disease_dict.json

{"1": "WILLIAMS-BEUREN SYNDROME; WBS", "0": "Cornelia de Lange syndrome", "484": "Hypoplastic left heart syndrome", "3": "Kabuki syndrome", "14": "Hyperphosphatasia with mental retardation syndrome", "250": "POIKILODERMA, HEREDITARY FIBROSING, WITH TENDON CONTRACTURES, MYOPATHY, AND PULMONARY FIBROSIS; POIKTMP", "2": "Noonan syndrome", "6": "Coffin-Siris syndrome", "42": "INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE; MRXSSB", "127": "DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY; DCIDP", "269": "Klippel-Feil syndrome", "120": "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 40; MRD40", "65": "Autism, susceptiblity to", "209": "INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES; IDDSFTA", "22": "SMITH-MAGENIS SYNDROME; SMS", "47": "WHITE-SUTTON SYNDROME; WHSUS", "27": "Cardiofaciocutaneous syndrome", "173": "INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF", "46": "BASILICATA-AKHTAR SYNDROME; MRXSBA", "443": "SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES; SSMCF", "182": "Microcephaly, growth restriction and increased sister chromatid exchange", "353": "COCKAYNE SYNDROME A; CSA", "456": "POIKILODERMA WITH NEUTROPENIA; PN", "83": "Rothmund-Thomson syndrome", "328": "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 72; MRT72", "243": "VICI SYNDROME; VICIS", "235": "SAUL-WILSON SYNDROME; SWILS", "200": "MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II; MOPD2", "266": "Noonan syndrome-like disorder with loose anagen hair", "490": "HAREL-YOON SYNDROME; HAYOS", "71": "INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES; IDDFBA", "4": "KBG SYNDROME; KBGS", "50": "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 7; MRD7", "294": "CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY; CAFDADD", "49": "AU-KLINE SYNDROME; AUKS", "465": "CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 2; CHTD2", "217": "ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES", "319": "Microcephaly, epilepsy, and diabetes syndrome", "152": "O'DONNELL-LURIA-RODAN SYNDROME; ODLURO", "374": "NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB", "349": "INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF", "112": "3MC syndrome", "93": "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 62; MRD62", "193": "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 87; DEE87", "29": "Cutis laxa", "304": "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 23; DEE23", "178": "LUSCAN-LUMISH SYNDROME; LLS", "497": "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 58; MRT58", "144": "NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES; NEDHSB", "504": "MYASTHENIC SYNDROME, CONGENITAL, 22; CMS22", "241": "SMITH-KINGSMORE SYNDROME; SKS", "408": "INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, 35; MRXS35", "73": "NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES; NEDRIHF", "18": "Baraitser-Winter syndrome", "67": "SMITH-LEMLI-OPITZ SYNDROME; SLOS", "106": "INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, TURNER TYPE; MRXST", "53": "Meier-Gorlin syndrome", "386": "MUENKE SYNDROME; MNKES", "19": "Hutchinson-Gilford progeria", "162": "Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies", "270": "Blepharocheilodontic syndrome", "34": "Robinow syndrome", "436": "Omodysplasia", "422": "MAPKAPK5", "57": "HAO-FOUNTAIN SYNDROME; HAFOUS", "91": "BOSCH-BOONSTRA-SCHAAF OPTIC ATROPHY SYNDROME; BBSOAS", "140": "FG syndrome", "395": "HARTSFIELD SYNDROME; HRTFDS", "219": "Fraser syndrome", "55": "OCULODENTODIGITAL