1 100050 AARSKOG SYNDROME 2 100070 "AORTIC ANEURYSM, ABDOMINAL" 3 100100 "ABDOMINAL MUSCLES, ABSENCE OF, WITH URINARY TRACT ABNORMALITY AND CRYPTORCHIDISM" 4 100200 ABDUCENS PALSY 5 100300 ADAMS-OLIVER SYNDROME; AOS 6 100600 ACANTHOSIS NIGRICANS 7 100675 ACETAMINOPHEN METABOLISM 8 100700 ACHARD SYNDROME 9 100800 ACHONDROPLASIA; ACH 10 100820 ACHOO SYNDROME 11 101000 "NEUROFIBROMATOSIS, TYPE II; NF2" 12 101120 ACROCEPHALOPOLYSYNDACTYLY TYPE III 13 101200 APERT SYNDROME 14 101400 SAETHRE-CHOTZEN SYNDROME; SCS 15 101600 PFEIFFER SYNDROME 16 101800 ACRODYSOSTOSIS 17 101805 "ACROFACIAL DYSOSTOSIS, CATANIA TYPE" 18 101840 "ACROKERATODERMA, HEREDITARY PAPULOTRANSLUCENT" 19 101850 ACROKERATOELASTOIDOSIS; AKE 20 101900 ACROKERATOSIS VERRUCIFORMIS; AKV 21 102000 "ACROLEUKOPATHY, SYMMETRIC" 22 102100 "ACROMEGALOID CHANGES, CUTIS VERTICIS GYRATA, AND CORNEAL LEUKOMA" 23 102150 ACROMEGALOID FACIAL APPEARANCE SYNDROME 24 102200 "PITUITARY ADENOMA, GROWTH HORMONE-SECRETING" 25 102300 "RESTLESS LEGS SYNDROME, SUSCEPTIBILITY TO, 1" 26 102350 ACROMIAL DIMPLES 27 102370 ACROMICRIC DYSPLASIA 28 102400 ACROOSTEOLYSIS 29 102490 MOVED TO 607323 30 102500 ACROOSTEOLYSIS WITH OSTEOPOROSIS AND CHANGES IN SKULL AND MANDIBLE 31 102510 "ACROPECTOROVERTEBRAL DYSPLASIA, F-FORM OF" 32 102520 ACRORENAL SYNDROME 33 102530 GLOBOZOOSPERMIA 34 102650 "ADACTYLIA, UNILATERAL" 35 102660 ADAMANTINOMA OF LONG BONES 36 102700 "SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY" 37 102800 "ADENOSINE TRIPHOSPHATASE DEFICIENCY, ANEMIA DUE TO" 38 102900 "ADENOSINE TRIPHOSPHATE, ELEVATED, OF ERYTHROCYTES" 39 103050 ADENYLOSUCCINASE DEFICIENCY 40 103100 ADIE PUPIL 41 103200 ADIPOSIS DOLOROSA 42 103230 "ADRENOCORTICAL HYPOFUNCTION, CHRONIC PRIMARY CONGENITAL" 43 103285 ADULT SYNDROME 44 103300 AGLOSSIA-ADACTYLIA 45 103400 AINHUM 46 103420 "ALACRIMA, CONGENITAL" 47 103470 "ALBINISM, OCULAR, WITH SENSORINEURAL DEAFNESS" 48 103500 TIETZ SYNDROME 49 103580 ALBRIGHT HEREDITARY OSTEODYSTROPHY; AHO 50 103581 ALBRIGHT HEREDITARY OSTEODYSTROPHY 2 51 103780 ALCOHOL DEPENDENCE 52 103800 MOVED TO 253200 AND 258870 53 103900 GLUCOCORTICOID-REMEDIABLE ALDOSTERONISM; GRA 54 103920 ALLERGIC BRONCHOPULMONARY ASPERGILLOSIS 55 104000 ALOPECIA AREATA 1 56 104100 ALOPECIA CONGENITA WITH KERATOSIS PALMOPLANTARIS 57 104110 "ALOPECIA, FAMILIAL FOCAL" 58 104130 "ALOPECIA, PSYCHOMOTOR EPILEPSY, PYORRHEA, AND MENTAL SUBNORMALITY" 59 104200 "ALPORT SYNDROME, AUTOSOMAL DOMINANT" 60 104290 ALTERNATING HEMIPLEGIA OF CHILDHOOD 61 104300 ALZHEIMER DISEASE; AD 62 104310 ALZHEIMER DISEASE 2 63 104350 "AMASTIA, BILATERAL, WITH URETERAL TRIPLICATION AND DYSMORPHISM" 64 104400 AMELIA AND TERMINAL TRANSVERSE HEMIMELIA 65 104500 "AMELOGENESIS IMPERFECTA, TYPE IB; AI1B" 66 104510 "AMELOGENESIS IMPERFECTA, TYPE IV; AI4" 67 104530 "AMELOGENESIS IMPERFECTA, HYPOPLASTIC TYPE MICRODONTIA, GENERALIZED, INCLUDED" 68 104570 AMELOONYCHOHYPOHIDROTIC SYNDROME 69 104600 AMENORRHEA-GALACTORRHEA SYNDROME 70 105120 AMYLOIDOSIS V 71 105150 AMYLOIDOSIS VI 72 105200 "AMYLOIDOSIS, FAMILIAL VISCERAL" 73 105210 AMYLOIDOSIS VII 74 105250 "AMYLOIDOSIS, PRIMARY CUTANEOUS" 75 105300 AMYOTROPHIC DYSTONIC PARAPLEGIA 76 105400 AMYOTROPHIC LATERAL SCLEROSIS 1; ALS1 77 105500 AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM/DEMENTIA COMPLEX 1 78 105550 AMYOTROPHIC LATERAL SCLEROSIS AND/OR FRONTOTEMPORAL DEMENTIA 1; ALSFTD1 79 105563 ANAL SPHINCTER DYSPLASIA; ASDP 80 105565 "ANAL SPHINCTER MYOPATHY, INTERNAL" 81 105570 "ANDROSTENONE, ABILITY TO SMELL" 82 105580 "ANAL CANAL CARCINOMA CLOACOGENIC CARCINOMA, INCLUDED" 83 105600 "ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE III; CDAN3" 84 105650 DIAMOND-BLACKFAN ANEMIA; DBA 85 105800 "ANEURYSM, INTRACRANIAL BERRY, 1" 86 105805 ANEURYSM OF INTERVENTRICULAR SEPTUM 87 105830 ANGELMAN SYNDROME; AS 88 105835 ANGEL-SHAPED PHALANGOEPIPHYSEAL DYSPLASIA; ASPED 89 106050 "ANGIOMA SERPIGINOSUM, AUTOSOMAL DOMINANT" 90 106070 "ANGIOMA, HEREDITARY NEUROCUTANEOUS" 91 106100 "ANGIOEDEMA, HEREDITARY; HAE" 92 106200 ANIRIDIA; AN1 93 106210 "ANIRIDIA, TYPE II; AN2" 94 106220 ANIRIDIA AND ABSENT PATELLA 95 106230 "ANIRIDIA, MICROCORNEA, AND SPONTANEOUSLY REABSORBED CATARACT" 96 106240 ANISOCORIA 97 106250 ANKYLOBLEPHARON FILIFORME ADNATUM AND CLEFT PALATE 98 106260 ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE 99 106280 ANKYLOGLOSSIA 100 106300 "SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1; SPDA1" 101 106400 "ANKYLOSING VERTEBRAL HYPEROSTOSIS WITH TYLOSIS DIFFUSE IDIOPATHIC SKELETAL HYPEROSTOSIS, INCLUDED; DISH, INCLUDED" 102 106500 ANNULAR ERYTHEMA 103 106600 "TOOTH AGENESIS, SELECTIVE, 1; STHAG1" 104 106700 TOTAL ANOMALOUS PULMONARY VENOUS RETURN 1; TAPVR1 105 106750 ANONYCHIA WITH FLEXURAL PIGMENTATION 106 106900 ANONYCHIA-ECTRODACTYLY 107 106990 ANONYCHIA-ONYCHODYSTROPHY WITH BRACHYDACTYLY TYPE B AND ECTRODACTYLY 108 106995 ANONYCHIA-ONYCHODYSTROPHY WITH HYPOPLASIA OR ABSENCE OF DISTAL PHALANGES 109 107000 ANONYCHIA-ONYCHODYSTROPHY 110 107100 ANORECTAL ANOMALIES 111 107200 "ANOSMIA, CONGENITAL" 112 107250 ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS; ASMD 113 107300 ANTITHROMBIN III DEFICIENCY 114 107320 ANTIPHOSPHOLIPID SYNDROME 115 107480 TOWNES-BROCKS SYNDROME; TBS 116 107500 AORTIC ARCH ANOMALY WITH PECULIAR FACIES AND MENTAL RETARDATION 117 107550 "AORTIC ARCH INTERRUPTION, FACIAL PALSY, AND RETINAL COLOBOMA" 118 107600 "APLASIA CUTIS CONGENITA, NONSYNDROMIC; ACC" 119 107601 APLASIA CUTIS CONGENITA AND COARCTATION OF AORTA; ACCCA 120 107640 "APNEA, CENTRAL SLEEP" 121 107650 "APNEA, OBSTRUCTIVE SLEEP" 122 107700 "APPENDICITIS, PRONENESS TO" 123 107800 ARCUS CORNEAE 124 107850 ARM FOLDING PREFERENCE 125 107900 "ARMS, MALFORMATION OF" 126 107950 ARRHENOBLASTOMA--THYROID ADENOMA 127 107970 "ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 1; ARVD1" 128 108000 "ARTERIES, ANOMALIES OF" 129 108010 ARTERIOVENOUS MALFORMATIONS OF THE BRAIN 130 108050 "ARTERITIS, FAMILIAL GRANULOMATOUS, WITH JUVENILE POLYARTHRITIS" 131 108100 "ARTHRITIS, SACROILIAC" 132 108110 ARTHROGRYPOSIS MULTIPLEX CONGENITA; AMC 133 108120 "ARTHROGRYPOSIS, DISTAL, TYPE 1; DA1" 134 108130 MOVED TO 601680 135 108140 MOVED TO 601680 136 108145 "ARTHROGRYPOSIS, DISTAL, TYPE 5; DA5" 137 108200 ARTHROGRYPOSIS-LIKE HAND ANOMALY AND SENSORINEURAL DEAFNESS 138 108300 "STICKLER SYNDROME, TYPE I; STL1" 139 108320 "ARTICHOKE, MODIFICATION OF TASTE BY" 140 108340 ARYL HYDROCARBON HYDROXYLASE INDUCIBILITY 141 108390 "ASPARAGUS, SPECIFIC SMELL HYPERSENSITIVITY" 142 108450 ASYMMETRIC SHORT STATURE SYNDROME 143 108500 "EPISODIC ATAXIA, TYPE 2; EA2" 144 108600 "ATAXIA, SPASTIC, 1, AUTOSOMAL DOMINANT; SPAX1" 145 108650 "ATAXIA, SPASTIC, WITH CONGENITAL MIOSIS" 146 108700 ATAXIA WITH FASCICULATIONS 147 108720 "ATELOSTEOGENESIS, TYPE I; AOI" 148 108721 "ATELOSTEOGENESIS, TYPE III; AOIII" 149 108725 ATHEROSCLEROSIS SUSCEPTIBILITY; ATHS 150 108760 ATRESIA OF EXTERNAL AUDITORY CANAL AND CONDUCTION DEAFNESS 151 108770 ATRIAL STANDSTILL 152 108800 ATRIAL SEPTAL DEFECT 1; ASD1 153 108900 ATRIAL SEPTAL DEFECT WITH ATRIOVENTRICULAR CONDUCTION DEFECTS 154 108950 ATRIAL TACHYARRHYTHMIA WITH SHORT PR INTERVAL 155 108985 SVEINSSON CHORIORETINAL ATROPHY; SCRA 156 109000 AURICULOOSTEODYSPLASIA 157 109050 AUROCEPHALOSYNDACTYLY 158 109100 AUTOIMMUNE DISEASE 159 109120 "AXENFELD-RIEGER ANOMALY WITH PARTIALLY ABSENT EYE MUSCLES, DISTINCTIVE FACE, HYDROCEPHALY, AND SKELETAL ABNORMALITIES" 160 109130 AXIAL OSTEOMALACIA 161 109150 MACHADO-JOSEPH DISEASE; MJD 162 109160 "AZOTEMIA, FAMILIAL" 163 109200 "ALOPECIA, ANDROGENETIC" 164 109300 BANKI SYNDROME 165 109350 GASTROESOPHAGEAL REFLUX 166 109390 MOVED TO 301845 167 109400 BASAL CELL NEVUS SYNDROME; BCNS 168 109500 "BASILAR IMPRESSION, PRIMARY" 169 109543 "B-CELL MALIGNANCY, LOW-GRADE" 170 109560 B-CELL LEUKEMIA/LYMPHOMA 3; BCL3 171 109650 BEHCET SYNDROME 172 109720 "BILIARY CIRRHOSIS, PRIMARY; PBC" 173 109730 AORTIC VALVE DISEASE 174 109740 BIFID NOSE 175 109800 BLADDER CANCER 176 109820 BLADDER DIVERTICULUM 177 109900 BLEPHAROCHALASIS AND DOUBLE LIP 178 110000 "BLEPHAROCHALASIS, SUPERIOR" 179 110050 BLEPHARONASOFACIAL MALFORMATION SYNDROME 180 110100 "BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS; BPES" 181 110150 "BLEPHAROPTOSIS, MYOPIA, AND ECTOPIA LENTIS" 182 110720 BLOOD GROUP--En 183 110800 BLOOD GROUP--I SYSTEM; Ii 184 111360 BLOOD GROUP--NEWFOUNDLAND; NFLD 185 111400 "BLOOD GROUP, P SYSTEM" 186 111500 BLOOD GROUP--PRIVATE SYSTEMS 187 111600 BLOOD GROUP--PUBLIC SYSTEMS 188 111800 BLOOD GROUP--STOLTZFUS SYSTEM; Sf 189 112200 BLUE RUBBER BLEB NEVUS 190 112240 "BONE FRAGILITY WITH CRANIOSYNOSTOSIS, OCULAR PROPTOSIS, HYDROCEPHALUS, AND DISTINCTIVE FACIAL FEATURES" 191 112250 DIAPHYSEAL MEDULLARY STENOSIS WITH MALIGNANT FIBROUS HISTIOCYTOMA 192 112270 "BONE PAIN, PERIODIC" 193 112300 BOOK SYNDROME 194 112310 BOOMERANG DYSPLASIA 195 112350 "BOWING OF LEGS, ANTERIOR, WITH DWARFISM" 196 112370 "BRACHMANN-DE LANGE-LIKE FACIAL CHANGES WITH MICROCEPHALY, METATARSUS ADDUCTUS, AND DEVELOPMENTAL DELAY" 197 112410 HYPERTENSION WITH BRACHYDACTYLY 198 112430 "BRACHYDACTYLY, LONG-THUMB TYPE" 199 112440 "BRACHYDACTYLY, COMBINED B AND E TYPES" 200 112450 "BRACHYDACTYLY, PREAXIAL, WITH HALLUX VARUS AND THUMB ABDUCTION" 201 112500 "BRACHYDACTYLY, TYPE A1; BDA1" 202 112600 "BRACHYDACTYLY, TYPE A2; BDA2" 203 112700 "BRACHYDACTYLY, TYPE A3; BDA3" 204 112800 "BRACHYDACTYLY, TYPE A4; BDA4" 205 112900 "BRACHYDACTYLY, TYPE A5, WITH NAIL DYSPLASIA" 206 112910 "BRACHYDACTYLY, TYPE A6; BDA6" 207 113000 "BRACHYDACTYLY, TYPE B1; BDB1" 208 113100 "BRACHYDACTYLY, TYPE C; BDC" 209 113200 "BRACHYDACTYLY, TYPE D; BDD" 210 113300 "BRACHYDACTYLY, TYPE E; BDE" 211 113301 "BRACHYDACTYLY, TYPE E, WITH ATRIAL SEPTAL DEFECT, TYPE II" 212 113310 BRACHYDACTYLY-ECTRODACTYLY WITH FIBULAR APLASIA OR HYPOPLASIA 213 113400 BRACHYDACTYLY-NYSTAGMUS-CEREBELLAR ATAXIA 214 113450 BRACHYDACTYLY-DISTAL SYMPHALANGISM SYNDROME 215 113470 BRACHYMESOMELIA-RENAL SYNDROME 216 113475 BRACHYMETATARSUS IV 217 113477 BRACHYMORPHISM-ONYCHODYSPLASIA-DYSPHALANGISM SYNDROME 218 113480 BRACHYTELEPHALANGY WITH CHARACTERISTIC FACIES AND KALLMANN SYNDROME 219 113500 BRACHYRACHIA 220 113600 "BRANCHIAL CLEFT ANOMALIES BRANCHIAL CYSTS, INCLUDED" 221 113610 BRANCHIAL MYOCLONUS WITH SPASTIC PARAPARESIS AND CEREBELLAR ATAXIA 222 113620 "BRANCHIAL CLEFTS WITH CHARACTERISTIC FACIES, GROWTH RETARDATION, IMPERFORATE NASOLACRIMAL DUCT, AND PREMATURE AGING" 223 113650 BRANCHIOOTORENAL SYNDROME 1; BOR1 224 113670 "BREAST, UNILATERAL GIANT" 225 113700 "BREASTS AND NIPPLES, ABSENCE OF" 226 113705 BREAST CANCER 1 GENE; BRCA1 227 113750 "SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 4; SHEP4" 228 113800 BULLOUS ERYTHRODERMA ICHTHYOSIFORMIS CONGENITA OF BROCQ 229 113900 "PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA; PFHB1A" 230 113950 "BUNDLE BRANCH BLOCK, FAMILIAL ISOLATED COMPLETE RIGHT" 231 113970 BURKITT LYMPHOMA; BL 232 114000 CAFFEY DISEASE 233 114030 "CAFE-AU-LAIT SPOTS, MULTIPLE" 234 114100 "BASAL GANGLIA