{"db":"OMIM","id":"610443","name":"17q21.31 microdeletion syndrome"}
{"db":"OMIM","id":"616034","name":"2,4-Dienoyl-CoA reductase deficiency"}
{"db":"OMIM","id":"300438","name":"2-methyl-3-hydroxybutyric aciduria"}
{"db":"OMIM","id":"201910","name":"21-hydroxylase deficiency"}
{"db":"OMIM","id":"606232","name":"22q13.3 deletion syndrome"}
{"db":"OMIM","id":"201810","name":"3 beta-Hydroxysteroid dehydrogenase deficiency"}
{"db":"OMIM","id":"210200","name":"3 Methylcrotonyl-CoA carboxylase 1 deficiency"}
{"db":"OMIM","id":"210210","name":"3-methylcrotonyl CoA carboxylase 2 deficiency"}
{"db":"OMIM","id":"250950","name":"3-Methylglutaconic aciduria"}
{"db":"OMIM","id":"302060","name":"3-Methylglutaconic aciduria type 2"}
{"db":"OMIM","id":"258501","name":"3-Methylglutaconic aciduria type 3"}
{"db":"OMIM","id":"610198","name":"3-methylglutaconic aciduria type V"}
{"db":"OMIM","id":"614739","name":"3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome"}
{"db":"OMIM","id":"264600","name":"3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency"}
{"db":"OMIM","id":"140350","name":"4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency"}
{"db":"OMIM","id":"276710","name":"4-Hydroxyphenylpyruvate dioxygenase deficiency"}
{"db":"OMIM","id":"278850","name":"46,XX sex reversal, type 2"}
{"db":"OMIM","id":"607080","name":"46,XY gonadal dysgenesis, partial, with minifascicular neuropathy"}
{"db":"OMIM","id":"614279","name":"46,XY sex reversal 8"}
{"db":"OMIM","id":"400044","name":"46,XY sex reversal, type 1"}
{"db":"OMIM","id":"300018","name":"46,XY sex reversal, type 2"}
{"db":"OMIM","id":"612965","name":"46,XY sex reversal, type 3"}
{"db":"OMIM","id":"613080","name":"46,XY sex reversal, type 5"}
{"db":"OMIM","id":"613762","name":"46,XY sex reversal, type 6"}
{"db":"OMIM","id":"260005","name":"5-Oxoprolinase deficiency"}
{"db":"OMIM","id":"261640","name":"6-pyruvoyl-tetrahydropterin synthase deficiency"}
{"db":"OMIM","id":"305400","name":"Aarskog syndrome"}
{"db":"OMIM","id":"612561","name":"Aase syndrome"}
{"db":"OMIM","id":"600501","name":"ABCD syndrome"}
{"db":"OMIM","id":"615812","name":"Abdominal obesity-metabolic syndrome 3"}
{"db":"OMIM","id":"615980","name":"Abdominal obesity-metabolic syndrome 4"}
{"db":"OMIM","id":"200100","name":"Abetalipoproteinaemia"}
{"db":"OMIM","id":"302905","name":"Abruzzo Erickson syndrome"}
{"db":"OMIM","id":"242840","name":"Absent corpus callosum cataract immunodeficiency"}
{"db":"OMIM","id":"614097","name":"Acatalasemia"}
{"db":"OMIM","id":"200500","name":"Acheiropodia"}
{"db":"OMIM","id":"200610","name":"Achondrogenesis type 2"}
{"db":"OMIM","id":"200600","name":"Achondrogenesis, type IA"}
{"db":"OMIM","id":"600972","name":"Achondrogenesis, type IB"}
{"db":"OMIM","id":"100800","name":"Achondroplasia"}
{"db":"OMIM","id":"262300","name":"Achromatopsia 3"}
{"db":"OMIM","id":"613856","name":"Achromatopsia 4"}
{"db":"OMIM","id":"613736","name":"Acne inversa, familial, 2"}
{"db":"OMIM","id":"613737","name":"Acne inversa, familial, 3"}
{"db":"OMIM","id":"200990","name":"Acrocallosal syndrome, Schinzel type"}
{"db":"OMIM","id":"607778","name":"Acrocapitofemoral dysplasia"}
{"db":"OMIM","id":"101200","name":"Acrocephalosyndactyly type I"}
{"db":"OMIM","id":"101800","name":"Acrodysostosis 1 with or without hormone resistance"}
{"db":"OMIM","id":"614613","name":"Acrodysostosis 2, with or without hormone resistance"}
{"db":"OMIM","id":"248300","name":"Acroerythrokeratoderma"}
{"db":"OMIM","id":"101900","name":"Acrokeratosis verruciformis of Hopf"}
{"db":"OMIM","id":"603671","name":"Acromelic frontonasal dysostosis"}
{"db":"OMIM","id":"201250","name":"Acromesomelic dysplasia Hunter Thompson type"}
{"db":"OMIM","id":"602875","name":"Acromesomelic dysplasia Maroteaux type"}
{"db":"OMIM","id":"102370","name":"Acromicric dysplasia"}
{"db":"OMIM","id":"201400","name":"ACTH deficiency"}
{"db":"OMIM","id":"202200","name":"ACTH resistance"}
{"db":"OMIM","id":"615954","name":"Acth-independent macronodular adrenal hyperplasia 2"}
{"db":"OMIM","id":"615513","name":"Activated PI3K-delta syndrome"}
{"db":"OMIM","id":"176000","name":"Acute intermittent porphyria"}
{"db":"OMIM","id":"230900","name":"Acute neuronopathic Gaucher's disease"}
{"db":"OMIM","id":"611126","name":"Acyl-CoA dehydrogenase family, member 9, deficiency of"}
{"db":"OMIM","id":"100300","name":"Adams-Oliver syndrome 1"}
{"db":"OMIM","id":"614219","name":"Adams-Oliver syndrome 2"}
{"db":"OMIM","id":"614814","name":"Adams-Oliver syndrome 3"}
{"db":"OMIM","id":"615297","name":"Adams-Oliver syndrome 4"}
{"db":"OMIM","id":"616028","name":"Adams-Oliver syndrome 5"}
{"db":"OMIM","id":"240200","name":"Addison's disease"}
{"db":"OMIM","id":"614723","name":"Adenine phosphoribosyltransferase deficiency"}
{"db":"OMIM","id":"102900","name":"Adenosine triphosphate, elevated, of erythrocytes"}
{"db":"OMIM","id":"612631","name":"Adenylate kinase deficiency, hemolytic anemia due to"}
{"db":"OMIM","id":"103050","name":"Adenylosuccinate lyase deficiency"}
{"db":"OMIM","id":"136000","name":"Adermatoglyphia"}
{"db":"OMIM","id":"604387","name":"Adolescent nephronophthisis"}
{"db":"OMIM","id":"613743","name":"Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete"}
{"db":"OMIM","id":"300100","name":"Adrenoleukodystrophy"}
{"db":"OMIM","id":"146300","name":"Adult hypophosphatasia"}
{"db":"OMIM","id":"226650","name":"Adult junctional epidermolysis bullosa"}
{"db":"OMIM","id":"204300","name":"Adult neuronal ceroid lipofuscinosis"}
{"db":"OMIM","id":"208920","name":"Adult onset ataxia with oculomotor apraxia"}
{"db":"OMIM","id":"103285","name":"ADULT syndrome"}
{"db":"OMIM","id":"604348","name":"Advanced sleep phase syndrome, familial"}
{"db":"OMIM","id":"615224","name":"Advanced sleep phase syndrome, familial, 2"}
{"db":"OMIM","id":"610984","name":"Afibrinogenemia"}
{"db":"OMIM","id":"202400","name":"Afibrinogenemia, congenital"}
{"db":"OMIM","id":"613500","name":"Agammaglobulinemia 2, autosomal recessive"}
{"db":"OMIM","id":"613501","name":"Agammaglobulinemia 3, autosomal recessive"}
{"db":"OMIM","id":"613502","name":"Agammaglobulinemia 4, autosomal recessive"}
{"db":"OMIM","id":"613506","name":"Agammaglobulinemia 5, autosomal dominant"}
{"db":"OMIM","id":"612692","name":"Agammaglobulinemia 6, autosomal recessive"}
{"db":"OMIM","id":"615214","name":"Agammaglobulinemia 7, autosomal recessive"}
{"db":"OMIM","id":"601495","name":"Agammaglobulinemia, non-Bruton type"}
{"db":"OMIM","id":"611953","name":"Age-related macular degeneration 11"}
{"db":"OMIM","id":"153800","name":"Age-related macular degeneration 2"}
{"db":"OMIM","id":"608895","name":"Age-related macular degeneration 3"}
{"db":"OMIM","id":"613757","name":"Age-related macular degeneration 6"}
{"db":"OMIM","id":"225750","name":"Aicardi Goutieres syndrome 1"}
{"db":"OMIM","id":"610181","name":"Aicardi Goutieres syndrome 2"}
{"db":"OMIM","id":"610329","name":"Aicardi Goutieres syndrome 3"}
{"db":"OMIM","id":"610333","name":"Aicardi Goutieres syndrome 4"}
{"db":"OMIM","id":"612952","name":"Aicardi Goutieres syndrome 5"}
{"db":"OMIM","id":"615010","name":"Aicardi-goutieres syndrome 6"}
{"db":"OMIM","id":"615846","name":"Aicardi-goutieres syndrome 7"}
{"db":"OMIM","id":"615510","name":"Alacrima, achalasia, and mental retardation syndrome"}
{"db":"OMIM","id":"118450","name":"Alagille syndrome 1"}
{"db":"OMIM","id":"610205","name":"Alagille syndrome 2"}
{"db":"OMIM","id":"615071","name":"Alazami syndrome"}
{"db":"OMIM","id":"203450","name":"Alexander's disease"}
{"db":"OMIM","id":"203500","name":"Alkaptonuria"}
{"db":"OMIM","id":"300523","name":"Allan-Herndon-Dudley syndrome"}
{"db":"OMIM","id":"203655","name":"Alopecia universalis congenita"}
{"db":"OMIM","id":"612079","name":"Alopecia, neurologic defects, and endocrinopathy syndrome"}
{"db":"OMIM","id":"604131","name":"alpha Thalassemia"}
{"db":"OMIM","id":"613490","name":"Alpha-1-antitrypsin deficiency"}
{"db":"OMIM","id":"608810","name":"Alpha-B crystallinopathy"}
{"db":"OMIM","id":"613869","name":"Alpha-B crystallinopathy"}
{"db":"OMIM","id":"614307","name":"Alpha-methylacyl-CoA racemase deficiency"}
{"db":"OMIM","id":"609889","name":"Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity"}
{"db":"OMIM","id":"104200","name":"Alport syndrome, autosomal dominant"}
{"db":"OMIM","id":"203780","name":"Alport syndrome, autosomal recessive"}
{"db":"OMIM","id":"301050","name":"Alport syndrome, X-linked recessive"}
{"db":"OMIM","id":"203800","name":"Alstrom syndrome"}
{"db":"OMIM","id":"104290","name":"Alternating hemiplegia of childhood 1"}
{"db":"OMIM","id":"614820","name":"Alternating hemiplegia of childhood 2"}
{"db":"OMIM","id":"265380","name":"Alveolar capillary dysplasia with misalignment of pulmonary veins"}
{"db":"OMIM","id":"607822","name":"Alzheimer disease, type 3"}
{"db":"OMIM","id":"606889","name":"Alzheimer disease, type 4"}
{"db":"OMIM","id":"104300","name":"Alzheimer's disease"}
{"db":"OMIM","id":"104500","name":"Amelogenesis imperfecta - hypoplastic autosomal dominant - local"}
{"db":"OMIM","id":"130900","name":"Amelogenesis imperfecta, hypocalcification type"}
{"db":"OMIM","id":"204700","name":"Amelogenesis imperfecta, hypomaturation type, IIA1"}
{"db":"OMIM","id":"612529","name":"Amelogenesis imperfecta, hypomaturation type, IIA2"}
{"db":"OMIM","id":"613211","name":"AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA3"}
{"db":"OMIM","id":"614832","name":"AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA4"}
{"db":"OMIM","id":"615887","name":"AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA5"}
{"db":"OMIM","id":"301200","name":"Amelogenesis imperfecta, type 1E"}
{"db":"OMIM","id":"104530","name":"Amelogenesis imperfecta, type IA"}
{"db":"OMIM","id":"204650","name":"Amelogenesis imperfecta, type IC"}
{"db":"OMIM","id":"616221","name":"Amelogenesis imperfecta, type IH"}
{"db":"OMIM","id":"104510","name":"AMELOGENESIS IMPERFECTA, TYPE IV"}
{"db":"OMIM","id":"609924","name":"Aminoacylase 1 deficiency"}
{"db":"OMIM","id":"204750","name":"Aminoadipic aciduria"}
{"db":"OMIM","id":"580000","name":"Aminoglycoside-induced deafness"}
{"db":"OMIM","id":"609056","name":"Amish infantile epilepsy syndrome"}
{"db":"OMIM","id":"607196","name":"Amish lethal microcephaly"}
{"db":"OMIM","id":"601626","name":"AML - Acute myeloid leukemia"}
{"db":"OMIM","id":"105210","name":"Amyloidogenic transthyretin amyloidosis"}
{"db":"OMIM","id":"613955","name":"Amyloidosis, primary localized cutaneous, 2"}
{"db":"OMIM","id":"613954","name":"Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia"}
{"db":"OMIM","id":"300857","name":"Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia"}
{"db":"OMIM","id":"614373","name":"Amyotrophic lateral sclerosis 16, juvenile"}
{"db":"OMIM","id":"614696","name":"Amyotrophic lateral sclerosis 17"}
{"db":"OMIM","id":"614808","name":"Amyotrophic lateral sclerosis 18"}
{"db":"OMIM","id":"615515","name":"Amyotrophic lateral sclerosis 19"}
{"db":"OMIM","id":"615426","name":"Amyotrophic lateral sclerosis 20"}
{"db":"OMIM","id":"105400","name":"Amyotrophic lateral sclerosis type 1"}
{"db":"OMIM","id":"612069","name":"Amyotrophic lateral sclerosis type 10"}
{"db":"OMIM","id":"612577","name":"Amyotrophic lateral sclerosis type 11"}
{"db":"OMIM","id":"613435","name":"Amyotrophic lateral sclerosis type 12"}
{"db":"OMIM","id":"205100","name":"Amyotrophic lateral sclerosis type 2"}
{"db":"OMIM","id":"602433","name":"Amyotrophic lateral sclerosis type 4"}
{"db":"OMIM","id":"608030","name":"Amyotrophic lateral sclerosis type 6"}
{"db":"OMIM","id":"608627","name":"Amyotrophic lateral sclerosis type 8"}
{"db":"OMIM","id":"611895","name":"Amyotrophic lateral sclerosis type 9"}
{"db":"OMIM","id":"212070","name":"Anaphylotoxin inactivator deficiency"}
{"db":"OMIM","id":"607095","name":"Anauxetic dysplasia"}
{"db":"OMIM","id":"218000","name":"Andermann syndrome"}
{"db":"OMIM","id":"170390","name":"Andersen Tawil syndrome"}
{"db":"OMIM","id":"300068","name":"Androgen resistance syndrome"}
{"db":"OMIM","id":"301310","name":"Anemia sideroblastic and spinocerebellar ataxia"}
{"db":"OMIM","id":"300835","name":"Anemia without thromobocytopenia, X-linked"}
{"db":"OMIM","id":"615631","name":"ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ib"}
{"db":"OMIM","id":"300908","name":"Anemia, nonspherocytic hemolytic, due to G6PD deficiency"}
{"db":"OMIM","id":"205950","name":"Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive"}
{"db":"OMIM","id":"105830","name":"Angelman syndrome"}
{"db":"OMIM","id":"611773","name":"Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps"}
{"db":"OMIM","id":"206700","name":"Aniridia, cerebellar ataxia, and mental retardation"}
{"db":"OMIM","id":"206800","name":"Anonychia"}
{"db":"OMIM","id":"206920","name":"Anophthalmos with limb anomalies"}
{"db":"OMIM","id":"107250","name":"Anterior segment mesenchymal dysgenesis"}
{"db":"OMIM","id":"262850","name":"Anti-plasmin deficiency, congenital"}
{"db":"OMIM","id":"613118","name":"Antithrombin III deficiency"}
{"db":"OMIM","id":"201750","name":"Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis"}
{"db":"OMIM","id":"207410","name":"Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis"}
{"db":"OMIM","id":"132900","name":"Aortic aneurysm, familial thoracic 4"}
{"db":"OMIM","id":"611788","name":"Aortic aneurysm, familial thoracic 6"}
{"db":"OMIM","id":"613780","name":"Aortic aneurysm, familial thoracic 7"}
{"db":"OMIM","id":"615436","name":"Aortic aneurysm, familial thoracic 8"}
{"db":"OMIM","id":"616166","name":"Aortic aneurysm, familial thoracic 9"}
{"db":"OMIM","id":"614823","name":"Aortic valve disease 2"}
{"db":"OMIM","id":"109730","name":"Aortic valve disorder"}
{"db":"OMIM","id":"610256","name":"Aphakia, congenital primary"}
{"db":"OMIM","id":"107600","name":"Aplasia cutis congenita"}
{"db":"OMIM","id":"300887","name":"Aplasia cutis congenita, reticulolinear, with microcephaly, facial dysmorphism, and other congenital anomalies"}
{"db":"OMIM","id":"117800","name":"Apocrine gland secretion, variation in"}
{"db":"OMIM","id":"207750","name":"Apolipoprotein C2 deficiency"}
{"db":"OMIM","id":"218030","name":"Apparent mineralocorticoid excess"}
{"db":"OMIM","id":"207800","name":"Arginase deficiency"}
{"db":"OMIM","id":"612718","name":"Arginine:glycine amidinotransferase deficiency"}
{"db":"OMIM","id":"207900","name":"Argininosuccinate lyase deficiency"}
{"db":"OMIM","id":"613546","name":"Aromatase deficiency"}
{"db":"OMIM","id":"107970","name":"Arrhythmogenic right ventricular cardiomyopathy, type 1"}
{"db":"OMIM","id":"610193","name":"Arrhythmogenic right ventricular cardiomyopathy, type 10"}
{"db":"OMIM","id":"610476","name":"Arrhythmogenic right ventricular cardiomyopathy, type 11"}
{"db":"OMIM","id":"611528","name":"Arrhythmogenic right ventricular cardiomyopathy, type 12"}
{"db":"OMIM","id":"600996","name":"Arrhythmogenic right ventricular cardiomyopathy, type 2"}
{"db":"OMIM","id":"604400","name":"Arrhythmogenic right ventricular cardiomyopathy, type 5"}
{"db":"OMIM","id":"607450","name":"Arrhythmogenic right ventricular cardiomyopathy, type 8"}
{"db":"OMIM","id":"609040","name":"Arrhythmogenic right ventricular cardiomyopathy, type 9"}
{"db":"OMIM","id":"615616","name":"Arrhythmogenic right ventricular dysplasia, familial, 13"}
{"db":"OMIM","id":"208000","name":"Arterial calcification of infancy"}
{"db":"OMIM","id":"208050","name":"Arterial tortuosity syndrome"}
{"db":"OMIM","id":"108120","name":"Arthrogryposis multiplex congenita distal type 1"}
{"db":"OMIM","id":"301830","name":"Arthrogryposis multiplex congenita, distal, X-linked"}
{"db":"OMIM","id":"208085","name":"Arthrogryposis renal dysfunction cholestasis syndrome"}
{"db":"OMIM","id":"615065","name":"Arthrogryposis, distal, type 5d"}
{"db":"OMIM","id":"615553","name":"Arthrogryposis, mental retardation, and seizures"}
{"db":"OMIM","id":"613404","name":"Arthrogryposis, renal dysfunction, and cholestasis 2"}
{"db":"OMIM","id":"301835","name":"Arts syndrome"}
{"db":"OMIM","id":"615574","name":"Asparagine synthetase deficiency"}
{"db":"OMIM","id":"208400","name":"Aspartylglycosaminuria"}
{"db":"OMIM","id":"611263","name":"Asphyxiating thoracic dystrophy 2"}
{"db":"OMIM","id":"613819","name":"Asphyxiating thoracic dystrophy 4"}
{"db":"OMIM","id":"614376","name":"Asphyxiating thoracic dystrophy 5"}
{"db":"OMIM","id":"616192","name":"Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus"}
{"db":"OMIM","id":"608984","name":"Ataxia, sensory, autosomal dominant"}
{"db":"OMIM","id":"108600","name":"Ataxia, spastic, 1, autosomal dominant"}
{"db":"OMIM","id":"611302","name":"Ataxia, spastic, 2, autosomal recessive"}
{"db":"OMIM","id":"611390","name":"Ataxia, spastic, 3, autosomal recessive"}
{"db":"OMIM","id":"613672","name":"Ataxia, spastic, 4, autosomal recessive"}
{"db":"OMIM","id":"615217","name":"Ataxia-oculomotor apraxia 3"}
{"db":"OMIM","id":"208900","name":"Ataxia-telangiectasia syndrome"}
{"db":"OMIM","id":"604391","name":"Ataxia-telangiectasia-like disorder"}
{"db":"OMIM","id":"615919","name":"Ataxia-telangiectasia-like disorder 2"}
{"db":"OMIM","id":"262400","name":"Ateleiotic dwarfism"}
{"db":"OMIM","id":"108720","name":"Atelosteogenesis type 1"}
{"db":"OMIM","id":"256050","name":"Atelosteogenesis type 2"}
{"db":"OMIM","id":"108721","name":"Atelosteogenesis type 3"}
{"db":"OMIM","id":"601536","name":"Athabaskan brainstem dysgenesis"}
{"db":"OMIM","id":"301040","name":"ATR-X syndrome"}
{"db":"OMIM","id":"209300","name":"Atransferrinemia"}
{"db":"OMIM","id":"614022","name":"Atrial fibrillation, familial, 10"}
{"db":"OMIM","id":"614049","name":"Atrial fibrillation, familial, 11"}
{"db":"OMIM","id":"614050","name":"Atrial fibrillation, familial, 12"}
{"db":"OMIM","id":"615378","name":"Atrial fibrillation, familial, 14"}
{"db":"OMIM","id":"615770","name":"Atrial fibrillation, familial, 15"}
{"db":"OMIM","id":"607554","name":"Atrial fibrillation, familial, 3"}
{"db":"OMIM","id":"611493","name":"Atrial fibrillation, familial, 4"}
{"db":"OMIM","id":"612201","name":"Atrial fibrillation, familial, 6"}
{"db":"OMIM","id":"612240","name":"Atrial fibrillation, familial, 7"}
{"db":"OMIM","id":"613980","name":"Atrial fibrillation, familial, 9"}
{"db":"OMIM","id":"255960","name":"Atrial myxoma, familial"}
{"db":"OMIM","id":"607941","name":"Atrial septal defect 2"}
{"db":"OMIM","id":"614089","name":"Atrial septal defect 3"}
{"db":"OMIM","id":"611363","name":"Atrial septal defect 4"}
{"db":"OMIM","id":"612794","name":"Atrial septal defect 5"}
{"db":"OMIM","id":"613087","name":"Atrial septal defect 6"}
{"db":"OMIM","id":"108900","name":"Atrial septal defect 7 with or without atrioventricular conduction defects"}
{"db":"OMIM","id":"614433","name":"Atrial septal defect 8"}
{"db":"OMIM","id":"614475","name":"Atrial septal defect 9"}
{"db":"OMIM","id":"615745","name":"Atrial standstill 2"}
{"db":"OMIM","id":"209500","name":"Atrichia with papular lesions"}
{"db":"OMIM","id":"614430","name":"Atrioventricular septal defect 4"}
{"db":"OMIM","id":"614474","name":"Atrioventricular septal defect 5"}
{"db":"OMIM","id":"600309","name":"Atrioventricular septal defect and common atrioventricular junction"}
{"db":"OMIM","id":"310600","name":"Atrophia bulborum hereditaria"}
{"db":"OMIM","id":"300645","name":"Atypical mycobacteriosis, familial, X-linked 2"}
{"db":"OMIM","id":"609129","name":"Auditory neuropathy, autosomal dominant, 1"}
{"db":"OMIM","id":"607842","name":"Aural atresia, congenital"}
{"db":"OMIM","id":"602483","name":"Auriculocondylar syndrome 1"}
{"db":"OMIM","id":"614669","name":"Auriculocondylar syndrome 2"}
{"db":"OMIM","id":"615706","name":"Auriculocondylar syndrome 3"}
{"db":"OMIM","id":"615952","name":"Autoimmune disease, multisystem, infantile-onset"}
{"db":"OMIM","id":"613385","name":"Autoimmune disease, syndromic multisystem"}
{"db":"OMIM","id":"601859","name":"Autoimmune lymphoproliferative syndrome"}
{"db":"OMIM","id":"603909","name":"Autoimmune lymphoproliferative syndrome, type 2"}
{"db":"OMIM","id":"616100","name":"AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V"}
{"db":"OMIM","id":"616050","name":"Autoinflammation with infantile enterocolitis"}
{"db":"OMIM","id":"614878","name":"Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated"}
{"db":"OMIM","id":"614893","name":"Autosomal dominant CD11C+/CD1C+ dendritic cell deficiency"}
{"db":"OMIM","id":"129490","name":"Autosomal dominant hypohidrotic ectodermal dysplasia"}
{"db":"OMIM","id":"193100","name":"Autosomal dominant hypophosphatemic rickets"}
{"db":"OMIM","id":"173100","name":"Autosomal dominant isolated somatotropin deficiency"}
{"db":"OMIM","id":"157640","name":"Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1"}
{"db":"OMIM","id":"609283","name":"Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2"}
{"db":"OMIM","id":"609286","name":"Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3"}
{"db":"OMIM","id":"610131","name":"Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4"}
{"db":"OMIM","id":"613077","name":"Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5"}
{"db":"OMIM","id":"128101","name":"Autosomal dominant torsion dystonia 4"}
{"db":"OMIM","id":"255200","name":"Autosomal recessive centronuclear myopathy"}
{"db":"OMIM","id":"242300","name":"Autosomal recessive congenital ichthyosis 1"}
{"db":"OMIM","id":"615024","name":"Autosomal recessive congenital ichthyosis 10"}
{"db":"OMIM","id":"242100","name":"Autosomal recessive congenital ichthyosis 2"}
{"db":"OMIM","id":"606545","name":"Autosomal recessive congenital ichthyosis 3"}
{"db":"OMIM","id":"601277","name":"Autosomal recessive congenital ichthyosis 4A"}
{"db":"OMIM","id":"242500","name":"Autosomal recessive congenital ichthyosis 4B"}
{"db":"OMIM","id":"604777","name":"Autosomal recessive congenital ichthyosis 5"}
{"db":"OMIM","id":"612281","name":"Autosomal recessive congenital ichthyosis 6"}
{"db":"OMIM","id":"613943","name":"Autosomal recessive congenital ichthyosis 8"}
{"db":"OMIM","id":"615023","name":"Autosomal recessive congenital ichthyosis 9"}
{"db":"OMIM","id":"614437","name":"Autosomal recessive cutis laxa type 1B"}
{"db":"OMIM","id":"612940","name":"Autosomal recessive cutis laxa type 2B"}
{"db":"OMIM","id":"614438","name":"Autosomal recessive cutis laxa type 3B"}
{"db":"OMIM","id":"219100","name":"Autosomal recessive cutis laxa type IA"}
{"db":"OMIM","id":"224900","name":"Autosomal recessive hypohidrotic ectodermal dysplasia syndrome"}
{"db":"OMIM","id":"241530","name":"Autosomal recessive hypophosphatemic bone disease"}
{"db":"OMIM","id":"241520","name":"Autosomal recessive hypophosphatemic vitamin D refractory rickets"}
{"db":"OMIM","id":"607541","name":"Avellino corneal dystrophy"}
{"db":"OMIM","id":"180500","name":"Axenfeld-Rieger syndrome type 1"}
{"db":"OMIM","id":"602482","name":"Axenfeld-Rieger syndrome type 3"}
{"db":"OMIM","id":"109150","name":"Azorean disease"}
{"db":"OMIM","id":"218600","name":"Baller-Gerold syndrome"}
{"db":"OMIM","id":"241850","name":"Bamforth syndrome"}
{"db":"OMIM","id":"251290","name":"Band-like calcification with simplified gyration and polymicrogyria"}
{"db":"OMIM","id":"153480","name":"Bannayan-Riley-Ruvalcaba syndrome"}
{"db":"OMIM","id":"614583","name":"Baraitser-Winter Syndrome 2"}
{"db":"OMIM","id":"146255","name":"Barakat syndrome"}
{"db":"OMIM","id":"209900","name":"Bardet-Biedl syndrome"}
{"db":"OMIM","id":"615987","name":"Bardet-Biedl syndrome 10"}
{"db":"OMIM","id":"615988","name":"Bardet-Biedl syndrome 11"}
{"db":"OMIM","id":"615989","name":"Bardet-Biedl syndrome 12"}
{"db":"OMIM","id":"615990","name":"Bardet-Biedl syndrome 13"}
{"db":"OMIM","id":"615991","name":"Bardet-Biedl syndrome 14"}
{"db":"OMIM","id":"615993","name":"Bardet-Biedl syndrome 16"}
{"db":"OMIM","id":"615994","name":"Bardet-Biedl syndrome 17"}
{"db":"OMIM","id":"615995","name":"Bardet-Biedl syndrome 18"}
{"db":"OMIM","id":"615996","name":"Bardet-Biedl syndrome 19"}
{"db":"OMIM","id":"615981","name":"Bardet-Biedl syndrome 2"}
{"db":"OMIM","id":"600151","name":"Bardet-Biedl syndrome 3"}
{"db":"OMIM","id":"615982","name":"Bardet-Biedl syndrome 4"}
{"db":"OMIM","id":"615983","name":"Bardet-Biedl syndrome 5"}
{"db":"OMIM","id":"605231","name":"Bardet-Biedl syndrome 6"}
{"db":"OMIM","id":"615984","name":"Bardet-Biedl syndrome 7"}
{"db":"OMIM","id":"615985","name":"Bardet-Biedl syndrome 8"}
{"db":"OMIM","id":"615986","name":"Bardet-Biedl syndrome 9"}
{"db":"OMIM","id":"604571","name":"Bare lymphocyte syndrome type 1"}
{"db":"OMIM","id":"601678","name":"Bartter syndrome antenatal type 1"}
{"db":"OMIM","id":"241200","name":"Bartter syndrome antenatal type 2"}
{"db":"OMIM","id":"607364","name":"Bartter syndrome type 3"}
{"db":"OMIM","id":"602522","name":"Bartter syndrome type 4"}
{"db":"OMIM","id":"613090","name":"Bartter syndrome, type 4b"}
{"db":"OMIM","id":"615007","name":"Basal ganglia calcification, idiopathic, 4"}
{"db":"OMIM","id":"607483","name":"Basal ganglia disease, biotin-responsive"}
{"db":"OMIM","id":"126700","name":"Basal laminar drusen"}
{"db":"OMIM","id":"158000","name":"Beaded hair"}
{"db":"OMIM","id":"613680","name":"Beaulieu-Boycott-Innes syndrome"}
{"db":"OMIM","id":"300376","name":"Becker muscular dystrophy"}
{"db":"OMIM","id":"130650","name":"Beckwith-Wiedemann syndrome"}
{"db":"OMIM","id":"141200","name":"Benign familial hematuria"}
{"db":"OMIM","id":"121200","name":"Benign familial neonatal seizures 1"}
{"db":"OMIM","id":"121201","name":"Benign familial neonatal seizures 2"}
{"db":"OMIM","id":"607745","name":"Benign familial neonatal-infantile seizures"}
{"db":"OMIM","id":"118700","name":"Benign hereditary chorea"}
{"db":"OMIM","id":"243300","name":"Benign recurrent intrahepatic cholestasis 1"}
{"db":"OMIM","id":"605479","name":"Benign recurrent intrahepatic cholestasis 2"}
{"db":"OMIM","id":"181350","name":"Benign scapuloperoneal muscular dystrophy with cardiomyopathy"}
{"db":"OMIM","id":"614592","name":"Bent bone dysplasia syndrome"}
{"db":"OMIM","id":"153670","name":"Bernard-Soulier syndrome, type A2, autosomal dominant"}
{"db":"OMIM","id":"611809","name":"Bestrophinopathy, autosomal recessive"}
{"db":"OMIM","id":"613985","name":"beta Thalassemia"}
{"db":"OMIM","id":"248510","name":"Beta-D-mannosidosis"}
{"db":"OMIM","id":"250620","name":"Beta-hydroxyisobutyryl-CoA deacylase deficiency"}
{"db":"OMIM","id":"603902","name":"Beta-thalassemia, dominant inclusion body type"}
{"db":"OMIM","id":"158810","name":"Bethlem myopathy"}
{"db":"OMIM","id":"210370","name":"Bietti crystalline corneoretinal dystrophy"}
{"db":"OMIM","id":"608980","name":"Bifid nose with or without anorectal and renal anomalies"}
{"db":"OMIM","id":"261515","name":"Bifunctional peroxisomal enzyme deficiency"}
{"db":"OMIM","id":"208530","name":"Bilateral right-sidedness sequence"}
{"db":"OMIM","id":"613291","name":"Bile acid malabsorption, primary"}
{"db":"OMIM","id":"607765","name":"Bile acid synthesis defect, congenital, 1"}
{"db":"OMIM","id":"235555","name":"Bile acid synthesis defect, congenital, 2"}
{"db":"OMIM","id":"613812","name":"Bile acid synthesis defect, congenital, 3"}
{"db":"OMIM","id":"214950","name":"Bile acid synthesis defect, congenital, 4"}
{"db":"OMIM","id":"253260","name":"Biotinidase deficiency"}
{"db":"OMIM","id":"612292","name":"Birk Barel mental retardation dysmorphism syndrome"}
{"db":"OMIM","id":"186580","name":"Blau syndrome"}
{"db":"OMIM","id":"615888","name":"Bleeding disorder, platelet-type, 18"}
{"db":"OMIM","id":"616176","name":"Bleeding disorder, platelet-type, 19"}
{"db":"OMIM","id":"110100","name":"Blepharophimosis, ptosis, and epicanthus inversus"}
{"db":"OMIM","id":"606798","name":"Blepharospasm"}
{"db":"OMIM","id":"615264","name":"Blood group, vel system"}
{"db":"OMIM","id":"111150","name":"BLOOD GROUP--LUTHERAN INHIBITOR"}
{"db":"OMIM","id":"210900","name":"Bloom syndrome"}
{"db":"OMIM","id":"612394","name":"Bone fragility with contractures, arterial rupture, and deafness"}
{"db":"OMIM","id":"615715","name":"Bone marrow failure syndrome 2"}
{"db":"OMIM","id":"614675","name":"Bone marrow failure, familial"}
{"db":"OMIM","id":"601884","name":"Bone mineral density quantitative trait locus 1"}
{"db":"OMIM","id":"112310","name":"Boomerang dysplasia"}
{"db":"OMIM","id":"301900","name":"Borjeson-Forssman-Lehmann syndrome"}
{"db":"OMIM","id":"211170","name":"Borrone Di Rocco Crovato syndrome"}
{"db":"OMIM","id":"615722","name":"Bosch-boonstra-schaaf optic atrophy syndrome"}
{"db":"OMIM","id":"607475","name":"Bothnia retinal dystrophy"}
{"db":"OMIM","id":"215470","name":"Boucher Neuhauser syndrome"}
{"db":"OMIM","id":"211180","name":"Bowen-Conradi syndrome"}
{"db":"OMIM","id":"112500","name":"Brachydactyly type A1"}
{"db":"OMIM","id":"112600","name":"Brachydactyly type A2"}
{"db":"OMIM","id":"113000","name":"Brachydactyly type B1"}
{"db":"OMIM","id":"611377","name":"Brachydactyly type B2"}
{"db":"OMIM","id":"113100","name":"Brachydactyly type C"}
{"db":"OMIM","id":"113200","name":"Brachydactyly type D"}
{"db":"OMIM","id":"113300","name":"Brachydactyly type E1"}
{"db":"OMIM","id":"613382","name":"Brachydactyly type E2"}
{"db":"OMIM","id":"615072","name":"BRACHYDACTYLY, TYPE A1, C"}
{"db":"OMIM","id":"600430","name":"Brachydactyly-Mental Retardation syndrome"}
{"db":"OMIM","id":"610713","name":"Brachydactyly-syndactyly syndrome"}
{"db":"OMIM","id":"113500","name":"Brachyrachia (short spine dysplasia)"}
{"db":"OMIM","id":"607595","name":"Brain small vessel disease with hemorrhage"}
{"db":"OMIM","id":"614923","name":"Branched-chain ketoacid dehydrogenase kinase deficiency"}
{"db":"OMIM","id":"113620","name":"Branchiooculofacial syndrome"}
{"db":"OMIM","id":"602588","name":"Branchiootic syndrome"}
{"db":"OMIM","id":"608389","name":"Branchiootic syndrome 3"}
{"db":"OMIM","id":"610896","name":"Branchiootorenal syndrome 2"}
{"db":"OMIM","id":"604370","name":"Breast-ovarian cancer, familial 1"}
{"db":"OMIM","id":"612555","name":"Breast-ovarian cancer, familial 2"}
{"db":"OMIM","id":"616001","name":"Breasts and/or nipples, aplasia or hypoplasia of, 2"}
{"db":"OMIM","id":"614170","name":"Brittle cornea syndrome 2"}
{"db":"OMIM","id":"601003","name":"Brody myopathy"}
{"db":"OMIM","id":"211400","name":"Bronchiectasis"}
{"db":"OMIM","id":"613021","name":"Bronchiectasis with or without elevated sweat chloride 2"}
{"db":"OMIM","id":"613071","name":"Bronchiectasis with or without elevated sweat chloride 3"}
{"db":"OMIM","id":"211530","name":"Brown-Vialetto-Van laere syndrome"}
{"db":"OMIM","id":"614707","name":"Brown-Vialetto-Van Laere syndrome 2"}
{"db":"OMIM","id":"259450","name":"Bruck syndrome 1"}
{"db":"OMIM","id":"609220","name":"Bruck syndrome 2"}
{"db":"OMIM","id":"601144","name":"Brugada syndrome 1"}
{"db":"OMIM","id":"611777","name":"Brugada syndrome 2"}
{"db":"OMIM","id":"611875","name":"Brugada syndrome 3"}
{"db":"OMIM","id":"611876","name":"Brugada syndrome 4"}
{"db":"OMIM","id":"612838","name":"Brugada syndrome 5"}
{"db":"OMIM","id":"613119","name":"Brugada syndrome 6"}
{"db":"OMIM","id":"613120","name":"Brugada syndrome 7"}
{"db":"OMIM","id":"613123","name":"Brugada syndrome 8"}
{"db":"OMIM","id":"313200","name":"Bulbo-spinal atrophy X-linked"}
{"db":"OMIM","id":"608051","name":"Bull's eye macular dystrophy"}
{"db":"OMIM","id":"113800","name":"Bullous ichthyosiform erythroderma"}
{"db":"OMIM","id":"113970","name":"Burkitt lymphoma"}
{"db":"OMIM","id":"608572","name":"Burn-Mckeown syndrome"}
{"db":"OMIM","id":"211750","name":"C syndrome"}
{"db":"OMIM","id":"605039","name":"C-like syndrome"}
{"db":"OMIM","id":"613652","name":"C1q deficiency"}
{"db":"OMIM","id":"615082","name":"C3hex, ability to smell"}
{"db":"OMIM","id":"193520","name":"Caf -au-lait macules with pulmonary stenosis"}
{"db":"OMIM","id":"211800","name":"Calcification of joints and arteries"}
{"db":"OMIM","id":"208250","name":"Camptodactyly arthropathy coxa vara pericarditis syndrome"}
{"db":"OMIM","id":"610474","name":"Camptodactyly, tall stature, and hearing loss syndrome"}
{"db":"OMIM","id":"114290","name":"Camptomelic dysplasia"}
{"db":"OMIM","id":"212050","name":"Candidiasis, familial, 2"}
{"db":"OMIM","id":"613953","name":"Candidiasis, familial, 5"}
{"db":"OMIM","id":"613956","name":"Candidiasis, familial, 6"}
{"db":"OMIM","id":"615527","name":"Candidiasis, familial, 8"}
{"db":"OMIM","id":"608354","name":"Capillary malformation-arteriovenous malformation"}
{"db":"OMIM","id":"212065","name":"Carbohydrate-deficient glycoprotein syndrome type I"}
{"db":"OMIM","id":"212066","name":"Carbohydrate-deficient glycoprotein syndrome type II"}
{"db":"OMIM","id":"615751","name":"Carbonic anhydrase VA deficiency, hyperammonemia due to"}
{"db":"OMIM","id":"114900","name":"Carcinoid tumor of intestine"}
{"db":"OMIM","id":"114500","name":"Carcinoma of colon"}
{"db":"OMIM","id":"615206","name":"CARD11 immunodeficiency"}
{"db":"OMIM","id":"115000","name":"Cardiac arrhythmia"}
{"db":"OMIM","id":"600919","name":"Cardiac arrhythmia, ankyrin B-related"}
{"db":"OMIM","id":"314400","name":"Cardiac valvular dysplasia, X-linked"}
{"db":"OMIM","id":"115150","name":"Cardio-facio-cutaneous syndrome"}
{"db":"OMIM","id":"604377","name":"Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency"}
{"db":"OMIM","id":"615119","name":"Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2"}
{"db":"OMIM","id":"615278","name":"Cardiofaciocutaneous syndrome 2"}
