| 200110 : ABLEPHARON-MACROSTOMIA SYNDROME 200130 : ABSENT EYEBROWS AND EYELASHES WITH MENTAL RETARDATION 200170 : ACANTHOSIS NIGRICANS WITH MUSCLE CRAMPS AND ACRAL ENLARGEMENT 200300 : ACETOPHENETIDIN SENSITIVITY 200440 : ACHALASIA-ALACRIMIA SYNDROME 200450 : ACHALASIA-MICROCEPHALY SYNDROME 200710 : ACHONDROGENESIS, TYPE III 200720 : ACHONDROGENESIS, TYPE IV 200900 : ACHONDROPLASIA, SO-CALLED, AND SWISS-TYPE AGAMMAGLOBULINEMIA 200930 : ACHROMATOPSIA, INCOMPLETE, WITH PROTAN LUMINOSITY FUNCTION 200970 : ACKERMAN SYNDROME 200980 : ACRAL-RENAL-MANDIBULAR SYNDROME 200995 : ACROCEPHALOPOLYDACTYLOUS DYSPLASIA 201020 : ACROCEPHALOPOLYSYNDACTYLY TYPE IV 201050 : ACROCRANIOFACIAL DYSOSTOSIS 201170 : ACROFACIAL DYSOSTOSIS SYNDROME OF RODRIGUEZ 201180 : ACROFRONTOFACIONASAL DYSOSTOSIS SYNDROME 201181 : ACROFRONTOFACIONASAL DYSOSTOSIS, SEVERE 201200 : ACROGERIA 201310 : ACRORENAL SYNDROME, AUTOSOMAL RECESSIVE 201750 : ADRENAL HYPERPLASIA, CONGENITAL, DUE TO DEFECTS IN SEVERAL STEROID-BIOSYNTHETIC ENZYMES 202150 : ADRENAL HYPOPLASIA, CONGENITAL, WITH ABSENT PITUITARY LUTEINIZING HORMONE 202155 : ADRENAL HYPOPLASIA, CYTOMEGALIC TYPE 202355 : ADRENOCORTICAL UNRESPONSIVENESS TO ACTH WITH POSTRECEPTOR DEFECT 202550 : AGANGLIONOSIS, TOTAL INTESTINAL 202600 : AGENESIS OF CEREBRAL WHITE MATTER 202650 : AGNATHIA-HOLOPROSENCEPHALY 202660 : AGONADISM WITH MULTIPLE INTERNAL MALFORMATIONS 202900 : ALANINURIA WITH MICROCEPHALY, DWARFISM, ENAMEL HYPOPLASIA, AND DIABETES MELLITUS 203000 : FRONTONASAL DYSPLASIA WITH ALAR CLEFTS 203280 : ALBINISM, MINIMAL PIGMENT TYPE 203285 : ALBINISM WITH IMMUNE AND HEMATOLOGIC DEFECTS 203330 : ALBRIGHT HEREDITARY OSTEODYSTROPHY; AHO 203340 : ALBINISM-MICROCEPHALY-DIGITAL ANOMALIES SYNDROME 203400 : ALDOSTERONE DEFICIENCY DUE TO DEFECT IN 18-HYDROXYLASE 203550 : ALOPECIA-CONTRACTURES-DWARFISM MENTAL RETARDATION SYNDROME 203600 : ALOPECIA-EPILEPSY-OLIGOPHRENIA SYNDROME OF MOYNAHAN 203760 : ALPHA-2-DEFICIENT COLLAGEN DISEASE 204110 : AMAUROSIS CONGENITA, CONE-ROD TYPE, WITH CONGENITAL HYPERTRICHOSIS 204650 : AMELOGENESIS IMPERFECTA, LOCAL HYPOPLASTIC TYPE, RECESSIVE 204690 : AMELOGENESIS IMPERFECTA AND NEPHROCALCINOSIS 204730 : AMINOACIDURIA WITH MENTAL DEFICIENCY, DWARFISM, MUSCULAR DYSTROPHY, OSTEOPOROSIS, AND ACIDOSIS 204750 : AMINOADIPICACIDURIA 204850 : AMYLOIDOSIS OF GINGIVA AND CONJUNCTIVA, WITH MENTAL RETARDATION 204900 : AMYLOIDOSIS, CUTANEOUS BULLOUS 205250 : AMYOTROPHIC LATERAL SCLEROSIS WITH POLYGLUCOSAN BODIES 205600 : ANEMIA AND TRIPHALANGEAL THUMBS 205700 : ANEMIA, AUTOIMMUNE HEMOLYTIC 205950 : ANEMIA, CONGENITAL SIDEROBLASTIC, B6-NONRESPONSIVE 206000 : ANEMIA, FAMILIAL PYRIDOXINE-RESPONSIVE 206100 : ANEMIA, HYPOCHROMIC MICROCYTIC 206200 : ANEMIA, MICROCYTIC 206300 : ANEMIA, NONSPHEROCYTIC HEMOLYTIC, ASSOCIATED WITH ABNORMALITY OF RED CELL MEMBRANE 206400 : ANEMIA, NONSPHEROCYTIC HEMOLYTIC, POSSIBLY DUE TO DEFECT IN PORPHYRIN METABOLISM 206550 : ANGIOLIPOMATOSIS, FAMILIAL 206600 : ANHIDROSIS 206750 : ANIRIDIA, PARTIAL, WITH UNILATERAL RENAL AGENESIS AND PSYCHOMOTOR RETARDATION 207000 : ANOSMIA FOR ISOBUTYRIC ACID 207300 : ANTITHROMBIN, FAMILIAL HEMORRHAGIC DIATHESIS DUE TO 207500 : ANUS, IMPERFORATE 207600 : TAKAYASU ARTERITIS 207620 : APHALANGY WITH HEMIVERTEBRAE 207700 : APLASIA CUTIS CONGENITA; ACC 207720 : APNEA, CENTRAL SLEEP 207731 : APLASIA CUTIS CONGENITA WITH INTESTINAL LYMPHANGIECTASIA 207740 : APLASIA OF EXTENSOR MUSCLES OF FINGERS, UNILATERAL, WITH GENERALIZED POLYNEUROPATHY 207765 : APPARENT MINERALOCORTICOID EXCESS, TYPE 2; AME2 207770 : APROSENCEPHALY SYNDROME 207780 : AREDYLD 207790 : ARACHNOID CYSTS, INTRACRANIAL 207950 : ARNOLD-CHIARI MALFORMATION 208050 : ARTERIAL TORTUOSITY 208080 : ARTHROGRYPOSIS, DISTAL, WITH HYPOPITUITARISM, MENTAL RETARDATION, AND FACIAL ANOMALIES 208081 : ARTHROGRYPOSIS, DISTAL, WITH MENTAL RETARDATION AND CHARACTERISTIC FACIES 208085 : ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 208155 : ARTHROGRYPOSIS MULTIPLEX CONGENITA WITH WHISTLING FACE 208158 : ARTHROGRYPOSIS WITH HYPERKERATOSIS 208300 : ASCITES, CHYLOUS 208530 : ASPLENIA WITH CARDIOVASCULAR ANOMALIES 208540 : ASPLENIA WITH CYSTIC LIVER, KIDNEY AND PANCREAS 208550 : ASTHMA, NASAL POLYPS, ASPIRIN INTOLERANCE 208600 : ASTHMA, SHORT STATURE, AND ELEVATED IgA 208700 : ATAXIA WITH MYOCLONIC EPILEPSY AND PRESENILE DEMENTIA 208850 : ATAXIA-DEAFNESS-RETARDATION SYNDROME 208870 : ATAXIA-MICROCEPHALY-CATARACT SYNDROME 208910 : ATAXIA-TELANGIECTASIA WITH GENERALIZED SKIN PIGMENTATION AND EARLY DEATH 208920 : ATAXIA-TELANGIECTASIA-LIKE SYNDROME 209000 : ATAXIC DIPLEGIA WITH DEFECTIVE CELLULAR IMMUNITY 209010 : ATHEROSCLEROSIS, PREMATURE, WITH DEAFNESS, NEPHROPATHY, DIABETES MELLITUS, PHOTOMYOCLONUS, AND DEGENERATIVE NEUROLOGIC DISEASE 209050 : ATHROMBIA, ESSENTIAL 209300 : ATRANSFERRINEMIA 209600 : ATRIOVENTRICULAR DISSOCIATION 209700 : ATROPHODERMIA VERMICULATA 209770 : AURAL ATRESIA, MULTIPLE CONGENITAL ANOMALIES, AND MENTAL RETARDATION 209800 : AUSTRALIA ANTIGEN 209850 : AUTISTIC DISORDER 209885 : BARBER-SAY SYNDROME 209970 : BEEMER LETHAL MALFORMATION SYNDROME 210000 : BEHR SYNDROME 210050 : BERRY ANEURYSM, CIRRHOSIS, PULMONARY EMPHYSEMA, AND CEREBRAL CALCIFICATION 210210 : BETA-METHYLCROTONYLGLYCINURIA II 210300 : BIEMOND CONGENITAL AND FAMILIAL ANALGESIA 210350 : BIEMOND SYNDROME II 210400 : BIFID NOSE 210450 : BILE ACID, SYNTHETIC DEFECT OF 210500 : BILIARY ATRESIA, EXTRAHEPATIC; EHBA 210550 : BILIARY MALFORMATION WITH RENAL TUBULAR INSUFFICIENCY 210700 : BIRD-HEADED DWARFISM, MONTREAL TYPE 210740 : BIRD-HEADED DWARFISM WITH PROGRESSIVE ATAXIA, INSULIN-RESISTANT DIABETES, GOITER, AND PRIMARY GONADAL INSUFFICIENCY 210745 : BLEPHAROPHIMOSIS WITH PTOSIS, SYNDACTYLY, AND SHORT STATURE 210750 : BLOND HAIR 