| *200150 : CHOREOACANTHOCYTOSIS; CHAC *200350 : ACETYL-CoA CARBOXYLASE DEFICIENCY *200400 : ACHALASIA, FAMILIAL ESOPHAGEAL *200500 : ACHEIROPODY *200600 : ACHONDROGENESIS, TYPE IA; ACG1A *200990 : ACROCALLOSAL SYNDROME; ACLS *201000 : ACROCEPHALOPOLYSYNDACTYLY TYPE II *201100 : ACRODERMATITIS ENTEROPATHICA, ZINC-DEFICIENCY TYPE; AEZ *201300 : ACROOSTEOLYSIS, NEUROGENIC *201400 : ACTH DEFICIENCY *201450 : ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN; ACADM *201460 : ACYL-CoA DEHYDROGENASE, LONG-CHAIN, DEFICIENCY OF *201470 : ACYL-CoA DEHYDROGENASE, SHORT-CHAIN; ACADS *201475 : ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF *201550 : ADDUCTED THUMBS SYNDROME *201810 : ADRENAL HYPERPLASIA II *201910 : ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY *202010 : ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 11-@BETA-HYDROXYLASE DEFICIENCY *202110 : ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 17-ALPHA-HYDROXYLASE DEFICIENCY *202200 : ADRENAL UNRESPONSIVENESS TO ACTH *202500 : SEVERE COMBINED IMMUNODEFICIENCY 1; SCID1 *203100 : ALBINISM I *203200 : ALBINISM II *203300 : HERMANSKY-PUDLAK SYNDROME; HPS *203500 : ALKAPTONURIA *203650 : ALOPECIA-MENTAL RETARDATION SYNDROME *203700 : ALPERS DIFFUSE DEGENERATION OF CEREBRAL GRAY MATTER WITH HEPATIC CIRRHOSIS *203740 : ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY *203750 : ALPHA-METHYLACETOACETICACIDURIA *203800 : ALSTROM SYNDROME; ALMS1 *204200 : CEROID LIPOFUSCINOSIS, NEURONAL 3, JUVENILE; CLN3 *204300 : CEROID LIPOFUSCINOSIS, NEURONAL 4; CLN4 *204400 : AMAUROTIC IDIOCY, CONGENITAL FORM *204500 : CEROID LIPOFUSCINOSIS, NEURONAL 2, LATE INFANTILE TYPE; CLN2 *204600 : AMAUROTIC IDIOCY, LATE INFANTILE TYPE, WITH MULTILAMELLAR CYTOSOMES *204700 : AMELOGENESIS IMPERFECTA, PIGMENTED HYPOMATURATION TYPE *204800 : AMOBARBITAL, DEFICIENT N-HYDROXYLATION OF *205100 : AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE; ALS2 *205200 : AMYOTROPHIC LATERAL SCLEROSIS, JUVENILE, WITH DEMENTIA *206500 : ANENCEPHALY *206570 : ANGIOMATOSIS, DIFFUSE CORTICOMENINGEAL, OF DIVRY AND VAN BOGAERT *206700 : ANIRIDIA, CEREBELLAR ATAXIA, AND MENTAL DEFICIENCY *206780 : ANODONTIA, COMPLETE, OF PERMANENT DENTITION *206800 : ANONYCHIA *206900 : ANOPHTHALMOS, TRUE OR PRIMARY *206920 : ANOPHTHALMOS WITH LIMB ANOMALIES *207410 : ANTLEY-BIXLER SYNDROME; ABS *207750 : APOLIPOPROTEIN C-II DEFICIENCY, TYPE I HYPERLIPOPROTEINEMIA DUE TO *207800 : ARGININEMIA *207900 : ARGININOSUCCINICACIDURIA *208000 : ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY *208060 : ARTERIOSCLEROSIS, SEVERE JUVENILE *208100 : ARTHROGRYPOSIS MULTIPLEX CONGENITA, NEUROGENIC TYPE; AMCN *208150 : PENA-SHOKEIR SYNDROME, TYPE I *208200 : ARTHROGRYPOSIS-LIKE DISORDER *208230 : ARTHROPATHY, PROGRESSIVE PSEUDORHEUMATOID, OF CHILDHOOD; PPAC *208250 : ARTHROPATHY-CAMPTODACTYLY SYNDROME *208400 : ASPARTYLGLUCOSAMINURIA *208500 : ASPHYXIATING THORACIC DYSTROPHY; ATD *208750 : ATAXIA, DEAFNESS, AND CARDIOMYOPATHY *208800 : PYRUVATE DECARBOXYLASE DEFICIENCY *208900 : ATAXIA-TELANGIECTASIA; AT *208905 : ATAXIA-TELANGIECTASIA, COMPLEMENTATION GROUP D; ATD; ATDC *209100 : ATONIC-ASTATIC SYNDROME OF FOERSTER *209900 : BARDET-BIEDL SYNDROME, TYPE 2; BBS2 *209901 : BARDET-BIEDL SYNDROME, TYPE 1; BBS1 *210100 : BETA-AMINOISOBUTYRIC ACID, URINARY EXCRETION OF *210200 : BETA-METHYLCROTONYLGLYCINURIA I *210250 : SITOSTEROLEMIA *210370 : BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY *210600 : BIRD-HEADED DWARFISM *210710 : MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I *210720 : MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II *210730 : MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE III *210900 : BLOOM SYNDROME; BLM *211100 : FUCOSYLTRANSFERASE 1; FUT1 *211180 : BOWEN HUTTERITE SYNDROME *211350 : BOWING, CONGENITAL, WITH SHORT BONES *211390 : BRITTLE HAIR AND MENTAL DEFICIT *211410 : BREAST CANCER, DUCTAL, 1; BRCD1 *211420 : BREAST CANCER, DUCTAL, 2; BRCD2 *211500 : BULBAR PALSY, PROGRESSIVE, OF CHILDHOOD *211530 : BULBAR PALSY, PROGRESSIVE, WITH PERCEPTIVE DEAFNESS *211750 : C SYNDROME *211890 : CAMPOMELIA, CUMMING TYPE *211900 : CALCINOSIS, TUMORAL, WITH HYPERPHOSPHATEMIA *211960 : CAMPTODACTYLY WITH MUSCULAR HYPOPLASIA, SKELETAL DYSPLASIA, AND ABNORMAL PALMAR CREASES *212050 : CANDIDIASIS, FAMILIAL CHRONIC MUCOCUTANEOUS; FCMC *212130 : CARDIOMYOPATHY ASSOCIATED WITH MYOPATHY AND SUDDEN DEATH *212138 : CARNITINE-ACYLCARNITINE TRANSLOCASE; CACT *212160 : CARNITINE DEFICIENCY, MYOPATHIC *212200 : CARNOSINEMIA *212350 : CATARACT AND CARDIOMYOPATHY *212400 : CATARACT AND CONGENITAL ICHTHYOSIS *212500 : CATARACT, CONGENITAL OR JUVENILE *212780 : CENANI SYNDACTYLISM *212840 : CEREBELLAR ATAXIA AND HYPOGONADOTROPIC HYPOGONADISM *212895 : CEREBELLAR ATAXIA, EARLY-ONSET, WITH RETAINED TENDON REFLEXES; EOCA *213000 : CEREBELLAR HYPOPLASIA *213100 : CEREBELLOPARENCHYMAL DISORDER II; CPD II *213200 : CEREBELLAR ATAXIA 1; CLA1 *213300 : CEREBELLOPARENCHYMAL DISORDER IV; CPD IV *213600 : CEREBRAL CALCIFICATION, NONARTERIOSCLEROTIC *213700 : CEREBROTENDINOUS XANTHOMATOSIS *213980 : CEREBROFACIOTHORACIC DYSPLASIA *214110 : CEREBROHEPATORENAL SYNDROME, VARIANT TYPES *214370 : NEUROPATHY, HEREDITARY MOTOR AND SENSORY, WITH DEAFNESS, MENTAL RETARDATION, AND ABSENT SENSORY LARGE MYELINATED FIBERS *214400 : CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A; CMT4A *214500 : CHEDIAK-HIGASHI SYNDROME; CHS1 *214900 : CHOLESTASIS-LYMPHEDEMA SYNDROME *214950 : CHOLESTASIS, INTRAHEPATIC, WITH DEFECTIVE METABOLISM OF TRIHYDROXYCOPROSTANIC ACID TO CHOLIC ACID *215400 : CHORDOMA *215470 : CHORIORETINAL DYSTROPHY, SPINOCEREBELLAR ATAXIA, AND HYPOGONADOTROPIC HYPOGONADISM *215500 : CHOROIDAL DYSTROPHY, CENTRAL AREOLAR; CACD *215520 : CILIARY DYSKINESIA DUE TO TRANSPOSITION OF CILIARY MICROTUBULES *216340 : CLEIDOCRANIAL DYSPLASIA WITH MICROGNATHIA, ABSENT THUMBS, AND DISTAL APHALANGIA *216400 : COCKAYNE SYNDROME, TYPE I; CKN1 *216550 : COHEN SYNDROME; COH1 *216700 : COLLAGENOSIS, FAMILIAL REACTIVE PERFORATING; RPC *216950 : COMPLEMENT COMPONENT C1r DEFICIENCY *217000 : COMPLEMENT COMPONENT 2 DEFICIENCY *217030 : I FACTOR; IF *217050 : COMPLEMENT COMPONENT 6 DEFICIENCY *217070 : COMPLEMENT COMPONENT 7 DEFICIENCY *217300 : CORNEA PLANA 2; CNA2 *217400 : CORNEAL DYSTROPHY AND PERCEPTIVE DEAFNESS *217500 : CORNEAL DYSTROPHY, BAND-SHAPED *217700 : CORNEAL ENDOTHELIAL DYSTROPHY 2; CHED2 *217800 : MACULAR DYSTROPHY, CORNEAL, 1; MCDC1 *218000 : CORPUS CALLOSUM, AGENESIS OF, WITH NEURONOPATHY *218030 : CORTISOL 11-BETA-KETOREDUCTASE DEFICIENCY *218040 : COSTELLO SYNDROME *218100 : CRANIAL NERVES, CONGENITAL PARESIS OF *218330 : CRANIOECTODERMAL DYSPLASIA *218400 : CRANIOMETAPHYSEAL DYSPLASIA, RECESSIVE TYPE *218900 : CROME SYNDROME *219000 : CRYPTOPHTHALMOS WITH OTHER MALFORMATIONS *219100 : CUTIS LAXA *219150 : CUTIS LAXA, CORNEAL CLOUDING, AND MENTAL RETARDATION *219500 : CYSTATHIONINURIA *219800 : CYSTINOSIS, NEPHROPATHIC; CTNS *220111 : LEIGH SYNDROME, FRENCH-CANADIAN TYPE *220120 : D-GLYCERICACIDEMIA *220150 : DALMATIAN HYPOURICEMIA *220210 : DANDY-WALKER-LIKE MALFORMATION WITH ATRIOVENTRICULAR SEPTAL DEFECT *220500 : DEAFNESS, CONGENITAL, AND ONYCHODYSTROPHY, RECESSIVE