Respiratory insufficiency

Symptom Information:

Symptom ID: HPO:0002093
Synonyms:
Respiratory failure [HPO:0002093]
Respiratory impairment [HPO:0002093]
Respiratory insufficiency/failure [HPO:0002093]
Respiratory failure [Orphanet:33100]
Respiratory failure (disorder) [Orphanet:33100]
Respiratory Failure [Orphanet:33100]
Respiratory failure [OMIM:Respiratory failure]
Respiratory impairment [OMIM:Respiratory impairment]
Respiratory insufficiency [OMIM:Respiratory insufficiency]
Respiratory insufficiency/failure [OMIM:Respiratory insufficiency/failure]
Respiratory distress/dyspnea/respiratory failure/lung volume reduction [Orphanet:33100]
Respiratory failure [MedDRA:10038695]
Failure respiratory [MedDRA:10038695]
Other pulmonary insufficiency, not elsewhere classified [MedDRA:10038695]
Pulmonary insufficiency following trauma and surgery [MedDRA:10038695]
Respiration failure [MedDRA:10038695]
Respiratory failure (excl neonatal) [MedDRA:10038695]
Respiratory insufficiency [MedDRA:10038695]
Ventilatory failure [MedDRA:10038695]
Pulmonary failure [MedDRA:10038695]
Hypercapnic respiratory failure [MedDRA:10038695]
Restrictive respiratory insufficiency [MedDRA:10038695]
Respiratory failure aggravated [MedDRA:10038695]
Pulmonary failure [OMIM:Pulmonary failure]
Respiratory failure (in some patients) [OMIM:Respiratory failure (in some patients)]
Respiratory insufficiency (1 patient) [OMIM:Respiratory insufficiency (1 patient)]
Respiratory insufficiency (secondary to chest deformity) [OMIM:Respiratory insufficiency (secondary to chest deformity)]
Lung volume reduction [Orphanet:33100]
Respiratory failures (excl neonatal) [MedDRA:10052549]
Quality:
Cross references:
Orphanet:33100 "Respiratory distress/dyspnea/respiratory failure/lung volume reduction" [Orphanet:33100]
OMIM: "Respiratory failure" [OMIM:Respiratory failure]
OMIM: "Respiratory impairment" [OMIM:Respiratory impairment]
OMIM: "Respiratory insufficiency" [OMIM:Respiratory insufficiency]
OMIM: "Respiratory insufficiency/failure" [OMIM:Respiratory insufficiency/failure]
OMIM: "Pulmonary failure" [OMIM:Pulmonary failure]
OMIM: "Respiratory failure (in some patients)" [OMIM:Respiratory failure (in some patients)]
OMIM: "Respiratory insufficiency (1 patient)" [OMIM:Respiratory insufficiency (1 patient)]
OMIM: "Respiratory insufficiency (secondary to chest deformity)" [OMIM:Respiratory insufficiency (secondary to chest deformity)]
UMLS:C1145670 "Respiratory Failure" [Orphanet:33100]
Is a (Direct Parents):
HPO         Functional respiratory abnormality
MedDRA Respiratory disorders NEC
HPO         Abnormality of lung morphology
Orphanet Abnormality of the respiratory system
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Abnormality of the respiratory system(HPO:0002086)
          Abnormal respiratory system morphology(HPO:0012252)
             Abnormality of lung morphology(HPO:0002088)
                Respiratory insufficiency(HPO:0002093)
          Functional respiratory abnormality(HPO:0002795)
             Respiratory insufficiency(HPO:0002093)
MedDRA:
Respiratory, thoracic and mediastinal disorders(MedDRA:10038738)
    Respiratory disorders NEC(MedDRA:10038716)
       Respiratory insufficiency(HPO:0002093)
Database Frequency: 410 / 7739
Resource:

All diseases associated with this symptom:

17q23.1q23.2 microdeletion syndrome (Orphanet:261279)