DYSPLASIA; ODDD", "486": "CATEL-MANZKE SYNDROME; CATMANS", "169": "Frontometaphyseal dysplasia", "189": "CAREY-FINEMAN-ZITER SYNDROME; CFZS", "344": "Osteogenesis imperfecta", "26": "KOOLEN-DE VRIES SYNDROME; KDVS", "114": "INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED; MRXS99F", "166": "XIA-GIBBS SYNDROME; XIGIS", "263": "SIFRIM-HITZ-WEISS SYNDROME; SIHIWES", "134": "INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS; IDDDFP", "39": "INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 33; MRXS33", "109": "Hypotonia, infantile, with psychomotor retardation and characteristic facies", "480": "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 65; MRT65", "369": "MENTAL RETARDATION, AUTOSOMAL DOMINANT 51; MRD51", "225": "YOU-HOOVER-FONG SYNDROME; YHFS", "191": "ACROMICRIC DYSPLASIA; ACMICD", "161": "CHOPS SYNDROME; CHOPS", "170": "HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS", "253": "INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES; IDDHBA", "472": "KOSAKI OVERGROWTH SYNDROME; KOGS", "103": "OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME; OCNDS", "310": "ELSAHY-WATERS SYNDROME; ESWS", "325": "NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART; NEDBEH", "48": "Kleefstra syndrome", "30": "Joubert syndrome", "13": "Arthrogryposis, distal", "88": "Holoprosencephaly", "231": "SHASHI-PENA SYNDROME; SHAPNS", "262": "NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, CATARACTS, FEEDING DIFFICULTIES, AND DELAYED BRAIN MYELINATION; NECFM", "293": "CEREBELLAR ATROPHY, VISUAL IMPAIRMENT, AND PSYCHOMOTOR RETARDATION; CAVIPMR", "110": "SKRABAN-DEARDORFF SYNDROME; SKDEAS", "257": "MENTAL RETARDATION, AUTOSOMAL DOMINANT 48; MRD48", "107": "NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES; NEDDFL", "119": "TAKENOUCHI-KOSAKI SYNDROME; TKS", "233": "AL KAISSI SYNDROME; ALKAS", "420": "LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM; LMHD", "201": "FONTAINE PROGEROID SYNDROME; FPS", "44": "CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER; CHDFIDD", "212": "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 66; DEE66", "449": "Warburg micro syndrome", "163": "Microphthalmia, syndromic", "345": "INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPERTELORISM AND DISTINCTIVE FACIES; IDDHDF", "286": "KCTD3", "407": "Skin creases, congenital symmetric circumferential", "232": "Spinocerebellar ataxia, autosomal recessive", "11": "SOTOS SYNDROME; SOTOS", "104": "MARSHALL-SMITH SYNDROME; MRSHSS", "86": "VERHEIJ SYNDROME; VRJS", "398": "KEPPEN-LUBINSKY SYNDROME; KPLBS", "111": "NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES; NEDHIB", "187": "HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME; HINCONS", "177": "INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC DEFECTS AND DYSMORPHIC FACIES; IDDCDF", "155": "TURNPENNY-FRY SYNDROME; TPFS", "179": "MACROCEPHALY, ACQUIRED, WITH IMPAIRED INTELLECTUAL DEVELOPMENT; MACID", "320": "Cole-Carpenter syndrome", "333": "SHORT STATURE, RHIZOMELIC, WITH MICROCEPHALY, MICROGNATHIA, AND DEVELOPMENTAL DELAY; SRMMD", "28": "SCHAAF-YANG SYNDROME; SHFYNG", "64": "FOCAL DERMAL HYPOPLASIA; FDH", "54": "GLASS SYNDROME; GLASS", "115": "ACROFACIAL DYSOSTOSIS 1, NAGER TYPE; AFD1", "196": "CEREBROCOSTOMANDIBULAR SYNDROME; CCMS", "43": "ZTTK SYNDROME; ZTTKS", "76": "Menke-Hennekam syndrome", "476": "CYSTIC FIBROSIS; CF", "188": "Zimmermann-Laband syndrome", "202": "INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, BILLUART TYPE; MRXSBL", "180": "DIETS-JONGMANS SYNDROME; DIJOS", "80": "Orofaciodigital syndrome", "172": "INTRAUTERINE