This value set has 11,239 codes in it. In order to keep the publication size manageable, only a selection (1,000 codes) of the whole set of codes is shown.
System Code Display (en) JSON XML http://www.orpha.net 94063 12q14 microdeletion syndrome http://www.orpha.net 94065 15q24 microdeletion syndrome http://www.orpha.net 96078 16p13.3 microduplication syndrome http://www.orpha.net 97685 17q11 microdeletion syndrome http://www.orpha.net 939 3-hydroxyisobutyric aciduria http://www.orpha.net 96095 3q26 microduplication syndrome http://www.orpha.net 90796 46,XY difference of sex development due to isolated 17,20-lyase deficiency http://www.orpha.net 96263 48,XXXY syndrome http://www.orpha.net 99329 48,XYYY syndrome http://www.orpha.net 96264 49,XXXXY syndrome http://www.orpha.net 99330 49,XYYYY syndrome http://www.orpha.net 96072 4p16.3 microduplication syndrome http://www.orpha.net 99135 6-phosphogluconate dehydrogenase deficiency http://www.orpha.net 96121 7q11.23 microduplication syndrome http://www.orpha.net 96092 8p inverted duplication/deletion syndrome http://www.orpha.net 93560 AApoAI amyloidosis http://www.orpha.net 915 Aarskog-Scott syndrome http://www.orpha.net 916 Aase-Smith syndrome http://www.orpha.net 918 ABCD syndrome http://www.orpha.net 920 Ablepharon macrostomia syndrome http://www.orpha.net 99089 Abnormal number of coronary ostia http://www.orpha.net 99050 Abnormal origin of right or left pulmonary artery from the aorta http://www.orpha.net 97345 ABri amyloidosis http://www.orpha.net 921 Abruzzo-Erickson syndrome http://www.orpha.net 99112 Absence of innominate vein http://www.orpha.net 980 Absence of the pulmonary artery http://www.orpha.net 945 Acalvaria http://www.orpha.net 90301 Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome http://www.orpha.net 926 Acatalasemia http://www.orpha.net 99061 Accessory mitral valve tissue http://www.orpha.net 95462 Accessory tricuspid valve tissue http://www.orpha.net 99736 Acetazolamide-responsive myotonia http://www.orpha.net 99777 Achalasia-alacrimia syndrome http://www.orpha.net 929 Achalasia-microcephaly syndrome http://www.orpha.net 932 Achondrogenesis http://www.orpha.net 93299 Achondrogenesis type 1A http://www.orpha.net 93298 Achondrogenesis type 1B http://www.orpha.net 93296 Achondrogenesis type 2 http://www.orpha.net 95626 Acquired arginine vasopressin deficiency http://www.orpha.net 91136 Acquired monoclonal Ig light chain-associated Fanconi syndrome http://www.orpha.net 99147 Acquired von Willebrand syndrome http://www.orpha.net 90396 Acral persistent papular mucinosis http://www.orpha.net 958 Acro-renal-mandibular syndrome http://www.orpha.net 959 Acro-renal-ocular syndrome http://www.orpha.net 949 Acrocraniofacial dysostosis http://www.orpha.net 952 Acrofacial dysostosis, Weyers type http://www.orpha.net 965 Acromegaloid facial appearance syndrome http://www.orpha.net 963 Acromegaly http://www.orpha.net 964 Acromegaly-cutis verticis gyrata-corneal leukoma syndrome http://www.orpha.net 968 Acromesomelic dysplasia, Hunter-Thompson type http://www.orpha.net 956 Acropectororenal dysplasia http://www.orpha.net 957 Acropectorovertebral dysplasia http://www.orpha.net 971 Acrorenal syndrome http://www.orpha.net 99892 ACTH-dependent Cushing syndrome http://www.orpha.net 98837 Acute biphenotypic leukemia http://www.orpha.net 99920 Acute graft versus host disease http://www.orpha.net 98916 Acute inflammatory demyelinating polyradiculoneuropathy http://www.orpha.net 99887 Acute megakaryoblastic leukemia in children with Down syndrome http://www.orpha.net 98917 Acute motor and sensory axonal neuropathy http://www.orpha.net 98918 Acute motor axonal neuropathy http://www.orpha.net 98834 Acute myeloblastic leukemia with maturation http://www.orpha.net 98833 Acute myeloblastic leukemia without maturation http://www.orpha.net 98831 Acute myeloid leukemia with 11q23 abnormalities http://www.orpha.net 98829 Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) http://www.orpha.net 98832 Acute myeloid leukemia with minimal differentiation http://www.orpha.net 98835 Acute undifferentiated leukemia http://www.orpha.net 99901 Acyl-CoA dehydrogenase 9 deficiency http://www.orpha.net 974 Adams-Oliver syndrome http://www.orpha.net 97346 ADan amyloidosis http://www.orpha.net 976 Adenine phosphoribosyltransferase deficiency http://www.orpha.net 99976 Adenocarcinoma of the oesophagus and oesophagogastric junction http://www.orpha.net 95512 Adenohypophysitis http://www.orpha.net 93292 Adenoma of pancreas http://www.orpha.net 91127 Adenovirus infection in immunocompromised patients http://www.orpha.net 977 Adrenomyodystrophy http://www.orpha.net 978 ADULT syndrome http://www.orpha.net 99027 Adult-onset autosomal dominant leukodystrophy http://www.orpha.net 99000 Adult-onset foveomacular vitelliform dystrophy http://www.orpha.net 93562 AFib amyloidosis http://www.orpha.net 99114 Agenesis of the superior vena cava http://www.orpha.net 990 Agnathia-holoprosencephaly-situs inversus syndrome http://www.orpha.net 998 Albinism-deafness syndrome http://www.orpha.net 93925 Alobar holoprosencephaly http://www.orpha.net 98791 Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 http://www.orpha.net 99756 Alveolar rhabdomyosarcoma http://www.orpha.net 99694 Alveolar synechia-ankyloblepharon-ectodermal dysplasia syndrome http://www.orpha.net 93561 ALys amyloidosis http://www.orpha.net 99742 Amish lethal microcephaly http://www.orpha.net 98902 Amish nemaline myopathy http://www.orpha.net 93347 Anauxetic dysplasia http://www.orpha.net 98794 Angelman syndrome due to maternal 15q11q13 deletion http://www.orpha.net 98795 Angelman syndrome due to paternal uniparental disomy of chromosome 15 http://www.orpha.net 95429 Angioma serpiginosum http://www.orpha.net 99797 Anodontia http://www.orpha.net 95463 Anomaly of the tricuspid subvalvular apparatus http://www.orpha.net 94150 Anonychia congenita totalis http://www.orpha.net 90390 Anonychia-onychodystrophy syndrome http://www.orpha.net 91129 Anophthalmia-heart and pulmonary anomalies-intellectual disability syndrome http://www.orpha.net 93976 Anotia http://www.orpha.net 99071 Aorto-left ventricular tunnel http://www.orpha.net 99070 Aorto-right ventricular tunnel http://www.orpha.net 99981 Apnea of prematurity http://www.orpha.net 91 Aromatase deficiency http://www.orpha.net 93 Aspartylglucosaminuria http://www.orpha.net 96 Ataxia with vitamin E deficiency http://www.orpha.net 95713 Athyreosis http://www.orpha.net 95510 Atrial appendage anomaly http://www.orpha.net 99107 Atrial septal aneurysm http://www.orpha.net 99104 Atrial septal defect, coronary sinus type http://www.orpha.net 99106 Atrial septal defect, ostium primum type http://www.orpha.net 99103 Atrial septal defect, ostium secundum type http://www.orpha.net 99105 Atrial septal defect, sinus venosus type http://www.orpha.net 98824 Atypical chronic myeloid leukemia http://www.orpha.net 93581 Atypical hemolytic uremic syndrome with anti-factor H antibodies http://www.orpha.net 93304 Autosomal dominant brachyolmia http://www.orpha.net 99946 Autosomal dominant Charcot-Marie-Tooth disease type 2A1 http://www.orpha.net 99947 Autosomal dominant Charcot-Marie-Tooth disease type 2A2 http://www.orpha.net 99936 Autosomal dominant Charcot-Marie-Tooth disease type 2B http://www.orpha.net 99937 Autosomal dominant Charcot-Marie-Tooth disease type 2C http://www.orpha.net 99938 Autosomal dominant Charcot-Marie-Tooth disease type 2D http://www.orpha.net 99939 Autosomal dominant Charcot-Marie-Tooth disease type 2E http://www.orpha.net 99940 Autosomal dominant Charcot-Marie-Tooth disease type 2F http://www.orpha.net 99941 Autosomal dominant Charcot-Marie-Tooth disease type 2G http://www.orpha.net 99942 Autosomal dominant Charcot-Marie-Tooth disease type 2I http://www.orpha.net 99943 Autosomal dominant Charcot-Marie-Tooth disease type 2J http://www.orpha.net 99944 Autosomal dominant Charcot-Marie-Tooth