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CC-BY-4.0
https://creativecommons.org/licenses/by/4.0/legalcode
162655
Orphanet classification of rare respiratory diseases
97955
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97955
Rare respiratory disease
Category
3347
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3347
Mounier-Kühn syndrome
Clinical syndrome
60025
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=60025
Pulmonary alveolar microlithiasis
Disease
63999
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63999
IgG4-related mediastinitis
Clinical subtype
71198
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71198
Rare pulmonary hypertension
Category
70591
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70591
Chronic thromboembolic pulmonary hypertension
Disease
182090
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182090
Pulmonary arterial hypertension
Category
422
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=422
Idiopathic/heritable pulmonary arterial hypertension
Disease
275766
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275766
Idiopathic pulmonary arterial hypertension
Etiological subtype
275777
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275777
Heritable pulmonary arterial hypertension
Etiological subtype
275786
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275786
Drug- or toxin-induced pulmonary arterial hypertension
Clinical group
275791
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275791
Pulmonary arterial hypertension associated with another disease
Category
275798
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275798
Pulmonary arterial hypertension associated with connective tissue disease
Clinical group
275803
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275803
Pulmonary arterial hypertension associated with congenital heart disease
Clinical group
97214
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97214
Eisenmenger syndrome
Malformation syndrome
275808
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275808
Pulmonary arterial hypertension associated with HIV infection
Clinical group
275813
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275813
Pulmonary arterial hypertension associated with portal hypertension
Clinical group
275823
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275823
Pulmonary arterial hypertension associated with schistosomiasis
Clinical group
275828
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275828
Pulmonary arterial hypertension associated with chronic hemolytic anemia
Clinical group
275837
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275837
Pulmonary hypertension owing to lung disease and/or hypoxia
Clinical group
275844
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275844
Pulmonary hypertension with unclear multifactorial mechanism
Clinical group
275853
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275853
Syndrome with pulmonary hypertension as a major feature
Category
52047
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52047
Braddock syndrome
Malformation syndrome
363694
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363694
Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
Disease
404463
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404463
Multisystemic smooth muscle dysfunction syndrome
Disease
431353
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=431353
Pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis
Category
31837
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31837
Pulmonary venoocclusive disease
Disease
199241
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199241
Pulmonary capillary hemangiomatosis
Disease
97957
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97957
Respiratory or thoracic malformation
Category
182108
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182108
Thoracic malformation
Category
1505
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1505
Short rib-polydactyly syndrome
Clinical group
474
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=474
Jeune syndrome
Malformation syndrome
289
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289
Ellis Van Creveld syndrome
Malformation syndrome
1515
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1515
Cranioectodermal dysplasia
Malformation syndrome
93268
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93268
Short rib-polydactyly syndrome, Beemer-Langer type
Malformation syndrome
93269
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93269
Short rib-polydactyly syndrome, Majewski type
Malformation syndrome
93270
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93270
Short rib-polydactyly syndrome, Saldino-Noonan type
Malformation syndrome
93271
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93271
Short rib-polydactyly syndrome, Verma-Naumoff type
Malformation syndrome
397715
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397715
Joubert syndrome with Jeune asphyxiating thoracic dystrophy
Malformation syndrome
498497
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498497
Short rib-polydactyly syndrome type 5
Malformation syndrome
957
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=957
Acropectorovertebral dysplasia
Malformation syndrome
994
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=994
Fetal akinesia deformation sequence
Malformation syndrome
1486
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1486
Lethal congenital contracture syndrome type 1
Malformation syndrome
1803
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1803
Thoracomelic dysplasia
Disease
1861
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1861
Thoracic dysplasia-hydrocephalus syndrome
Malformation syndrome
2017
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2017
Sternal cleft
Morphological anomaly
2391
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2391
Congenitally short costocoracoid ligament
Malformation syndrome
2470
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2470
Matthew-Wood syndrome
Malformation syndrome
2753
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2753
Orofaciodigital syndrome type 4
Malformation syndrome
3181
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3181
Sprengel deformity
Morphological anomaly
3317
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3317
Thoracolaryngopelvic dysplasia
Malformation syndrome
73230
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73230
Ossification anomalies-psychomotor developmental delay syndrome
Disease
464366
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464366
NEK9-related lethal skeletal dysplasia
Malformation syndrome
182111
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182111
Respiratory malformation
Category
99083
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99083
Pulmonary artery hypoplasia
Morphological anomaly
3188
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3188
Congenital pulmonary veins atresia or stenosis
Clinical group
99126
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99126
Congenital pulmonary vein atresia
Morphological anomaly
642071