46,XX disorder of sex development - anorectal anomalies (Orphanet:2973)
ARTHROGRYPOSIS, DISTAL, WITH MENTAL RETARDATION AND CHARACTERISTICFACIES (OMIM:208081)
ASPARAGINE SYNTHETASE DEFICIENCY (OMIM:615574)
Achondrogenesis type 1B (Orphanet:93298)
Acute interstitial pneumonia (Orphanet:79126)
Adducted thumbs - arthrogryposis, Christian type (Orphanet:2952)
Adult intestinal botulism (Orphanet:178487)
Adult pulmonary Langerhans cell histiocytosis (Orphanet:99874)
Aggressive systemic mastocytosis (Orphanet:98850)
Agnathia - holoprosencephaly - situs inversus (Orphanet:990)
Alexander disease (Orphanet:58)
Allergic bronchopulmonary aspergillosis (Orphanet:1164)
Alpha-thalassemia - myelodysplastic syndrome (Orphanet:231401)
Alport syndrome (Orphanet:63)
Alström syndrome (Orphanet:64)
Alveolar echinococcosis (Orphanet:284)
Anti-glomerular basement membrane disease (Orphanet:375)
Antisynthetase syndrome (Orphanet:81)
Aortic arch defects (Orphanet:1132)
Apert syndrome (Orphanet:87)
Arachnodactyly - abnormal ossification - intellectual deficit (Orphanet:1129)
Arterial tortuosity syndrome (Orphanet:3342)
Atelosteogenesis type II (Orphanet:56304)
Autoimmune hemolytic anemia (Orphanet:98375)
Autoimmune hemolytic anemia, cold type (Orphanet:228312)
Autosomal dominant Larsen syndrome (Orphanet:503)
Autosomal recessive cutis laxa type 1 (Orphanet:90349)
Autosomal recessive limb-girdle muscular dystrophy type 2D (Orphanet:62)
Autosomal recessive limb-girdle muscular dystrophy type 2E (Orphanet:119)
Autosomal recessive limb-girdle muscular dystrophy type 2F (Orphanet:219)
Autosomal recessive limb-girdle muscular dystrophy type 2T (Orphanet:363623)
Autosomal recessive multiple pterygium syndrome (Orphanet:2990)
Autosomal recessive polycystic kidney disease (Orphanet:731)
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency (Orphanet:331176)
Autosomal recessive spondylocostal dysostosis (Orphanet:2311)
BROWN-VIALETTO-VAN LAERE SYNDROME 2 (OMIM:614707)
Babesiosis (Orphanet:108)
Bardet-Biedl syndrome 16 (OMIM:615993)
Beemer-Ertbruggen syndrome (Orphanet:1237)
Beta-thalassemia (Orphanet:848)
Beta-thalassemia major (Orphanet:231214)
Biotinidase deficiency (Orphanet:79241)
Blau syndrome (Orphanet:90340)
Blepharophimosis-intellectual deficit syndrome, Ohdo type (Orphanet:2728)
Bone dysplasia, lethal Holmgren type (Orphanet:1842)
Botulism (Orphanet:1267)
Braddock syndrome (Orphanet:52047)
Bronchiolitis obliterans with obstructive pulmonary disease (Orphanet:1303)
Bruck syndrome (Orphanet:2771)
CARDIONEUROMYOPATHY WITH HYALINE MASSES AND NEMALINE RODS (OMIM:606842)
CHARGE syndrome (Orphanet:138)
CILIARY DYSKINESIA, PRIMARY, 18 (OMIM:614874)
CIRCUMVALLATE PLACENTA SYNDROME (OMIM:215550)
CLN10 disease (Orphanet:228337)
COENZYME Q10 DEFICIENCY, PRIMARY, 7 (OMIM:616276)
CREST syndrome (Orphanet:90290)
CYSTINOSIS, NEPHROPATHIC (OMIM:219800)
Caffey disease (Orphanet:1310)
Campomelic dysplasia (Orphanet:140)
Cap myopathy (Orphanet:171881)
Carbamoylphosphate synthetase deficiency (Orphanet:147)
Cardiomyopathy-hypotonia-lactic acidosis syndrome (Orphanet:91130)
Carnitine palmitoyl transferase II deficiency, neonatal form (Orphanet:228308)
Cartilage-hair hypoplasia (Orphanet:175)
Caudal appendage - deafness (Orphanet:1123)
Centronuclear myopathy (Orphanet:595)
Cerebro-costo-mandibular syndrome (Orphanet:1393)
Cerebrotendinous xanthomatosis (Orphanet:909)
Cholera (Orphanet:173)