disease type 2K http://www.orpha.net 99945 Autosomal dominant Charcot-Marie-Tooth disease type 2L http://www.orpha.net 90348 Autosomal dominant cutis laxa http://www.orpha.net 93608 Autosomal dominant distal renal tubular acidosis http://www.orpha.net 98853 Autosomal dominant Emery-Dreifuss muscular dystrophy http://www.orpha.net 93114 Autosomal dominant intermediate Charcot-Marie-Tooth disease type E http://www.orpha.net 93325 Autosomal dominant Kenny-Caffey syndrome http://www.orpha.net 99846 Autosomal dominant myoglobinuria http://www.orpha.net 93328 Autosomal dominant omodysplasia http://www.orpha.net 98673 Autosomal dominant optic atrophy, classic form http://www.orpha.net 95434 Autosomal recessive cerebellar ataxia-movement disorder syndrome http://www.orpha.net 90349 Autosomal recessive cutis laxa type 1 http://www.orpha.net 93611 Autosomal recessive distal renal tubular acidosis with deafness http://www.orpha.net 93609 Autosomal recessive distal renal tubular acidosis without deafness http://www.orpha.net 98855 Autosomal recessive Emery-Dreifuss muscular dystrophy http://www.orpha.net 93324 Autosomal recessive Kenny-Caffey syndrome http://www.orpha.net 93329 Autosomal recessive omodysplasia http://www.orpha.net 93607 Autosomal recessive proximal renal tubular acidosis http://www.orpha.net 95433 Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome http://www.orpha.net 98978 Axenfeld anomaly http://www.orpha.net 99121 Azygos continuation of the inferior vena cava http://www.orpha.net 93395 Ballard syndrome http://www.orpha.net 93605 Bartter syndrome type 3 http://www.orpha.net 98895 Becker muscular dystrophy http://www.orpha.net 96076 Beckwith-Wiedemann syndrome due to 11p15 microduplication http://www.orpha.net 96193 Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 http://www.orpha.net 99960 Benign recurrent intrahepatic cholestasis type 1 http://www.orpha.net 99961 Benign recurrent intrahepatic cholestasis type 2 http://www.orpha.net 99771 Bifid uvula http://www.orpha.net 97364 Bilateral multicystic dysplastic kidney http://www.orpha.net 98889 Bilateral perisylvian polymicrogyria http://www.orpha.net 98836 Bilineal acute leukemia http://www.orpha.net 98922 Blake pouch cyst http://www.orpha.net 98885 Bleeding diathesis due to glycoprotein VI deficiency http://www.orpha.net 98886 Bleeding diathesis due to integrin alpha2-beta1 deficiency http://www.orpha.net 93964 Blepharospasm-oromandibular dystonia syndrome http://www.orpha.net 94086 Blue diaper syndrome http://www.orpha.net 91135 Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency http://www.orpha.net 97297 Bohring-Opitz syndrome http://www.orpha.net 93388 Brachydactyly type A1 http://www.orpha.net 93396 Brachydactyly type A2 http://www.orpha.net 93394 Brachydactyly type A4 http://www.orpha.net 93389 Brachydactyly type A5 http://www.orpha.net 93382 Brachydactyly type A6 http://www.orpha.net 93397 Brachydactyly type A7 http://www.orpha.net 93384 Brachydactyly type C http://www.orpha.net 93387 Brachydactyly type E http://www.orpha.net 93409 Brachydactyly-syndactyly, Zhao type http://www.orpha.net 93301 Brachyolmia type 1, Hobaek type http://www.orpha.net 93303 Brachyolmia type 1, Toledo type http://www.orpha.net 93302 Brachyolmia, Maroteaux type http://www.orpha.net 99990 Brill-Zinsser disease http://www.orpha.net 90354 Brittle cornea syndrome http://www.orpha.net 97287 Bronchial neuroendocrine tumor http://www.orpha.net 99001 Butterfly-shaped pigment dystrophy http://www.orpha.net 93559 C3 deposition glomerulonephritis without proliferation http://www.orpha.net 97292 Cardiogenic shock http://www.orpha.net 91130 Cardiomyopathy-hypotonia-lactic acidosis syndrome http://www.orpha.net 97355 Caribbean parkinsonism http://www.orpha.net 97286 Carney-Stratakis syndrome http://www.orpha.net 93973 Carpenter-Waziri syndrome http://www.orpha.net 98972 Central cloudy dystrophy of François http://www.orpha.net 98968 Central discoid corneal dystrophy http://www.orpha.net 90156 Centrifugal lipodystrophy http://www.orpha.net 94122 Cerebellar ataxia, Cayman type http://www.orpha.net 94084 Cerebro-oculo-facial-lymphatic syndrome http://www.orpha.net 909 Cerebrotendinous xanthomatosis http://www.orpha.net 98989 Cerulean cataract http://www.orpha.net 99079 Cervical aortic arch http://www.orpha.net 98979 Chandler syndrome http://www.orpha.net 90658 Charcot-Marie-Tooth disease type 1E http://www.orpha.net 98856 Charcot-Marie-Tooth disease type 2B1 http://www.orpha.net 99948 Charcot-Marie-Tooth disease type 4A http://www.orpha.net 99955 Charcot-Marie-Tooth disease type 4B1 http://www.orpha.net 99956 Charcot-Marie-Tooth disease type 4B2 http://www.orpha.net 99949 Charcot-Marie-Tooth disease type 4C http://www.orpha.net 99950 Charcot-Marie-Tooth disease type 4D http://www.orpha.net 99951 Charcot-Marie-Tooth disease type 4E http://www.orpha.net 99952 Charcot-Marie-Tooth disease type 4F http://www.orpha.net 99953 Charcot-Marie-Tooth disease type 4G http://www.orpha.net 99954 Charcot-Marie-Tooth disease type 4H http://www.orpha.net 99647 Cheirospondyloenchondromatosis http://www.orpha.net 90280 Chilblain lupus http://www.orpha.net 98816 Childhood occipital visual epilepsy http://www.orpha.net 99921 Chronic graft versus host disease http://www.orpha.net 98823 Chronic myelomonocytic leukemia http://www.orpha.net 91359 Chronic pneumonitis of infancy http://www.orpha.net 93971 Chudley-Lowry-Hoar syndrome http://www.orpha.net 93930 Classic bladder exstrophy http://www.orpha.net 98846 Classic Hodgkin lymphoma, lymphocyte-depleted type http://www.orpha.net 98845 Classic Hodgkin lymphoma, lymphocyte-rich type http://www.orpha.net 98844 Classic Hodgkin lymphoma, mixed cellularity type http://www.orpha.net 98843 Classic Hodgkin lymphoma, nodular sclerosis type http://www.orpha.net 95465 Cleft mitral valve http://www.orpha.net 99772 Cleft velum http://www.orpha.net 98958 Climatic droplet keratopathy http://www.orpha.net 93929 Cloacal exstrophy http://www.orpha.net 93267 Cloverleaf skull-multiple congenital anomalies syndrome http://www.orpha.net 90321 Cockayne syndrome type 1 http://www.orpha.net 90322 Cockayne syndrome type 2 http://www.orpha.net 90324 Cockayne syndrome type 3 http://www.orpha.net 95428 COG8-CDG http://www.orpha.net 98980 Cogan-Reese syndrome http://www.orpha.net 98942 Coloboma of choroid and retina http://www.orpha.net 98943 Coloboma of eye lens http://www.orpha.net 98946 Coloboma of eyelid http://www.orpha.net 98944 Coloboma of iris http://www.orpha.net 98945 Coloboma of macula http://www.orpha.net 98947 Coloboma of optic disc http://www.orpha.net 98938 Colobomatous microphthalmia http://www.orpha.net 911 Combined immunodeficiency due to ZAP70 deficiency http://www.orpha.net 95494 Combined pituitary hormone deficiencies, genetic forms http://www.orpha.net 98864 Common hereditary elliptocytosis http://www.orpha.net 99429 Complete androgen insensitivity syndrome http://www.orpha.net 99067 Complete atrioventricular septal defect with ventricular hypoplasia http://www.orpha.net 99068 Complete atrioventricular septal defect-tetralogy of Fallot http://www.orpha.net 98949 Complete cryptophthalmia http://www.orpha.net 99995 Complex regional pain syndrome type 1 http://www.orpha.net 99994 Complex regional pain syndrome type 2 http://www.orpha.net 90795 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency http://www.orpha.net 90793 Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency http://www.orpha.net 90791 Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency http://www.orpha.net 95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency http://www.orpha.net 95507 Congenital anomaly of hepatic vein http://www.orpha.net 95500 Congenital anomaly of the coronary sinus http://www.orpha.net 99055 Congenital anomaly of the tricuspid valve chordae http://www.orpha.net 95448 Congenital aortic valve atresia http://www.orpha.net 93177 Congenital bilateral megacalycosis