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642071
Primary pulmonary vein stenosis
Disease
185
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=185
Scimitar syndrome
Malformation syndrome
2414
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2414
Congenital pulmonary lymphangiectasia
Disease
2444
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2444
Congenital pulmonary airway malformation
Malformation syndrome
280827
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280827
Congenital pulmonary airway malformation type 0
Clinical subtype
280832
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280832
Congenital pulmonary airway malformation type 1
Clinical subtype
280840
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280840
Congenital pulmonary airway malformation type 2
Clinical subtype
280847
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280847
Congenital pulmonary airway malformation type 3
Clinical subtype
280854
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280854
Congenital pulmonary airway malformation type 4
Clinical subtype
3346
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3346
Tracheal agenesis
Morphological anomaly
984
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=984
Pulmonary agenesis
Morphological anomaly
2040
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2040
Congenital respiratory-biliary fistula
Morphological anomaly
1928
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1928
Congenital lobar emphysema
Morphological anomaly
1120
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1120
Lung agenesis-heart defect-thumb anomalies syndrome
Malformation syndrome
2004
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2004
Laryngotracheoesophageal cleft
Morphological anomaly
93938
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93938
Laryngotracheoesophageal cleft type 1
Clinical subtype
93939
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93939
Laryngotracheoesophageal cleft type 2
Clinical subtype
93940
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93940
Laryngotracheoesophageal cleft type 3
Clinical subtype
93941
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93941
Laryngotracheoesophageal cleft type 4
Clinical subtype
280205
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280205
Laryngotracheoesophageal cleft type 0
Clinical subtype
2257
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2257
Primary pulmonary hypoplasia
Morphological anomaly
2407
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2407
Laryngo-onycho-cutaneous syndrome
Disease
2470
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2470
Matthew-Wood syndrome
Malformation syndrome
3035
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3035
Growth delay-hydrocephaly-lung hypoplasia syndrome
Malformation syndrome
3317
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3317
Thoracolaryngopelvic dysplasia
Malformation syndrome
1132
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1132
Aortic arch defects
Category
99075
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99075
Encircling double aortic arch
Morphological anomaly
99076
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99076
Persistent fifth aortic arch
Morphological anomaly
99077
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99077
Kommerell diverticulum
Morphological anomaly
99078
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99078
Neuhauser anomaly
Morphological anomaly
99079
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99079
Cervical aortic arch
Morphological anomaly
99081
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99081
Right aortic arch
Morphological anomaly
99082
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99082
Dysphagia lusoria
Morphological anomaly
3161
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3161
Congenital pulmonary sequestration
Malformation syndrome
280802
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280802
Intralobar congenital pulmonary sequestration
Clinical subtype
280811
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280811
Extralobar congenital pulmonary sequestration
Clinical subtype
280821
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280821
Communicating congenital bronchopulmonary-foregut malformation
Clinical subtype
70589
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70589
Bronchopulmonary dysplasia
Malformation syndrome
95430
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95430
Congenital tracheomalacia
Morphological anomaly
411501
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411501
Williams-Campbell syndrome
Morphological anomaly
649014
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=649014
Bronchial malformation
Clinical group
648992
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=648992
Non-syndromic bridging bronchus
Morphological anomaly
649010
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=649010
Non-syndromic congenital bronchial atresia
Morphological anomaly
649029
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=649029
Isolated left bronchial isomerism
Morphological anomaly
2357
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2357
Bronchogenic cyst
Morphological anomaly
774
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=774
Hereditary hemorrhagic telangiectasia
Disease
454750
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=454750
Isolated tracheoesophageal fistula
Morphological anomaly
2038
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2038
Pulmonary arteriovenous malformation
Morphological anomaly
99050
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99050
Abnormal origin of right or left pulmonary artery from the aorta
Morphological anomaly
98060
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98060
Rare respiratory tumor
Category
466962
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466962
SMARCA4-deficient sarcoma of thorax
Disease
150
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=150
Nasopharyngeal carcinoma
Disease
101945
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101945
Rare bronchopulmonary tumor
Category
2420
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2420
Primary pulmonary lymphoma
Disease
50251
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50251
Pleural mesothelioma
Disease
64741
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64741
Pulmonary blastoma
Disease
64742
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64742
Pleuropulmonary blastoma
Disease
99933
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99933
Pleuropulmonary blastoma type 1
Clinical subtype
99934
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99934
Pleuropulmonary blastoma type 2
Clinical subtype
99935
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99935
Pleuropulmonary blastoma type 3
Clinical subtype
284343
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284343
DICER1 tumor-predisposition syndrome
Disease
284362
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284362
Fetal lung interstitial tumor
Clinical subtype
70573
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70573