Cogan syndrome (Orphanet:1467)
Combined pulmonary fibrosis-emphysema syndrome (Orphanet:300564)
Congenital alveolar capillary dysplasia (Orphanet:210122)
Congenital brain dysgenesis due to glutamine synthetase deficiency (Orphanet:71278)
Congenital fiber-type disproportion myopathy (Orphanet:2020)
Congenital laryngeal web (Orphanet:2374)
Congenital lethal erythroderma (Orphanet:1954)
Congenital lobar emphysema (Orphanet:1928)
Congenital multicore myopathy with external ophthalmoplegia (Orphanet:98905)
Congenital muscular dystrophy due to LMNA mutation (Orphanet:157973)
Congenital muscular dystrophy type 1A (Orphanet:258)
Congenital neuronal ceroid lipofuscinosis (Orphanet:168486)
Congenital pulmonary airway malformation (Orphanet:2444)
Congenital pulmonary lymphangiectasia (Orphanet:2414)
Congenital pulmonary veins atresia or stenosis (Orphanet:3188)
Congenital pulmonary venous return anomaly (Orphanet:3090)
Congenital unilateral hypoplasia of depressor anguli oris (Orphanet:1166)
Cooper-Jabs syndrome (Orphanet:1488)
Costello syndrome (Orphanet:3071)
Craniosynostosis - fibular aplasia (Orphanet:1533)
Criss-cross heart (Orphanet:1461)
Crouzon disease (Orphanet:207)
Crouzon syndrome - acanthosis nigricans (Orphanet:93262)
Cryptogenic organizing pneumonia (Orphanet:1302)
Cutaneous mastocytosis (Orphanet:66646)
Cutis gyrata - acanthosis nigricans - craniosynostosis (Orphanet:1555)
Cutis laxa (Orphanet:209)
Cystic hamartoma of lung and kidney (Orphanet:2111)
Cystinosis (Orphanet:213)
D,L-2-hydroxyglutaric aciduria (Orphanet:356978)
DPAGT1-CDG (Orphanet:86309)
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 3 (OMIM:613990)
Deafness - lymphedema - leukemia (Orphanet:3226)
Dermatomyositis (Orphanet:221)
Desquamative interstitial pneumonia (Orphanet:98852)
Diaphanospondylodysostosis (Orphanet:66637)
Diastrophic dwarfism (Orphanet:628)
Distal monosomy 17q (Orphanet:1597)
Distal myopathy with early respiratory muscle involvement (Orphanet:34521)
Drug rash with eosinophilia and systemic symptoms (Orphanet:139402)
Drug-induced autoimmune hemolytic anemia (Orphanet:90037)
Dubowitz syndrome (Orphanet:235)
Duchenne muscular dystrophy (Orphanet:98896)
Dyssegmental dysplasia, Silverman-Handmaker type (Orphanet:1865)
EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, AUTOSOMAL DOMINANT (OMIM:612999)
Ear-patella-short stature syndrome (Orphanet:2554)
Ebstein malformation (Orphanet:1880)
Edinburgh malformation syndrome (Orphanet:1895)
Ehlers-Danlos syndrome, kyphoscoliotic type (Orphanet:1900)
Ehlers-Danlos syndrome, vascular type (Orphanet:286)
Embryofetopathy due to oral anticoagulant therapy (Orphanet:1914)
Encephalopathy due to prosaposin deficiency (Orphanet:139406)
Eosinophilic granuloma (Orphanet:99871)
Eosinophilic granulomatosis with polyangiitis (Orphanet:183)
Erdheim-Chester disease (Orphanet:35687)
Fabry disease (Orphanet:324)
Farber lipogranulomatosis (Orphanet:333)
Fatal infantile hypertonic myofibrillar myopathy (Orphanet:280553)
Fatal infantile lactic acidosis with methylmalonic aciduria (Orphanet:17)
Fatal mitochondrial disease due to combined oxidative phosphorylation deficiency 3 (Orphanet:168566)
Fetal Gaucher disease (Orphanet:85212)
Fetal akinesia deformation sequence (Orphanet:994)
Fetal akinesia-cerebral and retinal hemorrhage syndrome (Orphanet:363409)
Fibrochondrogenesis (Orphanet:2021)