http://www.orpha.net 99129 Congenital complete agenesis of pericardium http://www.orpha.net 95491 Congenital coronary artery aneurysm http://www.orpha.net 98869 Congenital dyserythropoietic anemia type I http://www.orpha.net 98873 Congenital dyserythropoietic anemia type II http://www.orpha.net 98870 Congenital dyserythropoietic anemia type III http://www.orpha.net 91491 Congenital ectropion uveae http://www.orpha.net 91358 Congenital esophageal diverticulum http://www.orpha.net 99176 Congenital eyelid retraction http://www.orpha.net 99095 Congenital Gerbode defect http://www.orpha.net 98976 Congenital glaucoma http://www.orpha.net 98975 Congenital hereditary endothelial dystrophy type I http://www.orpha.net 91413 Congenital Horner syndrome http://www.orpha.net 95711 Congenital hypothyroidism due to developmental anomaly http://www.orpha.net 95715 Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies http://www.orpha.net 93109 Congenital megacalycosis http://www.orpha.net 99057 Congenital mitral stenosis http://www.orpha.net 98905 Congenital multicore myopathy with external ophthalmoplegia http://www.orpha.net 98893 Congenital muscular dystrophy type 1B http://www.orpha.net 98904 Congenital myopathy with excess of thin filaments http://www.orpha.net 99130 Congenital partial agenesis of pericardium http://www.orpha.net 99124 Congenital partial pulmonary venous return anomaly http://www.orpha.net 99072 Congenital patent ductus arteriosus aneurysm http://www.orpha.net 91411 Congenital ptosis http://www.orpha.net 99126 Congenital pulmonary vein atresia http://www.orpha.net 97598 Congenital renal artery stenosis http://www.orpha.net 93400 Congenital sialidosis type 2 http://www.orpha.net 99122 Congenital stenosis of the inferior vena cava http://www.orpha.net 99059 Congenital supravalvular mitral ring http://www.orpha.net 98948 Congenital symblepharon http://www.orpha.net 93583 Congenital thrombotic thrombocytopenic purpura http://www.orpha.net 95718 Congenital thyroid malformation without hypothyroidism http://www.orpha.net 99125 Congenital total pulmonary venous return anomaly http://www.orpha.net 95430 Congenital tracheomalacia http://www.orpha.net 95459 Congenital tricuspid stenosis http://www.orpha.net 98686 Congenital trochlear nerve palsy http://www.orpha.net 92050 Congenital tufting enteropathy http://www.orpha.net 99060 Congenital unguarded mitral orifice http://www.orpha.net 99042 Congenitally uncorrected transposition of the great arteries with coarctation http://www.orpha.net 99098 Cor triatriatum dexter http://www.orpha.net 99099 Cor triatriatum sinister http://www.orpha.net 98990 Coralliform cataract http://www.orpha.net 98635 Corneodysgenesis http://www.orpha.net 99087 Coronary ostial stenosis or atresia http://www.orpha.net 99118 Coronary sinus atresia http://www.orpha.net 99117 Coronary sinus stenosis http://www.orpha.net 93943 Corpus callosum dysgenesis-hypopituitarism syndrome http://www.orpha.net 99854 Cree leukoencephalopathy http://www.orpha.net 90290 CREST syndrome http://www.orpha.net 99827 Crimean-Congo hemorrhagic fever http://www.orpha.net 93262 Crouzon syndrome-acanthosis nigricans syndrome http://www.orpha.net 91138 Cryoglobulinemic vasculitis http://www.orpha.net 96253 Cushing disease http://www.orpha.net 99889 Cushing syndrome due to ectopic ACTH secretion http://www.orpha.net 93612 Cystinuria type A http://www.orpha.net 93613 Cystinuria type B http://www.orpha.net 94087 Cytophagic histiocytic panniculitis http://www.orpha.net 941 D-glyceric aciduria http://www.orpha.net 99645 Dappled diaphyseal dysplasia http://www.orpha.net 90646 Deafness-hypogonadism syndrome http://www.orpha.net 94064 Deafness-infertility syndrome http://www.orpha.net 99970 Dedifferentiated liposarcoma http://www.orpha.net 97353 Dementia pugilistica http://www.orpha.net 99828 Dengue fever http://www.orpha.net 93571 Dense deposit disease http://www.orpha.net 93622 Dent disease type 1 http://www.orpha.net 93623 Dent disease type 2 http://www.orpha.net 99789 Dentin dysplasia type I http://www.orpha.net 99791 Dentin dysplasia type II http://www.orpha.net 99792 Dentin dysplasia-sclerotic bones syndrome http://www.orpha.net 99688 Dermotrichic syndrome http://www.orpha.net 98852 Desquamative interstitial pneumonia http://www.orpha.net 90281 Discoid lupus erythematosus http://www.orpha.net 99052 Discrete fibromuscular subaortic stenosis http://www.orpha.net 99051 Discrete fixed membranous subaortic stenosis http://www.orpha.net 90394 Discrete papular lichen myxedematosus http://www.orpha.net 96148 Distal deletion 10q syndrome http://www.orpha.net 96149 Distal deletion 12q syndrome http://www.orpha.net 96150 Distal deletion 14q syndrome http://www.orpha.net 96129 Distal deletion 19p syndrome http://www.orpha.net 96145 Distal deletion 4q syndrome http://www.orpha.net 96125 Distal deletion 6p syndrome http://www.orpha.net 96126 Distal deletion 7p syndrome http://www.orpha.net 96102 Distal duplication 10q syndrome http://www.orpha.net 96103 Distal duplication 11q syndrome http://www.orpha.net 96105 Distal duplication 13q syndrome http://www.orpha.net 96106 Distal duplication 16q syndrome http://www.orpha.net 96069 Distal duplication 1p36 syndrome http://www.orpha.net 96107 Distal duplication 20q syndrome http://www.orpha.net 96109 Distal duplication 22q syndrome http://www.orpha.net 96070 Distal duplication 2p syndrome http://www.orpha.net 96094 Distal duplication 2q syndrome http://www.orpha.net 96071 Distal duplication 3p syndrome http://www.orpha.net 96096 Distal duplication 4q syndrome http://www.orpha.net 96097 Distal duplication 5q syndrome http://www.orpha.net 96098 Distal duplication 6q syndrome http://www.orpha.net 96074 Distal duplication 7p syndrome http://www.orpha.net 96100 Distal duplication 8q syndrome http://www.orpha.net 96101 Distal duplication 9q syndrome http://www.orpha.net 93610 Distal renal tubular acidosis with anemia http://www.orpha.net 91131 DK1-CDG http://www.orpha.net 99047 Double outlet right ventricle with doubly committed ventricular septal defect http://www.orpha.net 99046 Double outlet right ventricle with non-committed subpulmonary ventricular septal defect http://www.orpha.net 99043 Double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis http://www.orpha.net 99044 Double outlet right ventricle with subaortic ventricular septal defect http://www.orpha.net 99045 Double outlet right ventricle with subpulmonary ventricular septal defect http://www.orpha.net 95474 Double-orifice mitral valve http://www.orpha.net 90157 Drug-induced localized lipodystrophy http://www.orpha.net 97368 Drug-related renal tubular dysgenesis http://www.orpha.net 98896 Duchenne muscular dystrophy http://www.orpha.net 97339 Dural sinus malformation http://www.orpha.net 99082 Dysphagia lusoria http://www.orpha.net 98988 Early-onset anterior polar cataract http://www.orpha.net 98991 Early-onset nuclear cataract http://www.orpha.net 99704 Early-onset obesity-hyperphagia-severe developmental delay syndrome http://www.orpha.net 98993 Early-onset posterior polar cataract http://www.orpha.net 90341 Early-onset sarcoidosis http://www.orpha.net 98985 Early-onset sutural cataract http://www.orpha.net 98890 Early-onset X-linked optic atrophy http://www.orpha.net 99102 Ectasia of the left atrial appendage http://www.orpha.net 99101 Ectasia of the right atrial appendage http://www.orpha.net 97214 Eisenmenger syndrome http://www.orpha.net 96170 Emanuel syndrome http://www.orpha.net 99757 Embryonal rhabdomyosarcoma http://www.orpha.net 99075 Encircling double aortic arch http://www.orpha.net 99169 Epiblepharon http://www.orpha.net 98956 Epithelial basement membrane dystrophy http://www.orpha.net 999 Ermine phenotype http://www.orpha.net 98981 Essential iris atrophy http://www.orpha.net 99172 Euryblepharon http://www.orpha.net 95700 Familial adrenal hypoplasia with absent pituitary luteinizing hormone http://www.orpha.net 98880 