FORM *221300 : DEAFNESS, CONDUCTIVE, WITH MALFORMED EXTERNAL EAR *221350 : DEAFNESS, CONGENITAL, WITH VITILIGO AND ACHALASIA *221650 : DEAFNESS, NEURAL, PROGRESSIVE CHILDHOOD TYPE *221770 : POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY; PLOSL *221800 : DERMOCHONDROCORNEAL DYSTROPHY *221900 : DETACHMENT OF RETINA, CONGENITAL *222100 : DIABETES MELLITUS, INSULIN-DEPENDENT, 1; IDDM1 *222300 : WOLFRAM SYNDROME *222600 : DIASTROPHIC DYSPLASIA; DTD *222690 : DIBASICAMINOACIDURIA I *222745 : 2,4-@DIENOYL-CoA REDUCTASE; DECR *222748 : DIHYDROPYRIMIDINASE; DPYS *222800 : DIPHOSPHOGLYCERATE MUTASE DEFICIENCY OF ERYTHROCYTE *222900 : DISACCHARIDE INTOLERANCE I *223000 : LACTASE DEFICIENCY, CONGENITAL *223100 : DISACCHARIDE INTOLERANCE III *223360 : DOPAMINE BETA-HYDROXYLASE, PLASMA; DBH *223370 : DUBOWITZ SYNDROME *223800 : DYGGVE-MELCHIOR-CLAUSEN DISEASE *223900 : DYSAUTONOMIA, FAMILIAL; DYS *224050 : DYSEQUILIBRIUM SYNDROME; DES *224100 : ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE II; CDAN2 *224120 : ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE I; CDAN1 *224300 : DYSOSTEOSCLEROSIS *224500 : DYSTONIA MUSCULORUM DEFORMANS 2; DYT2 *224690 : EAR, PATELLA, SHORT STATURE SYNDROME *224750 : SCHOPF-SCHULZ-PASSARGE SYNDROME *225000 : ECTODERMAL DYSPLASIA, CLEFT LIP AND PALATE, HAND AND FOOT DEFORMITY, AND MENTAL RETARDATION *225060 : ECTODERMAL DYSPLASIA, TYPE 4; ED4 *225200 : ECTOPIA LENTIS WITH ECTOPIA OF PUPIL *225250 : ECTOPIC THYROID WITH HYPOTHYROIDISM *225280 : EEM SYNDROME *225410 : EHLERS-DANLOS SYNDROME, TYPE VII, AUTOSOMAL RECESSIVE *225500 : ELLIS-VAN CREVELD SYNDROME; EVC *225750 : ENCEPHALOPATHY, FAMILIAL INFANTILE, WITH CALCIFICATION OF BASAL GANGLIA AND CHRONIC CEREBROSPINAL FLUID LYMPHOCYTOSIS *225790 : ENCEPHALOCLASTIC PROLIFERATIVE VASCULOPATHY; EPV *226200 : ENTEROKINASE DEFICIENCY *226300 : ENTEROPATHY, PROTEIN-LOSING *226450 : EPIDERMOLYSIS BULLOSA INVERSA DYSTROPHICA *226500 : EPIDERMOLYSIS BULLOSA DYSTROPHICA NEUROTROPHICA *226750 : EPILEPSY AND YELLOW TEETH *226900 : EPIPHYSEAL DYSPLASIA, MULTIPLE *226960 : EPIPHYSEAL DYSPLASIA, MICROCEPHALY, AND NYSTAGMUS *226980 : EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS *227090 : ERYTHRODERMA, LETHAL CONGENITAL *227150 : ETHANOLAMINOSIS *227220 : EYE COLOR 3; EYCL3 *227240 : EYE COLOR 1; EYCL1 *227260 : FACIAL ECTODERMAL DYSPLASIA *227330 : FACIODIGITOGENITAL SYNDROME, RECESSIVE *227400 : FACTOR V DEFICIENCY *227500 : FACTOR VII DEFICIENCY *227600 : FACTOR X DEFICIENCY *227645 : FANCONI ANEMIA, COMPLEMENTATION GROUP C; FANCC *227646 : FANCONI ANEMIA, COMPLEMENTATION GROUP D; FANCD *227650 : FANCONI ANEMIA, COMPLEMENTATION GROUP A; FANCA *227660 : FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB *228000 : FARBER LIPOGRANULOMATOSIS *228100 : FATTY METAMORPHOSIS OF VISCERA *228250 : FEMUR, UNILATERAL BIFID, WITH MONODACTYLOUS ECTRODACTYLY *228520 : FIBROCHONDROGENESIS *228600 : FIBROMATOSIS, JUVENILE HYALINE *228900 : FIBULA APLASIA AND COMPLEX BRACHYDACTYLY *228960 : FLAUJEAC FACTOR DEFICIENCY *229000 : FLETCHER FACTOR DEFICIENCY *229050 : FOLIC ACID, TRANSPORT DEFECT INVOLVING *229100 : FORMIMINOTRANSFERASE DEFICIENCY *229200 : FRAGILITAS OCULI WITH JOINT HYPEREXTENSIBILITY *229300 : FRIEDREICH ATAXIA 1; FRDA *229400 : FRONTOFACIONASAL DYSOSTOSIS *229500 : FRUCTOSE AND GALACTOSE INTOLERANCE *229600 : FRUCTOSE INTOLERANCE, HEREDITARY *229700 : FRUCTOSE-1,6-BISPHOPHATASE 1; FBP1 *229800 : FRUCTOSURIA *229850 : FRYNS SYNDROME; FRNS *230000 : FUCOSIDOSIS *230200 : GALACTOKINASE DEFICIENCY *230350 : GALACTOSE EPIMERASE DEFICIENCY *230400 : GALACTOSEMIA *230450 : GAMMA-GLUTAMYLCYSTEINE SYNTHETASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO *230500 : GANGLIOSIDOSIS, GENERALIZED GM1, TYPE I *230700 : GANGLIOSIDOSIS, GM2, TYPE III, OR JUVENILE TYPE *230740 : GAPO SYNDROME *230800 : GAUCHER DISEASE, TYPE I *231050 : GELEOPHYSIC DYSPLASIA *231070 : GERODERMA OSTEODYSPLASTICA; GO *231090 : HYDATIDIFORM MOLE *231200 : GIANT PLATELET SYNDROME *231500 : GLAUCOMA, JUVENILE *231550 : ACHALASIA-ADDISONIANISM-ALACRIMIA SYNDROME; AAA *231610 : GLUCURONIDASE, MOUSE, MODIFIER OF; GUSM *231670 : GLUTARICACIDEMIA I *231675 : GLUTARICACIDURIA IIC *231680 : GLUTARICACIDURIA IIA *231950 : GLUTATHIONURIA *232000 : PROPIONICACIDEMIA, TYPE I *232050 : PROPIONICACIDEMIA, TYPE II *232200 : GLYCOGEN STORAGE DISEASE I *232300 : GLYCOGEN STORAGE DISEASE II *232400 : GLYCOGEN STORAGE DISEASE III *232500 : GLYCOGEN STORAGE DISEASE IV *232600 : GLYCOGEN STORAGE DISEASE V *232700 : GLYCOGEN STORAGE DISEASE VI *232800 : GLYCOGEN STORAGE DISEASE VII *233100 : RENAL GLUCOSURIA; GLYS1 *233400 : GONADAL DYSGENESIS, XX TYPE, WITH DEAFNESS *233690 : GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL CYTOCHROME-b-NEGATIVE FORM *233700 : GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL CYTOCHROME-b-POSITIVE FORM I *233710 : GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL CYTOCHROME-b-POSITIVE FORM II *234000 : HAGEMAN FACTOR DEFICIENCY *234050 : HAIR-BRAIN SYNDROME *234200 : HALLERVORDEN-SPATZ DISEASE *234500 : HARTNUP DISORDER *235200 : HEMOCHROMATOSIS; HFE *235510 : HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME *235800 : HISTIDINEMIA *235830 : HISTIDINURIA DUE TO A RENAL TUBULAR DEFECT *235900 : HISTIOCYTOSIS, FAMILIAL LIPOCHROME *236100 : HOLOPROSENCEPHALY 1, ALOBAR; HPE1 *236200 : HOMOCYSTINURIA *236250 : 5,10-@METHYLENETETRAHYDROFOLATE REDUCTASE; MTHFR *236400 : HUMERORADIAL SYNOSTOSIS *236670 : WALKER-WARBURG SYNDROME *236680 : HYDROLETHALUS SYNDROME *236700 : MCKUSICK-KAUFMAN SYNDROME; MKKS *236730 : UROFACIAL SYNDROME; UFS *236792 : L-2-@HYDROXYGLUTARICACIDEMIA *236795 : 3-@HYDROXYISOBUTYRICACIDURIA *236800 : HYDROXYKYNURENINURIA *236900 : HYDROXYLYSINURIA *237000 : HYDROXYPROLINEMIA *237300 : HYPERAMMONEMIA DUE TO CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY *237310 : HYPERAMMONEMIA DUE TO N-ACETYLGLUTAMATE SYNTHETASE DEFICIENCY *237450 : HYPERBILIRUBINEMIA, ROTOR TYPE *237800 : HYPERBILIRUBINEMIA, SHUNT *238300 : HYPERGLYCINEMIA, ISOLATED NONKETOTIC, TYPE I *238310 : HYPERGLYCINEMIA, ISOLATED NONKETOTIC, TYPE II *238320 : HYPERGONADOTROPIC HYPOGONADISM; HHG *238330 : HYPERGLYCINEMIA, ISOLATED NONKETOTIC, TYPE III *238331 : GLYCINE CLEAVAGE SYSTEM L PROTEIN; GCSL *238600 : HYPERLIPOPROTEINEMIA, TYPE I *238700 : HYPERLYSINEMIA *239000 : HYPEROSTOSIS CORTICALIS DEFORMANS JUVENILIS *239100 : HYPEROSTOSIS CORTICALIS GENERALISATA *239300 : HYPERPHOSPHATASIA WITH MENTAL RETARDATION *239500 : HYPERPROLINEMIA, TYPE I *239510 : HYPERPROLINEMIA, TYPE II *239800 : HYPERTELORISM, MICROTIA, FACIAL CLEFTING SYNDROME *240200 : HYPOADRENOCORTICISM, FAMILIAL *240300 : AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE I *240500 : COMMON VARIABLE IMMUNODEFICIENCY *241080 : HYPOGONADISM, DIABETES MELLITUS, ALOPECIA, MENTAL RETARDATION, AND ELECTROCARDIOGRAPHIC ABNORMALITIES *241150 : HYPOKALEMIA, FAMILIAL *241310 : HYPOMANDIBULAR FACIOCRANIAL DYSOSTOSIS *241400 : HYPOPARATHYROIDISM *241410 : HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME; HRD *241530 : HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, HEREDITARY; HHRH *241900 : HYPOTRICHOSIS *242500 : ICHTHYOSIS