211000 : BLUE DIAPER SYNDROME 211120 : BONE DYSPLASIA, LETHAL, HOLMGREN TYPE 211170 : BORRONE DERMATOCARDIOSKELETAL SYNDROME 211200 : BOWEN SYNDROME OF MULTIPLE MALFORMATIONS 211355 : BOWING OF LONG BONES, ASYMMETRIC AND SYMMETRIC 211369 : BRACHYDACTYLY, TYPE A2, WITH MICROCEPHALY 211370 : BRACHYMETAPODY-ANODONTIA-HYPOTRICHOSIS-ALBINOIDISM 211380 : BRACHIOSKELETOGENITAL SYNDROME 211400 : BRONCHIECTASIS 211450 : BRONCHOMALACIA 211480 : BUERGER DISEASE 211770 : CAHMR SYNDROME 211800 : CALCIFICATION OF JOINTS AND ARTERIES 211910 : CAMPTODACTYLY SYNDROME, GUADALAJARA TYPE I; GCS1 211920 : CAMPTODACTYLY SYNDROME, GUADALAJARA TYPE II 211930 : CAMPTODACTYLY WITH FIBROUS TISSUE HYPERPLASIA AND SKELETAL DYSPLASIA 211965 : CAMPTODACTYLY-ICHTHYOSIS SYNDROME 211980 : CANCER OF LUNG 211990 : CAMPTOMELIC SYNDROME, LONG-LIMB TYPE 212060 : CARBIMAZOLE SENSITIVITY 212067 : CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME, TYPE III 212080 : CARDIAC LIPIDOSIS, FAMILIAL 212090 : CARDIAC SEPTAL DEFECTS WITH COARCTATION OF THE AORTA 212093 : CARDIAC VALVULAR DEFECT, DEVELOPMENTAL 212100 : CARDIOAUDITORY SYNDROME OF SANCHEZ CASCOS 212110 : CARDIOMYOPATHY, CONGESTIVE 212112 : CARDIOMYOPATHY, CONGESTIVE, WITH HYPERGONADOTROPIC HYPOGONADISM 212120 : CARDIOGENITAL SYNDROME 212135 : CARDIOSKELETAL SYNDROME, KUWAITI TYPE 212360 : CATARACT-ALOPECIA-SCLERODACTYLY SYNDROME; CASS 212540 : CATARACT, MICROCEPHALY, FAILURE TO THRIVE, KYPHOSCOLIOSIS SYNDROME 212550 : CATARACT, MICROPHTHALMIA, AND NYSTAGMUS 212600 : CATARACT, NUCLEAR 212700 : CATARACT, NUCLEAR TOTAL 212710 : CATARACT-ATAXIA-DEAFNESS-RETARDATION SYNDROME 212720 : CATARACT-MENTAL RETARDATION-HYPOGONADISM 212750 : CELIAC DISEASE; CD 212790 : CENTROMERE DIVISION, PREMATURE; PCD 212800 : CEPHALIN LIPIDOSIS 212835 : CEREBELLAR ATAXIA AND ECTODERMAL DYSPLASIA 212850 : CEREBELLAR ATAXIA AND NEUROSENSORY DEAFNESS 212890 : CEREBELLAR ATAXIA, BENIGN, WITH THERMOANALGESIA 212900 : CEREBELLAR ATAXIA, INFANTILE, WITH PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA 212905 : CEREBELLAR ATAXIA WITH NEURONAL MIGRATION DEFECT 213002 : CEREBELLAR HYPOPLASIA WITH ENDOSTEAL SCLEROSIS 213010 : CEREBELLAR VERMIS APLASIA WITH ASSOCIATED FEATURES SUGGESTING SMITH-LEMLI-OPITZ SYNDROME AND MECKEL SYNDROME 213400 : CEREBELLOPARENCHYMAL DISORDER V; CPD V 213500 : CEREBRAL ANGIOPATHY, DYSPHORIC 213820 : CEREBRAL MALFORMATION, SEIZURES, HYPERTRICHOSIS, AND OVERLAPPING FINGERS 213900 : CEREBRAL SCLEROSIS SIMILAR TO PELIZAEUS-MERZBACHER DISEASE 213950 : CEREBROCORTICAL DEGENERATION OF INFANCY 214150 : CEREBROOCULOFACIOSKELETAL SYNDROME 214200 : CEROID STORAGE DISEASE 214290 : CERVICAL VERTEBRAE, AGENESIS OF 214300 : CERVICAL VERTEBRAL FUSION, AUTOSOMAL RECESSIVE 214350 : CHANDS 214380 : CHARCOT-MARIE-TOOTH DISEASE, PROGRESSIVE ATAXIA, AND TREMOR 214800 : CHOANAL ATRESIA, POSTERIOR; PCA 214980 : CHOLESTASIS WITH GALLSTONE, ATAXIA, AND VISUAL DISTURBANCE 215030 : CHOLESTEROL PNEUMONIA 215050 : CHONDRODYSPLASIA CALCIFICANS METAPHYSEALIS 215105 : CHONDRODYSPLASIA PUNCTATA SYNDROME 215140 : CHONDRODYSTROPHY, HYDROPIC AND PRENATALLY LETHAL TYPE 215250 : CHONDROITIN-6-SULFATURIA, DEFECTIVE CELLULAR IMMUNITY, NEPHROTIC SYNDROME 215450 : CHOREA, FAMILIAL BENIGN 215480 : CHOROID PLEXUS CALCIFICATION AND MENTAL RETARDATION 215510 : CHROMOSOMAL INSTABILITY WITH TISSUE-SPECIFIC RADIOSENSITIVITY 215518 : CILIARY DISCOORDINATION DUE TO RANDOM CILIARY ORIENTATION 215550 : CIRCUMVALLATE PLACENTA SYNDROME 215600 : CIRRHOSIS, FAMILIAL 215720 : CITRULLINE TRANSPORT DEFECT 215800 : CLEFT LARYNX, POSTERIOR 215850 : CLEFT-LIMB-HEART MALFORMATION SYNDROME 216100 : CLEFT LIP/PALATE WITH ABNORMAL THUMBS AND MICROCEPHALY 216300 : CLEFT PALATE, DEAFNESS, AND OLIGODONTIA 216330 : CLEIDOCRANIAL DYSPLASIA, RECESSIVE FORM 216360 : COACH SYNDROME 216800 : COLOBOMA OF MACULA AND SKELETAL ANOMALIES 216820 : COLOBOMA, OCULAR 216920 : COMBINED INFLAMMATORY AND IMMUNOLOGIC DEFECT 217080 : CONE-ROD DYSTROPHY AND AMELOGENESIS IMPERFECTA 217085 : CONGENITAL HEART DEFECTS, HAMARTOMAS OF TONGUE, AND POLYSYNDACTYLY 217095 : CONOTRUNCAL HEART MALFORMATIONS; CTHM 217100 : CONSTRICTING BANDS, CONGENITAL 217150 : CONTRACTURES, CONGENITAL, TORTICOLLIS, AND MALIGNANT HYPERTHERMIA 217200 : CONVULSIVE DISORDER, FAMILIAL, WITH PRENATAL OR EARLY ONSET 217520 : CORNEAL DEGENERATION, BAND-SHAPED SPHEROID 217600 : CORNEAL DYSTROPHY, CENTRAL TYPE 217980 : CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND ROBIN SEQUENCE 217990 : CORPUS CALLOSUM, AGENESIS OF; ACC 218010 : CORTICAL BLINDNESS, RETARDATION AND POSTAXIAL POLYDACTYLY 218050 : CRAMPS, FAMILIAL ADOLESCENT 218090 : CRANE-HEISE SYNDROME 218200 : CRANIAL NERVES, RECURRENT PARESIS OF 218300 : CRANIODIAPHYSEAL DYSPLASIA; CDD 218340 : CRANIOFACIAL DYSMORPHISM WITH OCULAR COLOBOMA, ABSENT CORPUS CALLOSUM, AND AORTIC DILATATION 218350 : CRANIOFACIAL DYSSYNOSTOSIS WITH SHORT STATURE 218450 : CRANIOSTENOSIS, SAGITTAL, WITH CONGENITAL HEART DISEASE, MENTAL DEFICIENCY, AND MANDIBULAR ANKYLOSIS 218455 : CRANIOSTENOSIS-MICROCEPHALY WITH CHROMOSOMAL BREAKAGE AND OTHER ABNORMALITIES 218500 : CRANIOSYNOSTOSIS 218530 : CRANIOSYNOSTOSIS WITH ANOMALIES OF THE CRANIAL BASE AND DIGITS 218550 : CRANIOSYNOSTOSIS WITH FIBULAR APLASIA 218600 : CRANIOSYNOSTOSIS WITH RADIAL DEFECTS 218649 : CRANIOSYNOSTOSIS-MENTAL RETARDATION SYNDROME OF LIN AND GETTIG 218650 : CRANIOSYNOSTOSIS-MENTAL RETARDATION-CLEFTING SYNDROME 218670 : CRANIOTELENCEPHALIC DYSPLASIA 219050 : CRYPTORCHIDISM, UNILATERAL OR BILATERAL 219070 : CURVED NAIL OF FOURTH TOE 219080 : CUSHING DISEASE, ADRENAL 219090 : CUSHING DISEASE, PITUITARY 219095 : CUTANEOUS PHOTOSENSITIVITY AND COLITIS, LETHAL 219250 : CUTIS MARMORATA TELANGIECTATICA CONGENITA; CMTC 219300 : CUTIS