GROWTH RETARDATION, METAPHYSEAL DYSPLASIA, ADRENAL HYPOPLASIA CONGENITA, GENITAL ANOMALIES, AND IMMUNODEFICIENCY; IMAGEI", "95": "ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED; ATRX", "101": "NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA", "276": "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 46; MRT46", "467": "BRAIN MALFORMATIONS WITH OR WITHOUT URINARY TRACT DEFECTS; BRMUTD", "306": "PROLIDASE DEFICIENCY", "124": "DEVELOPMENTAL DELAY WITH OR WITHOUT DYSMORPHIC FACIES AND AUTISM; DEDDFA", "338": "NEURODEVELOPMENTAL DISORDER WITH STRUCTURAL BRAIN ANOMALIES AND DYSMORPHIC FACIES; NEDBAF", "237": "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80; DEE80", "513": "NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER; NDAGSCW", "9": "Rubinstein-Taybi syndrome", "121": "DESANTO-SHINAWI SYNDROME; DESSH", "36": "PRIMROSE SYNDROME; PRIMS", "457": "Van Maldergem syndrome", "313": "Hennekam lymphangiectasia-lymphedema syndrome", "16": "HELSMOORTEL-VAN DER AA SYNDROME; HVDAS", "277": "NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA", "102": "DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL IMPAIRMENT AND BEHAVIORAL ABNORMALITIES; DDVIBA", "227": "CONGENITAL HYPOTONIA, EPILEPSY, DEVELOPMENTAL DELAY, AND DIGITAL ANOMALIES; CHEDDA", "78": "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 21; MRD21", "174": "CLARK-BARAITSER SYNDROME; CLABARS", "311": "INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SEIZURES, AND SPEECH DELAY; IDDMSSD", "336": "CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY; CLIFAHDD", "7": "WIEDEMANN-STEINER SYNDROME; WDSTS", "51": "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 50, WITH BEHAVIORAL ABNORMALITIES; MRD50", "84": "Seckel syndrome", "21": "Treacher Collins syndrome", "221": "Linear skin defects with multiple congenital anomalies", "122": "Leukodystrophy, hypomyelinating", "149": "BURN-MCKEOWN SYNDROME; BMKS", "215": "MACROCEPHALY/AUTISM SYNDROME", "35": "MENTAL RETARDATION, AUTOSOMAL DOMINANT 57; MRD57", "451": "PREMATURE AGING SYNDROME, PENTTINEN TYPE; PENTT", "371": "ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE; AFDCIN", "38": "ARBOLEDA-THAM SYNDROME; ARTHS", "136": "AYME-GRIPP SYNDROME; AYGRP", "335": "MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA; MFDA", "77": "IMPAIRED INTELLECTUAL DEVELOPMENT AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS; MRFACD", "362": "MENTAL RETARDATION, AUTOSOMAL DOMINANT 58; MRD58", "234": "AL-RAQAD SYNDROME; ARS", "32": "TATTON-BROWN-RAHMAN SYNDROME; TBRS", "97": "WITTEVEEN-KOLK SYNDROME; WITKOS", "75": "LARSEN SYNDROME; LRS", "167": "Microcephaly, primary", "181": "MARSHALL SYNDROME; MRSHS", "40": "SAETHRE-CHOTZEN SYNDROME; SCS", "434": "OTOPALATODIGITAL SYNDROME, TYPE II; OPD2", "69": "Alagille syndrome", "23": "CHARGE SYNDROME", "207": "BRANCHIOOCULOFACIAL SYNDROME; BOFS", "357": "Ectodermal dysplasia (select examples)", "94": "CLEIDOCRANIAL DYSPLASIA; CCD", "10": "Mucopolysaccharidoses", "8": "NICOLAIDES-BARAITSER SYNDROME; NCBRS", "89": "NIJMEGEN BREAKAGE SYNDROME; NBS", "20": "MOWAT-WILSON SYNDROME; MOWS", "150": "Waardenburg syndrome", "100": "BORJESON-FORSSMAN-LEHMANN SYNDROME; BFLS", "423": "LIG4 SYNDROME", "33": "CRANIOFRONTONASAL SYNDROME; CFNS", "45": "COSTELLO SYNDROME; CSTLO", "283": "DONNAI-BARROW SYNDROME", "428": "Urofacial syndrome", "514": "Craniometaphyseal dysplasia", "37": "Bardet-Biedl syndrome", "72": "FRAGILE X SYNDROME; FXS", "267": "HAJDU-CHENEY SYNDROME; HJCYS", "129": "BOHRING-OPITZ SYNDROME; BOPS", "92": "BECKWITH-WIEDEMANN