Small cell lung cancer
Disease
97287
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97287
Bronchial neuroendocrine tumor
Disease
284395
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284395
Well-differentiated fetal adenocarcinoma of the lung
Disease
101944
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101944
Rare pulmonary disease
Category
389
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=389
Langerhans cell histiocytosis
Disease
586
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=586
Cystic fibrosis
Disease
60
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=60
Alpha-1-antitrypsin deficiency
Disease
2140
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2140
Congenital diaphragmatic hernia
Morphological anomaly
2903
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2903
Familial spontaneous pneumothorax
Disease
244
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=244
Primary ciliary dyskinesia
Disease
1164
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1164
Allergic bronchopulmonary aspergillosis
Disease
3471
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3471
Young syndrome
Disease
3167
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3167
Siegler-Brewer-Carey syndrome
Malformation syndrome
1303
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1303
Bronchiolitis obliterans
Clinical group
658602
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=658602
Transplant-related bronchiolitis obliterans
Disease
658612
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=658612
Non-transplant-related bronchiolitis obliterans
Disease
3348
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3348
Tracheobronchopathia osteochondroplastica
Disease
36238
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36238
Staphylococcal necrotizing pneumonia
Disease
60026
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=60026
Pulmonary nodular lymphoid hyperplasia
Disease
60032
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=60032
Recurrent respiratory papillomatosis
Disease
60033
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=60033
Idiopathic bronchiectasis
Disease
70588
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70588
Meconium aspiration syndrome
Disease
70590
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70590
Infantile apnea
Disease
90060
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90060
Diffuse alveolar hemorrhage
Clinical syndrome
90291
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90291
Systemic sclerosis
Disease
220393
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220393
Diffuse cutaneous systemic sclerosis
Clinical subtype
220402
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220402
Limited cutaneous systemic sclerosis
Clinical subtype
220407
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220407
Limited systemic sclerosis
Clinical subtype
140896
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140896
Severe acute respiratory syndrome
Disease
168593
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168593
Sudden infant death-dysgenesis of the testes syndrome
Malformation syndrome
171700
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171700
Diffuse panbronchiolitis
Disease
178320
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178320
Acute lung injury
Particular clinical situation in a disease or syndrome
182095
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182095
Interstitial lung disease
Category
264656
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264656
Interstitial lung disease specific to childhood
Category
264665
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264665
Primary interstitial lung disease specific to childhood
Category
137631
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137631
Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome
Disease
264670
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264670
Primary interstitial lung disease specific to childhood due to alveolar structure disorder
Category
70587
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70587
Infant acute respiratory distress syndrome
Disease
100049
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100049
Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies
Category
209905
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209905
Brain-lung-thyroid syndrome
Disease
217563
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217563
Neonatal acute respiratory distress due to SP-B deficiency
Disease
264675
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264675
Hereditary pulmonary alveolar proteinosis
Disease
440402
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=440402
Interstitial lung disease due to ABCA3 deficiency
Disease
440427
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=440427
Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
Disease
572428
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572428
Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia
Disease
306504
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306504
Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome
Disease
264683
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264683
Primary interstitial lung disease specific to childhood due to alveolar vascular disorder
Category
2414
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2414
Congenital pulmonary lymphangiectasia
Disease
662
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662
Yellow nail syndrome
Disease
210122
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210122
Congenital alveolar capillary dysplasia
Disease
264688
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264688
Congenital chylothorax
Disease
264691
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264691
Isolated pulmonary capillaritis
Disease
352629
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352629
16q24.1 microdeletion syndrome
Disease
264694
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264694
Interstitial lung disease specific to infancy
Category
91359
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91359
Chronic pneumonitis of infancy
Disease
217557
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217557
Pulmonary interstitial glycogenosis
Disease
217560
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217560
Neuroendocrine cell hyperplasia of infancy
Disease
621758
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=621758
Fibrosis-neurodegeneration-cerebral angiomatosis syndrome
Disease
264699
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264699
Secondary interstitial lung disease specific to childhood associated with a systemic disease
Category
264704
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264704
Secondary interstitial lung disease specific to childhood associated with a connective tissue disease
Category
92
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=92
Juvenile idiopathic arthritis
Clinical group
85410
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85410
Oligoarticular juvenile idiopathic arthritis
Disease
85414
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85414