CALCIFICATION, IDIOPATHIC, CHILDHOOD-ONSET" 235 114120 MOVED TO 211900 236 114140 "CALLOSITIES, HEREDITARY PAINFUL" 237 114150 CAMPTOBRACHYDACTYLY 238 114200 "CAMPTODACTYLY STREBLODACTYLY, INCLUDED" 239 114290 CAMPOMELIC DYSPLASIA 240 114300 GORDON SYNDROME 241 114400 MOVED TO 120435 242 114450 "CANCER, FAMILIAL, WITH IN VITRO RADIORESISTANCE" 243 114480 BREAST CANCER 244 114500 COLORECTAL CANCER; CRC 245 114550 HEPATOCELLULAR CARCINOMA 246 114580 "CANDIDIASIS, FAMILIAL CHRONIC MUCOCUTANEOUS, AUTOSOMAL DOMINANT" 247 114600 "CANINE TEETH, ABSENCE OF UPPER PERMANENT" 248 114620 CANTU SYNDROME 249 114650 CAR FACTOR DEFICIENCY 250 114700 CARABELLI ANOMALY OF MAXILLARY MOLAR TEETH 251 114900 "CARCINOID TUMORS, INTESTINAL" 252 115000 CARDIAC ARRHYTHMIA 253 115080 CARDIAC CONDUCTION DEFECT 254 115150 CARDIOFACIOCUTANEOUS SYNDROME 255 115195 "CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 2; CMH2" 256 115196 "CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 3; CMH3" 257 115197 "CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4; CMH4" 258 115198 MOVED TO 192600 AND 115197 259 115200 "CARDIOMYOPATHY, DILATED, 1A; CMD1A" 260 115210 "CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1; RCM1" 261 115250 CARDIOMYOPATHY-HYPOGONADISM-COLLAGENOMA SYNDROME 262 115300 "CAROTENEMIA, FAMILIAL" 263 115310 PARAGANGLIOMAS 4; PGL4 264 115400 CARPAL DISPLACEMENT 265 115430 CARPAL TUNNEL SYNDROME; CTS1 266 115470 CAT EYE SYNDROME; CES 267 115645 "CATARACT, ABERRANT ORAL FRENULA, AND GROWTH RETARDATION" 268 115650 "CATARACT, ANTERIOR POLAR, 1; CTAA1" 269 115660 "CATARACT, CONGENITAL, CERULEAN TYPE, 1; CCA1" 270 115665 "CATARACT, CONGENITAL, VOLKMANN TYPE; CCV" 271 115700 "CATARACT, CRYSTALLINE ACULEIFORM" 272 115800 "CATARACT, CRYSTALLINE CORALLIFORM" 273 115900 "CATARACT, FLORIFORM" 274 116100 "CATARACT, MEMBRANOUS" 275 116150 CATARACT-MICROCORNEA SYNDROME 276 116200 "CATARACT, ZONULAR PULVERULENT 1; CZP1" 277 116300 "CATARACT, NUCLEAR DIFFUSE NONPROGRESSIVE" 278 116400 "CATARACT, NUCLEAR TOTAL" 279 116600 "CATARACT, POSTERIOR POLAR, 1; CTPP1" 280 116700 "CATARACT, TOTAL CONGENITAL; CC" 281 116800 "CATARACT, LAMELLAR" 282 116850 CATATRICHY 283 116860 CEREBRAL CAVERNOUS MALFORMATIONS; CCM 284 116870 CELIAC ARTERY STENOSIS FROM COMPRESSION BY MEDIAN ARCUATE LIGAMENT OF DIAPHRAGM 285 116920 "LEUKOCYTE ADHESION DEFICIENCY, TYPE I; LAD" 286 117000 CENTRAL CORE DISEASE OF MUSCLE 287 117100 CENTRALOPATHIC EPILEPSY 288 117210 "SPINOCEREBELLAR ATAXIA, 16q22-LINKED" 289 117300 "DEMENTIA, FAMILIAL DANISH; FDD" 290 117350 MOVED TO 183090 291 117360 SPINOCEREBELLAR ATAXIA 29 292 117400 MOVED TO 164400 AND 117210 293 117550 SOTOS SYNDROME 294 117600 CEREBRAL SARCOMA 295 117650 CEREBROCOSTOMANDIBULAR SYNDROME 296 117800 "EAR WAX, WET/DRY" 297 117850 CERVICAL HYPERTRICHOSIS WITH UNDERLYING KYPHOSCOLIOSIS 298 117900 CERVICAL RIB 299 118000 CERVICAL VERTEBRAL BRIDGE 300 118005 CERVICAL VERTEBRAL DYSPLASIA 301 118100 "KLIPPEL-FEIL SYNDROME, AUTOSOMAL DOMINANT" 302 118200 "CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B; CMT1B" 303 118210 "CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A1; CMT2A1" 304 118220 "CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A; CMT1A" 305 118300 CHARCOT-MARIE-TOOTH DISEASE AND DEAFNESS 306 118330 CHEILITIS GLANDULARIS 307 118350 "CHEMODECTOMA, INTRAABDOMINAL, WITH CUTANEOUS ANGIOLIPOMAS" 308 118400 CHERUBISM 309 118420 CHIARI MALFORMATION TYPE I 310 118430 CHLORPROPAMIDE-ALCOHOL FLUSHING; CPAF 311 118450 ALAGILLE SYNDROME 1; ALGS1 312 118600 CHONDROCALCINOSIS 2; CCAL2 313 118610 CHONDROCALCINOSIS DUE TO APATITE CRYSTAL DEPOSITION 314 118650 "CHONDRODYSPLASIA PUNCTATA, AUTOSOMAL DOMINANT" 315 118651 "CHONDRODYSPLASIA PUNCTATA, TIBIA-METACARPAL TYPE" 316 118700 "CHOREA, BENIGN HEREDITARY; BHC" 317 118750 "CHOREOATHETOSIS, FAMILIAL INVERTED" 318 118800 PAROXYSMAL NONKINESIGENIC DYSKINESIA 1; PNKD1 319 118865 "CHOROIDAL OSTEOMA, BILATERAL" 320 118900 "CIRRHOSIS, FAMILIAL" 321 118980 "CLAVICLE, PSEUDARTHROSIS OF, CONGENITAL" 322 119000 CLEFT CHIN 323 119100 SPLIT-HAND/FOOT MALFORMATION WITH LONG BONE DEFICIENCY 1; SHFLD1 324 119300 VAN DER WOUDE SYNDROME; VWS 325 119500 POPLITEAL PTERYGIUM SYNDROME; PPS 326 119530 OROFACIAL CLEFT 1; OFC1 327 119540 "CLEFT PALATE, ISOLATED; CPI" 328 119550 CLEFT PALATE-LATERAL SYNECHIA SYNDROME 329 119570 CLEFT SOFT PALATE 330 119580 BLEPHAROCHEILODONTIC SYNDROME 331 119600 CLEIDOCRANIAL DYSPLASIA; CCD 332 119650 CLEIDORHIZOMELIC SYNDROME 333 119800 CLUBFOOT 334 119900 CLUBBING OF DIGITS 335 119915 "CLUSTER HEADACHE, FAMILIAL" 336 120000 COARCTATION OF AORTA 337 120040 COCHLEOSACCULAR DEGENERATION OF THE INNER EAR WITH PROGRESSIVE CATARACTS 338 120100 FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1; FCAS1 339 120200 "COLOBOMA, OCULAR" 340 120300 COLOBOMA OF MACULA 341 120330 PAPILLORENAL SYNDROME 342 120400 COLOBOMA OF MACULA WITH TYPE B BRACHYDACTYLY 343 120430 COLOBOMA OF OPTIC NERVE 344 120433 "COLOBOMA, UVEAL, WITH CLEFT LIP AND PALATE AND MENTAL RETARDATION" 345 120435 LYNCH SYNDROME I 346 120436 "MutL, E. COLI, HOMOLOG OF, 1; MLH1" 347 120440 COLONIC VARICES WITHOUT PORTAL HYPERTENSION 348 120450 "COMEDONES, FAMILIAL DYSKERATOTIC" 349 120500 COMMISSURAL LIP PITS 350 120502 BRANCHIOOTIC SYNDROME 2 351 120790 "COMPLEMENT COMPONENT 4, PARTIAL DEFICIENCY OF" 352 120900 COMPLEMENT COMPONENT 5; C5 353 120950 "COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE I" 354 120960 "COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE II" 355 120970 CONE-ROD DYSTROPHY 2; CORD2 356 121050 "CONTRACTURAL ARACHNODACTYLY, CONGENITAL" 357 121070 "ARTHROGRYPOSIS, DISTAL, TYPE 2E" 358 121200 "EPILEPSY, BENIGN NEONATAL, 1; EBN1" 359 121201 "EPILEPSY, BENIGN NEONATAL, 2; EBN2" 360 121210 "FEBRILE CONVULSIONS, FAMILIAL, 1; FEB1" 361 121270 "COPPER DEFICIENCY, FAMILIAL BENIGN" 362 121300 COPROPORPHYRIA 363 121350 "CORACOCLAVICULAR JOINT, ANOMALOUS" 364 121390 CORNEA GUTTATA WITH ANTERIOR POLAR CATARACTS 365 121400 CORNEA PLANA 1; CNA1 366 121450 "CORNEAL DEGENERATION, RIBBONLIKE, WITH DEAFNESS" 367 121700 CORNEAL ENDOTHELIAL DYSTROPHY 1; CHED1 368 121800 "CORNEAL DYSTROPHY, CRYSTALLINE, OF SCHNYDER" 369 121850 CORNEAL FLECK DYSTROPHY 370 121900 GROENOUW TYPE I CORNEAL DYSTROPHY; CDGG1 371 122000 "CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 1; PPCD1" 372 122100 "CORNEAL DYSTROPHY, JUVENILE EPITHELIAL, OF MEESMANN" 373 122200 "CORNEAL DYSTROPHY, LATTICE TYPE I; CDL1" 374 122400 "CORNEAL EROSIONS, RECURRING HEREDITARY" 375 122430 "CORNEAL HYPESTHESIA WITH RETINAL ABNORMALITIES, SENSORINEURAL DEAFNESS, UNUSUAL FACIES, PERSISTENT DUCTUS ARTERIOSUS, AND MENTAL RETARDATION" 376 122440 CORNEODERMATOOSSEOUS SYNDROME 377 122450 "CORNEAL HYPESTHESIA, FAMILIAL" 378 122455 "CORONARY ARTERY DISSECTION, SPONTANEOUS" 379 122470 CORNELIA DE LANGE SYNDROME 1; CDLS1 380 122580 "COSTOCORACOID LIGAMENT, CONGENITALLY SHORT" 381 122600 COSTOVERTEBRAL SEGMENTATION ANOMALIES 382 122700 COUMARIN RESISTANCE 383 122750 COXA VARA 384 122780 COXOAURICULAR SYNDROME 385 122850 CRANIOACROFACIAL SYNDROME 386 122860 "CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT; CDD" 387 122880 CRANIOFACIAL-DEAFNESS-HAND SYNDROME; CDHS 388 122900 CRANIOFACIAL DYSOSTOSIS WITH DIAPHYSEAL HYPERPLASIA 389 122920 MOVED TO 304110 390 123000 "CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT; CMDD" 391 123050 CRANIORHINY 392 123100 "CRANIOSYNOSTOSIS, TYPE 1; CRS1" 393 123150 JACKSON-WEISS SYNDROME; JWS 394 123155 "CRANIOSYNOSTOSIS, SAGITTAL, WITH DANDY-WALKER MALFORMATION AND HYDROCEPHALUS" 395 123320 "CREATINE PHOSPHOKINASE, ELEVATED SERUM" 396 123400 CREUTZFELDT-JAKOB DISEASE; CJD 397 123450 CRI-DU-CHAT SYNDROME 398 123500 CROUZON SYNDROME 399 123540 "CRYOFIBRINOGENEMIA, FAMILIAL PRIMARY" 400 123550 "CRYOGLOBULINEMIA, FAMILIAL MIXED" 401 123557 "CRYPTOTIA, FAMILIAL" 402 123560 CRYPTOMICROTIA-BRACHYDACTYLY SYNDROME 403 123570 "CRYPTOPHTHALMOS, UNILATERAL OR BILATERAL, ISOLATED" 404 123700 "CUTIS LAXA, AUTOSOMAL DOMINANT" 405 123790 CUTIS GYRATA SYNDROME OF BEARE AND STEVENSON 406 123853 CYPRUS FACIAL NEUROMUSCULOSKELETAL SYNDROME 407 123880 "CYSTIC ANGIOMATOSIS OF BONE, DIFFUSE" 408 124100 DANUBIAN ENDEMIC FAMILIAL NEPHROPATHY 409 124200 DARIER-WHITE DISEASE; DAR 410 124300 DARWINIAN POINT OF PINNA 411 124400 DARWINIAN TUBERCLE OF PINNA 412 124480 "DEAFNESS, CONGENITAL, AND ONYCHODYSTROPHY, DOMINANT FORM" 413 124490 "DEAFNESS, CONDUCTIVE STAPEDIAL, WITH EAR MALFORMATION AND FACIAL PALSY" 414 124500 "DEAFNESS, CONGENITAL, WITH KERATOPACHYDERMIA AND CONSTRICTIONS OF FINGERS AND TOES" 415 124700 "DEAFNESS, MID-TONE NEURAL" 416 124800 "DEAFNESS, PROGRESSIVE HIGH-TONE NEURAL" 417 124900 "DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 1; DFNA1" 418 124910 MOVED TO 124900 419 125000 "DEAFNESS, UNILATERAL" 420 125050 DEAFNESS WITH ANHIDROTIC ECTODERMAL DYSPLASIA 421 125100 MOVED TO 602588 422 125230 DEAFNESS-CRANIOFACIAL SYNDROME 423 125250 "OPTIC ATROPHY 1 AND DEAFNESS OPTIC ATROPHY, DEAFNESS, OPHTHALMOPLEGIA, AND MYOPATHY, INCLUDED" 424 125280 DENS EVAGINATUS 425 125300 DENS IN DENTE AND PALATAL INVAGINATIONS 426 125310 "CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY; CADASIL" 427 125320 DEMENTIA/PARKINSONISM WITH NON-ALZHEIMER AMYLOID PLAQUES 428 125350 DENTAL NONERUPTION 429 125370 DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY; DRPLA 430 125400 "DENTIN DYSPLASIA, TYPE I" 431 125420 "DENTIN DYSPLASIA, TYPE II" 432 125440 DENTIN DYSPLASIA WITH SCLEROTIC BONES 433 125460 DEOXYRIBOSE-5-PHOSPHATE ALDOLASE DEFICIENCY 434 125480 MAJOR AFFECTIVE DISORDER 1; MAFD1 435 125490 DENTINOGENESIS IMPERFECTA 1; DGI1 436 125500 "DENTINOGENESIS IMPERFECTA, SHIELDS TYPE III" 437 125520 CAYLER CARDIOFACIAL SYNDROME 438 125530 "DERMAL RIDGES, NELSON SYNDROME" 439 125540 "DERMAL RIDGES, PATTERNLESS" 440 125550 DERMAL RIDGES-OFF-THE-END 441 125570 DERMATOGLYPHICS--ARCH ON ANY DIGIT 442 125580 DERMATOGLYPHICS--FINGER RIDGE COUNT 443 125590 DERMATOGLYPHICS--FINGERPRINT PATTERN 444 125595 DERMATOPATHIA PIGMENTOSA RETICULARIS; DPR 445 125600 DERMATOSIS PAPULOSA NIGRA 446 125630 DERMODISTORTIVE URTICARIA; DDU 447 125635 "DERMOGRAPHISM, FAMILIAL" 448 125640 DERMOODONTODYSPLASIA 449 125700 "DIABETES INSIPIDUS, NEUROHYPOPHYSEAL TYPE" 450 125800 "DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL" 451 125850 "MATURITY-ONSET DIABETES OF THE YOUNG, TYPE I; MODY1" 452 125851 "MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II; MODY2" 453 125852 "DIABETES MELLITUS, INSULIN-DEPENDENT, 2" 454 125853 "DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM" 455 125890 "DIARRHEA, GLUCOSE-STIMULATED SECRETORY, WITH COMMON VARIABLE IMMUNODEFICIENCY" 456 125900 "DIASTEMA, DENTAL MEDIAL" 457 126050 DIGITOTALAR DYSMORPHISM 458 126070 "DILUTION, PIGMENTARY" 459 126100 "DIMPLES, FACIAL" 460 126180 "DISCRIMINATION, TWO-POINT, REDUCTION IN" 461 126190 DISPROPORTIONATE SHORT STATURE WITH PTOSIS AND VALVULAR HEART LESIONS 462 126200 "MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO; MS" 463 126250 DISTAL OSTEOSCLEROSIS 