SYNDROME; BWS", "285": "APERT SYNDROME", "171": "GAPO SYNDROME; GAPOS", "24": "MUCOLIPIDOSIS II ALPHA/BETA", "223": "SHORT SYNDROME", "523": "Auriculocondylar syndrome", "62": "COFFIN-LOWRY SYNDROME; CLS", "440": "VELOCARDIOFACIAL SYNDROME; VCFS", "118": "Trichorhinophalangeal syndrome", "255": "LATERAL MENINGOCELE SYNDROME; LMNS", "60": "Opitz GBBB syndrome", "411": "COCKAYNE SYNDROME B; CSB", "510": "ACHONDROPLASIA; ACH", "90": "CROUZON SYNDROME", "15": "PITT-HOPKINS SYNDROME; PTHS", "307": "Focal facial dermal dysplasia", "352": "NEURODEVELOPMENTAL DISORDER WITH IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND ATAXIA; NEDIDHA", "309": "DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FACIAL FEATURES, AND SPARSE HAIR; DEDSSH", "452": "SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY; SINO", "105": "CHUNG-JANSEN SYNDROME; CHUJANS", "66": "BAINBRIDGE-ROPERS SYNDROME; BRPS", "153": "NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES; NEDSID", "302": "SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME; SGS", "351": "CHITAYAT SYNDROME; CHYTS", "419": "GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES; GDACCF", "259": "NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE; NDHSAL", "375": "FACIAL DYSMORPHISM, HYPERTRICHOSIS, EPILEPSY, INTELLECTUAL/DEVELOPMENTAL DELAY, AND GINGIVAL OVERGROWTH SYNDROME; FHEIG", "135": "CLEFT PALATE, CARDIAC DEFECTS, AND MENTAL RETARDATION; CPCMR", "474": "BARTSOCAS-PAPAS SYNDROME 1; BPS1", "367": "ABLEPHARON-MACROSTOMIA SYNDROME; AMS", "185": "PIERPONT SYNDROME; PRPTS", "192": "CEREBELLAR, OCULAR, CRANIOFACIAL, AND GENITAL SYNDROME; COFG", "251": "INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 34; MRXS34", "365": "NEURODEVELOPMENTAL DISORDER WITH CENTRAL AND PERIPHERAL MOTOR DYSFUNCTION; NEDCPMD", "499": "Kenny-Caffey syndrome", "216": "Long QT syndrome", "518": "Acrodysostosis", "370": "Arthrogryposis multiplex congenita", "272": "KEIPERT SYNDROME; KPTS", "199": "INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE; MRXSHD", "406": "CSNK1G1", "292": "OHDO SYNDROME, X-LINKED; OHDOX", "239": "INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE; MRXSCJ", "142": "MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME; MCAP", "226": "ALAZAMI SYNDROME; ALAZS", "70": "SCHUURS-HOEIJMAKERS SYNDROME; SHMS", "63": "CANTU SYNDROME", "218": "TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS", "432": "NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES; NEDHYMS", "205": "SANDESTIG-STEFANOVA SYNDROME; SANDSTEF", "347": "NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION; NEDHRIT", "507": "NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS1", "346": "NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS2", "165": "DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY; DIGFAN", "151": "Pontocerebellar hypoplasia", "508": "DEAFNESS, DYSTONIA, AND CEREBRAL HYPOMYELINATION; DDCH", "300": "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 76; DEE76", "229": "INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEVERE SPEECH AND AMBULATION DEFECTS; IDDSSAD", "52": "Multiple congenital anomalies-hypotonia-seizures syndrome", "299": "SCAF4", "184": "MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION; MCLMR", "281": "STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS; BAIDCS", "290": "LI-CAMPEAU SYNDROME; LICAS", "291": "BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME; BRUWAG", "228": "NEURODEVELOPMENTAL DISORDER AND LANGUAGE DELAY WITH OR WITHOUT STRUCTURAL BRAIN ABNORMALITIES; NEDLBA", "460": "Tuberous