Familial afibrinogenemia http://www.orpha.net 91498 Familial congenital palsy of trochlear nerve http://www.orpha.net 98881 Familial dysfibrinogenemia http://www.orpha.net 98820 Familial focal epilepsy with variable foci http://www.orpha.net 99819 Familial gestational hyperthyroidism http://www.orpha.net 93372 Familial hypocalciuric hypercalcemia type 1 http://www.orpha.net 99879 Familial isolated hyperparathyroidism http://www.orpha.net 922 Familial nasal acilia http://www.orpha.net 97290 Familial papillary thyroid carcinoma with renal papillary neoplasia http://www.orpha.net 97 Familial paroxysmal ataxia http://www.orpha.net 99810 Familial porencephaly http://www.orpha.net 98819 Familial temporal lobe epilepsy http://www.orpha.net 93953 Familial thyroglossal duct cyst http://www.orpha.net 95716 Familial thyroid dyshormonogenesis http://www.orpha.net 994 Fetal akinesia deformation sequence http://www.orpha.net 93932 FG syndrome type 1 http://www.orpha.net 97232 Fingerprint body myopathy http://www.orpha.net 98970 Fleck corneal dystrophy http://www.orpha.net 93256 Fragile X-associated tremor/ataxia syndrome http://www.orpha.net 99672 Fried's tooth and nail syndrome http://www.orpha.net 95 Friedreich ataxia http://www.orpha.net 98974 Fuchs endothelial corneal dystrophy http://www.orpha.net 93921 Full schwannomatosis http://www.orpha.net 91348 Functioning gonadotropic adenoma http://www.orpha.net 99004 Fundus pulverulentus http://www.orpha.net 97295 Furlong syndrome http://www.orpha.net 98957 Gelatinous drop-like corneal dystrophy http://www.orpha.net 99845 Genetic recurrent myoglobinuria http://www.orpha.net 93398 Genochondromatosis type 2 http://www.orpha.net 91352 Germinoma of the central nervous system http://www.orpha.net 99926 Gestational choriocarcinoma http://www.orpha.net 97280 Glucagonoma http://www.orpha.net 99849 Glycogen storage disease due to muscle beta-enolase deficiency http://www.orpha.net 97234 Glycogen storage disease due to phosphoglycerate mutase deficiency http://www.orpha.net 98962 Granular corneal dystrophy type I http://www.orpha.net 98963 Granular corneal dystrophy type II http://www.orpha.net 97261 GRFoma http://www.orpha.net 99914 Gynandroblastoma http://www.orpha.net 99803 Haddad syndrome http://www.orpha.net 93946 Hamel cerebro-palato-cardiac syndrome http://www.orpha.net 93556 Heavy chain deposition disease http://www.orpha.net 99932 Heiner syndrome http://www.orpha.net 99802 Hemimegalencephaly http://www.orpha.net 93616 Hemoglobin H disease http://www.orpha.net 99138 Hemolytic anemia due to erythrocyte adenosine deaminase overproduction http://www.orpha.net 95159 Hepatoerythropoietic porphyria http://www.orpha.net 98434 Hereditary combined deficiency of vitamin K-dependent clotting factors http://www.orpha.net 972 Hereditary continuous muscle fiber activity http://www.orpha.net 90120 Hereditary motor and sensory neuropathy type 6 http://www.orpha.net 90119 Hereditary motor and sensory neuropathy with acrodystrophy http://www.orpha.net 90117 Hereditary motor and sensory neuropathy, Okinawa type http://www.orpha.net 98867 Hereditary pyropoikilocytosis http://www.orpha.net 94088 Hereditary renal hypouricemia http://www.orpha.net 970 Hereditary sensory and autonomic neuropathy type 2 http://www.orpha.net 93111 HNF1B-related autosomal dominant tubulointerstitial kidney disease http://www.orpha.net 93970 Holmes-Gang syndrome http://www.orpha.net 98865 Homozygous hereditary elliptocytosis http://www.orpha.net 97340 Hunter-McAlpine syndrome http://www.orpha.net 98934 Huntington disease-like 2 http://www.orpha.net 93473 Hurler syndrome http://www.orpha.net 93476 Hurler-Scheie syndrome http://www.orpha.net 927 Hyperammonemia due to N-acetylglutamate synthase deficiency http://www.orpha.net 99880 Hyperparathyroidism-jaw tumor syndrome http://www.orpha.net 966 Hypertrichosis-acromegaloid facial appearance syndrome http://www.orpha.net 90282 Hypertrophic or verrucous lupus erythematosus http://www.orpha.net 93160 Hypocalcemic vitamin D-resistant rickets http://www.orpha.net 93297 Hypochondrogenesis http://www.orpha.net 989 Hypoglossia-hypodactyly syndrome http://www.orpha.net 99058 Hypoplasia of the mitral valve annulus http://www.orpha.net 90673 Hypothyroidism due to TSH receptor mutations http://www.orpha.net 90368 Hypotrichosis simplex of the scalp http://www.orpha.net 91132 Ichthyosis-hypotrichosis syndrome http://www.orpha.net 930 Idiopathic achalasia http://www.orpha.net 95717 Idiopathic congenital hypothyroidism http://www.orpha.net 95707 Idiopathic isolated micropenis http://www.orpha.net 90158 Idiopathic localized lipodystrophy http://www.orpha.net 99931 Idiopathic pulmonary hemosiderosis http://www.orpha.net 99858 Idiopathic syringomyelia http://www.orpha.net 93585 Immune-mediated thrombotic thrombocytopenic purpura http://www.orpha.net 97567 Immunotactoid glomerulopathy http://www.orpha.net 91137 Immunotactoid or fibrillary glomerulopathy http://www.orpha.net 98848 Indolent systemic mastocytosis http://www.orpha.net 93591 Infantile nephronophthisis http://www.orpha.net 99123 Inferior vena cava interruption without azygos continuation http://www.orpha.net 97279 Insulinoma http://www.orpha.net 99989 Intermediate DEND syndrome http://www.orpha.net 981 Internal carotid absence http://www.orpha.net 99092 Interventricular septum aneurysm http://www.orpha.net 98839 Intravascular large B-cell lymphoma http://www.orpha.net 99925 Invasive mole http://www.orpha.net 98951 Inverse Marcus-Gunn phenomenon http://www.orpha.net 96325 Isochromosome Y syndrome http://www.orpha.net 98797 Isochromosomy Yp syndrome http://www.orpha.net 98798 Isochromosomy Yq syndrome http://www.orpha.net 973 Isolated absence/hypoplasia of fingers excluding thumb, unilateral http://www.orpha.net 931 Isolated acheiropodia http://www.orpha.net 91397 Isolated ankyloblepharon filiforme adnatum http://www.orpha.net 91416 Isolated congenital alacrima http://www.orpha.net 99171 Isolated congenital ectropion http://www.orpha.net 91489 Isolated congenital megalocornea http://www.orpha.net 91490 Isolated congenital sclerocornea http://www.orpha.net 91396 Isolated cryptophthalmia http://www.orpha.net 99177 Isolated distichiasis http://www.orpha.net 93928 Isolated epispadias http://www.orpha.net 99361 Isolated familial medullary thyroid carcinoma http://www.orpha.net 96269 Isolated partial vaginal agenesis http://www.orpha.net 99885 Isolated permanent neonatal diabetes mellitus http://www.orpha.net 99731 Isolated sulfite oxidase deficiency http://www.orpha.net 90674 Isolated thyroid-stimulating hormone deficiency http://www.orpha.net 90647 Jervell and Lange-Nielsen syndrome http://www.orpha.net 93972 Juberg-Marsidi syndrome http://www.orpha.net 93672 Juvenile dermatomyositis http://www.orpha.net 98977 Juvenile glaucoma http://www.orpha.net 93592 Juvenile nephronophthisis http://www.orpha.net 93568 Juvenile polymyositis http://www.orpha.net 93399 Juvenile sialidosis type 2 http://www.orpha.net 99100 Juxtaposition of the atrial appendages http://www.orpha.net 96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 http://www.orpha.net 99179 Kandori fleck retina http://www.orpha.net 97332 Kienbock disease http://www.orpha.net 99741 King-Denborough syndrome http://www.orpha.net 96147 Kleefstra syndrome due to 9q34 microdeletion http://www.orpha.net 99077 Kommerell diverticulum http://www.orpha.net 99749 Kostmann syndrome http://www.orpha.net 98818 Landau-Kleffner syndrome http://www.orpha.net 93938 Laryngotracheoesophageal cleft type 1 http://www.orpha.net 93939 Laryngotracheoesophageal cleft type 2 http://www.orpha.net 93940 Laryngotracheoesophageal cleft type 3 http://www.orpha.net 93941 Laryngotracheoesophageal cleft type 4 http://www.orpha.net 99824 Lassa fever http://www.orpha.net 98912 Late-onset distal myopathy, Markesbery-Griggs type http://www.orpha.net 93589 Late-onset nephronophthisis http://www.orpha.net 98964 Lattice corneal