464 126300 DISTICHIASIS 465 126320 DISTICHIASIS WITH CONGENITAL ANOMALIES OF THE HEART AND PERIPHERAL VASCULATURE 466 126500 DOUBLE NAIL FOR FIFTH TOE 467 126550 "DOUGHNUT LESIONS OF SKULL, FAMILIAL" 468 126600 DOYNE HONEYCOMB RETINAL DYSTROPHY; DHRD 469 126700 BASAL LAMINAR DRUSEN 470 126800 DUANE RETRACTION SYNDROME 1; DURS1 471 126840 DUODENAL ULCER DUE TO ANTRAL G-CELL HYPERFUNCTION 472 126850 "DUODENAL ULCER, HYPERPEPSINOGENEMIC I" 473 126900 DUPUYTREN CONTRACTURE 474 126950 DWARFISM WITH TALL VERTEBRAE 475 127000 "KENNY-CAFFEY SYNDROME, TYPE 2" 476 127100 "DWARFISM, LEVI TYPE" 477 127200 DWARFISM WITH STIFF JOINTS AND OCULAR ABNORMALITIES 478 127300 LERI-WEILL DYSCHONDROSTEOSIS; LWD 479 127350 DYSCHONDROSTEOSIS AND NEPHRITIS 480 127400 DYSCHROMATOSIS SYMMETRICA HEREDITARIA 1 481 127500 DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 482 127550 "DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT" 483 127600 "DYSKERATOSIS, HEREDITARY BENIGN INTRAEPITHELIAL" 484 127700 "DYSLEXIA, SUSCEPTIBILITY TO, 1; DYX1" 485 127750 "DEMENTIA, LEWY BODY; DLB" 486 127800 DYSPLASIA EPIPHYSEALIS HEMIMELICA 487 127820 DYSPLASIA EPIPHYSEALIS HEMIMELICA WITH CHONDROMAS AND OSTEOCHONDROMAS 488 128000 DYSTELEPHALANGY 489 128100 "DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT; DYT1" 490 128101 DYSTONIA MUSCULORUM DEFORMANS 4; DYT4 491 128200 EPISODIC KINESIGENIC DYSKINESIA 1; EKD1 492 128230 "DYSTONIA, DOPA-RESPONSIVE; DRD" 493 128235 DYSTONIA 12; DYT12 494 128300 EAR EXOSTOSES 495 128400 EAR FLARE 496 128500 EAR FOLDING 497 128600 EAR MALFORMATION 498 128700 "PREAURICULAR FISTULAE, CONGENITAL" 499 128710 "EAR PITS, POSTERIOR HELICAL" 500 128800 EAR WITHOUT HELIX 501 128900 EARLOBE ATTACHMENT: ATTACHED VS UNATTACHED 502 128980 "EARLOBES, THICKENED, WITH CONDUCTIVE DEAFNESS FROM INCUDOSTAPEDIAL ABNORMALITIES" 503 129000 "EARRING HOLES, NATURAL" 504 129100 "EARS, ABILITY TO MOVE" 505 129150 ECHO VIRUS 11 SENSITIVITY; E11S 506 129200 "ECTODERMAL DYSPLASIA, ABSENT DERMATOGLYPHIC PATTERN, CHANGES IN NAILS, AND SIMIAN CREASE" 507 129400 RAPP-HODGKIN SYNDROME; RHS 508 129490 ECTODERMAL DYSPLASIA 3; ED3 509 129500 "ECTODERMAL DYSPLASIA 2, HIDROTIC; ED2" 510 129510 "ECTODERMAL DYSPLASIA, TRICHOODONTOONYCHIAL TYPE" 511 129540 ECTODERMAL DYSPLASIA SYNDROME WITH DISTINCTIVE FACIAL APPEARANCE AND PREAXIAL POLYDACTYLY OF FEET 512 129550 ECTODERMAL DYSPLASIA WITH ADRENAL CYST 513 129600 "ECTOPIA LENTIS, ISOLATED" 514 129750 ECTOPIA PUPILLAE 515 129810 ECTRODACTYLY AND ECTODERMAL DYSPLASIA WITHOUT CLEFT LIP/PALATE 516 129830 ECTRODACTYLY-CLEFT PALATE SYNDROME 517 129840 "EDEMA, FAMILIAL IDIOPATHIC, PREPUBERTAL" 518 129850 EDINBURGH MALFORMATION SYNDROME 519 129900 "ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1; EEC1" 520 130000 "EHLERS-DANLOS SYNDROME, TYPE I" 521 130010 "EHLERS-DANLOS SYNDROME, TYPE II" 522 130020 "EHLERS-DANLOS SYNDROME, TYPE III" 523 130050 "EHLERS-DANLOS SYNDROME, TYPE IV, AUTOSOMAL DOMINANT" 524 130060 "EHLERS-DANLOS SYNDROME, TYPE VII, AUTOSOMAL DOMINANT" 525 130070 "EHLERS-DANLOS SYNDROME, PROGEROID FORM" 526 130080 "EHLERS-DANLOS SYNDROME, TYPE VIII" 527 130090 "EHLERS-DANLOS SYNDROME, AUTOSOMAL DOMINANT, TYPE UNSPECIFIED" 528 130100 ELASTOSIS PERFORANS SERPIGINOSA; EPS 529 130180 "ELECTROENCEPHALOGRAM, LOW-VOLTAGE" 530 130190 ELECTROENCEPHALOGRAPHIC PATTERNS; EEG 531 130600 "ELLIPTOCYTOSIS, RHESUS-UNLINKED TYPE" 532 130650 BECKWITH-WIEDEMANN SYNDROME; BWS 533 130700 "EMPHYSEMA, HEREDITARY PULMONARY" 534 130710 "EMPHYSEMA, CONGENITAL LOBAR; CLE" 535 130900 "AMELOGENESIS IMPERFECTA, TYPE III; AI3" 536 130950 "ENCEPHALOPATHY, RECURRENT, OF CHILDHOOD" 537 131100 "MULTIPLE ENDOCRINE NEOPLASIA, TYPE I; MEN1" 538 131200 "ENDOMETRIOSIS, SUSCEPTIBILITY TO, 1" 539 131300 CAMURATI-ENGELMANN DISEASE 540 131400 "EOSINOPHILIA, FAMILIAL" 541 131430 EOSINOPHILOPENIA 542 131440 "MYELOPROLIFERATIVE DISORDER, CHRONIC, WITH EOSINOPHILIA" 543 131445 "EPENDYMOMA, FAMILIAL" 544 131450 EPIBLEPHARON OF LOWER LID 545 131460 EPIBLEPHARON OF UPPER LID 546 131500 EPICANTHUS 547 131600 EPIDERMOID CYSTS 548 131705 TRANSIENT BULLOUS DERMOLYSIS OF THE NEWBORN; TBDN 549 131750 "EPIDERMOLYSIS BULLOSA DYSTROPHICA, PASINI TYPE" 550 131760 "EPIDERMOLYSIS BULLOSA HERPETIFORMIS, DOWLING-MEARA TYPE" 551 131800 EPIDERMOLYSIS BULLOSA OF HANDS AND FEET 552 131850 "EPIDERMOLYSIS BULLOSA, PRETIBIAL" 553 131880 EPIDERMOLYSIS BULLOSA WITH DEFICIENCY OF GALACTOSYLHYDROXYLYSYL GLUCOSYLTRANSFERASE 554 131900 "EPIDERMOLYSIS BULLOSA SIMPLEX, KOEBNER TYPE; EBS2" 555 131950 "EPIDERMOLYSIS BULLOSA SIMPLEX, OGNA TYPE" 556 131960 EPIDERMOLYSIS BULLOSA SIMPLEX WITH MOTTLED PIGMENTATION; EBS-MP 557 132000 EPIDERMOLYSIS BULLOSA WITH CONGENITAL LOCALIZED ABSENCE OF SKIN AND DEFORMITY OF NAILS 558 132090 "EPILEPSY, BENIGN OCCIPITAL; BOE" 559 132100 "EPILEPSY, PHOTOGENIC" 560 132300 "EPILEPSY, READING" 561 132400 "EPIPHYSEAL DYSPLASIA, MULTIPLE, 1; EDM1" 562 132450 "EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND CONDUCTIVE DEAFNESS" 563 132500 "EPISTAXIS, HEREDITARY" 564 132600 PILOMATRIXOMA 565 132700 "CYLINDROMATOSIS, FAMILIAL; CYLD" 566 132800 MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA; MSSE 567 132900 "AORTIC ANEURYSM, FAMILIAL THORACIC 4" 568 132990 "ERYTHEMA NODOSUM, FAMILIAL" 569 133000 ERYTHEMA PALMARE HEREDITARIUM 570 133020 "ERYTHERMALGIA, PRIMARY" 571 133100 "ERYTHROCYTOSIS, FAMILIAL, 1" 572 133180 "ERYTHROLEUKEMIA, FAMILIAL" 573 133190 ERYTHROKERATODERMIA WITH ATAXIA 574 133200 ERYTHROKERATODERMIA VARIABILIS; EKV 575 133239 "ESOPHAGEAL CANCER ESOPHAGEAL SQUAMOUS CELL CARCINOMA, INCLUDED; ESCC, INCLUDED" 576 133240 "ESOPHAGEAL RING, LOWER" 577 133450 EWING SARCOMA BREAKPOINT REGION 1; EWSR1 578 133500 "EXCHONDROSIS OF PINNA, POSTERIOR" 579 133600 EXOSTOSES OF HEEL 580 133690 "EXOSTOSES WITH ANETODERMIA AND BRACHYDACTYLY, TYPE E" 581 133700 "EXOSTOSES, MULTIPLE, TYPE I" 582 133701 "EXOSTOSES, MULTIPLE, TYPE II" 583 133705 "EXTERNAL AUDITORY CANAL, BILATERAL ATRESIA OF, WITH CONGENITAL VERTICAL TALUS" 584 133750 "EXTRASYSTOLES, MULTIFORM VENTRICULAR, WITH SHORT STATURE, HYPERPIGMENTATION AND MICROCEPHALY" 585 133780 EXUDATIVE VITREORETINOPATHY 1; EVR1 586 133800 "EYEBROW, WHORL IN" 587 133900 FACIAL ASYMMETRY 588 134000 FACIAL HYPERTRICHOSIS 589 134100 MOVED TO 601471 590 134200 "FACIAL PALSY, FAMILIAL RECURRENT PERIPHERAL" 591 134300 FACIAL SPASM 592 134400 FACTOR V EXCESS WITH SPONTANEOUS THROMBOSIS 593 134430 "FACTOR VII AND FACTOR VIII, COMBINED DEFICIENCY OF" 594 134500 FACTOR VIII DEFICIENCY 595 134510 "FACTOR VIII AND FACTOR IX, COMBINED DEFICIENCY OF; F8FD9" 596 134520 "FACTORS VIII, IX AND XI, COMBINED DEFICIENCY OF" 597 134540 "FACTOR IX AND FACTOR XI, COMBINED DEFICIENCY OF" 598 134600 FANCONI RENOTUBULAR SYNDROME 599 134610 "FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL DOMINANT" 600 134700 "FAVISM, SUSCEPTIBILITY TO" 601 134750 FELTY SYNDROME 602 134780 FEMORAL-FACIAL SYNDROME; FFS 603 134900 FIBRINOLYTIC DEFECT 604 135100 FIBRODYSPLASIA OSSIFICANS PROGRESSIVA; FOP 605 135150 BIRT-HOGG-DUBE SYNDROME; BHD 606 135290 "DESMOID DISEASE, HEREDITARY" 607 135300 "FIBROMATOSIS, GINGIVAL, 1; GINGF" 608 135400 "FIBROMATOSIS, GINGIVAL, WITH HYPERTRICHOSIS" 609 135500 ZIMMERMANN-LABAND SYNDROME; ZLS 610 135550 "FIBROMATOSIS, GINGIVAL, WITH PROGRESSIVE DEAFNESS" 611 135580 FIBROMUSCULAR DYSPLASIA OF ARTERIES 612 135700 "FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1; CFEOM1" 613 135750 LAURIN-SANDROW SYNDROME 614 135800 "FIBULA, RECURRENT DISLOCATION OF HEAD OF" 615 135900 COFFIN-SIRIS SYNDROME 616 135950 "FINGER LOCKING, RECURRENT, WITH INTRAUTERINE GROWTH RETARDATION AND PROPORTIONATE SHORT STATURE" 617 136000 "FINGERPRINTS, ABSENCE OF" 618 136100 "FINGERS, RELATIVE LENGTH OF" 619 136120 FISH-EYE DISEASE; FED 620 136140 FLOATING-HARBOR SYNDROME 621 136150 FLOOD FACTOR DEFICIENCY 622 136200 FLUSHING OF EARS AND SOMNOLENCE 623 136300 FLYNN-AIRD SYNDROME 624 136400 FOCAL EPITHELIAL HYPERPLASIA OF THE ORAL MUCOSA 625 136480 "FOURTH CRANIAL NERVE PALSY, FAMILIAL CONGENITAL" 626 136500 FOCAL FACIAL DERMAL DYSPLASIA 627 136520 FOVEAL HYPOPLASIA AND PRESENILE CATARACT SYNDROME 628 136540 FRAGILE SITE 10q23 629 136550 "MACULAR DYSTROPHY, RETINAL, 1, NORTH CAROLINA TYPE; MCDR1" 630 136580 FRAGILE SITE 16q22; FRA16A 631 136600 "FRIEDREICH ATAXIA, SO-CALLED, WITH OPTIC ATROPHY AND SENSORINEURAL DEAFNESS" 632 136610 FRAGILE SITE 2q11 633 136630 "MENTAL RETARDATION, FRA12A TYPE" 634 136660 FRAGILE SITE 17p12 635 136680 FRASIER SYNDROME 636 136760 FRONTONASAL DYSPLASIA 637 136800 "CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 1; FECD1" 638 136880 "FUNDUS ALBIPUNCTATUS RETINITIS PUNCTATA ALBESCENS, INCLUDED" 639 136900 "FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY; SFD" 640 137000 FUTCHER LINE 641 137040 "GALLBLADDER, AGENESIS OF" 642 137050 "GAMMA-A-GLOBULIN, DEFECT IN ASSEMBLY OF" 643 137100 IMMUNOGLOBULIN A DEFICIENCY 1; IGAD1 644 137130 GASTRIC SNEEZING 645 137200 GAMSTORP-WOHLFART SYNDROME 646 137210 "GASTRIC VOLVULUS, INTRATHORACIC" 647 137215 GASTRIC CANCER 648 137245 "GASTRIC LYMPHOMA, PRIMARY" 649 137270 GASTROCUTANEOUS SYNDROME 650 137280 "GASTRITIS, FAMILIAL GIANT HYPERTROPHIC" 651 137357 GENITOURINARY DYSPLASIA COMPONENT OF WAGR SYNDROME; GUD 652 137360 GENOCHONDROMATOSIS 653 137370 "GENU VALGUM, ST. HELENA FAMILIAL" 654 137400 GEOGRAPHIC TONGUE AND FISSURED TONGUE 655 137440 GERSTMANN-STRAUSSLER DISEASE; GSD 656 137500 GIANT NEUTROPHIL LEUKOCYTES 657 137550 GIANT PIGMENTED HAIRY NEVUS; GPHN 658 137560 GIANT PLATELET SYNDROME WITH THROMBOCYTOPENIA 659 137575 "GIGANTIFORM CEMENTOMA, FAMILIAL" 660 137580 GILLES DE LA TOURETTE SYNDROME; GTS 661 137600 "IRIDOGONIODYSGENESIS, TYPE 2; IRID2" 662 137700 GLAUCOMA WITH ELEVATED EPISCLERAL VENOUS PRESSURE 663 137750 "GLAUCOMA 1, OPEN ANGLE, A; GLC1A" 664 137760 "GLAUCOMA, PRIMARY OPEN ANGLE; POAG" 665 137763 GLAUCOMA AND SLEEP APNEA 666 137765 GLAUCOMA-LENS ECTOPIA-MICROSPHEROPHAKIA-STIFFNESS-SHORTNESS SYNDROME; GEMSS 667 137800 "GLIOMA OF BRAIN, FAMILIAL" 668 137920 RENAL CYSTS AND DIABETES SYNDROME 669 137950 GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 1 670 138000 GLOMUVENOUS MALFORMATIONS; GVM 671 138070 GLUCOGLYCINURIA 672 138500 GLYCINURIA WITH OR WITHOUT OXALATE UROLITHIASIS 673 138770 GMS SYNDROME 674 138800 "GOITER, MULTINODULAR 1; MNG1" 675 138900 GOUT SUSCEPTIBILITY 1 676 138920 GRANDDAD SYNDROME 677 138930 GRANT SYNDROME 678 139000 GRANULOSIS RUBRA NASI 679 139090 GRAY PLATELET SYNDROME; GPS 680 139100 "GRAYING OF HAIR, PRECOCIOUS" 681 139210 GROWTH-MENTAL DEFICIENCY SYNDROME OF MYHRE 682 139300 AROMATASE EXCESS SYNDROME; AEXS 683 139393 "GUILLAIN-BARRE SYNDROME, FAMILIAL; GBS" 684 139400 HAIR WHORL 685 139450 "HAIR, CURLY" 686 139500 HAIRY EARS 687 139600 HAIRY ELBOWS 688 139630 HAIRY NOSE TIP 689 139650 HAIRY PALMS AND SOLES 690 139750 HAND AND FOOT DEFORMITY WITH FLAT FACIES 691 139800 HAND CLASPING PATTERN 692 139900 "HAND SKILL, RELATIVE; HSR" 693 140000 HAND-FOOT-UTERUS SYNDROME 694 140300 HASHIMOTO THYROIDITIS 695 140340 