VERTICIS GYRATA AND MENTAL DEFICIENCY; CVG/MR 219400 : CYANOSIS AND HEPATIC DISEASE 219550 : CYSTEINE PEPTIDURIA 219600 : CYSTIC DISEASE OF LUNG 219721 : CYSTIC FIBROSIS WITH HELICOBACTER PYLORI GASTRITIS, MEGALOBLASTIC ANEMIA, AND SUBNORMAL MENTALITY 219730 : CYSTIC KIDNEY DISEASE WITH VENTRICULOMEGALY 220200 : DANDY-WALKER SYNDROME; DWS 220219 : DANDY-WALKER MALFORMATION WITH MENTAL RETARDATION, MACROCEPHALY, MYOPIA, AND BRACHYTELEPHALANGY 220220 : DANDY-WALKER MALFORMATION WITH POSTAXIAL POLYDACTYLY 220300 : DEAFNESS, CONGENITAL, AND FAMILIAL MYOCLONIC EPILEPSY 220600 : DEAFNESS, CONGENITAL, AND SPLIT HANDS AND FEET 220900 : DEAFNESS, CONGENITAL, WITH TOTAL ALBINISM 221000 : DEAFNESS, CONGENITAL, SEMILETHAL 221200 : DEAFNESS, COCHLEAR, WITH MYOPIA AND INTELLECTUAL IMPAIRMENT 221320 : DEAFNESS, CONDUCTIVE, WITH PTOSIS AND SKELETAL ANOMALIES 221400 : DEAFNESS, NERVE TYPE, WITH MESENTERIC DIVERTICULA OF SMALL BOWEL AND PROGRESSIVE SENSORY NEUROPATHY 221500 : DEAFNESS, NEURAL, CONGENITAL MODERATE 221600 : DEAFNESS, NEURAL, EARLY ONSET 221700 : DEAFNESS, NEURAL, WITH ATYPICAL ATOPIC DERMATITIS 221740 : DEAFNESS-OLIGODONTIA SYNDROME 221745 : DEAFNESS, SENSORINEURAL, AUTOSOMAL-MITOCHONDRIAL TYPE 221750 : DEAFNESS, SENSORINEURAL, WITH PITUITARY DWARFISM 221760 : DERMATOGLYPHICSPALMAR TRIRADIUS d, ABSENCE OF 221780 : DERMATOGLYPHICSHYPOTHENAR RADIAL ARCH 221790 : DERMATOLEUKODYSTROPHY 221810 : DERMATOOSTEOLYSIS, KIRGHIZIAN TYPE 221820 : GLIOSIS, FAMILIAL PROGRESSIVE SUBCORTICAL 221950 : DEXTROCARDIA WITH UNUSUAL FACIES AND MICROPHTHALMIA 221995 : DIABETES INSIPIDUS, NEPHROGENIC, WITH MENTAL RETARDATION AND INTRACEREBRAL CALCIFICATION 222350 : DIAMINOPENTANURIA 222400 : DIAPHRAGM, UNILATERAL AGENESIS OF 222448 : DIAPHRAGMATIC HERNIA, EXOMPHALOS, ABSENT CORPUS CALLOSUM, HYPERTELORISM, MYOPIA, AND SENSORINEURAL DEAFNESS 222470 : DIARRHEA, FATAL INFANTILE, WITH ABNORMAL HAIR 222500 : DIASTEMATOMYELIA 222730 : DICARBOXYLICAMINOACIDURIA 222760 : DIGITORENOCEREBRAL SYNDROME 223200 : DISORGANIZATION, MOUSE, HOMOLOG OF 223300 : DISSEMINATED SCLEROSIS WITH NARCOLEPSY 223320 : DIVERTICULOSIS, SMALL-INTESTINAL 223330 : DIVERTICULOSIS OF BOWEL, HERNIA, AND RETINAL DETACHMENT 223340 : DKPHOCOMELIA SYNDROME 223350 : DOHLE BODIES AND LEUKEMIA 223380 : DOPAMINE BETA-HYDROXYLASE, PLASMA, THERMOLABILITY 223400 : DUODENAL ATRESIA 223500 : DWARFISM, LOW-BIRTH-WEIGHT TYPE, WITH UNRESPONSIVENESS TO GROWTH HORMONE 223540 : DWARFISM, MENTAL RETARDATION, AND EYE ABNORMALITY 223550 : DWARFISM, PROPORTIONATE, WITH HIP DISLOCATION 223600 : DWARFISM, LEVI TYPE 223610 : DWARFISM, SHORT-LIMB, WITH ABSENT FIBULAS AND VERY SHORT DIGITS 224000 : DYSAUTONOMIA-LIKE DISORDER 224200 : DYSGENESIS MESODERMALIS CORNEAE ET SCLERAE 224230 : DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 224250 : DYSMYELINATION WITH JAUNDICE 224400 : DYSSEGMENTAL DWARFISM 224410 : DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE 224550 : DYSTONIA WITH RINGBINDEN 224570 : DYSTONIA, FAMILIAL, WITH VISUAL FAILURE AND STRIATAL LUCENCIES 224600 : DYSTONIA, PERIODIC KINESIGENIC 224700 : EBSTEIN ANOMALY 224800 : ECTODERMAL DYSPLASIA AND NEUROSENSORY DEAFNESS 225040 : ECTODERMAL DYSPLASIA, HYPOHIDROTIC, WITH HYPOTHYROIDISM AND AGENESIS OF THE CORPUS CALLOSUM 225050 : ECTODERMAL DYSPLASIA, HYPOHIDROTIC, WITH HYPOTHYROIDISM AND CILIARY DYSKINESIA 225100 : ECTOPIA LENTIS 225290 : ECTRODACTYLY-POLYDACTYLY 225300 : ECTRODACTYLY 225310 : EHLERS-DANLOS SYNDROME WITH PLATELET DYSFUNCTION FROM FIBRONECTIN ABNORMALITY 225320 : EHLERS-DANLOS SYNDROME, AUTOSOMAL RECESSIVE, TYPE UNSPECIFIED 225350 : EHLERS-DANLOS SYNDROME, TYPE IV, AUTOSOMAL RECESSIVE; EDS4 225360 : EHLERS-DANLOS SYNDROME, TYPE IV-D 225450 : ELLIPTOCYTOSIS, ATYPICAL 225700 : ENCEPHALOMALACIA, MULTILOCULAR 225740 : ENCEPHALOPATHY, AXONAL, WITH NECROTIZING MYOPATHY, CARDIOMYOPATHY, AND CATARACTS 225753 : ENCEPHALOPATHY, FATAL INFANTILE, WITH OLIVOPONTOCEREBELLAR HYPOPLASIA 225755 : ENCEPHALOPATHY WITH INTRACRANIAL CALCIFICATION, GROWTH HORMONE DEFICIENCY, MICROCEPHALY, AND RETINAL DEGENERATION 225795 : ENCHONDROMATOSIS, GENERALIZED 226000 : ENDOCARDIAL FIBROELASTOSIS; EFE 226100 : ENDOCARDIAL FIBROELASTOSIS AND COARCTATION OF ABDOMINAL AORTA 226110 : ENDOTHELIAL DYSTROPHY, CONGENITAL HEREDITARY, WITH NAIL HYPOPLASIA 226150 : ENTEROCOLITIS 226350 : EOSINOPHILIC FASCIITIS 226400 : EPIDERMODYSPLASIA VERRUCIFORMIS 226440 : EPIDERMOLYSIS BULLOSA, LATE-ONSET LOCALIZED JUNCTIONAL, WITH MENTAL RETARDATION 226735 : EPIDERMOLYSIS BULLOSA WITH DIAPHRAGMATIC HERNIA 226800 : EPILEPSY, PHOTOGENIC, WITH SPASTIC DIPLEGIA AND MENTAL RETARDATION 226810 : EPILEPSY WITH BILATERAL OCCIPITAL CALCIFICATIONS 226850 : EPILEPSY-TELANGIECTASIA 226950 : EPIPHYSEAL DYSPLASIA OF FEMORAL HEAD, MYOPIA, AND DEAFNESS 226985 : EPITHELIAL SQUAMOUS DYSPLASIA, KERATINIZING DESQUAMATIVE, OF URINARY TRACT 226990 : EPSTEIN-BARR VIRUS, SUSCEPTIBILITY TO CHRONIC INFECTION BY 227000 : ERYTHEMA OF ACRAL REGIONS 227010 : ERMINE PHENOTYPE 227050 : ERYTHROBLASTOPENIA, TRANSIENT 227100 : ERYTHRODERMA DESQUAMATIVA OF LEINER 227200 : EUNUCHOIDISM, FAMILIAL HYPOGONADOTROPHIC 227210 : EYEBROWS, DUPLICATION OF, WITH STRETCHABLE SKIN AND SYNDACTYLY 227250 : FACIAL ABNORMALITIES, KYPHOSCOLIOSIS, AND MENTAL RETARDATION 227255 : FACIAL DYSMORPHISM WITH MULTIPLE MALFORMATIONS 227270 : FACIOCARDIOMELIC DYSPLASIA, LETHAL 227280 : FACIOCARDIORENAL SYNDROME 227290 : FACIOOCULOACOUSTICORENAL SYNDROME 227310 : FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, WITH NORMAL PROTEIN C AND PROTEIN C INHIBITOR 227320 : FACIOTHORACOGENITAL SYNDROME 227700 : FANCONI RENOTUBULAR SYNDROME I 227800 : FANCONI RENOTUBULAR SYNDROME II 227850 : FANCONI-LIKE SYNDROME 228020 : FASCIAL DYSTROPHY, CONGENITAL 