dystrophy type I http://www.orpha.net 99094 Laubry-Pezzi syndrome http://www.orpha.net 99718 Leber plus disease http://www.orpha.net 99842 Leukocyte adhesion deficiency type I http://www.orpha.net 99843 Leukocyte adhesion deficiency type II http://www.orpha.net 99844 Leukocyte adhesion deficiency type III http://www.orpha.net 95854 Levocardia http://www.orpha.net 96265 Leydig cell hypoplasia due to complete LH resistance http://www.orpha.net 96266 Leydig cell hypoplasia due to partial LH resistance http://www.orpha.net 99812 LIG4 syndrome http://www.orpha.net 93557 Light and heavy chain deposition disease http://www.orpha.net 93558 Light chain deposition disease http://www.orpha.net 97231 Ligneous conjunctivitis http://www.orpha.net 98955 Lisch epithelial corneal dystrophy http://www.orpha.net 95232 Lissencephaly due to LIS1 mutation http://www.orpha.net 93924 Lobar holoprosencephaly http://www.orpha.net 90398 Localized lichen myxedematosus with mixed features of different subtypes http://www.orpha.net 90399 Localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms http://www.orpha.net 90289 Localized scleroderma http://www.orpha.net 99900 Long chain acyl-CoA dehydrogenase deficiency http://www.orpha.net 90285 Lupus erythematosus panniculitis http://www.orpha.net 90283 Lupus erythematosus tumidus http://www.orpha.net 91546 Lyme disease http://www.orpha.net 99141 Lymphedema-posterior choanal atresia syndrome http://www.orpha.net 98842 Lymphomatoid papulosis http://www.orpha.net 98291 Lymphoproliferative disease associated with primary immune disease http://www.orpha.net 91494 Macular coloboma-cleft palate-hallux valgus syndrome http://www.orpha.net 98969 Macular corneal dystrophy http://www.orpha.net 99915 Malignant granulosa cell tumor of the ovary http://www.orpha.net 99916 Malignant Sertoli-Leydig cell tumor of the ovary http://www.orpha.net 943 Malonic aciduria http://www.orpha.net 99090 Malposition of a coronary ostium http://www.orpha.net 90153 Mandibuloacral dysplasia with type A lipodystrophy http://www.orpha.net 90154 Mandibuloacral dysplasia with type B lipodystrophy http://www.orpha.net 99826 Marburg hemorrhagic fever http://www.orpha.net 90338 Margarita island ectodermal dysplasia http://www.orpha.net 99715 MASS syndrome http://www.orpha.net 97678 Maternal uniparental disomy of chromosome 13 syndrome http://www.orpha.net 96185 Maternal uniparental disomy of chromosome 16 syndrome http://www.orpha.net 96179 Maternal uniparental disomy of chromosome 2 syndrome http://www.orpha.net 96186 Maternal uniparental disomy of chromosome 20 syndrome http://www.orpha.net 96187 Maternal uniparental disomy of chromosome 21 syndrome http://www.orpha.net 96188 Maternal uniparental disomy of chromosome 22 syndrome http://www.orpha.net 96180 Maternal uniparental disomy of chromosome 4 syndrome http://www.orpha.net 96181 Maternal uniparental disomy of chromosome 6 syndrome http://www.orpha.net 96183 Maternal uniparental disomy of chromosome 9 syndrome http://www.orpha.net 98954 Meesmann corneal dystrophy http://www.orpha.net 97252 Mega-cisterna magna http://www.orpha.net 97338 Melanoma of soft tissue http://www.orpha.net 99898 Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency http://www.orpha.net 99701 Mesial temporal lobe epilepsy with hippocampal sclerosis http://www.orpha.net 95443 Mesocardia http://www.orpha.net 99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria http://www.orpha.net 99142 Microcephaly-cutis verticis gyrata-lymphedema syndrome http://www.orpha.net 93926 Midline interhemispheric variant of holoprosencephaly http://www.orpha.net 93279 Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis http://www.orpha.net 98919 Miller Fisher syndrome http://www.orpha.net 94091 Mills syndrome http://www.orpha.net 99062 Mitral valve agenesis http://www.orpha.net 93554 Mixed cryoglobulinemia type II http://www.orpha.net 93555 Mixed cryoglobulinemia type III http://www.orpha.net 96168 Monosomy 13q34 syndrome http://www.orpha.net 96123 Monosomy 22 syndrome http://www.orpha.net 99226 Monosomy X syndrome http://www.orpha.net 93277 Monostotic fibrous dysplasia http://www.orpha.net 99228 Mosaic monosomy X syndrome http://www.orpha.net 96063 Mosaic trisomy 10 syndrome http://www.orpha.net 96068 Mosaic trisomy 22 syndrome http://www.orpha.net 96059 Mosaic trisomy 4 syndrome http://www.orpha.net 96060 Mosaic trisomy 5 syndrome http://www.orpha.net 96061 Mosaic trisomy 8 syndrome http://www.orpha.net 99776 Mosaic trisomy 9 syndrome http://www.orpha.net 99003 Multifocal pattern dystrophy simulating fundus flavimaculatus http://www.orpha.net 97366 Multiloculated renal cyst http://www.orpha.net 93308 Multiple epiphyseal dysplasia type 1 http://www.orpha.net 93307 Multiple epiphyseal dysplasia type 4 http://www.orpha.net 93311 Multiple epiphyseal dysplasia type 5 http://www.orpha.net 98933 Multiple system atrophy, parkinsonian type http://www.orpha.net 98826 Myelodysplastic neoplasm with low blasts http://www.orpha.net 99734 Myotonia fluctuans http://www.orpha.net 99735 Myotonia permanens http://www.orpha.net 99967 Myxoid/round cell liposarcoma http://www.orpha.net 94058 Neovascular glaucoma http://www.orpha.net 93606 Nephrogenic syndrome of inappropriate antidiuresis http://www.orpha.net 99078 Neuhauser anomaly http://www.orpha.net 94093 Neuroleptic malignant syndrome http://www.orpha.net 98748 Neurological channelopathy of the central nervous system due to a genetic acetylcholine receptor defect http://www.orpha.net 99811 Neuronal intestinal pseudoobstruction http://www.orpha.net 98907 Neutral lipid storage disease with ichthyosis http://www.orpha.net 98908 Neutral lipid storage disease with myopathy http://www.orpha.net 99825 Nipah virus disease http://www.orpha.net 90393 Nodular lichen myxedematosus http://www.orpha.net 90695 Non-acquired panhypopituitarism http://www.orpha.net 97566 Non-amyloid fibrillary glomerulopathy http://www.orpha.net 96160 Non-distal deletion 12q syndrome http://www.orpha.net 96112 Non-distal duplication 9q syndrome http://www.orpha.net 90185 Non-hereditary late-onset primary lymphedema http://www.orpha.net 99817 Non-polyposis Turcot syndrome http://www.orpha.net 91364 Non-specific interstitial pneumonia http://www.orpha.net 99965 O'Sullivan-McLeod syndrome http://www.orpha.net 953 OBSOLETE: Acromesomelic dysplasia, Brahimi-Bacha type http://www.orpha.net 93668 OBSOLETE: Adult chronic recurrent multifocal osteomyelitis http://www.orpha.net 99874 OBSOLETE: Adult pulmonary Langerhans cell histiocytosis http://www.orpha.net 95484 OBSOLETE: Aneurysm or dilatation of ascending aorta http://www.orpha.net 99987 OBSOLETE: Anophthalmia-esophageal-genital syndrome syndrome http://www.orpha.net 93604 OBSOLETE: Antenatal Bartter syndrome http://www.orpha.net 98730 OBSOLETE: Atrioventricular discordance http://www.orpha.net 93578 OBSOLETE: Atypical hemolytic uremic syndrome with B factor anomaly http://www.orpha.net 93575 OBSOLETE: Atypical hemolytic uremic syndrome with C3 anomaly http://www.orpha.net 93579 OBSOLETE: Atypical hemolytic uremic syndrome with H factor anomaly http://www.orpha.net 93580 OBSOLETE: Atypical hemolytic uremic syndrome with I factor anomaly http://www.orpha.net 93576 OBSOLETE: Atypical hemolytic uremic syndrome with MCP/CD46 anomaly http://www.orpha.net 99012 OBSOLETE: Autosomal recessive optic atrophy, OPA6 type http://www.orpha.net 98987 OBSOLETE: Cataract, Hutterite type http://www.orpha.net 98125 OBSOLETE: Channelopathy due to a neuronal acetylcholine receptor defect http://www.orpha.net 98122 OBSOLETE: Channelopathy due to a neuronal glycine receptor defect http://www.orpha.net 98123 OBSOLETE: Channelopathy due to a neuronal kidney GABA receptor defect http://www.orpha.net 98124 OBSOLETE: Channelopathy due to a skeletal muscle acetylcholine receptor defect http://www.orpha.net 93365 OBSOLETE: CINCA syndrome with NLRP3 mutations http://www.orpha.net 93367 OBSOLETE: CINCA