HAW RIVER SYNDROME 696 140350 HAWKINSINURIA 697 140400 "PROGRESSIVE FAMILIAL HEART BLOCK, TYPE II; PFHB2" 698 140450 "HEART-HAND SYNDROME, SPANISH TYPE" 699 140500 "HEART, MALFORMATION OF" 700 140600 OSTEOARTHRITIS OF DISTAL INTERPHALANGEAL JOINTS 701 140700 HEINZ BODY ANEMIAS 702 140850 "HEMANGIOMAS, CAVERNOUS, OF FACE AND SUPRAUMBILICAL MIDLINE RAPHE" 703 140900 HEMANGIOMAS OF SMALL INTESTINE 704 141000 HEMANGIOMA-THROMBOCYTOPENIA SYNDROME 705 141200 "HEMATURIA, BENIGN FAMILIAL; BFH" 706 141300 "HEMIFACIAL ATROPHY, PROGRESSIVE; HFA" 707 141350 HEMIFACIAL HYPERPLASIA WITH STRABISMUS; HFH 708 141400 HEMIFACIAL MICROSOMIA WITH RADIAL DEFECTS 709 141405 "HEMIFACIAL SPASM, FAMILIAL" 710 141500 "MIGRAINE, FAMILIAL HEMIPLEGIC, 1; FHM1" 711 141700 HEMOLYTIC POIKILOCYTIC ANEMIA DUE TO REDUCED ANKYRIN BINDING SITES 712 141749 FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1; HBFQTL1 713 141750 "ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, DELETION-TYPE" 714 142330 "HEPATIC ADENOMAS, FAMILIAL" 715 142335 FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 5; HBFQTL5 716 142340 "DIAPHRAGMATIC HERNIA, CONGENITAL" 717 142350 "HERNIA, DOUBLE INGUINAL" 718 142395 "HEPATITIS B VACCINE, RESPONSE TO" 719 142400 "HERNIA, HIATUS" 720 142450 HERPESVIRUS SENSITIVITY; HV1S 721 142470 FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 2; HBFQTL2 722 142500 HETEROCHROMIA IRIDIS 723 142623 "HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1; HSCR1" 724 142625 HIRSUTISM--SKELETAL DYSPLASIA--MENTAL RETARDATION SYNDROME 725 142630 "HISTIOCYTOSIS, PROGRESSIVE MUCINOUS" 726 142669 "HIP DYSPLASIA, BEUKES TYPE" 727 142680 "PERIODIC FEVER, FAMILIAL, AUTOSOMAL DOMINANT" 728 142690 "ACNE INVERSA, FAMILIAL" 729 142700 ACETABULAR DYSPLASIA 730 142730 HISTIOCYTIC DERMATOARTHRITIS 731 142900 HOLT-ORAM SYNDROME; HOS 732 142945 HOLOPROSENCEPHALY 3; HPE3 733 142946 HOLOPROSENCEPHALY 4; HPE4 734 143000 "HORNER SYNDROME, CONGENITAL" 735 143050 HUMERORADIAL SYNOSTOSIS 736 143095 HUMEROSPINAL DYSOSTOSIS 737 143100 HUNTINGTON DISEASE; HD 738 143200 WAGNER SYNDROME 1; WGN1 739 143400 "MULTICYSTIC RENAL DYSPLASIA, BILATERAL; MRD" 740 143465 ATTENTION DEFICIT-HYPERACTIVITY DISORDER; ADHD 741 143470 HYPERALPHALIPOPROTEINEMIA 742 143500 GILBERT SYNDROME 743 143850 "ORTHOSTATIC HYPOTENSIVE DISORDER, STREETEN TYPE" 744 143860 "HYPERCHLORHIDROSIS, ISOLATED" 745 143870 "HYPERCALCIURIA, ABSORPTIVE, 2; HCA2" 746 143880 "HYPERCALCEMIA, IDIOPATHIC, OF INFANCY" 747 143890 "HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT" 748 144010 "HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, TYPE B" 749 144050 HYPERHEPARINEMIA 750 144100 "HYPERHIDROSIS, GUSTATORY" 751 144110 HYPERHIDROSIS PALMARIS ET PLANTARIS 752 144120 "HYPERIMMUNOGLOBULIN G1(A1) SYNDROME IMMUNOGLOBULIN HEAVY CHAIN REGULATOR, INCLUDED; IGHR" 753 144150 HYPERKERATOSIS LENTICULARIS PERSTANS; HLP 754 144190 HYPERKERATOSIS-HYPERPIGMENTATION SYNDROME 755 144200 "PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC; EPPK" 756 144250 "HYPERLIPIDEMIA, FAMILIAL COMBINED; FCHL" 757 144300 "HYPERLIPOPROTEINEMIA, TYPE II, AND DEAFNESS" 758 144400 "HYPERLIPOPROTEINEMIA, TYPE II" 759 144600 "HYPERLIPOPROTEINEMIA, TYPE IV" 760 144650 "HYPERLIPOPROTEINEMIA, TYPE V" 761 144700 RENAL CELL CARCINOMA 1; RCC1 762 144750 "HYPEROSTOSIS CORTICALIS GENERALISATA, BENIGN FORM OF WORTH, WITH TORUS PALATINUS" 763 144755 HYPEROSTOSIS CRANIALIS INTERNA 764 144800 HYPEROSTOSIS FRONTALIS INTERNA 765 145000 HYPERPARATHYROIDISM 1; HRPT1 766 145001 HYPERPARATHYROIDISM 2; HRPT2 767 145100 HYPERPIGMENTATION OF EYELIDS 768 145200 HYPERPIGMENTATION OF FULDAUER AND KUIJPERS 769 145250 "HYPERPIGMENTATION, FAMILIAL PROGRESSIVE" 770 145260 "PSEUDOHYPOALDOSTERONISM, TYPE II; PHA2" 771 145290 HYPERREFLEXIA; HRX 772 145295 "HYPERSECRETION OF ADRENAL ANDROGENS, FAMILIAL" 773 145300 "HYPERSENSITIVITY PNEUMONITIS, FAMILIAL" 774 145350 HYPERTAURINURIC CARDIOMYOPATHY 775 145400 HYPERTELORISM 776 145410 HYPERTELORISM WITH ESOPHAGEAL ABNORMALITY AND HYPOSPADIAS 777 145420 "HYPERTELORISM, TEEBI TYPE" 778 145500 "HYPERTENSION, ESSENTIAL" 779 145590 "HYPERTHERMIA, CUTANEOUS, WITH HEADACHES AND NAUSEA" 780 145600 "MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1; MHS1" 781 145650 "THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY; PRTH" 782 145680 "HYPERTHYROXINEMIA, FAMILIAL" 783 145700 HYPERTRICHOSIS UNIVERSALIS 784 145701 "HYPERTRICHOSIS UNIVERSALIS CONGENITA, AMBRAS TYPE; HTC1" 785 145750 "HYPERTRIGLYCERIDEMIA, FAMILIAL" 786 145800 HYPERTROPHIA MUSCULORUM VERA 787 145900 HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS 788 145980 "HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE I; HHC1" 789 145981 "HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE II; HHC2" 790 146000 HYPOCHONDROPLASIA; HCH 791 146110 HYPOGONADOTROPIC HYPOGONADISM 792 146160 HYPOMELIA WITH MULLERIAN DUCT ANOMALIES 793 146200 "HYPOPARATHYROIDISM, FAMILIAL ISOLATED; FIH" 794 146255 "HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE" 795 146300 "HYPOPHOSPHATASIA, ADULT" 796 146390 CHROMOSOME 18p DELETION SYNDROME 797 146400 HYPOPLASIA OF TEETH ROOTS 798 146450 "HYPOSPADIAS, AUTOSOMAL" 799 146500 "HYPOTENSION, ORTHOSTATIC" 800 146510 PALLISTER-HALL SYNDROME; PHS 801 146520 HYPOTRICHOSIS SIMPLEX OF SCALP 802 146530 MOVED TO 301845 803 146550 "HYPOTRICHOSIS, MARIE UNNA TYPE" 804 146590 "ICHTHYOSIS HYSTRIX, CURTH-MACKLIN TYPE; IHCM" 805 146600 ICHTHYOSIS HYSTRIX GRAVIOR 806 146700 ICHTHYOSIS VULGARIS 807 146720 ICHTHYOSIS--CHEEK--EYEBROW SYNDROME 808 146750 "ICHTHYOSIS, LAMELLAR, AUTOSOMAL DOMINANT" 809 146800 "ICHTHYOSIS, BULLOUS TYPE" 810 146830 "IMMUNE DEFICIENCY, FAMILIAL VARIABLE" 811 146840 IMMUNODEFICIENCY WITH DEFECTIVE LEUKOCYTE AND LYMPHOCYTE FUNCTION AND WITH RESPONSE TO HISTAMINE-1 ANTAGONIST 812 146850 IMMUNE SUPPRESSION; IS 813 147050 "IgE RESPONSIVENESS, ATOPIC; IGER" 814 147060 "HYPERIMMUNOGLOBULIN E RECURRENT INFECTION SYNDROME, AUTOSOMAL DOMINANT" 815 147250 SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR; SMMCI 816 147251 "INCISORS, FUSED MANDIBULAR" 817 147300 "INCISORS, LONG UPPER CENTRAL" 818 147330 "INCISORS, LOWER CENTRAL, ABSENCE OF" 819 147350 "INCISORS, ROTATION OF UPPER CENTRAL" 820 147400 "INCISORS, SHOVEL-SHAPED" 821 147420 MOVED TO 601419 822 147421 INCLUSION BODY MYOSITIS 823 147430 "INDIFFERENCE TO PAIN, CONGENITAL, AUTOSOMAL DOMINANT" 824 147480 "CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY; ICP" 825 147530 INSENSITIVITY TO PAIN WITH HYPERPLASTIC MYELINOPATHY 826 147540 "INSECT STINGS, HYPERSENSITIVITY TO" 827 147610 "IRIS PIGMENT LAYER, CLEAVAGE OF" 828 147630 ISLET CELL ADENOMATOSIS 829 147710 INTUSSUSCEPTION 830 147750 IVIC SYNDROME 831 147770 JOHNSON NEUROECTODERMAL SYNDROME 832 147791 JACOBSEN SYNDROME; JBS 833 147800 AASE-SMITH SYNDROME I 834 147820 "INTERNAL CAROTID ARTERY, SPONTANEOUS DISSECTION OF" 835 147891 SMALL PATELLA SYNDROME; SPS 836 147900 "JOINT LAXITY, FAMILIAL" 837 147920 KABUKI SYNDROME 838 147950 KALLMANN SYNDROME 2; KAL2 839 148000 KAPOSI SARCOMA 840 148050 KBG SYNDROME 841 148100 KELOIDS 842 148190 "KERATITIS, HEREDITARY" 843 148200 KERATITIS FUGAX HEREDITARIA 844 148210 "KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL DOMINANT" 845 148300 KERATOCONUS 1; KTCN1 846 148350 "KERATODERMA, PALMOPLANTAR, WITH DEAFNESS" 847 148360 "KERATODERMA, PALMOPLANTAR, WITH NAIL DYSTROPHY AND HEREDITARY MOTOR-SENSORY NEUROPATHY" 848 148370 KERATOLYTIC WINTER ERYTHEMA 849 148390 "KERATOSES, FAMILIAL ACTINIC" 850 148500 TYLOSIS WITH ESOPHAGEAL CANCER; TOC 851 148520 KERATOSIS PALMARIS ET PLANTARIS WITH CLINODACTYLY 852 148600 KERATOSIS PALMOPLANTARIS PAPULOSA 853 148700 KERATOSIS PALMOPLANTARIS STRIATA I 854 148730 "KERATOSIS, FOCAL PALMOPLANTAR AND GINGIVAL" 855 148800 KLEEBLATTSCHAEDEL SYNDROME 856 148820 "WAARDENBURG SYNDROME, TYPE III; WS3" 857 148840 KLEINE-LEVIN HIBERNATION SYNDROME 858 148860 MOVED TO 601076 859 148870 MOVED TO 118100 860 148900 SEGMENTATION SYNDROME 1; SGM1 861 149000 KLIPPEL-TRENAUNAY-WEBER SYNDROME 862 149100 KNUCKLE PADS 863 149200 "KNUCKLE PADS, LEUKONYCHIA, AND SENSORINEURAL DEAFNESS" 864 149300 "KOILONYCHIA, HEREDITARY" 865 149400 "HYPEREKPLEXIA, HEREDITARY" 866 149600 "LABIA MINORA, INCOMPLETE ADHESION OF" 867 149700 LACRIMAL DUCT DEFECT 868 149730 LACRIMOAURICULODENTODIGITAL SYNDROME; LADD 869 150170 "LACTIC ACIDOSIS, CHRONIC ADULT FORM" 870 150220 "LACTOSE INTOLERANCE, CONGENITAL" 871 150230 "TRICHORHINOPHALANGEAL SYNDROME, TYPE II; TRPS2" 872 150250 "LARSEN SYNDROME, AUTOSOMAL DOMINANT; LRS1" 873 150260 LARYNGEAL ABDUCTOR PARALYSIS 874 150270 LARYNGEAL ADDUCTOR PARALYSIS; LAP 875 150280 LARYNGOMALACIA 876 150300 "LARYNX, CONGENITAL PARTIAL ATRESIA OF" 877 150360 "LARYNGEAL WEB, FAMILIAL" 878 150400 "TOOTH AGENESIS, SELECTIVE, 4; STHAG4" 879 150500 LATTICE DEGENERATION OF RETINA LEADING TO RETINAL DETACHMENT 880 150550 LAZY LEUKOCYTE SYNDROME 881 150590 "LEG ULCERS, FAMILIAL, OF JUVENILE ONSET" 882 150600 LEGG-CALVE-PERTHES DISEASE 883 150699 "LEIOMYOMA, UTERINE; UL" 884 150700 LEIOMYOMA OF VULVA AND ESOPHAGUS 885 150800 "LEIOMYOMA, HEREDITARY MULTIPLE, OF SKIN" 886 150900 LENTIGINES 887 151000 "LENTIGINOSIS, CENTROFACIAL NEURODYSRAPHIC" 888 151001 "LENTIGINOSIS, INHERITED PATTERNED" 889 151020 LENTIL AGGLUTININ BINDING 890 151050 LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM 891 151100 LEOPARD SYNDROME 1 892 151200 LERI PLEONOSTEOSIS 893 151210 "PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA, TORRANCE TYPE; PLSDT" 894 151310 "LEUCINE TRANSPORT, HIGH; LEUT" 895 151380 "LEUKEMIA, ACUTE MONOCYTIC" 896 151390 MOVED TO 180385 897 151400 "LEUKEMIA, CHRONIC LYMPHOCYTIC; CLL" 898 151410 BREAKPOINT CLUSTER REGION; BCR 899 151430 B-CELL CLL/LYMPHOMA 2; BCL2 900 151440 "LEUKEMIA, LYMPHOID, 1; LYL1 LYMPHOBLASTIC LEUKEMIA-DERIVED SEQUENCE 1, INCLUDED; LYL1, INCLUDED" 901 151441 "LEUKEMIA/LYMPHOMA, CHRONIC B-CELL, 5; BCL5" 902 151500 "LEUKOCYTE NUCLEAR APPENDAGES, HEREDITARY PREVALENCE OF" 903 151550 LEUKONYCHIA MACULATA 904 151590 LICHEN SCLEROSUS ET ATROPHICUS; LSA 905 151600 LEUKONYCHIA TOTALIS 906 151610 LEVATOR-MEDIAL RECTUS SYNKINESIS 907 151620 "LICHEN PLANUS, FAMILIAL" 908 151623 LI-FRAUMENI SYNDROME 1; LFS1 909 151630 "LIP, MEDIAN NODULE OF UPPER" 910 151640 "LIP, HAMARTOMATOUS" 911 151660 "LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2; FPLD2" 912 151700 LIPOMA OF THE CONJUNCTIVA 913 151800 "LIPOMATOSIS, FAMILIAL BENIGN CERVICAL" 914 151900 "LIPOMATOSIS, MULTIPLE" 915 152420 LITHIUM TRANSPORT 916 152430 LONGEVITY 917 152460 "LOBULAR GLOMERULOPATHY, FAMILIAL" 918 152550 "LUMBAR STENOSIS, FAMILIAL" 919 152600 LUNULAE OF FINGERNAILS 920 152700 SYSTEMIC LUPUS ERYTHEMATOSUS; SLE 921 152800 "LYMPHANGIECTASIA, INTESTINAL" 922 152900 LYMPHEDEMA AND CEREBRAL ARTERIOVENOUS ANOMALY 923 152950 "LYMPHEDEMA, MICROCEPHALY, CHORIORETINOPATHY SYNDROME" 924 153000 LYMPHEDEMA AND PTOSIS 925 153100 "LYMPHEDEMA, HEREDITARY, IA" 926 153200 "LYMPHEDEMA, HEREDITARY, II" 927 153300 YELLOW NAIL SYNDROME 928 153400 LYMPHEDEMA-DISTICHIASIS