sclerosis", "356": "CHANARIN-DORFMAN SYNDROME; CDS", "87": "WEAVER SYNDROME; WVS", "481": "Fanconi anemia", "74": "RENPENNING SYNDROME 1; RENS1", "315": "STANKIEWICZ-ISIDOR SYNDROME; STISS", "350": "Myopathy, centronuclear", "402": "Cardiomyopathy, familial hypertrophic", "59": "BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS; BPES", "332": "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 53; MRD53", "282": "MENTAL RETARDATION, AUTOSOMAL DOMINANT 54; MRD54", "492": "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 59; MRD59", "156": "BOSMA ARHINIA MICROPHTHALMIA SYNDROME; BAMS", "230": "Silver-Russell syndrome", "68": "INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CABEZAS TYPE; MRXSC", "160": "INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN", "324": "TRICHOHEPATONEURODEVELOPMENTAL SYNDROME; THNS", "220": "NEUROOCULOCARDIOGENITOURINARY SYNDROME; NOCGUS", "208": "3-Methylglutaconic aciduria", "242": "INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY, WITH OR WITHOUT SEIZURES; IDDALDS", "258": "ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES; EDFAOB", "81": "CEBALID SYNDROME; CEBALID", "424": "NIZON-ISIDOR SYNDROME; NIZIDS", "284": "OPITZ-KAVEGGIA SYNDROME; OKS", "176": "GNAI1", "360": "NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES; NEDBAVC", "12": "OGDEN SYNDROME; OGDNS", "462": "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 13; DEE13", "341": "MCCUNE-ALBRIGHT SYNDROME; MAS", "429": "SIN3B", "308": "SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE; SPG50", "525": "Cerebral creatine deficiency syndrome", "128": "Teebi hypertelorism syndrome", "186": "INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES; IDDFSDA", "116": "RETT SYNDROME; RTT", "421": "LEOPARD syndrome", "41": "INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, LUBS TYPE; MRXSL", "289": "BIRK-BAREL SYNDROME; BIBARS", "108": "Stickler syndrome", "56": "SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1; SGBS1", "520": "MARBACH-RUSTAD PROGEROID SYNDROME; MARUPS", "248": "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 67; MRT67", "453": "SPINOCEREBELLAR ATAXIA 26; SCA26", "256": "MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND", "427": "NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA", "249": "INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, ARMFIELD TYPE; MRXSA", "385": "NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISTIC FEATURES AND/OR STRUCTURAL BRAIN ABNORMALITIES; NEDASB", "426": "NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CEREBELLAR ATROPHY, WITH OR WITHOUT SEIZURES; NEDHCAS", "240": "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83", "448": "SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA", "271": "NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, SPASTICITY, AND BRAIN ATROPHY; NEDESBA", "342": "NEURODEVELOPMENTAL DISORDER AND STRUCTURAL BRAIN ANOMALIES WITH OR WITHOUT SEIZURES AND SPASTICITY; NEDBASS", "321": "PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES; PAMDDFS", "279": "NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA", "197": "AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS", "382": "NEURODEVELOPMENTAL DISORDER WITH NONSPECIFIC BRAIN ABNORMALITIES AND WITH OR WITHOUT SEIZURES; NEDBAS", "337": "NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED", "297": "NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND AUTISTIC FEATURES WITH OR WITHOUT HYPERKINETIC MOVEMENTS; NEDHAHM", "412": "SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SPONASTRIME