Fibrodysplasia ossificans progressiva (Orphanet:337)
Fibulo-ulnar hypoplasia - renal anomalies (Orphanet:2256)
Foodborne botulism (Orphanet:228371)
GELEOPHYSIC DYSPLASIA 2 (OMIM:614185)
GMS syndrome (Orphanet:2090)
Gaucher disease (Orphanet:355)
Gaucher disease type 2 (Orphanet:77260)
Geleophysic dysplasia (Orphanet:2623)
Generalized epidermolysis bullosa simplex, non-Dowling-Meara type (Orphanet:79399)
Glaucoma - sleep apnea (Orphanet:2085)
Glycogen storage disease due to LAMP-2 deficiency (Orphanet:34587)
Glycogen storage disease due to acid maltase deficiency (Orphanet:365)
Glycogen storage disease due to acid maltase deficiency, infantile onset (Orphanet:308552)
Glycogen storage disease due to acid maltase deficiency, late-onset (Orphanet:420429)
Goldblatt syndrome (Orphanet:166272)
Good syndrome (Orphanet:169105)
Granulomatosis with polyangiitis (Orphanet:900)
HEC syndrome (Orphanet:2119)
Haddad syndrome (Orphanet:99803)
Hairy cell leukemia variant (Orphanet:300878)
Hallermann-Streiff syndrome (Orphanet:2108)
Harlequin ichthyosis (Orphanet:457)
Hartsfield-Bixler-Demyer syndrome (Orphanet:2117)
Hemorrhagic fever - renal syndrome (Orphanet:340)
Hennekam syndrome (Orphanet:2136)
Hepatic fibrosis - renal cysts - intellectual deficit (Orphanet:2031)
Hereditary neuropathy with liability to pressure palsies (Orphanet:640)
Hereditary sensory and autonomic neuropathy type 6 (Orphanet:314381)
Hermansky-Pudlak syndrome (Orphanet:79430)
Hodgkin lymphoma (Orphanet:98293)
Hodgkin lymphoma, classical (Orphanet:391)
Holocarboxylase synthetase deficiency (Orphanet:79242)
Holoprosencephaly (Orphanet:2162)
Hughes-Stovin syndrome (Orphanet:228116)
Hurler syndrome (Orphanet:93473)
Hurler-Scheie syndrome (Orphanet:93476)
Hyaline body myopathy (Orphanet:53698)
Hydatidosis (Orphanet:400)
Hydrocephalus - obesity - hypogonadism (Orphanet:2183)
Hyperkalemic periodic paralysis (Orphanet:682)
Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome (Orphanet:363694)
Hypocomplementemic urticarial vasculitis (Orphanet:36412)
Hypomyelination neuropathy - arthrogryposis (Orphanet:2680)
Hypophosphatasia (Orphanet:436)
Iatrogenic botulism (Orphanet:254509)
Idiopathic acute eosinophilic pneumonia (Orphanet:724)
Idiopathic pulmonary fibrosis (Orphanet:2032)
Idiopathic pulmonary hemosiderosis (Orphanet:99931)
Immunodeficiency with natural-killer cell deficiency (Orphanet:75391)
Imperforate oropharynx - costo vetebral anomalies (Orphanet:2759)
Indomethacin embryofetopathy (Orphanet:1909)
Infant botulism (Orphanet:178478)
Infantile symmetrical thalamic degeneration (Orphanet:3311)
Infantile thalamic degeneration (Orphanet:1577)
Inhalational botulism (Orphanet:254504)
Intellectual deficit, X-linked - seizures - psoriasis (Orphanet:3052)
Intestinal botulism (Orphanet:178481)
Isolated 3-methylcrotonyl-CoA carboxylase deficiency (Orphanet:6)
Isolated NADH-CoQ reductase deficiency (Orphanet:2609)
Isolated Pierre Robin syndrome (Orphanet:718)
Isolated polycystic liver disease (Orphanet:2924)
Jeune syndrome (Orphanet:474)
Joubert syndrome 20 (OMIM:614970)
Junctional epidermolysis bullosa (Orphanet:305)
Juvenile dermatomyositis (Orphanet:93672)
KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY (OMIM:611722)
Kleefstra syndrome (Orphanet:261494)
Klippel-Trénaunay syndrome (Orphanet:90308)
Kniest dysplasia (Orphanet:485)
LOC syndrome (Orphanet:2407)