228200 : FEMUR-FIBULA-ULNA SYNDROME 228300 : FERTILE EUNUCH 228355 : FETAL IODINE DEFICIENCY DISORDER; FIDD 228400 : FEVER, FAMILIAL LIFELONG PERSISTENT 228550 : FIBROMATOSIS, CONGENITAL GENERALIZED; CGF 228560 : FIBROMATOSIS, GINGIVAL, WITH DISTINCTIVE FACIES 228800 : FIBROSCLEROSIS, MULTIFOCAL 228930 : FIBULAR APLASIA OR HYPOPLASIA, FEMORAL BOWING AND POLY-, SYN-, AND OLIGODACTYLY 228940 : FIBULOULNAR APLASIA OR HYPOPLASIA WITH RENAL ABNORMALITIES 228980 : FLECK RETINA, FAMILIAL BENIGN 228990 : FLECK RETINA OF KANDORI 229045 : FOCAL EPITHELIAL HYPERPLASIA, ORAL 229070 : FOLLICLE-STIMULATING HORMONE, ISOLATED DEFICIENCY OF 229120 : FOUNTAIN SYNDROME 229150 : FRAGILE X, SUPPRESSOR OF 229230 : FRASER-LIKE SYNDROME 229250 : FREESIA FLOWERS, INABILITY TO SMELL 229310 : FRIEDREICH ATAXIA AND CONGENITAL GLAUCOMA 229650 : FRUCTOSE UTILIZATION 229900 : FUCHS ATROPHIA GYRATA CHORIOIDEAE ET RETINAE 230300 : GALACTORRHEA 230430 : GALACTOSYLTRANSFERASE DEFICIENCY 230710 : GANGLIOSIDOSIS, GM2, JUVENILE, A(M)B VARIANT 230750 : GASTROSCHISIS 231060 : GENITOPALATOCARDIAC SYNDROME 231080 : GERMAN SYNDROME 231095 : GHOSAL HEMATODIAPHYSEAL DYSPLASIA; GHDD 231520 : GLOOMY FACE SYNDROME 231530 : GLUCAGON DEFICIENCY, HYPOGLYCEMIA DUE TO 231630 : GLUTAMATE MONOSODIUM SENSITIVITY 231690 : GLUTARYL-CoA OXIDASE DEFICIENCY 231970 : GLUTEAL MUSCLES, ABSENCE OF 232330 : GLYCOGEN STORAGE DISEASE IIb 232900 : GLYCOPROTEIN STORAGE DISEASE 233270 : GOMBO SYNDROME 233420 : GONADAL DYSGENESIS, XY TYPE 233430 : GONADAL DYSGENESIS, XY TYPE, WITH ASSOCIATED ANOMALIES 233450 : GOODPASTURE SYNDROME 233500 : GORLIN-CHAUDHRY-MOSS SYNDROME 233600 : GRANULOCYTOPENIA WITH IMMUNOGLOBULIN ABNORMALITY 233650 : GRANULOMATOUS DISEASE DUE TO COMBINED CELLULAR AND HUMORAL IMMUNE DEFECTS 233670 : GRANULOMATOUS DISEASE WITH DEFECT IN NEUTROPHIL CHEMOTAXIS 233800 : GROUPED PIGMENTATION OF THE MACULA 233805 : GROWTH FACTORS, COMBINED DEFECT OF 233810 : GROWTH RETARDATION, SMALL AND PUFFY HANDS AND FEET, AND ECZEMA 234030 : HAIR DEFECT WITH PHOTOSENSITIVITY AND MENTAL RETARDATION 234100 : HALLERMANN-STREIFF SYNDROME; HSS 234250 : HALL-RIGGS MENTAL RETARDATION SYNDROME 234280 : HALLUX VARUS AND PREAXIAL POLYSYNDACTYLY 234300 : HALO NEVI 234350 : HALOTHANE HEPATITIS 234580 : HEARING LOSS, SENSORINEURAL, WITH ENAMEL HYPOPLASIA AND NAIL DEFECTS 234700 : HEART BLOCK, CONGENITAL 234750 : HEART, MALFORMATION OF 234800 : HEMANGIOMATOSIS, CUTANEOUS, WITH ASSOCIATED FEATURES 234810 : HEMANGIOMATOSIS, FAMILIAL PULMONARY CAPILLARY 234820 : HEMANGIOPERICYTOMA, MALIGNANT 235000 : HEMIHYPERTROPHY 235255 : MULLERIAN DERIVATIVES, PERSISTENCE OF, WITH LYMPHANGIECTASIA AND POSTAXIAL POLYDACTYLY 235360 : HEMOLYTIC ANEMIA, CONGENITAL, WITH EMPHYSEMA AND CUTIS LAXA 235370 : HEMOLYTIC ANEMIA WITH THERMAL SENSITIVITY OF RED CELLS 235500 : HEMOSIDEROSIS, PULMONARY, WITH DEFICIENCY OF GAMMA-A GLOBULIN 235550 : HEPATIC VENOOCCLUSIVE DISEASE WITH IMMUNE DEFICIENCY 235555 : HEPATITIS, NEONATAL CHOLESTATIC, DUE TO DEFICIENCY OF DELTA(4)-3-OXOSTEROID 5-BETA-REDUCTASE 235600 : HERMAPHRODITISM, TRUE 235730 : HIRSCHSPRUNG DISEASE, MICROCEPHALY, AND IRIS COLOBOMA 235740 : HIRSCHSPRUNG DISEASE WITH POLYDACTYLY, RENAL AGENESIS, AND DEAFNESS 235750 : HIRSCHSPRUNG DISEASE WITH ULNAR POLYDACTYLY, POLYSYNDACTYLY OF BIG TOES, AND VENTRICULAR SEPTAL DEFECT 235760 : HIRSCHSPRUNG DISEASE WITH HYPOPLASTIC NAILS AND DYSMORPHIC FACIAL FEATURES 236000 : HODGKIN DISEASE 236110 : HOLZGREVE SYNDROME 236130 : HOMOCARNOSINOSIS 236300 : HOOFT DISEASE 236410 : HUMERORADIAL/MULTIPLE SYNOSTOSIS SYNDROME 236450 : HUTTERITE CEREBROOSTEONEPHRODYSPLASIA SYNDROME 236490 : HYALINOSIS, SYSTEMIC INFANTILE 236500 : HYDRANENCEPHALY WITH RENAL APLASIA-DYSPLASIA 236600 : HYDROCEPHALUS 236635 : HYDROCEPHALUS DUE TO CONGENITAL STENOSIS OF AQUEDUCT OF SYLVIUS 236640 : HYDROCEPHALUS WITH ASSOCIATED MALFORMATIONS 236660 : HYDROCEPHALUS, TALL STATURE, JOINT LAXITY, AND KYPHOSCOLIOSIS 236690 : HYDROCEPHALUS, NORMAL-PRESSURE 236750 : HYDROPS FETALIS, IDIOPATHIC 237100 : HYMEN, IMPERFORATE 237400 : HYPER-BETA-ALANINEMIA 237550 : HYPERBILIRUBINEMIA, CONJUGATED, TYPE III 237900 : HYPERBILIRUBINEMIA, TRANSIENT FAMILIAL NEONATAL 238200 : HYPERCYSTINURIA, ISOLATED 238340 : HYPERLEUCINE-ISOLEUCINEMIA 238350 : HYPERLEXIA 238400 : HYPERLIPIDEMIA, TYPE V 238500 : HYPERLIPIDEMIA, TYPE VI 238710 : HYPERLYSINEMIA DUE TO DEFECT IN LYSINE TRANSPORT INTO MITOCHONDRIA 238750 : HYPERLYSINURIA WITH HYPERAMMONEMIA 238800 : HYPERMETABOLISM DUE TO DEFECT IN MITOCHONDRIA 238950 : HYPEROPIA, HIGH 239199 : HYPERPARATHYROIDISM, NEONATAL SELF-LIMITED PRIMARY, WITH HYPERCALCIURIA 239350 : HYPERPHOSPHATEMIA, POLYURIA, AND SEIZURES 239400 : HYPERPIPECOLATEMIA 239710 : HYPERTELORISM, HYPOSPADIAS, POLYSYNDACTYLY SYNDROME 239711 : HYPERTELORISM AND TETRALOGY OF FALLOT 239840 : HYPERTRICHOSIS, CONGENITAL ANTERIOR CERVICAL, WITH PERIPHERAL SENSORY AND MOTOR NEUROPATHY 239850 : HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA 239900 : HYPERTROPHIC NEUROPATHY AND CATARACT 240000 : HYPERURICEMIA, INFANTILE, WITH ABNORMAL BEHAVIOR AND NORMAL HYPOXANTHINE GUANINE PHOSPHORIBOSYLTRANSFERASE 240100 : HYPERURICEMIA, LIPODYSTROPHY, AND NEUROLOGIC DEFECT 240150 : HYPERVITAMINOSIS A, SUSCEPTIBILITY TO 240400 : HYPOASCORBEMIA 240800 : HYPOGLYCEMIA, LEUCINE-INDUCED 240900 : HYPOGLYCEMIA, NEONATAL, SIMULATING FOETOPATHIA DIABETICA 240950 : HYPOGONADISM-CATARACT SYNDROME 241000 : HYPOGONADISM WITH LOW-GRADE MENTAL DEFICIENCY AND MICROCEPHALY 241090 : HYPOGONADISM, PRIMARY, AND PARTIAL ALOPECIA 241100 : HYPOGONADISM, MALE 241120 : HYPOHIDROSIS WITH ABNORMAL PALMAR DERMAL RIDGES 241519 : HYPOPHOSPHATEMIA, RENAL, WITH INTRACEREBRAL CALCIFICATIONS 241520 : HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL RECESSIVE 241540 : HYPOPITUITARISM, CONGENITAL, WITH CENTRAL DIABETES INSIPIDUS 241550 : HYPOPLASTIC LEFT HEART SYNDROME 241600 : HYPOPROTEINEMIA, HYPERCATABOLIC 241750 : HYPOSPADIAS 241760 : HYPOSPADIAS-MENTAL RETARDATION SYNDROME 241800 : HYPOTHALAMIC HAMARTOMAS 242050 : HYPOURICEMIA, HYPERCALCINURIA, AND DECREASED BONE DENSITY 242150 : ICHTHYOSIFORM ERYTHRODERMA, CORNEAL INVOLVEMENT, AND DEAFNESS 242400 : ICHTHYOSIS CONGENITA WITH BILIARY ATRESIA 242510 : ICHTHYOSIS WITH ALOPECIA, ECLABION, ECTROPION, AND MENTAL RETARDATION 242520 : ICHTHYOSIS, HEPATOSPLENOMEGALY, AND CEREBELLAR DEGENERATION 242530 : ICHTHYOSIS, MENTAL RETARDATION, DWARFISM, AND RENAL IMPAIRMENT 242550 : ICHTHYOSIS, SPLIT HAIRS, AND AMINOACIDURIA 242680 : IMMOTILE CILIA SYNDROME DUE TO EXCESSIVELY LONG CILIA 242800 : IMMUNE DEFECT WITH LYMPHOTOXIC FACTOR 242840 : IMMUNODEFICIENCY WITH CLEFT LIP/PALATE, CATARACT, HYPOPIGMENTATION, AND ABSENT CORPUS CALLOSUM 242850 : IMMUNE DEFICIENCY DISEASE 242870 : IMMUNODEFICIENCY, PARTIAL COMBINED, WITH ABSENCE OF HLA DETERMINANTS AND BETA-2-MICROGLOBULIN FROM LYMPHOCYTES 242880 : IMMUNOERYTHROMYELOID HYPOPLASIA 242890 : IMMUNOGLOBULIN D LEVEL IN PLASMA, LOW 243050 : INDOLYLACROYL GLYCINURIA WITH MENTAL RETARDATION 243060 : INFERTILITY ASSOCIATED WITH MULTI-TAILED SPERMATOZOA AND EXCESSIVE DNA 243080 : INOSINE PHOSPHORYLASE DEFICIENCY, IMMUNE DEFECT DUE TO 243095 : INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO 243100 : INTERNAL CAROTID ARTERIES, HYPOPLASIA OF 243110 : INTERLEUKIN 1, DEFECTIVE T-CELL RESPONSE TO 243185 : INTESTINAL PSEUDOOBSTRUCTION WITH PATENT DUCTUS ARTERIOSUS AND NATAL TEETH 243200 : INTRACRANIAL HYPERTENSION, IDIOPATHIC 243310 : IRIS COLOBOMA WITH PTOSIS, HYPERTELORISM, AND MENTAL RETARDATION 243320 : INTRINSIC FACTOR AND R BINDER, COMBINED CONGENITAL DEFICIENCY OF 243340 : ISCHIADIC HYPOPLASIA WITH RENAL DYSFUNCTION, IMMUNODEFICIENCY, AND POLYDACTYLY 243440 : ISOTRETINOIN EMBRYOPATHY-LIKE SYNDROME 243450 : ISOVALERIC ACID, INABILITY TO SMELL 243605 : JEJUNAL ATRESIA WITH MICROCEPHALY AND OCULAR ANOMALIES 243700 : JOB SYNDROME 243910 : JOUBERT SYNDROME WITH BILATERAL CHORIORETINAL COLOBOMA 244100 : JUMPING FRENCHMAN OF MAINE 244300 : KAPUR-TORIELLO SYNDROME 244500 : KERATOCONUS 244510 : KERATOCONUS AND CONGENITAL HIP DYSPLASIA 244600 : KERATOCONUS POSTICUS CIRCUMSCRIPTUS; KPC 244850 : KERATODERMA, PALMOPLANTAR, NORRBOTTEN RECESSIVE TYPE 245130 : KETOADIPICACIDURIA 245160 : KNIEST-LIKE DYSPLASIA WITH PURSED LIPS AND ECTOPIA LENTIS 245180 : KIFAFA SEIZURE DISORDER 245190 : KNIEST-LIKE DYSPLASIA, LETHAL 245210 : KOUSSEFF SYNDROME 245300 : KURU 245340 : LACTATE TRANSPORTER DEFECT, MYOPATHY DUE TO 245348 : LACTIC ACIDEMIA DUE TO DEFECT OF E2 LIPOYL TRANSACETYLASE OF THE PYRUVATE DEHYDROGENASE COMPLEX 245450 : LACTIC ACIDURIA DUE TO D-LACTIC ACID 245550 : LAMBERT SYNDROME 245552 : LAMBOTTE SYNDROME 245570 : LANDAU-KLEFFNER SYNDROME; LKS 245590 : LARON SYNDROME, TYPE II 245650 : LARSEN-LIKE SYNDROME, LETHAL TYPE 246300 : LEPROSY, VULNERABILITY TO 246470 : LEUKEMIA, ACUTE MYELOCYTIC, WITH POLYPOSIS COLI AND COLON CANCER 246500 : LEUKOMELANODERMA, INFANTILISM, MENTAL RETARDATION, HYPODONTIA, HYPOTRICHOSIS 246550 : LICHTENSTEIN SYNDROME 246555 : LIMB DEFECTS, DISTAL TRANSVERSE, WITH MENTAL RETARDATION AND SPASTICITY 246560 : LIMB DEFICIENCIES, DISTAL, WITH MICROGNATHIA 246570 : LIMB DEFICIENCY-HEART MALFORMATION SYNDROME 246650 : LIPASE DEFICIENCY, COMBINED 247150 : LIP PRINTS 247410 : LYMPHEDEMA-HYPOPARATHYROIDISM SYNDROME 247420 : LUTHERAN NULL 247430 : LYMPHOBLASTIC TRANSFORMATION, INHIBITION OF 247440 : LYMPHEDEMA, CONGENITAL RECESSIVE 247450 : LYMPHOBLASTIC TRANSFORMATION, INTRINSIC DEFECT IN 247610 : LYMPHOID INTERSTITIAL PNEUMONIA; LIP 247630 : LYMPHOID SYSTEM DETERIORATION, PROGRESSIVE 247640 : LYMPHOBLASTIC LEUKEMIA, ACUTE, WITH LYMPHOMATOUS FEATURES; LALL 247650 : LYMPHOKINE DEFICIENCY 247900 : LYSINE INTOLERANCE 247950 : LYSINE MALABSORPTION SYNDROME 247990 : MACDERMOT-WINTER SYNDROME 248000 : MACROCEPHALY 248010 : MACROEPIPHYSEAL DYSPLASIA WITH OSTEOPOROSIS, WRINKLED SKIN, AND AGED APPEARANCE 248100 : MACROSOMIA ADIPOSA CONGENITA 248110 : MACROSOMIA WITH MICROPHTHALMIA, LETHAL 248190 : MACULAR COLOBOMA, BILATERAL, WITH HYPERCALCIURIA 248260 : MAGNESIUM, ELEVATED RED CELL 248340 : MALPUECH FACIAL CLEFTING SYNDROME 248350 : MALOCCLUSION, DENTAL, AND SHORT STATURE 248390 : MANDIBULOFACIAL DYSOSTOSIS, TREACHER COLLINS TYPE, AUTOSOMAL RECESSIVE 248400 : MANDIBULOFACIAL DYSOSTOSIS WITH MENTAL DEFICIENCY 248450 : MANITOBA OCULOTRICHOANAL SYNDROME; MOTA 248760 : MARFANOID HABITUS WITH MICROCEPHALY AND GLOMERULONEPHRITIS 248770 : MARFANOID MENTAL RETARDATION SYNDROME, AUTOSOMAL 248810 : MARINESCO-SJOGREN-LIKE SYNDROME; MSLS 248910 : MASTOCYTOSIS, CUTANEOUS, WITH SHORT STATURE, CONDUCTIVE HEARING LOSS AND MICROTIA 248950 : MCDONOUGH SYNDROME 249230 : MEGAEPIPHYSEAL DWARFISM 249240 : MEGALENCEPHALY WITH DYSMYELINATION 249300 : MEGALOCORNEA 249400 : MELANOSIS, NEUROCUTANEOUS 249420 : MELNICK-NEEDLES SYNDROME 249500 : MENTAL RETARDATION, RECESSIVE 249599 : MENTAL RETARDATION SYNDROME, BELGIAN TYPE 249600 : MENTAL RETARDATION SYNDROME, MIETENS-WEBER TYPE 249630 : MENTAL RETARDATION, BUENOS AIRES TYPE 249660 : MESANGIAL SCLEROSIS, DIFFUSE RENAL, WITH OCULAR ABNORMALITIES 249670 : MESOAXIAL HEXADACTYLY AND CARDIAC MALFORMATION 249710 : MESOMELIC LIMB SHORTENING AND BOWING 249800 : METACHROMATIC LEUKODYSTROPHY AND AMAUROTIC IDIOCY, COMBINED FEATURES OF 250215 : METAPHYSEAL ACROSCYPHODYSPLASIA 250220 : METAPHYSEAL CHONDRODYSPLASIA, CONGENITAL LETHAL 250230 : METAPHYSEAL CHONDRODYSPLASIA, KAITILA TYPE 250300 : METAPHYSEAL CHONDRODYSPLASIA, PENA TYPE 250400 : METAPHYSEAL CHONDRODYSPLASIA, SPAHR