Systemic-onset juvenile idiopathic arthritis
Disease
85436
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85436
Psoriasis-related juvenile idiopathic arthritis
Disease
85438
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85438
Enthesitis-related juvenile idiopathic arthritis
Disease
91140
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91140
Unspecified juvenile idiopathic arthritis
Disease
404580
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404580
Polyarticular juvenile idiopathic arthritis
Clinical group
85408
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85408
Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
Disease
85435
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85435
Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis
Disease
93552
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93552
Pediatric systemic lupus erythematosus
Disease
93568
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93568
Juvenile polymyositis
Disease
93672
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93672
Juvenile dermatomyositis
Disease
264709
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264709
Secondary interstitial lung disease specific to childhood associated with a systemic vasculitis
Category
761
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=761
Immunoglobulin A vasculitis
Disease
264714
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264714
Secondary interstitial lung disease specific to childhood associated with a granulomatous disease
Category
379
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=379
Chronic granulomatous disease
Disease
90340
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90340
Blau syndrome
Disease
264719
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264719
Secondary interstitial lung disease specific to childhood associated with a metabolic disease
Category
405
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=405
Familial hypocalciuric hypercalcemia
Disease
93372
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93372
Familial hypocalciuric hypercalcemia type 1
Etiological subtype
101049
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101049
Familial hypocalciuric hypercalcemia type 2
Etiological subtype
101050
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101050
Familial hypocalciuric hypercalcemia type 3
Etiological subtype
77260
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77260
Gaucher disease type 2
Clinical subtype
77261
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77261
Gaucher disease type 3
Clinical subtype
231500
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231500
Hermansky-Pudlak syndrome due to BLOC-3 deficiency
Clinical subtype
618899
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=618899
Acid sphingomyelinase deficiency
Clinical group
77292
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77292
Infantile neurovisceral acid sphingomyelinase deficiency
Disease
77293
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77293
Chronic visceral acid sphingomyelinase deficiency
Disease
618891
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=618891
Chronic neurovisceral acid sphingomyelinase deficiency
Disease
444092
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444092
Autoimmune interstitial lung disease-arthritis syndrome
Disease
619367
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=619367
SAMD9L-associated autoinflammatory syndrome
Disease
264735
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264735
Interstitial lung disease specific to adulthood
Category
264740
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264740
Primary interstitial lung disease specific to adulthood
Category
122
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=122
Birt-Hogg-Dubé syndrome
Malformation syndrome
538
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=538
Lymphangioleiomyomatosis
Disease
747
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=747
Autoimmune pulmonary alveolar proteinosis
Disease
70578
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70578
Adult acute respiratory distress syndrome
Disease
98300
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98300
Idiopathic interstitial pneumonia
Clinical group
2032
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2032
Idiopathic pulmonary fibrosis
Disease
1302
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1302
Cryptogenic organizing pneumonia
Disease
79126
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79126
Acute interstitial pneumonia
Disease
79127
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79127
Respiratory bronchiolitis-interstitial lung disease syndrome
Disease
79128
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79128
Lymphoid interstitial pneumonia
Disease
91364
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91364
Non-specific interstitial pneumonia
Disease
98852
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98852
Desquamative interstitial pneumonia
Disease
300564
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300564
Combined pulmonary fibrosis-emphysema syndrome
Disease
494428
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494428
Idiopathic pleuroparenchymal fibroelastosis
Disease
182098
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182098
Pneumoconiosis
Clinical group
2302
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2302
Asbestos intoxication
Disease
133
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=133
Chronic beryllium disease
Disease
210136
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210136
Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome
Disease
221043
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221043
Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome
Disease
617916
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=617916
Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia
Disease
264745
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264745
Secondary interstitial lung disease specific to adulthood associated with a systemic disease
Category
81
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=81
Antisynthetase syndrome
Disease
797
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=797
Sarcoidosis
Disease
264757
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264757
Interstitial lung disease in childhood and adulthood
Category
264762
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264762
Primary interstitial lung disease in childhood and adulthood
Category
99931
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99931
Idiopathic pulmonary hemosiderosis
Disease
264930
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264930
Primary interstitial lung disease in childhood and adulthood due to alveolar structure disorder
Category
217566
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217566
Chronic respiratory distress with surfactant metabolism deficiency
Disease
440392
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=440392
Interstitial lung disease due to SP-C deficiency
Disease
264935