{"db":"OMIM","id":"605676","name":"Cardiomyopathy dilated with woolly hair and keratoderma"}
{"db":"OMIM","id":"615916","name":"Cardiomyopathy, dilated, 1nn"}
{"db":"OMIM","id":"613694","name":"Cardiomyopathy, dilated, 1u"}
{"db":"OMIM","id":"614672","name":"Cardiomyopathy, dilated, 2b"}
{"db":"OMIM","id":"615821","name":"Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis"}
{"db":"OMIM","id":"265050","name":"Carnevale syndrome"}
{"db":"OMIM","id":"608837","name":"Carney complex variant"}
{"db":"OMIM","id":"160980","name":"Carney complex, type 1"}
{"db":"OMIM","id":"212138","name":"Carnitine acylcarnitine translocase deficiency"}
{"db":"OMIM","id":"255120","name":"Carnitine palmitoyltransferase I deficiency"}
{"db":"OMIM","id":"600649","name":"Carnitine palmitoyltransferase II deficiency, infantile"}
{"db":"OMIM","id":"255110","name":"CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET"}
{"db":"OMIM","id":"608836","name":"CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL"}
{"db":"OMIM","id":"201000","name":"Carpenter syndrome 1"}
{"db":"OMIM","id":"614976","name":"Carpenter syndrome 2"}
{"db":"OMIM","id":"607271","name":"Caspase-8 deficiency"}
{"db":"OMIM","id":"116200","name":"Cataract 1"}
{"db":"OMIM","id":"615274","name":"Cataract 15, multiple types"}
{"db":"OMIM","id":"615277","name":"Cataract 19"}
{"db":"OMIM","id":"610425","name":"Cataract 23"}
{"db":"OMIM","id":"601547","name":"Cataract 3"}
{"db":"OMIM","id":"615188","name":"Cataract 39, multiple types"}
{"db":"OMIM","id":"115700","name":"Cataract 4"}
{"db":"OMIM","id":"302200","name":"Cataract 40"}
{"db":"OMIM","id":"116600","name":"Cataract 6"}
{"db":"OMIM","id":"212350","name":"Cataract and cardiomyopathy"}
{"db":"OMIM","id":"604219","name":"Cataract, autosomal dominant"}
{"db":"OMIM","id":"611597","name":"Cataract, autosomal dominant, multiple types 1"}
{"db":"OMIM","id":"610019","name":"Cataract, autosomal recessive congenital 2"}
{"db":"OMIM","id":"613887","name":"Cataract, autosomal recessive congenital 4"}
{"db":"OMIM","id":"614691","name":"Cataract, autosomal recessive congenital 5"}
{"db":"OMIM","id":"609741","name":"Cataract, congenital nuclear, autosomal recessive 2"}
{"db":"OMIM","id":"611544","name":"Cataract, congenital nuclear, autosomal recessive 3"}
{"db":"OMIM","id":"600881","name":"Cataract, congenital zonular, with sutural opacities"}
{"db":"OMIM","id":"604307","name":"Cataract, coppock-like"}
{"db":"OMIM","id":"611391","name":"Cataract, cortical, juvenile-onset"}
{"db":"OMIM","id":"612018","name":"Cataract, juvenile, with microcornea and glucosuria"}
{"db":"OMIM","id":"116100","name":"Cataract, membranous"}
{"db":"OMIM","id":"212550","name":"Cataract, microphthalmia and nystagmus"}
{"db":"OMIM","id":"116300","name":"Cataract, nuclear diffuse nonprogressive"}
{"db":"OMIM","id":"116400","name":"Cataract, nuclear total"}
{"db":"OMIM","id":"605387","name":"Cataract, posterior polar, 3"}
{"db":"OMIM","id":"610202","name":"Cataract, pulverulent, juvenile-onset"}
{"db":"OMIM","id":"116800","name":"Cataract, zonular"}
{"db":"OMIM","id":"601088","name":"Cataracts, congenital, with sensorineural deafness, down syndrome-like facial appearance, short stature, and mental retardation"}
{"db":"OMIM","id":"616007","name":"Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia"}
{"db":"OMIM","id":"604772","name":"Catecholaminergic polymorphic ventricular tachycardia"}
{"db":"OMIM","id":"616145","name":"Catel Manzke syndrome"}
{"db":"OMIM","id":"612997","name":"CATSPER-Related Male Infertility"}
{"db":"OMIM","id":"607864","name":"Caudal duplication anomaly"}
{"db":"OMIM","id":"612300","name":"Cd59 deficiency"}
{"db":"OMIM","id":"608957","name":"Cd8 deficiency, familial"}
{"db":"OMIM","id":"117000","name":"Central core disease"}
{"db":"OMIM","id":"176400","name":"Central precocious puberty"}
{"db":"OMIM","id":"242860","name":"Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency"}
{"db":"OMIM","id":"212840","name":"Cerebellar ataxia and hypogonadotropic hypogonadism"}
{"db":"OMIM","id":"258450","name":"Cerebellar ataxia infantile with progressive external ophthalmoplegia"}
{"db":"OMIM","id":"601338","name":"Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss"}
{"db":"OMIM","id":"604121","name":"Cerebellar ataxia, deafness, and narcolepsy"}
{"db":"OMIM","id":"610185","name":"Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2"}
{"db":"OMIM","id":"613227","name":"Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3"}
{"db":"OMIM","id":"615268","name":"Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4"}
{"db":"OMIM","id":"614756","name":"Cerebellar ataxia, nonprogressive, with mental retardation"}
{"db":"OMIM","id":"616202","name":"Cerebellofaciodental syndrome"}
{"db":"OMIM","id":"605714","name":"Cerebral amyloid angiopathy, APP-related"}
{"db":"OMIM","id":"125310","name":"Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy"}
{"db":"OMIM","id":"600142","name":"Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy"}
{"db":"OMIM","id":"116860","name":"Cerebral cavernous malformation"}
{"db":"OMIM","id":"603284","name":"Cerebral cavernous malformations 2"}
{"db":"OMIM","id":"603285","name":"Cerebral cavernous malformations 3"}
{"db":"OMIM","id":"609528","name":"Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome"}
{"db":"OMIM","id":"613068","name":"Cerebral folate deficiency"}
{"db":"OMIM","id":"603513","name":"Cerebral palsy, spastic quadriplegic, 1"}
{"db":"OMIM","id":"612900","name":"Cerebral palsy, spastic quadriplegic, 2"}
{"db":"OMIM","id":"612936","name":"Cerebral palsy, spastic quadriplegic, 3"}
{"db":"OMIM","id":"613744","name":"Cerebral palsy, spastic quadriplegic, 4"}
{"db":"OMIM","id":"614066","name":"Cerebral palsy, spastic quadriplegic, 5"}
{"db":"OMIM","id":"614067","name":"Cerebral palsy, spastic quadriplegic, 6"}
{"db":"OMIM","id":"117650","name":"Cerebro-costo-mandibular syndrome"}
{"db":"OMIM","id":"214150","name":"Cerebro-oculo-facio-skeletal syndrome"}
{"db":"OMIM","id":"610756","name":"Cerebrooculofacioskeletal syndrome 2"}
{"db":"OMIM","id":"610758","name":"Cerebrooculofacioskeletal syndrome 4"}
{"db":"OMIM","id":"612199","name":"Cerebroretinal microangiopathy with calcifications and cysts"}
{"db":"OMIM","id":"256730","name":"Ceroid lipofuscinosis neuronal 1"}
{"db":"OMIM","id":"610127","name":"Ceroid lipofuscinosis neuronal 10"}
{"db":"OMIM","id":"162350","name":"Ceroid lipofuscinosis neuronal 4B autosomal dominant"}
{"db":"OMIM","id":"256731","name":"Ceroid lipofuscinosis neuronal 5"}
{"db":"OMIM","id":"601780","name":"Ceroid lipofuscinosis neuronal 6"}
{"db":"OMIM","id":"610951","name":"Ceroid lipofuscinosis neuronal 7"}
{"db":"OMIM","id":"600143","name":"Ceroid lipofuscinosis neuronal 8"}
{"db":"OMIM","id":"614706","name":"Ceroid lipofuscinosis, neuronal, 11"}
{"db":"OMIM","id":"615362","name":"Ceroid lipofuscinosis, neuronal, 13"}
{"db":"OMIM","id":"204500","name":"Ceroid lipofuscinosis, neuronal, 2"}
{"db":"OMIM","id":"610003","name":"Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant"}
{"db":"OMIM","id":"614809","name":"CFHR5 deficiency"}
{"db":"OMIM","id":"169100","name":"Char syndrome"}
{"db":"OMIM","id":"607791","name":"Charcot-Marie-Tooth disease dominant intermediate 3"}
{"db":"OMIM","id":"600882","name":"Charcot-Marie-Tooth disease type 2B"}
{"db":"OMIM","id":"605588","name":"Charcot-Marie-Tooth disease type 2B1"}
{"db":"OMIM","id":"605589","name":"Charcot-Marie-Tooth disease type 2B2"}
{"db":"OMIM","id":"606071","name":"Charcot-Marie-Tooth disease type 2C"}
{"db":"OMIM","id":"601472","name":"Charcot-Marie-Tooth disease type 2D"}
{"db":"OMIM","id":"607684","name":"Charcot-Marie-Tooth disease type 2E"}
{"db":"OMIM","id":"606595","name":"Charcot-Marie-Tooth disease type 2F"}
{"db":"OMIM","id":"607677","name":"Charcot-Marie-Tooth disease type 2I"}
{"db":"OMIM","id":"607736","name":"Charcot-Marie-Tooth disease type 2J"}
{"db":"OMIM","id":"607831","name":"Charcot-Marie-Tooth disease type 2K"}
{"db":"OMIM","id":"614436","name":"Charcot-Marie-Tooth disease type 2P"}
{"db":"OMIM","id":"614228","name":"Charcot-Marie-Tooth disease, axonal, type 2O"}
{"db":"OMIM","id":"615025","name":"Charcot-Marie-Tooth disease, axonal, type 2Q"}
{"db":"OMIM","id":"615490","name":"Charcot-Marie-Tooth disease, axonal, type 2r"}
{"db":"OMIM","id":"616155","name":"Charcot-Marie-Tooth disease, axonal, type 2s"}
{"db":"OMIM","id":"607706","name":"Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive"}
{"db":"OMIM","id":"608323","name":"Charcot-Marie-Tooth disease, dominant intermediate C"}
{"db":"OMIM","id":"614455","name":"Charcot-Marie-Tooth disease, dominant intermediate E"}
{"db":"OMIM","id":"615185","name":"Charcot-Marie-Tooth disease, dominant intermediate F"}
{"db":"OMIM","id":"608340","name":"Charcot-Marie-Tooth disease, recessive intermediate A"}
{"db":"OMIM","id":"613641","name":"Charcot-Marie-Tooth disease, recessive intermediate B"}
{"db":"OMIM","id":"615376","name":"Charcot-Marie-Tooth disease, recessive intermediate c"}
{"db":"OMIM","id":"616039","name":"Charcot-Marie-Tooth disease, recessive intermediate d"}
{"db":"OMIM","id":"118210","name":"Charcot-Marie-Tooth disease, type 2A1"}
{"db":"OMIM","id":"609260","name":"Charcot-Marie-Tooth disease, type 2A2"}
{"db":"OMIM","id":"608673","name":"Charcot-Marie-Tooth disease, type 2L"}
{"db":"OMIM","id":"613287","name":"Charcot-Marie-Tooth disease, type 2N"}
{"db":"OMIM","id":"601382","name":"Charcot-Marie-Tooth disease, type 4B1"}
{"db":"OMIM","id":"604563","name":"Charcot-Marie-Tooth disease, type 4B2"}
{"db":"OMIM","id":"615284","name":"Charcot-Marie-Tooth disease, type 4B3"}
{"db":"OMIM","id":"601596","name":"Charcot-Marie-Tooth disease, type 4C"}
{"db":"OMIM","id":"601455","name":"Charcot-Marie-Tooth disease, type 4D"}
{"db":"OMIM","id":"605285","name":"Charcot-Marie-Tooth disease, type 4G"}
{"db":"OMIM","id":"609311","name":"Charcot-Marie-Tooth disease, type 4H"}
{"db":"OMIM","id":"611228","name":"Charcot-Marie-Tooth disease, type 4J"}
{"db":"OMIM","id":"118220","name":"Charcot-Marie-Tooth disease, type IA"}
{"db":"OMIM","id":"118200","name":"Charcot-Marie-Tooth disease, type IB"}
{"db":"OMIM","id":"601098","name":"Charcot-Marie-Tooth disease, type IC"}
{"db":"OMIM","id":"607678","name":"Charcot-Marie-Tooth disease, type ID"}
{"db":"OMIM","id":"118300","name":"Charcot-Marie-Tooth disease, type IE"}
{"db":"OMIM","id":"607734","name":"Charcot-Marie-Tooth disease, type IF"}
{"db":"OMIM","id":"614895","name":"Charcot-Marie-Tooth disease, type IVF"}
{"db":"OMIM","id":"300905","name":"Charcot-Marie-Tooth disease, X-linked dominant, 6"}
{"db":"OMIM","id":"310490","name":"Charcot-Marie-Tooth disease, X-linked recessive, type 4"}
{"db":"OMIM","id":"311070","name":"Charcot-Marie-Tooth disease, X-linked recessive, type 5"}
{"db":"OMIM","id":"214800","name":"CHARGE association"}
{"db":"OMIM","id":"610448","name":"Chilbain lupus 1"}
{"db":"OMIM","id":"614415","name":"Chilblain lupus 2"}
{"db":"OMIM","id":"308050","name":"Child syndrome"}
{"db":"OMIM","id":"241510","name":"Childhood hypophosphatasia"}
{"db":"OMIM","id":"613611","name":"Choanal atresia and lymphedema"}
{"db":"OMIM","id":"600803","name":"Cholecystitis"}
{"db":"OMIM","id":"213700","name":"Cholestanol storage disease"}
{"db":"OMIM","id":"147480","name":"Cholestasis of pregnancy"}
{"db":"OMIM","id":"614972","name":"Cholestasis, intrahepatic, of pregnancy 3"}
{"db":"OMIM","id":"201710","name":"Cholesterol monooxygenase (side-chain cleaving) deficiency"}
{"db":"OMIM","id":"118600","name":"Chondrocalcinosis 2"}
{"db":"OMIM","id":"609441","name":"Chondrodysplasia acromesomelic with genital anomalies"}
{"db":"OMIM","id":"215045","name":"Chondrodysplasia Blomstrand type"}
{"db":"OMIM","id":"302950","name":"Chondrodysplasia punctata 1, X-linked recessive"}
{"db":"OMIM","id":"302960","name":"Chondrodysplasia punctata 2 X-linked dominant"}
{"db":"OMIM","id":"614078","name":"Chondrodysplasia with joint dislocations, GPAPP type"}
{"db":"OMIM","id":"300863","name":"Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia"}
{"db":"OMIM","id":"225500","name":"Chondroectodermal dysplasia"}
{"db":"OMIM","id":"200150","name":"Choreoacanthocytosis"}
{"db":"OMIM","id":"610978","name":"Choreoathetosis, hypothyroidism, and neonatal respiratory distress"}
{"db":"OMIM","id":"601042","name":"Choreoathetosis/spasticity, episodic"}
{"db":"OMIM","id":"260500","name":"Choroid plexus papilloma"}
{"db":"OMIM","id":"613105","name":"Choroidal dystrophy, central areolar 2"}
{"db":"OMIM","id":"303100","name":"Choroideremia"}
{"db":"OMIM","id":"300243","name":"Christianson syndrome"}
{"db":"OMIM","id":"612337","name":"Chromosome 1q43-q44 deletion syndrome"}
{"db":"OMIM","id":"612313","name":"Chromosome 2q32-q33 deletion syndrome"}
{"db":"OMIM","id":"610253","name":"Chromosome 9q deletion syndrome"}
{"db":"OMIM","id":"300475","name":"Chromosome Xq28 deletion syndrome"}
{"db":"OMIM","id":"616201","name":"Chronic atrial and intestinal dysrhythmia"}
{"db":"OMIM","id":"233700","name":"Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 1"}
{"db":"OMIM","id":"233710","name":"Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 2"}
{"db":"OMIM","id":"613960","name":"Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 3"}
{"db":"OMIM","id":"306400","name":"Chronic granulomatous disease, X-linked"}
{"db":"OMIM","id":"607115","name":"Chronic infantile neurological, cutaneous and articular syndrome"}
{"db":"OMIM","id":"604213","name":"Chudley-McCullough syndrome"}
{"db":"OMIM","id":"246700","name":"Chylomicron retention disease"}
{"db":"OMIM","id":"612518","name":"Ciliary dyskinesia, primary, 10"}
{"db":"OMIM","id":"612649","name":"Ciliary dyskinesia, primary, 11"}
{"db":"OMIM","id":"612650","name":"Ciliary dyskinesia, primary, 12"}
{"db":"OMIM","id":"613193","name":"Ciliary dyskinesia, primary, 13"}
{"db":"OMIM","id":"613807","name":"Ciliary dyskinesia, primary, 14"}
{"db":"OMIM","id":"613808","name":"Ciliary dyskinesia, primary, 15"}
{"db":"OMIM","id":"614017","name":"Ciliary dyskinesia, primary, 16"}
{"db":"OMIM","id":"614679","name":"Ciliary dyskinesia, primary, 17"}
{"db":"OMIM","id":"614874","name":"Ciliary dyskinesia, primary, 18"}
{"db":"OMIM","id":"614935","name":"Ciliary dyskinesia, primary, 19"}
{"db":"OMIM","id":"606763","name":"Ciliary dyskinesia, primary, 2"}
{"db":"OMIM","id":"615067","name":"Ciliary dyskinesia, primary, 20"}
{"db":"OMIM","id":"615294","name":"Ciliary dyskinesia, primary, 21"}
{"db":"OMIM","id":"615444","name":"Ciliary dyskinesia, primary, 22"}
{"db":"OMIM","id":"615500","name":"Ciliary dyskinesia, primary, 26"}
{"db":"OMIM","id":"615504","name":"Ciliary dyskinesia, primary, 27"}
{"db":"OMIM","id":"615505","name":"Ciliary dyskinesia, primary, 28"}
{"db":"OMIM","id":"615872","name":"Ciliary dyskinesia, primary, 29"}
{"db":"OMIM","id":"608644","name":"Ciliary dyskinesia, primary, 3"}
{"db":"OMIM","id":"616037","name":"Ciliary dyskinesia, primary, 30"}
{"db":"OMIM","id":"608647","name":"Ciliary dyskinesia, primary, 5"}
{"db":"OMIM","id":"610852","name":"Ciliary dyskinesia, primary, 6"}
{"db":"OMIM","id":"611884","name":"Ciliary dyskinesia, primary, 7"}
{"db":"OMIM","id":"612444","name":"Ciliary dyskinesia, primary, 9"}
{"db":"OMIM","id":"215700","name":"Citrullinemia type I"}
{"db":"OMIM","id":"603471","name":"Citrullinemia type II"}
{"db":"OMIM","id":"225060","name":"Cleft lip/palate-ectodermal dysplasia syndrome"}
{"db":"OMIM","id":"303400","name":"Cleft palate X-linked"}
{"db":"OMIM","id":"119600","name":"Cleidocranial dysostosis"}
{"db":"OMIM","id":"216360","name":"COACH syndrome"}
{"db":"OMIM","id":"216400","name":"Cockayne syndrome type A"}
{"db":"OMIM","id":"133540","name":"Cockayne syndrome, type B"}
{"db":"OMIM","id":"613630","name":"Cocoon syndrome"}
{"db":"OMIM","id":"600373","name":"CODAS syndrome"}
{"db":"OMIM","id":"607426","name":"Coenzyme Q10 deficiency, primary 1"}
{"db":"OMIM","id":"614651","name":"Coenzyme Q10 deficiency, primary, 2"}
{"db":"OMIM","id":"614652","name":"Coenzyme Q10 deficiency, primary, 3"}
{"db":"OMIM","id":"612016","name":"Coenzyme Q10 deficiency, primary, 4"}
{"db":"OMIM","id":"614654","name":"Coenzyme Q10 deficiency, primary, 5"}
{"db":"OMIM","id":"614650","name":"Coenzyme Q10 deficiency, primary, 6"}
{"db":"OMIM","id":"303600","name":"Coffin-Lowry syndrome"}
{"db":"OMIM","id":"614306","name":"Cognitive impairment with or without cerebellar ataxia"}
{"db":"OMIM","id":"216550","name":"Cohen syndrome"}
{"db":"OMIM","id":"272430","name":"Cold-induced sweating syndrome 1"}
{"db":"OMIM","id":"610313","name":"Cold-induced sweating syndrome 2"}
{"db":"OMIM","id":"615522","name":"Cole disease"}
{"db":"OMIM","id":"120430","name":"Coloboma of optic disc"}
{"db":"OMIM","id":"120433","name":"Coloboma, uveal, with cleft lip and palate and mental retardation"}
{"db":"OMIM","id":"303800","name":"Colorblindness, partial, deutan series"}
{"db":"OMIM","id":"233650","name":"Combined cellular and humoral immune defects with granulomas"}
{"db":"OMIM","id":"615182","name":"Combined d-2- and l-2-hydroxyglutaric aciduria"}
{"db":"OMIM","id":"227300","name":"Combined deficiency of factor V and factor VIII, 1"}
{"db":"OMIM","id":"256540","name":"Combined deficiency of sialidase AND beta galactosidase"}
{"db":"OMIM","id":"312863","name":"Combined immunodeficiency, X-linked"}
{"db":"OMIM","id":"614265","name":"Combined malonic and methylmalonic aciduria"}
{"db":"OMIM","id":"609060","name":"Combined oxidative phosphorylation deficiency 1"}
{"db":"OMIM","id":"614702","name":"Combined oxidative phosphorylation deficiency 10"}
{"db":"OMIM","id":"614922","name":"Combined oxidative phosphorylation deficiency 11"}
{"db":"OMIM","id":"614924","name":"Combined oxidative phosphorylation deficiency 12"}
{"db":"OMIM","id":"614932","name":"Combined oxidative phosphorylation deficiency 13"}
{"db":"OMIM","id":"614946","name":"Combined oxidative phosphorylation deficiency 14"}
{"db":"OMIM","id":"614947","name":"Combined oxidative phosphorylation deficiency 15"}
{"db":"OMIM","id":"615395","name":"Combined oxidative phosphorylation deficiency 16"}
{"db":"OMIM","id":"615440","name":"Combined oxidative phosphorylation deficiency 17"}
{"db":"OMIM","id":"615578","name":"Combined oxidative phosphorylation deficiency 18"}
{"db":"OMIM","id":"615595","name":"Combined oxidative phosphorylation deficiency 19"}
{"db":"OMIM","id":"610498","name":"Combined oxidative phosphorylation deficiency 2"}
{"db":"OMIM","id":"615917","name":"Combined oxidative phosphorylation deficiency 20"}
{"db":"OMIM","id":"615918","name":"Combined oxidative phosphorylation deficiency 21"}
{"db":"OMIM","id":"616045","name":"Combined oxidative phosphorylation deficiency 22"}
{"db":"OMIM","id":"616198","name":"Combined oxidative phosphorylation deficiency 23"}
{"db":"OMIM","id":"610505","name":"Combined oxidative phosphorylation deficiency 3"}
{"db":"OMIM","id":"610678","name":"Combined oxidative phosphorylation deficiency 4"}
{"db":"OMIM","id":"611719","name":"Combined oxidative phosphorylation deficiency 5"}
{"db":"OMIM","id":"300816","name":"Combined oxidative phosphorylation deficiency 6"}
{"db":"OMIM","id":"613559","name":"Combined oxidative phosphorylation deficiency 7"}
{"db":"OMIM","id":"614096","name":"Combined oxidative phosphorylation deficiency 8"}
{"db":"OMIM","id":"614582","name":"Combined oxidative phosphorylation deficiency 9"}
{"db":"OMIM","id":"611721","name":"Combined saposin deficiency"}
{"db":"OMIM","id":"607594","name":"Common variable immunodeficiency 1"}
{"db":"OMIM","id":"615577","name":"Common variable immunodeficiency 10"}
{"db":"OMIM","id":"615767","name":"Common variable immunodeficiency 11"}
{"db":"OMIM","id":"240500","name":"Common variable immunodeficiency 2"}
{"db":"OMIM","id":"613493","name":"Common variable immunodeficiency 3"}
{"db":"OMIM","id":"613494","name":"Common variable immunodeficiency 4"}
{"db":"OMIM","id":"613495","name":"Common variable immunodeficiency 5"}
{"db":"OMIM","id":"614699","name":"Common variable immunodeficiency 7"}
{"db":"OMIM","id":"614700","name":"Common variable immunodeficiency 8, with autoimmunity"}
{"db":"OMIM","id":"615559","name":"Common variable immunodeficiency 9"}
{"db":"OMIM","id":"612446","name":"Complement component 6 deficiency"}
{"db":"OMIM","id":"610102","name":"Complement component 7 deficiency"}
{"db":"OMIM","id":"613790","name":"Complement component 8 deficiency type 1"}
{"db":"OMIM","id":"613789","name":"Complement component 8 deficiency type 2"}
{"db":"OMIM","id":"613825","name":"Complement component 9 deficiency"}
{"db":"OMIM","id":"613912","name":"Complement factor d deficiency"}
{"db":"OMIM","id":"115080","name":"Conduction disorder of the heart"}
{"db":"OMIM","id":"602093","name":"Cone dystrophy 3"}
{"db":"OMIM","id":"613093","name":"Cone dystrophy 4"}
{"db":"OMIM","id":"303700","name":"Cone monochromatism"}
{"db":"OMIM","id":"610283","name":"Cone-rod dystrophy 10"}
{"db":"OMIM","id":"610381","name":"Cone-rod dystrophy 11"}
{"db":"OMIM","id":"612657","name":"Cone-rod dystrophy 12"}
{"db":"OMIM","id":"608194","name":"Cone-rod dystrophy 13"}
{"db":"OMIM","id":"613660","name":"Cone-rod dystrophy 15"}
{"db":"OMIM","id":"614500","name":"Cone-rod dystrophy 16"}
{"db":"OMIM","id":"615374","name":"Cone-rod dystrophy 18"}
{"db":"OMIM","id":"615860","name":"Cone-rod dystrophy 19"}
{"db":"OMIM","id":"120970","name":"Cone-rod dystrophy 2"}
{"db":"OMIM","id":"615973","name":"Cone-rod dystrophy 20"}
{"db":"OMIM","id":"604116","name":"Cone-rod dystrophy 3"}
{"db":"OMIM","id":"600977","name":"Cone-rod dystrophy 5"}
{"db":"OMIM","id":"601777","name":"Cone-rod dystrophy 6"}
{"db":"OMIM","id":"603649","name":"Cone-rod dystrophy 7"}
{"db":"OMIM","id":"612775","name":"Cone-rod dystrophy 9"}
{"db":"OMIM","id":"217080","name":"Cone-rod dystrophy amelogenesis imperfecta"}
{"db":"OMIM","id":"300476","name":"Cone-rod dystrophy X-linked 3"}
{"db":"OMIM","id":"304020","name":"Cone-rod dystrophy, X-linked 1"}
{"db":"OMIM","id":"180920","name":"Congenital absence of salivary gland"}
{"db":"OMIM","id":"300200","name":"Congenital adrenal hypoplasia, X-linked"}
{"db":"OMIM","id":"604498","name":"Congenital amegakaryocytic thrombocytopenia"}
{"db":"OMIM","id":"106210","name":"Congenital aniridia"}
{"db":"OMIM","id":"277180","name":"Congenital bilateral absence of the vas deferens"}
{"db":"OMIM","id":"604168","name":"Congenital Cataracts, Facial Dysmorphism, and Neuropathy"}
{"db":"OMIM","id":"614482","name":"Congenital cataracts, hearing loss, and neurodegeneration"}
{"db":"OMIM","id":"209880","name":"Congenital central hypoventilation"}
{"db":"OMIM","id":"121050","name":"Congenital contractural arachnodactyly"}
{"db":"OMIM","id":"174050","name":"Congenital cystic disease of liver"}
{"db":"OMIM","id":"229050","name":"Congenital defect of folate absorption"}
{"db":"OMIM","id":"602579","name":"Congenital disorder of glycosylation type 1B"}
{"db":"OMIM","id":"603147","name":"Congenital disorder of glycosylation type 1C"}
{"db":"OMIM","id":"601110","name":"Congenital disorder of glycosylation type 1D"}
{"db":"OMIM","id":"608799","name":"Congenital disorder of glycosylation type 1E"}
{"db":"OMIM","id":"609180","name":"Congenital disorder of glycosylation type 1F"}
{"db":"OMIM","id":"607143","name":"Congenital disorder of glycosylation type 1G"}
{"db":"OMIM","id":"608104","name":"Congenital disorder of glycosylation type 1H"}
{"db":"OMIM","id":"607906","name":"Congenital disorder of glycosylation type 1I"}
{"db":"OMIM","id":"608093","name":"Congenital disorder of glycosylation type 1J"}
{"db":"OMIM","id":"608540","name":"Congenital disorder of glycosylation type 1K"}
{"db":"OMIM","id":"608776","name":"Congenital disorder of glycosylation type 1L"}
{"db":"OMIM","id":"610768","name":"Congenital disorder of glycosylation type 1M"}
{"db":"OMIM","id":"612015","name":"Congenital disorder of glycosylation type 1N"}
{"db":"OMIM","id":"612937","name":"Congenital disorder of glycosylation type 1O"}
{"db":"OMIM","id":"613661","name":"Congenital disorder of glycosylation type 1P"}
{"db":"OMIM","id":"612379","name":"Congenital disorder of glycosylation type 1Q"}
{"db":"OMIM","id":"300884","name":"Congenital disorder of glycosylation type 1s"}
{"db":"OMIM","id":"614921","name":"Congenital disorder of glycosylation type 1t"}
{"db":"OMIM","id":"615042","name":"Congenital disorder of glycosylation type 1u"}
{"db":"OMIM","id":"615273","name":"Congenital disorder of glycosylation type 1v"}
{"db":"OMIM","id":"300934","name":"Congenital disorder of glycosylation type 1y"}
{"db":"OMIM","id":"606056","name":"Congenital disorder of glycosylation type 2B"}
{"db":"OMIM","id":"266265","name":"Congenital disorder of glycosylation type 2C"}
{"db":"OMIM","id":"607091","name":"Congenital disorder of glycosylation type 2D"}
{"db":"OMIM","id":"608779","name":"Congenital disorder of glycosylation type 2E"}
{"db":"OMIM","id":"603585","name":"Congenital disorder of glycosylation type 2F"}
{"db":"OMIM","id":"611209","name":"Congenital disorder of glycosylation type 2G"}
{"db":"OMIM","id":"611182","name":"Congenital disorder of glycosylation type 2H"}
{"db":"OMIM","id":"613612","name":"Congenital disorder of glycosylation type 2i"}
{"db":"OMIM","id":"613489","name":"Congenital disorder of glycosylation type 2J"}
{"db":"OMIM","id":"614727","name":"Congenital disorder of glycosylation type 2k"}
{"db":"OMIM","id":"614576","name":"Congenital disorder of glycosylation type 2L"}
{"db":"OMIM","id":"615597","name":"Congenital disorder of glycosylation type Ix"}
{"db":"OMIM","id":"300896","name":"CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm"}
{"db":"OMIM","id":"615596","name":"CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw"}
{"db":"OMIM","id":"224120","name":"Congenital dyserythropoietic anemia, type I"}
{"db":"OMIM","id":"224100","name":"Congenital dyserythropoietic anemia, type II"}
{"db":"OMIM","id":"227260","name":"Congenital ectodermal dysplasia of face"}
{"db":"OMIM","id":"263700","name":"Congenital erythropoietic porphyria"}
{"db":"OMIM","id":"608594","name":"Congenital generalized lipodystrophy type 1"}
{"db":"OMIM","id":"269700","name":"Congenital generalized lipodystrophy type 2"}
{"db":"OMIM","id":"606824","name":"Congenital glucose-galactose malabsorption"}
{"db":"OMIM","id":"615779","name":"Congenital heart defects, multiple types, 4"}
{"db":"OMIM","id":"614980","name":"Congenital heart disease, multiple types, 2"}
{"db":"OMIM","id":"237300","name":"Congenital hyperammonemia, type I"}
{"db":"OMIM","id":"223000","name":"Congenital lactase deficiency"}
{"db":"OMIM","id":"251850","name":"Congenital microvillous atrophy"}
{"db":"OMIM","id":"613205","name":"Congenital muscular dystrophy, LMNA-related"}
{"db":"OMIM","id":"613153","name":"Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5"}
{"db":"OMIM","id":"615041","name":"Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A10"}
{"db":"OMIM","id":"615181","name":"Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A11"}
{"db":"OMIM","id":"615249","name":"Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A12"}
{"db":"OMIM","id":"615287","name":"Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A13"}
{"db":"OMIM","id":"615350","name":"Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A14"}
{"db":"OMIM","id":"613150","name":"Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2"}
{"db":"OMIM","id":"613154","name":"Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6"}
{"db":"OMIM","id":"614643","name":"Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7"}
{"db":"OMIM","id":"614830","name":"Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A8"}
{"db":"OMIM","id":"613155","name":"Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1"}
{"db":"OMIM","id":"615351","name":"Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B14"}
{"db":"OMIM","id":"613156","name":"Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2"}
{"db":"OMIM","id":"613151","name":"Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3"}
{"db":"OMIM","id":"608840","name":"Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6"}
{"db":"OMIM","id":"613152","name":"Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B4"}
{"db":"OMIM","id":"300590","name":"Congenital muscular hypertrophy-cerebral syndrome"}
{"db":"OMIM","id":"610542","name":"Congenital myasthenic syndrome with tubular aggregates 1"}
{"db":"OMIM","id":"614198","name":"Congenital myasthenic syndrome, acetazolamide-responsive"}
{"db":"OMIM","id":"255310","name":"Congenital myopathy with fiber type disproportion"}
{"db":"OMIM","id":"160800","name":"Congenital myotonia, autosomal dominant form"}
{"db":"OMIM","id":"255700","name":"Congenital myotonia, autosomal recessive form"}
{"db":"OMIM","id":"120200","name":"Congenital ocular coloboma"}
{"db":"OMIM","id":"614507","name":"Congenital order of glycosylation type 1r"}
{"db":"OMIM","id":"214700","name":"Congenital secretory diarrhea, chloride type"}
{"db":"OMIM","id":"608654","name":"Congenital sensory neuropathy with selective loss of small myelinated fibers"}
{"db":"OMIM","id":"610445","name":"Congenital stationary night blindness, autosomal dominant 1"}
{"db":"OMIM","id":"163500","name":"Congenital stationary night blindness, autosomal dominant 2"}
{"db":"OMIM","id":"610444","name":"Congenital stationary night blindness, autosomal dominant 3"}
{"db":"OMIM","id":"310500","name":"Congenital stationary night blindness, type 1A"}
{"db":"OMIM","id":"257270","name":"Congenital stationary night blindness, type 1B"}
{"db":"OMIM","id":"613216","name":"Congenital stationary night blindness, type 1C"}
{"db":"OMIM","id":"613830","name":"Congenital stationary night blindness, type 1D"}
{"db":"OMIM","id":"614565","name":"Congenital stationary night blindness, type 1E"}
{"db":"OMIM","id":"615058","name":"Congenital stationary night blindness, type 1F"}
{"db":"OMIM","id":"300071","name":"Congenital stationary night blindness, type 2A"}
{"db":"OMIM","id":"610427","name":"Congenital stationary night blindness, type 2B"}
{"db":"OMIM","id":"610048","name":"Congenital Stromal Corneal Dystrophy"}
{"db":"OMIM","id":"217095","name":"Conotruncal heart malformations"}
{"db":"OMIM","id":"217300","name":"Cornea plana 2"}
{"db":"OMIM","id":"217400","name":"Corneal dystrophy and perceptive deafness"}
{"db":"OMIM","id":"136800","name":"Corneal dystrophy, Fuchs endothelial 1"}
{"db":"OMIM","id":"613268","name":"Corneal dystrophy, Fuchs endothelial, 4"}
{"db":"OMIM","id":"613270","name":"Corneal dystrophy, Fuchs endothelial, 6"}
{"db":"OMIM","id":"615523","name":"Corneal dystrophy, Fuchs endothelial, 8"}
{"db":"OMIM","id":"609140","name":"Corneal dystrophy, posterior polymorphous, 2"}
{"db":"OMIM","id":"609141","name":"Corneal dystrophy, posterior polymorphous, 3"}
{"db":"OMIM","id":"217700","name":"Corneal endothelial dystrophy type 2"}
{"db":"OMIM","id":"121820","name":"Corneal epithelial dystrophy"}
{"db":"OMIM","id":"229200","name":"Corneal fragility keratoglobus, blue sclerae AND joint hypermobility"}
{"db":"OMIM","id":"615225","name":"Corneal intraepithelial dyskeratosis and ectodermal dysplasia"}
{"db":"OMIM","id":"122470","name":"Cornelia de Lange syndrome 1"}
{"db":"OMIM","id":"610759","name":"Cornelia de Lange syndrome 3"}
{"db":"OMIM","id":"614701","name":"Cornelia de Lange syndrome 4"}
{"db":"OMIM","id":"300882","name":"Cornelia de Lange syndrome 5"}
{"db":"OMIM","id":"610947","name":"Coronary artery disease, autosomal dominant 2"}
{"db":"OMIM","id":"608320","name":"Coronary artery disease, autosomal dominant, 1"}
{"db":"OMIM","id":"300472","name":"Corpus callosum, agenesis of, with mental retardation, ocular coloboma, and micrognathia"}
{"db":"OMIM","id":"304100","name":"Corpus callosum, partial agenesis of, X-linked"}
{"db":"OMIM","id":"614039","name":"Cortical dysplasia, complex, with other brain malformations 1"}
{"db":"OMIM","id":"615282","name":"Cortical dysplasia, complex, with other brain malformations 2"}
{"db":"OMIM","id":"615411","name":"Cortical dysplasia, complex, with other brain malformations 3"}
{"db":"OMIM","id":"615412","name":"Cortical dysplasia, complex, with other brain malformations 4"}
{"db":"OMIM","id":"615763","name":"Cortical dysplasia, complex, with other brain malformations 5"}
{"db":"OMIM","id":"615771","name":"Cortical dysplasia, complex, with other brain malformations 6"}
{"db":"OMIM","id":"610042","name":"Cortical dysplasia-focal epilepsy syndrome"}
{"db":"OMIM","id":"614115","name":"Cortical malformations, occipital"}
{"db":"OMIM","id":"611489","name":"Corticosteroid-binding globulin deficiency"}
{"db":"OMIM","id":"203400","name":"Corticosterone methyloxidase type 1 deficiency"}
{"db":"OMIM","id":"610600","name":"Corticosterone methyloxidase type 2 deficiency"}
{"db":"OMIM","id":"604931","name":"Cortisone reductase deficiency 1"}
{"db":"OMIM","id":"614662","name":"Cortisone reductase deficiency 2"}
{"db":"OMIM","id":"218040","name":"Costello syndrome"}
{"db":"OMIM","id":"260660","name":"Cousin syndrome"}
{"db":"OMIM","id":"158350","name":"Cowden syndrome 1"}
{"db":"OMIM","id":"612359","name":"Cowden syndrome 2"}
{"db":"OMIM","id":"150600","name":"Coxa plana"}
{"db":"OMIM","id":"122860","name":"Craniodiaphyseal dysplasia, autosomal dominant"}
{"db":"OMIM","id":"218330","name":"Cranioectodermal dysplasia 1"}
{"db":"OMIM","id":"613610","name":"Cranioectodermal dysplasia 2"}