TYPE 250410 : METAPHYSEAL CHONDRODYSPLASIA WITH RETINITIS PIGMENTOSA 250420 : METAPHYSEAL DYSOSTOSIS, MENTAL RETARDATION, AND CONDUCTIVE DEAFNESS 250450 : METAPHYSEAL DYSPLASIA, ANETODERMA, AND OPTIC ATROPHY 250460 : METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS 250500 : METAPHYSEAL MODELING ABNORMALITY, SKIN LESIONS, AND SPASTIC PARAPLEGIA 250650 : METHANE PRODUCTION 250700 : METHEMOGLOBIN REDUCTASE DEFICIENCY; TPNH- 250951 : 3-@METHYLGLUTACONICACIDURIA, TYPE IV 251120 : METHYLMALONICACIDURIA III 251190 : MICROCEPHALIC PRIMORDIAL DWARFISM, TORIELLO TYPE 251220 : MICROCEPHALY-CARDIOMYOPATHY 251240 : MICROCEPHALY WITH CHEMOTACTIC DEFECT AND TRANSIENT HYPOGAMMAGLOBULINEMIA 251250 : MICROCEPHALY WITH CERVICAL SPINE FUSION ANOMALIES 251255 : MICROCEPHALY WITH DIGITAL ANOMALIES 251280 : MICROCEPHALY WITH SPASTIC QUADRIPLEGIA 251290 : PSEUDO-TORCH SYNDROME 251400 : MICROCOLON 251455 : MICROMELIC DYSPLASIA, CONGENITAL, WITH DISLOCATION OF RADIUS 251505 : MICROPHTHALMIA WITH COLOBOMATOUS CYST 251700 : MICROPHTHALMOS WITH HYPERMETROPIA, RETINAL DEGENERATION, MACROPHAKIA AND DENTAL ANOMALIES 251750 : MICROSPHEROPHAKIA 251880 : MITOCHONDRIAL DNA DEPLETION SYNDROME 251900 : MITOCHONDRIAL MYOPATHY 251945 : MITOCHONDRIAL MYOPATHY WITH A DEFECT IN MITOCHONDRIAL-PROTEIN TRANSPORT 251950 : MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS 252011 : COMPLEX II, MITOCHONDRIAL RESPIRATORY CHAIN, DEFICIENCY OF 252030 : MITRAL VALVE PROLAPSE AND OPHTHALMOPLEGIA 252200 : MONILETHRIX 252250 : MONOCYTE CHEMOTACTIC DISORDER 252270 : MONOSOMY 7 OF BONE MARROW 252300 : MORQUIO SYNDROME, NONKERATOSULFATE-EXCRETING TYPE 252320 : MOTOR NEUROPATHY, PERIPHERAL, WITH DYSAUTONOMIA 253320 : MULTICORE MYOPATHY WITH MENTAL RETARDATION, SHORT STATURE, AND HYPOGONADOTROPIC HYPOGONADISM 253500 : MUSCULAR ATROPHY, PROGRESSIVE 253590 : MUSCULAR DYSTROPHY, ADULT-ONSET, WITH LEUKOENCEPHALOPATHY 253850 : MUSCULAR DYSTROPHY, CONGENITAL, EICHSFELD TYPE 254000 : MUSCULAR DYSTROPHY, CONGENITAL, WITH INFANTILE CATARACT AND HYPOGONADISM 254090 : MUSCULAR DYSTROPHY, SCLEROATONIC 254100 : MUSCULAR DYSTROPHY, CONGENITAL, WITH RAPID PROGRESSION 254120 : MUSCULAR HYPERTONIA, LETHAL 254190 : MYASTHENIA, CONGENITAL, REFRACTORY TO ACETYLCHOLINESTERASE INHIBITORS 254195 : MYASTHENIA, CONGENITAL, PREDOMINANTLY FACIAL AND MASTICATORY 254200 : MYASTHENIA GRAVIS; MG 254300 : MYASTHENIC MYOPATHY 254400 : MYCOSIS FUNGOIDES 254450 : MYELOFIBROSIS, FAMILIAL 254700 : MYELOPROLIFERATIVE DISEASE 254940 : MYOPATHY, CONGENITAL NONPROGRESSIVE, WITH MOEBIUS SEQUENCE AND ROBIN SEQUENCE 254950 : MYOPATHY, GRANULOVACUOLAR LOBULAR, WITH ELECTRICAL MYOTONIA 254960 : MYOPATHY DUE TO MALATE-ASPARTATE SHUTTLE DEFECT 255100 : MYOPATHY WITH ABNORMAL LIPID METABOLISM 255140 : MYOPATHY WITH GIANT ABNORMAL MITOCHONDRIA 255160 : MYOPATHY WITH LYSIS OF TYPE I MYOFIBRILS 255200 : MYOPATHY, CENTRONUCLEAR 255310 : MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION 255500 : MYOPIA, INFANTILE SEVERE 255600 : MYOSCLEROSIS, CONGENITAL, OF LOWENTHAL 255710 : MYOTONIA WITH SKELETAL ABNORMALITIES AND MENTAL RETARDATION 255900 : MYXEDEMA 255980 : NASODIGITOACOUSTIC SYNDROME 255990 : NATHALIE SYNDROME 255995 : NATIVE AMERICAN MYOPATHY 256020 : NAIL-PATELLA-LIKE RENAL DISEASE 256040 : NAKAJO SYNDROME 256120 : NEPHROPATHY, DEAFNESS, AND HYPERPARATHYROIDISM 256150 : NEPHROSIALIDOSIS 256200 : NEPHROSIS WITH DEAFNESS AND URINARY TRACT AND DIGITAL MALFORMATIONS 256350 : NEPHROTIC SYNDROME WITH FOCAL GLOMERULAR SCLEROSIS 256690 : NEUROFACIODIGITORENAL SYNDROME 256720 : NEUROLOGIC DISEASE, INFANTILE MULTISYSTEM, WITH OSSEOUS FRAGILITY 256840 : NEUROPATHY, HEREDITARY SENSORY, WITH SPASTIC PARAPLEGIA 256851 : NEUROPATHY, GIANT AXONAL, TUNISIAN FORM 256860 : NEUROPATHY, HEREDITARY SENSORY, ATYPICAL 256870 : NEUROPATHY, PAINFUL 257000 : NEUROVISCERAL STORAGE DISEASE WITH CURVILINEAR BODIES 257050 : NEUROVISCERAL STORAGE DISEASE WITH VERTICAL SUPRANUCLEAR OPHTHALMOPLEGIA 257100 : NEUTROPENIA, LETHAL CONGENITAL, WITH EOSINOPHILIA 257300 : NONDISJUNCTION 257350 : NUCHAL BLEB, FAMILIAL 257400 : NYSTAGMUS, CONGENITAL MOTOR, AUTOSOMAL RECESSIVE 257500 : OBESITY-HYPOVENTILATION SYNDROME 257790 : OCULOCEREBRAL HYPOPIGMENTATION SYNDROME OF PREUS 257910 : OCULOPALATOCEREBRAL DWARFISM 257920 : OCULOPALATOSKELETAL SYNDROME 257960 : OCULOTRICHODYSPLASIA; OTD 257980 : ODONTOONYCHODERMAL DYSPLASIA 258040 : OEIS COMPLEX 258200 : OLIVER SYNDROME 258315 : OMODYSPLASIA, GENERALIZED FORM 258320 : OMPHALOCELE-CLEFT PALATE SYNDROME, LETHAL 258450 : OPHTHALMOPLEGIA, PROGRESSIVE EXTERNAL 258470 : OPHTHALMOPLEGIC NEUROMUSCULAR DISORDER WITH ABNORMAL MITOCHONDRIA 258500 : OPTIC ATROPHY, CONGENITAL OR EARLY INFANTILE 258650 : OPTIC ATROPHY, NERVE DEAFNESS, AND DISTAL NEUROGENIC AMYOTROPHY 258660 : OPTIC NEUROPATHY, ANTERIOR ISCHEMIC 258800 : ORAL SENSIBILITY, DISTURBANCE OF 258840 : ORAL AND DIGITAL ANOMALIES WITH ICHTHYOSIS 258860 : ORAL-FACIAL-DIGITAL SYNDROME, TYPE IV 258865 : ORAL-FACIAL-DIGITAL SYNDROME WITH RETINAL ABNORMALITIES 258920 : OROTICACIDURIA II 259050 : OSSIFIED EAR CARTILAGES WITH MENTAL DEFICIENCY, MUSCLE WASTING, AND BONY CHANGES 259100 : OSTEOARTHROPATHY, FAMILIAL IDIOPATHIC, OF CHILDHOOD 259200 : OSTEOCHONDROSIS DEFORMANS TIBIAE, FAMILIAL INFANTILE TYPE 259270 : OSTEODYSPLASTY, PRECOCIOUS, OF DANKS, MAYNE, AND KOZLOWSKI 259410 : OSTEOGENESIS IMPERFECTA CONGENITA, MICROCEPHALY, AND CATARACTS 259440 : OSTEOGENESIS IMPERFECTA, SILLENCE TYPE II/III, WITHOUT ABNORMALITY OF TYPE I COLLAGEN 259550 : OSTEOID OSTEOMA 259600 : OSTEOLYSIS, HEREDITARY MULTICENTRIC 259610 : OSTEOLYSIS SYNDROME, RECESSIVE 259650 : OSTEOMA OF MIDDLE EAR 259660 : OSTEOMALACIA, SCLEROSING, WITH CEREBRAL CALCIFICATION 259680 : OSTEOMYELITIS, CHRONIC