syndrome without NLRP3 mutations http://www.orpha.net 99864 OBSOLETE: Classic seminoma http://www.orpha.net 99066 OBSOLETE: Complete atrioventricular canal-left heart obstruction syndrome http://www.orpha.net 98983 OBSOLETE: Congenital cataract, Volkmann type http://www.orpha.net 95501 OBSOLETE: Congenital central diabetes insipidus http://www.orpha.net 98986 OBSOLETE: Coppock-like cataract http://www.orpha.net 98667 OBSOLETE: Disease predisposing to age-related macular degeneration http://www.orpha.net 96152 OBSOLETE: Distal monosomy 20q http://www.orpha.net 96369 OBSOLETE: Early-onset schizophrenia http://www.orpha.net 90309 OBSOLETE: Ehlers-Danlos syndrome type 1 http://www.orpha.net 90318 OBSOLETE: Ehlers-Danlos syndrome type 2 http://www.orpha.net 99875 OBSOLETE: Ehlers-Danlos syndrome type 7A http://www.orpha.net 99876 OBSOLETE: Ehlers-Danlos syndrome type 7B http://www.orpha.net 99871 OBSOLETE: Eosinophilic granuloma http://www.orpha.net 99781 OBSOLETE: Familial articular chondrocalcinosis type 1 http://www.orpha.net 99782 OBSOLETE: Familial articular chondrocalcinosis type 2 http://www.orpha.net 99723 OBSOLETE: Familial esophageal achalasia http://www.orpha.net 99763 OBSOLETE: Familial hyperreninemic hypoaldosteronism type 1 http://www.orpha.net 99764 OBSOLETE: Familial hyperreninemic hypoaldosteronism type 2 http://www.orpha.net 93214 OBSOLETE: Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation http://www.orpha.net 93217 OBSOLETE: Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis http://www.orpha.net 93213 OBSOLETE: Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis http://www.orpha.net 93216 OBSOLETE: Familial idiopathic steroid-resistant nephrotic syndrome with minimal changes http://www.orpha.net 99877 OBSOLETE: Familial parathyroid adenoma http://www.orpha.net 99985 OBSOLETE: Familial restrictive cardiomyopathy type 1 http://www.orpha.net 99986 OBSOLETE: Familial restrictive cardiomyopathy type 2 http://www.orpha.net 99906 OBSOLETE: Farmer's lung disease http://www.orpha.net 99654 OBSOLETE: Fibrocalculous pancreatopathy http://www.orpha.net 99649 OBSOLETE: Generalized epilepsy and praxis-induced seizures http://www.orpha.net 91128 OBSOLETE: Graft rejection after lung transplantation http://www.orpha.net 99873 OBSOLETE: Hand-Schüller-Christian disease http://www.orpha.net 99872 OBSOLETE: Hashimoto-Pritzker syndrome http://www.orpha.net 99907 OBSOLETE: House allergic alveolitis http://www.orpha.net 93209 OBSOLETE: Idiopathic steroid-sensitive nephrotic syndrome with diffuse mesangial proliferation http://www.orpha.net 93206 OBSOLETE: Idiopathic steroid-sensitive nephrotic syndrome with focal segmental hyalinosis http://www.orpha.net 93207 OBSOLETE: Idiopathic steroid-sensitive nephrotic syndrome with minimal change http://www.orpha.net 99870 OBSOLETE: Letterer-Siwe disease http://www.orpha.net 98311 OBSOLETE: Male infertility with impaired virilization due to a hypothalamic and pituitary disorder associated with hyperprolactinemia http://www.orpha.net 99866 OBSOLETE: Metastatic spermatocytic seminoma http://www.orpha.net 93427 OBSOLETE: Metatropic dysplasias http://www.orpha.net 93686 OBSOLETE: Multicentric Castleman disease http://www.orpha.net 97668 OBSOLETE: Neonatal membranous glomerulopathy with maternal NEP deficiency http://www.orpha.net 99022 OBSOLETE: Niemann-Pick disease type E http://www.orpha.net 96164 OBSOLETE: Non-distal monosomy 20q http://www.orpha.net 93688 OBSOLETE: Non-idiopathic juvenile arthritis http://www.orpha.net 98120 OBSOLETE: Non-pore-loop channelopathy due to Cl- channel barttin anomaly http://www.orpha.net 98115 OBSOLETE: Non-pore-loop channelopathy due to Cl- channel skeletal muscle Clc1 anomaly http://www.orpha.net 98119 OBSOLETE: Non-pore-loop channelopathy due to Cl- channels kidney CLCKA and CLCKB anomaly http://www.orpha.net 98117 OBSOLETE: Non-pore-loop channelopathy due to Cl- transporter kidney Clc5 anomaly http://www.orpha.net 98114 OBSOLETE: Non-pore-loop channelopathy due to epithelial Cl- channel bestrophin anomaly http://www.orpha.net 98113 OBSOLETE: Non-pore-loop channelopathy due to epithelial Cl- channel CFTR anomaly http://www.orpha.net 99909 OBSOLETE: Occupational allergic alveolitis http://www.orpha.net 98704 OBSOLETE: Onycho-patellar syndrome with eye involvement http://www.orpha.net 91133 OBSOLETE: Osteopenia-myopia-hearing loss-intellectual disability-facial dysmorphism syndrome http://www.orpha.net 93178 OBSOLETE: Partial prune belly syndrome http://www.orpha.net 93682 OBSOLETE: Pediatric Castleman disease http://www.orpha.net 93564 OBSOLETE: Pediatric polyarteritis nodosa http://www.orpha.net 93566 OBSOLETE: Pediatric Sjögren syndrome http://www.orpha.net 93567 OBSOLETE: Pediatric systemic sclerosis http://www.orpha.net 97927 OBSOLETE: Peripheral resistance to thyroid hormones http://www.orpha.net 99908 OBSOLETE: Pigeon-breeder lung disease http://www.orpha.net 95621 OBSOLETE: Postsurgical hypopituitarism http://www.orpha.net 95625 OBSOLETE: Posttraumatic diabetes insipidus http://www.orpha.net 95623 OBSOLETE: Posttraumatic hypopituitarism http://www.orpha.net 99859 OBSOLETE: Posttraumatic syringomyelia http://www.orpha.net 99878 OBSOLETE: Primary parathyroid hyperplasia http://www.orpha.net 93975 OBSOLETE: Renier-Gabreels-Jasper syndrome http://www.orpha.net 91365 OBSOLETE: Secondary ciliary dyskinesia http://www.orpha.net 98932 OBSOLETE: Shy-Drager syndrome http://www.orpha.net 98866 OBSOLETE: Spherocytic elliptocytosis http://www.orpha.net 93359 OBSOLETE: Spondyloepimetaphyseal dysplasia with joint laxity http://www.orpha.net 99722 OBSOLETE: Sporadic achalasia http://www.orpha.net 97555 OBSOLETE: Sporadic idiopathic steroid-resistant nephrotic syndrome with collapsing glomerulopathy http://www.orpha.net 93222 OBSOLETE: Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation http://www.orpha.net 93220 OBSOLETE: Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis http://www.orpha.net 93218 OBSOLETE: Sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis http://www.orpha.net 93221 OBSOLETE: Sporadic idiopathic steroid-resistant nephrotic syndrome with minimal changes http://www.orpha.net 99664 OBSOLETE: Trochlear nerve palsy http://www.orpha.net 99069 OBSOLETE: Univentricular heart with single atrio-ventricular valve http://www.orpha.net 99663 OBSOLETE: Vestibular torticollis http://www.orpha.net 98941 OBSOLETE: Von Hippel anomaly http://www.orpha.net 99922 Ocular cicatricial pemphigoid http://www.orpha.net 99806 Oculootodental syndrome http://www.orpha.net 98897 Oculopharyngodistal myopathy http://www.orpha.net 99798 Oligodontia http://www.orpha.net 90649 Orofaciodigital syndrome type 7 http://www.orpha.net 93958 Oromandibular dystonia http://www.orpha.net 97335 Osgood-Schlatter disease http://www.orpha.net 90650 Otopalatodigital syndrome type 1 http://www.orpha.net 90652 Otopalatodigital syndrome type 2 http://www.orpha.net 99912 Ovarian dysgerminoma http://www.orpha.net 99853 Ovarioleukodystrophy http://www.orpha.net 991 PAGOD syndrome http://www.orpha.net 95513 Panhypophysitis http://www.orpha.net 97336 Panner disease http://www.orpha.net 90159 Panniculitis-induced localized lipodystrophy http://www.orpha.net 90395 Papular mucinosis of infancy http://www.orpha.net 99056 Parachute tricuspid valve http://www.orpha.net 90307 Parkes Weber syndrome http://www.orpha.net 98811 Paroxysmal exertion-induced dyskinesia http://www.orpha.net 98812 Paroxysmal hypnogenic dyskinesia http://www.orpha.net 98809 Paroxysmal kinesigenic dyskinesia http://www.orpha.net 98810 Paroxysmal non-kinesigenic dyskinesia http://www.orpha.net 90797 Partial androgen insensitivity syndrome http://www.orpha.net 98950 Partial cryptophthalmia http://www.orpha.net 94083 Partington syndrome http://www.orpha.net 99324 Paternal uniparental disomy of chromosome 13 syndrome http://www.orpha.net 96194 Paternal uniparental disomy of chromosome 20 syndrome http://www.orpha.net 