{"db":"OMIM","id":"614099","name":"Cranioectodermal dysplasia 3"}
{"db":"OMIM","id":"614378","name":"Cranioectodermal dysplasia 4"}
{"db":"OMIM","id":"614195","name":"Craniofacial anomalies and anterior segment dysgenesis syndrome"}
{"db":"OMIM","id":"122880","name":"Craniofacial deafness hand syndrome"}
{"db":"OMIM","id":"213980","name":"Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome"}
{"db":"OMIM","id":"614132","name":"Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome"}
{"db":"OMIM","id":"304110","name":"Craniofrontonasal dysplasia"}
{"db":"OMIM","id":"607812","name":"Craniolenticulosutural dysplasia"}
{"db":"OMIM","id":"123000","name":"Craniometaphyseal dysplasia, autosomal dominant"}
{"db":"OMIM","id":"123100","name":"Craniosynostosis 1"}
{"db":"OMIM","id":"604757","name":"Craniosynostosis 2"}
{"db":"OMIM","id":"615314","name":"Craniosynostosis 3"}
{"db":"OMIM","id":"600775","name":"Craniosynostosis 4"}
{"db":"OMIM","id":"614188","name":"Craniosynostosis and dental anomalies"}
{"db":"OMIM","id":"300352","name":"Creatine deficiency, X-linked"}
{"db":"OMIM","id":"123320","name":"Creatine phosphokinase, elevated serum"}
{"db":"OMIM","id":"606785","name":"Crigler-Najjar syndrome, type II"}
{"db":"OMIM","id":"123500","name":"Crouzon syndrome"}
{"db":"OMIM","id":"612247","name":"Crouzon syndrome with acanthosis nigricans"}
{"db":"OMIM","id":"219000","name":"Cryptophthalmos syndrome"}
{"db":"OMIM","id":"219050","name":"Cryptorchidism, unilateral or bilateral"}
{"db":"OMIM","id":"176450","name":"Currarino triad"}
{"db":"OMIM","id":"193530","name":"Curry-Hall syndrome"}
{"db":"OMIM","id":"185800","name":"Cushing's symphalangism"}
{"db":"OMIM","id":"614564","name":"Cutaneous telangiectasia and cancer syndrome, familial"}
{"db":"OMIM","id":"123790","name":"Cutis Gyrata syndrome of Beare and Stevenson"}
{"db":"OMIM","id":"219200","name":"Cutis laxa with osteodystrophy"}
{"db":"OMIM","id":"613177","name":"Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities"}
{"db":"OMIM","id":"123700","name":"Cutis laxa, autosomal dominant"}
{"db":"OMIM","id":"614434","name":"Cutis laxa, autosomal dominant 2"}
{"db":"OMIM","id":"304150","name":"Cutis laxa, X-linked"}
{"db":"OMIM","id":"219150","name":"Cutis laxa-corneal clouding-oligophrenia syndrome"}
{"db":"OMIM","id":"613977","name":"Cyanosis, transient neonatal"}
{"db":"OMIM","id":"162800","name":"Cyclical neutropenia"}
{"db":"OMIM","id":"132700","name":"Cylindromatosis, familial"}
{"db":"OMIM","id":"219500","name":"Cystathioninuria"}
{"db":"OMIM","id":"219700","name":"Cystic fibrosis"}
{"db":"OMIM","id":"219800","name":"Cystinosis"}
{"db":"OMIM","id":"219750","name":"Cystinosis, ocular nonnephropathic"}
{"db":"OMIM","id":"220100","name":"Cystinuria"}
{"db":"OMIM","id":"220110","name":"Cytochrome-c oxidase deficiency"}
{"db":"OMIM","id":"609162","name":"Czech dysplasia metatarsal type"}
{"db":"OMIM","id":"600721","name":"D-2-hydroxyglutaric aciduria 1"}
{"db":"OMIM","id":"613657","name":"D-2-hydroxyglutaric aciduria 2"}
{"db":"OMIM","id":"220210","name":"Dandy-Walker like malformation with atrioventricular septal defect"}
{"db":"OMIM","id":"300257","name":"Danon disease"}
{"db":"OMIM","id":"278800","name":"De Sanctis-Cacchione syndrome"}
{"db":"OMIM","id":"610706","name":"Deafness with labyrinthine aplasia microtia and microdontia (LAMM)"}
{"db":"OMIM","id":"124900","name":"Deafness, autosomal dominant 1"}
{"db":"OMIM","id":"601316","name":"Deafness, autosomal dominant 10"}
{"db":"OMIM","id":"601317","name":"Deafness, autosomal dominant 11"}
{"db":"OMIM","id":"601543","name":"Deafness, autosomal dominant 12"}
{"db":"OMIM","id":"601868","name":"Deafness, autosomal dominant 13"}
{"db":"OMIM","id":"602459","name":"Deafness, autosomal dominant 15"}
{"db":"OMIM","id":"604717","name":"Deafness, autosomal dominant 20"}
{"db":"OMIM","id":"606346","name":"Deafness, autosomal dominant 22"}
{"db":"OMIM","id":"605192","name":"Deafness, autosomal dominant 23"}
{"db":"OMIM","id":"605583","name":"Deafness, autosomal dominant 25"}
{"db":"OMIM","id":"608641","name":"Deafness, autosomal dominant 28"}
{"db":"OMIM","id":"612644","name":"Deafness, autosomal dominant 2b"}
{"db":"OMIM","id":"606705","name":"Deafness, autosomal dominant 36"}
{"db":"OMIM","id":"601544","name":"Deafness, autosomal dominant 3a"}
{"db":"OMIM","id":"612643","name":"Deafness, autosomal dominant 3b"}
{"db":"OMIM","id":"600652","name":"Deafness, autosomal dominant 4"}
{"db":"OMIM","id":"608224","name":"Deafness, autosomal dominant 41"}
{"db":"OMIM","id":"607453","name":"Deafness, autosomal dominant 44"}
{"db":"OMIM","id":"607841","name":"Deafness, autosomal dominant 48"}
{"db":"OMIM","id":"614614","name":"Deafness, autosomal dominant 4b"}
{"db":"OMIM","id":"600994","name":"Deafness, autosomal dominant 5"}
{"db":"OMIM","id":"613074","name":"Deafness, autosomal dominant 50"}
{"db":"OMIM","id":"615629","name":"Deafness, autosomal dominant 56"}
{"db":"OMIM","id":"614152","name":"Deafness, autosomal dominant 64"}
{"db":"OMIM","id":"601369","name":"Deafness, autosomal dominant 9"}
{"db":"OMIM","id":"603622","name":"Deafness, autosomal dominant nonsyndromic sensorineural 17"}
{"db":"OMIM","id":"615837","name":"Deafness, autosomal recessive 101"}
{"db":"OMIM","id":"615974","name":"Deafness, autosomal recessive 102"}
{"db":"OMIM","id":"616042","name":"Deafness, autosomal recessive 103"}
{"db":"OMIM","id":"601386","name":"Deafness, autosomal recessive 12"}
{"db":"OMIM","id":"601869","name":"Deafness, autosomal recessive 15"}
{"db":"OMIM","id":"603720","name":"Deafness, autosomal recessive 16"}
{"db":"OMIM","id":"602092","name":"Deafness, autosomal recessive 18"}
{"db":"OMIM","id":"614945","name":"Deafness, autosomal recessive 18b"}
{"db":"OMIM","id":"220290","name":"Deafness, autosomal recessive 1A"}
{"db":"OMIM","id":"612645","name":"Deafness, autosomal recessive 1b"}
{"db":"OMIM","id":"600060","name":"Deafness, autosomal recessive 2"}
{"db":"OMIM","id":"607039","name":"Deafness, autosomal recessive 22"}
{"db":"OMIM","id":"609533","name":"Deafness, autosomal recessive 23"}
{"db":"OMIM","id":"611022","name":"Deafness, autosomal recessive 24"}
{"db":"OMIM","id":"613285","name":"Deafness, autosomal recessive 25"}
{"db":"OMIM","id":"609823","name":"Deafness, autosomal recessive 28"}
{"db":"OMIM","id":"614035","name":"Deafness, autosomal recessive 29"}
{"db":"OMIM","id":"600316","name":"Deafness, autosomal recessive 3"}
{"db":"OMIM","id":"607101","name":"Deafness, autosomal recessive 30"}
{"db":"OMIM","id":"607084","name":"Deafness, autosomal recessive 31"}
{"db":"OMIM","id":"608565","name":"Deafness, autosomal recessive 35"}
{"db":"OMIM","id":"609006","name":"Deafness, autosomal recessive 36, with or without vestibular involvement"}
{"db":"OMIM","id":"607821","name":"Deafness, autosomal recessive 37"}
{"db":"OMIM","id":"608265","name":"Deafness, autosomal recessive 39"}
{"db":"OMIM","id":"609646","name":"Deafness, autosomal recessive 42"}
{"db":"OMIM","id":"610154","name":"Deafness, autosomal recessive 44"}
{"db":"OMIM","id":"609439","name":"Deafness, autosomal recessive 48"}
{"db":"OMIM","id":"610153","name":"Deafness, autosomal recessive 49"}
{"db":"OMIM","id":"609706","name":"Deafness, autosomal recessive 53"}
{"db":"OMIM","id":"610220","name":"Deafness, autosomal recessive 59"}
{"db":"OMIM","id":"600971","name":"Deafness, autosomal recessive 6"}
{"db":"OMIM","id":"613865","name":"Deafness, autosomal recessive 61"}
{"db":"OMIM","id":"611451","name":"Deafness, autosomal recessive 63"}
{"db":"OMIM","id":"610265","name":"Deafness, autosomal recessive 67"}
{"db":"OMIM","id":"600974","name":"Deafness, autosomal recessive 7"}
{"db":"OMIM","id":"614934","name":"Deafness, autosomal recessive 70"}
{"db":"OMIM","id":"613718","name":"Deafness, autosomal recessive 74"}
{"db":"OMIM","id":"615540","name":"Deafness, autosomal recessive 76"}
{"db":"OMIM","id":"613079","name":"Deafness, autosomal recessive 77"}
{"db":"OMIM","id":"613307","name":"Deafness, autosomal recessive 79"}
{"db":"OMIM","id":"601072","name":"Deafness, autosomal recessive 8"}
{"db":"OMIM","id":"614129","name":"Deafness, autosomal recessive 81"}
{"db":"OMIM","id":"613391","name":"Deafness, autosomal recessive 84"}
{"db":"OMIM","id":"614944","name":"Deafness, autosomal recessive 84b"}
{"db":"OMIM","id":"614617","name":"Deafness, autosomal recessive 86"}
{"db":"OMIM","id":"615429","name":"Deafness, autosomal recessive 88"}
{"db":"OMIM","id":"613916","name":"Deafness, autosomal recessive 89"}
{"db":"OMIM","id":"601071","name":"Deafness, autosomal recessive 9"}
{"db":"OMIM","id":"613453","name":"Deafness, autosomal recessive 91"}
{"db":"OMIM","id":"614899","name":"Deafness, autosomal recessive 93"}
{"db":"OMIM","id":"614861","name":"Deafness, autosomal recessive 98"}
{"db":"OMIM","id":"221200","name":"Deafness, cochlear, with myopia and intellectual impairment"}
{"db":"OMIM","id":"304500","name":"Deafness, high-frequency sensorineural, X-linked"}
{"db":"OMIM","id":"611102","name":"Deafness, sensorineural, and male infertility"}
{"db":"OMIM","id":"304400","name":"Deafness, X-linked 2"}
{"db":"OMIM","id":"300066","name":"Deafness, X-linked 4"}
{"db":"OMIM","id":"300914","name":"Deafness, X-linked 6"}
{"db":"OMIM","id":"610006","name":"Deficiency of 2-methylbutyryl-CoA dehydrogenase"}
{"db":"OMIM","id":"231530","name":"Deficiency of 3-hydroxyacyl-CoA dehydrogenase"}
{"db":"OMIM","id":"203750","name":"Deficiency of acetyl-CoA acetyltransferase"}
{"db":"OMIM","id":"248500","name":"Deficiency of alpha-mannosidase"}
{"db":"OMIM","id":"608643","name":"Deficiency of aromatic-L-amino-acid decarboxylase"}
{"db":"OMIM","id":"613161","name":"Deficiency of beta-ureidopropionase"}
{"db":"OMIM","id":"222800","name":"Deficiency of bisphosphoglycerate mutase"}
{"db":"OMIM","id":"201470","name":"Deficiency of butyryl-CoA dehydrogenase"}
{"db":"OMIM","id":"250800","name":"Deficiency of cytochrome-b5 reductase"}
{"db":"OMIM","id":"604290","name":"Deficiency of ferroxidase"}
{"db":"OMIM","id":"230200","name":"Deficiency of galactokinase"}
{"db":"OMIM","id":"220120","name":"Deficiency of glycerate kinase"}
{"db":"OMIM","id":"307030","name":"Deficiency of glycerol kinase"}
{"db":"OMIM","id":"612736","name":"Deficiency of guanidinoacetate methyltransferase"}
{"db":"OMIM","id":"601492","name":"Deficiency of hyaluronoglucosaminidase"}
{"db":"OMIM","id":"246450","name":"Deficiency of hydroxymethylglutaryl-CoA lyase"}
{"db":"OMIM","id":"274500","name":"Deficiency of iodide peroxidase"}
{"db":"OMIM","id":"611283","name":"Deficiency of isobutyryl-CoA dehydrogenase"}
{"db":"OMIM","id":"248360","name":"Deficiency of malonyl-CoA decarboxylase"}
{"db":"OMIM","id":"614023","name":"Deficiency of phosphoserine phosphatase"}
{"db":"OMIM","id":"239510","name":"Deficiency of pyrroline-5-carboxylate reductase"}
{"db":"OMIM","id":"608611","name":"Deficiency of ribose-5-phosphate isomerase"}
{"db":"OMIM","id":"202010","name":"Deficiency of steroid 11-beta-monooxygenase"}
{"db":"OMIM","id":"606003","name":"Deficiency of transaldolase"}
{"db":"OMIM","id":"230400","name":"Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase"}
{"db":"OMIM","id":"278300","name":"Deficiency of xanthine oxidase"}
{"db":"OMIM","id":"145900","name":"Dejerine-Sottas disease"}
{"db":"OMIM","id":"176500","name":"Dementia familial British"}
{"db":"OMIM","id":"117300","name":"Dementia, familial Danish"}
{"db":"OMIM","id":"614172","name":"Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency"}
{"db":"OMIM","id":"300009","name":"Dent disease 1"}
{"db":"OMIM","id":"300555","name":"Dent disease 2"}
{"db":"OMIM","id":"125370","name":"Dentatorubral pallidoluysian atrophy"}
{"db":"OMIM","id":"125420","name":"Denticles"}
{"db":"OMIM","id":"125400","name":"Dentin dysplasia, type I"}
{"db":"OMIM","id":"125490","name":"Dentinogenesis imperfecta - Shield's type II"}
{"db":"OMIM","id":"125500","name":"Dentinogenesis imperfecta - Shield's type III"}
{"db":"OMIM","id":"166700","name":"Dermatofibrosis lenticularis disseminata"}
{"db":"OMIM","id":"125595","name":"Dermatopathia pigmentosa reticularis"}
{"db":"OMIM","id":"615777","name":"Desbuquois dysplasia 2"}
{"db":"OMIM","id":"251450","name":"Desbuquois syndrome"}
{"db":"OMIM","id":"135290","name":"Desmoid disease, hereditary"}
{"db":"OMIM","id":"602398","name":"Desmosterolosis"}
{"db":"OMIM","id":"600101","name":"DFNA 2 Nonsyndromic Hearing Loss"}
{"db":"OMIM","id":"222300","name":"Diabetes mellitus AND insipidus with optic atrophy AND deafness"}
{"db":"OMIM","id":"222100","name":"Diabetes mellitus type 1"}
{"db":"OMIM","id":"125853","name":"Diabetes mellitus type 2"}
{"db":"OMIM","id":"125852","name":"Diabetes mellitus, insulin-dependent, 2"}
{"db":"OMIM","id":"612520","name":"Diabetes mellitus, insulin-dependent, 20"}
{"db":"OMIM","id":"610199","name":"Diabetes mellitus, neonatal, with congenital hypothyroidism"}
{"db":"OMIM","id":"609069","name":"Diabetes mellitus, permanent neonatal, with cerebellar agenesis"}
{"db":"OMIM","id":"520000","name":"Diabetes-deafness syndrome maternally transmitted"}
{"db":"OMIM","id":"105650","name":"Diamond-Blackfan anemia 1"}
{"db":"OMIM","id":"613309","name":"Diamond-Blackfan anemia 10"}
{"db":"OMIM","id":"614900","name":"Diamond-Blackfan anemia 11"}
{"db":"OMIM","id":"615550","name":"Diamond-Blackfan anemia 12"}
{"db":"OMIM","id":"615909","name":"Diamond-Blackfan anemia 13"}
{"db":"OMIM","id":"610629","name":"Diamond-Blackfan anemia 3"}
{"db":"OMIM","id":"612527","name":"Diamond-Blackfan anemia 4"}
{"db":"OMIM","id":"612528","name":"Diamond-Blackfan anemia 5"}
{"db":"OMIM","id":"612562","name":"Diamond-Blackfan anemia 7"}
{"db":"OMIM","id":"612563","name":"Diamond-Blackfan anemia 8"}
{"db":"OMIM","id":"613308","name":"Diamond-Blackfan anemia 9"}
{"db":"OMIM","id":"608022","name":"Diaphanospondylodysostosis"}
{"db":"OMIM","id":"610187","name":"Diaphragmatic hernia 3"}
{"db":"OMIM","id":"131300","name":"Diaphyseal dysplasia"}
{"db":"OMIM","id":"112250","name":"Diaphyseal medullary stenosis with malignant fibrous histiocytoma"}
{"db":"OMIM","id":"610370","name":"Diarrhea 4, malabsorptive, congenital"}
{"db":"OMIM","id":"613217","name":"Diarrhea 5, with tufting enteropathy, congenital"}
{"db":"OMIM","id":"614616","name":"Diarrhea 6"}
{"db":"OMIM","id":"615863","name":"Diarrhea 7"}
{"db":"OMIM","id":"222600","name":"Diastrophic dysplasia"}
{"db":"OMIM","id":"222730","name":"Dicarboxylic aminoaciduria"}
{"db":"OMIM","id":"256370","name":"Diffuse mesangial sclerosis"}
{"db":"OMIM","id":"600231","name":"Diffuse palmoplantar keratoderma, Bothnian type"}
{"db":"OMIM","id":"188400","name":"DiGeorge sequence"}
{"db":"OMIM","id":"606835","name":"Digital arthropathy-brachydactyly, familial"}
{"db":"OMIM","id":"119900","name":"Digital clubbing, isolated congenital"}
{"db":"OMIM","id":"220500","name":"Digitorenocerebral syndrome"}
{"db":"OMIM","id":"261630","name":"Dihydropteridine reductase deficiency"}
{"db":"OMIM","id":"222748","name":"Dihydropyrimidinase deficiency"}
{"db":"OMIM","id":"274270","name":"Dihydropyrimidine dehydrogenase deficiency"}
{"db":"OMIM","id":"115200","name":"Dilated cardiomyopathy 1A"}
{"db":"OMIM","id":"612158","name":"Dilated cardiomyopathy 1AA"}
{"db":"OMIM","id":"601493","name":"Dilated cardiomyopathy 1C"}
{"db":"OMIM","id":"613122","name":"Dilated cardiomyopathy 1CC"}
{"db":"OMIM","id":"613172","name":"Dilated cardiomyopathy 1DD"}
{"db":"OMIM","id":"601154","name":"Dilated cardiomyopathy 1E"}
{"db":"OMIM","id":"613252","name":"Dilated cardiomyopathy 1EE"}
{"db":"OMIM","id":"613286","name":"Dilated cardiomyopathy 1FF"}
{"db":"OMIM","id":"604145","name":"Dilated cardiomyopathy 1G"}
{"db":"OMIM","id":"613642","name":"Dilated cardiomyopathy 1GG"}
{"db":"OMIM","id":"613881","name":"Dilated cardiomyopathy 1HH"}
{"db":"OMIM","id":"604765","name":"Dilated cardiomyopathy 1I"}
{"db":"OMIM","id":"615184","name":"Dilated cardiomyopathy 1II"}
{"db":"OMIM","id":"605362","name":"Dilated cardiomyopathy 1J"}
{"db":"OMIM","id":"615235","name":"Dilated cardiomyopathy 1JJ"}
{"db":"OMIM","id":"606685","name":"Dilated cardiomyopathy 1L"}
{"db":"OMIM","id":"607482","name":"Dilated cardiomyopathy 1M"}
{"db":"OMIM","id":"607487","name":"Dilated cardiomyopathy 1N"}
{"db":"OMIM","id":"608569","name":"Dilated cardiomyopathy 1O"}
{"db":"OMIM","id":"609909","name":"Dilated cardiomyopathy 1P"}
{"db":"OMIM","id":"613424","name":"Dilated cardiomyopathy 1R"}
{"db":"OMIM","id":"613426","name":"Dilated cardiomyopathy 1S"}
{"db":"OMIM","id":"613740","name":"Dilated cardiomyopathy 1T"}
{"db":"OMIM","id":"613697","name":"Dilated cardiomyopathy 1V"}
{"db":"OMIM","id":"611407","name":"Dilated cardiomyopathy 1W"}
{"db":"OMIM","id":"611615","name":"Dilated cardiomyopathy 1X"}
{"db":"OMIM","id":"611878","name":"Dilated cardiomyopathy 1Y"}
{"db":"OMIM","id":"611879","name":"Dilated cardiomyopathy 1Z"}
{"db":"OMIM","id":"611880","name":"Dilated cardiomyopathy 2A"}
{"db":"OMIM","id":"302045","name":"Dilated cardiomyopathy 3B"}
{"db":"OMIM","id":"605850","name":"Dimethylglycine dehydrogenase deficiency"}
{"db":"OMIM","id":"613571","name":"Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency"}
{"db":"OMIM","id":"209950","name":"Disseminated atypical mycobacterial infection"}
{"db":"OMIM","id":"614335","name":"Distal arthrogryposis type 1B"}
{"db":"OMIM","id":"601680","name":"Distal arthrogryposis type 2B"}
{"db":"OMIM","id":"615575","name":"Distal hereditary motor neuronopathy 2D"}
{"db":"OMIM","id":"158590","name":"Distal hereditary motor neuronopathy type 2A"}
{"db":"OMIM","id":"608634","name":"Distal hereditary motor neuronopathy type 2B"}
{"db":"OMIM","id":"613376","name":"Distal hereditary motor neuronopathy type 2C"}
{"db":"OMIM","id":"600794","name":"Distal hereditary motor neuronopathy type 5"}
{"db":"OMIM","id":"614751","name":"Distal hereditary motor neuronopathy type 5B"}
{"db":"OMIM","id":"158580","name":"Distal hereditary motor neuronopathy type 7"}
{"db":"OMIM","id":"607641","name":"Distal hereditary motor neuronopathy type 7B"}
{"db":"OMIM","id":"600334","name":"Distal myopathy Markesbery-Griggs type"}
{"db":"OMIM","id":"614321","name":"Distal myopathy, Tateyama type"}
{"db":"OMIM","id":"611067","name":"Distal spinal muscular atrophy, autosomal recessive 4"}
{"db":"OMIM","id":"600175","name":"Distal spinal muscular atrophy, congenital nonprogressive"}
{"db":"OMIM","id":"300489","name":"Distal spinal muscular atrophy, X-linked 3"}
{"db":"OMIM","id":"153400","name":"Distichiasis-lymphedema syndrome"}
{"db":"OMIM","id":"606482","name":"DNM2-related intermediate Charcot-Marie-Tooth neuropathy"}
{"db":"OMIM","id":"132000","name":"Dominant dystrophic epidermolysis bullosa with absence of skin"}
{"db":"OMIM","id":"165500","name":"Dominant hereditary optic atrophy"}
{"db":"OMIM","id":"222448","name":"Donnai Barrow syndrome"}
{"db":"OMIM","id":"223360","name":"Dopamine beta hydroxylase deficiency"}
{"db":"OMIM","id":"179850","name":"Dowling-Degos disease 1"}
{"db":"OMIM","id":"615327","name":"Dowling-Degos disease 2"}
{"db":"OMIM","id":"615696","name":"Dowling-degos disease 4"}
{"db":"OMIM","id":"126600","name":"Doyne honeycomb retinal dystrophy"}
{"db":"OMIM","id":"194080","name":"Drash syndrome"}
{"db":"OMIM","id":"604356","name":"Duane syndrome type 2"}
{"db":"OMIM","id":"607323","name":"Duane-radial ray syndrome"}
{"db":"OMIM","id":"237500","name":"Dubin-Johnson syndrome"}
{"db":"OMIM","id":"310200","name":"Duchenne muscular dystrophy"}
{"db":"OMIM","id":"223800","name":"Dyggve-Melchior-Clausen syndrome"}
{"db":"OMIM","id":"615402","name":"Dyschromatosis universalis hereditaria 3"}
{"db":"OMIM","id":"224050","name":"Dysequilibrium syndrome"}
{"db":"OMIM","id":"202650","name":"Dysgnathia complex"}
{"db":"OMIM","id":"127550","name":"Dyskeratosis congenita autosomal dominant"}
{"db":"OMIM","id":"224230","name":"Dyskeratosis congenita autosomal recessive 1"}
{"db":"OMIM","id":"305000","name":"Dyskeratosis congenita X-linked"}
{"db":"OMIM","id":"613989","name":"Dyskeratosis congenita, autosomal dominant, 2"}
{"db":"OMIM","id":"613990","name":"Dyskeratosis congenita, autosomal dominant, 3"}
{"db":"OMIM","id":"613987","name":"Dyskeratosis congenita, autosomal recessive 2"}
{"db":"OMIM","id":"613988","name":"Dyskeratosis congenita, autosomal recessive, 3"}
{"db":"OMIM","id":"615190","name":"Dyskeratosis congenita, autosomal recessive, 5"}
{"db":"OMIM","id":"606703","name":"Dyskinesia, familial, with facial myokymia"}
{"db":"OMIM","id":"128100","name":"Dystonia 1"}
{"db":"OMIM","id":"128200","name":"Dystonia 10"}
{"db":"OMIM","id":"128235","name":"Dystonia 12"}
{"db":"OMIM","id":"612067","name":"Dystonia 16"}
{"db":"OMIM","id":"612126","name":"Dystonia 18"}
{"db":"OMIM","id":"615034","name":"Dystonia 24"}
{"db":"OMIM","id":"615073","name":"Dystonia 25"}
{"db":"OMIM","id":"314250","name":"Dystonia 3, torsion, X-linked"}
{"db":"OMIM","id":"128230","name":"Dystonia 5, Dopa-responsive type"}
{"db":"OMIM","id":"602629","name":"Dystonia 6, torsion"}
{"db":"OMIM","id":"145680","name":"Dystransthyretinemic euthyroidal hyperthyroxinemia"}
{"db":"OMIM","id":"613402","name":"Early infantile epileptic encephalopathy 10"}
{"db":"OMIM","id":"613721","name":"Early infantile epileptic encephalopathy 11"}
{"db":"OMIM","id":"613722","name":"Early infantile epileptic encephalopathy 12"}
{"db":"OMIM","id":"614558","name":"Early infantile epileptic encephalopathy 13"}
{"db":"OMIM","id":"614959","name":"Early infantile epileptic encephalopathy 14"}
{"db":"OMIM","id":"615006","name":"Early infantile epileptic encephalopathy 15"}
{"db":"OMIM","id":"615338","name":"Early infantile epileptic encephalopathy 16"}
{"db":"OMIM","id":"615473","name":"Early infantile epileptic encephalopathy 17"}
{"db":"OMIM","id":"615476","name":"Early infantile epileptic encephalopathy 18"}
{"db":"OMIM","id":"300672","name":"Early infantile epileptic encephalopathy 2"}
{"db":"OMIM","id":"612164","name":"Early infantile epileptic encephalopathy 4"}
{"db":"OMIM","id":"613477","name":"Early infantile epileptic encephalopathy 5"}
{"db":"OMIM","id":"613720","name":"Early infantile epileptic encephalopathy 7"}
{"db":"OMIM","id":"300607","name":"Early infantile epileptic encephalopathy 8"}
{"db":"OMIM","id":"300088","name":"Early infantile epileptic encephalopathy 9"}
{"db":"OMIM","id":"609304","name":"Early myoclonic encephalopathy"}
{"db":"OMIM","id":"614940","name":"Ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant"}
{"db":"OMIM","id":"614941","name":"Ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive"}
{"db":"OMIM","id":"614929","name":"Ectodermal dysplasia 7, hair/nail type"}
{"db":"OMIM","id":"614931","name":"Ectodermal dysplasia 9, hair/nail type"}
{"db":"OMIM","id":"604536","name":"Ectodermal dysplasia skin fragility syndrome"}
{"db":"OMIM","id":"602032","name":"Ectodermal dysplasia, 'pure' hair-nail type"}
{"db":"OMIM","id":"300301","name":"Ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema"}
{"db":"OMIM","id":"612132","name":"Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency, autosomal dominant"}
{"db":"OMIM","id":"613573","name":"Ectodermal dysplasia-syndactyly syndrome 1"}
{"db":"OMIM","id":"225200","name":"Ectopia lentis et pupillae"}
{"db":"OMIM","id":"225100","name":"Ectopia lentis, isolated autosomal recessive"}
{"db":"OMIM","id":"129600","name":"Ectopia lentis, isolated, autosomal dominant"}
{"db":"OMIM","id":"601552","name":"Ectopia lentis, spontaneous filtering blebs, and craniofacial dysmorphism"}
{"db":"OMIM","id":"604292","name":"Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3"}
{"db":"OMIM","id":"614303","name":"Edict syndrome"}
{"db":"OMIM","id":"225280","name":"EEM syndrome"}
{"db":"OMIM","id":"130070","name":"Ehlers-Danlos syndrome progeroid type"}
{"db":"OMIM","id":"614557","name":"Ehlers-danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss"}
{"db":"OMIM","id":"225320","name":"Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form"}
{"db":"OMIM","id":"225400","name":"Ehlers-Danlos syndrome, hydroxylysine-deficient"}
{"db":"OMIM","id":"601776","name":"Ehlers-Danlos syndrome, musculocontractural type"}
{"db":"OMIM","id":"615539","name":"Ehlers-Danlos syndrome, musculocontractural type 2"}
{"db":"OMIM","id":"130060","name":"Ehlers-Danlos syndrome, procollagen proteinase deficient"}
{"db":"OMIM","id":"615349","name":"Ehlers-Danlos syndrome, progeroid type, 2"}
{"db":"OMIM","id":"130050","name":"Ehlers-Danlos syndrome, type 4"}
{"db":"OMIM","id":"606408","name":"Ehlers-Danlos-like syndrome due to tenascin-X deficiency"}
{"db":"OMIM","id":"602771","name":"Eichsfeld type congenital muscular dystrophy"}
{"db":"OMIM","id":"611804","name":"Elliptocytosis 1"}
{"db":"OMIM","id":"130600","name":"Elliptocytosis 2"}
{"db":"OMIM","id":"310300","name":"Emery-Dreifuss muscular dystrophy 1, X-linked"}
{"db":"OMIM","id":"612998","name":"Emery-dreifuss muscular dystrophy 4, autosomal dominant"}
{"db":"OMIM","id":"612999","name":"Emery-dreifuss muscular dystrophy 5, autosomal dominant"}
{"db":"OMIM","id":"614302","name":"Emery-Dreifuss muscular dystrophy 7, autosomal dominant"}
{"db":"OMIM","id":"204690","name":"Enamel-renal syndrome"}
{"db":"OMIM","id":"614388","name":"Encephalopathy, lethal, due to defective mitochondrial and peroxisomal fission"}
{"db":"OMIM","id":"300673","name":"Encephalopathy, neonatal severe, due to MECP2 mutations"}
{"db":"OMIM","id":"615924","name":"Encephalopathy, progressive, with or without lipodystrophy"}
{"db":"OMIM","id":"612651","name":"Endocrine-cerebroosteodysplasia"}
{"db":"OMIM","id":"608089","name":"Endometrial carcinoma"}
{"db":"OMIM","id":"603034","name":"Endplate acetylcholinesterase deficiency"}
{"db":"OMIM","id":"268100","name":"Enhanced s-cone syndrome"}
{"db":"OMIM","id":"600791","name":"Enlarged vestibular aqueduct syndrome"}
{"db":"OMIM","id":"226200","name":"Enterokinase deficiency"}
{"db":"OMIM","id":"226400","name":"Epidermodysplasia verruciformis"}
{"db":"OMIM","id":"226670","name":"Epidermolysa bullosa simplex and limb girdle muscular dystrophy"}
{"db":"OMIM","id":"131760","name":"Epidermolysis bullosa herpetiformis, Dowling-Meara"}
{"db":"OMIM","id":"131960","name":"Epidermolysis bullosa simplex with mottled pigmentation"}
{"db":"OMIM","id":"612138","name":"Epidermolysis bullosa simplex with pyloric atresia"}
{"db":"OMIM","id":"601001","name":"Epidermolysis bullosa simplex, autosomal recessive"}
{"db":"OMIM","id":"615425","name":"Epidermolysis bullosa simplex, autosomal recessive 2"}
{"db":"OMIM","id":"131800","name":"Epidermolysis bullosa simplex, Cockayne-Touraine type"}
{"db":"OMIM","id":"131900","name":"Epidermolysis bullosa simplex, Koebner type"}
{"db":"OMIM","id":"131950","name":"Epidermolysis bullosa simplex, Ogna type"}
{"db":"OMIM","id":"226730","name":"Epidermolysis bullosa with pyloric atresia"}
{"db":"OMIM","id":"609638","name":"Epidermolysis bullosa, lethal acantholytic"}
{"db":"OMIM","id":"615028","name":"Epidermolysis bullosa, nonspecific, autosomal recessive"}
{"db":"OMIM","id":"144200","name":"Epidermolytic palmoplantar keratoderma"}
{"db":"OMIM","id":"615400","name":"Epilepsy, familial adult myoclonic, 5"}
{"db":"OMIM","id":"614417","name":"Epilepsy, familial temporal lobe, 5"}
{"db":"OMIM","id":"600512","name":"Epilepsy, lateral temporal lobe, autosomal dominant"}
{"db":"OMIM","id":"615005","name":"Epilepsy, nocturnal frontal lobe, 5"}
{"db":"OMIM","id":"600513","name":"Epilepsy, nocturnal frontal lobe, type 1"}
{"db":"OMIM","id":"605375","name":"Epilepsy, nocturnal frontal lobe, type 3"}
{"db":"OMIM","id":"610353","name":"Epilepsy, nocturnal frontal lobe, type 4"}
{"db":"OMIM","id":"604364","name":"Epilepsy, partial, with variable foci"}
{"db":"OMIM","id":"611726","name":"Epilepsy, progressive myoclonic 3"}
{"db":"OMIM","id":"254900","name":"Epilepsy, progressive myoclonic 4, with or without renal failure"}
{"db":"OMIM","id":"613832","name":"Epilepsy, progressive myoclonic 5"}
{"db":"OMIM","id":"614018","name":"Epilepsy, progressive myoclonic 6"}
{"db":"OMIM","id":"616187","name":"Epilepsy, progressive myoclonic 7"}
{"db":"OMIM","id":"616230","name":"Epilepsy, progressive myoclonic 8"}
{"db":"OMIM","id":"300491","name":"Epilepsy, X-linked, with variable learning disabilities and behavior disorders"}
{"db":"OMIM","id":"615369","name":"Epileptic encephalopathy, childhood-onset"}
{"db":"OMIM","id":"308350","name":"Epileptic encephalopathy, early infantile, 1"}
{"db":"OMIM","id":"615744","name":"Epileptic encephalopathy, early infantile, 19"}
{"db":"OMIM","id":"615859","name":"Epileptic encephalopathy, early infantile, 23"}
{"db":"OMIM","id":"615871","name":"Epileptic encephalopathy, early infantile, 24"}
{"db":"OMIM","id":"615905","name":"Epileptic encephalopathy, early infantile, 25"}
{"db":"OMIM","id":"616056","name":"Epileptic encephalopathy, early infantile, 26"}
{"db":"OMIM","id":"616139","name":"Epileptic encephalopathy, early infantile, 27"}
{"db":"OMIM","id":"616211","name":"Epileptic encephalopathy, early infantile, 28"}
{"db":"OMIM","id":"615923","name":"Epiphyseal chondrodysplasia, miura type"}
{"db":"OMIM","id":"132450","name":"Epiphyseal dysplasia, multiple, with myopia and conductive deafness"}
{"db":"OMIM","id":"160120","name":"Episodic ataxia type 1"}
{"db":"OMIM","id":"108500","name":"Episodic ataxia type 2"}
{"db":"OMIM","id":"613855","name":"Episodic ataxia, type 5"}
{"db":"OMIM","id":"612656","name":"Episodic ataxia, type 6"}
{"db":"OMIM","id":"615551","name":"Episodic pain syndrome, familial, 2"}
{"db":"OMIM","id":"615552","name":"Episodic pain syndrome, familial, 3"}
{"db":"OMIM","id":"300872","name":"Epsilon-trimethyllysine hydroxylase deficiency"}
{"db":"OMIM","id":"153650","name":"Epstein syndrome"}
{"db":"OMIM","id":"245340","name":"Erythrocyte lactate transporter defect"}
{"db":"OMIM","id":"263400","name":"Erythrocytosis, familial, 2"}
{"db":"OMIM","id":"609820","name":"Erythrocytosis, familial, 3"}
{"db":"OMIM","id":"611783","name":"Erythrocytosis, familial, 4"}
{"db":"OMIM","id":"615508","name":"Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige"}
{"db":"OMIM","id":"609165","name":"Erythroderma, ichthyosiform, congenital reticular"}
{"db":"OMIM","id":"133200","name":"Erythrokeratodermia variabilis"}
{"db":"OMIM","id":"609313","name":"Erythrokeratodermia variabilis 3"}
{"db":"OMIM","id":"133190","name":"Erythrokeratodermia with ataxia"}
{"db":"OMIM","id":"177000","name":"Erythropoietic protoporphyria"}
{"db":"OMIM","id":"145500","name":"Essential hypertension"}
{"db":"OMIM","id":"260800","name":"Essential pentosuria"}
{"db":"OMIM","id":"187950","name":"Essential thrombocythemia"}
{"db":"OMIM","id":"615363","name":"Estrogen resistance"}
{"db":"OMIM","id":"602473","name":"Ethylmalonic encephalopathy"}
{"db":"OMIM","id":"610021","name":"Exercise-induced hyperinsulinemic hypoglycemia"}
{"db":"OMIM","id":"607936","name":"Exfoliative ichthyosis, autosomal recessive, ichthyosis bullosa of siemens-like"}
{"db":"OMIM","id":"612714","name":"Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis"}
{"db":"OMIM","id":"613310","name":"Exudative vitreoretinopathy 5"}
{"db":"OMIM","id":"301500","name":"Fabry's disease"}
{"db":"OMIM","id":"615139","name":"Facial dysmorphism, immunodeficiency, livedo, and short stature"}
{"db":"OMIM","id":"158901","name":"Facioscapulohumeral muscular dystrophy 2"}
{"db":"OMIM","id":"609814","name":"Factor H deficiency"}
{"db":"OMIM","id":"613625","name":"Factor v and factor viii, combined deficiency of, 2"}
{"db":"OMIM","id":"227400","name":"Factor V deficiency"}
{"db":"OMIM","id":"227500","name":"Factor VII deficiency"}
{"db":"OMIM","id":"227600","name":"Factor X deficiency"}
{"db":"OMIM","id":"234000","name":"Factor XII deficiency disease"}
{"db":"OMIM","id":"613225","name":"Factor xiii, a subunit, deficiency of"}
{"db":"OMIM","id":"613235","name":"Factor xiii, b subunit, deficiency of"}
{"db":"OMIM","id":"125350","name":"Failure of tooth eruption, primary"}
{"db":"OMIM","id":"175100","name":"Familial adenomatous polyposis 1"}
{"db":"OMIM","id":"191900","name":"Familial amyloid nephropathy with urticaria AND deafness"}
{"db":"OMIM","id":"213300","name":"Familial aplasia of the vermis"}
{"db":"OMIM","id":"145980","name":"Familial benign hypercalcemia"}
{"db":"OMIM","id":"169600","name":"Familial benign pemphigus"}
{"db":"OMIM","id":"114480","name":"Familial cancer of breast"}
{"db":"OMIM","id":"613108","name":"Familial chronic mucocutaneous candidiasis"}
{"db":"OMIM","id":"611762","name":"Familial cold autoinflammatory syndrome 2"}
{"db":"OMIM","id":"614468","name":"Familial cold autoinflammatory syndrome 3"}
{"db":"OMIM","id":"616115","name":"Familial cold autoinflammatory syndrome 4"}
{"db":"OMIM","id":"120100","name":"Familial cold urticaria"}
{"db":"OMIM","id":"223900","name":"Familial dysautonomia"}
{"db":"OMIM","id":"604218","name":"Familial encephalopathy with neuroserpin inclusion bodies"}
{"db":"OMIM","id":"615040","name":"Familial episodic pain syndrome 1"}
{"db":"OMIM","id":"133100","name":"Familial erythrocytosis, 1"}
{"db":"OMIM","id":"174810","name":"Familial expansile osteolysis"}
{"db":"OMIM","id":"133780","name":"Familial exudative vitreoretinopathy"}
{"db":"OMIM","id":"305390","name":"Familial exudative vitreoretinopathy, X-linked"}
{"db":"OMIM","id":"611277","name":"Familial febrile seizures 8"}