SYNDROME 929 153470 "MACROCEPHALY, BENIGN FAMILIAL" 930 153480 BANNAYAN-RILEY-RUVALCABA SYNDROME; BRRS 931 153550 CHROMOSOME 5q DELETION SYNDROME 932 153600 "MACROGLOBULINEMIA, WALDENSTROM, SUSCEPTIBILITY TO, 1; WM1" 933 153630 MACROGLOSSIA 934 153640 FECHTNER SYNDROME; FTNS 935 153650 EPSTEIN SYNDROME 936 153670 "BERNARD-SOULIER SYNDROME, BENIGN AUTOSOMAL DOMINANT" 937 153700 "MACULAR DYSTROPHY, VITELLIFORM; VMD" 938 153800 "MACULAR DEGENERATION, AGE-RELATED, 2; ARMD2" 939 153840 "MACULAR DYSTROPHY, ATYPICAL VITELLIFORM; VMD1" 940 153870 "MACULAR DYSTROPHY, CONCENTRIC ANNULAR" 941 153880 "MACULAR EDEMA, CYSTOID" 942 153890 "MACULAR DYSTROPHY, FENESTRATED SHEEN TYPE" 943 154000 "MACULES, HEREDITARY CONGENITAL HYPOPIGMENTED AND HYPERPIGMENTED" 944 154020 "HYPOMAGNESEMIA 2, RENAL; HOMG2" 945 154230 "SEX REVERSAL, AUTOSOMAL, 2; SRA2" 946 154275 "MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 2" 947 154276 "MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 3" 948 154300 MALOCCLUSION DUE TO PROTUBERANT UPPER FRONT TEETH 949 154400 "ACROFACIAL DYSOSTOSIS 1, NAGER TYPE; AFD1" 950 154500 TREACHER COLLINS-FRANCESCHETTI SYNDROME; TCOF 951 154600 MARCUS GUNN PHENOMENON 952 154700 MARFAN SYNDROME; MFS 953 154705 MOVED TO 610380 954 154750 MARFANOID HYPERMOBILITY SYNDROME 955 154780 MARSHALL SYNDROME 956 154850 "MASTICATORY MUSCLES, HYPERTROPHY OF" 957 155000 MAXILLOFACIAL DYSOSTOSIS 958 155050 "MAXILLONASAL DYSPLASIA, BINDER TYPE" 959 155100 MAY-HEGGLIN ANOMALY; MHA 960 155140 MECKEL DIVERTICULUM 961 155145 "CLEFT, MEDIAN, OF UPPER LIP WITH POLYPS OF FACIAL SKIN AND NASAL MUCOSA" 962 155150 MEDIAN-ULNAR NERVE COMMUNICATIONS 963 155200 MEDIOSTERNAL DEPIGMENTATION LINE 964 155240 "THYROID CARCINOMA, FAMILIAL MEDULLARY; MTC" 965 155255 MEDULLOBLASTOMA 966 155310 MEGADUODENUM AND/OR MEGACYSTIS 967 155350 MEGALENCEPHALY 968 155500 MEGALODACTYLY 969 155600 "MELANOMA, CUTANEOUS MALIGNANT; CMM" 970 155601 "MELANOMA, CUTANEOUS MALIGNANT, 2; CMM2" 971 155700 "MELANOMA, MALIGNANT FAMILIAL INTRAOCULAR" 972 155720 "MELANOMA, UVEAL" 973 155755 MELANOMA-ASTROCYTOMA SYNDROME 974 155800 "MELANOSIS, UNIVERSAL" 975 155900 MELKERSSON-ROSENTHAL SYNDROME 976 155950 "MELORHEOSTOSIS MELORHEOSTOSIS WITH OSTEOPOIKILOSIS, INCLUDED" 977 155980 "MEMBRANOUS CRANIAL OSSIFICATION, DELAYED" 978 156000 MENIERE DISEASE 979 156190 MENTAL AND GROWTH RETARDATION WITH AMBLYOPIA 980 156200 "MENTAL RETARDATION, AUTOSOMAL DOMINANT 1; MRD1" 981 156220 "MERALGIA PARAESTHETICA, FAMILIAL" 982 156230 MESOMELIC DWARFISM OF HYPOPLASTIC TIBIA AND RADIUS TYPE 983 156232 "MESOMELIC DYSPLASIA, KANTAPUTRA TYPE" 984 156240 "MESOTHELIOMA, MALIGNANT" 985 156250 METACHONDROMATOSIS 986 156400 "METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE" 987 156500 "METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE; MCDS" 988 156510 METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA AND BRACHYDACTYLY 989 156520 "METATARSUS VARUS, TYPE I" 990 156530 "METATROPIC DYSPLASIA, NONLETHAL DOMINANT" 991 156550 KNIEST DYSPLASIA 992 156575 MEVALONATE UPTAKE FACILITATOR; MEV 993 156580 "MICROCEPHALY, AUTOSOMAL DOMINANT" 994 156590 "CHORIORETINAL DYSPLASIA-MICROCEPHALY-MENTAL RETARDATION SYNDROME MICROCEPHALY WITH CHORIORETINOPATHY, AUTOSOMAL DOMINANT, INCLUDED" 995 156600 "MICROCORIA, CONGENITAL" 996 156610 "SKIN CREASES, MULTIPLE BENIGN RING-SHAPED, OF LIMBS" 997 156620 MICROCEPHALY-DEAFNESS SYNDROME 998 156700 "MICROCORNEA, GLAUCOMA, AND ABSENT FRONTAL SINUSES" 999 156810 MICROGASTRIA-LIMB REDUCTION DEFECTS ASSOCIATION; MLRD 1000 156830 MICROMELIC BONE DYSPLASIA WITH CLOVERLEAF SKULL 1001 156850 "MICROPHTHALMIA, ISOLATED, WITH CATARACT 1; MCOPCT1" 1002 156900 "MICROPHTHALMIA, ISOLATED, WITH CORECTOPIA; MCOPCR" 1003 157100 "MICROPHTHALMIA, PIGMENTARY RETINOPATHY, CATARACT, AND GLAUCOMA" 1004 157150 MICROSPHEROPHAKIA WITH HERNIA 1005 157151 MICROSPHEROPHAKIA-METAPHYSEAL DYSPLASIA 1006 157170 HOLOPROSENCEPHALY 2; HPE2 1007 157200 MIDPHALANGEAL HAIR 1008 157300 "MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1" 1009 157400 "MILIA, MULTIPLE ERUPTIVE" 1010 157600 "MIRROR MOVEMENTS, HEREDITARY" 1011 157640 "PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 1" 1012 157700 "MITRAL VALVE PROLAPSE, FAMILIAL; MVP" 1013 157800 "MITRAL REGURGITATION, CONDUCTIVE DEAFNESS, AND FUSION OF CERVICAL VERTEBRAE AND OF CARPAL AND TARSAL BONES" 1014 157860 MIXED LYMPHOCYTE CULTURE LOCUS II 1015 157900 MOEBIUS SYNDROME; MBS 1016 157910 MOVED TO 157900 1017 157950 MOLAR I REINCLUSION 1018 157980 MOMO SYNDROME 1019 158000 MONILETHRIX 1020 158100 MONOPHALANGY OF GREAT TOE 1021 158170 MONOSOMY 9p SYNDROME 1022 158250 NONDISJUNCTION 1023 158280 MOTION SICKNESS 1024 158300 TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME 1025 158310 "MUCOEPITHELIAL DYSPLASIA, HEREDITARY" 1026 158320 MUIR-TORRE SYNDROME; MTS 1027 158330 MULLERIAN APLASIA 1028 158345 MULTIPLE EXOSTOSES WITH SPASTIC TETRAPARESIS 1029 158350 COWDEN DISEASE; CD 1030 158400 "MUSCLE CRAMPS, FAMILIAL" 1031 158500 "MUSCULAR ATROPHY, ATAXIA, RETINITIS PIGMENTOSA, AND DIABETES MELLITUS" 1032 158580 "NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIA; HMN7A" 1033 158590 "NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIA; HMN2A" 1034 158600 "SPINAL MUSCULAR ATROPHY, CHILDHOOD, PROXIMAL, AUTOSOMAL DOMINANT" 1035 158650 "MUSCULAR ATROPHY, MALIGNANT NEUROGENIC" 1036 158700 MOVED TO 105400 1037 158800 "MUSCULAR DYSTROPHY, BARNES TYPE" 1038 158810 BETHLEM MYOPATHY 1039 158900 FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1A; FSHMD1A 1040 158901 FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1B; FSHMD1B 1041 159000 "MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1A; LGMD1A" 1042 159001 "MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B; LGMD1B" 1043 159050 "MUSCULAR DYSTROPHY, PSEUDOHYPERTROPHIC, WITH INTERNALIZED CAPILLARIES" 1044 159100 "MUSCULAR HYPOPLASIA, CONGENITAL UNIVERSAL, OF KRABBE" 1045 159300 MUSICAL PERFECT PITCH 1046 159400 "MYASTHENIA, LIMB-GIRDLE, AUTOIMMUNE" 1047 159410 MYDRIATIC RESPONSE TO PHARMACOLOGIC AGENTS 1048 159420 "MYDRIASIS, CONGENITAL" 1049 159500 MYELINATED OPTIC NERVE FIBERS 1050 159550 MYELOCEREBELLAR DISORDER 1051 159552 MYELOID CELL LEUKEMIA 1; MCL1 1052 159555 MYELOID/LYMPHOID OR MIXED LINEAGE LEUKEMIA; MLL 1053 159556 "MYELOID/LYMPHOID OR MIXED LINEAGE LEUKEMIA, TRANSLOCATED TO, 1; MLLT1" 1054 159557 "MYELOID/LYMPHOID OR MIXED LINEAGE LEUKEMIA, TRANSLOCATED TO, 2; MLLT2" 1055 159558 "MYELOID/LYMPHOID OR MIXED LINEAGE LEUKEMIA, TRANSLOCATED TO, 3; MLLT3" 1056 159580 "MYELOPATHY, HTLV-1-ASSOCIATED; HAM" 1057 159595 "MYELOPROLIFERATIVE SYNDROME, TRANSIENT" 1058 159600 "MYOCLONIC EPILEPSY, HARTUNG TYPE" 1059 159700 MYOCLONUS AND ATAXIA 1060 159800 "MYOCLONUS, CEREBELLAR ATAXIA, AND DEAFNESS" 1061 159900 MYOCLONIC DYSTONIA 1062 159950 "MYOCLONUS, HEREDITARY, WITH PROGRESSIVE DISTAL MUSCULAR ATROPHY" 1063 160010 "MYOGLOBINURIA, AUTOSOMAL DOMINANT" 1064 160120 "EPISODIC ATAXIA, TYPE 1; EA1" 1065 160150 "MYOPATHY, CENTRONUCLEAR, AUTOSOMAL DOMINANT" 1066 160200 MOVED TO 161800 1067 160300 "MYOPATHY, DISTAL, WITH ONSET IN INFANCY" 1068 160500 "MYOPATHY, DISTAL 1; MPD1" 1069 160550 MOVED TO 157640 1070 160565 "MYOPATHY, TUBULAR AGGREGATE" 1071 160700 MYOPIA 2; MYP2 1072 160750 MYOSITIS 1073 160800 "MYOTONIA CONGENITA, AUTOSOMAL DOMINANT" 1074 160900 DYSTROPHIA MYOTONICA 1 1075 160980 "CARNEY COMPLEX, TYPE 1; CNC1" 1076 160990 MYOTONIC MYOPATHY WITH CYLINDRICAL SPIRALS 1077 161000 NAEGELI SYNDROME 1078 161050 NAIL DYSPLASIA 1079 161100 "NAILBEDS, PIGMENTATION OF" 1080 161200 NAIL-PATELLA SYNDROME; NPS 1081 161400 NARCOLEPSY 1; NRCLP1 1082 161470 "NASAL ALAR COLLAPSE, BILATERAL" 1083 161480 "NASAL BONES, ABSENCE OF" 1084 161500 "NASAL GROOVE, FAMILIAL TRANSVERSE" 1085 161530 "NASAL HYPERPIGMENTATION, FAMILIAL TRANSVERSE" 1086 161550 NASOPHARYNGEAL CARCINOMA 1087 161600 "NAVICULAR BONE, ACCESSORY" 1088 161700 "NECROTIZING ENCEPHALOMYELOPATHY, SUBACUTE, OF LEIGH, ADULT" 1089 161800 NEMALINE MYOPATHY 3; NEM3 1090 161900 "RENAL FAILURE, PROGRESSIVE, WITH HYPERTENSION" 1091 161950 IgA NEPHROPATHY 1; IGAN1 1092 162000 "HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE; HNFJ" 1093 162091 SCHWANNOMATOSIS 1094 162100 "AMYOTROPHY, HEREDITARY NEURALGIC; HNA" 1095 162200 "NEUROFIBROMATOSIS, TYPE I; NF1" 1096 162210 "NEUROFIBROMATOSIS, FAMILIAL SPINAL" 1097 162220 MOVED TO 162200 AND 606764 1098 162240 NEUROFIBROMATOSIS-PHEOCHROMOCYTOMA-DUODENAL CARCINOID SYNDROME 1099 162260 "NEUROFIBROMATOSIS, TYPE III, MIXED CENTRAL AND PERIPHERAL; NF3A" 1100 162270 "NEUROFIBROMATOSIS, TYPE IV, OF RICCARDI; NF4" 1101 162300 "MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB; MEN2B" 1102 162350 "CEROID LIPOFUSCINOSIS, NEURONAL, 4B, AUTOSOMAL DOMINANT; CLN4B" 1103 162370 "NEUROPATHY, CONGENITAL, WITH ARTHROGRYPOSIS MULTIPLEX" 1104 162380 "NEUROPATHY, HEREDITARY SENSORIMOTOR, WITH UPPER MOTOR NEURON, VISUAL PATHWAY AND AUTONOMIC DISTURBANCE" 1105 162400 "NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE I; HSAN1" 1106 162500 "NEUROPATHY, HEREDITARY, WITH LIABILITY TO PRESSURE PALSIES; HNPP" 1107 162700 "NEUTROPENIA, CHRONIC FAMILIAL" 1108 162800 CYCLIC HEMATOPOIESIS 1109 162820 NEUTROPHIL CHEMOTACTIC RESPONSE; NCR 1110 162830 "NEUTROPHILIA, HEREDITARY" 1111 162900 "NEVUS, KERATINOCYTIC, NONEPIDERMOLYTIC" 1112 163000 "NEVI FLAMMEI, FAMILIAL MULTIPLE" 1113 163050 NEVUS ANEMICUS 1114 163100 NEVUS FLAMMEUS OF NAPE OF NECK 1115 163200 SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME 1116 163400 NIEVERGELT SYNDROME 1117 163500 "NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 2; CSNBAD2" 1118 163600 NIPPLES INVERTED 1119 163700 "NIPPLES, SUPERNUMERARY" 1120 163800 "SICK SINUS SYNDROME 2, AUTOSOMAL DOMINANT; SSS2" 1121 163850 "NODULI CUTANEI, MULTIPLE, WITH URINARY TRACT ABNORMALITIES" 1122 163950 NOONAN SYNDROME 1; NS1 1123 163955 NOONAN-LIKE/MULTIPLE GIANT CELL LESION SYNDROME 1124 164000 "NOSE, ANOMALOUS SHAPE OF" 1125 164100 "NYSTAGMUS 2, CONGENITAL, AUTOSOMAL DOMINANT; NYS2" 1126 164150 "NYSTAGMUS, HEREDITARY VERTICAL" 1127 164170 "NYSTAGMUS, VOLUNTARY" 1128 164180 OCULOCEREBROCUTANEOUS SYNDROME 1129 164185 OCULAR CICATRICIAL PEMPHIGOID; OCP 1130 164190 OCULAR DOMINANCE 1131 164200 OCULODENTODIGITAL DYSPLASIA; ODDD 1132 164210 HEMIFACIAL MICROSOMIA; HFM 1133 164220 "OCULAR HYPOTELORISM, SUBMUCOSAL CLEFT PALATE, AND HYPOSPADIAS" 1134 164230 OBSESSIVE-COMPULSIVE DISORDER 1; OCD1 1135 164280 FEINGOLD SYNDROME 1136 164300 OCULOPHARYNGEAL MUSCULAR DYSTROPHY; OPMD 1137 164310 OCULOPHARYNGODISTAL MYOPATHY 1138 164330 ODONTOMA-DYSPHAGIA SYNDROME 1139 164400 SPINOCEREBELLAR ATAXIA 1; SCA1 1140 164500 SPINOCEREBELLAR ATAXIA 7; SCA7 1141 164600 MOVED TO 164400 1142 164680 "ONYCHOGRYPOSIS, PEDAL, WITH KERATOSIS PLANTARIS AND COARSE HAIR" 1143 164700 OLIVOPONTOCEREBELLAR ATROPHY V; OPCA V 1144 164745 OMODYSPLASIA 1145 164750 OMPHALOCELE 1146 164800 "ONYCHOLYSIS, PARTIAL, WITH SCLERONYCHIA" 1147 164900 OPHTHALMOMANDIBULOMELIC DYSPLASIA 1148 165000 "OPHTHALMOPLEGIA, FAMILIAL