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264935
Primary interstitial lung disease in childhood and adulthood due to alveolar vascular disorder
Category
182101
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182101
Idiopathic eosinophilic pneumonia
Clinical group
2902
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2902
Idiopathic chronic eosinophilic pneumonia
Disease
724
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=724
Idiopathic acute eosinophilic pneumonia
Disease
264944
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264944
Secondary interstitial lung disease in childhood and adulthood
Category
99930
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99930
Secondary pulmonary hemosiderosis
Disease
99932
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99932
Heiner syndrome
Clinical subtype
264949
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264949
Secondary interstitial lung disease in childhood and adulthood associated with a systemic disease
Category
375
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=375
Anti-glomerular basement membrane disease
Disease
182104
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182104
Secondary interstitial lung disease in childhood and adulthood associated with a connective tissue disease
Category
809
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=809
Mixed connective tissue disease
Disease
264968
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264968
Secondary interstitial lung disease in childhood and adulthood associated with a metabolic disease
Category
646
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=646
Niemann-Pick disease type C
Disease
216972
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216972
Niemann-Pick disease type C, severe perinatal form
Clinical subtype
216975
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216975
Niemann-Pick disease type C, severe early infantile neurologic onset
Clinical subtype
216978
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216978
Niemann-Pick disease type C, late infantile neurologic onset
Clinical subtype
216981
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216981
Niemann-Pick disease type C, juvenile neurologic onset
Clinical subtype
216986
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216986
Niemann-Pick disease type C, adult neurologic onset
Clinical subtype
77259
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77259
Gaucher disease type 1
Clinical subtype
264973
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264973
Secondary interstitial lung disease in childhood and adulthood associated with a systemic vasculitis
Category
91138
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91138
Cryoglobulinemic vasculitis
Disease
93554
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93554
Mixed cryoglobulinemia type II
Etiological subtype
93555
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93555
Mixed cryoglobulinemia type III
Etiological subtype
156152
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156152
Anti-neutrophil cytoplasmic antibody-associated vasculitis
Clinical group
183
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183
Eosinophilic granulomatosis with polyangiitis
Disease
727
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=727
Microscopic polyangiitis
Disease
900
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=900
Granulomatosis with polyangiitis
Disease
264984
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264984
Exposure-related interstitial lung disease
Category
31740
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31740
Hypersensitivity pneumonitis
Clinical group
99907
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99907
House allergic alveolitis
Disease
99909
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99909
Occupational allergic alveolitis
Clinical group
99906
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99906
Farmer's lung disease
Disease
99908
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99908
Pigeon-breeder lung disease
Disease
264978
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264978
Drug or radiation exposure-related interstitial lung disease
Particular clinical situation in a disease or syndrome
420259
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420259
Secondary pulmonary alveolar proteinosis
Disease
228426
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228426
Syndromic multisystem autoimmune disease due to Itch deficiency
Disease
247522
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247522
Primary ciliary dyskinesia-retinitis pigmentosa syndrome
Disease
411703
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411703
Pulmonary non-tuberculous mycobacterial infection
Disease
439881
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439881
Plastic bronchitis
Particular clinical situation in a disease or syndrome
425120
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=425120
STING-associated vasculopathy with onset in infancy
Disease
330012
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=330012
High altitude pulmonary edema
Particular clinical situation in a disease or syndrome
293987
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293987
Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome
Disease
505248
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=505248
Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders
Malformation syndrome
90066
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90066
Pneumonia caused by Pseudomonas aeruginosa infection
Particular clinical situation in a disease or syndrome
576074
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=576074
Middle East respiratory syndrome
Disease
449266
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=449266
Pleural empyema
Particular clinical situation in a disease or syndrome
454836
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=454836
Avian influenza
Disease
505395
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=505395
Ventilator-induced diaphragmatic dysfunction
Particular clinical situation in a disease or syndrome
99803
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99803
Haddad syndrome
Malformation syndrome
661
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=661
Congenital central hypoventilation syndrome
Disease
217080
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217080
Pulmonary fungal infections in patients deemed at risk
Particular clinical situation in a disease or syndrome
99981
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99981
Apnea of prematurity
Disease
656273
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=656273
Hypotonia-hypoventilation-intellectual disability-dysautonomia-epilepsy-eye abnormalities syndrome
Clinical syndrome
645814
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645814
Primary pulmonary tuberculosis
Disease
289390
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289390
Primary Sjögren syndrome
Disease
289877
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289877
Transient hyperammonemia of the newborn
Particular clinical situation in a disease or syndrome