{"db":"OMIM","id":"139300","name":"Familial gynecomastia, due to increased aromatase activity"}
{"db":"OMIM","id":"141500","name":"Familial hemiplegic migraine type 1"}
{"db":"OMIM","id":"602481","name":"Familial hemiplegic migraine type 2"}
{"db":"OMIM","id":"609634","name":"Familial hemiplegic migraine type 3"}
{"db":"OMIM","id":"103900","name":"Familial hyperaldosteronism type 1"}
{"db":"OMIM","id":"613677","name":"Familial hyperaldosteronism type 3"}
{"db":"OMIM","id":"143890","name":"Familial hypercholesterolemia"}
{"db":"OMIM","id":"192600","name":"Familial hypertrophic cardiomyopathy 1"}
{"db":"OMIM","id":"608758","name":"Familial hypertrophic cardiomyopathy 10"}
{"db":"OMIM","id":"612098","name":"Familial hypertrophic cardiomyopathy 11"}
{"db":"OMIM","id":"612124","name":"Familial hypertrophic cardiomyopathy 12"}
{"db":"OMIM","id":"613243","name":"Familial hypertrophic cardiomyopathy 13"}
{"db":"OMIM","id":"613251","name":"Familial hypertrophic cardiomyopathy 14"}
{"db":"OMIM","id":"613255","name":"Familial hypertrophic cardiomyopathy 15"}
{"db":"OMIM","id":"613838","name":"Familial hypertrophic cardiomyopathy 16"}
{"db":"OMIM","id":"613873","name":"Familial hypertrophic cardiomyopathy 17"}
{"db":"OMIM","id":"613874","name":"Familial hypertrophic cardiomyopathy 18"}
{"db":"OMIM","id":"613875","name":"Familial hypertrophic cardiomyopathy 19"}
{"db":"OMIM","id":"115195","name":"Familial hypertrophic cardiomyopathy 2"}
{"db":"OMIM","id":"613876","name":"Familial hypertrophic cardiomyopathy 20"}
{"db":"OMIM","id":"115196","name":"Familial hypertrophic cardiomyopathy 3"}
{"db":"OMIM","id":"115197","name":"Familial hypertrophic cardiomyopathy 4"}
{"db":"OMIM","id":"600858","name":"Familial hypertrophic cardiomyopathy 6"}
{"db":"OMIM","id":"613690","name":"Familial hypertrophic cardiomyopathy 7"}
{"db":"OMIM","id":"608751","name":"Familial hypertrophic cardiomyopathy 8"}
{"db":"OMIM","id":"613765","name":"Familial hypertrophic cardiomyopathy 9"}
{"db":"OMIM","id":"604091","name":"Familial hypoalphalipoproteinemia"}
{"db":"OMIM","id":"263800","name":"Familial hypokalemia-hypomagnesemia"}
{"db":"OMIM","id":"137920","name":"Familial hypoplastic, glomerulocystic kidney"}
{"db":"OMIM","id":"254210","name":"Familial infantile myasthenia"}
{"db":"OMIM","id":"162000","name":"Familial juvenile gout"}
{"db":"OMIM","id":"249100","name":"Familial Mediterranean fever"}
{"db":"OMIM","id":"134610","name":"Familial mediterranean fever, autosomal dominant"}
{"db":"OMIM","id":"155240","name":"Familial medullary thyroid carcinoma"}
{"db":"OMIM","id":"601606","name":"Familial multiple trichoepitheliomata"}
{"db":"OMIM","id":"601399","name":"Familial platelet disorder with associated myeloid malignancy"}
{"db":"OMIM","id":"175780","name":"Familial porencephaly"}
{"db":"OMIM","id":"176100","name":"Familial porphyria cutanea tarda"}
{"db":"OMIM","id":"234810","name":"Familial pulmonary capillary hemangiomatosis"}
{"db":"OMIM","id":"233100","name":"Familial renal glucosuria"}
{"db":"OMIM","id":"220150","name":"Familial renal hypouricemia"}
{"db":"OMIM","id":"115210","name":"Familial restrictive cardiomyopathy 1"}
{"db":"OMIM","id":"612422","name":"Familial restrictive cardiomyopathy 3"}
{"db":"OMIM","id":"144650","name":"Familial type 5 hyperlipoproteinemia"}
{"db":"OMIM","id":"105200","name":"Familial visceral amyloidosis, Ostertag type"}
{"db":"OMIM","id":"307800","name":"Familial X-linked hypophosphatemic vitamin D refractory rickets"}
{"db":"OMIM","id":"227650","name":"Fanconi anemia, complementation group A"}
{"db":"OMIM","id":"300514","name":"Fanconi anemia, complementation group B"}
{"db":"OMIM","id":"227645","name":"Fanconi anemia, complementation group C"}
{"db":"OMIM","id":"605724","name":"Fanconi anemia, complementation group D1"}
{"db":"OMIM","id":"227646","name":"Fanconi anemia, complementation group D2"}
{"db":"OMIM","id":"600901","name":"Fanconi anemia, complementation group E"}
{"db":"OMIM","id":"603467","name":"Fanconi anemia, complementation group F"}
{"db":"OMIM","id":"614082","name":"Fanconi anemia, complementation group G"}
{"db":"OMIM","id":"609053","name":"Fanconi anemia, complementation group I"}
{"db":"OMIM","id":"609054","name":"Fanconi anemia, complementation group J"}
{"db":"OMIM","id":"614083","name":"Fanconi anemia, complementation group L"}
{"db":"OMIM","id":"614087","name":"Fanconi anemia, complementation group M"}
{"db":"OMIM","id":"610832","name":"Fanconi anemia, complementation group N"}
{"db":"OMIM","id":"613390","name":"Fanconi anemia, complementation group O"}
{"db":"OMIM","id":"613951","name":"Fanconi anemia, complementation group P"}
{"db":"OMIM","id":"615272","name":"Fanconi anemia, complementation group Q"}
{"db":"OMIM","id":"613388","name":"Fanconi renotubular syndrome 2"}
{"db":"OMIM","id":"615605","name":"Fanconi renotubular syndrome 3"}
{"db":"OMIM","id":"227810","name":"Fanconi-Bickel syndrome"}
{"db":"OMIM","id":"228000","name":"Farber's lipogranulomatosis"}
{"db":"OMIM","id":"600072","name":"Fatal familial insomnia"}
{"db":"OMIM","id":"614418","name":"Febrile seizures, familial, 11"}
{"db":"OMIM","id":"604352","name":"Febrile seizures, familial, 4"}
{"db":"OMIM","id":"153640","name":"Fechtner syndrome"}
{"db":"OMIM","id":"164280","name":"Feingold syndrome 1"}
{"db":"OMIM","id":"141749","name":"Fetal hemoglobin quantitative trait locus 1"}
{"db":"OMIM","id":"305450","name":"FG syndrome"}
{"db":"OMIM","id":"300321","name":"FG syndrome 2"}
{"db":"OMIM","id":"300422","name":"FG syndrome 4"}
{"db":"OMIM","id":"228520","name":"Fibrochondrogenesis"}
{"db":"OMIM","id":"614524","name":"Fibrochondrogenesis 2"}
{"db":"OMIM","id":"135700","name":"Fibrosis of extraocular muscles, congenital, 1"}
{"db":"OMIM","id":"602078","name":"Fibrosis of extraocular muscles, congenital, 2"}
{"db":"OMIM","id":"600638","name":"Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement"}
{"db":"OMIM","id":"616219","name":"Fibrosis of extraocular muscles, congenital, 5"}
{"db":"OMIM","id":"118400","name":"Fibrous dysplasia of jaw"}
{"db":"OMIM","id":"228900","name":"Fibular hypoplasia and complex brachydactyly"}
{"db":"OMIM","id":"272440","name":"Filippi syndrome"}
{"db":"OMIM","id":"256300","name":"Finnish congenital nephrotic syndrome"}
{"db":"OMIM","id":"136120","name":"Fish-eye disease"}
{"db":"OMIM","id":"121850","name":"Fleck corneal dystrophy"}
{"db":"OMIM","id":"228980","name":"Fleck retina, familial benign"}
{"db":"OMIM","id":"136140","name":"Floating-Harbor syndrome"}
{"db":"OMIM","id":"607341","name":"Focal cortical dysplasia of Taylor"}
{"db":"OMIM","id":"305600","name":"Focal dermal hypoplasia"}
{"db":"OMIM","id":"245570","name":"Focal epilepsy with speech disorder with or without mental retardation"}
{"db":"OMIM","id":"614974","name":"Focal facial dermal dysplasia 4"}
{"db":"OMIM","id":"603278","name":"Focal segmental glomerulosclerosis 1"}
{"db":"OMIM","id":"603965","name":"Focal segmental glomerulosclerosis 2"}
{"db":"OMIM","id":"613237","name":"Focal segmental glomerulosclerosis 5"}
{"db":"OMIM","id":"614131","name":"Focal segmental glomerulosclerosis 6"}
{"db":"OMIM","id":"616002","name":"Focal segmental glomerulosclerosis 7"}
{"db":"OMIM","id":"616032","name":"Focal segmental glomerulosclerosis 8"}
{"db":"OMIM","id":"616220","name":"Focal segmental glomerulosclerosis 9"}
{"db":"OMIM","id":"229070","name":"Follicle-stimulating hormone deficiency, isolated"}
{"db":"OMIM","id":"609218","name":"Foveal hypoplasia and anterior segment dysgenesis"}
{"db":"OMIM","id":"136520","name":"Foveal hypoplasia and presenile cataract syndrome"}
{"db":"OMIM","id":"300624","name":"Fragile X syndrome"}
{"db":"OMIM","id":"300623","name":"Fragile X tremor/ataxia syndrome"}
{"db":"OMIM","id":"249420","name":"Frank Ter Haar syndrome"}
{"db":"OMIM","id":"136680","name":"Frasier syndrome"}
{"db":"OMIM","id":"309548","name":"FRAXE"}
{"db":"OMIM","id":"193700","name":"Freeman-Sheldon syndrome"}
{"db":"OMIM","id":"229300","name":"Friedreich ataxia 1"}
{"db":"OMIM","id":"305620","name":"Frontometaphyseal dysplasia"}
{"db":"OMIM","id":"136760","name":"Frontonasal dysplasia"}
{"db":"OMIM","id":"613451","name":"Frontonasal dysplasia 2"}
{"db":"OMIM","id":"613456","name":"Frontonasal dysplasia 3"}
{"db":"OMIM","id":"600274","name":"Frontotemporal dementia"}
{"db":"OMIM","id":"105550","name":"Frontotemporal dementia and/or amyotrophic lateral sclerosis"}
{"db":"OMIM","id":"615911","name":"Frontotemporal dementia and/or amyotrophic lateral sclerosis 2"}
{"db":"OMIM","id":"600795","name":"Frontotemporal Dementia, Chromosome 3-Linked"}
{"db":"OMIM","id":"607485","name":"Frontotemporal dementia, ubiquitin-positive"}
{"db":"OMIM","id":"229700","name":"Fructose-biphosphatase deficiency"}
{"db":"OMIM","id":"229800","name":"Fructosuria, essential"}
{"db":"OMIM","id":"230000","name":"Fucosidosis"}
{"db":"OMIM","id":"228930","name":"Fuhrmann syndrome"}
{"db":"OMIM","id":"606812","name":"Fumarase deficiency"}
{"db":"OMIM","id":"245200","name":"Galactosylceramide beta-galactosidase deficiency"}
{"db":"OMIM","id":"611465","name":"Gallbladder disease 4"}
{"db":"OMIM","id":"613163","name":"Gamma-aminobutyric acid transaminase deficiency"}
{"db":"OMIM","id":"230450","name":"Gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to"}
{"db":"OMIM","id":"137200","name":"Gamstorp-Wohlfart syndrome"}
{"db":"OMIM","id":"252650","name":"Ganglioside sialidase deficiency"}
{"db":"OMIM","id":"230650","name":"Gangliosidosis GM1 type 3"}
{"db":"OMIM","id":"606764","name":"Gastrointestinal Stromal Tumors"}
{"db":"OMIM","id":"300367","name":"GATA-1-related thrombocytopenia with dyserythropoiesis"}
{"db":"OMIM","id":"231005","name":"Gaucher disease type 3C"}
{"db":"OMIM","id":"610539","name":"Gaucher disease, atypical, due to saposin C deficiency"}
{"db":"OMIM","id":"608013","name":"Gaucher disease, perinatal lethal"}
{"db":"OMIM","id":"230800","name":"Gaucher's disease, type 1"}
{"db":"OMIM","id":"607313","name":"Gaze palsy, familial horizontal, with progressive scoliosis"}
{"db":"OMIM","id":"231050","name":"Geleophysic dysplasia"}
{"db":"OMIM","id":"614185","name":"Geleophysic dysplasia 2"}
{"db":"OMIM","id":"614473","name":"Generalized arterial calcification of infancy 2"}
{"db":"OMIM","id":"131750","name":"Generalized dominant dystrophic epidermolysis bullosa"}
{"db":"OMIM","id":"609446","name":"Generalized epilepsy and paroxysmal dyskinesia"}
{"db":"OMIM","id":"604233","name":"Generalized epilepsy with febrile seizures plus, type 1"}
{"db":"OMIM","id":"604403","name":"Generalized epilepsy with febrile seizures plus, type 2"}
{"db":"OMIM","id":"613863","name":"Generalized epilepsy with febrile seizures plus, type 7"}
{"db":"OMIM","id":"616172","name":"Generalized epilepsy with febrile seizures plus, type 9"}
{"db":"OMIM","id":"606170","name":"Genitopatellar syndrome"}
{"db":"OMIM","id":"231070","name":"Geroderma osteodysplastica"}
{"db":"OMIM","id":"137440","name":"Gerstmann-Straussler-Scheinker syndrome"}
{"db":"OMIM","id":"256850","name":"Giant axonal neuropathy"}
{"db":"OMIM","id":"610100","name":"Giant axonal neuropathy, autosomal dominant"}
{"db":"OMIM","id":"143500","name":"Gilbert's syndrome"}
{"db":"OMIM","id":"135300","name":"Gingival fibromatosis 1"}
{"db":"OMIM","id":"135400","name":"Gingival fibromatosis with hypertrichosis"}
{"db":"OMIM","id":"273800","name":"Glanzmann's thrombasthenia"}
{"db":"OMIM","id":"603383","name":"Glaucoma 1, open angle, F"}
{"db":"OMIM","id":"609887","name":"Glaucoma 1, open angle, G"}
{"db":"OMIM","id":"613100","name":"Glaucoma 1, open angle, O"}
{"db":"OMIM","id":"613086","name":"Glaucoma 3, primary congenital, d"}
{"db":"OMIM","id":"231300","name":"Glaucoma, congenital"}
{"db":"OMIM","id":"102530","name":"Globozoospermia"}
{"db":"OMIM","id":"609886","name":"Glomerulocystic kidney disease with hyperuricemia and isosthenuria"}
{"db":"OMIM","id":"601894","name":"Glomerulopathy with fibronectin deposits 2"}
{"db":"OMIM","id":"138000","name":"Glomuvenous malformations"}
{"db":"OMIM","id":"607398","name":"Glucocorticoid deficiency 2"}
{"db":"OMIM","id":"614736","name":"Glucocorticoid deficiency 4"}
{"db":"OMIM","id":"231550","name":"Glucocorticoid deficiency with achalasia"}
{"db":"OMIM","id":"615962","name":"Glucocorticoid resistance, generalized"}
{"db":"OMIM","id":"606777","name":"Glucose transporter type 1 deficiency syndrome"}
{"db":"OMIM","id":"232220","name":"Glucose-6-phosphate transport defect"}
{"db":"OMIM","id":"229100","name":"Glutamate formiminotransferase deficiency"}
{"db":"OMIM","id":"610015","name":"Glutamine deficiency, congenital"}
{"db":"OMIM","id":"231670","name":"Glutaric aciduria, type 1"}
{"db":"OMIM","id":"231690","name":"Glutaryl-CoA oxidase deficiency"}
{"db":"OMIM","id":"231900","name":"Glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to"}
{"db":"OMIM","id":"266130","name":"Gluthathione synthetase deficiency"}
{"db":"OMIM","id":"606664","name":"Glycine N-methyltransferase deficiency"}
{"db":"OMIM","id":"611556","name":"Glycogen storage disease 0, muscle"}
{"db":"OMIM","id":"261750","name":"Glycogen storage disease IXb"}
{"db":"OMIM","id":"613027","name":"Glycogen storage disease IXc"}
{"db":"OMIM","id":"300559","name":"Glycogen storage disease IXd"}
{"db":"OMIM","id":"261740","name":"Glycogen storage disease of heart, lethal congenital"}
{"db":"OMIM","id":"612932","name":"Glycogen storage disease type 13"}
{"db":"OMIM","id":"232200","name":"Glycogen storage disease type 1A"}
{"db":"OMIM","id":"232400","name":"Glycogen storage disease type III"}
{"db":"OMIM","id":"306000","name":"Glycogen storage disease type IXa1"}
{"db":"OMIM","id":"261670","name":"Glycogen storage disease type X"}
{"db":"OMIM","id":"612933","name":"Glycogen storage disease XI"}
{"db":"OMIM","id":"613507","name":"Glycogen storage disease XV"}
{"db":"OMIM","id":"232300","name":"Glycogen storage disease, type II"}
{"db":"OMIM","id":"232500","name":"Glycogen storage disease, type IV"}
{"db":"OMIM","id":"232600","name":"Glycogen storage disease, type V"}
{"db":"OMIM","id":"232700","name":"Glycogen storage disease, type VI"}
{"db":"OMIM","id":"232800","name":"Glycogen storage disease, type VII"}
{"db":"OMIM","id":"610293","name":"Glycosylphosphatidylinositol deficiency"}
{"db":"OMIM","id":"138800","name":"Goiter, multinodular 1, with or without sertoli-leydig cell tumors"}
{"db":"OMIM","id":"233400","name":"Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance"}
{"db":"OMIM","id":"176410","name":"Gonadotropin-independent familial sexual precocity"}
{"db":"OMIM","id":"114300","name":"Gordon's syndrome"}
{"db":"OMIM","id":"109400","name":"Gorlin syndrome"}
{"db":"OMIM","id":"602361","name":"Gracile bone dysplasia"}
{"db":"OMIM","id":"603358","name":"GRACILE syndrome"}
{"db":"OMIM","id":"233690","name":"Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative"}
{"db":"OMIM","id":"139090","name":"Gray platelet syndrome"}
{"db":"OMIM","id":"200700","name":"Grebe syndrome"}
{"db":"OMIM","id":"215140","name":"Greenberg dysplasia"}
{"db":"OMIM","id":"175700","name":"Greig cephalopolysyndactyly syndrome"}
{"db":"OMIM","id":"214450","name":"Griscelli syndrome type 1"}
{"db":"OMIM","id":"607624","name":"Griscelli syndrome type 2"}
{"db":"OMIM","id":"609227","name":"Griscelli syndrome type 3"}
{"db":"OMIM","id":"121900","name":"Groenouw corneal dystrophy type I"}
{"db":"OMIM","id":"610536","name":"Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate"}
{"db":"OMIM","id":"605130","name":"Growth deficiency and mental retardation with facial dysmorphism"}
{"db":"OMIM","id":"245590","name":"Growth hormone insensitivity with immunodeficiency"}
{"db":"OMIM","id":"612938","name":"Growth retardation, developmental delay, coarse facies, and early death"}
{"db":"OMIM","id":"233910","name":"GTP cyclohydrolase I deficiency"}
{"db":"OMIM","id":"245010","name":"Haim-Munk syndrome"}
{"db":"OMIM","id":"102500","name":"Hajdu-Cheney syndrome"}
{"db":"OMIM","id":"140000","name":"Hand foot uterus syndrome"}
{"db":"OMIM","id":"615465","name":"Hartsfield syndrome"}
{"db":"OMIM","id":"106260","name":"Hay-Wells syndrome of ectodermal dysplasia"}
{"db":"OMIM","id":"603903","name":"Hb SS disease"}
{"db":"OMIM","id":"610140","name":"Heart-hand syndrome, Slovenian type"}
{"db":"OMIM","id":"158300","name":"Hecht syndrome"}
{"db":"OMIM","id":"614034","name":"Heme oxygenase 1 deficiency"}
{"db":"OMIM","id":"235200","name":"Hemochromatosis type 1"}
{"db":"OMIM","id":"602390","name":"Hemochromatosis type 2A"}
{"db":"OMIM","id":"613313","name":"Hemochromatosis type 2B"}
{"db":"OMIM","id":"604250","name":"Hemochromatosis type 3"}
{"db":"OMIM","id":"606069","name":"Hemochromatosis type 4"}
{"db":"OMIM","id":"615517","name":"Hemochromatosis, type 5"}
{"db":"OMIM","id":"609070","name":"Hemoglobin, high oxygen saturation of"}
{"db":"OMIM","id":"235700","name":"Hemolytic anemia due to hexokinase deficiency"}
{"db":"OMIM","id":"613470","name":"Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency"}
{"db":"OMIM","id":"603553","name":"Hemophagocytic lymphohistiocytosis, familial, 2"}
{"db":"OMIM","id":"608898","name":"Hemophagocytic lymphohistiocytosis, familial, 3"}
{"db":"OMIM","id":"603552","name":"Hemophagocytic lymphohistiocytosis, familial, 4"}
{"db":"OMIM","id":"613101","name":"Hemophagocytic lymphohistiocytosis, familial, 5"}
{"db":"OMIM","id":"613730","name":"Hemorrhagic destruction of the brain, subependymal calcification, and cataracts"}
{"db":"OMIM","id":"235510","name":"Hennekam lymphangiectasia-lymphedema syndrome"}
{"db":"OMIM","id":"616006","name":"Hennekam lymphangiectasia-lymphedema syndrome 2"}
{"db":"OMIM","id":"612356","name":"Heparin cofactor II deficiency"}
{"db":"OMIM","id":"614025","name":"Hepatic lipase deficiency"}
{"db":"OMIM","id":"235550","name":"Hepatic venoocclusive disease with immunodeficiency"}
{"db":"OMIM","id":"201100","name":"Hereditary acrodermatitis enteropathica"}
{"db":"OMIM","id":"106100","name":"Hereditary angioedema type 1"}
{"db":"OMIM","id":"610618","name":"Hereditary angioneurotic edema with normal C1 esterase inhibitor activity"}
{"db":"OMIM","id":"105150","name":"Hereditary cerebral amyloid angiopathy, Icelandic type"}
{"db":"OMIM","id":"614744","name":"Hereditary congenital facial paresis 3"}
{"db":"OMIM","id":"137215","name":"Hereditary diffuse gastric cancer"}
{"db":"OMIM","id":"221820","name":"Hereditary diffuse leukoencephalopathy with spheroids"}
{"db":"OMIM","id":"306900","name":"Hereditary factor IX deficiency disease"}
{"db":"OMIM","id":"134500","name":"Hereditary factor VIII deficiency disease"}
{"db":"OMIM","id":"306700","name":"Hereditary factor VIII deficiency disease"}
{"db":"OMIM","id":"612416","name":"Hereditary factor XI deficiency disease"}
{"db":"OMIM","id":"229600","name":"Hereditary fructosuria"}
{"db":"OMIM","id":"600376","name":"Hereditary hemorrhagic telangiectasia type 2"}
{"db":"OMIM","id":"256800","name":"Hereditary insensitivity to pain with anhidrosis"}
{"db":"OMIM","id":"150800","name":"Hereditary leiomyomatosis and renal cell cancer"}
{"db":"OMIM","id":"162500","name":"Hereditary liability to pressure palsies"}
{"db":"OMIM","id":"153100","name":"Hereditary lymphedema type I"}
{"db":"OMIM","id":"601228","name":"Hereditary mixed polyposis syndrome 1"}
{"db":"OMIM","id":"610069","name":"Hereditary mixed polyposis syndrome 2"}
{"db":"OMIM","id":"601152","name":"Hereditary motor and sensory neuropathy with optic atrophy"}
{"db":"OMIM","id":"603689","name":"Hereditary myopathy with early respiratory failure"}
{"db":"OMIM","id":"162100","name":"Hereditary neuralgic amyotrophy"}
{"db":"OMIM","id":"162830","name":"Hereditary neutrophilia"}
{"db":"OMIM","id":"614337","name":"Hereditary nonpolyposis colorectal cancer type 4"}
{"db":"OMIM","id":"614350","name":"Hereditary nonpolyposis colorectal cancer type 5"}
{"db":"OMIM","id":"614331","name":"Hereditary nonpolyposis colorectal cancer type 6"}
{"db":"OMIM","id":"614385","name":"Hereditary nonpolyposis colorectal cancer type 7"}
{"db":"OMIM","id":"613244","name":"Hereditary nonpolyposis colorectal cancer type 8"}
{"db":"OMIM","id":"167800","name":"Hereditary pancreatitis"}
{"db":"OMIM","id":"266140","name":"Hereditary pyropoikilocytosis"}
{"db":"OMIM","id":"613115","name":"Hereditary sensory and autonomic neuropathy type IIB"}
{"db":"OMIM","id":"300751","name":"Hereditary sideroblastic anemia"}
{"db":"OMIM","id":"608233","name":"Hermansky Pudlak syndrome 2"}
{"db":"OMIM","id":"203300","name":"Hermansky-Pudlak syndrome 1"}
{"db":"OMIM","id":"614072","name":"Hermansky-Pudlak syndrome 3"}
{"db":"OMIM","id":"614073","name":"Hermansky-Pudlak syndrome 4"}
{"db":"OMIM","id":"614074","name":"Hermansky-Pudlak syndrome 5"}
{"db":"OMIM","id":"614075","name":"Hermansky-Pudlak syndrome 6"}
{"db":"OMIM","id":"614076","name":"Hermansky-Pudlak syndrome 7"}
{"db":"OMIM","id":"614077","name":"Hermansky-Pudlak syndrome 8"}
{"db":"OMIM","id":"614171","name":"Hermansky-Pudlak syndrome 9"}
{"db":"OMIM","id":"605376","name":"Heterotaxy, visceral, 2, autosomal"}
{"db":"OMIM","id":"613751","name":"Heterotaxy, visceral, 4, autosomal"}
{"db":"OMIM","id":"614779","name":"Heterotaxy, visceral, 6, autosomal"}
{"db":"OMIM","id":"306955","name":"Heterotaxy, visceral, X-linked"}
{"db":"OMIM","id":"608097","name":"Heterotopia, periventricular, autosomal recessive"}
{"db":"OMIM","id":"300537","name":"Heterotopia, periventricular, Ehlers-Danlos variant"}
{"db":"OMIM","id":"142690","name":"Hidradenitis suppurativa, familial"}
{"db":"OMIM","id":"129500","name":"Hidrotic ectodermal dysplasia syndrome"}
{"db":"OMIM","id":"228960","name":"High molecular weight kininogen deficiency"}
{"db":"OMIM","id":"142623","name":"Hirschsprung disease 1"}
{"db":"OMIM","id":"613870","name":"Hirschsprung disease, cardiac defects, and autonomic dysfunction"}
{"db":"OMIM","id":"235800","name":"Histidinemia"}
{"db":"OMIM","id":"603554","name":"Histiocytic medullary reticulosis"}
{"db":"OMIM","id":"602782","name":"Histiocytosis-lymphadenopathy plus syndrome"}
{"db":"OMIM","id":"611881","name":"HNSHA due to aldolase A deficiency"}
{"db":"OMIM","id":"236000","name":"Hodgkin lymphoma"}
{"db":"OMIM","id":"253270","name":"Holocarboxylase synthetase deficiency"}
{"db":"OMIM","id":"614226","name":"Holoprosencephaly 11"}
{"db":"OMIM","id":"157170","name":"Holoprosencephaly 2"}
{"db":"OMIM","id":"142945","name":"Holoprosencephaly 3"}
{"db":"OMIM","id":"142946","name":"Holoprosencephaly 4"}
{"db":"OMIM","id":"609637","name":"Holoprosencephaly 5"}
{"db":"OMIM","id":"610828","name":"Holoprosencephaly 7"}
{"db":"OMIM","id":"610829","name":"Holoprosencephaly 9"}
{"db":"OMIM","id":"142900","name":"Holt-Oram syndrome"}
{"db":"OMIM","id":"236250","name":"Homocysteinemia due to MTHFR deficiency"}
{"db":"OMIM","id":"236200","name":"Homocystinuria due to CBS deficiency"}
{"db":"OMIM","id":"236270","name":"Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type"}
{"db":"OMIM","id":"148500","name":"Howel-Evans syndrome"}
{"db":"OMIM","id":"603218","name":"Huntington disease-like 1"}
{"db":"OMIM","id":"606438","name":"Huntington disease-like 2"}
{"db":"OMIM","id":"143100","name":"Huntington's chorea"}
{"db":"OMIM","id":"607014","name":"Hurler syndrome"}
{"db":"OMIM","id":"176670","name":"Hutchinson-Gilford syndrome"}
{"db":"OMIM","id":"228600","name":"Hyaline fibromatosis syndrome"}
{"db":"OMIM","id":"231090","name":"Hydatidiform mole"}
{"db":"OMIM","id":"614293","name":"Hydatidiform mole, recurrent, 2"}
{"db":"OMIM","id":"236600","name":"Hydrocephalus"}
{"db":"OMIM","id":"615219","name":"Hydrocephalus, nonsyndromic, autosomal recessive 2"}
{"db":"OMIM","id":"614120","name":"Hydrolethalus syndrome 2"}
{"db":"OMIM","id":"236800","name":"Hydroxykynureninuria"}
{"db":"OMIM","id":"143470","name":"Hyperalphalipoproteinemia"}
{"db":"OMIM","id":"614028","name":"Hyperalphalipoproteinemia 2"}
{"db":"OMIM","id":"237310","name":"Hyperammonemia, type III"}
{"db":"OMIM","id":"614156","name":"Hyperbiliverdinemia"}
{"db":"OMIM","id":"115300","name":"Hypercarotenemia and vitamin a deficiency, autosomal dominant"}
{"db":"OMIM","id":"143860","name":"Hyperchlorhidrosis, isolated"}
{"db":"OMIM","id":"607748","name":"Hypercholanemia, familial"}
{"db":"OMIM","id":"603776","name":"Hypercholesterolemia, autosomal dominant, 3"}
{"db":"OMIM","id":"603813","name":"Hypercholesterolemia, autosomal recessive"}
{"db":"OMIM","id":"614619","name":"Hyperekplexia 2"}
{"db":"OMIM","id":"614618","name":"Hyperekplexia 3"}
{"db":"OMIM","id":"149400","name":"Hyperekplexia hereditary"}
{"db":"OMIM","id":"600886","name":"Hyperferritinemia cataract syndrome"}
{"db":"OMIM","id":"138500","name":"Hyperglycinuria"}
{"db":"OMIM","id":"260920","name":"Hyperimmunoglobulin D with periodic fever"}
{"db":"OMIM","id":"243700","name":"Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive"}
{"db":"OMIM","id":"147060","name":"Hyperimmunoglobulin E syndrome"}
{"db":"OMIM","id":"602485","name":"Hyperinsulinemic hypoglycemia familial 3"}
{"db":"OMIM","id":"609968","name":"Hyperinsulinemic hypoglycemia familial 5"}
{"db":"OMIM","id":"609975","name":"Hyperinsulinemic hypoglycemia, familial, 4"}
{"db":"OMIM","id":"606762","name":"Hyperinsulinism-hyperammonemia syndrome"}
{"db":"OMIM","id":"144250","name":"Hyperlipidemia, familial combined"}
{"db":"OMIM","id":"238600","name":"Hyperlipoproteinemia, type I"}
{"db":"OMIM","id":"615947","name":"HYPERLIPOPROTEINEMIA, TYPE ID"}
{"db":"OMIM","id":"238700","name":"Hyperlysinemia"}
{"db":"OMIM","id":"613280","name":"Hypermanganesemia with dystonia, polycythemia and cirrhosis"}
{"db":"OMIM","id":"614300","name":"Hypermethioninemia due to adenosine kinase deficiency"}
{"db":"OMIM","id":"613752","name":"Hypermethioninemia with s-adenosylhomocysteine hydrolase deficiency"}
{"db":"OMIM","id":"238970","name":"Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome"}
{"db":"OMIM","id":"145000","name":"Hyperparathyroidism 1"}
{"db":"OMIM","id":"145001","name":"Hyperparathyroidism 2"}
{"db":"OMIM","id":"264070","name":"Hyperphenylalaninemia, BH4-deficient, D"}
{"db":"OMIM","id":"239100","name":"Hyperphosphatasemia tarda"}
{"db":"OMIM","id":"239000","name":"Hyperphosphatasemia with bone disease"}
{"db":"OMIM","id":"239300","name":"Hyperphosphatasia with mental retardation syndrome 1"}
{"db":"OMIM","id":"614749","name":"Hyperphosphatasia with mental retardation syndrome 2"}
{"db":"OMIM","id":"614207","name":"Hyperphosphatasia with mental retardation syndrome 3"}
{"db":"OMIM","id":"615716","name":"Hyperphosphatasia with mental retardation syndrome 4"}
{"db":"OMIM","id":"616025","name":"Hyperphosphatasia with mental retardation syndrome 5"}
{"db":"OMIM","id":"145250","name":"Hyperpigmentation, familial progressive, 2"}
{"db":"OMIM","id":"616214","name":"Hyperproinsulinemia"}
{"db":"OMIM","id":"615555","name":"Hyperprolactinemia"}
{"db":"OMIM","id":"611174","name":"Hypertelorism, severe, with midface prominence, myopia, mental retardation, and bone fragility"}
{"db":"OMIM","id":"608622","name":"Hypertension, diastolic, resistance to"}
{"db":"OMIM","id":"603373","name":"Hyperthyroidism, familial gestational"}
{"db":"OMIM","id":"609152","name":"Hyperthyroidism, nonautoimmune"}
{"db":"OMIM","id":"239850","name":"Hypertrichotic osteochondrodysplasia"}
{"db":"OMIM","id":"614480","name":"Hypertriglyceridemia, transient infantile"}
{"db":"OMIM","id":"613845","name":"Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis"}
{"db":"OMIM","id":"613092","name":"Hyperuricemic nephropathy, familial juvenile, 2"}
{"db":"OMIM","id":"605019","name":"Hypobetalipoproteinemia, familial, 2"}
{"db":"OMIM","id":"601198","name":"Hypocalcemia, autosomal dominant 1"}
{"db":"OMIM","id":"615361","name":"Hypocalcemia, autosomal dominant 2"}
{"db":"OMIM","id":"145981","name":"Hypocalciuric hypercalcemia, familial, type 2"}
{"db":"OMIM","id":"600740","name":"Hypocalciuric hypercalcemia, familial, type 3"}
{"db":"OMIM","id":"146000","name":"Hypochondroplasia"}
{"db":"OMIM","id":"206100","name":"Hypochromic microcytic anemia with iron overload"}
{"db":"OMIM","id":"615234","name":"Hypochromic microcytic anemia with iron overload 2"}
{"db":"OMIM","id":"240600","name":"Hypoglycemia with deficiency of glycogen synthetase in the liver"}
{"db":"OMIM","id":"241080","name":"Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities"}
{"db":"OMIM","id":"146110","name":"Hypogonadotropic hypogonadism"}
{"db":"OMIM","id":"614839","name":"Hypogonadotropic hypogonadism 10 with or without anosmia"}
{"db":"OMIM","id":"614840","name":"Hypogonadotropic hypogonadism 11 with or without anosmia"}
{"db":"OMIM","id":"614841","name":"Hypogonadotropic hypogonadism 12 with or without anosmia"}
{"db":"OMIM","id":"227200","name":"Hypogonadotropic hypogonadism 12 with or without anosmia"}
{"db":"OMIM","id":"614842","name":"Hypogonadotropic hypogonadism 13 with or without anosmia"}
{"db":"OMIM","id":"614858","name":"Hypogonadotropic hypogonadism 14 with or without anosmia"}
{"db":"OMIM","id":"615266","name":"Hypogonadotropic hypogonadism 17 with or without anosmia"}
{"db":"OMIM","id":"615269","name":"Hypogonadotropic hypogonadism 19 with or without anosmia"}
{"db":"OMIM","id":"615270","name":"Hypogonadotropic hypogonadism 20 with or without anosmia"}
{"db":"OMIM","id":"615271","name":"Hypogonadotropic hypogonadism 21 with or without anosmia"}
{"db":"OMIM","id":"300291","name":"Hypohidrotic ectodermal dysplasia with immune deficiency"}
{"db":"OMIM","id":"305100","name":"Hypohidrotic X-linked ectodermal dysplasia"}
{"db":"OMIM","id":"170400","name":"Hypokalemic periodic paralysis 1"}
{"db":"OMIM","id":"613345","name":"Hypokalemic periodic paralysis, type 2"}
{"db":"OMIM","id":"602014","name":"Hypomagnesemia 1, intestinal"}
{"db":"OMIM","id":"154020","name":"Hypomagnesemia 2, renal"}
{"db":"OMIM","id":"611718","name":"Hypomagnesemia 4, renal"}
{"db":"OMIM","id":"248190","name":"Hypomagnesemia 5, renal, with ocular involvement"}
{"db":"OMIM","id":"613882","name":"Hypomagnesemia 6, renal"}
{"db":"OMIM","id":"607694","name":"Hypomyelinating leukodystrophy 7"}
{"db":"OMIM","id":"614381","name":"Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism"}
{"db":"OMIM","id":"610532","name":"Hypomyelination and Congenital Cataract"}
{"db":"OMIM","id":"615281","name":"Hypomyelination with brainstem and spinal cord involvement and leg spasticity"}
{"db":"OMIM","id":"612949","name":"Hypomyelination, global cerebral"}
{"db":"OMIM","id":"146200","name":"Hypoparathyroidism familial isolated"}
{"db":"OMIM","id":"241410","name":"Hypoparathyroidism retardation dysmorphism syndrome"}
{"db":"OMIM","id":"613312","name":"Hypophosphatemic rickets, autosomal recessive, 2"}
{"db":"OMIM","id":"300554","name":"Hypophosphatemic rickets, X-linked recessive"}
{"db":"OMIM","id":"189500","name":"Hypoplastic enamel-onycholysis-hypohidrosis syndrome"}
{"db":"OMIM","id":"241550","name":"Hypoplastic left heart syndrome"}
{"db":"OMIM","id":"614435","name":"Hypoplastic left heart syndrome 2"}
{"db":"OMIM","id":"607236","name":"Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration"}
{"db":"OMIM","id":"241600","name":"Hypoproteinemia, hypercatabolic"}
{"db":"OMIM","id":"300633","name":"Hypospadias 1, X-linked"}
{"db":"OMIM","id":"300758","name":"Hypospadias 2, X-linked"}
{"db":"OMIM","id":"300888","name":"Hypothyroidism, central, and testicular enlargement"}
{"db":"OMIM","id":"275200","name":"Hypothyroidism, congenital, nongoitrous, 1"}
{"db":"OMIM","id":"225250","name":"Hypothyroidism, congenital, nongoitrous, 5"}
{"db":"OMIM","id":"614450","name":"Hypothyroidism, congenital, nongoitrous, 6"}
{"db":"OMIM","id":"615059","name":"Hypotrichosis 11"}
{"db":"OMIM","id":"615885","name":"Hypotrichosis 12"}
{"db":"OMIM","id":"146520","name":"Hypotrichosis 2"}
{"db":"OMIM","id":"613981","name":"Hypotrichosis 3"}
{"db":"OMIM","id":"607903","name":"Hypotrichosis 6"}
{"db":"OMIM","id":"613102","name":"Hypotrichosis and recurrent skin vesicles"}
{"db":"OMIM","id":"605389","name":"Hypotrichosis simplex"}
{"db":"OMIM","id":"607823","name":"Hypotrichosis-lymphedema-telangiectasia syndrome"}
{"db":"OMIM","id":"602540","name":"Hystrix-like ichthyosis with deafness"}
{"db":"OMIM","id":"110800","name":"I blood group system"}
{"db":"OMIM","id":"252500","name":"I cell disease"}
{"db":"OMIM","id":"146800","name":"Ichthyosis bullosa of Siemens"}
{"db":"OMIM","id":"608649","name":"Ichthyosis prematurity syndrome"}
{"db":"OMIM","id":"146700","name":"Ichthyosis vulgaris"}
{"db":"OMIM","id":"607602","name":"Ichthyosis, cyclic, with epidermolytic hyperkeratosis"}
{"db":"OMIM","id":"602400","name":"Ichthyosis, follicular atrophoderma, hypotrichosis, and hypohidrosis"}
{"db":"OMIM","id":"607626","name":"Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis"}
{"db":"OMIM","id":"614457","name":"Ichthyosis, spastic quadriplegia, and mental retardation"}
{"db":"OMIM","id":"213600","name":"Idiopathic basal ganglia calcification 1"}
{"db":"OMIM","id":"615483","name":"Idiopathic basal ganglia calcification 5"}
{"db":"OMIM","id":"178500","name":"Idiopathic fibrosing alveolitis, chronic form"}
{"db":"OMIM","id":"143880","name":"Idiopathic hypercalcemia of infancy"}
{"db":"OMIM","id":"308205","name":"IFAP syndrome with or without BRESHECK syndrome"}
{"db":"OMIM","id":"615207","name":"IL21R immunodeficiency"}
{"db":"OMIM","id":"242600","name":"Iminoglycinuria"}
{"db":"OMIM","id":"612782","name":"Immune dysfunction with T-cell inactivation due to calcium entry defect 1"}