STATIC" 1149 165098 "OPHTHALMOPLEGIA, FAMILIAL TOTAL, WITH IRIS TRANSILLUMINATION" 1150 165150 "OPHTHALMOPLEGIA, PROGRESSIVE, WITH SCROTAL TONGUE AND MENTAL DEFICIENCY" 1151 165199 "OPTIC ATROPHY, HEARING LOSS, AND PERIPHERAL NEUROPATHY, AUTOSOMAL DOMINANT" 1152 165300 "OPTIC ATROPHY 3, AUTOSOMAL DOMINANT" 1153 165490 MOVED TO 165500 1154 165500 OPTIC ATROPHY 1; OPA1 1155 165510 OPTIC ATROPHY WITH NEGATIVE ELECTRORETINOGRAMS 1156 165550 "OPTIC NERVE HYPOPLASIA, BILATERAL OPTIC NERVE APLASIA, BILATERAL, INCLUDED" 1157 165590 OROFACIODIGITAL SYNDROME X; OFD10 1158 165600 "ORBITAL MARGIN, HYPOPLASIA OF" 1159 165630 MOVED TO 163200 1160 165660 OSLAM SYNDROME 1161 165670 OSSIFIED EAR CARTILAGES 1162 165680 "OSSICULAR MALFORMATIONS, FAMILIAL" 1163 165700 "OSTEOARTHROPATHY OF FINGERS, FAMILIAL" 1164 165720 OSTEOARTHRITIS 1165 165800 OSTEOCHONDRITIS DISSECANS; OD 1166 166000 "ENCHONDROMATOSIS, MULTIPLE" 1167 166200 "OSTEOGENESIS IMPERFECTA, TYPE I" 1168 166210 "OSTEOGENESIS IMPERFECTA, TYPE IIA" 1169 166220 "OSTEOGENESIS IMPERFECTA, TYPE IV" 1170 166230 "OSTEOGENESIS IMPERFECTA WITH OPALESCENT TEETH, BLUE SCLERAE AND WORMIAN BONES, BUT WITHOUT FRACTURES" 1171 166240 OSTEOGENESIS IMPERFECTA WITH OPALESCENT TEETH 1172 166250 OSTEOGLOPHONIC DYSPLASIA; OGD 1173 166260 GNATHODIAPHYSEAL DYSPLASIA; GDD 1174 166300 "OSTEOLYSIS, HEREDITARY, OF CARPAL BONES WITH NEPHROPATHY" 1175 166350 "OSSEOUS HETEROPLASIA, PROGRESSIVE" 1176 166400 OSTEOMAS OF MANDIBLE 1177 166450 OSTEOMESOPYKNOSIS 1178 166500 OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS; OSCS 1179 166600 "OSTEOPETROSIS, AUTOSOMAL DOMINANT 2; OPTA2" 1180 166700 BUSCHKE-OLLENDORFF SYNDROME 1181 166705 OSTEOPOIKILOSIS AND DACRYOCYSTITIS 1182 166710 OSTEOPOROSIS 1183 166740 OSTEOSCLEROSIS WITH ICHTHYOSIS AND FRACTURES 1184 166750 OTODENTAL DYSPLASIA 1185 166760 "OTITIS MEDIA, SUSCEPTIBILITY TO" 1186 166780 OTOFACIOCERVICAL SYNDROME 1187 166800 OTOSCLEROSIS; OTSC1 1188 166900 "OVALOCYTOSIS, HEREDITARY HEMOLYTIC" 1189 166910 "OVALOCYTOSIS, HEREDITARY HEMOLYTIC, WITH DEFECTIVE ERYTHROPOIESIS" 1190 166950 OVARIAN TERATOMA 1191 166970 OVARIAN FIBROMATA 1192 166990 "OSTEOCHONDRODYSPLASIA, RHIZOMELIC, WITH CALLOSAL AGENESIS, THROMBOCYTOPENIA, HYDROCEPHALUS, AND HYPERTENSION" 1193 167100 PACHYDERMOPERIOSTOSIS; PDP 1194 167200 "PACHYONYCHIA CONGENITA, TYPE 1; PC1" 1195 167210 "PACHYONYCHIA CONGENITA, TYPE 2; PC2" 1196 167220 PACMAN DYSPLASIA 1197 167320 INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA; IBMPFD 1198 167400 PAROXYSMAL EXTREME PAIN DISORDER 1199 167500 PALATOPHARYNGEAL INCOMPETENCE 1200 167600 "PALMARIS LONGUS MUSCLE, ABSENCE OF" 1201 167700 PALMOMENTAL REFLEX 1202 167730 PALPEBRAL COLOBOMA-LIPOMA SYNDROME 1203 167750 "PANCREAS, ANNULAR" 1204 167755 "PANCREAS, DORSAL, AGENESIS OF" 1205 167800 "PANCREATITIS, HEREDITARY; PCTT" 1206 167870 PANIC DISORDER 1; PAND1 1207 167900 "PAPILLOMATOSIS, FAMILIAL CUTANEOUS" 1208 167950 "PAPILLOMATOSIS, FLORID, OF NIPPLE" 1209 168000 PARAGANGLIOMAS 1; PGL1 1210 168100 "PARALYSIS AGITANS, JUVENILE, OF HUNT" 1211 168200 PARAMOLAR TUBERCLE OF BOLK 1212 168300 PARAMYOTONIA CONGENITA OF VON EULENBURG; PMC 1213 168400 PARASTREMMATIC DWARFISM 1214 168500 PARIETAL FORAMINA; PFM 1215 168550 PARIETAL FORAMINA WITH CLEIDOCRANIAL DYSPLASIA; PFMCCD 1216 168600 "PARKINSON DISEASE; PD PARKINSONISM, INCLUDED" 1217 168601 "PARKINSON DISEASE, FAMILIAL, TYPE 1; PARK1" 1218 168605 PARKINSONISM WITH ALVEOLAR HYPOVENTILATION AND MENTAL DEPRESSION 1219 168610 MOVED TO 600274 1220 168800 "PAROTIDOMEGALY, HEREDITARY BILATERAL" 1221 168850 "PATELLA APLASIA, COXA VARA, AND TARSAL SYNOSTOSIS" 1222 168860 PATELLA APLASIA-HYPOPLASIA; PTLAH 1223 168885 "PAROXYSMAL TONIC UPGAZE, BENIGN CHILDHOOD, WITH ATAXIA" 1224 168900 "PATELLA, CHONDROMALACIA OF" 1225 169000 "PATELLA, FAMILIAL RECURRENT DISLOCATION OF" 1226 169100 CHAR SYNDROME 1227 169150 PATTERNED DYSTROPHY OF RETINAL PIGMENT EPITHELIUM 1228 169170 PATTERSON PSEUDOLEPRECHAUNISM SYNDROME 1229 169200 PECHET FACTOR DEFICIENCY 1230 169300 PECTUS EXCAVATUM 1231 169400 PELGER-HUET ANOMALY; PHA 1232 169500 "LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT" 1233 169545 PELVIC LIPOMATOSIS WITH CROSSED RENAL ECTOPIA 1234 169550 PELVIS-SHOULDER DYSPLASIA 1235 169600 BENIGN CHRONIC PEMPHIGUS; BCPM 1236 169610 "PEMPHIGUS VULGARIS, FAMILIAL" 1237 170390 ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS 1238 170400 HYPOKALEMIC PERIODIC PARALYSIS; HOKPP 1239 170500 HYPERKALEMIC PERIODIC PARALYSIS; HYPP 1240 170600 NORMOKALEMIC PERIODIC PARALYSIS 1241 170650 "PERIODONTITIS, AGGRESSIVE, 1" 1242 170700 PERIPHERAL DYSOSTOSIS 1243 170900 PERNICIOUS ANEMIA 1244 170980 "PERONEAL NERVE, ACCESSORY DEEP" 1245 171100 "PHAGOCYTOSIS, PLASMA-RELATED DEFECT IN" 1246 171200 THIOUREA TASTING 1247 171300 PHEOCHROMOCYTOMA 1248 171350 MOVED TO 115310 1249 171400 "MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA; MEN2A" 1250 171420 PHEOCHROMOCYTOMA--ISLET CELL TUMOR SYNDROME 1251 171450 PHLEBECTASIA OF LIPS 1252 171480 "PHOCOMELIA-ECTRODACTYLY, EAR MALFORMATION, DEAFNESS, AND SINUS ARRHYTHMIA" 1253 172150 6-@PHOSPHOGLUCONOLACTONASE DEFICIENCY 1254 172500 "PHOTOMYOCLONUS, DIABETES MELLITUS, DEAFNESS, NEPHROPATHY, AND CEREBRAL DYSFUNCTION" 1255 172700 PICK DISEASE OF BRAIN 1256 172800 PIEBALD TRAIT; PBT 1257 172850 PIEBALD TRAIT WITH NEUROLOGIC DEFECTS 1258 172870 PIGMENTED PARAVENOUS CHORIORETINAL ATROPHY; PPCRA 1259 172880 PIERRE ROBIN SYNDROME AND OLIGODACTYLY 1260 172900 PIGMENTED PURPURIC ERUPTION 1261 173000 PILONIDAL SINUS 1262 173100 "PITUITARY DWARFISM DUE TO ISOLATED GROWTH HORMONE DEFICIENCY, AUTOSOMAL DOMINANT" 1263 173200 PITYRIASIS RUBRA PILARIS 1264 173400 "PLATELET AGGREGATION, SPONTANEOUS" 1265 173420 "PLATELET DISORDER, UNDEFINED" 1266 173450 PLATELET FACTOR 3 DEFICIENCY 1267 173500 "PLATELET GROUPS--Ko SYSTEM; HPA-2 SIB(a), INCLUDED" 1268 173560 PLATELET MEMBRANE FLUIDITY; PMF 1269 173580 "PLATELET RESPONSIVENESS TO ADRENALINE, DEPRESSED" 1270 173590 PLATELET SIGNAL PROCESSING DEFECT 1271 173600 "PNEUMOTHORAX, PRIMARY SPONTANEOUS" 1272 173650 KINDLER SYNDROME 1273 173700 "POIKILODERMA, HEREDITARY SCLEROSING" 1274 173800 POLAND SYNDROME 1275 173900 POLYCYSTIC KIDNEYS 1276 174050 POLYCYSTIC LIVER DISEASE; PCLD 1277 174100 "POLYDACTYLY, IMPERFORATE ANUS, AND VERTEBRAL ANOMALIES" 1278 174200 "POLYDACTYLY, POSTAXIAL, TYPE A1" 1279 174300 OROFACIODIGITAL SYNDROME V; OFD5 1280 174310 "POLYDACTYLY, POSTAXIAL, WITH PROGRESSIVE MYOPIA" 1281 174400 "POLYDACTYLY, PREAXIAL I" 1282 174500 "POLYDACTYLY, PREAXIAL II; PPD2" 1283 174600 "POLYDACTYLY, PREAXIAL III" 1284 174700 "POLYDACTYLY, PREAXIAL IV" 1285 174770 ACTINIC PRURIGO 1286 174800 MCCUNE-ALBRIGHT SYNDROME; MAS 1287 174810 "POLYOSTOTIC OSTEOLYTIC DYSPLASIA, HEREDITARY EXPANSILE; HEPOD" 1288 174900 JUVENILE POLYPOSIS SYNDROME; JPS 1289 175020 "POLYPOSIS, GASTRIC" 1290 175100 ADENOMATOUS POLYPOSIS OF THE COLON; APC 1291 175200 PEUTZ-JEGHERS SYNDROME; PJS 1292 175400 "POLYPOSIS, INTESTINAL, SCATTERED AND DISCRETE" 1293 175450 "POLYPOSIS, INTESTINAL, WITH MULTIPLE EXOSTOSES" 1294 175500 "POLYPOSIS, SKIN PIGMENTATION, ALOPECIA, AND FINGERNAIL CHANGES" 1295 175505 POLYPOSIS OF GASTRIC FUNDUS WITHOUT POLYPOSIS COLI 1296 175510 "POLYPS, MULTIPLE AND RECURRENT INFLAMMATORY FIBROID, GASTROINTESTINAL" 1297 175690 "POLYSYNDACTYLY, CROSSED" 1298 175700 GREIG CEPHALOPOLYSYNDACTYLY SYNDROME; GCPS 1299 175750 POPLITEAL CYST 1300 175780 "PORENCEPHALY, FAMILIAL" 1301 175800 POROKERATOSIS OF MIBELLI 1302 175850 "POROKERATOSIS PLANTARIS, PALMARIS, ET DISSEMINATA" 1303 175860 POROKERATOSIS PUNCTATA PALMARIS ET PLANTARIS; PPPP 1304 175900 "POROKERATOSIS, DISSEMINATED SUPERFICIAL ACTINIC, 1; DSAP1" 1305 176000 "PORPHYRIA, ACUTE INTERMITTENT" 1306 176010 "PORPHYRIA, CHESTER TYPE; PORC" 1307 176090 "PORPHYRIA CUTANEA TARDA, TYPE I" 1308 176100 PORPHYRIA CUTANEA TARDA 1309 176200 PORPHYRIA VARIEGATA 1310 176240 "POSTAXIAL OLIGODACTYLY, TETRAMELIC" 1311 176250 POSTERIOR COLUMN ATAXIA 1312 176270 PRADER-WILLI SYNDROME; PWS 1313 176305 "PREAXIAL DEFICIENCY, POSTAXIAL POLYDACTYLY, AND HYPOSPADIAS" 1314 176400 "PRECOCIOUS PUBERTY, CENTRAL" 1315 176410 "PRECOCIOUS PUBERTY, MALE-LIMITED" 1316 176430 PREMATURE CHROMATID SEPARATION TRAIT; PCS 1317 176450 CURRARINO SYNDROME 1318 176500 "DEMENTIA, FAMILIAL BRITISH; FBD" 1319 176600 "PRESENILE DEMENTIA, KRAEPELIN TYPE" 1320 176620 "PRIAPISM, FAMILIAL IDIOPATHIC" 1321 176670 HUTCHINSON-GILFORD PROGERIA SYNDROME; HGPS 1322 176690 PROGEROID SHORT STATURE WITH PIGMENTED NEVI 1323 176700 "PROGNATHISM, MANDIBULAR" 1324 176780 PELVIC ORGAN PROLAPSE 1325 176800 "PRONATION-SUPINATION OF THE FOREARM, IMPAIRMENT OF" 1326 176807 PROSTATE CANCER 1327 176860 "PROTEIN C DEFICIENCY, CONGENITAL THROMBOTIC DISEASE DUE TO" 1328 176900 PROTEOLYTIC CAPACITY OF PLASMA 1329 176920 PROTEUS SYNDROME 1330 176950 MOVED TO 262890 1331 177000 "PROTOPORPHYRIA, ERYTHROPOIETIC" 1332 177050 PROTRUSIO ACETABULI 1333 177100 "PRURITUS, HEREDITARY LOCALIZED" 1334 177150 MOVED TO 177170 1335 177170 PSEUDOACHONDROPLASIA; PSACH 1336 177200 LIDDLE SYNDROME 1337 177300 PSEUDOARTHROGRYPOSIS 1338 177350 PSEUDOATROPHODERMA COLLI 1339 177650 EXFOLIATION SYNDROME; XFS 1340 177700 PSEUDOGLAUCOMA 1341 177720 "PSEUDOHYPERKALEMIA, FAMILIAL, 1, DUE TO RED CELL LEAK" 1342 177735 "PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT" 1343 177750 PSEUDOMONILETHRIX 1344 177800 PSEUDOPAPILLEDEMA 1345 177820 PSEUDO-VON WILLEBRAND DISEASE 1346 177850 "PSEUDOXANTHOMA ELASTICUM, FORME FRUSTE PSEUDOXANTHOMA ELASTICUM, HETEROZYGOUS, INCLUDED" 1347 177860 REMOVED FROM DATABASE 1348 177900 PSORIASIS SUSCEPTIBILITY 1; PSORS1 1349 177980 "PTERYGIA, MENTAL RETARDATION, AND DISTINCTIVE CRANIOFACIAL FEATURES" 1350 177990 "PTERYGIUM COLLI, ISOLATED" 1351 178000 PTERYGIUM OF CONJUNCTIVA AND CORNEA 1352 178110 "MULTIPLE PTERYGIUM SYNDROME, AUTOSOMAL DOMINANT" 1353 178200 "PTERYGIUM, ANTECUBITAL" 1354 178300 "PTOSIS, HEREDITARY CONGENITAL 1; PTOS1" 1355 178330 "PTOSIS, STRABISMUS, AND ECTOPIC PUPILS" 1356 178350 PUBIC BONE DYSPLASIA 1357 178370 PULMONARY ATRESIA WITH VENTRICULAR SEPTAL DEFECT 1358 178400 PULMONARY EDEMA OF MOUNTAINEERS 1359 178500 "PULMONARY FIBROSIS, IDIOPATHIC" 1360 178550 PULMONARY HEMOSIDEROSIS 1361 178600 "PULMONARY HYPERTENSION, PRIMARY; PPH1" 1362 178610 "PULMONARY NODULAR LYMPHOID HYPERPLASIA, FAMILIAL" 1363 178650 "PULMONIC STENOSIS, ATRIAL SEPTAL DEFECT, AND UNIQUE ELECTROCARDIOGRAPHIC ABNORMALITIES" 1364 178651 PULMONIC STENOSIS AND DEAFNESS 1365 178800 "PUPIL, EGG-SHAPED" 1366 178900 "PUPILLARY MEMBRANE, PERSISTENCE OF" 1367 178995 PRURITIC URTICARIAL PAPULES AND PLAQUES OF PREGNANCY; PUPPP 1368 179000 PURPURA SIMPLEX 1369 179010 "PYLORIC STENOSIS, INFANTILE HYPERTROPHIC 1; IHPS1" 1370 179200 "RADIAL HEADS, POSTERIOR DISLOCATION OF" 1371 179250 "RADIAL HYPOPLASIA, TRIPHALANGEAL THUMBS, HYPOSPADIAS, AND MAXILLARY DIASTEMA" 1372 179270 RADIAL RAY HYPOPLASIA WITH CHOANAL ATRESIA 1373 179280 RADIAL-RENAL SYNDROME 1374 179300 RADIOULNAR SYNOSTOSIS 1375 179400 "RADIUS, APLASIA OF, WITH CLEFT