CONGENITA, HARLEQUIN FETUS TYPE *242600 : IMINOGLYCINURIA *242650 : IMMOTILE CILIA SYNDROME 1; ICS1 *242670 : IMMOTILE CILIA SYNDROME DUE TO DEFECTIVE RADIAL SPOKES *242700 : IMMUNE DEFECT DUE TO ABSENCE OF THYMUS *242860 : IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME *242900 : IMMUNOOSSEOUS DYSPLASIA *243000 : INDIFFERENCE TO PAIN *243150 : INTESTINAL ATRESIA, MULTIPLE *243180 : INTESTINAL PSEUDOOBSTRUCTION DUE TO NEURONAL DISEASE *243305 : INVERSIN *243400 : ISONIAZID INACTIVATION *243500 : ISOVALERICACIDEMIA; IVA *243600 : JEJUNAL ATRESIA *243800 : JOHANSON-BLIZZARD SYNDROME; JBS *244200 : KALLMANN SYNDROME 3; KAL3 *244400 : KARTAGENER SYNDROME *244450 : KAUFMAN OCULOCEREBROFACIAL SYNDROME *244460 : KENNY-CAFFEY SYNDROME, TYPE 1; KCS *245000 : PAPILLON-LEFEVRE SYNDROME; PALS *245010 : KERATOSIS PALMOPLANTARIS WITH PERIODONTOPATHIA AND ONYCHOGRYPOSIS *245050 : 3-@OXOACID CoA TRANSFERASE; OXCT *245100 : KETOACIDURIA WITH MENTAL DEFICIENCY AND OTHER FEATURES *245200 : KRABBE DISEASE *245349 : PYRUVATE DEHYDROGENASE COMPLEX, COMPONENT X *245400 : LACTIC ACIDOSIS, CONGENITAL INFANTILE *245480 : LACTOFERRIN-DEFICIENT NEUTROPHILS *245600 : LARSEN SYNDROME, RECESSIVE *245660 : LARYNGOONYCHOCUTANEOUS SYNDROME; LOCS *245800 : LAURENCE-MOON SYNDROME *245900 : LECITHIN:CHOLESTEROL ACYLTRANSFERASE DEFICIENCY *246000 : LEG, ABSENCE DEFORMITY OF, WITH CONGENITAL CATARACT *246400 : LETTERER-SIWE DISEASE *246450 : 3-@HYDROXY-3-METHYLGLUTARYL-COENZYME A LYASE DEFICIENCY *246530 : LEUKOTRIENE C4 SYNTHASE; LTC4S *246600 : LIPASE, CONGENITAL ABSENCE OF PANCREATIC *246700 : LIPID TRANSPORT DEFECT OF INTESTINE *246800 : LIPIDOSIS, JUVENILE DYSTONIC *246900 : LIPOAMIDE DEHYDROGENASE DEFICIENCY, LACTIC ACIDOSIS DUE TO *247100 : LIPOID PROTEINOSIS OF URBACH AND WIETHE *247800 : LYMPHOPENIC HYPERGAMMAGLOBULINEMIA, ANTIBODY DEFICIENCY, AUTOIMMUNE HEMOLYTIC ANEMIA, AND GLOMERULONEPHRITIS *247980 : LIPASE B, LYSOSOMAL ACID; LIPB *248300 : MAL DE MELEDA *248310 : MALARIA, INTENSITY OF INFECTION IN *248360 : MALONYL CoA DECARBOXYLASE DEFICIENCY *248370 : MANDIBULOACRAL DYSPLASIA; MAD *248500 : MANNOSIDOSIS, ALPHA B, LYSOSOMAL *248510 : MANNOSIDOSIS, BETA; MANB1 *248600 : MAPLE SYRUP URINE DISEASE, TYPE IA *248610 : MAPLE SYRUP URINE DISEASE, TYPE II *248611 : MAPLE SYRUP URINE DISEASE, TYPE IB *248700 : MARDEN-WALKER SYNDROME *248800 : MARINESCO-SJOGREN SYNDROME; MSS *248900 : MAST SYNDROME *249000 : MECKEL SYNDROME; MKS *249100 : MEDITERRANEAN FEVER, FAMILIAL; MEFV *249210 : MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME *249310 : MEGALOCORNEA-MENTAL RETARDATION SYNDROME *249620 : MENTAL RETARDATION, CONGENITAL HEART DISEASE, BLEPHAROPHIMOSIS, BLEPHAROPTOSIS, AND HYPOPLASTIC TEETH *249650 : MERCAPTOLACTATE-CYSTEINE DISULFIDURIA; MCDU *250100 : METACHROMATIC LEUKODYSTROPHY *250250 : CARTILAGE-HAIR HYPOPLASIA; CHH *250600 : METATROPIC DWARFISM *250620 : METHACRYLICACIDURIA *250790 : METHEMOGLOBINEMIA DUE TO DEFICIENCY OF CYTOCHROME b5 *250800 : METHEMOGLOBINEMIA DUE TO DEFICIENCY OF METHEMOGLOBIN REDUCTASE *250850 : METHIONINE ADENOSYLTRANSFERASE DEFICIENCY *250900 : METHIONINE MALABSORPTION SYNDROME *250950 : 3-@METHYLGLUTACONICACIDURIA *251000 : METHYLMALONICACIDURIA DUE TO METHYLMALONIC CoA MUTASE DEFICIENCY *251100 : METHYLMALONICACIDURIA, VITAMIN B12-RESPONSIVE, DUE TO DEFECT IN SYNTHESIS OF ADENOSYLCOBALAMINcbl A *251110 : METHYLMALONICACIDURIA, VITAMIN B12-RESPONSIVE, DUE TO DEFECT IN SYNTHESIS OF ADENOSYLCOBALAMINcbl B *251170 : MEVALONATE KINASE; MVK *251200 : MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE 1; MCPH1 *251230 : MICROCEPHALY-MICROMELIA