{"db":"OMIM","id":"612783","name":"Immune dysfunction with T-cell inactivation due to calcium entry defect 2"}
{"db":"OMIM","id":"615468","name":"Immunodeficiency 12"}
{"db":"OMIM","id":"615518","name":"Immunodeficiency 13"}
{"db":"OMIM","id":"615592","name":"Immunodeficiency 15"}
{"db":"OMIM","id":"615593","name":"Immunodeficiency 16"}
{"db":"OMIM","id":"615607","name":"Immunodeficiency 17"}
{"db":"OMIM","id":"615615","name":"Immunodeficiency 18"}
{"db":"OMIM","id":"615617","name":"Immunodeficiency 19"}
{"db":"OMIM","id":"615707","name":"Immunodeficiency 20"}
{"db":"OMIM","id":"615758","name":"Immunodeficiency 22"}
{"db":"OMIM","id":"615816","name":"Immunodeficiency 23"}
{"db":"OMIM","id":"615897","name":"Immunodeficiency 24"}
{"db":"OMIM","id":"615966","name":"Immunodeficiency 26 with or without neurologic abnormalities"}
{"db":"OMIM","id":"614889","name":"Immunodeficiency 28"}
{"db":"OMIM","id":"614891","name":"Immunodeficiency 30"}
{"db":"OMIM","id":"614162","name":"Immunodeficiency 31C"}
{"db":"OMIM","id":"616005","name":"Immunodeficiency 36"}
{"db":"OMIM","id":"616098","name":"Immunodeficiency 37"}
{"db":"OMIM","id":"616126","name":"Immunodeficiency 38"}
{"db":"OMIM","id":"615401","name":"Immunodeficiency 8"}
{"db":"OMIM","id":"610163","name":"Immunodeficiency due to defect in cd3-zeta"}
{"db":"OMIM","id":"610798","name":"Immunodeficiency due to defect in mapbp-interacting protein"}
{"db":"OMIM","id":"613860","name":"Immunodeficiency due to ficolin 3 deficiency"}
{"db":"OMIM","id":"308230","name":"Immunodeficiency with hyper IgM type 1"}
{"db":"OMIM","id":"605258","name":"Immunodeficiency with hyper IgM type 2"}
{"db":"OMIM","id":"606843","name":"Immunodeficiency with hyper IgM type 3"}
{"db":"OMIM","id":"608106","name":"Immunodeficiency with hyper IgM type 5"}
{"db":"OMIM","id":"300584","name":"Immunodeficiency without anhidrotic ectodermal dysplasia"}
{"db":"OMIM","id":"300853","name":"Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia"}
{"db":"OMIM","id":"614069","name":"Immunodeficiency-centromeric instability-facial anomalies syndrome 2"}
{"db":"OMIM","id":"609529","name":"Immunoglobulin A deficiency 2"}
{"db":"OMIM","id":"614102","name":"Immunoglobulin kappa light chain deficiency"}
{"db":"OMIM","id":"600737","name":"Inclusion body myopathy 2"}
{"db":"OMIM","id":"605637","name":"Inclusion body myopathy 3"}
{"db":"OMIM","id":"167320","name":"Inclusion body myopathy with early-onset paget disease and frontotemporal dementia"}
{"db":"OMIM","id":"308300","name":"Incontinentia pigmenti syndrome"}
{"db":"OMIM","id":"243000","name":"Indifference to pain, congenital, autosomal recessive"}
{"db":"OMIM","id":"614559","name":"Infantile cerebellar-retinal degeneration"}
{"db":"OMIM","id":"602066","name":"Infantile convulsions and paroxysmal choreoathetosis, familial"}
{"db":"OMIM","id":"114000","name":"Infantile cortical hyperostosis"}
{"db":"OMIM","id":"230500","name":"Infantile GM1 gangliosidosis"}
{"db":"OMIM","id":"241500","name":"Infantile hypophosphatasia"}
{"db":"OMIM","id":"615438","name":"Infantile liver failure syndrome 1"}
{"db":"OMIM","id":"228550","name":"Infantile myofibromatosis 1"}
{"db":"OMIM","id":"615293","name":"Infantile myofibromatosis 2"}
{"db":"OMIM","id":"602088","name":"Infantile nephronophthisis"}
{"db":"OMIM","id":"256600","name":"Infantile neuroaxonal dystrophy"}
{"db":"OMIM","id":"615419","name":"Infantile neuroaxonal neurodegeneration with facial dysmorphism"}
{"db":"OMIM","id":"310700","name":"Infantile nystagmus, X-linked"}
{"db":"OMIM","id":"613135","name":"Infantile Parkinsonism-dystonia"}
{"db":"OMIM","id":"607225","name":"Infantile-onset ascending hereditary spastic paralysis"}
{"db":"OMIM","id":"243060","name":"Infertility associated with multi-tailed spermatozoa and excessive DNA"}
{"db":"OMIM","id":"612567","name":"Inflammatory bowel disease 25, autosomal recessive"}
{"db":"OMIM","id":"614328","name":"Inflammatory skin and bowel disease, neonatal 1"}
{"db":"OMIM","id":"616069","name":"Inflammatory skin and bowel disease, neonatal, 2"}
{"db":"OMIM","id":"304790","name":"Insulin-dependent diabetes mellitus secretory diarrhea syndrome"}
{"db":"OMIM","id":"270450","name":"Insulin-like growth factor 1 resistance to"}
{"db":"OMIM","id":"608747","name":"Insulin-like growth factor I deficiency"}
{"db":"OMIM","id":"610549","name":"Insulin-resistant diabetes mellitus AND acanthosis nigricans"}
{"db":"OMIM","id":"190440","name":"Interfrontal craniofaciosynostosis"}
{"db":"OMIM","id":"606367","name":"Interleukin 2 receptor, alpha, deficiency of"}
{"db":"OMIM","id":"614748","name":"Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital"}
{"db":"OMIM","id":"614817","name":"Interstitial nephritis, karyomegalic"}
{"db":"OMIM","id":"300048","name":"Intestinal pseudoobstruction neuronal chronic idiopathic X-linked"}
{"db":"OMIM","id":"614732","name":"Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies"}
{"db":"OMIM","id":"261000","name":"Intrinsic factor deficiency"}
{"db":"OMIM","id":"610799","name":"Invasive pneumococcal disease, recurrent isolated, 1"}
{"db":"OMIM","id":"300640","name":"Invasive pneumococcal disease, recurrent isolated, 2"}
{"db":"OMIM","id":"274800","name":"Iodotyrosine deiodination defect"}
{"db":"OMIM","id":"274700","name":"Iodotyrosyl coupling defect"}
{"db":"OMIM","id":"607676","name":"IRAK4 deficiency"}
{"db":"OMIM","id":"604229","name":"Irido-corneo-trabecular dysgenesis"}
{"db":"OMIM","id":"601631","name":"Iridogoniodysgenesis type1"}
{"db":"OMIM","id":"137600","name":"Iridogoniodysgenesis, dominant type"}
{"db":"OMIM","id":"243310","name":"Iris coloboma with ptosis, hypertelorism, and mental retardation"}
{"db":"OMIM","id":"308500","name":"Iris hypoplasia and glaucoma"}
{"db":"OMIM","id":"147891","name":"Ischiopatellar dysplasia"}
{"db":"OMIM","id":"601820","name":"Islet cell hyperplasia"}
{"db":"OMIM","id":"612781","name":"Isolated growth hormone deficiency type 1B"}
{"db":"OMIM","id":"228300","name":"Isolated lutropin deficiency"}
{"db":"OMIM","id":"243500","name":"Isovaleryl-CoA dehydrogenase deficiency"}
{"db":"OMIM","id":"147750","name":"IVIC syndrome"}
{"db":"OMIM","id":"123150","name":"Jackson-Weiss syndrome"}
{"db":"OMIM","id":"123400","name":"Jakob-Creutzfeldt disease"}
{"db":"OMIM","id":"159950","name":"Jankovic Rivera syndrome"}
{"db":"OMIM","id":"277300","name":"Jarcho-Levin syndrome"}
{"db":"OMIM","id":"311150","name":"Jensen syndrome"}
{"db":"OMIM","id":"220400","name":"Jervell and Lange-Nielsen syndrome"}
{"db":"OMIM","id":"612347","name":"Jervell and Lange-Nielsen syndrome 2"}
{"db":"OMIM","id":"243800","name":"Johanson-Blizzard syndrome"}
{"db":"OMIM","id":"300804","name":"Joubert syndrome 10"}
{"db":"OMIM","id":"614173","name":"Joubert syndrome 13"}
{"db":"OMIM","id":"614424","name":"Joubert syndrome 14"}
{"db":"OMIM","id":"614464","name":"Joubert syndrome 15"}
{"db":"OMIM","id":"614465","name":"Joubert syndrome 16"}
{"db":"OMIM","id":"614615","name":"Joubert syndrome 17"}
{"db":"OMIM","id":"614815","name":"Joubert syndrome 18"}
{"db":"OMIM","id":"608091","name":"Joubert syndrome 2"}
{"db":"OMIM","id":"614970","name":"Joubert syndrome 20"}
{"db":"OMIM","id":"615636","name":"Joubert syndrome 21"}
{"db":"OMIM","id":"615665","name":"Joubert syndrome 22"}
{"db":"OMIM","id":"608629","name":"Joubert syndrome 3"}
{"db":"OMIM","id":"609583","name":"Joubert syndrome 4"}
{"db":"OMIM","id":"610188","name":"Joubert syndrome 5"}
{"db":"OMIM","id":"610688","name":"Joubert syndrome 6"}
{"db":"OMIM","id":"611560","name":"Joubert syndrome 7"}
{"db":"OMIM","id":"612291","name":"Joubert syndrome 8"}
{"db":"OMIM","id":"612285","name":"Joubert syndrome 9"}
{"db":"OMIM","id":"226700","name":"Junctional epidermolysis bullosa gravis of Herlitz"}
{"db":"OMIM","id":"230600","name":"Juvenile GM>1< gangliosidosis"}
{"db":"OMIM","id":"601553","name":"Juvenile macular degeneration and hypotrichosis"}
{"db":"OMIM","id":"607785","name":"Juvenile myelomonocytic leukemia"}
{"db":"OMIM","id":"540000","name":"Juvenile myopathy, encephalopathy, lactic acidosis AND stroke"}
{"db":"OMIM","id":"219900","name":"Juvenile nephropathic cystinosis"}
{"db":"OMIM","id":"204200","name":"Juvenile neuronal ceroid lipofuscinosis"}
{"db":"OMIM","id":"174900","name":"Juvenile polyposis syndrome"}
{"db":"OMIM","id":"175050","name":"Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome"}
{"db":"OMIM","id":"606353","name":"Juvenile primary lateral sclerosis"}
{"db":"OMIM","id":"312700","name":"Juvenile retinoschisis"}
{"db":"OMIM","id":"607371","name":"Juvenile-onset dystonia"}
{"db":"OMIM","id":"147920","name":"Kabuki make-up syndrome"}
{"db":"OMIM","id":"300867","name":"Kabuki syndrome 2"}
{"db":"OMIM","id":"612713","name":"Kahrizi syndrome"}
{"db":"OMIM","id":"308700","name":"Kallmann syndrome 1"}
{"db":"OMIM","id":"147950","name":"Kallmann syndrome 2"}
{"db":"OMIM","id":"244200","name":"Kallmann syndrome 3"}
{"db":"OMIM","id":"610628","name":"Kallmann syndrome 4"}
{"db":"OMIM","id":"612370","name":"Kallmann syndrome 5"}
{"db":"OMIM","id":"612702","name":"Kallmann syndrome 6"}
{"db":"OMIM","id":"609242","name":"Kanzaki disease"}
{"db":"OMIM","id":"244400","name":"Kartagener syndrome"}
{"db":"OMIM","id":"244450","name":"Kaufman oculocerebrofacial syndrome"}
{"db":"OMIM","id":"148050","name":"KBG syndrome"}
{"db":"OMIM","id":"530000","name":"Kearns Sayre syndrome"}
{"db":"OMIM","id":"244460","name":"Kenny-Caffey syndrome type 1"}
{"db":"OMIM","id":"127000","name":"Kenny-Caffey syndrome type 2"}
{"db":"OMIM","id":"148210","name":"Keratitis-ichthyosis-deafness syndrome, autosomal dominant"}
{"db":"OMIM","id":"148300","name":"Keratoconus 1"}
{"db":"OMIM","id":"148350","name":"Keratoderma palmoplantar deafness"}
{"db":"OMIM","id":"124200","name":"Keratosis follicularis"}
{"db":"OMIM","id":"601952","name":"Keratosis linearis with ichthyosis congenita and sclerosing keratoderma"}
{"db":"OMIM","id":"148600","name":"Keratosis palmoplantaris papulosa"}
{"db":"OMIM","id":"148700","name":"Keratosis palmoplantaris striata 1"}
{"db":"OMIM","id":"607654","name":"Keratosis palmoplantaris striata 3"}
{"db":"OMIM","id":"612908","name":"KERATOSIS PALMOPLANTARIS STRIATA II"}
{"db":"OMIM","id":"308800","name":"Keratosis pilaris decalvans"}
{"db":"OMIM","id":"245150","name":"Keutel syndrome"}
{"db":"OMIM","id":"173650","name":"Kindler's syndrome"}
{"db":"OMIM","id":"148820","name":"Klein-Waardenberg's syndrome"}
{"db":"OMIM","id":"118100","name":"Klippel-Feil syndrome 1, autosomal dominant"}
{"db":"OMIM","id":"214300","name":"Klippel-Feil syndrome 2, autosomal recessive"}
{"db":"OMIM","id":"613702","name":"Klippel-Feil syndrome 3, autosomal dominant"}
{"db":"OMIM","id":"156550","name":"Kniest dysplasia"}
{"db":"OMIM","id":"267750","name":"Knobloch syndrome 1"}
{"db":"OMIM","id":"149200","name":"Knuckle pads, deafness AND leukonychia syndrome"}
{"db":"OMIM","id":"226750","name":"Kohlschutter's syndrome"}
{"db":"OMIM","id":"262650","name":"Kowarski syndrome"}
{"db":"OMIM","id":"611722","name":"Krabbe disease atypical due to Saposin A deficiency"}
{"db":"OMIM","id":"253400","name":"Kugelberg-Welander disease"}
{"db":"OMIM","id":"236792","name":"L-2-hydroxyglutaric aciduria"}
{"db":"OMIM","id":"615604","name":"L-ferritin deficiency"}
{"db":"OMIM","id":"149700","name":"Lacrimal duct defect"}
{"db":"OMIM","id":"254780","name":"Lafora disease"}
{"db":"OMIM","id":"249700","name":"Langer mesomelic dysplasia syndrome"}
{"db":"OMIM","id":"262500","name":"Laron-type isolated somatotropin defect"}
{"db":"OMIM","id":"245660","name":"Laryngoonychocutaneous syndrome"}
{"db":"OMIM","id":"605670","name":"Late-onset retinal degeneration"}
{"db":"OMIM","id":"607330","name":"Lathosterolosis"}
{"db":"OMIM","id":"608471","name":"Lattice corneal dystrophy type 3A"}
{"db":"OMIM","id":"122200","name":"Lattice corneal dystrophy Type I"}
{"db":"OMIM","id":"204870","name":"Lattice corneal dystrophy Type III"}
{"db":"OMIM","id":"135750","name":"Laurin-Sandrow syndrome"}
{"db":"OMIM","id":"204000","name":"Leber congenital amaurosis 1"}
{"db":"OMIM","id":"611755","name":"Leber congenital amaurosis 10"}
{"db":"OMIM","id":"613837","name":"Leber congenital amaurosis 11"}
{"db":"OMIM","id":"610612","name":"Leber congenital amaurosis 12"}
{"db":"OMIM","id":"612712","name":"Leber congenital amaurosis 13"}
{"db":"OMIM","id":"613341","name":"Leber congenital amaurosis 14"}
{"db":"OMIM","id":"613843","name":"Leber congenital amaurosis 15"}
{"db":"OMIM","id":"614186","name":"Leber congenital amaurosis 16"}
{"db":"OMIM","id":"615360","name":"Leber congenital amaurosis 17"}
{"db":"OMIM","id":"204100","name":"Leber congenital amaurosis 2"}
{"db":"OMIM","id":"604232","name":"Leber congenital amaurosis 3"}
{"db":"OMIM","id":"604393","name":"Leber congenital amaurosis 4"}
{"db":"OMIM","id":"604537","name":"Leber congenital amaurosis 5"}
{"db":"OMIM","id":"613826","name":"Leber congenital amaurosis 6"}
{"db":"OMIM","id":"613829","name":"Leber congenital amaurosis 7"}
{"db":"OMIM","id":"613835","name":"Leber congenital amaurosis 8"}
{"db":"OMIM","id":"608553","name":"Leber congenital amaurosis 9"}
{"db":"OMIM","id":"500001","name":"Leber hereditary optic neuropathy with dystonia"}
{"db":"OMIM","id":"535000","name":"Leber's optic atrophy"}
{"db":"OMIM","id":"604169","name":"Left ventricular noncompaction 1"}
{"db":"OMIM","id":"615396","name":"Left ventricular noncompaction 10"}
{"db":"OMIM","id":"601494","name":"Left ventricular noncompaction 6"}
{"db":"OMIM","id":"615092","name":"Left ventricular noncompaction 7"}
{"db":"OMIM","id":"615373","name":"Left ventricular noncompaction 8"}
{"db":"OMIM","id":"611431","name":"Legius syndrome"}
{"db":"OMIM","id":"220111","name":"Leigh syndrome, French Canadian type"}
{"db":"OMIM","id":"256000","name":"Leigh's disease"}
{"db":"OMIM","id":"609536","name":"Leiner disease"}
{"db":"OMIM","id":"309800","name":"Lenz microphthalmia syndrome"}
{"db":"OMIM","id":"151050","name":"Lenz-Majewski hyperostosis syndrome"}
{"db":"OMIM","id":"151100","name":"LEOPARD syndrome 1"}
{"db":"OMIM","id":"611554","name":"LEOPARD syndrome 2"}
{"db":"OMIM","id":"613707","name":"LEOPARD syndrome 3"}
{"db":"OMIM","id":"246200","name":"Leprechaunism syndrome"}
{"db":"OMIM","id":"614963","name":"Leptin receptor deficiency"}
{"db":"OMIM","id":"127300","name":"Leri Weill dyschondrosteosis"}
{"db":"OMIM","id":"300322","name":"Lesch-Nyhan syndrome"}
{"db":"OMIM","id":"611369","name":"Lethal congenital contractural syndrome 3"}
{"db":"OMIM","id":"253310","name":"Lethal congenital contracture syndrome 1"}
{"db":"OMIM","id":"607598","name":"Lethal congenital contracture syndrome 2"}
{"db":"OMIM","id":"614915","name":"Lethal congenital contracture syndrome 4"}
{"db":"OMIM","id":"615368","name":"Lethal congenital contracture syndrome 5"}
{"db":"OMIM","id":"616248","name":"Lethal congenital contracture syndrome 6"}
{"db":"OMIM","id":"224410","name":"Lethal Kniest-like syndrome"}
{"db":"OMIM","id":"253290","name":"Lethal multiple pterygium syndrome"}
{"db":"OMIM","id":"275210","name":"Lethal tight skin contracture syndrome"}
{"db":"OMIM","id":"240800","name":"Leucine-induced hypoglycemia"}
{"db":"OMIM","id":"116920","name":"Leukocyte adhesion deficiency type 1"}
{"db":"OMIM","id":"612840","name":"LEUKOCYTE ADHESION DEFICIENCY, TYPE III"}
{"db":"OMIM","id":"169500","name":"Leukodystrophy, adult-onset, autosomal dominant"}
{"db":"OMIM","id":"260600","name":"Leukodystrophy, hypomyelinating 3"}
{"db":"OMIM","id":"608804","name":"Leukodystrophy, hypomyelinating, 2"}
{"db":"OMIM","id":"612233","name":"Leukodystrophy, hypomyelinating, 4"}
{"db":"OMIM","id":"612438","name":"Leukodystrophy, hypomyelinating, 6"}
{"db":"OMIM","id":"616140","name":"Leukodystrophy, hypomyelinating, 9"}
{"db":"OMIM","id":"615651","name":"Leukoencephalopathy with ataxia"}
{"db":"OMIM","id":"611105","name":"Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation"}
{"db":"OMIM","id":"613724","name":"Leukoencephalopathy with dystonia and motor neuropathy"}
{"db":"OMIM","id":"603896","name":"Leukoencephalopathy with vanishing white matter"}
{"db":"OMIM","id":"612951","name":"Leukoencephalopathy, cystic, without megalencephaly"}
{"db":"OMIM","id":"615889","name":"Leukoencephalopathy, progressive, with ovarian failure"}
{"db":"OMIM","id":"151600","name":"Leukonychia totalis"}
{"db":"OMIM","id":"127750","name":"Lewy body dementia"}
{"db":"OMIM","id":"238320","name":"Leydig cell agenesis"}
{"db":"OMIM","id":"151623","name":"Li-Fraumeni syndrome 1"}
{"db":"OMIM","id":"609265","name":"Li-Fraumeni syndrome 2"}
{"db":"OMIM","id":"606593","name":"Lig4 syndrome"}
{"db":"OMIM","id":"159000","name":"Limb-girdle muscular dystrophy, type 1A"}
{"db":"OMIM","id":"159001","name":"Limb-girdle muscular dystrophy, type 1B"}
{"db":"OMIM","id":"607801","name":"Limb-girdle muscular dystrophy, type 1C"}
{"db":"OMIM","id":"603511","name":"Limb-girdle muscular dystrophy, type 1E"}
{"db":"OMIM","id":"608423","name":"Limb-girdle muscular dystrophy, type 1F"}
{"db":"OMIM","id":"609115","name":"Limb-girdle muscular dystrophy, type 1G"}
{"db":"OMIM","id":"253600","name":"Limb-girdle muscular dystrophy, type 2A"}
{"db":"OMIM","id":"253601","name":"Limb-girdle muscular dystrophy, type 2B"}
{"db":"OMIM","id":"608099","name":"Limb-girdle muscular dystrophy, type 2D"}
{"db":"OMIM","id":"604286","name":"Limb-girdle muscular dystrophy, type 2E"}
{"db":"OMIM","id":"601287","name":"Limb-girdle muscular dystrophy, type 2F"}
{"db":"OMIM","id":"601954","name":"Limb-girdle muscular dystrophy, type 2G"}
{"db":"OMIM","id":"608807","name":"Limb-girdle muscular dystrophy, type 2J"}
{"db":"OMIM","id":"611307","name":"Limb-girdle muscular dystrophy, type 2L"}
{"db":"OMIM","id":"613723","name":"Limb-girdle muscular dystrophy, type 2Q"}
{"db":"OMIM","id":"615356","name":"Limb-girdle muscular dystrophy, type 2S"}
{"db":"OMIM","id":"609308","name":"Limb-girdle muscular dystrophy-dystroglycanopathy, type C1"}
{"db":"OMIM","id":"615352","name":"Limb-girdle muscular dystrophy-dystroglycanopathy, type C14"}
{"db":"OMIM","id":"613158","name":"Limb-girdle muscular dystrophy-dystroglycanopathy, type C2"}
{"db":"OMIM","id":"613157","name":"Limb-girdle muscular dystrophy-dystroglycanopathy, type C3"}
{"db":"OMIM","id":"611588","name":"Limb-girdle muscular dystrophy-dystroglycanopathy, type C4"}
{"db":"OMIM","id":"607155","name":"Limb-girdle muscular dystrophy-dystroglycanopathy, type C5"}
{"db":"OMIM","id":"616052","name":"Limb-girdle muscular dystrophy-dystroglycanopathy, type C7"}
{"db":"OMIM","id":"613818","name":"Limb-girdle muscular dystrophy-dystroglycanopathy, type C9"}
{"db":"OMIM","id":"603543","name":"Limb-mammary syndrome"}
{"db":"OMIM","id":"246650","name":"Lipase deficiency combined"}
{"db":"OMIM","id":"247100","name":"Lipid proteinosis"}
{"db":"OMIM","id":"612526","name":"Lipodystrophy, congenital generalized, type 3"}
{"db":"OMIM","id":"613327","name":"Lipodystrophy, congenital generalized, type 4"}
{"db":"OMIM","id":"151660","name":"Lipodystrophy, familial partial, type 2"}
{"db":"OMIM","id":"604367","name":"Lipodystrophy, familial partial, type 3"}
{"db":"OMIM","id":"613877","name":"Lipodystrophy, familial partial, type 4"}
{"db":"OMIM","id":"615238","name":"Lipodystrophy, familial partial, type 5"}
{"db":"OMIM","id":"611771","name":"Lipoprotein glomerulopathy"}
{"db":"OMIM","id":"607432","name":"Lissencephaly 1"}
{"db":"OMIM","id":"257320","name":"Lissencephaly 2"}
{"db":"OMIM","id":"300215","name":"Lissencephaly 2, X-linked"}
{"db":"OMIM","id":"611603","name":"Lissencephaly 3"}
{"db":"OMIM","id":"614019","name":"Lissencephaly 4"}
{"db":"OMIM","id":"615191","name":"Lissencephaly 5"}
{"db":"OMIM","id":"616212","name":"Lissencephaly 6, with microcephaly"}
{"db":"OMIM","id":"300067","name":"Lissencephaly, X-linked"}
{"db":"OMIM","id":"613070","name":"Liver failure acute infantile"}
{"db":"OMIM","id":"609192","name":"Loeys-Dietz syndrome 1"}
{"db":"OMIM","id":"608967","name":"Loeys-Dietz syndrome 1"}
{"db":"OMIM","id":"610168","name":"Loeys-Dietz syndrome 2"}
{"db":"OMIM","id":"613795","name":"Loeys-Dietz syndrome 3"}
{"db":"OMIM","id":"614816","name":"Loeys-Dietz syndrome 4"}
{"db":"OMIM","id":"192500","name":"Long QT syndrome 1"}
{"db":"OMIM","id":"611819","name":"Long QT syndrome 10"}
{"db":"OMIM","id":"611820","name":"Long QT syndrome 11"}
{"db":"OMIM","id":"612955","name":"Long QT syndrome 12"}
{"db":"OMIM","id":"613485","name":"Long QT syndrome 13"}
{"db":"OMIM","id":"616247","name":"Long QT syndrome 14"}
{"db":"OMIM","id":"616249","name":"Long QT syndrome 15"}
{"db":"OMIM","id":"613688","name":"Long QT syndrome 2"}
{"db":"OMIM","id":"603830","name":"Long QT syndrome 3"}
{"db":"OMIM","id":"613695","name":"Long QT syndrome 5"}
{"db":"OMIM","id":"613693","name":"Long QT syndrome 6"}
{"db":"OMIM","id":"611818","name":"Long QT syndrome 9"}
{"db":"OMIM","id":"309000","name":"Lowe syndrome"}
{"db":"OMIM","id":"237900","name":"Lucey-Driscoll syndrome"}
{"db":"OMIM","id":"211980","name":"Lung cancer"}
{"db":"OMIM","id":"606690","name":"Lymphangiomyomatosis"}
{"db":"OMIM","id":"613480","name":"Lymphedema, hereditary, ic"}
{"db":"OMIM","id":"615907","name":"Lymphedema, hereditary, id"}
{"db":"OMIM","id":"614038","name":"Lymphedema, primary, with myelodysplasia"}
{"db":"OMIM","id":"613011","name":"Lymphoproliferative syndrome 1"}
{"db":"OMIM","id":"308240","name":"Lymphoproliferative syndrome 1, X-linked"}
{"db":"OMIM","id":"615122","name":"Lymphoproliferative syndrome 2"}
{"db":"OMIM","id":"300635","name":"Lymphoproliferative syndrome 2, X-linked"}
{"db":"OMIM","id":"120435","name":"Lynch syndrome I"}
{"db":"OMIM","id":"609310","name":"Lynch syndrome II"}
{"db":"OMIM","id":"222700","name":"Lysinuric protein intolerance"}
{"db":"OMIM","id":"278000","name":"Lysosomal acid lipase deficiency"}
{"db":"OMIM","id":"248000","name":"Macrocephaly"}
{"db":"OMIM","id":"613075","name":"Macrocephaly, alopecia, cutis laxa, and scoliosis"}
{"db":"OMIM","id":"614192","name":"Macrocephaly, macrosomia, facial dysmorphism syndrome"}
{"db":"OMIM","id":"605309","name":"Macrocephaly/autism syndrome"}
{"db":"OMIM","id":"600208","name":"Macrothrombocytopenia and progressive sensorineural deafness"}
{"db":"OMIM","id":"613112","name":"MACROTHROMBOCYTOPENIA, AUTOSOMAL DOMINANT, TUBB1-RELATED"}
{"db":"OMIM","id":"217800","name":"Macular corneal dystrophy Type I"}
{"db":"OMIM","id":"616118","name":"Macular degeneration, early-onset"}
{"db":"OMIM","id":"300834","name":"Macular degeneration, X-linked atrophic"}
{"db":"OMIM","id":"616170","name":"Macular dystrophy with central cone involvement"}
{"db":"OMIM","id":"608161","name":"Macular dystrophy, vitelliform, adult-onset"}
{"db":"OMIM","id":"609628","name":"Majeed syndrome"}
{"db":"OMIM","id":"140500","name":"Malformation of the heart"}
{"db":"OMIM","id":"145600","name":"Malignant hyperthermia"}
{"db":"OMIM","id":"605027","name":"Malignant lymphoma, non-Hodgkin"}
{"db":"OMIM","id":"176807","name":"Malignant tumor of prostate"}
{"db":"OMIM","id":"615381","name":"Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome"}
{"db":"OMIM","id":"248370","name":"Mandibuloacral dysostosis"}
{"db":"OMIM","id":"608612","name":"Mandibuloacral dysplasia with type B lipodystrophy"}
{"db":"OMIM","id":"248390","name":"Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive"}
{"db":"OMIM","id":"248600","name":"Maple syrup urine disease"}
{"db":"OMIM","id":"246900","name":"Maple syrup urine disease, type 3"}
{"db":"OMIM","id":"600920","name":"Marden Walker like syndrome"}
{"db":"OMIM","id":"248700","name":"Marden-Walker syndrome"}
{"db":"OMIM","id":"154700","name":"Marfan's syndrome"}
{"db":"OMIM","id":"146550","name":"Marie Unna hereditary hypotrichosis 1"}
{"db":"OMIM","id":"248800","name":"Marinesco-Sj gren syndrome"}
{"db":"OMIM","id":"248450","name":"Marles Greenberg Persaud syndrome"}
{"db":"OMIM","id":"154780","name":"Marshall syndrome"}
{"db":"OMIM","id":"602535","name":"Marshall-Smith syndrome"}
{"db":"OMIM","id":"212720","name":"Martsolf syndrome"}
{"db":"OMIM","id":"613791","name":"MASP2 deficiency"}
{"db":"OMIM","id":"604308","name":"MASS syndrome"}
{"db":"OMIM","id":"248900","name":"Mast syndrome"}
{"db":"OMIM","id":"125850","name":"Maturity-onset diabetes of the young, type 1"}
{"db":"OMIM","id":"125851","name":"Maturity-onset diabetes of the young, type 2"}
{"db":"OMIM","id":"613370","name":"Maturity-onset diabetes of the young, type 10"}
{"db":"OMIM","id":"613375","name":"Maturity-onset diabetes of the young, type 11"}
{"db":"OMIM","id":"600496","name":"Maturity-onset diabetes of the young, type 3"}
{"db":"OMIM","id":"606392","name":"Maturity-onset diabetes of the young, type 4"}
{"db":"OMIM","id":"610508","name":"Maturity-onset diabetes of the young, type 7"}
{"db":"OMIM","id":"609812","name":"Maturity-onset diabetes of the young, type 8"}
{"db":"OMIM","id":"612225","name":"Maturity-onset diabetes of the young, type 9"}
{"db":"OMIM","id":"155100","name":"May-Hegglin anomaly"}
{"db":"OMIM","id":"236700","name":"McKusick Kaufman syndrome"}
{"db":"OMIM","id":"300842","name":"McLeod neuroacanthocytosis syndrome"}
{"db":"OMIM","id":"608978","name":"Meacham syndrome"}
{"db":"OMIM","id":"616258","name":"Meckel syndrome 12"}
{"db":"OMIM","id":"249000","name":"Meckel syndrome type 1"}
{"db":"OMIM","id":"603194","name":"Meckel syndrome type 2"}
{"db":"OMIM","id":"607361","name":"Meckel syndrome type 3"}
{"db":"OMIM","id":"611134","name":"Meckel syndrome type 4"}
{"db":"OMIM","id":"611561","name":"Meckel syndrome type 5"}
{"db":"OMIM","id":"612284","name":"Meckel syndrome type 6"}
{"db":"OMIM","id":"267010","name":"Meckel syndrome type 7"}
{"db":"OMIM","id":"613885","name":"Meckel syndrome type 8"}
{"db":"OMIM","id":"614175","name":"Meckel syndrome, type 10"}
{"db":"OMIM","id":"615397","name":"Meckel syndrome, type 11"}
{"db":"OMIM","id":"614209","name":"Meckel syndrome, type 9"}
{"db":"OMIM","id":"614665","name":"Meconium ileus"}
{"db":"OMIM","id":"300260","name":"MECP2 duplication syndrome"}
{"db":"OMIM","id":"201450","name":"Medium-chain acyl-coenzyme A dehydrogenase deficiency"}
{"db":"OMIM","id":"174000","name":"Medullary cystic kidney disease 1"}
{"db":"OMIM","id":"603860","name":"Medullary cystic kidney disease 2"}
{"db":"OMIM","id":"155255","name":"Medulloblastoma"}
{"db":"OMIM","id":"122100","name":"Meesman's corneal dystrophy"}
{"db":"OMIM","id":"604004","name":"Megalencephalic leukoencephalopathy with subcortical cysts 1"}
{"db":"OMIM","id":"613925","name":"Megalencephalic leukoencephalopathy with subcortical cysts 2a"}
{"db":"OMIM","id":"613926","name":"Megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with or without mental retardation"}
{"db":"OMIM","id":"603387","name":"Megalencephaly polymicrogyria-polydactyly hydrocephalus syndrome"}
{"db":"OMIM","id":"615937","name":"Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2"}
{"db":"OMIM","id":"615938","name":"Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3"}
{"db":"OMIM","id":"613839","name":"Megaloblastic anemia due to dihydrofolate reductase deficiency"}
{"db":"OMIM","id":"261100","name":"Megaloblastic anemia due to inborn errors of metabolism"}
{"db":"OMIM","id":"249270","name":"Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness"}
{"db":"OMIM","id":"309300","name":"Megalocornea"}
{"db":"OMIM","id":"249300","name":"Megalocornea"}
{"db":"OMIM","id":"224690","name":"Meier-Gorlin syndrome 1"}
{"db":"OMIM","id":"613800","name":"Meier-Gorlin syndrome 2"}
{"db":"OMIM","id":"613803","name":"Meier-Gorlin syndrome 3"}
{"db":"OMIM","id":"613804","name":"Meier-Gorlin syndrome 4"}
{"db":"OMIM","id":"613805","name":"Meier-Gorlin syndrome 5"}
{"db":"OMIM","id":"155755","name":"Melanoma astrocytoma syndrome"}
{"db":"OMIM","id":"606719","name":"Melanoma-pancreatic cancer syndrome"}
{"db":"OMIM","id":"113650","name":"Melnick-Fraser syndrome"}
{"db":"OMIM","id":"309350","name":"Melnick-Needles syndrome"}
{"db":"OMIM","id":"309400","name":"Menkes kinky-hair syndrome"}
{"db":"OMIM","id":"300143","name":"Mental retardation 21, X-linked"}
{"db":"OMIM","id":"309541","name":"Mental retardation 3, X-linked"}
{"db":"OMIM","id":"300558","name":"Mental retardation 30, X-linked"}
{"db":"OMIM","id":"300436","name":"Mental retardation 46, X-linked"}
{"db":"OMIM","id":"300210","name":"Mental retardation 58, X-linked"}
{"db":"OMIM","id":"300387","name":"Mental retardation 63, X-linked"}
{"db":"OMIM","id":"309549","name":"Mental retardation 9, X-linked"}
{"db":"OMIM","id":"300749","name":"Mental retardation and microcephaly with pontine and cerebellar hypoplasia"}
{"db":"OMIM","id":"613670","name":"Mental retardation with language impairment and autistic features"}
{"db":"OMIM","id":"300123","name":"Mental retardation with panhypopituitarism, X-linked"}
{"db":"OMIM","id":"300354","name":"Mental retardation with short stature, hypogonadism and abnormal gait, X-linked"}
{"db":"OMIM","id":"304340","name":"Mental retardation X-linked syndromic 5"}
{"db":"OMIM","id":"300486","name":"Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance"}
{"db":"OMIM","id":"613671","name":"Mental retardation, anterior maxillary protrusion, and strabismus"}
{"db":"OMIM","id":"156200","name":"Mental retardation, autosomal dominant 1"}
{"db":"OMIM","id":"614256","name":"Mental retardation, autosomal dominant 10"}
{"db":"OMIM","id":"614257","name":"Mental retardation, autosomal dominant 11"}
{"db":"OMIM","id":"614562","name":"Mental retardation, autosomal dominant 12"}
{"db":"OMIM","id":"614563","name":"Mental retardation, autosomal dominant 13"}
{"db":"OMIM","id":"614607","name":"Mental retardation, autosomal dominant 14"}
{"db":"OMIM","id":"614608","name":"Mental retardation, autosomal dominant 15"}
{"db":"OMIM","id":"614609","name":"Mental retardation, autosomal dominant 16"}
{"db":"OMIM","id":"615009","name":"Mental retardation, autosomal dominant 17"}
{"db":"OMIM","id":"615074","name":"Mental retardation, autosomal dominant 18"}
{"db":"OMIM","id":"615075","name":"Mental retardation, autosomal dominant 19"}
{"db":"OMIM","id":"615502","name":"Mental retardation, autosomal dominant 21"}
{"db":"OMIM","id":"615761","name":"Mental retardation, autosomal dominant 23"}
{"db":"OMIM","id":"615828","name":"Mental retardation, autosomal dominant 24"}
{"db":"OMIM","id":"615873","name":"Mental retardation, autosomal dominant 28"}
{"db":"OMIM","id":"616078","name":"Mental retardation, autosomal dominant 29"}
{"db":"OMIM","id":"612580","name":"Mental retardation, autosomal dominant 3"}
{"db":"OMIM","id":"616083","name":"Mental retardation, autosomal dominant 30"}
{"db":"OMIM","id":"616158","name":"Mental retardation, autosomal dominant 31"}
{"db":"OMIM","id":"612581","name":"Mental retardation, autosomal dominant 4"}
{"db":"OMIM","id":"612621","name":"Mental retardation, autosomal dominant 5"}
{"db":"OMIM","id":"613970","name":"Mental retardation, autosomal dominant 6"}
{"db":"OMIM","id":"614104","name":"Mental retardation, autosomal dominant 7"}
{"db":"OMIM","id":"614254","name":"Mental retardation, autosomal dominant 8"}
{"db":"OMIM","id":"614255","name":"Mental retardation, autosomal dominant 9"}
{"db":"OMIM","id":"249500","name":"Mental retardation, autosomal recessive 1"}
{"db":"OMIM","id":"611090","name":"Mental retardation, autosomal recessive 12"}
{"db":"OMIM","id":"613192","name":"Mental retardation, autosomal recessive 13"}
{"db":"OMIM","id":"614020","name":"Mental retardation, autosomal recessive 14"}
{"db":"OMIM","id":"614202","name":"Mental retardation, autosomal recessive 15"}
{"db":"OMIM","id":"614249","name":"Mental retardation, autosomal recessive 18"}
{"db":"OMIM","id":"607417","name":"Mental retardation, autosomal recessive 2"}
{"db":"OMIM","id":"614340","name":"Mental retardation, autosomal recessive 27"}
{"db":"OMIM","id":"608443","name":"Mental retardation, autosomal recessive 3"}
{"db":"OMIM","id":"614499","name":"Mental retardation, autosomal recessive 34"}
{"db":"OMIM","id":"615286","name":"Mental retardation, autosomal recessive 36"}
{"db":"OMIM","id":"615493","name":"Mental retardation, autosomal recessive 37"}
{"db":"OMIM","id":"615516","name":"Mental retardation, autosomal recessive 38"}
{"db":"OMIM","id":"615541","name":"Mental retardation, autosomal recessive 39"}
{"db":"OMIM","id":"615599","name":"Mental retardation, autosomal recessive 40"}
{"db":"OMIM","id":"615637","name":"Mental retardation, autosomal recessive 41"}
{"db":"OMIM","id":"615802","name":"Mental retardation, autosomal recessive 42"}
{"db":"OMIM","id":"615817","name":"Mental retardation, autosomal recessive 43"}
{"db":"OMIM","id":"615942","name":"Mental retardation, autosomal recessive 44"}
{"db":"OMIM","id":"615979","name":"Mental retardation, autosomal recessive 45"}
{"db":"OMIM","id":"616116","name":"Mental retardation, autosomal recessive 46"}
{"db":"OMIM","id":"616193","name":"Mental retardation, autosomal recessive 47"}
{"db":"OMIM","id":"611091","name":"Mental retardation, autosomal recessive 5"}
{"db":"OMIM","id":"611092","name":"Mental retardation, autosomal recessive 6"}
{"db":"OMIM","id":"611093","name":"Mental retardation, autosomal recessive 7"}
{"db":"OMIM","id":"136630","name":"Mental retardation, fra12a type"}
{"db":"OMIM","id":"613443","name":"Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations"}