Laryngeal abductor paralysis (Orphanet:2808)
Laryngeal abductor paralysis - intellectual deficit (Orphanet:2375)
Laryngo-tracheo-esophageal cleft - pulmonary hypoplasia (Orphanet:2005)
Larynx atresia (Orphanet:1202)
Legionellosis (Orphanet:549)
Leigh syndrome (Orphanet:506)
Lethal Kniest-like dysplasia (Orphanet:2347)
Lethal Larsen-like syndrome (Orphanet:2371)
Lethal ataxia with deafness and optic atrophy (Orphanet:1187)
Lethal congenital contracture syndrome type 2 (Orphanet:137776)
Lethal congenital contracture syndrome type 3 (Orphanet:137783)
Lethal hemolytic anemia - genital anomalies (Orphanet:1046)
Lethal osteosclerotic bone dysplasia (Orphanet:1832)
Lethal recessive chondrodysplasia (Orphanet:1423)
Lethal restrictive dermopathy (Orphanet:1662)
Limb transversal defect - cardiac anomaly (Orphanet:2492)
Locked-in syndrome (Orphanet:2406)
Lower limb deficiency - hypospadias (Orphanet:2487)
Lujo hemorrhagic fever (Orphanet:319213)
Lung agenesis - heart defect - thumb anomalies (Orphanet:1120)
Lyell syndrome (Orphanet:537)
Lymphangioleiomyomatosis (Orphanet:538)
Lymphoid interstitial pneumonia (Orphanet:79128)
Lysinuric protein intolerance (Orphanet:470)
MELAS (Orphanet:550)
MENTAL RETARDATION, AUTOSOMAL DOMINANT 31 (OMIM:616158)
MERRF (Orphanet:551)
MICROPHTHALMIA, SYNDROMIC 9 (OMIM:601186)
MOTOR NEURON DISEASE WITH DEMENTIA AND OPHTHALMOPLEGIA (OMIM:600333)
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1 (OMIM:605711)
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 (OMIM:614299)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 4 (OMIM:253800)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 5 (OMIM:613153)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),TYPE B, 2 (OMIM:613156)
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINERECEPTOR DEFICIENCY (OMIM:616326)
MYASTHENIC SYNDROME, CONGENITAL, 18 (OMIM:616330)
MYASTHENIC SYNDROME, CONGENITAL, 2C, ASSOCIATED WITH ACETYLCHOLINERECEPTOR DEFICIENCY (OMIM:616314)
MYASTHENIC SYNDROME, CONGENITAL, 3A, SLOW-CHANNEL (OMIM:616321)
MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL (OMIM:616322)
MYASTHENIC SYNDROME, CONGENITAL, 3C, ASSOCIATED WITH ACETYLCHOLINERECEPTOR DEFICIENCY (OMIM:616323)
MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL (OMIM:616324)
MYASTHENIC SYNDROME, CONGENITAL, 8 (OMIM:615120)
MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINERECEPTOR DEFICIENCY (OMIM:616325)
MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET (OMIM:614399)
MYOPATHY, CENTRONUCLEAR, 5 (OMIM:615959)
Macrosomia - microphthalmia - cleft palate (Orphanet:2432)
Maculopapular cutaneous mastocytosis (Orphanet:79457)
Maffucci syndrome (Orphanet:163634)
Malignant atrophic papulosis (Orphanet:679)
Malignant hyperthermia - arthrogryposis - torticollis (Orphanet:2215)
Malignant peritoneal mesothelioma (Orphanet:168811)
Maple syrup urine disease (Orphanet:511)
Marshall-Smith syndrome (Orphanet:561)
Mastocytosis (Orphanet:98292)
Matthew-Wood syndrome (Orphanet:2470)
Metatropic dysplasia (Orphanet:2635)
Methylcobalamin deficiency type cblE (Orphanet:2169)
Methylmalonic acidemia without homocystinuria (Orphanet:293355)
Microcephalic osteodysplastic primordial dwarfism types 1 and 3 (Orphanet:2636)
Microlissencephaly - micromelia (Orphanet:50810)
Microphthalmia with linear skin defects syndrome (Orphanet:2556)
Mitochondrial encephalo-cardio-myopathy due to TMEM70 deficiency (Orphanet:1194)