96195 Paternal uniparental disomy of chromosome 21 syndrome http://www.orpha.net 96190 Paternal uniparental disomy of chromosome 5 syndrome http://www.orpha.net 96191 Paternal uniparental disomy of chromosome 6 syndrome http://www.orpha.net 96192 Paternal uniparental disomy of chromosome 7 syndrome http://www.orpha.net 93126 Pauci-immune glomerulonephritis http://www.orpha.net 97563 Pauci-immune glomerulonephritis with ANCA http://www.orpha.net 97564 Pauci-immune glomerulonephritis without ANCA http://www.orpha.net 93552 Pediatric systemic lupus erythematosus http://www.orpha.net 99807 PEHO-like syndrome http://www.orpha.net 97352 Pellagra http://www.orpha.net 93333 Pelviscapular dysplasia http://www.orpha.net 99978 Perihilar cholangiocarcinoma http://www.orpha.net 99084 Peripheral pulmonary stenosis http://www.orpha.net 98892 Periventricular nodular heterotopia http://www.orpha.net 99120 Persistent eustachian valve http://www.orpha.net 99076 Persistent fifth aortic arch http://www.orpha.net 99109 Persistent left superior vena cava connecting through coronary sinus to left-sided atrium http://www.orpha.net 99111 Persistent left superior vena cava connecting to the roof of left-sided atrium http://www.orpha.net 97341 Persistent placoid maculopathy http://www.orpha.net 93258 Pfeiffer syndrome type 1 http://www.orpha.net 93259 Pfeiffer syndrome type 2 http://www.orpha.net 93260 Pfeiffer syndrome type 3 http://www.orpha.net 91414 Pilomatrixoma http://www.orpha.net 98788 Pitt-Rogers-Danks syndrome http://www.orpha.net 95613 Pituitary apoplexy http://www.orpha.net 91354 Pituitary deficiency due to empty sella turcica syndrome http://www.orpha.net 91350 Pituitary deficiency due to Rathke cleft cysts http://www.orpha.net 91351 Pituitary dermoid and epidermoid cysts http://www.orpha.net 99725 Pituitary gigantism http://www.orpha.net 95611 Pituitary hormone deficiency of vascular origin http://www.orpha.net 95496 Pituitary stalk interruption syndrome http://www.orpha.net 99928 Placental site trophoblastic tumor http://www.orpha.net 99969 Pleomorphic liposarcoma http://www.orpha.net 99131 Pleuro-pericardial cyst http://www.orpha.net 99933 Pleuropulmonary blastoma type 1 http://www.orpha.net 99934 Pleuropulmonary blastoma type 2 http://www.orpha.net 99935 Pleuropulmonary blastoma type 3 http://www.orpha.net 93276 Polyostotic fibrous dysplasia http://www.orpha.net 99748 Pontiac fever http://www.orpha.net 97249 Pontocerebellar hypoplasia type 3 http://www.orpha.net 95619 Post-traumatic pituitary deficiency http://www.orpha.net 97349 Postencephalitic parkinsonism http://www.orpha.net 98971 Posterior amorphous corneal dystrophy http://www.orpha.net 98973 Posterior polymorphous corneal dystrophy http://www.orpha.net 93110 Posterior urethral valve http://www.orpha.net 98913 Postsynaptic congenital myasthenic syndromes http://www.orpha.net 97278 PPoma http://www.orpha.net 98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 http://www.orpha.net 99861 Precursor T-cell acute lymphoblastic leukemia http://www.orpha.net 95486 Premature closure of the arterial duct http://www.orpha.net 90160 Pressure-induced localized lipoatrophy http://www.orpha.net 98914 Presynaptic congenital myasthenic syndromes http://www.orpha.net 98872 Primary acquired pure red cell aplasia http://www.orpha.net 98421 Primary acquired red cell aplasia http://www.orpha.net 98861 Primary ciliary dyskinesia, Kartagener type http://www.orpha.net 95714 Primary congenital hypothyroidism without thyroid developmental anomaly http://www.orpha.net 98807 Primary dystonia, DYT13 type http://www.orpha.net 99657 Primary dystonia, DYT2 type http://www.orpha.net 98805 Primary dystonia, DYT4 type http://www.orpha.net 98806 Primary dystonia, DYT6 type http://www.orpha.net 93598 Primary hyperoxaluria type 1 http://www.orpha.net 93599 Primary hyperoxaluria type 2 http://www.orpha.net 93600 Primary hyperoxaluria type 3 http://www.orpha.net 90362 Primary intestinal lymphangiectasia http://www.orpha.net 98838 Primary mediastinal large B-cell lymphoma http://www.orpha.net 97560 Primary membranous glomerulonephritis http://www.orpha.net 94089 Pseudohypoparathyroidism type 1B http://www.orpha.net 94090 Pseudohypoparathyroidism type 2 http://www.orpha.net 984 Pulmonary agenesis http://www.orpha.net 99049 Pulmonary artery coming from patent ductus arteriosus http://www.orpha.net 99083 Pulmonary artery hypoplasia http://www.orpha.net 99048 Pulmonary valve agenesis-intact ventricular septum-persistent ductus arteriosus syndrome http://www.orpha.net 98984 Pulverulent cataract http://www.orpha.net 99710 Punctate acrokeratoderma freckle-like pigmentation http://www.orpha.net 90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA http://www.orpha.net 90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB http://www.orpha.net 98619 Rare isolated myopia http://www.orpha.net 90641 Rare mitochondrial non-syndromic sensorineural deafness http://www.orpha.net 90625 Rare X-linked non-syndromic sensorineural deafness type DFN http://www.orpha.net 99852 Ravine syndrome http://www.orpha.net 94125 Recessive mitochondrial ataxia syndrome http://www.orpha.net 96167 Recombinant 8 syndrome http://www.orpha.net 97239 Reducing body myopathy http://www.orpha.net 98961 Reis-Bücklers corneal dystrophy http://www.orpha.net 99991 Relapsing epidemic typhus http://www.orpha.net 91547 Relapsing fever http://www.orpha.net 93100 Renal agenesis, unilateral http://www.orpha.net 93108 Renal dysplasia http://www.orpha.net 93173 Renal dysplasia, bilateral http://www.orpha.net 93172 Renal dysplasia, unilateral http://www.orpha.net 93101 Renal hypoplasia http://www.orpha.net 97362 Renal hypoplasia, bilateral http://www.orpha.net 97361 Renal hypoplasia, unilateral http://www.orpha.net 97367 Renal tubular dysgenesis due to twin-twin transfusion http://www.orpha.net 97369 Renal tubular dysgenesis of genetic origin http://www.orpha.net 99832 Resistance to thyrotropin-releasing hormone syndrome http://www.orpha.net 99002 Reticular dystrophy of the retinal pigment epithelium http://www.orpha.net 91483 Rieger anomaly http://www.orpha.net 99081 Right aortic arch http://www.orpha.net 99119 Right inferior vena cava connecting to left-sided atrium http://www.orpha.net 97548 Right sided atrial isomerism http://www.orpha.net 99110 Right superior vena cava connecting to left-sided atrium http://www.orpha.net 97244 Rigid spine syndrome http://www.orpha.net 96175 Ring chromosome 11 syndrome http://www.orpha.net 96176 Ring chromosome 13 syndrome http://www.orpha.net 96177 Ring chromosome 15 syndrome http://www.orpha.net 96178 Ring chromosome 16 syndrome http://www.orpha.net 96171 Ring chromosome 2 syndrome http://www.orpha.net 96172 Ring chromosome 3 syndrome http://www.orpha.net 96173 Ring chromosome 9 syndrome http://www.orpha.net 91481 Ring dermoid of cornea http://www.orpha.net 93474 Scheie syndrome http://www.orpha.net 98967 Schnyder corneal dystrophy http://www.orpha.net 90400 Scleromyxedema without monoclonal gammopathy http://www.orpha.net 90363 Secondary intestinal lymphangiectasia http://www.orpha.net 99930 Secondary pulmonary hemosiderosis http://www.orpha.net 95427 Secondary short bowel syndrome http://www.orpha.net 99857 Secondary syringomyelia http://www.orpha.net 90397 Self-healing papular mucinosis http://www.orpha.net 98815 Self-limited epilepsy with autonomic seizures http://www.orpha.net 90118 Severe early-onset axonal neuropathy due to MFN2 deficiency http://www.orpha.net 94066 Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia http://www.orpha.net 91355 Sheehan syndrome http://www.orpha.net 99063 Shone complex http://www.orpha.net 93268 Short rib-polydactyly syndrome, Beemer-Langer type http://www.orpha.net 93269 Short rib-polydactyly syndrome, Majewski type http://www.orpha.net 93270 Short rib-polydactyly syndrome, Saldino-Noonan type http://www.orpha.net 93271 Short rib-polydactyly syndrome, Verma-Naumoff type