TYPE; SEMDSP", "373": "NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND SPEECH AND WALKING IMPAIRMENT; NEDSSWI", "330": "Trichothiodystrophy", "204": "BEAULIEU-BOYCOTT-INNES SYNDROME; BBIS", "404": "CULLER-JONES SYNDROME; CJS", "517": "NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES; NDCAGF", "154": "ALSTROM SYNDROME; ALMS", "148": "Three M syndrome", "303": "SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME", "376": "SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM", "79": "Ehlers-Danlos syndrome", "482": "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 5; MRT5", "372": "Mitochondrial DNA depletion syndrome", "397": "CARDIOSPONDYLOCARPOFACIAL SYNDROME; CSCF", "413": "STEEL SYNDROME; STLS", "190": "SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS; SOFT", "252": "SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS; SCA42ND", "521": "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 18; DEE18", "516": "FACIAL DYSMORPHISM, LENS DISLOCATION, ANTERIOR SEGMENT ABNORMALITIES, AND SPONTANEOUS FILTERING BLEBS; FDLAB", "236": "ALZAHRANI-KUWAHARA SYNDROME; ALKUS", "511": "ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS; ABS1", "159": "GAND SYNDROME; GAND", "331": "FRANK-TER HAAR SYNDROME; FTHS", "58": "MYHRE SYNDROME; MYHRS", "298": "SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES; SIMHA", "138": "Cold-induced sweating syndrome", "238": "WOLF-HIRSCHHORN SYNDROME; WHS", "355": "INTELLECTUAL DISABILITY-HYPOTONIC FACIES SYNDROME, X-LINKED, 1; MRXHF1", "85": "COHEN SYNDROME; COH1", "132": "SNIJDERS BLOK-CAMPEAU SYNDROME; SNIBCPS", "473": "GABRIELE-DE VRIES SYNDROME; GADEVS", "334": "MACS SYNDROME", "526": "FAM20B", "438": "PAGANINI-MIOZZO SYNDROME; MRXSPM", "377": "NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND STRUCTURAL BRAIN ANOMALIES; NEDMIBA", "399": "OCULOSKELETODENTAL SYNDROME; OCSKD", "496": "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 39; MRT39", "327": "GONADAL DYSGENESIS, DYSMORPHIC FACIES, RETINAL DYSTROPHY, AND MYOPATHY; GDRM", "450": "SEIZURES, SCOLIOSIS, AND MACROCEPHALY/MICROCEPHALY SYNDROME; SSMS", "213": "HEART AND BRAIN MALFORMATION SYNDROME; HBMS", "505": "MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT; EVMPS", "280": "COHEN-GIBSON SYNDROME; COGIS", "405": "RAFIQ SYNDROME; RAFQS", "317": "INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE, FACIAL ANOMALIES, AND SPEECH DEFECTS; IDDSFAS", "130": "MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE; MFDGA", "278": "YWHAZ", "305": "FAUNDES-BANKA SYNDROME; FABAS", "17": "FLOATING-HARBOR SYNDROME; FLHS", "384": "MYASTHENIC SYNDROME, CONGENITAL, 19; CMS19", "98": "KAUFMAN OCULOCEREBROFACIAL SYNDROME; KOS", "323": "SULEIMAN-EL-HATTAB SYNDROME; SULEHS", "125": "INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 93; XLID93", "175": "HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME; HRDS", "364": "Desbuquois dysplasia", "214": "Craniosynostosis", "31": "OHDO SYNDROME, SBBYS VARIANT; SBBYSS", "326": "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 95; DEE95", "264": "LAMB-SHAFFER SYNDROME; LAMSHF", "466": "INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 98; XLID98", "265": "SIX2", "254": "INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, RAYMOND TYPE; MRXSR", "433": "Otofaciocervical syndrome", "506": "ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME; AAMR", "383": "MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME; MICCAP", "401": "SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE; SPG47", "133": "RAUCH-STEINDL