MULTIFOCAL; OCM 259690 : OSTEOPENIA AND SPARSE HAIR 259710 : OSTEOPETROSIS, MILD AUTOSOMAL RECESSIVE FORM 259720 : OSTEOPETROSIS, LETHAL 259750 : OSTEOPOROSIS, JUVENILE 259775 : OSTEOSCLEROTIC BONE DYSPLASIA, LETHAL 260100 : PA POLYMORPHISM OF ALPHA-2-GLOBULIN 260130 : PACHYONYCHIA CONGENITA, RECESSIVE 260150 : PALANT CLEFT PALATE SYNDROME 260200 : PALLIDAL DEGENERATION, PROGRESSIVE, WITH RETINITIS PIGMENTOSA 260450 : PANCREATIC INSUFFICIENCY, COMBINED EXOCRINE 260470 : PANENCEPHALITIS, SUBACUTE SCLEROSING 260480 : PANCREATITIS, SCLEROSING CHOLANGITIS, AND SICCA COMPLEX 260500 : PAPILLOMA OF CHOROID PLEXUS 260530 : PARANA HARD-SKIN SYNDROME 260540 : PARKINSON-DEMENTIA SYNDROME 260555 : PARTINGTON-ANDERSON SYNDROME 260570 : PELGER-HUET-LIKE ANOMALY AND EPISODIC FEVER WITH ABDOMINAL PAIN 260650 : PELLAGRA-LIKE SYNDROME 260660 : PELVISCAPULAR DYSPLASIA 260900 : PERICARDIAL EFFUSION, CHRONIC 260910 : PERIFOLLICULITIS CAPITIS ABSCEDENS ET SUFFODIENS, FAMILIAL 260950 : PERIODONTOSIS, JUVENILE 260970 : PERIPHERAL NEUROPATHY, ATAXIA, FOCAL NECROTIZING ENCEPHALOPATHY, AND SPONGY DEGENERATION OF BRAIN 260980 : PERISYLVIAN SYNDROME, CONGENITAL BILATERAL; CBPS 261400 : PERONEUS TERTIUS MUSCLE, ABSENCE OF 261560 : PFEIFFER-PALM-TELLER SYNDROME 261575 : PHAVER SYNDROME 261590 : PHENFORMIN 4-HYDROXYLATION 261660 : PHOSPHOFRUCTOKINASE, RED CELL, FETAL TYPE 261740 : PHOSPHORYLASE KINASE DEFICIENCY OF HEART 261800 : PIERRE ROBIN SYNDROME 261900 : PILI TORTI 261990 : PILI TORTI AND DEVELOPMENTAL DELAY 262020 : PILODENTAL DYSPLASIA WITH REFRACTIVE ERRORS 262700 : PITUITARY DWARFISM WITH SMALL SELLA TURCICA 262710 : PITUITARY DWARFISM WITH LARGE SELLA TURCICA 262800 : PLASMA CLOT RETRACTION FACTOR, DEFICIENCY OF 262875 : PLATELET PROSTACYCLIN RECEPTOR DEFECT 262890 : PLATELET RECEPTOR FOR FACTOR X, DEFICIENCY OF 262900 : PLEOCONIAL MYOPATHY WITH SALT CRAVING 263100 : POLYCYSTIC KIDNEY, CATARACT, AND CONGENITAL BLINDNESS 263300 : POLYCYTHEMIA VERA 263450 : POLYDACTYLY, POSTAXIAL 263510 : POLYDACTYLY WITH NEONATAL CHONDRODYSTROPHY, TYPE III 263540 : POLYDACTYLY, POSTAXIAL, WITH DENTAL AND VERTEBRAL ANOMALIES 263550 : POLYMYOCLONUS, INFANTILE 263560 : POLYNEUROPATHY, MIXED, OF EARLY ONSET 263600 : POLYSACCHARIDE, STORAGE OF UNUSUAL 263610 : POLYHYDRAMNIOS, CHRONIC IDIOPATHIC 263630 : POLYSYNDACTYLY WITH CARDIAC MALFORMATION 264010 : PRADER-WILLI HABITUS, OSTEOPENIA, AND CAMPTODACTYLY 264050 : PRENATAL BOWING 264060 : PREPAPILLARY VASCULAR LOOPS 264110 : PROLACTIN DEFICIENCY, ISOLATED 264120 : PROLACTIN DEFICIENCY WITH OBESITY AND ENLARGED TESTES 264140 : PRUNE BELLY SYNDROME WITH PULMONIC STENOSIS, MENTAL RETARDATION, AND DEAFNESS 264150 : PSEUDOACHONDROPLASTIC DYSPLASIA II 264180 : PSEUDODIASTROPHIC DYSPLASIA 264420 : FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, RECESSIVE FORM 264475 : PSEUDOPAPILLEDEMA, OCULAR HYPOTELORISM, BLEPHAROPHIMOSIS, AND HAND ANOMALIES 264480 : PSEUDOTRISOMY 13 SYNDROME 264500 : PSEUDOURIDINURIA AND MENTAL DEFECT 264810 : PSEUDOXANTHOMA ELASTICUM, RECESSIVE TYPE II 265050 : PTOSIS OF EYELIDS WITH DIASTASIS RECTI AND HIP DYSPLASIA 265140 : PULMONARY ARTERIOVENOUS FISTULAS 265150 : PULMONARY ATRESIA WITH INTACT VENTRICULAR SEPTUM 265200 : PULMONARY BULLAE CAUSING PNEUMOTHORAX 265300 : PULMONARY CYSTIC LYMPHANGIECTASIS 265380 : PULMONARY HYPERTENSION, FAMILIAL PERSISTENT, OF THE NEWBORN 265400 : PULMONARY HYPERTENSION, PRIMARY 265430 : PULMONARY HYPOPLASIA 265450 : PULMONARY VENOOCCLUSIVE DISEASE 265500 : PULMONIC STENOSIS 265600 : PULMONIC STENOSIS AND CONGENITAL NEPHROSIS 265880 : PYKNOACHONDROGENESIS 266255 : RADIOULNAR SYNOSTOSIS, UNILATERAL, WITH DEVELOPMENTAL RETARDATION AND HYPOTONIA 266270 : RAMON SYNDROME 266280 : RAPADILINO SYNDROME 266400 : REESE RETINAL DYSPLASIA 266810 : RENAL AND MULLERIAN DUCT HYPOPLASIA 266910 : RENAL DYSPLASIA-LIMB DEFECTS SYNDROME 266920 : RENAL DYSPLASIA, RETINAL PIGMENTARY DYSTROPHY, CEREBELLAR ATAXIA, AND SKELETAL DYSPLASIA 267010 : RENAL-HEPATIC-PANCREATIC DYSPLASIA WITH DANDY-WALKER CYST 267200 : RENAL TUBULAR ACIDOSIS III 267400 : RENAL, GENITAL, AND MIDDLE EAR ANOMALIES 267450 : RESPIRATORY DISTRESS SYNDROME 267480 : RESPIRATORY UNDERRESPONSIVENESS TO HYPOXIA AND HYPERCAPNIA 267730 : RETICULUM CELL SARCOMA 267740 : RETINAL DEGENERATION AND EPILEPSY 267760 : RETINAL DEGENERATION WITH NANOPHTHALMOS, CYSTIC MACULAR DEGENERATION, AND ANGLE CLOSURE GLAUCOMA 267800 : RETINAL DYSTROPHY, RETICULAR PIGMENTARY, OF POSTERIOR POLE 267900 : RETINAL TELANGIECTASIA AND HYPOGAMMAGLOBULINEMIA 268010 : RETINITIS PIGMENTOSA INVERSA WITH DEAFNESS 268020 : RETINITIS PIGMENTOSA, DEAFNESS, MENTAL RETARDATION, AND HYPOGONADISM 268025 : RETINITIS PIGMENTOSA, LATE-ADULT ONSET 268030 : RETINITIS PIGMENTOSA, PPRPE TYPE 268040 : RETINOHEPATOENDOCRINOLOGIC SYNDROME 268050 : RETINOPATHY, PIGMENTARY, AND MENTAL RETARDATION 268060 : RETINOPATHY, PERICENTRAL PIGMENTARY, RECESSIVE 268130 : REVESZ SYNDROME 268240 : RHEUMATIC FEVER-RELATED ANTIGEN 268250 : RHIZOMELIC SYNDROME 268305 : ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES 268315 : ROD-CONE DYSTROPHY, SENSORINEURAL DEAFNESS, AND FANCONI-TYPE RENAL DYSFUNCTION 268320 : RODRIGUES BLINDNESS 268500 : ROWLEY-ROSENBERG SYNDROME 268650 : RUDIGER SYNDROME 268700 : SACCHAROPINURIA 268850 : SAO PAULO MCA/MR SYNDROME 268950 : SARCOTUBULAR MYOPATHY 269150 : SCHINZEL-GIEDION MIDFACE-RETRACTION SYNDROME 269160 : SCHIZENCEPHALY, FAMILIAL 269200 : SCHMIDT SYNDROME 269300 : SCHWARTZ-LELEK SYNDROME 269400 : SCLEROCORNEA 269600 : SEA-BLUE HISTIOCYTE DISEASE 269630 : SECOND METATARSAL-METACARPAL SYNDROME 269650 : SECRETORY COMPONENT DEFICIENCY 269720 : SEIZURES, BENIGN FAMILIAL NEONATAL 269800 : SENILE PLAQUE FORMATION 269840 : SEVERE COMBINED