficiency
- Mitochondrial Respiratory Chain Complex Deficiency
- Mixed Mucinous And Nonmucinous Bronchioloalveolar Adenocarcinoma
- Mucinous Bronchioloalveolar Adenocarcinoma
N6
- NEK9-Related Lethal Skeletal Dysplasia
- Newborn Respiratory Distress Syndrome
- NKX2-1 Related Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
- Non-Syndromic Congenital Bronchial Atresia
- Non-Transplant-Related Bronchiolitis Obliterans
- Nonmucinous Bronchioloalveolar Adenocarcinoma
O1
P101
- PAGOD Syndrome
- Partial Anomalous Pulmonary Venous Return
- Pediatric Acute Respiratory Distress Syndrome
- Plastic Bronchitis
- Pleuropulmonary Blastoma
- Pleuropulmonary Blastoma Type 1
- Pleuropulmonary Blastoma Type 2
- Pleuropulmonary Blastoma Type 3
- Postinflammatory Pulmonary Fibrosis
- Primary Ciliary Dyskinesia
- Primary Ciliary Dyskinesia 10
- Primary Ciliary Dyskinesia 11
- Primary Ciliary Dyskinesia 12
- Primary Ciliary Dyskinesia 13
- Primary Ciliary Dyskinesia 14
- Primary Ciliary Dyskinesia 15
- Primary Ciliary Dyskinesia 16
- Primary Ciliary Dyskinesia 17
- Primary Ciliary Dyskinesia 18
- Primary Ciliary Dyskinesia 19
- Primary Ciliary Dyskinesia 2
- Primary Ciliary Dyskinesia 20
- Primary Ciliary Dyskinesia 21
- Primary Ciliary Dyskinesia 22
- Primary Ciliary Dyskinesia 23
- Primary Ciliary Dyskinesia 24
- Primary Ciliary Dyskinesia 25
- Primary Ciliary Dyskinesia 26
- Primary Ciliary Dyskinesia 27
- Primary Ciliary Dyskinesia 28
- Primary Ciliary Dyskinesia 29
- Primary Ciliary Dyskinesia 3
- Primary Ciliary Dyskinesia 30
- Primary Ciliary Dyskinesia 32
- Primary Ciliary Dyskinesia 33
- Primary Ciliary Dyskinesia 34
- Primary Ciliary Dyskinesia 35
- Primary Ciliary Dyskinesia 4
- Primary Ciliary Dyskinesia 5
- Primary Ciliary Dyskinesia 6
- Primary Ciliary Dyskinesia 7
- Primary Ciliary Dyskinesia 8
- Primary Ciliary Dyskinesia 9
- Primary Interstitial Lung Disease Specific To Childhood
- Primary Pulmonary Diffuse Large B-Cell Lymphoma
- Primary Pulmonary Hypoplasia
- Primary Pulmonary Lymphoma
- Primary Pulmonary Tuberculosis
- Primary Pulmonary Vein Stenosis
- Pulmonary Agenesis
- PULMONARY ALVEOLAR MICROLITHIASIS
- Pulmonary Alveolar Proteinosis
- Pulmonary Amyloidosis
- Pulmonary Arterial Hypertension
- Pulmonary Artery Choriocarcinoma
- Pulmonary Artery Coming From Patent Ductus Arteriosus
- Pulmonary Artery Coming From The Aorta
- Pulmonary Artery Hypoplasia
- Pulmonary Artery Leiomyosarcoma
- Pulmonary Aspergilloma
- Pulmonary Blastoma
- Pulmonary Branch Stenosis
- Pulmonary Eosinophilia
- Pulmonary Fibrosis
- Pulmonary Fibrosis And/or Bone Marrow Failure Syndrome, Telomere-Related, 7
- Pulmonary Fibrosis And/or Bone Marrow Failure Syndrome, Telomere-Related, 8
- Pulmonary Fibrosis And/or Bone Marrow Failure Syndrome, Telomere-Related, 9
- Pulmonary Fibrosis And/or Bone Marrow Failure, Telomere-Related
- Pulmonary Fibrosis And/or Bone Marrow Failure, Telomere-Related, 1
- Pulmonary Fibrosis And/or Bone Marrow Failure, Telomere-Related, 2
- Pulmonary Fibrosis And/or Bone Marrow Failure, Telomere-Related, 3
- Pulmonary Fibrosis And/or Bone Marrow Failure, Telomere-Related, 4
- Pulmonary Fibrosis And/or Bone Marrow Failure, Telomere-Related, 5
- Pulmonary Fibrosis And/or Bone Marrow Failure, Telomere-Related, 6
- Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
- Pulmonary Hypertension
- Pulmonary Hypertension Owing To Lung Disease And/or Hypoxia
- Pulmonary Hypertension, Neonatal
- Pulmonary Hypertension, Primary, 1
- Pulmonary Hypertension, Primary, 2
- Pulmonary Hypertension, Primary, 3
- Pulmonary Hypertension, Primary, 4
- Pulmonary Hypertension, Primary, 5
- Pulmonary Hypertension, Primary, 6
- Pulmonary Hypertension, Primary, 7
- Pulmonary Hypoplasia
- Pulmonary Interstitial Glycogenosis
- Pulmonary Langerhans Cell Histiocytosis
- Pulmonary Large Cell Neuroendocrine Carcinoma
- Pulmonary Mucoepidermoid Carcinoma
- Pulmonary Nodular Lymphoid Hyperplasia
- Pulmonary Non-Tuberculous Mycobacterial Infection
- Pulmonary Sarcoidosis
- Pulmonary Tuberculosis
- Pulmonary Type Ovarian Small Cell Carcinoma
- Pulmonary Valve Agenesis
- Pulmonary Valve Agenesis-Tetralogy Of Fallot-Absence Of Ductus Arteriosus Syndrome
- Pulmonary Vein Leiomyosarcoma
- Pulmonary Veno-Occlusive Disease And/or Pulmonary Capillary Haemangiomatosis
- Pulmonary Venoocclusive Disease
- Pulmonary Venoocclusive Disease 1
R5
S13
- Scimitar Syndrome
- Secondary Pulmonary Alveolar Proteinosis
- Secondary Pulmonary Hemosiderosis
- Severe Acute Respiratory Syndrome
- Severe Early-Onset Pulmonary Alveolar Proteinosis Due To MARS Deficiency
- SFTPC-Related Interstitial Lung Disease
- Subpulmonary Stenosis
- Supravalvular Pulmonary Stenosis
- Surfactant Metabolism Dysfunction, Pulmonary, 1
- Surfactant Metabolism Dysfunction, Pulmonary, 2
- Surfactant Metabolism Dysfunction, Pulmonary, 4
- Surfactant Metabolism Dysfunction, Pulmonary, 5
- Susceptibility To Respiratory Infections Associated With CD8alpha Chain Mutation