Respiratory insufficiency
Symptom Information:
Symptom ID: | HPO:0002093 | |||||||||||||||||||||||||||||
Synonyms: |
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Cross references: |
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Is a (Direct Parents): |
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Is a (Whole tree): |
HPO:
All(HPO:0000001) Phenotypic abnormality(HPO:0000118) Abnormality of the respiratory system(HPO:0002086) Functional respiratory abnormality(HPO:0002795) Respiratory insufficiency(HPO:0002093) Abnormal respiratory system morphology(HPO:0012252) Abnormality of lung morphology(HPO:0002088) Respiratory insufficiency(HPO:0002093) MedDRA: Respiratory, thoracic and mediastinal disorders(MedDRA:10038738) Respiratory disorders NEC(MedDRA:10038716) Respiratory insufficiency(HPO:0002093) |
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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) |