IMMUNODEFICIENCY, ATYPICAL 269870 : SHORT STATURE-OBESITY SYNDROME; SSOS 269880 : SHORT SYNDROME 269950 : SIDEROBLASTIC ANEMIA, AUTOSOMAL 270150 : SJOGREN SYNDROME 270220 : SJOGREN-LARSSON-LIKE ICHTHYOSIS WITHOUT CNS OR EYE INVOLVEMENT 270230 : SKELETAL DYSPLASIA, SAN DIEGO TYPE 270240 : SKELETAL DYSPLASIA WITH TELANGIECTASES AND MESODERMAL DYSGENESIS OF THE IRIS 270350 : SKUNK N-BUTYLMERCAPTAN, INABILITY TO SMELL 270420 : SODIUM DIARRHEA, CONGENITAL 270425 : SODIUM-POTASSIUM-ATPase ACTIVITY OF RED CELL 270450 : SOMATOMEDIN, END-ORGAN INSENSITIVITY TO 270460 : SONODA SYNDROME 270500 : SPASTIC ATAXIA 270680 : SPASTIC PARAPARESIS, VITILIGO, PREMATURE GRAYING, CHARACTERISTIC FACIES 270710 : FITZSIMMONS-GUILBERT SYNDROME 270750 : SPASTIC PARAPLEGIA WITH PIGMENTARY ABNORMALITIES 270805 : SPASTIC PARAPLEGIA WITH MYOCLONIC EPILEPSY 270850 : SPASTIC PARESIS, GLAUCOMA, AND MENTAL RETARDATION 270900 : SPASTIC PSEUDOSCLEROSIS 270950 : SPASTIC QUADRIPLEGIA, RETINITIS PIGMENTOSA, AND MENTAL RETARDATION 270960 : SPERMATOGENESIS ARREST 271100 : SPINAL EXTRADURAL CYST 271109 : SPINAL MUSCULAR ATROPHY WITH MENTAL RETARDATION 271110 : SPINAL MUSCULAR ATROPHY WITH MICROCEPHALY AND MENTAL SUBNORMALITY 271120 : SPINAL MUSCULAR ATROPHY, DISTAL 271150 : SPINAL MUSCULAR ATROPHY, PROXIMAL, ADULT TYPE 271200 : SPINAL MUSCULAR ATROPHY, RYUKYUAN TYPE 271220 : SPINAL MUSCULAR ATROPHY, SCAPULOPERONEAL 271225 : SPINAL MUSCULAR ATROPHY, TYPE I, WITH CONGENITAL BONE FRACTURES 271250 : SPINOCEREBELLAR ATAXIA WITH BLINDNESS AND DEAFNESS 271270 : SPINOCEREBELLAR ATAXIA WITH DYSMORPHISM 271310 : SPINOCEREBELLAR DEGENERATION AND CORNEAL DYSTROPHY 271320 : SPINOCEREBELLAR DEGENERATION WITH MACULAR CORNEAL DYSTROPHY, CONGENITAL CATARACTS, AND MYOPIA 271322 : SPINOCEREBELLAR DEGENERATION WITH SLOW EYE MOVEMENTS; SDSEM 271500 : SPLENOPORTAL VASCULAR ANOMALIES 271510 : SPONASTRIME DYSPLASIA 271520 : SPONDYLOCOSTAL DYSOSTOSIS WITH ANAL ATRESIA AND UROGENITAL ANOMALIES 271530 : SPONDYLODYSPLASIA WITH PURE BRACHYOLMIA 271620 : SPONDYLOEPIPHYSEAL DYSPLASIA TARDA WITH MENTAL RETARDATION 271665 : SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE 271700 : SPONDYLOPERIPHERAL DYSPLASIA WITH SHORT ULNA 271930 : STRIATONIGRAL DEGENERATION, INFANTILE 271950 : SUBAORTIC STENOSIS, MEMBRANOUS 271960 : SUBAORTIC STENOSISSHORT STATURE SYNDROME 272000 : SUCROSURIA, HIATUS HERNIA AND MENTAL RETARDATION 272100 : SUDANOPHILIC CEREBRAL SCLEROSIS 272120 : SUDDEN INFANT DEATH SYNDROME 272150 : SUGARMAN BRACHYDACTYLY 272350 : SUMMITT SYNDROME 272430 : SWEATING, COLD-INDUCED 272440 : SYNDACTYLY, TYPE I, WITH MICROCEPHALY AND MENTAL RETARDATION 272450 : SYNDESMODYSPLASIC DWARFISM 272480 : SYRINGOMYELIA 272500 : SYSTEMIC CYSTIC ANGIOMATOSIS AND SEIP SYNDROME 272550 : TACHYCARDIA, HYPERTENSION, MICROPHTHALMOS, AND HYPERGLYCINURIA 272600 : TAPETORETINAL DEGENERATION WITH ATAXIA 272620 : TARDIVE DYSKINESIA 272700 : TAURODONTISM 272950 : TEEBI-SHALTOUT SYNDROME 272980 : TEETH, CONGENITAL ABSENCE OF, WITH TAURODONTIA AND SPARSE HAIR 273000 : TEETH, FUSED 273050 : TEETH, NONERUPTION OF, WITH MAXILLARY HYPOPLASIA AND GENU VALGUM 273120 : TERATOMA, PINEAL 273150 : TESTES, RUDIMENTARY 273250 : TESTICULAR REGRESSION SYNDROME; TRS 273390 : TETRA-AMELIA WITH ECTODERMAL DYSPLASIA AND LACRIMAL DUCT ABNORMALITIES 273400 : TETRAMELIC DEFICIENCIES, ECTODERMAL DYSPLASIA, DEFORMED EARS, AND OTHER ABNORMALITIES 273490 : THALAMIC DEGENERATION, SYMMETRIC INFANTILE 273600 : THALIDOMIDE SUSCEPTIBILITY 273680 : THANATOPHORIC DYSPLASIA, GLASGOW VARIANT 273730 : THORACIC DYSPLASIA-HYDROCEPHALUS SYNDROME 273740 : THORACOMELIC DYSPLASIA 273770 : THREONINEMIA 274200 : THUMB, DISTAL HYPEREXTENSIBILITY OF 274205 : THUMB, HYPOPLASTIC, WITH CHOROID COLOBOMA, POORLY DEVELOPED ANTIHELIX, AND DEAFNESS 274210 : THYMIC APLASIA WITH FETAL DEATH 274230 : THYMOMA, FAMILIAL 274240 : THYROCEREBRORETINAL SYNDROME 274260 : THYMIC NEOPLASIA 274265 : THYMIC-RENAL-ANAL-LUNG DYSPLASIA 274900 : THYROID HORMONOGENESIS, GENETIC DEFECT IN, V 275190 : TIGLICACIDEMIA 275220 : TIBIA, ABSENCE OF 275230 : TIBIA, ABSENCE OF, WITH CONGENITAL DEAFNESS 275240 : TINEA IMBRICATA, SUSCEPTIBILITY TO 275300 : TRACHEOBRONCHOMEGALY 275400 : TRICHOMEGALY WITH MENTAL RETARDATION, DWARFISM, AND PIGMENTARY DEGENERATION OF RETINA 275450 : TRICHOODONTOONYCHIAL DYSPLASIA 275500 : TRICHORHINOPHALANGEAL SYNDROME, RECESSIVE FORM 275550 : TRICHORRHEXIS NODOSA SYNDROME 275595 : TRIGONOBRACHYCEPHALY, BULBOUS BIFID NOSE, MICROGNATHIA, AND ABNORMALITIES OF THE HANDS AND FEET 275600 : TRIGONOCEPHALY 276200 : T-SUBSTANCE ANOMALY 276400 : TWINNING, DIZYGOTIC 276410 : TWINNING, MONOZYGOTIC 276500 : TYROSINE METABOLISM, DELAYED MATURATION IN 276800 : TYROSINOSIS 276821 : ULNAR HYPOPLASIA WITH MENTAL RETARDATION 276822 : ULNAR AGENESIS AND ENDOCARDIAL FIBROELASTOSIS 276850 : UPSHAW FACTOR, DEFICIENCY OF 276880 : UROCANASE DEFICIENCY 276950 : VACTERL ASSOCIATION WITH HYDROCEPHALUS 277000 : VAGINA, ABSENCE OF 277175 : VASCULAR HYALINOSIS 277200 : VENTRICLE, HYPOPLASIA OF RIGHT 277380 : VITAMIN B12 LYSOSOMAL RELEASE DEFECT 277420 : VITAMIN D-DEPENDENT RICKETS, TYPE II 277465 : VITILIGO, PROGRESSIVE, WITH MENTAL RETARDATION AND URETHRAL DUPLICATION 277590 : WEAVER SYNDROME 277720 : WHISTLING FACE SYNDROME, RECESSIVE FORM 277740 : WHITE FORELOCK WITH MALFORMATIONS 277970 : WISKOTT-ALDRICH SYNDROME 277990 : WOLFF MENTAL RETARDATION SYNDROME 278100 : WOLMAN DISEASE WITH HYPOLIPOPROTEINEMIA AND ACANTHOCYTOSIS 278150 : WOOLLY HAIR, AUTOSOMAL RECESSIVE 278200 : WOOLLY HAIR, HYPOTRICHOSIS, EVERTED LOWER LIP, AND OUTSTANDING EARS 278810 : XERODERMA PIGMENTOSUM IX 278850 : XX MALE SYNDROME 278900 : XYLOSIDASE DEFICIENCY 279000 : YOUNG SYNDROME 280000 : ZUNICH NEUROECTODERMAL SYNDROME | |
|