{"db":"OMIM","id":"300676","name":"Mental retardation, syndromic 14, X-linked"}
{"db":"OMIM","id":"300534","name":"Mental retardation, syndromic, Claes-Jensen type, X-linked"}
{"db":"OMIM","id":"300419","name":"Mental retardation, with or without seizures, ARX-related, X-linked"}
{"db":"OMIM","id":"300923","name":"Mental retardation, X-linked 100"}
{"db":"OMIM","id":"300928","name":"Mental retardation, X-linked 101"}
{"db":"OMIM","id":"300844","name":"Mental retardation, X-linked 19"}
{"db":"OMIM","id":"300498","name":"Mental retardation, X-linked 45"}
{"db":"OMIM","id":"300271","name":"Mental retardation, X-linked 72"}
{"db":"OMIM","id":"300659","name":"Mental retardation, X-linked 93"}
{"db":"OMIM","id":"300802","name":"Mental retardation, X-linked 96"}
{"db":"OMIM","id":"300912","name":"Mental retardation, X-linked 98"}
{"db":"OMIM","id":"300919","name":"Mental retardation, X-linked 99"}
{"db":"OMIM","id":"309530","name":"Mental retardation, X-linked, nonspecific"}
{"db":"OMIM","id":"300220","name":"Mental retardation, X-linked, syndromic 10"}
{"db":"OMIM","id":"300055","name":"Mental retardation, X-linked, syndromic 13"}
{"db":"OMIM","id":"300886","name":"Mental retardation, X-linked, syndromic 32"}
{"db":"OMIM","id":"300423","name":"Mental retardation, X-linked, syndromic, Hedera type"}
{"db":"OMIM","id":"300799","name":"Mental retardation, X-linked, syndromic, raymond type"}
{"db":"OMIM","id":"300706","name":"Mental retardation, X-linked, syndromic, turner type"}
{"db":"OMIM","id":"300699","name":"Mental retardation, X-linked, syndromic, wu type"}
{"db":"OMIM","id":"105120","name":"Meretoja syndrome"}
{"db":"OMIM","id":"607855","name":"Merosin deficient congenital muscular dystrophy"}
{"db":"OMIM","id":"309630","name":"Metacarpal 4-5 fusion"}
{"db":"OMIM","id":"156250","name":"Metachondromatosis"}
{"db":"OMIM","id":"250100","name":"Metachromatic leukodystrophy"}
{"db":"OMIM","id":"156400","name":"Metaphyseal chondrodysplasia, Jansen type"}
{"db":"OMIM","id":"250250","name":"Metaphyseal chondrodysplasia, McKusick type"}
{"db":"OMIM","id":"156500","name":"Metaphyseal chondrodysplasia, Schmid type"}
{"db":"OMIM","id":"250400","name":"Metaphyseal chondrodysplasia, Spahr type"}
{"db":"OMIM","id":"156510","name":"Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly"}
{"db":"OMIM","id":"250460","name":"Metaphyseal dysplasia without hypotrichosis"}
{"db":"OMIM","id":"156530","name":"Metatrophic dysplasia"}
{"db":"OMIM","id":"250790","name":"Methemoglobinemia type 4"}
{"db":"OMIM","id":"250940","name":"METHYLCOBALAMIN DEFICIENCY, cblG TYPE"}
{"db":"OMIM","id":"277400","name":"Methylmalonic acidemia with homocystinuria"}
{"db":"OMIM","id":"277410","name":"Methylmalonic acidemia with homocystinuria cblD"}
{"db":"OMIM","id":"277380","name":"METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE"}
{"db":"OMIM","id":"614857","name":"METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE"}
{"db":"OMIM","id":"251100","name":"Methylmalonic aciduria cblA type"}
{"db":"OMIM","id":"251110","name":"Methylmalonic aciduria cblB type"}
{"db":"OMIM","id":"251000","name":"Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency"}
{"db":"OMIM","id":"613646","name":"Methylmalonic aciduria due to transcobalamin receptor defect"}
{"db":"OMIM","id":"251120","name":"Methylmalonyl-CoA epimerase deficiency"}
{"db":"OMIM","id":"610377","name":"Mevalonic aciduria"}
{"db":"OMIM","id":"257920","name":"Michels syndrome"}
{"db":"OMIM","id":"210720","name":"Microcephalic osteodysplastic primordial dwarfism type 2"}
{"db":"OMIM","id":"615095","name":"Microcephaly 10, primary, autosomal recessive"}
{"db":"OMIM","id":"615414","name":"Microcephaly 11, primary, autosomal recessive"}
{"db":"OMIM","id":"616080","name":"Microcephaly 12, primary, autosomal recessive"}
{"db":"OMIM","id":"616051","name":"Microcephaly 13, primary, autosomal recessive"}
{"db":"OMIM","id":"614852","name":"Microcephaly 9, primary, autosomal recessive"}
{"db":"OMIM","id":"616171","name":"Microcephaly and chorioretinopathy, autosomal recessive, 2"}
{"db":"OMIM","id":"251270","name":"Microcephaly with chorioretinopathy, autosomal recessive"}
{"db":"OMIM","id":"251255","name":"Microcephaly with mental retardation and digital anomalies"}
{"db":"OMIM","id":"152950","name":"Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation"}
{"db":"OMIM","id":"614231","name":"Microcephaly, epilepsy, and diabetes syndrome"}
{"db":"OMIM","id":"251300","name":"Microcephaly, hiatal hernia and nephrotic syndrome"}
{"db":"OMIM","id":"251260","name":"Microcephaly, normal intelligence and immunodeficiency"}
{"db":"OMIM","id":"613668","name":"Microcephaly, postnatal progressive, with seizures and brain atrophy"}
{"db":"OMIM","id":"615760","name":"Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy"}
{"db":"OMIM","id":"616033","name":"Microcephaly, short stature, and impaired glucose metabolism"}
{"db":"OMIM","id":"614261","name":"Microcephaly-capillary malformation syndrome"}
{"db":"OMIM","id":"615458","name":"Microcornea, myopic chorioretinal atrophy, and telecanthus"}
{"db":"OMIM","id":"206200","name":"Microcytic anemia"}
{"db":"OMIM","id":"206900","name":"Microphthalmia syndromic 3"}
{"db":"OMIM","id":"610125","name":"Microphthalmia syndromic 5"}
{"db":"OMIM","id":"607932","name":"Microphthalmia syndromic 6"}
{"db":"OMIM","id":"601186","name":"Microphthalmia syndromic 9"}
{"db":"OMIM","id":"610093","name":"Microphthalmia, isolated 2"}
{"db":"OMIM","id":"611038","name":"Microphthalmia, isolated 3"}
{"db":"OMIM","id":"613094","name":"Microphthalmia, isolated 4"}
{"db":"OMIM","id":"611040","name":"Microphthalmia, isolated 5"}
{"db":"OMIM","id":"613517","name":"Microphthalmia, isolated 6"}
{"db":"OMIM","id":"613704","name":"Microphthalmia, isolated 7"}
{"db":"OMIM","id":"615113","name":"Microphthalmia, isolated 8"}
{"db":"OMIM","id":"610092","name":"Microphthalmia, isolated, with coloboma 3"}
{"db":"OMIM","id":"611638","name":"Microphthalmia, isolated, with coloboma 5"}
{"db":"OMIM","id":"613703","name":"Microphthalmia, isolated, with coloboma 6"}
{"db":"OMIM","id":"614497","name":"Microphthalmia, isolated, with coloboma 7"}
{"db":"OMIM","id":"615145","name":"Microphthalmia, isolated, with coloboma 9"}
{"db":"OMIM","id":"614402","name":"Microphthalmia, syndromic 11"}
{"db":"OMIM","id":"615524","name":"Microphthalmia, syndromic 12"}
{"db":"OMIM","id":"300915","name":"Microphthalmia, syndromic 13"}
{"db":"OMIM","id":"309801","name":"Microphthalmia, syndromic, 7"}
{"db":"OMIM","id":"251750","name":"Microspherophakia"}
{"db":"OMIM","id":"612290","name":"Microtia, hearing impairment, and cleft palate"}
{"db":"OMIM","id":"263750","name":"Miller syndrome"}
{"db":"OMIM","id":"255320","name":"Minicore myopathy with external ophthalmoplegia"}
{"db":"OMIM","id":"614508","name":"Mirror movements 2"}
{"db":"OMIM","id":"157600","name":"Mirror movements, congenital"}
{"db":"OMIM","id":"615710","name":"Mitchell-Riley syndrome"}
{"db":"OMIM","id":"605911","name":"mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency"}
{"db":"OMIM","id":"252010","name":"Mitochondrial complex I deficiency"}
{"db":"OMIM","id":"252011","name":"Mitochondrial complex II deficiency"}
{"db":"OMIM","id":"124000","name":"Mitochondrial complex III deficiency"}
{"db":"OMIM","id":"615157","name":"Mitochondrial complex III deficiency, nuclear type 2"}
{"db":"OMIM","id":"615159","name":"Mitochondrial complex III deficiency, nuclear type 4"}
{"db":"OMIM","id":"615160","name":"Mitochondrial complex III deficiency, nuclear type 5"}
{"db":"OMIM","id":"615453","name":"MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6"}
{"db":"OMIM","id":"615824","name":"MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7"}
{"db":"OMIM","id":"615838","name":"MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8"}
{"db":"OMIM","id":"616111","name":"MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 9"}
{"db":"OMIM","id":"615228","name":"MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4"}
{"db":"OMIM","id":"615084","name":"Mitochondrial DNA depletion syndrome 11"}
{"db":"OMIM","id":"615418","name":"Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)"}
{"db":"OMIM","id":"615471","name":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)"}
{"db":"OMIM","id":"609560","name":"Mitochondrial DNA depletion syndrome 2"}
{"db":"OMIM","id":"613662","name":"Mitochondrial DNA depletion syndrome 4B, MNGIE type"}
{"db":"OMIM","id":"612073","name":"Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)"}
{"db":"OMIM","id":"271245","name":"Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)"}
{"db":"OMIM","id":"245400","name":"Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)"}
{"db":"OMIM","id":"612075","name":"Mitochondrial DNA depletion syndrome, encephalomyopathic form, with renal tubulopathy"}
{"db":"OMIM","id":"251880","name":"Mitochondrial DNA-depletion syndrome 3, hepatocerebral"}
{"db":"OMIM","id":"251900","name":"Mitochondrial myopathy"}
{"db":"OMIM","id":"500009","name":"Mitochondrial myopathy, infantile, due to reversible cytochrome c oxidase deficiency"}
{"db":"OMIM","id":"610773","name":"Mitochondrial phosphate carrier deficiency"}
{"db":"OMIM","id":"614741","name":"Mitochondrial pyruvate carrier deficiency"}
{"db":"OMIM","id":"609015","name":"Mitochondrial trifunctional protein deficiency"}
{"db":"OMIM","id":"254130","name":"Miyoshi muscular dystrophy 1"}
{"db":"OMIM","id":"613319","name":"Miyoshi muscular dystrophy 3"}
{"db":"OMIM","id":"304700","name":"Mohr-Tranebjaerg syndrome"}
{"db":"OMIM","id":"252150","name":"Molybdenum cofactor deficiency, complementation group A"}
{"db":"OMIM","id":"252160","name":"Molybdenum cofactor deficiency, complementation group B"}
{"db":"OMIM","id":"300615","name":"Monoamine oxidase A deficiency"}
{"db":"OMIM","id":"614894","name":"Monocyte and dendritic cell deficiency, autosomal recessive"}
{"db":"OMIM","id":"613353","name":"Mononeuropathy of the median nerve, mild"}
{"db":"OMIM","id":"615703","name":"Morbid obesity and spermatogenic failure"}
{"db":"OMIM","id":"610156","name":"MORM syndrome"}
{"db":"OMIM","id":"257300","name":"Mosaic variegated aneuploidy syndrome"}
{"db":"OMIM","id":"614114","name":"Mosaic variegated aneuploidy syndrome 2"}
{"db":"OMIM","id":"235730","name":"Mowat-Wilson syndrome"}
{"db":"OMIM","id":"614042","name":"Moyamoya disease 5"}
{"db":"OMIM","id":"615750","name":"Moyamoya disease 6 with achalasia"}
{"db":"OMIM","id":"252605","name":"Mucolipidosis III Gamma"}
{"db":"OMIM","id":"253200","name":"Mucopolysaccharidosis type VI"}
{"db":"OMIM","id":"253220","name":"Mucopolysaccharidosis type VII"}
{"db":"OMIM","id":"607015","name":"Mucopolysaccharidosis, MPS-I-H/S"}
{"db":"OMIM","id":"607016","name":"Mucopolysaccharidosis, MPS-I-S"}
{"db":"OMIM","id":"309900","name":"Mucopolysaccharidosis, MPS-II"}
{"db":"OMIM","id":"252900","name":"Mucopolysaccharidosis, MPS-III-A"}
{"db":"OMIM","id":"252920","name":"Mucopolysaccharidosis, MPS-III-B"}
{"db":"OMIM","id":"252930","name":"Mucopolysaccharidosis, MPS-III-C"}
{"db":"OMIM","id":"252940","name":"Mucopolysaccharidosis, MPS-III-D"}
{"db":"OMIM","id":"253000","name":"Mucopolysaccharidosis, MPS-IV-A"}
{"db":"OMIM","id":"253010","name":"Mucopolysaccharidosis, MPS-IV-B"}
{"db":"OMIM","id":"602849","name":"Muenke syndrome"}
{"db":"OMIM","id":"158320","name":"Muir-Torr syndrome"}
{"db":"OMIM","id":"253250","name":"Mulibrey nanism syndrome"}
{"db":"OMIM","id":"158330","name":"Mullerian aplasia and hyperandrogenism"}
{"db":"OMIM","id":"166300","name":"Multicentric osteolysis nephropathy"}
{"db":"OMIM","id":"259600","name":"Multicentric osteolysis, nodulosis and arthropathy"}
{"db":"OMIM","id":"614080","name":"Multiple congenital anomalies-hypotonia-seizures syndrome 1"}
{"db":"OMIM","id":"300868","name":"Multiple congenital anomalies-hypotonia-seizures syndrome 2"}
{"db":"OMIM","id":"615398","name":"Multiple congenital anomalies-hypotonia-seizures syndrome 3"}
{"db":"OMIM","id":"133700","name":"Multiple congenital exostosis"}
{"db":"OMIM","id":"600195","name":"Multiple Cutaneous and Mucosal Venous Malformations"}
{"db":"OMIM","id":"131100","name":"Multiple endocrine neoplasia, type 1"}
{"db":"OMIM","id":"171400","name":"Multiple endocrine neoplasia, type 2a"}
{"db":"OMIM","id":"162300","name":"Multiple endocrine neoplasia, type 2b"}
{"db":"OMIM","id":"610755","name":"Multiple endocrine neoplasia, type 4"}
{"db":"OMIM","id":"132400","name":"Multiple epiphyseal dysplasia 1"}
{"db":"OMIM","id":"600204","name":"Multiple epiphyseal dysplasia 2"}
{"db":"OMIM","id":"600969","name":"Multiple epiphyseal dysplasia 3"}
{"db":"OMIM","id":"226900","name":"Multiple epiphyseal dysplasia 4"}
{"db":"OMIM","id":"607078","name":"Multiple epiphyseal dysplasia 5"}
{"db":"OMIM","id":"614135","name":"Multiple epiphyseal dysplasia 6"}
{"db":"OMIM","id":"133701","name":"Multiple exostoses type 2"}
{"db":"OMIM","id":"615554","name":"Multiple fibroadenomas of the breast"}
{"db":"OMIM","id":"135150","name":"Multiple fibrofolliculomas"}
{"db":"OMIM","id":"243150","name":"Multiple gastrointestinal atresias"}
{"db":"OMIM","id":"245600","name":"Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects"}
{"db":"OMIM","id":"605711","name":"Multiple mitochondrial dysfunctions syndrome 1"}
{"db":"OMIM","id":"614299","name":"Multiple mitochondrial dysfunctions syndrome 2"}
{"db":"OMIM","id":"615330","name":"Multiple mitochondrial dysfunctions syndrome 3"}
{"db":"OMIM","id":"265000","name":"Multiple pterygium syndrome Escobar type"}
{"db":"OMIM","id":"272200","name":"Multiple sulfatase deficiency"}
{"db":"OMIM","id":"610017","name":"Multiple synostoses syndrome 2"}
{"db":"OMIM","id":"612961","name":"Multiple synostoses syndrome 3"}
{"db":"OMIM","id":"613834","name":"Multisystemic smooth muscle dysfunction syndrome"}
{"db":"OMIM","id":"615511","name":"Muscle AMP deaminase deficiency"}
{"db":"OMIM","id":"614160","name":"Muscle hypertrophy"}
{"db":"OMIM","id":"613204","name":"Muscular dystrophy, congenital, due to integrin alpha-7 deficiency"}
{"db":"OMIM","id":"602541","name":"Muscular dystrophy, congenital, megaconial type"}
{"db":"OMIM","id":"615325","name":"Muscular dystrophy, limb-girdle, type 2r"}
{"db":"OMIM","id":"616094","name":"MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 12"}
{"db":"OMIM","id":"124500","name":"Mutilating keratoderma"}
{"db":"OMIM","id":"605809","name":"Myasthenia, familial infantile, 1"}
{"db":"OMIM","id":"254300","name":"Myasthenia, limb-girdle, familial"}
{"db":"OMIM","id":"608931","name":"Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency"}
{"db":"OMIM","id":"608930","name":"Myasthenic syndrome, congenital, fast-channel"}
{"db":"OMIM","id":"615120","name":"Myasthenic syndrome, congenital, with pre- and postsynaptic defects"}
{"db":"OMIM","id":"614750","name":"Myasthenic syndrome, congenital, with tubular aggregates 2"}
{"db":"OMIM","id":"616228","name":"Myasthenic syndrome, congenital, with tubular aggregates 3"}
{"db":"OMIM","id":"616227","name":"Myasthenic syndrome, congenital, without tubular aggregates"}
{"db":"OMIM","id":"616040","name":"Myasthenic syndrome, presynaptic, congenital, with or without motor neuropathy"}
{"db":"OMIM","id":"601462","name":"Myasthenic syndrome, slow-channel congenital"}
{"db":"OMIM","id":"613796","name":"Mycobacterial and viral infections, susceptibility to, autosomal recessive"}
{"db":"OMIM","id":"612260","name":"Myd88 deficiency"}
{"db":"OMIM","id":"254600","name":"Myeloperoxidase deficiency"}
{"db":"OMIM","id":"608456","name":"MYH-associated polyposis"}
{"db":"OMIM","id":"139210","name":"Myhre syndrome"}
{"db":"OMIM","id":"159900","name":"Myoclonic dystonia"}
{"db":"OMIM","id":"605021","name":"Myoclonic epilepsy, familial infantile"}
{"db":"OMIM","id":"545000","name":"Myoclonus with epilepsy with ragged red fibers"}
{"db":"OMIM","id":"614937","name":"Myoclonus, familial cortical"}
{"db":"OMIM","id":"601419","name":"Myofibrillar myopathy 1"}
{"db":"OMIM","id":"612954","name":"Myofibrillar myopathy, BAG3-related"}
{"db":"OMIM","id":"609524","name":"Myofibrillar myopathy, filamin C-related"}
{"db":"OMIM","id":"609452","name":"Myofibrillar myopathy, ZASP-related"}
{"db":"OMIM","id":"268200","name":"Myoglobinuria, acute recurrent, autosomal recessive"}
{"db":"OMIM","id":"550500","name":"Myoglobinuria, recurrent"}
{"db":"OMIM","id":"603041","name":"Myoneural gastrointestinal encephalopathy syndrome"}
{"db":"OMIM","id":"615673","name":"Myopathy with extrapyramidal signs"}
{"db":"OMIM","id":"255125","name":"Myopathy with lactic acidosis, hereditary"}
{"db":"OMIM","id":"300696","name":"Myopathy with postural muscle atrophy, X-linked"}
{"db":"OMIM","id":"160565","name":"Myopathy with tubular aggregates"}
{"db":"OMIM","id":"614399","name":"Myopathy, areflexia, respiratory distress, and dysphagia, early-onset"}
{"db":"OMIM","id":"160150","name":"Myopathy, centronuclear, 1"}
{"db":"OMIM","id":"614408","name":"Myopathy, centronuclear, 3"}
{"db":"OMIM","id":"614807","name":"Myopathy, centronuclear, 4"}
{"db":"OMIM","id":"615959","name":"Myopathy, centronuclear, 5"}
{"db":"OMIM","id":"612540","name":"Myopathy, congenital, compton-north"}
{"db":"OMIM","id":"160500","name":"Myopathy, distal, 1"}
{"db":"OMIM","id":"606070","name":"Myopathy, distal, 2"}
{"db":"OMIM","id":"614065","name":"Myopathy, distal, 4"}
{"db":"OMIM","id":"606768","name":"Myopathy, distal, with anterior tibial onset"}
{"db":"OMIM","id":"611705","name":"Myopathy, early-onset, with fatal cardiomyopathy"}
{"db":"OMIM","id":"616209","name":"Myopathy, isolated mitochondrial, autosomal dominant"}
{"db":"OMIM","id":"600462","name":"Myopathy, lactic acidosis, and sideroblastic anemia 1"}
{"db":"OMIM","id":"613561","name":"Myopathy, lactic acidosis, and sideroblastic anemia 2"}
{"db":"OMIM","id":"613076","name":"Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay"}
{"db":"OMIM","id":"608358","name":"Myopathy, myosin storage"}
{"db":"OMIM","id":"300718","name":"Myopathy, reducing body, X-linked, childhood-onset"}
{"db":"OMIM","id":"300717","name":"Myopathy, reducing body, X-linked, early-onset, severe"}
{"db":"OMIM","id":"615883","name":"Myopathy, tubular aggregate, 2"}
{"db":"OMIM","id":"616231","name":"Myopathy, vacuolar, with casq1 aggregates"}
{"db":"OMIM","id":"614167","name":"Myopia 21, autosomal dominant"}
{"db":"OMIM","id":"615420","name":"Myopia 22, autosomal dominant"}
{"db":"OMIM","id":"615431","name":"Myopia 23, autosomal recessive"}
{"db":"OMIM","id":"615946","name":"Myopia 24, autosomal dominant"}
{"db":"OMIM","id":"608908","name":"Myopia 6"}
{"db":"OMIM","id":"614292","name":"Myopia, high, with cataract and vitreoretinal degeneration"}
{"db":"OMIM","id":"255600","name":"Myosclerosis, autosomal recessive"}
{"db":"OMIM","id":"609200","name":"Myotilinopathy"}
{"db":"OMIM","id":"156000","name":"M ni re's disease"}
{"db":"OMIM","id":"614063","name":"N-acetylaspartate deficiency"}
{"db":"OMIM","id":"300855","name":"N-terminal acetyltransferase deficiency"}
{"db":"OMIM","id":"161000","name":"Naegeli-Franceschetti-Jadassohn syndrome"}
{"db":"OMIM","id":"154400","name":"Nager syndrome"}
{"db":"OMIM","id":"614157","name":"Nail disorder, nonsyndromic congenital, 10"}
{"db":"OMIM","id":"607523","name":"Nail disorder, nonsyndromic congenital, 8"}
{"db":"OMIM","id":"161200","name":"Nail-patella syndrome"}
{"db":"OMIM","id":"256040","name":"Nakajo syndrome"}
{"db":"OMIM","id":"302350","name":"Nance-Horan syndrome"}
{"db":"OMIM","id":"609549","name":"Nanophthalmos 2"}
{"db":"OMIM","id":"615972","name":"Nanophthalmos 4"}
{"db":"OMIM","id":"161400","name":"Narcolepsy"}
{"db":"OMIM","id":"614250","name":"Narcolepsy 7"}
{"db":"OMIM","id":"255995","name":"Native American myopathy"}
{"db":"OMIM","id":"609981","name":"Natural killer cell deficiency, familial isolated"}
{"db":"OMIM","id":"256810","name":"Navajo neurohepatopathy"}
{"db":"OMIM","id":"601214","name":"Naxos disease"}
{"db":"OMIM","id":"609284","name":"Nemaline myopathy 1"}
{"db":"OMIM","id":"616165","name":"Nemaline myopathy 10"}
{"db":"OMIM","id":"256030","name":"Nemaline myopathy 2"}
{"db":"OMIM","id":"161800","name":"Nemaline myopathy 3"}
{"db":"OMIM","id":"609285","name":"Nemaline myopathy 4"}
{"db":"OMIM","id":"605355","name":"Nemaline myopathy 5"}
{"db":"OMIM","id":"609273","name":"Nemaline myopathy 6"}
{"db":"OMIM","id":"610687","name":"Nemaline myopathy 7"}
{"db":"OMIM","id":"615731","name":"Nemaline myopathy 9"}
{"db":"OMIM","id":"202370","name":"Neonatal adrenoleucodystrophy"}
{"db":"OMIM","id":"605814","name":"Neonatal intrahepatic cholestasis caused by citrin deficiency"}
{"db":"OMIM","id":"167000","name":"Neoplasm of ovary"}
{"db":"OMIM","id":"304800","name":"Nephrogenic diabetes insipidus, X-linked"}
{"db":"OMIM","id":"300539","name":"Nephrogenic syndrome of inappropriate antidiuresis"}
{"db":"OMIM","id":"612286","name":"Nephrolithiasis/osteoporosis, hypophosphatemic, 1"}
{"db":"OMIM","id":"612287","name":"Nephrolithiasis/osteoporosis, hypophosphatemic, 2"}
{"db":"OMIM","id":"256100","name":"Nephronophthisis 1"}
{"db":"OMIM","id":"613550","name":"Nephronophthisis 11"}
{"db":"OMIM","id":"613820","name":"Nephronophthisis 12"}
{"db":"OMIM","id":"614377","name":"Nephronophthisis 13"}
{"db":"OMIM","id":"614844","name":"Nephronophthisis 14"}
{"db":"OMIM","id":"614845","name":"Nephronophthisis 15"}
{"db":"OMIM","id":"615382","name":"Nephronophthisis 16"}
{"db":"OMIM","id":"615862","name":"Nephronophthisis 18"}
{"db":"OMIM","id":"616217","name":"Nephronophthisis 19"}
{"db":"OMIM","id":"606966","name":"Nephronophthisis 4"}
{"db":"OMIM","id":"611498","name":"Nephronophthisis 7"}
{"db":"OMIM","id":"613824","name":"Nephronophthisis 9"}
{"db":"OMIM","id":"613159","name":"Nephronophthisis-like nephropathy 1"}
{"db":"OMIM","id":"609057","name":"Nephropathy with pretibial epidermolysis bullosa and deafness"}
{"db":"OMIM","id":"600995","name":"Nephrotic syndrome, idiopathic, steroid-resistant"}
{"db":"OMIM","id":"615861","name":"Nephrotic syndrome, type 10"}
{"db":"OMIM","id":"610725","name":"Nephrotic syndrome, type 3"}
{"db":"OMIM","id":"614199","name":"Nephrotic syndrome, type 5, with or without ocular abnormalities"}
{"db":"OMIM","id":"614196","name":"Nephrotic syndrome, type 6"}
{"db":"OMIM","id":"615008","name":"Nephrotic syndrome, type 7"}
{"db":"OMIM","id":"615244","name":"Nephrotic syndrome, type 8"}
{"db":"OMIM","id":"615573","name":"Nephrotic syndrome, type 9"}
{"db":"OMIM","id":"614008","name":"Nestor-Guillermo progeria syndrome"}
{"db":"OMIM","id":"256500","name":"Netherton syndrome"}
{"db":"OMIM","id":"256520","name":"Neu-Laxova syndrome 1"}
{"db":"OMIM","id":"616038","name":"Neu-laxova syndrome 2"}
{"db":"OMIM","id":"610217","name":"Neurodegeneration with brain iron accumulation 2b"}
{"db":"OMIM","id":"614298","name":"Neurodegeneration with brain iron accumulation 4"}
{"db":"OMIM","id":"300894","name":"Neurodegeneration with brain iron accumulation 5"}
{"db":"OMIM","id":"615643","name":"Neurodegeneration with brain iron accumulation 6"}
{"db":"OMIM","id":"615491","name":"Neurodegeneration with optic atrophy, childhood-onset"}
{"db":"OMIM","id":"606159","name":"Neuroferritinopathy"}
{"db":"OMIM","id":"162210","name":"Neurofibromatosis, familial spinal"}
{"db":"OMIM","id":"162200","name":"Neurofibromatosis, type 1"}
{"db":"OMIM","id":"101000","name":"Neurofibromatosis, type 2"}
{"db":"OMIM","id":"601321","name":"Neurofibromatosis-Noonan syndrome"}
{"db":"OMIM","id":"125700","name":"Neurohypophyseal diabetes insipidus"}
{"db":"OMIM","id":"616263","name":"NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET"}
{"db":"OMIM","id":"551500","name":"Neuropathy ataxia retinitis pigmentosa syndrome"}
{"db":"OMIM","id":"162400","name":"Neuropathy hereditary sensory and autonomic type 1"}
{"db":"OMIM","id":"604484","name":"Neuropathy, hereditary motor and sensory, Okinawa type"}
{"db":"OMIM","id":"614653","name":"NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI"}
{"db":"OMIM","id":"615548","name":"NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VII"}
{"db":"OMIM","id":"613708","name":"NEUROPATHY, HEREDITARY SENSORY, TYPE ID"}
{"db":"OMIM","id":"614116","name":"NEUROPATHY, HEREDITARY SENSORY, TYPE IE"}
{"db":"OMIM","id":"615632","name":"NEUROPATHY, HEREDITARY SENSORY, TYPE IF"}
{"db":"OMIM","id":"614213","name":"NEUROPATHY, HEREDITARY SENSORY, TYPE IIC"}
{"db":"OMIM","id":"256840","name":"Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive"}
{"db":"OMIM","id":"234500","name":"Neutral 1 amino acid transport defect"}
{"db":"OMIM","id":"610717","name":"Neutral lipid storage disease with myopathy"}
{"db":"OMIM","id":"607847","name":"Neutropenia, nonimmune chronic idiopathic, of adults"}
{"db":"OMIM","id":"608203","name":"Neutrophil immunodeficiency syndrome"}
{"db":"OMIM","id":"607476","name":"Newfoundland rod-cone dystrophy"}
{"db":"OMIM","id":"601358","name":"Nicolaides-Baraitser syndrome"}
{"db":"OMIM","id":"257220","name":"Niemann-Pick disease type C1"}
{"db":"OMIM","id":"607625","name":"Niemann-Pick disease type C2"}
{"db":"OMIM","id":"257200","name":"Niemann-Pick disease, type A"}
{"db":"OMIM","id":"607616","name":"Niemann-Pick disease, type B"}
{"db":"OMIM","id":"613078","name":"Nijmegen breakage syndrome-like disorder"}
{"db":"OMIM","id":"605899","name":"Non-ketotic hyperglycinemia"}
{"db":"OMIM","id":"605820","name":"Nonaka myopathy"}
{"db":"OMIM","id":"163950","name":"Noonan syndrome 1"}
{"db":"OMIM","id":"609942","name":"Noonan syndrome 3"}
{"db":"OMIM","id":"610733","name":"Noonan syndrome 4"}
{"db":"OMIM","id":"611553","name":"Noonan syndrome 5"}
{"db":"OMIM","id":"613224","name":"Noonan syndrome 6"}
{"db":"OMIM","id":"613706","name":"Noonan syndrome 7"}
{"db":"OMIM","id":"615355","name":"Noonan syndrome 8"}
{"db":"OMIM","id":"613563","name":"Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia"}
{"db":"OMIM","id":"607721","name":"Noonan-like syndrome with loose anagen hair"}
{"db":"OMIM","id":"604901","name":"North american indian childhood cirrhosis"}
{"db":"OMIM","id":"245900","name":"Norum disease"}
{"db":"OMIM","id":"300831","name":"NSDHL-Related Disorders"}
{"db":"OMIM","id":"604273","name":"Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1"}
{"db":"OMIM","id":"614052","name":"Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2"}
{"db":"OMIM","id":"614053","name":"Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 3"}
{"db":"OMIM","id":"300814","name":"Nystagmus 6, congenital, X-linked"}
{"db":"OMIM","id":"601665","name":"Obesity"}
{"db":"OMIM","id":"613886","name":"Obesity, hyperphagia, and developmental delay"}
{"db":"OMIM","id":"614962","name":"Obesity, severe, due to leptin deficiency"}
{"db":"OMIM","id":"613587","name":"Occult macular dystrophy"}
{"db":"OMIM","id":"236730","name":"Ochoa syndrome"}
{"db":"OMIM","id":"300500","name":"Ocular albinism, type I"}
{"db":"OMIM","id":"300600","name":"Ocular albinism, type II"}
{"db":"OMIM","id":"216820","name":"Ocular coloboma, autosomal recessive"}
{"db":"OMIM","id":"612109","name":"Oculoauricular syndrome"}
{"db":"OMIM","id":"606952","name":"Oculocutaneous albinism type 1B"}
{"db":"OMIM","id":"203290","name":"Oculocutaneous albinism type 3"}
{"db":"OMIM","id":"606574","name":"Oculocutaneous albinism type 4"}
{"db":"OMIM","id":"615179","name":"Oculocutaneous albinism type 7"}
{"db":"OMIM","id":"164200","name":"Oculodentodigital dysplasia"}
{"db":"OMIM","id":"257850","name":"Oculodentodigital dysplasia, autosomal recessive"}
{"db":"OMIM","id":"300166","name":"Oculofaciocardiodental syndrome"}
{"db":"OMIM","id":"600251","name":"Oculomaxillofacial dysostosis"}
{"db":"OMIM","id":"108145","name":"Oculomelic amyoplasia"}
{"db":"OMIM","id":"164300","name":"Oculopharyngeal muscular dystrophy"}
{"db":"OMIM","id":"257980","name":"Odontoonychodermal dysplasia"}
{"db":"OMIM","id":"230740","name":"Odontotrichomelic syndrome"}
{"db":"OMIM","id":"613411","name":"Oguchi disease 2"}
{"db":"OMIM","id":"258100","name":"Oguchi's disease"}
{"db":"OMIM","id":"300895","name":"Ohdo syndrome, X-linked"}
{"db":"OMIM","id":"608615","name":"Oligodontia-colorectal cancer syndrome"}
{"db":"OMIM","id":"258315","name":"Omodysplasia 1"}
{"db":"OMIM","id":"615774","name":"Oocyte maturation defect"}
{"db":"OMIM","id":"145410","name":"Opitz G/BBB syndrome"}
{"db":"OMIM","id":"300000","name":"Opitz-Frias syndrome"}
{"db":"OMIM","id":"258480","name":"Opsismodysplasia"}
{"db":"OMIM","id":"612989","name":"Optic atrophy 7"}
{"db":"OMIM","id":"165300","name":"Optic atrophy and cataract, autosomal dominant"}
{"db":"OMIM","id":"125250","name":"Optic Atrophy Type 1"}
{"db":"OMIM","id":"165550","name":"Optic nerve hypoplasia, bilateral"}
{"db":"OMIM","id":"311200","name":"Oral-facial-digital syndrome"}
{"db":"OMIM","id":"258870","name":"Ornithine aminotransferase deficiency"}
{"db":"OMIM","id":"311250","name":"Ornithine carbamoyltransferase deficiency"}
{"db":"OMIM","id":"613705","name":"Orofacial cleft 10"}
{"db":"OMIM","id":"600625","name":"Orofacial cleft 11"}
{"db":"OMIM","id":"608874","name":"Orofacial cleft 5"}
{"db":"OMIM","id":"258860","name":"Orofacial-digital syndrome IV"}
{"db":"OMIM","id":"174300","name":"Orofaciodigital syndrome 5"}
{"db":"OMIM","id":"277170","name":"Orofaciodigital syndrome 6"}
{"db":"OMIM","id":"615948","name":"Orofaciodigital syndrome xiv"}
{"db":"OMIM","id":"258900","name":"Orotic aciduria"}
{"db":"OMIM","id":"217085","name":"Orstavik Lindemann Solberg syndrome"}
{"db":"OMIM","id":"604715","name":"Orthostatic intolerance"}
{"db":"OMIM","id":"187300","name":"Osler hemorrhagic telangiectasia syndrome"}
{"db":"OMIM","id":"602080","name":"Osteitis deformans"}
{"db":"OMIM","id":"604864","name":"Osteoarthritis with mild chondrodysplasia"}
{"db":"OMIM","id":"165800","name":"Osteochondritis dissecans"}
{"db":"OMIM","id":"210710","name":"Osteodysplastic primordial dwarfism, type 1"}
{"db":"OMIM","id":"166260","name":"Osteogenesis imperfecta Levin type"}
{"db":"OMIM","id":"613848","name":"Osteogenesis imperfecta type 10"}
{"db":"OMIM","id":"613849","name":"Osteogenesis imperfecta type 11"}
{"db":"OMIM","id":"613982","name":"Osteogenesis imperfecta type 12"}
{"db":"OMIM","id":"614856","name":"Osteogenesis imperfecta type 13"}
{"db":"OMIM","id":"615220","name":"Osteogenesis imperfecta type 15"}
{"db":"OMIM","id":"610967","name":"Osteogenesis imperfecta type 5"}
{"db":"OMIM","id":"610682","name":"Osteogenesis imperfecta type 7"}
{"db":"OMIM","id":"610915","name":"Osteogenesis imperfecta type 8"}
{"db":"OMIM","id":"259440","name":"Osteogenesis imperfecta type 9"}
{"db":"OMIM","id":"166200","name":"Osteogenesis imperfecta type I"}
{"db":"OMIM","id":"259420","name":"Osteogenesis imperfecta type III"}
{"db":"OMIM","id":"166220","name":"Osteogenesis imperfecta with normal sclerae, dominant form"}
{"db":"OMIM","id":"166210","name":"Osteogenesis imperfecta, recessive perinatal lethal"}
{"db":"OMIM","id":"166250","name":"Osteoglophonic dysplasia"}
{"db":"OMIM","id":"612852","name":"Osteomyelitis, sterile multifocal, with periostitis and pustulosis"}
{"db":"OMIM","id":"300373","name":"Osteopathia striata with cranial sclerosis"}
{"db":"OMIM","id":"607634","name":"Osteopetrosis autosomal dominant type 1"}
{"db":"OMIM","id":"166600","name":"Osteopetrosis autosomal dominant type 2"}
{"db":"OMIM","id":"259700","name":"Osteopetrosis autosomal recessive 1"}
{"db":"OMIM","id":"259710","name":"Osteopetrosis autosomal recessive 2"}
{"db":"OMIM","id":"611490","name":"Osteopetrosis autosomal recessive 4"}
{"db":"OMIM","id":"259720","name":"Osteopetrosis autosomal recessive 5"}
{"db":"OMIM","id":"611497","name":"Osteopetrosis autosomal recessive 6"}
{"db":"OMIM","id":"612301","name":"Osteopetrosis autosomal recessive 7"}
{"db":"OMIM","id":"259730","name":"Osteopetrosis with renal tubular acidosis"}
{"db":"OMIM","id":"615085","name":"Osteopetrosis, autosomal recessive 8"}
{"db":"OMIM","id":"166710","name":"Osteoporosis"}
{"db":"OMIM","id":"259770","name":"Osteoporosis with pseudoglioma"}
{"db":"OMIM","id":"259500","name":"Osteosarcoma"}
{"db":"OMIM","id":"311300","name":"Oto-palato-digital syndrome, type I"}
{"db":"OMIM","id":"304120","name":"Oto-palato-digital syndrome, type II"}
{"db":"OMIM","id":"166780","name":"Otofaciocervical syndrome"}
{"db":"OMIM","id":"615560","name":"Otofaciocervical syndrome 2"}
{"db":"OMIM","id":"215150","name":"Otospondylomegaepiphyseal dysplasia"}
{"db":"OMIM","id":"233300","name":"Ovarian dysgenesis 1"}
{"db":"OMIM","id":"300510","name":"Ovarian dysgenesis 2"}
{"db":"OMIM","id":"614324","name":"Ovarian dysgenesis 3"}
{"db":"OMIM","id":"616185","name":"Ovarian dysgenesis 4"}
{"db":"OMIM","id":"608115","name":"Ovarian hyperstimulation syndrome"}
{"db":"OMIM","id":"259100","name":"Pachydermoperiostosis syndrome"}
{"db":"OMIM","id":"167210","name":"Pachyonychia congenita type 2"}
{"db":"OMIM","id":"167200","name":"Pachyonychia congenita, type 1"}
{"db":"OMIM","id":"146510","name":"Pallister-Hall syndrome"}
{"db":"OMIM","id":"610644","name":"Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,XX sex reversal"}
{"db":"OMIM","id":"616099","name":"Palmoplantar keratoderma and woolly hair"}
{"db":"OMIM","id":"614594","name":"Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques"}
{"db":"OMIM","id":"300918","name":"Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, X-linked"}
{"db":"OMIM","id":"615598","name":"Palmoplantar keratoderma, nagashima type"}