Mitochondrial trifunctional protein deficiency (Orphanet:746)
Mixed connective tissue disease (Orphanet:809)
Mixed-type autoimmune hemolytic anemia (Orphanet:90036)
Multiminicore myopathy (Orphanet:598)
Multiple acyl-CoA dehydrogenase deficiency (Orphanet:26791)
Muscle filaminopathy (Orphanet:171445)
Muscular dystrophy - white matter spongiosis (Orphanet:1877)
Muscular dystrophy, Selcen type (Orphanet:199340)
Myhre syndrome (Orphanet:2588)
Myopathy, lactic acidosis, and sideroblastic anemia 1; MLASA1 (OMIM:600462)
Myotonia fluctuans (Orphanet:99734)
Myotonia permanens (Orphanet:99735)
NEMALINE MYOPATHY 1 (OMIM:609284)
NEMALINE MYOPATHY 5 (OMIM:605355)
NEMALINE MYOPATHY 9 (OMIM:615731)
NIEMANN-PICK DISEASE, TYPE C2 (OMIM:607625)
Nager syndrome (Orphanet:245)
Nakajo-Nishimura syndrome (Orphanet:2615)
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome (Orphanet:457185)
Nephronophthisis 2 (OMIM:602088)
Neuralgic amyotrophy (Orphanet:2901)
Nijmegen breakage syndrome (Orphanet:647)
Nipah virus disease (Orphanet:99825)
Non-rhizomelic chondrodysplasia punctata (Orphanet:176)
Non-specific interstitial pneumonia (Orphanet:91364)
Oculocerebrofacial syndrome, Kaufman type (Orphanet:2707)
Oculocerebrorenal syndrome (Orphanet:534)
Omphalocele syndrome, Shprintzen-Goldberg type (Orphanet:3164)
Ondine syndrome (Orphanet:661)
Opitz G/BBB syndrome (Orphanet:2745)
Opsismodysplasia (Orphanet:2746)
Osteocraniostenosis (Orphanet:2763)
Osteodysplasty, Melnick-Needles type (Orphanet:2484)
Osteogenesis imperfecta type 2 (Orphanet:216804)
Otopalatodigital syndrome type 2 (Orphanet:90652)
PONTOCEREBELLAR HYPOPLASIA, TYPE 1A (OMIM:607596)
PONTOCEREBELLAR HYPOPLASIA, TYPE 1B (OMIM:614678)
PULMONARY HEMOSIDEROSIS (OMIM:178550)
Pachyonychia congenita (Orphanet:2309)
Parana hard-skin syndrome (Orphanet:2812)
Patent arterial duct (Orphanet:706)
Paternal 20q13.2q13.3 microdeletion syndrome (Orphanet:261304)
Pelizaeus-Merzbacher disease (Orphanet:702)
Pendred syndrome (Orphanet:705)
Perinatal lethal hypophosphatasia (Orphanet:247623)
Peroxisomal acyl-CoA oxidase deficiency (Orphanet:2971)
Perry syndrome (Orphanet:178509)
Pfeiffer syndrome type 2 (Orphanet:93259)
Pfeiffer syndrome type 3 (Orphanet:93260)
Polycythemia vera (Orphanet:729)
Polymyositis (Orphanet:732)
Pontocerebellar hypoplasia type 1 (Orphanet:2254)
Pontocerebellar hypoplasia, type 9 (OMIM:615809)
Potassium-aggravated myotonia (Orphanet:612)
Primary effusion lymphoma (Orphanet:48686)
Primary familial polycythemia (Orphanet:90042)
Proximal spinal muscular atrophy type 1 (Orphanet:83330)
Pseudomyxoma peritonei (Orphanet:26790)
Pulmonary arterial hypertension (Orphanet:182090)
Pulmonary blastoma (Orphanet:64741)
Pulmonary capillary hemangiomatosis (Orphanet:199241)
Pulmonary venoocclusive disease (Orphanet:31837)
Pyruvate dehydrogenase E1-alpha deficiency (Orphanet:79243)
Pyruvate dehydrogenase deficiency (Orphanet:765)
Pyruvate dehydrogenase lipoic acid synthetase deficiency (OMIM:614462)
RESPIRATORY UNDERRESPONSIVENESS TO HYPOXIA AND HYPERCAPNIA (OMIM:267480)
RFT1-CDG (Orphanet:244310)
Radio-renal syndrome (Orphanet:3015)
Reactive arthritis (Orphanet:29207)
Refsum disease (Orphanet:773)
Relapsing polychondritis (Orphanet:728)
Renal tubular dysgenesis (Orphanet:3033)
Respiratory bronchiolitis - interstitial lung disease (Orphanet:79127)