SYNDROME; RAUST", "157": "Galloway-Mowat syndrome", "168": "FACIAL PALSY, CONGENITAL, WITH PTOSIS AND VELOPHARYNGEAL DYSFUNCTION; FPVEPD", "390": "NANCE-HORAN SYNDROME; NHS", "301": "Facial paresis, hereditary congenital", "410": "CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND ROBIN SEQUENCE", "183": "OTOPALATODIGITAL SYNDROME, TYPE I; OPD1", "158": "MOEBIUS SYNDROME; MBS", "288": "BARBER-SAY SYNDROME; BBRSAY", "524": "Lissencephaly", "498": "Central hypoventilation syndrome, congenital", "454": "WARSAW BREAKAGE SYNDROME; WABS", "459": "Trichohepatoenteric syndrome", "477": "LACRIMOAURICULODENTODIGITAL SYNDROME; LADD", "431": "PINEAL HYPERPLASIA, INSULIN-RESISTANT DIABETES MELLITUS, AND SOMATIC ABNORMALITIES", "287": "VAN DER WOUDE SYNDROME 1; VWS1", "381": "MYOPATHY, CONGENITAL, BAILEY-BLOCH; MYPBB", "312": "SHORT STATURE, BRACHYDACTYLY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES; SBIDDS", "211": "CEREBELLOFACIODENTAL SYNDROME; CFDS", "475": "CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B3; CMT4B3", "380": "ACTL6A", "145": "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 23; MRD23", "509": "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 54; DEE54", "392": "CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY; CAKUTHED", "210": "JANSEN-DE VRIES SYNDROME; JDVS", "461": "Infantile liver failure syndrome", "147": "JOHANSON-BLIZZARD SYNDROME; JBS", "388": "Epilepsy, progressive myoclonic", "368": "NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF", "379": "Mandibuloacral dysplasia with lipodystrophy", "348": "NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, STEREOTYPIC HAND MOVEMENTS, AND IMPAIRED LANGUAGE; NEDHSIL", "400": "MARFANOID-PROGEROID-LIPODYSTROPHY SYNDROME; MFLS", "522": "MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION; MDFPMR", "394": "CURRARINO SYNDROME", "361": "MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I; MOPD1", "296": "DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM; NDH", "273": "MELNICK-NEEDLES SYNDROME; MNS", "416": "KAGAMI-OGATA SYNDROME", "141": "DIGEORGE SYNDROME; DGS", "464": "GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE", "245": "PHELAN-MCDERMID SYNDROME; PHMDS", "458": "PITT-HOPKINS-LIKE SYNDROME 1; PTHSL1", "131": "NEURODEVELOPMENTAL DISORDER WITH SPASTIC DIPLEGIA AND VISUAL DEFECTS; NEDSDV", "512": "DDX23", "493": "CK SYNDROME; CKS", "359": "Mitochondrial complex V (ATP synthase) deficiency, nuclear type", "244": "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 26; MRD26", "366": "SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION; SSMED", "501": "MICROCEPHALY, GROWTH DEFICIENCY, SEIZURES, AND BRAIN MALFORMATIONS; MIGSB", "396": "TONNE-KALSCHEUER SYNDROME; TOKAS", "260": "NABLUS MASK-LIKE FACIAL SYNDROME; NMLFS", "403": "PLXND1", "418": "REV3L", "417": "NEUROFIBROMATOSIS, TYPE I; NF1", "224": "OTITIS MEDIA, SUSCEPTIBILITY TO; OMS", "479": "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 7; MRT7", "343": "CRANIOFACIAL MICROSOMIA; CFM", "198": "INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNYDER-ROBINSON TYPE; MRXSSR", "471": "JAWAD SYNDROME; JWDS", "358": "Osteopetrosis, autosomal recessive", "425": "ROBINOW-SORAUF SYNDROME", "430": "SWEENEY-COX SYNDROME; SWCOS", "314": "DUANE-RADIAL RAY SYNDROME; DRRS", "5": "ANGELMAN SYNDROME; AS", "502": "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 70; DEE70", "527": "FOXA2", "491": "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 38; MRD38", "488": "INTELLECTUAL DEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT SEIZURES; IDDBCS", "468": "INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CHRISTIANSON TYPE; MRXSCH", "194": "CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY; CCFDN", "322": "PROTEUS SYNDROME", "354": "CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME; CFSMR", "146": "PFEIFFER SYNDROME", "340": "DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, MENTAL RETARDATION, AND SEIZURES SYNDROME; DOORS", "439": "SALT AND PEPPER DEVELOPMENTAL REGRESSION SYNDROME; SPDRS", "519": "FRIAS SYNDROME", "414": "PETTIGREW SYNDROME; PGS", "393": "VAN DEN ENDE-GUPTA SYNDROME; VDEGS", "447": "Neu-Laxova syndrome", "295": "PETERS-PLUS SYNDROME; PTRPLS", "391": "FILIPPI SYNDROME; FLPIS", "487": "IMMUNODEFICIENCY 23; IMD23", "274": "CHROMOSOME 2q37 DELETION SYNDROME", "206": "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 2; DEE2", "164": "DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES; DEHMBA", "117": "GENITOPATELLAR SYNDROME; GTPTS", "126": "PRADER-WILLI SYNDROME; PWS", "329": "NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPOTONIA, SEIZURES, AND CEREBELLAR ATROPHY; NEDHSCA", "455": "Spondylometaphyseal dysplasia", "515": "ATP9A", "363": "MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES", "478": "LAMB4", "389": "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84; DEE84", "470": "JARID2", "442": "Spastic paraplegia", "387": "NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT EARLY-ONSET GENERALIZED EPILEPSY; NEDEGE", "500": "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 7; DEE7", "247": "POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME; POBINDS", "495": "Glut1 deficiency syndrome", "435": "Oculocutaneous albinism", "25": "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 5; MRD5", "437": "Usher syndrome", "469": "GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES; GDSBA", "483": "CEREBELLAR DYSFUNCTION WITH VARIABLE COGNITIVE AND BEHAVIORAL ABNORMALITIES; CECBA", "82": "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES; MRD6", "503": "Methylmalonic aciduria and homocystinuria", "246": "TAF4", "378": "ALAZAMI-YUAN SYNDROME; ALYUS", "99": "FBXW7", "195": "DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB", "143": "BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS", "318": "ASPARAGINE SYNTHETASE DEFICIENCY; ASNSD", "139": "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 28; DEE28", "123": "CDH8", "485": "CHROMOSOME 1p36 DELETION SYNDROME, DISTAL", "261": "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 94; DEE94", "222": "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 4; DEE4", "137": "NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT; NDHMSD", "268": "EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT; FESD", "444": "SHUKLA-VERNON SYNDROME; SHUVER", "316": "DOWN SYNDROME", "61": "CHROMOSOME 22q11.2 DELETION SYNDROME, DISTAL", "463": "CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA; CHDED", "339": "GOMEZ-LOPEZ-HERNANDEZ SYNDROME; GLHS", "113": "NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE; NEDMIAL", "409": "CIMDAG SYNDROME; CIMDAG", "445": "RADIO-TARTAGLIA SYNDROME; RATARS", "415": "DEGCAGS SYNDROME; DEGCAGS", "96": "MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA", "203": "GERODERMA OSTEODYSPLASTICUM; GO", "446": "WRINKLY SKIN SYNDROME; WSS", "275": "KDM2B", "441": "SPONDYLOEPIMETAPHYSEAL DYSPLASIA, ISIDOR-TOUTAIN TYPE; SEMDIST", "494": "Griscelli syndrome", "489": "INTELLECTUAL DEVELOPMENTAL DISORDER WITH NASAL SPEECH, DYSMORPHIC FACIES, AND VARIABLE SKELETAL ANOMALIES; IDNADFS"}