{"db":"OMIM","id":"600962","name":"Palmoplantar keratoderma, nonepidermolytic"}
{"db":"OMIM","id":"613000","name":"Palmoplantar keratoderma, nonepidermolytic, focal"}
{"db":"OMIM","id":"615735","name":"Palmoplantar keratoderma, nonepidermolytic, focal or diffuse"}
{"db":"OMIM","id":"600001","name":"Pancreatic agenesis and congenital heart disease"}
{"db":"OMIM","id":"312000","name":"Panhypopituitarism X-linked"}
{"db":"OMIM","id":"245000","name":"Papillon-Lef vre syndrome"}
{"db":"OMIM","id":"606864","name":"Paraganglioma and gastric stromal sarcoma"}
{"db":"OMIM","id":"168000","name":"Paragangliomas 1"}
{"db":"OMIM","id":"601650","name":"Paragangliomas 2"}
{"db":"OMIM","id":"605373","name":"Paragangliomas 3"}
{"db":"OMIM","id":"115310","name":"Paragangliomas 4"}
{"db":"OMIM","id":"614165","name":"Paragangliomas 5"}
{"db":"OMIM","id":"168300","name":"Paramyotonia congenita of von Eulenburg"}
{"db":"OMIM","id":"168400","name":"Parastremmatic dwarfism"}
{"db":"OMIM","id":"608266","name":"Parathyroid carcinoma"}
{"db":"OMIM","id":"168500","name":"Parietal foramina"}
{"db":"OMIM","id":"609597","name":"Parietal foramina 2"}
{"db":"OMIM","id":"168550","name":"Parietal foramina with cleidocranial dysplasia"}
{"db":"OMIM","id":"608355","name":"Parkes Weber syndrome"}
{"db":"OMIM","id":"168601","name":"Parkinson disease 1"}
{"db":"OMIM","id":"607688","name":"Parkinson disease 11"}
{"db":"OMIM","id":"610297","name":"Parkinson disease 13"}
{"db":"OMIM","id":"612953","name":"Parkinson disease 14"}
{"db":"OMIM","id":"260300","name":"Parkinson disease 15"}
{"db":"OMIM","id":"614203","name":"Parkinson disease 17"}
{"db":"OMIM","id":"614251","name":"Parkinson disease 18"}
{"db":"OMIM","id":"615528","name":"Parkinson disease 19, juvenile-onset"}
{"db":"OMIM","id":"600116","name":"Parkinson disease 2"}
{"db":"OMIM","id":"615530","name":"Parkinson disease 20, early-onset"}
{"db":"OMIM","id":"605543","name":"Parkinson disease 4"}
{"db":"OMIM","id":"605909","name":"Parkinson disease 6, autosomal recessive early-onset"}
{"db":"OMIM","id":"606324","name":"Parkinson disease 7"}
{"db":"OMIM","id":"607060","name":"Parkinson disease 8, autosomal dominant"}
{"db":"OMIM","id":"606693","name":"Parkinson disease 9"}
{"db":"OMIM","id":"168600","name":"Parkinson disease, late-onset"}
{"db":"OMIM","id":"300911","name":"Parkinsonism with spasticity, X-linked"}
{"db":"OMIM","id":"311510","name":"Parkinsonism, early onset with mental retardation"}
{"db":"OMIM","id":"118800","name":"Paroxysmal choreoathetosis"}
{"db":"OMIM","id":"167400","name":"Paroxysmal extreme pain disorder"}
{"db":"OMIM","id":"603829","name":"Paroxysmal familial ventricular fibrillation"}
{"db":"OMIM","id":"172800","name":"Partial albinism"}
{"db":"OMIM","id":"106600","name":"Partial congenital absence of teeth"}
{"db":"OMIM","id":"300323","name":"Partial hypoxanthine-guanine phosphoribosyltransferase deficiency"}
{"db":"OMIM","id":"169150","name":"Patterned dystrophy of retinal pigment epithelium"}
{"db":"OMIM","id":"270300","name":"Peeling skin syndrome"}
{"db":"OMIM","id":"609796","name":"Peeling skin syndrome, acral type"}
{"db":"OMIM","id":"169400","name":"Pelger-Hu t anomaly"}
{"db":"OMIM","id":"312080","name":"Pelizaeus-Merzbacher disease"}
{"db":"OMIM","id":"208150","name":"Pena-Shokeir syndrome type I"}
{"db":"OMIM","id":"274600","name":"Pendred's syndrome"}
{"db":"OMIM","id":"614674","name":"Periodic fever, menstrual cycle-dependent"}
{"db":"OMIM","id":"170650","name":"Periodontitis, aggressive, 1"}
{"db":"OMIM","id":"609136","name":"Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease"}
{"db":"OMIM","id":"614369","name":"Peripheral neuropathy, myopathy, hoarseness, and hearing loss"}
{"db":"OMIM","id":"615544","name":"Periventricular nodular heterotopia 6"}
{"db":"OMIM","id":"606176","name":"Permanent neonatal diabetes mellitus"}
{"db":"OMIM","id":"616154","name":"Peroxisomal fatty acyl-coa reductase 1 disorder"}
{"db":"OMIM","id":"614882","name":"Peroxisome biogenesis disorder 10A"}
{"db":"OMIM","id":"614883","name":"Peroxisome biogenesis disorder 11A"}
{"db":"OMIM","id":"614885","name":"Peroxisome biogenesis disorder 11B"}
{"db":"OMIM","id":"614886","name":"Peroxisome biogenesis disorder 12A"}
{"db":"OMIM","id":"614887","name":"Peroxisome biogenesis disorder 13A"}
{"db":"OMIM","id":"614920","name":"Peroxisome biogenesis disorder 14B"}
{"db":"OMIM","id":"601539","name":"Peroxisome biogenesis disorder 1B"}
{"db":"OMIM","id":"214110","name":"Peroxisome biogenesis disorder 2A"}
{"db":"OMIM","id":"614859","name":"Peroxisome biogenesis disorder 3A"}
{"db":"OMIM","id":"614862","name":"Peroxisome biogenesis disorder 4A"}
{"db":"OMIM","id":"614863","name":"Peroxisome biogenesis disorder 4B"}
{"db":"OMIM","id":"614866","name":"Peroxisome biogenesis disorder 5A"}
{"db":"OMIM","id":"614867","name":"Peroxisome biogenesis disorder 5B"}
{"db":"OMIM","id":"614870","name":"Peroxisome biogenesis disorder 6A"}
{"db":"OMIM","id":"614871","name":"Peroxisome biogenesis disorder 6B"}
{"db":"OMIM","id":"614872","name":"Peroxisome biogenesis disorder 7A"}
{"db":"OMIM","id":"614873","name":"Peroxisome biogenesis disorder 7B"}
{"db":"OMIM","id":"614876","name":"Peroxisome biogenesis disorder 8A"}
{"db":"OMIM","id":"614877","name":"Peroxisome biogenesis disorder 8B"}
{"db":"OMIM","id":"614879","name":"Peroxisome biogenesis disorder 9B"}
{"db":"OMIM","id":"614926","name":"Perrault syndrome 2"}
{"db":"OMIM","id":"615300","name":"Perrault syndrome 4"}
{"db":"OMIM","id":"616138","name":"Perrault syndrome 5"}
{"db":"OMIM","id":"168605","name":"Perry syndrome"}
{"db":"OMIM","id":"256450","name":"Persistent hyperinsulinemic hypoglycemia of infancy"}
{"db":"OMIM","id":"221900","name":"Persistent hyperplastic primary vitreous, autosomal recessive"}
{"db":"OMIM","id":"606445","name":"Persistent polyclonal B-cell lymphocytosis"}
{"db":"OMIM","id":"261540","name":"Peters plus syndrome"}
{"db":"OMIM","id":"175200","name":"Peutz-Jeghers syndrome"}
{"db":"OMIM","id":"101600","name":"Pfeiffer syndrome"}
{"db":"OMIM","id":"261600","name":"Phenylketonuria"}
{"db":"OMIM","id":"171300","name":"Pheochromocytoma"}
{"db":"OMIM","id":"232240","name":"Phosphate transport defect"}
{"db":"OMIM","id":"601815","name":"Phosphoglycerate dehydrogenase deficiency"}
{"db":"OMIM","id":"300653","name":"Phosphoglycerate kinase 1 deficiency"}
{"db":"OMIM","id":"300661","name":"Phosphoribosylpyrophosphate synthetase superactivity"}
{"db":"OMIM","id":"610992","name":"Phosphoserine aminotransferase deficiency"}
{"db":"OMIM","id":"601675","name":"Photosensitive trichothiodystrophy"}
{"db":"OMIM","id":"172700","name":"Pick's disease"}
{"db":"OMIM","id":"609049","name":"Pierson syndrome"}
{"db":"OMIM","id":"234200","name":"Pigmentary pallidal degeneration"}
{"db":"OMIM","id":"136880","name":"Pigmentary retinal dystrophy"}
{"db":"OMIM","id":"610489","name":"Pigmented nodular adrenocortical disease, primary, 1"}
{"db":"OMIM","id":"610475","name":"Pigmented nodular adrenocortical disease, primary, 2"}
{"db":"OMIM","id":"614190","name":"Pigmented nodular adrenocortical disease, primary, 3"}
{"db":"OMIM","id":"172870","name":"Pigmented paravenous chorioretinal atrophy"}
{"db":"OMIM","id":"262000","name":"Pili torti-deafness syndrome"}
{"db":"OMIM","id":"262190","name":"Pineal hyperplasia AND diabetes mellitus syndrome"}
{"db":"OMIM","id":"610954","name":"Pitt-Hopkins syndrome"}
{"db":"OMIM","id":"614325","name":"Pitt-Hopkins-like syndrome 2"}
{"db":"OMIM","id":"219090","name":"Pituitary dependent hypercortisolism"}
{"db":"OMIM","id":"613038","name":"Pituitary hormone deficiency, combined 1"}
{"db":"OMIM","id":"262600","name":"Pituitary hormone deficiency, combined 2"}
{"db":"OMIM","id":"221750","name":"Pituitary hormone deficiency, combined 3"}
{"db":"OMIM","id":"262700","name":"Pituitary hormone deficiency, combined 4"}
{"db":"OMIM","id":"613986","name":"Pituitary hormone deficiency, combined 6"}
{"db":"OMIM","id":"173200","name":"Pityriasis rubra pilaris"}
{"db":"OMIM","id":"613329","name":"Plasminogen activator inhibitor type 1 deficiency"}
{"db":"OMIM","id":"217090","name":"Plasminogen deficiency, type I"}
{"db":"OMIM","id":"608404","name":"Platelet glycoprotein IV deficiency"}
{"db":"OMIM","id":"614201","name":"Platelet-type bleeding disorder 11"}
{"db":"OMIM","id":"615193","name":"Platelet-type bleeding disorder 15"}
{"db":"OMIM","id":"187800","name":"Platelet-type bleeding disorder 16"}
{"db":"OMIM","id":"187900","name":"Platelet-type bleeding disorder 17"}
{"db":"OMIM","id":"609821","name":"Platelet-type bleeding disorder 8"}
{"db":"OMIM","id":"151210","name":"Platyspondylic lethal skeletal dysplasia Torrance type"}
{"db":"OMIM","id":"173600","name":"Pneumothorax, primary spontaneous"}
{"db":"OMIM","id":"604173","name":"Poikiloderma with neutropenia"}
{"db":"OMIM","id":"615704","name":"Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis"}
{"db":"OMIM","id":"615688","name":"Polyarteritis nodosa"}
{"db":"OMIM","id":"613095","name":"Polycystic kidney disease 2"}
{"db":"OMIM","id":"173900","name":"Polycystic kidney disease, adult type"}
{"db":"OMIM","id":"263200","name":"Polycystic kidney disease, infantile type"}
{"db":"OMIM","id":"221770","name":"Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy"}
{"db":"OMIM","id":"616113","name":"Polyendocrine-polyneuropathy syndrome"}
{"db":"OMIM","id":"240300","name":"Polyglandular autoimmune syndrome, type 1"}
{"db":"OMIM","id":"615895","name":"Polyglucosan body myopathy 1 with or without immunodeficiency"}
{"db":"OMIM","id":"616199","name":"Polyglucosan body myopathy 2"}
{"db":"OMIM","id":"611087","name":"Polyhydramnios, megalencephaly, and symptomatic epilepsy"}
{"db":"OMIM","id":"613180","name":"Polymicrogyria with optic nerve hypoplasia"}
{"db":"OMIM","id":"614833","name":"Polymicrogyria with seizures"}
{"db":"OMIM","id":"610031","name":"Polymicrogyria, asymmetric"}
{"db":"OMIM","id":"606854","name":"Polymicrogyria, bilateral frontoparietal"}
{"db":"OMIM","id":"612691","name":"Polymicrogyria, bilateral occipital"}
{"db":"OMIM","id":"122000","name":"Polymorphous corneal dystrophy"}
{"db":"OMIM","id":"612674","name":"Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract"}
{"db":"OMIM","id":"607596","name":"Pontocerebellar hypoplasia type 1"}
{"db":"OMIM","id":"277470","name":"Pontocerebellar hypoplasia type 2A"}
{"db":"OMIM","id":"612389","name":"Pontocerebellar hypoplasia type 2B"}
{"db":"OMIM","id":"612390","name":"Pontocerebellar hypoplasia type 2C"}
{"db":"OMIM","id":"613811","name":"Pontocerebellar hypoplasia type 2D"}
{"db":"OMIM","id":"225753","name":"Pontocerebellar hypoplasia type 4"}
{"db":"OMIM","id":"610204","name":"Pontocerebellar hypoplasia type 5"}
{"db":"OMIM","id":"611523","name":"Pontocerebellar hypoplasia type 6"}
{"db":"OMIM","id":"614961","name":"Pontocerebellar hypoplasia type 8"}
{"db":"OMIM","id":"615803","name":"Pontocerebellar hypoplasia, type 10"}
{"db":"OMIM","id":"614678","name":"Pontocerebellar hypoplasia, type 1b"}
{"db":"OMIM","id":"616081","name":"Pontocerebellar hypoplasia, type 1c"}
{"db":"OMIM","id":"615851","name":"Pontocerebellar hypoplasia, type 2e"}
{"db":"OMIM","id":"615809","name":"Pontocerebellar hypoplasia, type 9"}
{"db":"OMIM","id":"119500","name":"Popliteal pterygium syndrome"}
{"db":"OMIM","id":"263650","name":"Popliteal pterygium syndrome lethal type"}
{"db":"OMIM","id":"614483","name":"Porencephaly 2"}
{"db":"OMIM","id":"615960","name":"Poretti-boltshauser syndrome"}
{"db":"OMIM","id":"175900","name":"Porokeratosis, disseminated superficial actinic 1"}
{"db":"OMIM","id":"612740","name":"Porphobilinogen synthase deficiency"}
{"db":"OMIM","id":"174200","name":"Postaxial polydactyly type A1"}
{"db":"OMIM","id":"615226","name":"Postaxial polydactyly type A6"}
{"db":"OMIM","id":"609033","name":"Posterior column ataxia with retinitis pigmentosa"}
{"db":"OMIM","id":"613763","name":"Posterior polar cataract type 2"}
{"db":"OMIM","id":"608390","name":"Potassium aggravated myotonia"}
{"db":"OMIM","id":"615547","name":"Prader-Willi-like syndrome"}
{"db":"OMIM","id":"176305","name":"Preaxial deficiency, postaxial polydactyly and hypospadias"}
{"db":"OMIM","id":"174500","name":"Preaxial polydactyly 2"}
{"db":"OMIM","id":"174700","name":"Preaxial polydactyly 4"}
{"db":"OMIM","id":"615346","name":"Precocious puberty, central, 2"}
{"db":"OMIM","id":"609404","name":"Preeclampsia/eclampsia 4"}
{"db":"OMIM","id":"614595","name":"Preeclampsia/eclampsia 5"}
{"db":"OMIM","id":"612423","name":"Prekallikrein deficiency"}
{"db":"OMIM","id":"176430","name":"Premature chromatid separation trait"}
{"db":"OMIM","id":"311360","name":"Premature ovarian failure 1"}
{"db":"OMIM","id":"300511","name":"Premature ovarian failure 2a"}
{"db":"OMIM","id":"300604","name":"Premature ovarian failure 2b"}
{"db":"OMIM","id":"608996","name":"Premature ovarian failure 3"}
{"db":"OMIM","id":"611548","name":"Premature ovarian failure 5"}
{"db":"OMIM","id":"612310","name":"Premature ovarian failure 6"}
{"db":"OMIM","id":"612964","name":"Premature ovarian failure 7"}
{"db":"OMIM","id":"615723","name":"Premature ovarian failure 8"}
{"db":"OMIM","id":"615724","name":"Premature ovarian failure 9"}
{"db":"OMIM","id":"610504","name":"Preterm premature rupture of membranes"}
{"db":"OMIM","id":"131850","name":"Pretibial epidermolysis bullosa"}
{"db":"OMIM","id":"615474","name":"Primary aldosteronism, seizures, and neurologic abnormalities"}
{"db":"OMIM","id":"251200","name":"Primary autosomal recessive microcephaly 1"}
{"db":"OMIM","id":"604317","name":"Primary autosomal recessive microcephaly 2"}
{"db":"OMIM","id":"604804","name":"Primary autosomal recessive microcephaly 3"}
{"db":"OMIM","id":"604321","name":"Primary autosomal recessive microcephaly 4"}
{"db":"OMIM","id":"608716","name":"Primary autosomal recessive microcephaly 5"}
{"db":"OMIM","id":"608393","name":"Primary autosomal recessive microcephaly 6"}
{"db":"OMIM","id":"612703","name":"Primary autosomal recessive microcephaly 7"}
{"db":"OMIM","id":"614673","name":"Primary autosomal recessive microcephaly 8"}
{"db":"OMIM","id":"615451","name":"Primary ciliary dyskinesia 23"}
{"db":"OMIM","id":"615481","name":"Primary ciliary dyskinesia 24"}
{"db":"OMIM","id":"615482","name":"Primary ciliary dyskinesia 25"}
{"db":"OMIM","id":"133020","name":"Primary erythromelalgia"}
{"db":"OMIM","id":"259900","name":"Primary hyperoxaluria, type I"}
{"db":"OMIM","id":"260000","name":"Primary hyperoxaluria, type II"}
{"db":"OMIM","id":"613616","name":"Primary hyperoxaluria, type III"}
{"db":"OMIM","id":"614441","name":"Primary hypertrophic osteoarthropathy, autosomal recessive 2"}
{"db":"OMIM","id":"248250","name":"Primary hypomagnesemia"}
{"db":"OMIM","id":"105250","name":"Primary localized cutaneous amyloidosis 1"}
{"db":"OMIM","id":"137760","name":"Primary open angle glaucoma"}
{"db":"OMIM","id":"137750","name":"Primary open angle glaucoma juvenile onset 1"}
{"db":"OMIM","id":"178600","name":"Primary pulmonary hypertension"}
{"db":"OMIM","id":"615342","name":"Primary pulmonary hypertension 2"}
{"db":"OMIM","id":"615343","name":"Primary pulmonary hypertension 3"}
{"db":"OMIM","id":"259050","name":"Primrose syndrome"}
{"db":"OMIM","id":"211500","name":"Progressive bulbar palsy of childhood"}
{"db":"OMIM","id":"615156","name":"Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6"}
{"db":"OMIM","id":"113900","name":"Progressive familial heart block type 1A"}
{"db":"OMIM","id":"604559","name":"Progressive familial heart block type 1B"}
{"db":"OMIM","id":"601847","name":"Progressive familial intrahepatic cholestasis 2"}
{"db":"OMIM","id":"602347","name":"Progressive familial intrahepatic cholestasis 3"}
{"db":"OMIM","id":"615878","name":"Progressive familial intrahepatic cholestasis 4"}
{"db":"OMIM","id":"211600","name":"Progressive intrahepatic cholestasis"}
{"db":"OMIM","id":"612437","name":"Progressive myoclonus epilepsy with ataxia"}
{"db":"OMIM","id":"135100","name":"Progressive myositis ossificans"}
{"db":"OMIM","id":"166350","name":"Progressive osseous heteroplasia"}
{"db":"OMIM","id":"208230","name":"Progressive pseudorheumatoid dysplasia"}
{"db":"OMIM","id":"203700","name":"Progressive sclerosing poliodystrophy"}
{"db":"OMIM","id":"601104","name":"Progressive supranuclear ophthalmoplegia"}
{"db":"OMIM","id":"600634","name":"Prolactinoma, familial"}
{"db":"OMIM","id":"170100","name":"Prolidase deficiency"}
{"db":"OMIM","id":"225790","name":"Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome"}
{"db":"OMIM","id":"239500","name":"Proline dehydrogenase deficiency"}
{"db":"OMIM","id":"608415","name":"Prolonged electroretinal response suppression"}
{"db":"OMIM","id":"609734","name":"Proopiomelanocortin deficiency"}
{"db":"OMIM","id":"312060","name":"Properdin deficiency, X-linked"}
{"db":"OMIM","id":"606054","name":"Propionic acidemia"}
{"db":"OMIM","id":"600955","name":"Proprotein convertase 1/3 deficiency"}
{"db":"OMIM","id":"601518","name":"Prostate cancer, hereditary, 1"}
{"db":"OMIM","id":"303900","name":"Protan defect"}
{"db":"OMIM","id":"612336","name":"Protein S deficiency"}
{"db":"OMIM","id":"308990","name":"Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis"}
{"db":"OMIM","id":"613679","name":"Prothrombin deficiency, congenital"}
{"db":"OMIM","id":"300752","name":"Protoporphyria, erythropoietic, X-linked"}
{"db":"OMIM","id":"300004","name":"Proud Levine Carpenter syndrome"}
{"db":"OMIM","id":"100100","name":"Prune belly syndrome"}
{"db":"OMIM","id":"177820","name":"Pseudo von Willebrand disease"}
{"db":"OMIM","id":"252600","name":"Pseudo-Hurler polydystrophy"}
{"db":"OMIM","id":"177170","name":"Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome"}
{"db":"OMIM","id":"177735","name":"Pseudohypoaldosteronism type 1 autosomal dominant"}
{"db":"OMIM","id":"264350","name":"Pseudohypoaldosteronism type 1 autosomal recessive"}
{"db":"OMIM","id":"614491","name":"Pseudohypoaldosteronism type 2B"}
{"db":"OMIM","id":"614492","name":"Pseudohypoaldosteronism type 2C"}
{"db":"OMIM","id":"614495","name":"Pseudohypoaldosteronism type 2D"}
{"db":"OMIM","id":"614496","name":"Pseudohypoaldosteronism type 2E"}
{"db":"OMIM","id":"145260","name":"Pseudohypoaldosteronism, type 2"}
{"db":"OMIM","id":"103580","name":"Pseudohypoparathyroidism type 1A"}
{"db":"OMIM","id":"603233","name":"Pseudohypoparathyroidism type 1B"}
{"db":"OMIM","id":"612462","name":"Pseudohypoparathyroidism type 1C"}
{"db":"OMIM","id":"264470","name":"Pseudoneonatal adrenoleukodystrophy"}
{"db":"OMIM","id":"177200","name":"Pseudoprimary hyperaldosteronism"}
{"db":"OMIM","id":"612463","name":"Pseudopseudohypoparathyroidism"}
{"db":"OMIM","id":"264800","name":"Pseudoxanthoma elasticum"}
{"db":"OMIM","id":"610842","name":"Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency"}
{"db":"OMIM","id":"614501","name":"Psychomotor retardation, epilepsy, and craniofacial dysmorphism"}
{"db":"OMIM","id":"265100","name":"Pulmonary alveolar microlithiasis"}
{"db":"OMIM","id":"614742","name":"PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1"}
{"db":"OMIM","id":"614743","name":"PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 2"}
{"db":"OMIM","id":"613179","name":"Purine-nucleoside phosphorylase deficiency"}
{"db":"OMIM","id":"614204","name":"Pustular psoriasis, generalized"}
{"db":"OMIM","id":"265800","name":"Pyknodysostosis"}
{"db":"OMIM","id":"604416","name":"Pyogenic arthritis, pyoderma gangrenosum and acne"}
{"db":"OMIM","id":"610090","name":"Pyridoxal 5'-phosphate-dependent epilepsy"}
{"db":"OMIM","id":"266100","name":"Pyridoxine-dependent epilepsy"}
{"db":"OMIM","id":"266150","name":"Pyruvate carboxylase deficiency"}
{"db":"OMIM","id":"312170","name":"Pyruvate dehydrogenase E1-alpha deficiency"}
{"db":"OMIM","id":"614111","name":"Pyruvate dehydrogenase E1-beta deficiency"}
{"db":"OMIM","id":"245348","name":"Pyruvate dehydrogenase E2 deficiency"}
{"db":"OMIM","id":"245349","name":"Pyruvate dehydrogenase E3-binding protein deficiency"}
{"db":"OMIM","id":"614462","name":"Pyruvate dehydrogenase lipoic acid synthetase deficiency"}
{"db":"OMIM","id":"608782","name":"Pyruvate dehydrogenase phosphatase deficiency"}
{"db":"OMIM","id":"266200","name":"Pyruvate kinase deficiency"}
{"db":"OMIM","id":"601709","name":"Quebec platelet disorder"}
{"db":"OMIM","id":"612798","name":"Question mark ears, isolated"}
{"db":"OMIM","id":"274000","name":"Radial aplasia-thrombocytopenia syndrome"}
{"db":"OMIM","id":"111620","name":"Radin blood group"}
{"db":"OMIM","id":"614416","name":"Radiohumeral fusions with other skeletal and craniofacial anomalies"}
{"db":"OMIM","id":"605432","name":"Radioulnar synostosis with amegakaryocytic thrombocytopenia"}
{"db":"OMIM","id":"259775","name":"Raine syndrome"}
{"db":"OMIM","id":"266280","name":"Rapadilino syndrome"}
{"db":"OMIM","id":"129400","name":"Rapp-Hodgkin ectodermal dysplasia syndrome"}
{"db":"OMIM","id":"226600","name":"Recessive dystrophic epidermolysis bullosa"}
{"db":"OMIM","id":"608118","name":"Reduced zinc in breast milk"}
{"db":"OMIM","id":"312300","name":"Reifenstein syndrome"}
{"db":"OMIM","id":"608470","name":"Reis-Bucklers' corneal dystrophy"}
{"db":"OMIM","id":"191830","name":"Renal adysplasia"}
{"db":"OMIM","id":"212140","name":"Renal carnitine transport defect"}
{"db":"OMIM","id":"605074","name":"Renal cell carcinoma, papillary, 1"}
{"db":"OMIM","id":"120330","name":"Renal coloboma syndrome"}
{"db":"OMIM","id":"267430","name":"Renal dysplasia"}
{"db":"OMIM","id":"266920","name":"Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia"}
{"db":"OMIM","id":"267000","name":"Renal hamartomas nephroblastomatosis and fetal gigantism"}
{"db":"OMIM","id":"615721","name":"Renal hypodysplasia/aplasia 2"}
{"db":"OMIM","id":"612076","name":"Renal hypouricemia 2"}
{"db":"OMIM","id":"267300","name":"Renal tubular acidosis with progressive nerve deafness"}
{"db":"OMIM","id":"179800","name":"Renal tubular acidosis, distal, autosomal dominant"}
{"db":"OMIM","id":"602722","name":"Renal tubular acidosis, distal, autosomal recessive"}
{"db":"OMIM","id":"611590","name":"Renal tubular acidosis, distal, with hemolytic anemia"}
{"db":"OMIM","id":"604278","name":"Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation"}
{"db":"OMIM","id":"208540","name":"Renal-hepatic-pancreatic dysplasia"}
{"db":"OMIM","id":"615415","name":"Renal-hepatic-pancreatic dysplasia 2"}
{"db":"OMIM","id":"309500","name":"Renpenning syndrome 1"}
{"db":"OMIM","id":"267500","name":"Reticular dysgenesis"}
{"db":"OMIM","id":"615537","name":"Reticulate acropigmentation of Kitamura"}
{"db":"OMIM","id":"610024","name":"Retinal cone dystrophy 3A"}
{"db":"OMIM","id":"610356","name":"Retinal cone dystrophy 3B"}
{"db":"OMIM","id":"610478","name":"Retinal cone dystrophy 4"}
{"db":"OMIM","id":"616188","name":"Retinal dystrophy and obesity"}
{"db":"OMIM","id":"616079","name":"Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities"}
{"db":"OMIM","id":"615147","name":"Retinal dystrophy, iris coloboma, and comedogenic acne syndrome"}
{"db":"OMIM","id":"616108","name":"Retinal dystrophy, juvenile cataracts, and short stature syndrome"}
{"db":"OMIM","id":"180100","name":"Retinitis pigmentosa 1"}
{"db":"OMIM","id":"180105","name":"Retinitis pigmentosa 10"}
{"db":"OMIM","id":"600138","name":"Retinitis pigmentosa 11"}
{"db":"OMIM","id":"600105","name":"Retinitis pigmentosa 12"}
{"db":"OMIM","id":"600059","name":"Retinitis pigmentosa 13"}
{"db":"OMIM","id":"600132","name":"Retinitis pigmentosa 14"}
{"db":"OMIM","id":"300029","name":"Retinitis pigmentosa 15"}
{"db":"OMIM","id":"600852","name":"Retinitis pigmentosa 17"}
{"db":"OMIM","id":"601414","name":"Retinitis pigmentosa 18"}
{"db":"OMIM","id":"601718","name":"Retinitis pigmentosa 19"}
{"db":"OMIM","id":"312600","name":"Retinitis pigmentosa 2"}
{"db":"OMIM","id":"613794","name":"Retinitis pigmentosa 20"}
{"db":"OMIM","id":"300424","name":"Retinitis Pigmentosa 23"}
{"db":"OMIM","id":"602772","name":"Retinitis pigmentosa 25"}
{"db":"OMIM","id":"608380","name":"Retinitis pigmentosa 26"}
{"db":"OMIM","id":"613750","name":"Retinitis pigmentosa 27"}
{"db":"OMIM","id":"606068","name":"Retinitis pigmentosa 28"}
{"db":"OMIM","id":"607921","name":"Retinitis pigmentosa 30"}
{"db":"OMIM","id":"609923","name":"Retinitis pigmentosa 31"}
{"db":"OMIM","id":"610359","name":"Retinitis pigmentosa 33"}
{"db":"OMIM","id":"610282","name":"Retinitis pigmentosa 35"}
{"db":"OMIM","id":"610599","name":"Retinitis pigmentosa 36"}
{"db":"OMIM","id":"611131","name":"Retinitis pigmentosa 37"}
{"db":"OMIM","id":"613862","name":"Retinitis pigmentosa 38"}
{"db":"OMIM","id":"613809","name":"Retinitis pigmentosa 39"}
{"db":"OMIM","id":"613731","name":"Retinitis pigmentosa 4"}
{"db":"OMIM","id":"613801","name":"Retinitis pigmentosa 40"}
{"db":"OMIM","id":"612095","name":"Retinitis pigmentosa 41"}
{"db":"OMIM","id":"612943","name":"Retinitis pigmentosa 42"}
{"db":"OMIM","id":"613810","name":"Retinitis pigmentosa 43"}
{"db":"OMIM","id":"613769","name":"Retinitis pigmentosa 44"}
{"db":"OMIM","id":"613767","name":"Retinitis pigmentosa 45"}
{"db":"OMIM","id":"612572","name":"Retinitis pigmentosa 46"}
{"db":"OMIM","id":"613758","name":"Retinitis pigmentosa 47"}
{"db":"OMIM","id":"613827","name":"Retinitis pigmentosa 48"}
{"db":"OMIM","id":"613756","name":"Retinitis pigmentosa 49"}
{"db":"OMIM","id":"613194","name":"Retinitis pigmentosa 50"}
{"db":"OMIM","id":"613464","name":"Retinitis pigmentosa 51"}
{"db":"OMIM","id":"613428","name":"Retinitis pigmentosa 54"}
{"db":"OMIM","id":"613575","name":"Retinitis pigmentosa 55"}
{"db":"OMIM","id":"613581","name":"Retinitis pigmentosa 56"}
{"db":"OMIM","id":"613582","name":"Retinitis pigmentosa 57"}
{"db":"OMIM","id":"613617","name":"Retinitis pigmentosa 58"}
{"db":"OMIM","id":"613861","name":"Retinitis pigmentosa 59"}
{"db":"OMIM","id":"613983","name":"Retinitis pigmentosa 60"}
{"db":"OMIM","id":"614180","name":"Retinitis pigmentosa 61"}
{"db":"OMIM","id":"614181","name":"Retinitis pigmentosa 62"}
{"db":"OMIM","id":"615233","name":"Retinitis pigmentosa 66"}
{"db":"OMIM","id":"615565","name":"Retinitis pigmentosa 67"}
{"db":"OMIM","id":"615725","name":"Retinitis pigmentosa 68"}
{"db":"OMIM","id":"615780","name":"Retinitis pigmentosa 69"}
{"db":"OMIM","id":"608133","name":"Retinitis pigmentosa 7"}
{"db":"OMIM","id":"615922","name":"Retinitis pigmentosa 70"}
{"db":"OMIM","id":"180104","name":"Retinitis pigmentosa 9"}
{"db":"OMIM","id":"615434","name":"Retinitis pigmentosa with or without situs inversus"}
{"db":"OMIM","id":"300455","name":"Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness"}
{"db":"OMIM","id":"180200","name":"Retinoblastoma"}
{"db":"OMIM","id":"613454","name":"Rett syndrome, congenital variant"}
{"db":"OMIM","id":"312750","name":"Rett's disorder"}
{"db":"OMIM","id":"268130","name":"Revesz syndrome"}
{"db":"OMIM","id":"613471","name":"Reynolds syndrome"}
{"db":"OMIM","id":"609322","name":"Rhabdoid tumor predisposition syndrome 1"}
{"db":"OMIM","id":"613325","name":"Rhabdoid tumor predisposition syndrome 2"}
{"db":"OMIM","id":"215100","name":"Rhizomelic chondrodysplasia punctata type 1"}
{"db":"OMIM","id":"222765","name":"Rhizomelic chondrodysplasia punctata type 2"}
{"db":"OMIM","id":"600121","name":"Rhizomelic chondrodysplasia punctata type 3"}
{"db":"OMIM","id":"268305","name":"Richieri Costa Pereira syndrome"}
{"db":"OMIM","id":"611943","name":"Riddle syndrome"}
{"db":"OMIM","id":"615582","name":"Rienhoff syndrome"}
{"db":"OMIM","id":"614498","name":"Rigidity and multifocal seizure syndrome, lethal neonatal"}
{"db":"OMIM","id":"180550","name":"Ring dermoid of cornea"}
{"db":"OMIM","id":"606072","name":"Rippling muscle disease"}
{"db":"OMIM","id":"268300","name":"Roberts-SC phocomelia syndrome"}
{"db":"OMIM","id":"269000","name":"Roberts-SC phocomelia syndrome"}
{"db":"OMIM","id":"180750","name":"Robinow Sorauf syndrome"}
{"db":"OMIM","id":"180700","name":"Robinow syndrome"}
{"db":"OMIM","id":"268310","name":"Robinow syndrome, autosomal recessive"}
{"db":"OMIM","id":"300643","name":"Rolandic epilepsy with mental retardation and speech dyspraxia, X-linked"}
{"db":"OMIM","id":"268400","name":"Rothmund-Thomson syndrome"}
{"db":"OMIM","id":"237450","name":"Rotor syndrome"}
{"db":"OMIM","id":"180800","name":"Roussy-L vy syndrome"}
{"db":"OMIM","id":"180849","name":"Rubinstein-Taybi syndrome"}
{"db":"OMIM","id":"613684","name":"Rubinstein-Taybi syndrome 2"}
{"db":"OMIM","id":"616200","name":"Ruijs-aalfs syndrome"}
{"db":"OMIM","id":"615709","name":"Sacral agenesis with vertebral anomalies"}
{"db":"OMIM","id":"101400","name":"Saethre-Chotzen syndrome"}
{"db":"OMIM","id":"604369","name":"Salla disease"}
{"db":"OMIM","id":"268800","name":"Sandhoff disease"}
{"db":"OMIM","id":"609464","name":"Sarcoidosis, early-onset"}
{"db":"OMIM","id":"268900","name":"Sarcosine dehydrogenase deficiency"}
{"db":"OMIM","id":"254110","name":"Sarcotubular myopathy"}
{"db":"OMIM","id":"181270","name":"Scalp ear nipple syndrome"}
{"db":"OMIM","id":"609579","name":"Scaphocephaly, maxillary retrusion, and mental retardation"}
{"db":"OMIM","id":"181430","name":"Scapuloperoneal myopathy, MYH7-related"}
{"db":"OMIM","id":"300695","name":"Scapuloperoneal myopathy, X-linked dominant"}
{"db":"OMIM","id":"181405","name":"Scapuloperoneal spinal muscular atrophy"}
{"db":"OMIM","id":"181400","name":"Scapuloperoneal syndrome, neurogenic, Kaeser type"}
{"db":"OMIM","id":"242900","name":"Schimke immunoosseous dysplasia"}
{"db":"OMIM","id":"609241","name":"Schindler disease, type 1"}
{"db":"OMIM","id":"269150","name":"Schinzel-Giedion syndrome"}
{"db":"OMIM","id":"269160","name":"Schizencephaly"}
{"db":"OMIM","id":"613950","name":"Schizophrenia 15"}
{"db":"OMIM","id":"269250","name":"Schneckenbecken dysplasia"}
{"db":"OMIM","id":"121800","name":"Schnyder crystalline corneal dystrophy"}
{"db":"OMIM","id":"224750","name":"Schopf-Schulz-Passarge syndrome"}
{"db":"OMIM","id":"255800","name":"Schwartz Jampel syndrome type 1"}
{"db":"OMIM","id":"209920","name":"SCID due to absent class II HLA antigens"}
{"db":"OMIM","id":"269400","name":"Sclerocornea, autosomal recessive"}
{"db":"OMIM","id":"269500","name":"Sclerosteosis"}
{"db":"OMIM","id":"614305","name":"Sclerosteosis 2"}
{"db":"OMIM","id":"262890","name":"Scott syndrome"}
{"db":"OMIM","id":"269600","name":"Sea-blue histiocyte syndrome"}
{"db":"OMIM","id":"605249","name":"Sebastian syndrome"}
{"db":"OMIM","id":"610227","name":"Seborrhea-like dermatitis with psoriasiform elements"}
{"db":"OMIM","id":"210600","name":"Seckel syndrome 1"}
{"db":"OMIM","id":"606744","name":"Seckel syndrome 2"}
{"db":"OMIM","id":"613676","name":"Seckel syndrome 4"}
{"db":"OMIM","id":"613823","name":"Seckel syndrome 5"}
{"db":"OMIM","id":"614728","name":"Seckel syndrome 6"}
{"db":"OMIM","id":"614851","name":"Seckel syndrome 7"}
{"db":"OMIM","id":"615807","name":"Seckel syndrome 8"}
{"db":"OMIM","id":"275100","name":"Secondary hypothyroidism"}
{"db":"OMIM","id":"605407","name":"Segawa syndrome, autosomal recessive"}
{"db":"OMIM","id":"605751","name":"Seizures, benign familial infantile, 2"}
{"db":"OMIM","id":"266900","name":"Senior-Loken syndrome 1"}
{"db":"OMIM","id":"606996","name":"Senior-Loken syndrome 4"}
{"db":"OMIM","id":"609254","name":"Senior-Loken syndrome 5"}
{"db":"OMIM","id":"610189","name":"Senior-Loken syndrome 6"}
{"db":"OMIM","id":"613615","name":"Senior-Loken syndrome 7"}
{"db":"OMIM","id":"607459","name":"Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis"}
{"db":"OMIM","id":"612716","name":"Sepiapterin reductase deficiency"}
{"db":"OMIM","id":"182230","name":"Septo-optic dysplasia sequence"}
{"db":"OMIM","id":"611812","name":"Serkal syndrome"}
{"db":"OMIM","id":"612780","name":"SeSAME syndrome"}
{"db":"OMIM","id":"253700","name":"Severe autosomal recessive muscular dystrophy of childhood - North African type"}
{"db":"OMIM","id":"102700","name":"Severe combined immunodeficiency due to ADA deficiency"}
{"db":"OMIM","id":"611291","name":"Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation"}
{"db":"OMIM","id":"602450","name":"Severe combined immunodeficiency with sensitivity to ionizing radiation"}
{"db":"OMIM","id":"269840","name":"Severe combined immunodeficiency, atypical"}
{"db":"OMIM","id":"600802","name":"Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative"}
{"db":"OMIM","id":"608971","name":"Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive"}
{"db":"OMIM","id":"613107","name":"Severe congenital neutropenia 2, autosomal dominant"}
{"db":"OMIM","id":"610738","name":"Severe congenital neutropenia 3, autosomal recessive"}
{"db":"OMIM","id":"612541","name":"Severe congenital neutropenia 4, autosomal recessive"}
{"db":"OMIM","id":"615285","name":"Severe congenital neutropenia 5, autosomal recessive"}
{"db":"OMIM","id":"616022","name":"Severe congenital neutropenia 6, autosomal recessive"}
{"db":"OMIM","id":"202700","name":"Severe congenital neutropenia autosomal dominant"}
{"db":"OMIM","id":"300299","name":"Severe congenital neutropenia X-linked"}
{"db":"OMIM","id":"607208","name":"Severe myoclonic epilepsy in infancy"}
{"db":"OMIM","id":"310400","name":"Severe X-linked myotubular myopathy"}
{"db":"OMIM","id":"615328","name":"Shaheen syndrome"}
{"db":"OMIM","id":"609620","name":"Short QT syndrome 1"}
{"db":"OMIM","id":"609621","name":"Short QT syndrome 2"}