Rett syndrome (Orphanet:778)
Reynolds syndrome (Orphanet:779)
Rhabdoid tumor (Orphanet:69077)
Rheumatic fever (Orphanet:3099)
Rhizomelic chondrodysplasia punctata (Orphanet:177)
Rhizomelic chondrodysplasia punctata type 1 (Orphanet:309789)
Riboflavin transporter deficiency (Orphanet:97229)
Richieri Costa-Pereira syndrome (Orphanet:3102)
Ring chromosome 6 (Orphanet:1448)
Rubinstein-Taybi syndrome (Orphanet:783)
SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 1 (OMIM:604320)
SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 5 (OMIM:614370)
Scheie syndrome (Orphanet:93474)
Schwartz-Jampel syndrome (Orphanet:800)
Scrub typhus (Orphanet:83317)
Severe achondroplasia - developmental delay - acanthosis nigricans (Orphanet:85165)
Severe neonatal-onset encephalopathy with microcephaly (Orphanet:209370)
Short rib-polydactyly syndrome, Beemer-Langer type (Orphanet:93268)
Short rib-polydactyly syndrome, Verma-Naumoff type (Orphanet:93271)
Short-rib thoracic dysplasia 11 with or without polydactyly (OMIM:615633)
Short-rib thoracic dysplasia 13 with or without polydactyly (OMIM:616300)
Sialidosis type 2 (Orphanet:87876)
Spondyloepimetaphyseal dysplasia congenita, Strudwick type (Orphanet:93346)
Spondylometaphyseal dysplasia, Golden type (Orphanet:168544)
Sporadic Leigh syndrome (Orphanet:255199)
Steinert myotonic dystrophy (Orphanet:273)
Sternal malformation - vascular dysplasia (Orphanet:3195)
Stevens-Johnson syndrome (Orphanet:36426)
Stüve-Wiedemann syndrome (Orphanet:3206)
Subaortic stenosis - short stature (Orphanet:3191)
Synaptic congenital myasthenic syndromes (Orphanet:98915)
Syngnathia multiple anomalies (Orphanet:3262)
Systemic sclerosis (Orphanet:90291)
THANATOPHORIC DYSPLASIA, TYPE II (OMIM:187601)
Thanatophoric dysplasia (Orphanet:2655)
Thanatophoric dysplasia type 1 (Orphanet:1860)
Thanatophoric dysplasia type 2 (Orphanet:93274)
Thoracic dysplasia-hydrocephalus syndrome (Orphanet:1861)
Thoraco-abdominal enteric duplication (Orphanet:1759)
Thoracolaryngopelvic dysplasia (Orphanet:3317)
Thrombocytopenia - Robin sequence (Orphanet:3323)
Thymic carcinoma (Orphanet:99868)
Thymic epithelial neoplasm (Orphanet:3398)
Thymic tumor (Orphanet:100100)
Thymoma (Orphanet:99867)
Toriello-Carey syndrome (Orphanet:3338)
Toxin-mediated infectious botulism (Orphanet:230800)
Tracheal agenesis (Orphanet:3346)
Transaldolase deficiency (Orphanet:101028)
Treacher-Collins syndrome (Orphanet:861)
Triple A syndrome (Orphanet:869)
Tuberous sclerosis (Orphanet:805)
Tubular aggregate myopathy (Orphanet:2593)
Ulbright-Hodes syndrome (Orphanet:3404)
VACTERL ASSOCIATION WITH HYDROCEPHALUS (OMIM:276950)
Van den Bosch syndrome (Orphanet:3417)
Vitamin B12-responsive methylmalonic acidemia (Orphanet:28)
Vitamin B12-unresponsive methylmalonic acidemia (Orphanet:27)
Vitamin B12-unresponsive methylmalonic acidemia type mut- (Orphanet:79312)
Vitamin B12-unresponsive methylmalonic acidemia type mut0 (Orphanet:289916)
Waldenström macroglobulinemia (Orphanet:33226)
Whipple disease (Orphanet:3452)
Wiskott-Aldrich syndrome (Orphanet:906)
Wolfram syndrome (Orphanet:3463)
Wound botulism (Orphanet:178475)
X-linked centronuclear myopathy (Orphanet:596)
X-linked myopathy with postural muscle atrophy (Orphanet:178461)
X-linked sideroblastic anemia (Orphanet:75563)
Yellow nail syndrome (Orphanet:662)
Zellweger syndrome (Orphanet:912)
[DEL] SENGERS SYNDROME (OMIM:212350)