http://www.orpha.net 935 Short-limb skeletal dysplasia with severe combined immunodeficiency http://www.orpha.net 96182 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 http://www.orpha.net 91139 Simple cryoglobulinemia http://www.orpha.net 97337 Sinding-Larsen-Johansson disease http://www.orpha.net 98784 Sleep-related hypermotor epilepsy http://www.orpha.net 93974 Smith-Fineman-Myers syndrome http://www.orpha.net 91496 Snowflake vitreoretinal degeneration http://www.orpha.net 97230 Solar urticaria http://www.orpha.net 97283 Somatostatinoma http://www.orpha.net 96256 Somatotropic adenoma http://www.orpha.net 98868 Southeast Asian ovalocytosis http://www.orpha.net 99015 Spastic paraplegia type 2 http://www.orpha.net 99013 Spastic paraplegia type 7 http://www.orpha.net 99865 Spermatocytic seminoma http://www.orpha.net 98920 Spinal muscular atrophy with respiratory distress type 1 http://www.orpha.net 98755 Spinocerebellar ataxia type 1 http://www.orpha.net 98761 Spinocerebellar ataxia type 10 http://www.orpha.net 98767 Spinocerebellar ataxia type 11 http://www.orpha.net 98762 Spinocerebellar ataxia type 12 http://www.orpha.net 98768 Spinocerebellar ataxia type 13 http://www.orpha.net 98763 Spinocerebellar ataxia type 14 http://www.orpha.net 98769 Spinocerebellar ataxia type 15/16 http://www.orpha.net 98770 Spinocerebellar ataxia type 16 http://www.orpha.net 98759 Spinocerebellar ataxia type 17 http://www.orpha.net 98771 Spinocerebellar ataxia type 18 http://www.orpha.net 98756 Spinocerebellar ataxia type 2 http://www.orpha.net 98773 Spinocerebellar ataxia type 21 http://www.orpha.net 98764 Spinocerebellar ataxia type 27A http://www.orpha.net 98765 Spinocerebellar ataxia type 4 http://www.orpha.net 98766 Spinocerebellar ataxia type 5 http://www.orpha.net 98758 Spinocerebellar ataxia type 6 http://www.orpha.net 94147 Spinocerebellar ataxia type 7 http://www.orpha.net 98760 Spinocerebellar ataxia type 8 http://www.orpha.net 94124 Spinocerebellar ataxia with axonal neuropathy type 1 http://www.orpha.net 99903 Spirillary rat-bite fever http://www.orpha.net 93357 SPONASTRIME dysplasia http://www.orpha.net 93346 Spondyloepimetaphyseal dysplasia congenita, Strudwick type http://www.orpha.net 93360 Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type http://www.orpha.net 99642 Spondyloepimetaphyseal dysplasia, Handigodu type http://www.orpha.net 93351 Spondyloepimetaphyseal dysplasia, Irapa type http://www.orpha.net 93356 Spondyloepimetaphyseal dysplasia, Missouri type http://www.orpha.net 93282 Spondyloepimetaphyseal dysplasia, PAPSS2 type http://www.orpha.net 93352 Spondyloepimetaphyseal dysplasia, Shohat type http://www.orpha.net 93358 Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome http://www.orpha.net 94068 Spondyloepiphyseal dysplasia congenita http://www.orpha.net 93283 Spondyloepiphyseal dysplasia, Kimberley type http://www.orpha.net 93280 Spondyloepiphyseal dysplasia, Omani type http://www.orpha.net 93315 Spondylometaphyseal dysplasia, 'corner fracture' type http://www.orpha.net 93314 Spondylometaphyseal dysplasia, Kozlowski type http://www.orpha.net 93316 Spondylometaphyseal dysplasia, Schmidt type http://www.orpha.net 93317 Spondylometaphyseal dysplasia, Sedaghatian type http://www.orpha.net 99977 Squamous cell carcinoma of the esophagus http://www.orpha.net 99919 Staphylococcal toxic-shock syndrome http://www.orpha.net 97552 Steroid-sensitive nephrotic syndrome without renal biopsy http://www.orpha.net 90653 Stickler syndrome type 1 http://www.orpha.net 90654 Stickler syndrome type 2 http://www.orpha.net 99064 Straddling and/or overriding mitral valve http://www.orpha.net 95461 Straddling or overriding tricuspid valve http://www.orpha.net 99905 Streptobacillary rat-bite fever http://www.orpha.net 99918 Streptococcal toxic-shock syndrome http://www.orpha.net 99113 Subaortic course of innominate vein http://www.orpha.net 99796 Subcortical band heterotopia http://www.orpha.net 98959 Subepithelial mucinous corneal dystrophy http://www.orpha.net 936 Succinic acidemia http://www.orpha.net 98915 Synaptic congenital myasthenic syndromes http://www.orpha.net 93404 Syndactyly type 3 http://www.orpha.net 93405 Syndactyly type 4 http://www.orpha.net 93406 Syndactyly type 5 http://www.orpha.net 98606 Syndromic orbital border hypoplasia http://www.orpha.net 98849 Systemic mastocytosis with associated hematologic neoplasm http://www.orpha.net 99170 Tarsal kink syndrome http://www.orpha.net 90389 Telangiectasia macularis eruptiva perstans http://www.orpha.net 96184 Temple syndrome due to maternal uniparental disomy of chromosome 14 http://www.orpha.net 983 Testicular regression syndrome http://www.orpha.net 96055 Tetrasomy 21 syndrome http://www.orpha.net 93274 Thanatophoric dysplasia type 2 http://www.orpha.net 93275 Thanatophoric dysplasia, Glasgow variant http://www.orpha.net 99917 Theca steroid-producing cell malignant tumor of ovary, not further specified http://www.orpha.net 98960 Thiel-Behnke corneal dystrophy http://www.orpha.net 99868 Thymic carcinoma http://www.orpha.net 97289 Thymic neuroendocrine tumor http://www.orpha.net 95712 Thyroid ectopia http://www.orpha.net 95719 Thyroid hemiagenesis http://www.orpha.net 95720 Thyroid hypoplasia http://www.orpha.net 97285 Thyroid lymphoma http://www.orpha.net 98141 Total autosomal monosomy syndrome http://www.orpha.net 98994 Total early-onset cataract http://www.orpha.net 98871 Transient erythroblastopenia of childhood http://www.orpha.net 99886 Transient neonatal diabetes mellitus http://www.orpha.net 93164 Transient pseudohypoaldosteronism http://www.orpha.net 95457 Tricuspid valve agenesis http://www.orpha.net 91347 TSH-secreting pituitary adenoma http://www.orpha.net 91500 Tubulointerstitial nephritis and uveitis syndrome http://www.orpha.net 99053 Tunnel subaortic stenosis http://www.orpha.net 99818 Turcot syndrome with polyposis http://www.orpha.net 99413 Turner syndrome due to structural X chromosome anomalies http://www.orpha.net 95431 Twin to twin transfusion syndrome http://www.orpha.net 99745 Typhoid http://www.orpha.net 98827 Unclassified myelodysplastic syndrome http://www.orpha.net 98825 Unclassified myelodysplastic/myeloproliferative disease http://www.orpha.net 93685 Unicentric Castleman disease http://www.orpha.net 93176 Unilateral congenital megacalycosis http://www.orpha.net 97363 Unilateral multicystic dysplastic kidney http://www.orpha.net 91140 Unspecified juvenile idiopathic arthritis http://www.orpha.net 99139 Unstable hemoglobin disease http://www.orpha.net 94059 Uremic pruritus http://www.orpha.net 99054 Valvular pulmonary stenosis http://www.orpha.net 97282 VIPoma http://www.orpha.net 99971 Well-differentiated liposarcoma http://www.orpha.net 902 Werner syndrome http://www.orpha.net 904 Williams syndrome http://www.orpha.net 905 Wilson disease http://www.orpha.net 906 Wiskott-Aldrich syndrome http://www.orpha.net 96201 X small rings syndrome http://www.orpha.net 95702 X-linked adrenal hypoplasia congenita http://www.orpha.net 99014 X-linked Charcot-Marie-Tooth disease type 5 http://www.orpha.net 98863 X-linked Emery-Dreifuss muscular dystrophy http://www.orpha.net 995 X-linked fetal akinesia syndrome http://www.orpha.net 93944 X-linked intellectual disability, Fichera type http://www.orpha.net 93947 X-linked intellectual disability, Golabi-Ito-Hall type http://www.orpha.net 93952 X-linked intellectual disability, Hedera type http://www.orpha.net 93945 X-linked intellectual disability, Porteous type http://www.orpha.net 93950 X-linked intellectual disability, Sutherland-Haan type http://www.orpha.net 93349 X-linked spondyloepimetaphyseal dysplasia http://www.orpha.net 93601 Xanthinuria type I http://www.orpha.net 93602 Xanthinuria type II http://www.orpha.net 90342 Xeroderma pigmentosum variant http://www.orpha.net 99829 Yellow fever http://www.orpha.net 97240 Zebra body myopathy http://www.orpha.net 913 Zollinger-Ellison syndrome