LIP/PALATE" 1376 179450 RAGWEED SENSITIVITY 1377 179500 RAINDROP HYPOPIGMENTATION 1378 179600 RAYNAUD DISEASE 1379 179613 RECOMBINANT CHROMOSOME 8 SYNDROME 1380 179650 RED CELL PERMEABILITY DEFECT 1381 179700 RED CELL PHOSPHOLIPID DEFECT WITH HEMOLYSIS 1382 179760 RENAL CELL CARCINOMA 2; RCC2 1383 179770 RENAL CELL CARCINOMA 3; RCC3 1384 179800 "RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL DOMINANT" 1385 179830 "RENAL TUBULAR ACIDOSIS, PROXIMAL" 1386 179840 RETICULAR DYSTROPHY OF RETINAL PIGMENT EPITHELIUM 1387 179850 DOWLING-DEGOS DISEASE; DDD 1388 179900 RETINAL APLASIA 1389 180000 "RETINAL ARTERIES, TORTUOSITY OF" 1390 180020 RETINAL CONE DYSTROPHY 1; RCD1 1391 180040 CHROMOSOME 1 OPEN READING FRAME 36; C1ORF36 1392 180050 RETINAL DETACHMENT 1393 180070 RETINAL NONATTACHMENT AND FALCIFORM DETACHMENT 1394 180080 RETINAL VENOUS BEADING 1395 180100 RETINITIS PIGMENTOSA 1; RP1 1396 180104 RETINITIS PIGMENTOSA 9; RP9 1397 180105 RETINITIS PIGMENTOSA 10; RP10 1398 180200 RETINOBLASTOMA; RB1 1399 180210 "RETINOPATHY, PERICENTRAL PIGMENTARY, DOMINANT" 1400 180270 "RETINOSCHISIS, AUTOSOMAL DOMINANT" 1401 180295 "RHABDOMYOSARCOMA, EMBRYONAL, 2; RMSE2" 1402 180300 RHEUMATOID ARTHRITIS; RA 1403 180350 RHEUMATOID NODULOSIS 1404 180360 RHINY 1405 180500 "RIEGER SYNDROME, TYPE 1; RIEG1" 1406 180550 RING DERMOID OF CORNEA; RDC 1407 180600 RINGED HAIR 1408 180700 "ROBINOW SYNDROME, AUTOSOMAL DOMINANT" 1409 180730 ROMBO SYNDROME 1410 180750 ROBINOW-SORAUF SYNDROME 1411 180800 ROUSSY-LEVY HEREDITARY AREFLEXIC DYSTASIA 1412 180849 RUBINSTEIN-TAYBI SYNDROME; RSTS 1413 180860 SILVER-RUSSELL SYNDROME; SRS 1414 180870 RUVALCABA SYNDROME 1415 180900 RUTHERFURD SYNDROME 1416 180920 APLASIA OF LACRIMAL AND SALIVARY GLANDS; ALSG 1417 180950 "SALIVARY SUBSTANCE, CLOSTRIDIUM BOTULINUM TYPE" 1418 181000 SARCOIDOSIS 1419 181010 SALIVARY DUCT CALCULI 1420 181030 "SALIVARY GLAND ADENOMA, PLEOMORPHIC" 1421 181180 SAY SYNDROME 1422 181200 SC(1) TRAIT OF SALIVA 1423 181250 SCALP DEFECTS AND POSTAXIAL POLYDACTYLY 1424 181270 SCALP-EAR-NIPPLE SYNDROME 1425 181300 "SCAPULA, CONTOUR OF VERTEBRAL BORDER OF" 1426 181350 "EMERY-DREIFUSS MUSCULAR DYSTROPHY, AUTOSOMAL DOMINANT; EDMD2" 1427 181400 "SCAPULOPERONEAL SYNDROME, NEUROGENIC, KAESER TYPE" 1428 181405 "AMYOTROPHY, NEUROGENIC SCAPULOPERONEAL, NEW ENGLAND TYPE" 1429 181430 "SCAPULOPERONEAL MYOPATHY, MYH7-RELATED; SPMM" 1430 181440 SCHEUERMANN DISEASE 1431 181450 ULNAR-MAMMARY SYNDROME; UMS 1432 181460 "SCHISTOSOMA MANSONI INFECTION, SUSCEPTIBILITY/RESISTANCE TO" 1433 181500 SCHIZOPHRENIA; SCZD 1434 181510 SCHIZOPHRENIA 1; SCZD1 1435 181515 SCHOLTE SYNDROME 1436 181600 SCLEROTYLOSIS 1437 181700 "SCLEROCORNEA, AUTOSOMAL DOMINANT" 1438 181750 "SCLERODERMA, FAMILIAL PROGRESSIVE" 1439 181800 "SCOLIOSIS, IDIOPATHIC, SUSCEPTIBILITY TO,; IS1" 1440 182000 SEBORRHEIC KERATOSES 1441 182150 SIMOSA CRANIOFACIAL SYNDROME 1442 182170 SIDEROBLASTIC ANEMIA WITH ERYTHROCYTE DIMORPHISM 1443 182200 "SELLA TURCICA, BRIDGED" 1444 182210 SHPRINTZEN OMPHALOCELE SYNDROME 1445 182212 SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME 1446 182220 "SISTER CHROMATID EXCHANGE, FREQUENCY OF" 1447 182230 SEPTOOPTIC DYSPLASIA 1448 182250 SINGLETON-MERTEN SYNDROME 1449 182255 SKELETAL DYSPLASIA WITH DELAYED EPIPHYSEAL AND CARPAL BONE OSSIFICATION 1450 182260 SLIPPED FEMORAL CAPITAL EPIPHYSES 1451 182280 SMALL CELL CANCER OF THE LUNG 1452 182290 SMITH-MAGENIS SYNDROME; SMS 1453 182410 SNEDDON SYNDROME 1454 182600 "SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT; SPG3A" 1455 182601 "SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT; SPG4" 1456 182610 "SPASTIC PARAPLEGIA, EPILEPSY, AND MENTAL RETARDATION; SPERM" 1457 182690 "SPASTIC PARAPLEGIA, SENSORINEURAL DEAFNESS, MENTAL RETARDATION, AND PROGRESSIVE NEPHROPATHY" 1458 182800 SPASTIC PARAPLEGIA WITH ASSOCIATED EXTRAPYRAMIDAL SIGNS 1459 182815 SPASTIC PARAPLEGIA WITH NEUROPATHY AND POIKILODERMA 1460 182820 SPASTIC PARAPLEGIA WITH PRECOCIOUS PUBERTY 1461 182830 "SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND DEMENTIA" 1462 182900 "SPHEROCYTOSIS, HEREDITARY; HS" 1463 182920 "MYOPATHY, SPHEROID BODY" 1464 182930 MOVED TO 167800 1465 182940 NEURAL TUBE DEFECTS 1466 182950 SPINAL ARACHNOIDITIS 1467 182970 "SPINAL MUSCULAR ATROPHY, FACIOSCAPULOHUMERAL TYPE" 1468 182980 "SPINAL MUSCULAR ATROPHY, PROXIMAL, ADULT, AUTOSOMAL DOMINANT" 1469 182990 SPINAL INTRADURAL ARACHNOID CYSTS 1470 183000 SPINOCEREBELLAR ATAXIA AND PLAQUE-LIKE DEPOSITS 1471 183020 "SPINAL MUSCULAR ATROPHY, SEGMENTAL" 1472 183050 SPINOCEREBELLAR ATAXIA WITH RIGIDITY AND PERIPHERAL NEUROPATHY 1473 183086 SPINOCEREBELLAR ATAXIA 6; SCA6 1474 183090 SPINOCEREBELLAR ATAXIA 2; SCA2 1475 183100 SPINOCEREBELLAR ATROPHY WITH PUPILLARY PARALYSIS 1476 183300 SPLENOGONADAL FUSION WITH LIMB DEFECTS AND MICROGNATHIA 1477 183350 SPLENOMEGALY SYNDROME WITH SPLENIC GERMINAL CENTER HYPOPLASIA AND REDUCED CIRCULATING T-HELPER CELLS 1478 183400 SPLIT LOWER LIP 1479 183500 SPLIT-HAND AND SPLIT-FOOT WITH HYPODONTIA 1480 183600 SPLIT-HAND/FOOT MALFORMATION 1; SHFM1 1481 183700 SPLIT-FOOT DEFORMITY WITH MANDIBULOFACIAL DYSOSTOSIS 1482 183800 "SPLIT-HAND WITH CONGENITAL NYSTAGMUS, FUNDAL CHANGES, AND CATARACTS" 1483 183802 "SPLIT-HAND WITH OBSTRUCTIVE UROPATHY, SPINA BIFIDA, AND DIAPHRAGMATIC DEFECTS" 1484 183840 "SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 2" 1485 183849 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH HYPOTRICHOSIS 1486 183850 SPONDYLOEPIPHYSEAL DYSPLASIA WITH PUNCTATE CORNEAL DYSTROPHY 1487 183900 SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; SEDC 1488 184000 "SPONDYLOEPIPHYSEAL DYSPLASIA, MYOPIA, AND SENSORINEURAL DEAFNESS" 1489 184095 "SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE" 1490 184100 "SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, AUTOSOMAL DOMINANT" 1491 184200 SPONDYLOLISTHESIS 1492 184250 "SPONDYLOEPIMETAPHYSEAL DYSPLASIA, STRUDWICK TYPE" 1493 184252 "SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE" 1494 184253 "SPONDYLOMETAPHYSEAL DYSPLASIA, ALGERIAN TYPE" 1495 184255 "SPONDYLOMETAPHYSEAL DYSPLASIA, CORNER FRACTURE TYPE" 1496 184260 SPONDYLOMETAPHYSEAL DYSPLASIA WITH DENTINOGENESIS IMPERFECTA 1497 184300 "SPONDYLOSIS, CERVICAL" 1498 184400 SPRENGEL DEFORMITY 1499 184450 "STUTTERING, FAMILIAL PERSISTENT 1; STUT1" 1500 184460 STAPES ANKYLOSIS WITH BROAD THUMB AND TOES 1501 184500 STEATOCYSTOMA MULTIPLEX 1502 184510 STEATOCYSTOMA MULTIPLEX WITH NATAL TEETH 1503 184700 POLYCYSTIC OVARY SYNDROME 1; PCOS1 1504 184705 STEINFELD SYNDROME 1505 184800 "STERNUM, PREMATURE OBLITERATION OF SUTURES OF" 1506 184840 "STICKLER SYNDROME, TYPE III; STL3" 1507 184850 STIFF-PERSON SYNDROME; SPS 1508 184900 STIFF SKIN SYNDROME 1509 185000 STOMATOCYTOSIS I 1510 185010 STOMATOCYTOSIS II 1511 185020 PSEUDOHYPERKALEMIA CARDIFF 1512 185050 STORAGE POOL PLATELET DISEASE 1513 185069 STORM SYNDROME 1514 185070 STORMORKEN SYNDROME 1515 185100 "STRABISMUS, SUSCEPTIBILITY TO STRABISMUS, SUSCEPTIBILITY TO, 1, INCLUDED; STBMS1, INCLUDED" 1516 185120 STRATTON-PARKER SYNDROME 1517 185200 "STRIAE DISTENSAE, FAMILIAL" 1518 185300 STURGE-WEBER SYNDROME 1519 185400 SUBGLOTTIC BAR 1520 185450 "SUBLUXATION OF LENSES, LATE" 1521 185460 "SULFHEMOGLOBINEMIA, CONGENITAL" 1522 185480 "SUPRABULBAR PARESIS, CONGENITAL" 1523 185500 SUPRAVALVULAR AORTIC STENOSIS; SVAS 1524 185600 SYMPHALANGISM OF TOES 1525 185650 "SYMPHALANGISM, C. S. LEWIS TYPE" 1526 185700 "SYMPHALANGISM, DISTAL" 1527 185750 SYMPHALANGISM WITH MULTIPLE ANOMALIES OF HANDS AND FEET 1528 185800 "SYMPHALANGISM, PROXIMAL; SYM1" 1529 185900 "SYNDACTYLY, TYPE I" 1530 186000 SYNPOLYDACTYLY 1; SPD1 1531 186100 "SYNDACTYLY, TYPE III" 1532 186200 "SYNDACTYLY, TYPE IV" 1533 186300 "SYNDACTYLY, TYPE V" 1534 186350 SYNDACTYLY-POLYDACTYLY-EARLOBE SYNDROME 1535 186400 "SYNOSTOSES, TARSAL, CARPAL, AND DIGITAL" 1536 186500 MULTIPLE SYNOSTOSES SYNDROME 1; SYNS1 1537 186550 "SYNOSTOSIS, CARPAL, WITH DYSPLASTIC ELBOW JOINTS AND BRACHYDACTYLY" 1538 186570 "TARSAL-CARPAL COALITION SYNDROME; TCC SYNOSTOSIS OF TALUS AND CALCANEUS WITH SHORT STATURE, INCLUDED" 1539 186575 "SYNOVIAL CHONDROMATOSIS, FAMILIAL, WITH DWARFISM" 1540 186580 "SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES" 1541 186600 "SYRINGOMAS, MULTIPLE" 1542 186700 "SYRINGOMYELIA, ISOLATED" 1543 186750 TALONAVICULAR COALITION 1544 186850 TARSAL FUSION 1545 186860 T-CELL LEUKEMIA/LYMPHOMA 4; TCL4 1546 186950 "T-CELL SUBGROUPS, NON-HLA-LINKED" 1547 187000 "TEETH, ODD SHAPES OF" 1548 187040 T-CELL ACUTE LYMPHOCYTIC LEUKEMIA 1; TAL1 1549 187050 TEETH PRESENT AT BIRTH 1550 187100 "TEETH, SUPERNUMERARY" 1551 187260 "TELANGIECTASIA, HEREDITARY BENIGN" 1552 187300 "TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER; HHT" 1553 187340 TEMPERATURE-SENSITIVE LETHAL MUTATION 1554 187350 TELECANTHUS 1555 187360 TEMPORAL ARTERITIS 1556 187370 "ARTHROGRYPOSIS, DISTAL, TYPE 10; DA10" 1557 187390 "TENDONS, EXTENSOR, OF FINGERS, ANOMALOUS INSERTION OF" 1558 187400 TESTICULAR TORSION 1559 187500 TETRALOGY OF FALLOT 1560 187501 TETRALOGY OF FALLOT AND GLAUCOMA 1561 187510 TETRAMELIC MONODACTYLY 1562 187600 "THANATOPHORIC DYSPLASIA, TYPE I; TD1" 1563 187601 "THANATOPHORIC DYSPLASIA, TYPE II; TD2" 1564 187750 "THORACIC DYSOSTOSIS, ISOLATED" 1565 187760 THORACOLARYNGOPELVIC DYSPLASIA; TLPD 1566 187770 THORACOPELVIC DYSOSTOSIS 1567 187800 "GLANZMANN THROMBASTHENIA, AUTOSOMAL DOMINANT" 1568 187900 "THROMBASTHENIA-THROMBOCYTOPENIA, HEREDITARY" 1569 187950 "THROMBOCYTHEMIA, ESSENTIAL" 1570 188000 THROMBOCYTOPENIA 2; THC2 1571 188020 "THROMBOCYTOPENIA, CYCLIC" 1572 188025 "THROMBOCYTOPENIA, PARIS-TROUSSEAU TYPE; TCPT" 1573 188030 "THROMBOCYTOPENIC PURPURA, AUTOIMMUNE" 1574 188050 "THROMBOPHILIA VENOUS THROMBOEMBOLISM, INCLUDED" 1575 188055 THROMBOPHILIA DUE TO DEFICIENCY OF ACTIVATED PROTEIN C COFACTOR 1576 188100 THUMB DEFORMITY 1577 188150 THUMB DEFORMITY AND ALOPECIA 1578 188200 "THUMBNAILS, ABSENT" 1579 188201 "THUMBS, STIFF, WITH BRACHYDACTYLY TYPE A1 AND DEVELOPMENTAL DELAY" 1580 188400 DIGEORGE SYNDROME; DGS 1581 188455 "THYROGLOSSAL DUCT CYST, FAMILIAL" 1582 188470 "THYROID CARCINOMA, FOLLICULAR; FTC" 1583 188550 "THYROID CARCINOMA, PAPILLARY" 1584 188560 THYROID HORMONE PLASMA MEMBRANE TRANSPORT DEFECT 1585 188570 "THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT; GRTH" 1586 188580 "THYROTOXIC PERIODIC PARALYSIS HASHITOXIC PERIODIC PARALYSIS, INCLUDED" 1587 188700 TIBIA VARA 1588 188740 "TIBIA, ABSENCE OF, WITH POLYDACTYLY" 1589 188770 "TIBIA, HYPOPLASIA OF, WITH POLYDACTYLY" 1590 188800 "TIBIAL TORSION, BILATERAL MEDIAL" 1591 188890 "TOBACCO ADDICTION, SUSCEPTIBILITY TO" 1592 189000 "TOE, FIFTH, NUMBER OF PHALANGES IN" 1593 189100 "TOE, MISSHAPEN" 1594 189150 "TOE, ROTATED FIFTH" 1595 189200 "TOES, RELATIVE LENGTH OF FIRST AND SECOND" 1596 189230 "TOES, SPACE BETWEEN FIRST AND SECOND" 1597 189300 "TONGUE CURLING, FOLDING, OR ROLLING" 1598 189490 TOOTH MALFORMATION 1599 189500 WITKOP SYNDROME 1600 189600 TORTICOLLIS 1601 189700 TORUS PALATINUS AND TORUS MANDIBULARIS 