SYNDROME *251270 : MICROCEPHALY WITH CHORIORETINOPATHY *251300 : MICROCEPHALY, HIATUS HERNIA, AND NEPHROTIC SYNDROME *251450 : MICROMELIC DWARFISM WITH VERTEBRAL AND METAPHYSEAL ABNORMALITIES AND ADVANCED CARPOTARSAL OSSIFICATION *251500 : MICROPHTHALMIA AND MENTAL DEFICIENCY *251600 : MICROPHTHALMOS, AUTOSOMAL RECESSIVE *251800 : MICROTIA WITH MEATAL ATRESIA AND CONDUCTIVE DEAFNESS *251850 : MICROVILLUS INCLUSION DISEASE *252100 : MOHR SYNDROME *252350 : MOYAMOYA DISEASE *252500 : MUCOLIPIDOSIS II *252600 : MUCOLIPIDOSIS III *252605 : MUCOLIPIDOSIS III, VARIANT FORM *252650 : MUCOLIPIDOSIS IV *252800 : MUCOPOLYSACCHARIDOSIS TYPE I *252900 : MUCOPOLYSACCHARIDOSIS TYPE IIIA *252920 : MUCOPOLYSACCHARIDOSIS TYPE IIIB *252930 : MUCOPOLYSACCHARIDOSIS TYPE IIIC *252940 : MUCOPOLYSACCHARIDOSIS TYPE IIID *253000 : MUCOPOLYSACCHARIDOSIS TYPE IVA *253200 : MUCOPOLYSACCHARIDOSIS TYPE VI *253220 : MUCOPOLYSACCHARIDOSIS TYPE VII *253240 : MUCUS INSPISSATION OF RESPIRATORY TRACT *253250 : MULIBREY NANISM; MUL *253260 : BIOTINIDASE; BTD *253270 : MULTIPLE CARBOXYLASE DEFICIENCY, BIOTIN-RESPONSIVE; MCD *253280 : MUSCLE-EYE-BRAIN DISEASE; MEB *253290 : MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE *253310 : LETHAL CONGENITAL CONTRACTURE SYNDROME *253700 : MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C; LGMD2C *253800 : FUKUYAMA CONGENITAL MUSCULAR DYSTROPHY; FCMD *253900 : MUSCULAR DYSTROPHY, CONGENITAL, PRODUCING ARTHROGRYPOSIS *254110 : MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2H *254150 : MUSK, INABILITY TO SMELL *254210 : MYASTHENIA GRAVIS, FAMILIAL INFANTILE; FIMG *254600 : MYELOPEROXIDASE DEFICIENCY *254770 : MYOCLONIC EPILEPSY, JUVENILE; EJM1 *254780 : EPILEPSY, PROGRESSIVE MYOCLONIC 2; EPM2A *254900 : MYOCLONUS-NEPHROPATHY SYNDROME *255125 : MYOPATHY WITH DEFICIENCY OF SUCCINATE DEHYDROGENASE AND ACONITASE *255300 : MYOPATHY, CONGENITAL *255320 : MYOPATHY, CONGENITAL MULTICORE, WITH EXTERNAL OPHTHALMOPLEGIA *255800 : SCHWARTZ-JAMPEL SYNDROME; SJS *255960 : MYXOMA, INTRACARDIAC *256100 : NEPHRONOPHTHISIS, FAMILIAL JUVENILE 1; NPHP1 *256500 : NETHERTON DISEASE *256520 : NEU-LAXOVA SYNDROME; NLS *256540 : NEURAMINIDASE DEFICIENCY WITH BETA-GALACTOSIDASE DEFICIENCY *256550 : NEURAMINIDASE DEFICIENCY *256600 : NEUROAXONAL DYSTROPHY, INFANTILE *256700 : NEUROBLASTOMA *256710 : NEUROECTODERMAL MELANOLYSOSOMAL DISEASE *256731 : CEROID LIPOFUSCINOSIS, NEURONAL 5; CLN5 *256810 : NEUROPATHY, CONGENITAL SENSORY, WITH NEUROTROPHIC KERATITIS *256850 : NEUROPATHY, GIANT AXONAL; GAN *256855 : NEUROPATHY, HEREDITARY MOTOR AND SENSORY, WITH EXCESSIVE MYELIN FOLDING COMPLEX, AUTOSOMAL RECESSIVE *257150 : NEUTROPHIL ACTIN DYSFUNCTION; NAD *257200 : NIEMANN-PICK DISEASE *257220 : NIEMANN-PICK DISEASE, TYPE C *257270 : NIGHT BLINDNESS WITH HIGH-GRADE MYOPIA *257320 : NORMAN-ROBERTS LISSENCEPHALY SYNDROME *257550 : OCULAR MOTOR APRAXIA *257600 : OCULAR MYOPATHY WITH CURARE SENSITIVITY *257800 : OCULOCEREBRAL SYNDROME WITH HYPOPIGMENTATION *257850 : OCULODENTOOSSEOUS DYSPLASIA, RECESSIVE *257970 : OCULORENOCEREBELLAR SYNDROME *258120 : OHAHA SYNDROME *258150 : OLIGOSYNAPTIC INFERTILITY *258300 : OLIVOPONTOCEREBELLAR ATROPHY II *258360 : ONYCHOTRICHODYSPLASIA AND NEUTROPENIA *258400 : OPHTHALMOPLEGIA TOTALIS WITH PTOSIS AND MIOSIS *258480 : OPSISMODYSPLASIA *258501 : OPTIC ATROPHY 3; OPA3 *258700 : OPTICOCOCHLEODENTATE DEGENERATION *258850 : ORAL-FACIAL-DIGITAL SYNDROME, TYPE III *258870 : ORNITHINE AMINOTRANSFERASE DEFICIENCY *258900 : OROTICACIDURIA I *259250 : OSTEODYSPLASIA, FAMILIAL, ANDERSON TYPE *259450 : BRUCK SYNDROME *259700 : OSTEOPETROSIS, AUTOSOMAL RECESSIVE *259730 : OSTEOPETROSIS WITH RENAL TUBULAR ACIDOSIS *259770 : OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME; OPPG *259780 : OTOONYCHOPERONEAL SYNDROME *259900 : OXALOSIS I *260000 : OXALOSIS II *260005 : 5-@OXOPROLINASE DEFICIENCY *260300 : PALLIDOPYRAMIDAL SYNDROME *260400 : PANCREATIC INSUFFICIENCY AND BONE MARROW DYSFUNCTION *260565 : PEHO SYNDROME *260600 : PELIZAEUS-MERZBACHER DISEASE, ACUTE INFANTILE TYPE *260800 : PENTOSURIA *261000 : PERNICIOUS ANEMIA, CONGENITAL, DUE TO DEFECT OF INTRINSIC FACTOR *261510 : PEROXISOMAL 3-OXOACYL-COENZYME A THIOLASE DEFICIENCY *261515 : PEROXISOMAL BIFUNCTIONAL ENZYME DEFICIENCY *261540 : PETERS ANOMALY WITH SHORT-LIMB DWARFISM *261600 : PHENYLKETONURIA *261630 : PHENYLKETONURIA II *261640 : 6-@PYRUVOYLTETRAHYDROPTERIN SYNTHASE; PTS *261650 : PHOSPHOENOLPYRUVATE CARBOXYKINASE 2, MITOCHONDRIAL; PCK2 *261670 : PHOSPHOGLYCERATE MUTASE, DEFICIENCY OF M SUBUNIT OF *261680 : PHOSPHOENOLPYRUVATE CARBOXYKINASE 1, SOLUBLE; PCK1 *261750 : PHOSPHORYLASE KINASE DEFICIENCY OF LIVER AND MUSCLE *262000 : PILI TORTI AND NERVE DEAFNESS *262300 : ACHROMATOPSIA 3; ACHM3 *262600 : PITUITARY DWARFISM III *262850 : PLASMIN INHIBITOR DEFICIENCY *263000 : PNEUMONITIS, FAMILIAL DESQUAMATIVE INTERSTITIAL; DIP *263200 : POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1; PKHD1 *263210 : POLYCYSTIC KIDNEY DISEASE, POTTER TYPE I, WITH MICROBRACHYCEPHALY, HYPERTELORISM, AND BRACHYMELIA *263400 : ERYTHROCYTOSIS, AUTOSOMAL RECESSIVE BENIGN *263520 : POLYDACTYLY WITH NEONATAL CHONDRODYSTROPHY, TYPE II *263530 : POLYDACTYLY WITH NEONATAL CHONDRODYSTROPHY, TYPE I *263570 : POLYGLUCOSAN BODY DISEASE, ADULT FORM; APBD *263650 : POPLITEAL PTERYGIUM SYNDROME, LETHAL TYPE *263700 : PORPHYRIA, CONGENITAL ERYTHROPOIETIC *263750 : POSTAXIAL ACROFACIAL DYSOSTOSIS; POADS *264080 : PROGESTERONE RESISTANCE; PGR *264090 : PROGEROID SYNDROME, NEONATAL *264270 : PSEUDOHERMAPHRODITISM, FEMALE, WITH SKELETAL ANOMALIES *264300 : PSEUDOHERMAPHRODITISM, MALE, WITH GYNECOMASTIA *264450 : PSEUDOMONGOLISM *264470 : PSEUDONEONATAL ADRENOLEUKODYSTROPHY *264600 : PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS; PPSH *264700 : PSEUDOVITAMIN D DEFICIENCY RICKETS *264800 : PSEUDOXANTHOMA ELASTICUM, AUTOSOMAL RECESSIVE; PXE *264900 : PTA DEFICIENCY *265000 : PTERYGIUM SYNDROME *265100 : PULMONARY ALVEOLAR MICROLITHIASIS *265900 : PYLE DISEASE *265950 : PYLORIC ATRESIA *266100 : PYRIDOXINE DEPENDENCY WITH SEIZURES *266120 : PYRIMIDINE NUCLEOTIDASE DEFICIENCY, HEMOLYTIC ANEMIA FROM *266150 : PYRUVATE CARBOXYLASE DEFICIENCY *266200 : PYRUVATE KINASE DEFICIENCY OF ERYTHROCYTE *266250 : RADICULONEUROPATHY, FATAL NEONATAL *266265 : LEUKOCYTE ADHESION DEFICIENCY, TYPE II *266300 : HAIR COLOR 2; HCL2 *266350 : RED SKIN PIGMENT ANOMALY OF NEW GUINEA *266600 : INFLAMMATORY BOWEL DISEASE 1; IBD1 *266900 : RENAL DYSPLASIA AND RETINAL APLASIA *267000 : RENAL HAMARTOMAS, NEPHROBLASTOMATOSIS, AND FETAL GIGANTISM *267430 : RENAL TUBULAR DYSGENESIS *267500 : RETICULAR DYSGENESIA *267750 : KNOBLOCH SYNDROME; KNO *268080 : RETINOSCHISIS OF FOVEA *268100 : RETINOSCHISIS WITH EARLY HEMERALOPIA *268200 : RHABDOMYOLYSIS, ACUTE RECURRENT *268300 : ROBERTS SYNDROME; RBS *268310 : ROBINOW SYNDROME, RECESSIVE FORM *268800 : SANDHOFF DISEASE *268900 : SARCOSINEMIA *269250 : SCHNECKENBECKEN DYSPLASIA *269500 : SCLEROSTEOSIS *269700 : BERARDINELLI-SEIP CONGENITAL LIPODYSDROPHY; BSCL *269860 : SHORT RIB SYNDROME, BEEMER TYPE *269920 : SIALIC ACID STORAGE DISEASE; SIASD *270100 : SITUS INVERSUS VISCERUM *270200 : SJOGREN-LARSSON SYNDROME *270300 : SKIN PEELING, FAMILIAL CONTINUOUS *270550 : SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE; SACS *270600 : SPASTIC DIPLEGIA, INFANTILE TYPE *270685 : SPASTIC PARAPARESIS WITH AMYOTROPHY OF HANDS AND FEET *270700 : SPASTIC PARAPLEGIA AND RETINAL DEGENERATION *270800 : SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE; SPG5A *271245 : INFANTILE-ONSET SPINOCEREBELLAR ATAXIA; IOSCA *271400 : SPLENIC HYPOPLASIA *271550 : SPONDYLOENCHONDRODYSPLASIA *271600 : SPONDYLOEPIPHYSEAL DYSPLASIA TARDA *271630 : SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, TOLEDO TYPE *271640 : SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY; SEMDJL *271650 : SPONDYLOEPIMETAPHYSEAL DYSPLASIA, IRAPA TYPE; SEMDIT *271900 : CANAVAN DISEASE *271980 : ALDEHYDE DEHYDROGENASE 5 FAMILY, MEMBER A1; ALDH5A1 *272200 : MULTIPLE SULFATASE DEFICIENCY *272300 : SULFOCYSTEINURIA *272370 : SUSCEPTIBILITY TO LYSIS BY ALLOREACTIVE NATURAL KILLER CELLS; EC1 *272460 : SYNSPONDYLISM, CONGENITAL *272650 : TATSUMI FACTOR DEFICIENCY *272750 : TAY-SACHS DISEASE, AB VARIANT *272800 : TAY-SACHS DISEASE; TSD *273300 : TESTICULAR TUMORS *273395 : TETRA-AMELIA WITH PULMONARY HYPOPLASIA *273750 : THREE M SYNDROME *273800 : THROMBASTHENIA OF GLANZMANN AND NAEGELI *273900 : THROMBOCYTOPENIA *274000 : THROMBOCYTOPENIAABSENT RADIUS SYNDROME *274150 : THROMBOTIC THROMBOCYTOPENIC PURPURA, FAMILIAL *274180 : THROMBOXANE A SYNTHASE 1; TBXAS1 *274190 : THUMB AGENESIS, DWARFISM, AND IMMUNODEFICIENCY *274270 : DIHYDROPYRIMIDINE DEHYDROGENASE; DPYD *274500 : THYROID HORMONOGENESIS, GENETIC DEFECT IN, IIA *274600 : PENDRED SYNDROME; PDS *274700 : THYROID HORMONOGENESIS, GENETIC DEFECT IN, III *274800 : THYROID HORMONOGENESIS, GENETIC DEFECT IN, IV *275120 : THYROTROPIN-RELEASING HORMONE DEFICIENCY *275210 : TIGHT SKIN CONTRACTURE SYNDROME, LETHAL *275250 : TONGUE, PIGMENTED FUNGIFORM PAPILLAE OF *275350 : TRANSCOBALAMIN II DEFICIENCY *275355 : TRANSFORMING GROWTH FACTOR, BETA-1 RESPONSE ELEMENT *275360 : TREHALASE *275370 : TRICARBOXYLIC ACID CYCLE, DEFECT OF *275630 : TRIGLYCERIDE STORAGE DISEASE WITH IMPAIRED LONG-CHAIN FATTY ACID OXIDATION *275900 : TROYER SYNDROME *276000 : PROTEASE, SERINE, 1; PRSS1 *276100 : TRYPTOPHANURIA WITH DWARFISM *276600 : TYROSINE TRANSAMINASE DEFICIENCY *276700 : TYROSINEMIA, TYPE I *276710 : TYROSINEMIA, TYPE III *276820 : ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY *276900 : USHER SYNDROME, TYPE IA; USH1A *276901 : USHER SYNDROME, TYPE IIA; USH2A *276902 : USHER SYNDROME, TYPE III; USH3 *276903 : MYOSIN VIIA; MYO7A *276904 : USHER SYNDROME, TYPE IC; USH1C *276905 : USHER SYNDROME, TYPE IIB; USH2B *277100 : VALINEMIA *277150 : VAN BOGAERT-HOZAY SYNDROME *277170 : VARADI-PAPP SYNDROME *277300 : SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE, 1 *277320 : VISCERAL MYOPATHY, FAMILIAL, WITH EXTERNAL OPHTHALMOPLEGIA *277350 : VITAMIN A METABOLIC DEFECT *277400 : VITAMIN B12 METABOLIC DEFECT WITH METHYLMALONICACIDEMIA AND HOMOCYSTINURIA *277410 : VITAMIN B12 METABOLIC DEFECT, TYPE 2 *277470 : VOLENDAM NEURODEGENERATIVE DISEASE *277600 : WEILL-MARCHESANI SYNDROME *277700 : WERNER SYNDROME; WRN *277730 : WERNICKE-KORSAKOFF SYNDROME *277900 : WILSON DISEASE *277950 : WINCHESTER DISEASE *278000 : WOLMAN DISEASE *278250 : WRINKLY SKIN SYNDROME; WSS *278300 : XANTHINURIA, TYPE I *278700 : XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A; XPA *278720 : XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C; XPC *278740 : XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E | |
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