{"db":"OMIM","id":"609622","name":"Short QT syndrome 3"}
{"db":"OMIM","id":"614091","name":"Short rib polydactyly syndrome 5"}
{"db":"OMIM","id":"615503","name":"Short rib polydactyly syndrome 6"}
{"db":"OMIM","id":"263520","name":"Short rib-polydactyly syndrome, Majewski type"}
{"db":"OMIM","id":"615789","name":"Short stature with microcephaly and distinctive facies"}
{"db":"OMIM","id":"602471","name":"Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities"}
{"db":"OMIM","id":"604271","name":"Short stature, idiopathic, autosomal"}
{"db":"OMIM","id":"615925","name":"Short stature, idiopathic, autosomal"}
{"db":"OMIM","id":"300582","name":"Short stature, idiopathic, X-linked"}
{"db":"OMIM","id":"614813","name":"Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis"}
{"db":"OMIM","id":"614800","name":"Short stature, optic nerve atrophy, and pelger-huet anomaly"}
{"db":"OMIM","id":"269880","name":"SHORT syndrome"}
{"db":"OMIM","id":"615630","name":"Short-rib thoracic dysplasia 10 with or without polydactyly"}
{"db":"OMIM","id":"615633","name":"Short-rib thoracic dysplasia 11 with or without polydactyly"}
{"db":"OMIM","id":"613091","name":"Short-rib thoracic dysplasia 3 with or without polydactyly"}
{"db":"OMIM","id":"612975","name":"Short-sleeper"}
{"db":"OMIM","id":"192430","name":"Shprintzen syndrome"}
{"db":"OMIM","id":"182212","name":"Shprintzen-Goldberg syndrome"}
{"db":"OMIM","id":"260400","name":"Shwachman syndrome"}
{"db":"OMIM","id":"269920","name":"Sialic acid storage disease, severe infantile type"}
{"db":"OMIM","id":"256550","name":"Sialidosis, type II"}
{"db":"OMIM","id":"269921","name":"Sialuria"}
{"db":"OMIM","id":"608567","name":"Sick sinus syndrome 1, autosomal recessive"}
{"db":"OMIM","id":"163800","name":"Sick sinus syndrome 2, autosomal dominant"}
{"db":"OMIM","id":"300263","name":"Siderius X-linked mental retardation syndrome"}
{"db":"OMIM","id":"616084","name":"Sideroblastic anemia with b-cell immunodeficiency, periodic fevers, and developmental delay"}
{"db":"OMIM","id":"312870","name":"Simpson-Golabi-Behmel syndrome"}
{"db":"OMIM","id":"300209","name":"Simpson-Golabi-Behmel syndrome, type 2"}
{"db":"OMIM","id":"147250","name":"Single upper central incisor"}
{"db":"OMIM","id":"614896","name":"Sinoatrial node dysfunction and deafness"}
{"db":"OMIM","id":"210250","name":"Sitosterolemia"}
{"db":"OMIM","id":"270200","name":"Sj gren-Larsson syndrome"}
{"db":"OMIM","id":"612447","name":"Skeletal defects, genital hypoplasia, and mental retardation"}
{"db":"OMIM","id":"607655","name":"Skin fragility woolly hair syndrome"}
{"db":"OMIM","id":"227220","name":"Skin/hair/eye pigmentation, variation in, 1"}
{"db":"OMIM","id":"612271","name":"Skin/hair/eye pigmentation, variation in, 11"}
{"db":"OMIM","id":"113750","name":"Skin/hair/eye pigmentation, variation in, 4"}
{"db":"OMIM","id":"227240","name":"Skin/hair/eye pigmentation, variation in, 5"}
{"db":"OMIM","id":"210750","name":"Skin/hair/eye pigmentation, variation in, 6"}
{"db":"OMIM","id":"608236","name":"Slowed nerve conduction velocity, autosomal dominant"}
{"db":"OMIM","id":"607326","name":"Smith McCort dysplasia"}
{"db":"OMIM","id":"615222","name":"Smith McCort dysplasia 2"}
{"db":"OMIM","id":"270400","name":"Smith-Lemli-Opitz syndrome"}
{"db":"OMIM","id":"182290","name":"Smith-Magenis syndrome"}
{"db":"OMIM","id":"193230","name":"Snowflake vitreoretinal degeneration"}
{"db":"OMIM","id":"309583","name":"Snyder Robinson syndrome"}
{"db":"OMIM","id":"102200","name":"Somatotroph adenoma"}
{"db":"OMIM","id":"136900","name":"Sorsby fundus dystrophy"}
{"db":"OMIM","id":"117550","name":"Sotos syndrome 1"}
{"db":"OMIM","id":"614753","name":"Sotos syndrome 2"}
{"db":"OMIM","id":"614487","name":"Spastic ataxia 5, autosomal recessive"}
{"db":"OMIM","id":"270550","name":"Spastic ataxia Charlevoix-Saguenay type"}
{"db":"OMIM","id":"303350","name":"Spastic paraplegia 1"}
{"db":"OMIM","id":"604187","name":"Spastic paraplegia 10"}
{"db":"OMIM","id":"604360","name":"Spastic paraplegia 11, autosomal recessive"}
{"db":"OMIM","id":"604805","name":"Spastic paraplegia 12"}
{"db":"OMIM","id":"605280","name":"Spastic paraplegia 13"}
{"db":"OMIM","id":"270700","name":"Spastic paraplegia 15"}
{"db":"OMIM","id":"611225","name":"Spastic paraplegia 18"}
{"db":"OMIM","id":"312920","name":"Spastic paraplegia 2"}
{"db":"OMIM","id":"609195","name":"Spastic paraplegia 26"}
{"db":"OMIM","id":"609340","name":"Spastic paraplegia 28, autosomal recessive"}
{"db":"OMIM","id":"182600","name":"Spastic paraplegia 3"}
{"db":"OMIM","id":"610357","name":"Spastic paraplegia 30, autosomal recessive"}
{"db":"OMIM","id":"610250","name":"Spastic paraplegia 31, autosomal dominant"}
{"db":"OMIM","id":"610244","name":"Spastic paraplegia 33, autosomal dominant"}
{"db":"OMIM","id":"612319","name":"Spastic paraplegia 35"}
{"db":"OMIM","id":"612020","name":"Spastic paraplegia 39"}
{"db":"OMIM","id":"182601","name":"Spastic paraplegia 4, autosomal dominant"}
{"db":"OMIM","id":"612539","name":"Spastic paraplegia 42, autosomal dominant"}
{"db":"OMIM","id":"615043","name":"Spastic paraplegia 43, autosomal recessive"}
{"db":"OMIM","id":"613206","name":"Spastic paraplegia 44, autosomal recessive"}
{"db":"OMIM","id":"613162","name":"Spastic paraplegia 45, autosomal recessive"}
{"db":"OMIM","id":"614409","name":"Spastic paraplegia 46, autosomal recessive"}
{"db":"OMIM","id":"613647","name":"Spastic paraplegia 48, autosomal recessive"}
{"db":"OMIM","id":"615031","name":"Spastic paraplegia 49, autosomal recessive"}
{"db":"OMIM","id":"614898","name":"Spastic paraplegia 53, autosomal recessive"}
{"db":"OMIM","id":"615033","name":"Spastic paraplegia 54, autosomal recessive"}
{"db":"OMIM","id":"615035","name":"Spastic paraplegia 55, autosomal recessive"}
{"db":"OMIM","id":"615030","name":"Spastic paraplegia 56, autosomal recessive"}
{"db":"OMIM","id":"615658","name":"Spastic paraplegia 57, autosomal recessive"}
{"db":"OMIM","id":"270800","name":"Spastic paraplegia 5A"}
{"db":"OMIM","id":"600363","name":"Spastic paraplegia 6"}
{"db":"OMIM","id":"615683","name":"Spastic paraplegia 64, autosomal recessive"}
{"db":"OMIM","id":"607259","name":"Spastic paraplegia 7"}
{"db":"OMIM","id":"615625","name":"Spastic paraplegia 72, autosomal recessive"}
{"db":"OMIM","id":"603563","name":"Spastic paraplegia 8"}
{"db":"OMIM","id":"245480","name":"Specific granule deficiency"}
{"db":"OMIM","id":"615432","name":"Specific language impairment 5"}
{"db":"OMIM","id":"602081","name":"Speech-language disorder 1"}
{"db":"OMIM","id":"270960","name":"Spermatogenesis arrest"}
{"db":"OMIM","id":"615081","name":"Spermatogenic failure 11"}
{"db":"OMIM","id":"615413","name":"Spermatogenic failure 12"}
{"db":"OMIM","id":"615841","name":"Spermatogenic failure 13"}
{"db":"OMIM","id":"615842","name":"Spermatogenic failure 14"}
{"db":"OMIM","id":"606766","name":"Spermatogenic failure 3"}
{"db":"OMIM","id":"613957","name":"Spermatogenic failure 8"}
{"db":"OMIM","id":"613958","name":"Spermatogenic failure 9"}
{"db":"OMIM","id":"415000","name":"Spermatogenic failure, Y-linked 2"}
{"db":"OMIM","id":"182900","name":"Spherocytosis type 1"}
{"db":"OMIM","id":"182870","name":"Spherocytosis type 2"}
{"db":"OMIM","id":"270970","name":"Spherocytosis type 3"}
{"db":"OMIM","id":"612653","name":"Spherocytosis type 4"}
{"db":"OMIM","id":"612690","name":"Spherocytosis type 5"}
{"db":"OMIM","id":"182920","name":"Spheroid body myopathy"}
{"db":"OMIM","id":"249900","name":"Sphingolipid activator protein 1 deficiency"}
{"db":"OMIM","id":"605041","name":"Spiegler-Brooke syndrome"}
{"db":"OMIM","id":"271150","name":"Spinal muscular atrophy type 4"}
{"db":"OMIM","id":"604320","name":"Spinal muscular atrophy with respiratory distress 1"}
{"db":"OMIM","id":"614881","name":"Spinal muscular atrophy, distal, autosomal recessive, 5"}
{"db":"OMIM","id":"615048","name":"Spinal muscular atrophy, jokela type"}
{"db":"OMIM","id":"158600","name":"Spinal muscular atrophy, lower extremity predominant 1, autosomal dominant"}
{"db":"OMIM","id":"615290","name":"Spinal muscular atrophy, lower extremity predominant 2, autosomal dominant"}
{"db":"OMIM","id":"253550","name":"Spinal muscular atrophy, type II"}
{"db":"OMIM","id":"164400","name":"Spinocerebellar ataxia 1"}
{"db":"OMIM","id":"604432","name":"Spinocerebellar ataxia 11"}
{"db":"OMIM","id":"604326","name":"Spinocerebellar ataxia 12"}
{"db":"OMIM","id":"605259","name":"Spinocerebellar ataxia 13"}
{"db":"OMIM","id":"605361","name":"Spinocerebellar ataxia 14"}
{"db":"OMIM","id":"606658","name":"Spinocerebellar ataxia 15"}
{"db":"OMIM","id":"607136","name":"Spinocerebellar ataxia 17"}
{"db":"OMIM","id":"607346","name":"Spinocerebellar ataxia 19"}
{"db":"OMIM","id":"183090","name":"Spinocerebellar ataxia 2"}
{"db":"OMIM","id":"607454","name":"Spinocerebellar ataxia 21"}
{"db":"OMIM","id":"610245","name":"Spinocerebellar ataxia 23"}
{"db":"OMIM","id":"609306","name":"Spinocerebellar ataxia 26"}
{"db":"OMIM","id":"609307","name":"Spinocerebellar ataxia 27"}
{"db":"OMIM","id":"610246","name":"Spinocerebellar ataxia 28"}
{"db":"OMIM","id":"117360","name":"Spinocerebellar ataxia 29"}
{"db":"OMIM","id":"117210","name":"Spinocerebellar ataxia 31"}
{"db":"OMIM","id":"613908","name":"Spinocerebellar ataxia 35"}
{"db":"OMIM","id":"614153","name":"Spinocerebellar ataxia 36"}
{"db":"OMIM","id":"615957","name":"Spinocerebellar ataxia 38"}
{"db":"OMIM","id":"616053","name":"Spinocerebellar ataxia 40"}
{"db":"OMIM","id":"600224","name":"Spinocerebellar ataxia 5"}
{"db":"OMIM","id":"183086","name":"Spinocerebellar ataxia 6"}
{"db":"OMIM","id":"164500","name":"Spinocerebellar ataxia 7"}
{"db":"OMIM","id":"608768","name":"Spinocerebellar ataxia 8"}
{"db":"OMIM","id":"606002","name":"Spinocerebellar ataxia autosomal recessive 1"}
{"db":"OMIM","id":"606937","name":"Spinocerebellar ataxia autosomal recessive 5"}
{"db":"OMIM","id":"607250","name":"Spinocerebellar ataxia autosomal recessive with axonal neuropathy"}
{"db":"OMIM","id":"613728","name":"Spinocerebellar ataxia, autosomal recessive 10"}
{"db":"OMIM","id":"614229","name":"Spinocerebellar ataxia, autosomal recessive 11"}
{"db":"OMIM","id":"614322","name":"Spinocerebellar ataxia, autosomal recessive 12"}
{"db":"OMIM","id":"614831","name":"Spinocerebellar ataxia, autosomal recessive 13"}
{"db":"OMIM","id":"615386","name":"Spinocerebellar ataxia, autosomal recessive 14"}
{"db":"OMIM","id":"615705","name":"Spinocerebellar ataxia, autosomal recessive 15"}
{"db":"OMIM","id":"615768","name":"Spinocerebellar ataxia, autosomal recessive 16"}
{"db":"OMIM","id":"616127","name":"Spinocerebellar ataxia, autosomal recessive 17"}
{"db":"OMIM","id":"616204","name":"Spinocerebellar ataxia, autosomal recessive 18"}
{"db":"OMIM","id":"609270","name":"Spinocerebellar ataxia, autosomal recessive 7"}
{"db":"OMIM","id":"610743","name":"Spinocerebellar ataxia, autosomal recessive 8"}
{"db":"OMIM","id":"302500","name":"Spinocerebellar ataxia, X-linked 1"}
{"db":"OMIM","id":"271400","name":"Splenic hypoplasia"}
{"db":"OMIM","id":"183600","name":"Split-hand/foot malformation 1"}
{"db":"OMIM","id":"220600","name":"Split-hand/foot malformation 1 with sensorineural hearing loss"}
{"db":"OMIM","id":"605289","name":"Split-hand/foot malformation 4"}
{"db":"OMIM","id":"225300","name":"Split-hand/foot malformation 6"}
{"db":"OMIM","id":"613330","name":"Spondylo-megaepiphyseal-metaphyseal dysplasia"}
{"db":"OMIM","id":"272460","name":"Spondylocarpotarsal synostosis syndrome"}
{"db":"OMIM","id":"612350","name":"Spondylocheirodysplasia, Ehlers-Danlos syndrome-like"}
{"db":"OMIM","id":"608681","name":"Spondylocostal dysostosis 2"}
{"db":"OMIM","id":"609813","name":"Spondylocostal dysostosis 3"}
{"db":"OMIM","id":"122600","name":"Spondylocostal dysostosis 4"}
{"db":"OMIM","id":"607944","name":"Spondyloenchondrodysplasia with immune dysregulation"}
{"db":"OMIM","id":"184250","name":"Spondyloepimetaphyseal dysplasia Strudwick type"}
{"db":"OMIM","id":"271640","name":"Spondyloepimetaphyseal dysplasia with joint laxity"}
{"db":"OMIM","id":"603546","name":"Spondyloepimetaphyseal dysplasia with multiple dislocations"}
{"db":"OMIM","id":"612813","name":"Spondyloepimetaphyseal dysplasia, Aggrecan type"}
{"db":"OMIM","id":"602111","name":"Spondyloepimetaphyseal dysplasia, Missouri type"}
{"db":"OMIM","id":"612847","name":"Spondyloepimetaphyseal dysplasia, pakistani type"}
{"db":"OMIM","id":"183900","name":"Spondyloepiphyseal dysplasia congenita"}
{"db":"OMIM","id":"184095","name":"Spondyloepiphyseal dysplasia Maroteaux type"}
{"db":"OMIM","id":"313400","name":"Spondyloepiphyseal dysplasia tarda"}
{"db":"OMIM","id":"143095","name":"Spondyloepiphyseal dysplasia with congenital joint dislocations"}
{"db":"OMIM","id":"608361","name":"Spondyloepiphyseal dysplasia, kimberley type"}
{"db":"OMIM","id":"271665","name":"Spondylometaepiphyseal dysplasia short limb-hand type"}
{"db":"OMIM","id":"250220","name":"Spondylometaphyseal dysplasia Sedaghatian type"}
{"db":"OMIM","id":"608940","name":"Spondylometaphyseal dysplasia with cone-rod dystrophy"}
{"db":"OMIM","id":"184252","name":"Spondylometaphyseal dysplasia, Kozlowski type"}
{"db":"OMIM","id":"271700","name":"Spondyloperipheral dysplasia"}
{"db":"OMIM","id":"606688","name":"Spongiform encephalopathy with neuropsychiatric features"}
{"db":"OMIM","id":"271900","name":"Spongy degeneration of central nervous system"}
{"db":"OMIM","id":"275355","name":"Squamous cell carcinoma of the head and neck"}
{"db":"OMIM","id":"184460","name":"Stapes ankylosis with broad thumb and toes"}
{"db":"OMIM","id":"300707","name":"STAR syndrome"}
{"db":"OMIM","id":"248200","name":"Stargardt disease 1"}
{"db":"OMIM","id":"600110","name":"Stargardt Disease 3"}
{"db":"OMIM","id":"603786","name":"Stargardt disease 4"}
{"db":"OMIM","id":"184500","name":"Steatocystoma multiplex"}
{"db":"OMIM","id":"615155","name":"Steel syndrome"}
{"db":"OMIM","id":"160900","name":"Steinert myotonic dystrophy syndrome"}
{"db":"OMIM","id":"108300","name":"Stickler syndrome type 1"}
{"db":"OMIM","id":"604841","name":"Stickler syndrome, type 2"}
{"db":"OMIM","id":"184840","name":"Stickler syndrome, type 3"}
{"db":"OMIM","id":"614134","name":"Stickler syndrome, type 4"}
{"db":"OMIM","id":"614284","name":"Stickler syndrome, type 5"}
{"db":"OMIM","id":"609508","name":"STICKLER SYNDROME, TYPE I, NONSYNDROMIC OCULAR"}
{"db":"OMIM","id":"184900","name":"Stiff skin syndrome"}
{"db":"OMIM","id":"615934","name":"Sting-associated vasculopathy, infantile-onset"}
{"db":"OMIM","id":"300434","name":"Stocco dos Santos syndrome"}
{"db":"OMIM","id":"185070","name":"Stormorken syndrome"}
{"db":"OMIM","id":"609161","name":"Striatal degeneration, autosomal dominant"}
{"db":"OMIM","id":"613710","name":"Striatal necrosis, bilateral, and progressive polyneuropathy"}
{"db":"OMIM","id":"271930","name":"Striatonigral degeneration infantile"}
{"db":"OMIM","id":"500003","name":"Striatonigral degeneration, infantile, mitochondrial"}
{"db":"OMIM","id":"601559","name":"Stuve-Wiedemann syndrome"}
{"db":"OMIM","id":"231000","name":"Subacute neuronopathic Gaucher's disease"}
{"db":"OMIM","id":"271980","name":"Succinate-semialdehyde dehydrogenase deficiency"}
{"db":"OMIM","id":"245050","name":"Succinyl-CoA acetoacetate transferase deficiency"}
{"db":"OMIM","id":"222900","name":"Sucrase-isomaltase deficiency"}
{"db":"OMIM","id":"272120","name":"Sudden infant death syndrome"}
{"db":"OMIM","id":"608800","name":"Sudden infant death with dysgenesis of the testes syndrome"}
{"db":"OMIM","id":"185500","name":"Supravalvar aortic stenosis"}
{"db":"OMIM","id":"265120","name":"Surfactant metabolism dysfunction, pulmonary, 1"}
{"db":"OMIM","id":"610913","name":"Surfactant metabolism dysfunction, pulmonary, 2"}
{"db":"OMIM","id":"610921","name":"Surfactant metabolism dysfunction, pulmonary, 3"}
{"db":"OMIM","id":"300770","name":"Surfactant metabolism dysfunction, pulmonary, 4"}
{"db":"OMIM","id":"614370","name":"Surfactant metabolism dysfunction, pulmonary, 5"}
{"db":"OMIM","id":"127400","name":"Symmetrical dyschromatosis of extremities"}
{"db":"OMIM","id":"186500","name":"Symphalangism-brachydactyly syndrome"}
{"db":"OMIM","id":"212780","name":"Syndactyly Cenani Lenz type"}
{"db":"OMIM","id":"186100","name":"Syndactyly type 3"}
{"db":"OMIM","id":"186300","name":"Syndactyly type 5"}
{"db":"OMIM","id":"609432","name":"Syndactyly type 9"}
{"db":"OMIM","id":"186200","name":"SYNDACTYLY, TYPE IV"}
{"db":"OMIM","id":"300860","name":"Syndromic mental retardation, Nascimento type, X-linked"}
{"db":"OMIM","id":"186000","name":"Synpolydactyly 1"}
{"db":"OMIM","id":"614420","name":"Systemic lupus erythematosus 16"}
{"db":"OMIM","id":"601705","name":"T-cell immunodeficiency, congenital alopecia and nail dystrophy"}
{"db":"OMIM","id":"614868","name":"T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations"}
{"db":"OMIM","id":"615387","name":"T-cell receptor alpha/beta deficiency"}
{"db":"OMIM","id":"119800","name":"Talipes equinovarus"}
{"db":"OMIM","id":"205400","name":"Tangier disease"}
{"db":"OMIM","id":"311900","name":"TARP syndrome"}
{"db":"OMIM","id":"186570","name":"Tarsal carpal coalition syndrome"}
{"db":"OMIM","id":"615879","name":"Tatton-Brown-rahman syndrome"}
{"db":"OMIM","id":"272800","name":"Tay-Sachs disease"}
{"db":"OMIM","id":"272750","name":"Tay-Sachs disease, variant AB"}
{"db":"OMIM","id":"615506","name":"Telangiectasia, hereditary hemorrhagic, type 5"}
{"db":"OMIM","id":"611816","name":"Temple-Baraitser syndrome"}
{"db":"OMIM","id":"605282","name":"Temtamy preaxial brachydactyly syndrome"}
{"db":"OMIM","id":"218340","name":"Temtamy syndrome"}
{"db":"OMIM","id":"616260","name":"TENORIO SYNDROME"}
{"db":"OMIM","id":"300244","name":"Terminal osseous dysplasia"}
{"db":"OMIM","id":"615542","name":"Testicular anomalies with or without congenital heart disease"}
{"db":"OMIM","id":"264300","name":"Testosterone 17-beta-dehydrogenase deficiency"}
{"db":"OMIM","id":"273395","name":"Tetraamelia, autosomal recessive"}
{"db":"OMIM","id":"187500","name":"Tetralogy of Fallot"}
{"db":"OMIM","id":"187600","name":"Thanatophoric dysplasia type 1"}
{"db":"OMIM","id":"614458","name":"THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE)"}
{"db":"OMIM","id":"602082","name":"Thiel-Behnke corneal dystrophy"}
{"db":"OMIM","id":"610460","name":"Thiopurine methyltransferase deficiency"}
{"db":"OMIM","id":"273750","name":"Three M syndrome 1"}
{"db":"OMIM","id":"612921","name":"Three M syndrome 2"}
{"db":"OMIM","id":"614205","name":"Three M syndrome 3"}
{"db":"OMIM","id":"614521","name":"Thrombocythemia 3"}
{"db":"OMIM","id":"188000","name":"Thrombocytopenia 2"}
{"db":"OMIM","id":"612004","name":"Thrombocytopenia 4"}
{"db":"OMIM","id":"616216","name":"Thrombocytopenia 5"}
{"db":"OMIM","id":"314050","name":"Thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis"}
{"db":"OMIM","id":"313900","name":"Thrombocytopenia, X-linked"}
{"db":"OMIM","id":"601977","name":"Thrombocytosis, benign familial microcytic"}
{"db":"OMIM","id":"188050","name":"Thrombophilia"}
{"db":"OMIM","id":"188055","name":"Thrombophilia due to activated protein C resistance"}
{"db":"OMIM","id":"614514","name":"Thrombophilia due to protein S deficiency, autosomal recessive"}
{"db":"OMIM","id":"614486","name":"Thrombophilia due to thrombomodulin defect"}
{"db":"OMIM","id":"176860","name":"Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant"}
{"db":"OMIM","id":"612304","name":"Thrombophilia, hereditary, due to protein C deficiency, autosomal recessive"}
{"db":"OMIM","id":"613116","name":"Thrombophilia, histidine-rich glycoprotein-related"}
{"db":"OMIM","id":"300807","name":"Thrombophilia, X-linked, due to factor IX defect"}
{"db":"OMIM","id":"274900","name":"Thyroglobulin synthesis defect"}
{"db":"OMIM","id":"218700","name":"Thyroid agenesis"}
{"db":"OMIM","id":"188470","name":"Thyroid cancer, follicular"}
{"db":"OMIM","id":"274400","name":"Thyroid dyshormonogenesis 1"}
{"db":"OMIM","id":"607200","name":"Thyroid dyshormonogenesis 6"}
{"db":"OMIM","id":"609698","name":"Thyroid hormone metabolism, abnormal"}
{"db":"OMIM","id":"188570","name":"Thyroid hormone resistance, generalized, autosomal dominant"}
{"db":"OMIM","id":"274300","name":"Thyroid hormone resistance, generalized, autosomal recessive"}
{"db":"OMIM","id":"145650","name":"Thyroid hormone resistance, selective pituitary"}
{"db":"OMIM","id":"188580","name":"Thyrotoxic periodic paralysis"}
{"db":"OMIM","id":"188740","name":"Tibia, hypoplasia of, with polydactyly"}
{"db":"OMIM","id":"103500","name":"Tietz syndrome"}
{"db":"OMIM","id":"601005","name":"Timothy syndrome"}
{"db":"OMIM","id":"142680","name":"TNF receptor-associated periodic fever syndrome (TRAPS)"}
{"db":"OMIM","id":"604625","name":"Tooth agenesis, selective, 3"}
{"db":"OMIM","id":"150400","name":"Tooth agenesis, selective, 4"}
{"db":"OMIM","id":"613097","name":"Tooth agenesis, selective, 6"}
{"db":"OMIM","id":"313500","name":"Tooth agenesis, selective, X-linked, 1"}
{"db":"OMIM","id":"604379","name":"Total Hypotrichosis, Mari type"}
{"db":"OMIM","id":"137580","name":"Tourette Syndrome"}
{"db":"OMIM","id":"107480","name":"Townes syndrome"}
{"db":"OMIM","id":"275350","name":"Transcobalamin II deficiency"}
{"db":"OMIM","id":"131705","name":"Transient bullous dermolysis of the newborn"}
{"db":"OMIM","id":"601410","name":"Transient neonatal diabetes mellitus 1"}
{"db":"OMIM","id":"610374","name":"Transient neonatal diabetes mellitus 2"}
{"db":"OMIM","id":"610582","name":"Transient neonatal diabetes mellitus 3"}
{"db":"OMIM","id":"608808","name":"Transposition of great arteries"}
{"db":"OMIM","id":"613853","name":"Transposition of the great arteries, dextro-looped 2"}
{"db":"OMIM","id":"154500","name":"Treacher collins syndrome 1"}
{"db":"OMIM","id":"613717","name":"Treacher collins syndrome 2"}
{"db":"OMIM","id":"614782","name":"Tremor, hereditary essential, 4"}
{"db":"OMIM","id":"190320","name":"Tricho-dento-osseous syndrome"}
{"db":"OMIM","id":"222470","name":"Trichohepatoenteric syndrome"}
{"db":"OMIM","id":"614602","name":"Trichohepatoenteric syndrome 2"}
{"db":"OMIM","id":"190330","name":"Trichomegaly"}
{"db":"OMIM","id":"190350","name":"Trichorhinophalangeal dysplasia type I"}
{"db":"OMIM","id":"190351","name":"Trichorhinophalangeal syndrome type 3"}
{"db":"OMIM","id":"234050","name":"Trichothiodystrophy, nonphotosensitive 1"}
{"db":"OMIM","id":"613229","name":"Trichotillomania"}
{"db":"OMIM","id":"275630","name":"Triglyceride storage disease with ichthyosis"}
{"db":"OMIM","id":"614485","name":"Trigonocephaly 2"}
{"db":"OMIM","id":"602079","name":"Trimethylaminuria"}
{"db":"OMIM","id":"615512","name":"Triosephosphate isomerase deficiency"}
{"db":"OMIM","id":"190900","name":"Tritanopia"}
{"db":"OMIM","id":"608189","name":"Tropical calcific pancreatitis"}
{"db":"OMIM","id":"275900","name":"Troyer syndrome"}
{"db":"OMIM","id":"191100","name":"Tuberous sclerosis 1"}
{"db":"OMIM","id":"613254","name":"Tuberous sclerosis 2"}
{"db":"OMIM","id":"614327","name":"Tumor predisposition syndrome"}
{"db":"OMIM","id":"211900","name":"Tumoral calcinosis, familial, hyperphosphatemic"}
{"db":"OMIM","id":"610455","name":"Tumoral calcinosis, familial, normophosphatemic"}
{"db":"OMIM","id":"276300","name":"Turcot syndrome"}
{"db":"OMIM","id":"203100","name":"Tyrosinase-negative oculocutaneous albinism"}
{"db":"OMIM","id":"203200","name":"Tyrosinase-positive oculocutaneous albinism"}
{"db":"OMIM","id":"611521","name":"Tyrosine kinase 2 deficiency"}
{"db":"OMIM","id":"276600","name":"Tyrosinemia type 2"}
{"db":"OMIM","id":"276700","name":"Tyrosinemia type I"}
{"db":"OMIM","id":"230350","name":"UDPglucose-4-epimerase deficiency"}
{"db":"OMIM","id":"276820","name":"Ulna and fibula absence of with severe limb deficiency"}
{"db":"OMIM","id":"181450","name":"Ulnar-mammary syndrome"}
{"db":"OMIM","id":"608149","name":"Uniparental disomy, paternal, chromosome 14"}
{"db":"OMIM","id":"254800","name":"Unverricht-Lundborg syndrome"}
{"db":"OMIM","id":"274150","name":"Upshaw-Schulman syndrome"}
{"db":"OMIM","id":"266120","name":"Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to"}
{"db":"OMIM","id":"276880","name":"Urocanate hydratase deficiency"}
{"db":"OMIM","id":"615112","name":"Urofacial syndrome 2"}
{"db":"OMIM","id":"276900","name":"Usher syndrome, type 1"}
{"db":"OMIM","id":"276904","name":"Usher syndrome, type 1C"}
{"db":"OMIM","id":"601067","name":"Usher syndrome, type 1D"}
{"db":"OMIM","id":"602083","name":"Usher syndrome, type 1F"}
{"db":"OMIM","id":"606943","name":"Usher syndrome, type 1G"}
{"db":"OMIM","id":"614869","name":"Usher syndrome, type 1J"}
{"db":"OMIM","id":"276901","name":"Usher syndrome, type 2A"}
{"db":"OMIM","id":"605472","name":"Usher syndrome, type 2C"}
{"db":"OMIM","id":"611383","name":"Usher syndrome, type 2D"}
{"db":"OMIM","id":"276902","name":"Usher syndrome, type 3"}
{"db":"OMIM","id":"614504","name":"Usher syndrome, type 3B"}
{"db":"OMIM","id":"600630","name":"UV-sensitive syndrome"}
{"db":"OMIM","id":"614621","name":"UV-sensitive syndrome 2"}
{"db":"OMIM","id":"614640","name":"UV-sensitive syndrome 3"}
{"db":"OMIM","id":"314390","name":"VACTERL association with hydrocephaly, X-linked"}
{"db":"OMIM","id":"119300","name":"Van der Woude syndrome"}
{"db":"OMIM","id":"606713","name":"Van der Woude syndrome 2"}
{"db":"OMIM","id":"615546","name":"Van Maldergem syndrome 2"}
{"db":"OMIM","id":"601390","name":"Van Maldergem Wetzburger Verloes syndrome"}
{"db":"OMIM","id":"176200","name":"Variegate porphyria"}
{"db":"OMIM","id":"192315","name":"Vasculopathy, retinal, with cerebral leukodystrophy"}
{"db":"OMIM","id":"612956","name":"Ventricular fibrillation, paroxysmal familial, 2"}
{"db":"OMIM","id":"614429","name":"Ventricular septal defect 1"}
{"db":"OMIM","id":"614431","name":"Ventricular septal defect 2"}
{"db":"OMIM","id":"614432","name":"Ventricular septal defect 3"}
{"db":"OMIM","id":"611938","name":"Ventricular tachycardia, catecholaminergic polymorphic, 2"}
{"db":"OMIM","id":"614916","name":"Ventricular tachycardia, catecholaminergic polymorphic, 4"}
{"db":"OMIM","id":"615441","name":"Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness"}
{"db":"OMIM","id":"219730","name":"Ventriculomegaly with cystic kidney disease"}
{"db":"OMIM","id":"615583","name":"Verheij syndrome"}
{"db":"OMIM","id":"192950","name":"Vertical talus, congenital"}
{"db":"OMIM","id":"201475","name":"Very long chain acyl-CoA dehydrogenase deficiency"}
{"db":"OMIM","id":"610878","name":"Vesicoureteral reflux 2"}
{"db":"OMIM","id":"613674","name":"Vesicoureteral reflux 3"}
{"db":"OMIM","id":"615963","name":"Vesicoureteral reflux 8"}
{"db":"OMIM","id":"270100","name":"Visceral heterotaxy 5, autosomal"}
{"db":"OMIM","id":"155310","name":"Visceral myopathy"}
{"db":"OMIM","id":"249210","name":"Visceral myopathy"}
{"db":"OMIM","id":"600081","name":"Vitamin d hydroxylation-deficient rickets, type 1b"}
{"db":"OMIM","id":"264700","name":"Vitamin D-dependent rickets, type 1"}
{"db":"OMIM","id":"277440","name":"Vitamin D-dependent rickets, type 2"}
{"db":"OMIM","id":"277450","name":"Vitamin k-dependent clotting factors, combined deficiency of, 1"}
{"db":"OMIM","id":"607473","name":"Vitamin k-dependent clotting factors, combined deficiency of, 2"}
{"db":"OMIM","id":"153700","name":"Vitelliform dystrophy"}
{"db":"OMIM","id":"193220","name":"Vitreoretinochoroidopathy dominant"}
{"db":"OMIM","id":"193235","name":"Vitreoretinopathy, neovascular inflammatory"}
{"db":"OMIM","id":"604117","name":"Vohwinkel syndrome, variant form"}
{"db":"OMIM","id":"193300","name":"Von Hippel-Lindau syndrome"}
{"db":"OMIM","id":"193400","name":"von Willebrand disease type 1"}
{"db":"OMIM","id":"613554","name":"von Willebrand disease type 2"}
{"db":"OMIM","id":"193500","name":"Waardenburg syndrome type 1"}
{"db":"OMIM","id":"193510","name":"Waardenburg syndrome type 2A"}
{"db":"OMIM","id":"608890","name":"Waardenburg syndrome type 2D"}
{"db":"OMIM","id":"277580","name":"Waardenburg syndrome type 4A"}
{"db":"OMIM","id":"613265","name":"Waardenburg syndrome type 4B"}
{"db":"OMIM","id":"613266","name":"Waardenburg syndrome type 4C"}
{"db":"OMIM","id":"143200","name":"Wagner syndrome"}
{"db":"OMIM","id":"236670","name":"Walker-Warburg congenital muscular dystrophy"}
{"db":"OMIM","id":"600118","name":"Warburg micro syndrome 1"}
{"db":"OMIM","id":"614225","name":"Warburg micro syndrome 2"}
{"db":"OMIM","id":"614222","name":"Warburg micro syndrome 3"}
{"db":"OMIM","id":"615663","name":"Warburg micro syndrome 4"}
{"db":"OMIM","id":"122700","name":"Warfarin response"}
{"db":"OMIM","id":"613398","name":"Warsaw breakage syndrome"}
{"db":"OMIM","id":"193670","name":"Warts, hypogammaglobulinemia, infections, and myelokathexis"}
{"db":"OMIM","id":"277590","name":"Weaver syndrome"}
{"db":"OMIM","id":"277600","name":"Weill-Marchesani syndrome 1"}
{"db":"OMIM","id":"608328","name":"Weill-Marchesani syndrome 2"}
{"db":"OMIM","id":"614819","name":"Weill-Marchesani syndrome 3"}
{"db":"OMIM","id":"613195","name":"Weill-Marchesani-like syndrome"}
{"db":"OMIM","id":"277610","name":"Weissenbacher-Zweymuller syndrome"}
{"db":"OMIM","id":"253300","name":"Werdnig-Hoffmann disease"}
{"db":"OMIM","id":"277700","name":"Werner syndrome"}
{"db":"OMIM","id":"600965","name":"WFS1-Related Disorders"}
{"db":"OMIM","id":"615785","name":"White sponge nevus 2"}
{"db":"OMIM","id":"193900","name":"White sponge nevus of cannon"}
{"db":"OMIM","id":"314580","name":"Wieacker syndrome"}
{"db":"OMIM","id":"194070","name":"Wilms tumor 1"}
{"db":"OMIM","id":"194071","name":"Wilms tumor 2"}
{"db":"OMIM","id":"601583","name":"Wilms tumor and radial bilateral aplasia"}
{"db":"OMIM","id":"277900","name":"Wilson's disease"}
{"db":"OMIM","id":"309585","name":"Wilson-Turner X-linked mental retardation syndrome"}
{"db":"OMIM","id":"301000","name":"Wiskott-Aldrich syndrome"}
{"db":"OMIM","id":"277970","name":"Wiskott-Aldrich syndrome"}
{"db":"OMIM","id":"614493","name":"Wiskott-Aldrich syndrome 2"}
{"db":"OMIM","id":"226980","name":"Wolcott-Rallison dysplasia"}
{"db":"OMIM","id":"194200","name":"Wolff-Parkinson-White pattern"}
{"db":"OMIM","id":"604928","name":"Wolfram syndrome 2"}
{"db":"OMIM","id":"614296","name":"Wolfram-like syndrome, autosomal dominant"}
{"db":"OMIM","id":"194300","name":"Woolly hair, autosomal dominant"}
{"db":"OMIM","id":"278150","name":"Woolly hair, autosomal recessive 1"}
{"db":"OMIM","id":"144750","name":"Worth disease"}
{"db":"OMIM","id":"278250","name":"Wrinkly skin syndrome"}
{"db":"OMIM","id":"300087","name":"X inactivation, familial skewed, 1"}
{"db":"OMIM","id":"300755","name":"X-linked agammaglobulinemia"}
{"db":"OMIM","id":"307200","name":"X-linked agammaglobulinemia with growth hormone deficiency"}
{"db":"OMIM","id":"302800","name":"X-linked hereditary motor and sensory neuropathy"}
{"db":"OMIM","id":"307000","name":"X-linked hydrocephalus syndrome"}
{"db":"OMIM","id":"308100","name":"X-linked ichthyosis with steryl-sulfatase deficiency"}
{"db":"OMIM","id":"300849","name":"X-Linked Mental Retardation 41"}
{"db":"OMIM","id":"300850","name":"X-Linked mental retardation 90"}
{"db":"OMIM","id":"309520","name":"X-linked mental retardation with marfanoid habitus syndrome"}
{"db":"OMIM","id":"300049","name":"X-linked periventricular heterotopia"}
{"db":"OMIM","id":"300400","name":"X-linked severe combined immunodeficiency"}
{"db":"OMIM","id":"194380","name":"Xerocytosis"}
{"db":"OMIM","id":"610651","name":"Xeroderma pigmentosum, complementation group b"}
{"db":"OMIM","id":"278720","name":"Xeroderma pigmentosum, group C"}
{"db":"OMIM","id":"278730","name":"Xeroderma pigmentosum, group D"}
{"db":"OMIM","id":"278740","name":"Xeroderma pigmentosum, group E"}
{"db":"OMIM","id":"278760","name":"Xeroderma pigmentosum, group F"}
{"db":"OMIM","id":"278780","name":"Xeroderma pigmentosum, group G"}
{"db":"OMIM","id":"278700","name":"Xeroderma pigmentosum, type 1"}
{"db":"OMIM","id":"278750","name":"Xeroderma pigmentosum, variant type"}
{"db":"OMIM","id":"610965","name":"XFE progeroid syndrome"}
{"db":"OMIM","id":"615829","name":"Xia-Gibbs syndrome"}
{"db":"OMIM","id":"603736","name":"Young Simpson syndrome"}
{"db":"OMIM","id":"216340","name":"Yunis Varon syndrome"}
{"db":"OMIM","id":"214100","name":"Zellweger syndrome"}
{"db":"OMIM","id":"300803","name":"ZNF711-Related X-linked Mental Retardation"}
{"db":"OMIM","id":"601885","name":"Zonular pulverulent cataract 3"}
{"db":"OMIM","id":"280000","name":"Zunich neuroectodermal syndrome"}
{"db":"OMIM","id":"173470","name":"Thrombocytopenia, neonatal alloimmune"}
{"db":"OMIM","id":"152200","name":"LIPOPROTEIN(a) DEFICIENCY, CONGENITAL"}
{"db":"OMIM","id":"109270","name":"Stomatocytic elliptocytosis, hereditary"}
{"db":"OMIM","id":"613673","name":"ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE IV"}
{"db":"OMIM","id":"144400","name":"Familial hypercholesterolemia"}
{"db":"OMIM","id":"612934","name":"Congenital disorder of glycosylation type 1t"}
{"db":"OMIM","id":"610765","name":"Ichthyosis, follicular atrophoderma, hypotrichosis, and hypohidrosis"}
{"db":"OMIM","id":"614253","name":"Enamel-renal syndrome"}
{"db":"OMIM","id":"610380","name":"Loeys-Dietz syndrome 2"}
{"db":"OMIM","id":"302300","name":"Cataract 40"}
{"db":"OMIM","id":"188770","name":"Tibia, hypoplasia of, with polydactyly"}
{"db":"OMIM","id":"236490","name":"Hyaline fibromatosis syndrome"}