1602 189800 PREECLAMPSIA/ECLAMPSIA 1; PEE1 1603 189960 TRACHEOESOPHAGEAL FISTULA WITH OR WITHOUT ESOPHAGEAL ATRESIA 1604 189961 TRACHEOPATHIA OSTEOPLASTICA 1605 190100 GENIOSPASM 1; GSM1 1606 190200 "TREMOR OF INTENTION, ATAXIA, AND LIPOFUSCINOSIS" 1607 190300 "TREMOR, HEREDITARY ESSENTIAL, 1; ETM1" 1608 190310 "TREMOR, NYSTAGMUS, AND DUODENAL ULCER" 1609 190320 TRICHODENTOOSSEOUS SYNDROME 1610 190330 TRICHOMEGALY 1611 190340 "TRICHODISCOMAS, FAMILIAL MULTIPLE" 1612 190345 "TRICHOEPITHELIOMAS, MULTIPLE DESMOPLASTIC" 1613 190350 "TRICHORHINOPHALANGEAL SYNDROME, TYPE I; TRPS1" 1614 190351 "TRICHORHINOPHALANGEAL SYNDROME, TYPE III; TRPS3" 1615 190360 TRICHODYSPLASIA-XERODERMA 1616 190400 TRIGEMINAL NEURALGIA 1617 190410 TRIGGER THUMB 1618 190440 "TRIGONOCEPHALY, NONSYNDROMIC" 1619 190500 TRIPHALANGEAL THUMB WITH DOUBLE PHALANGES 1620 190600 "TRIPHALANGEAL THUMB, NONOPPOSABLE" 1621 190605 MOVED TO 174500 1622 190650 TRIPHALANGEAL THUMBS AND DISLOCATION OF PATELLA 1623 190680 TRIPHALANGEAL THUMBS WITH BRACHYECTRODACTYLY 1624 190685 DOWN SYNDROME 1625 190800 TRISTICHIASIS 1626 190900 TRITANOPIA 1627 191000 "TROCHLEA OF THE HUMERUS, APLASIA OF" 1628 191090 TUBEROUS SCLEROSIS 4 1629 191091 TUBEROUS SCLEROSIS 3; TSC3 1630 191100 TUBEROUS SCLEROSIS; TS 1631 191150 TUFTSIN DEFICIENCY 1632 191200 TUNE DEAFNESS 1633 191250 TWINNING DUE TO SUPERFETATION 1634 191390 "ULCERATIVE COLITIS, SUSCEPTIBILITY TO" 1635 191400 "ULNA AND FIBULA, HYPOPLASIA OF" 1636 191420 ULNA METAPHYSEAL DYSPLASIA SYNDROME 1637 191440 ULNAR HYPOPLASIA 1638 191480 UNCOMBABLE HAIR SYNDROME 1639 191482 "UNCOMBABLE HAIR, RETINAL PIGMENTARY DYSTROPHY, DENTAL ANOMALIES, AND BRACHYDACTYLY" 1640 191500 UNDRITZ ANOMALY 1641 191520 UPINGTON DISEASE 1642 191550 "URETER, BIFID OR DOUBLE" 1643 191600 "URETER, CANCER OF" 1644 191650 URETEROCELE 1645 191700 URIC ACID UROLITHIASIS 1646 191800 "URINARY BLADDER, ATONY OF" 1647 191830 RENAL ADYSPLASIA 1648 191850 "URTICARIA, AQUAGENIC" 1649 191900 MUCKLE-WELLS SYNDROME 1650 191950 "URTICARIA, FAMILIAL LOCALIZED HEAT" 1651 192000 UTERINE ANOMALIES 1652 192050 UTERUS BICORNIS BICOLLIS WITH PARTIAL VAGINAL SEPTUM AND UNILATERAL HEMATOCOLPOS WITH IPSILATERAL RENAL AGENESIS 1653 192100 "UVULA, BIFID" 1654 192200 VARICOSE VEINS 1655 192300 VASCULAR HELIX OF UMBILICAL CORD 1656 192310 "VASCULITIS, LYMPHOCYTIC, NODULAR" 1657 192315 "VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHY" 1658 192350 "VATER ASSOCIATION VACTERL ASSOCIATION, INCLUDED" 1659 192400 "VEINS, PATTERN OF, ON ANTERIOR THORAX" 1660 192430 VELOCARDIOFACIAL SYNDROME 1661 192445 "VENTRICULAR EXTRASYSTOLES WITH SYNCOPE, PERODACTYLY, AND ROBIN SEQUENCE" 1662 192500 LONG QT SYNDROME 1; LQT1 1663 192600 "CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC; CMH" 1664 192605 "VENTRICULAR TACHYCARDIA, FAMILIAL" 1665 192700 "VENULAR INSUFFICIENCY, SYSTEMIC" 1666 192800 "VERTEBRAL FUSION, POSTERIOR LUMBOSACRAL, WITH BLEPHAROPTOSIS" 1667 192900 VERTEBRAL HYPOPLASIA WITH LUMBAR KYPHOSIS 1668 192950 "VERTICAL TALUS, CONGENITAL; CVT" 1669 193000 VESICOURETERAL REFLUX 1; VUR1 1670 193003 "NYSTAGMUS 4, CONGENITAL, AUTOSOMAL DOMINANT; NYS4" 1671 193005 "VESTIBULOCOCHLEAR DYSFUNCTION, PROGRESSIVE" 1672 193007 "VESTIBULOPATHY, FAMILIAL" 1673 193050 VIBRATORY ANGIOEDEMA 1674 193100 "HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT; ADHR" 1675 193200 VITILIGO VTLG 1676 193220 VITREORETINOCHOROIDOPATHY; VRCP 1677 193230 "VITREORETINAL DEGENERATION, SNOWFLAKE TYPE; SVD" 1678 193235 "VITREORETINOPATHY, NEOVASCULAR INFLAMMATORY; VRNI" 1679 193240 VOCAL CORD PARALYSIS AND PTOSIS 1680 193250 VOLVULUS OF MIDGUT 1681 193300 VON HIPPEL-LINDAU SYNDROME; VHL 1682 193400 VON WILLEBRAND DISEASE 1683 193450 "VULVOVAGINITIS, ALLERGIC SEMINAL" 1684 193500 "WAARDENBURG SYNDROME, TYPE I; WS1" 1685 193510 "WAARDENBURG SYNDROME, TYPE IIA; WS2A WS2" 1686 193520 WATSON SYNDROME 1687 193530 WEYERS ACROFACIAL DYSOSTOSIS 1688 193670 WHIM SYNDROME 1689 193680 "WHISPERING DYSPHONIA, HEREDITARY" 1690 193700 "ARTHROGRYPOSIS, DISTAL, TYPE 2A; DA2A" 1691 193900 WHITE SPONGE NEVUS OF CANNON 1692 194000 WIDOW'S PEAK 1693 194050 WILLIAMS-BEUREN SYNDROME; WBS 1694 194070 WILMS TUMOR 1; WT1 1695 194072 WAGR SYNDROME 1696 194080 DENYS-DRASH SYNDROME; DDS 1697 194090 WILMS TUMOR 3; WT3 1698 194100 "WISDOM TEETH, ABSENCE OF" 1699 194190 "WOLF-HIRSCHHORN SYNDROME; WHS WOLF-HIRSCHHORN CHROMOSOME REGION, INCLUDED; WHCR, INCLUDED; WHSCR," 1700 194200 WOLFF-PARKINSON-WHITE SYNDROME 1701 194300 "WOOLLY HAIR, AUTOSOMAL DOMINANT" 1702 194320 WORONETS TRAIT 1703 194350 WT LIMB-BLOOD SYNDROME 1704 194380 DEHYDRATED HEREDITARY STOMATOCYTOSIS; DHS 1705 194400 "XERODERMA PIGMENTOSUM, AUTOSOMAL DOMINANT, MILD" 1706 194470 "ZINC, ELEVATED PLASMA" 1707 200100 ABETALIPOPROTEINEMIA; ABL 1708 200110 ABLEPHARON-MACROSTOMIA SYNDROME 1709 200130 ABSENT EYEBROWS AND EYELASHES WITH MENTAL RETARDATION 1710 200150 CHOREOACANTHOCYTOSIS; CHAC 1711 200170 ACANTHOSIS NIGRICANS WITH MUSCLE CRAMPS AND ACRAL ENLARGEMENT 1712 200300 ACETOPHENETIDIN SENSITIVITY 1713 200400 "ACHALASIA, FAMILIAL ESOPHAGEAL" 1714 200450 ACHALASIA-MICROCEPHALY SYNDROME 1715 200500 ACHEIROPODY 1716 200600 "ACHONDROGENESIS, TYPE IA; ACG1A" 1717 200610 "ACHONDROGENESIS, TYPE II; ACG2" 1718 200700 "CHONDRODYSPLASIA, GREBE TYPE" 1719 200710 "ACHONDROGENESIS, TYPE III" 1720 200720 "ACHONDROGENESIS, TYPE IV" 1721 200900 "ACHONDROPLASIA, SO-CALLED, AND SEVERE COMBINED IMMUNODEFICIENCY" 1722 200950 ACID PHOSPHATASE DEFICIENCY 1723 200970 ACKERMAN SYNDROME 1724 200980 ACRORENAL-MANDIBULAR SYNDROME 1725 200990 ACROCALLOSAL SYNDROME; ACLS 1726 200995 ACROCEPHALOPOLYDACTYLOUS DYSPLASIA 1727 201000 CARPENTER SYNDROME 1728 201020 ACROCEPHALOPOLYSYNDACTYLY TYPE IV 1729 201050 ACROCRANIOFACIAL DYSOSTOSIS 1730 201100 "ACRODERMATITIS ENTEROPATHICA, ZINC-DEFICIENCY TYPE; AEZ" 1731 201170 ACROFACIAL DYSOSTOSIS SYNDROME OF RODRIGUEZ 1732 201180 ACROFRONTOFACIONASAL DYSOSTOSIS SYNDROME 1733 201200 "ACROGERIA, GOTTRON TYPE" 1734 201250 "ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE" 1735 201300 "NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE II; HSAN2" 1736 201310 "ACRORENAL SYNDROME, AUTOSOMAL RECESSIVE" 1737 201400 ACTH DEFICIENCY 1738 201450 "ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF" 1739 201460 "ACYL-CoA DEHYDROGENASE, LONG-CHAIN, DEFICIENCY OF" 1740 201470 "ACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF" 1741 201475 "ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF" 1742 201550 ADDUCTED THUMBS SYNDROME 1743 201710 LIPOID CONGENITAL ADRENAL HYPERPLASIA 1744 201750 POR DEFICIENCY 1745 201810 "3-@BETA-HYDROXYSTEROID DEHYDROGENASE, TYPE II, DEFICIENCY OF" 1746 201910 "ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY" 1747 202110 "ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 17-ALPHA-HYDROXYLASE DEFICIENCY" 1748 202150 "ADRENAL HYPOPLASIA, CONGENITAL, WITH ABSENT PITUITARY LUTEINIZING HORMONE" 1749 202155 "ADRENAL HYPOPLASIA, CYTOMEGALIC TYPE" 1750 202200 GLUCOCORTICOID DEFICIENCY 1; GCCD1 1751 202300 "ADRENOCORTICAL CARCINOMA, HEREDITARY; ADCC ADRENOCORTICAL CARCINOMA, PEDIATRIC, INCLUDED" 1752 202370 "ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL FORM" 1753 202400 "AFIBRINOGENEMIA, CONGENITAL" 1754 202550 "AGANGLIONOSIS, TOTAL INTESTINAL" 1755 202600 AGENESIS OF CEREBRAL WHITE MATTER 1756 202650 DYSGNATHIA COMPLEX 1757 202660 AGONADISM WITH MULTIPLE INTERNAL MALFORMATIONS 1758 202700 "NEUTROPENIA, SEVERE CONGENITAL, AUTOSOMAL DOMINANT 1; SCN1" 1759 202900 "ALANINURIA WITH MICROCEPHALY, DWARFISM, ENAMEL HYPOPLASIA, AND DIABETES MELLITUS" 1760 203000 FRONTONASAL DYSPLASIA WITH ALAR CLEFTS 1761 203100 "ALBINISM, OCULOCUTANEOUS, TYPE IA; OCA1A" 1762 203200 "ALBINISM, OCULOCUTANEOUS, TYPE II; OCA2" 1763 203280 MOVED TO 606952 1764 203285 MOVED TO 608233 1765 203290 "ALBINISM, OCULOCUTANEOUS, TYPE III; OCA3" 1766 203300 HERMANSKY-PUDLAK SYNDROME; HPS 1767 203310 MOVED TO 203200 1768 203330 "PSEUDOHYPOPARATHYROIDISM, TYPE II" 1769 203340 ALBINISM-MICROCEPHALY-DIGITAL ANOMALIES SYNDROME 1770 203400 CORTICOSTERONE METHYLOXIDASE TYPE I DEFICIENCY 1771 203450 ALEXANDER DISEASE 1772 203500 ALKAPTONURIA 1773 203550 ALOPECIA-CONTRACTURES-DWARFISM MENTAL RETARDATION SYNDROME 1774 203600 ALOPECIA-EPILEPSY-OLIGOPHRENIA SYNDROME OF MOYNAHAN 1775 203650 ALOPECIA-MENTAL RETARDATION SYNDROME 1 1776 203655 ALOPECIA UNIVERSALIS CONGENITA; ALUNC 1777 203700 ALPERS DIFFUSE DEGENERATION OF CEREBRAL GRAY MATTER WITH HEPATIC CIRRHOSIS 1778 203750 ALPHA-METHYLACETOACETIC ACIDURIA 1779 203780 "ALPORT SYNDROME, AUTOSOMAL RECESSIVE" 1780 203800 ALSTROM SYNDROME; ALMS 1781 204000 "LEBER CONGENITAL AMAUROSIS, TYPE I; LCA1" 1782 204100 "LEBER CONGENITAL AMAUROSIS, TYPE II; LCA2" 1783 204110 "AMAUROSIS CONGENITA, CONE-ROD TYPE, WITH CONGENITAL HYPERTRICHOSIS" 1784 204200 "CEROID LIPOFUSCINOSIS, NEURONAL, 3; CLN3" 1785 204300 "CEROID LIPOFUSCINOSIS, NEURONAL, 4A, AUTOSOMAL RECESSIVE; CLN4A" 1786 204500 "CEROID LIPOFUSCINOSIS, NEURONAL, 2; CLN2" 1787 204650 "AMELOGENESIS IMPERFECTA, TYPE IC; AI1C" 1788 204690 "AMELOGENESIS IMPERFECTA, TYPE IG; AI1G" 1789 204700 "AMELOGENESIS IMPERFECTA, PIGMENTED HYPOMATURATION TYPE" 1790 204730 "AMINO ACIDURIA WITH MENTAL DEFICIENCY, DWARFISM, MUSCULAR DYSTROPHY, OSTEOPOROSIS, AND ACIDOSIS" 1791 204750 AMINOADIPIC ACIDURIA 1792 204800 "AMOBARBITAL, DEFICIENT N-HYDROXYLATION OF" 1793 204850 "AMYLOIDOSIS OF GINGIVA AND CONJUNCTIVA, WITH MENTAL RETARDATION" 1794 204870 "CORNEAL DYSTROPHY, GELATINOUS DROP-LIKE" 1795 204900 "AMYLOIDOSIS, CUTANEOUS BULLOUS" 1796 205000 AMYOTONIA CONGENITA 1797 205100 "AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE; ALS2" 1798 205200 "AMYOTROPHIC LATERAL SCLEROSIS, JUVENILE, WITH DEMENTIA" 1799 205250 AMYOTROPHIC LATERAL SCLEROSIS WITH POLYGLUCOSAN BODIES 1800 205400 TANGIER DISEASE; TGD 1801 205600 MOVED TO 105650 1802 205700 "ANEMIA, AUTOIMMUNE HEMOLYTIC" 1803 205900 MOVED TO 105650 1804 205950 "ANEMIA, CONGENITAL SIDEROBLASTIC, B6-NONRESPONSIVE" 1805 206000 "ANEMIA, FAMILIAL PYRIDOXINE-RESPONSIVE" 1806 206100 "ANEMIA, HYPOCHROMIC MICROCYTIC" 1807 206200 "ANEMIA, MICROCYTIC" 1808 206300 "ANEMIA, NONSPHEROCYTIC HEMOLYTIC, ASSOCIATED WITH ABNORMALITY OF RED CELL MEMBRANE" 1809 206400 "ANEMIA, NONSPHEROCYTIC HEMOLYTIC, POSSIBLY DUE TO DEFECT IN PORPHYRIN METABOLISM" 1810 206500 ANENCEPHALY 1811 206550 "ANGIOLIPOMATOSIS, FAMILIAL" 1812 206570 "ANGIOMATOSIS, DIFFUSE CORTICOMENINGEAL, OF DIVRY AND VAN BOGAERT" 1813 206600 ANHIDROSIS 1814 206700 "ANIRIDIA, CEREBELLAR ATAXIA, AND MENTAL DEFICIENCY" 1815 206750 "ANIRIDIA, PARTIAL, WITH UNILATERAL RENAL AGENESIS AND PSYCHOMOTOR RETARDATION" 1816 206780 ANODONTIA OF PERMANENT DENTITION 1817 206800 ANONYCHIA CONGENITA 1818 206900 "MICROPHTHALMIA, SYNDROMIC 3; MCOPS3" 1819 206920 MICROPHTHALMIA WITH LIMB ANOMALIES 1820 207000 ANOSMIA FOR ISOBUTYRIC ACID 1821 207300 "ANTITHROMBIN, FAMILIAL HEMORRHAGIC DIATHESIS DUE TO" 1822 207410 ANTLEY-BIXLER SYNDROME; ABS 1823 207500 "ANUS, IMPERFORATE" 1824 207600 TAKAYASU ARTERITIS 1825 207620 APHALANGY WITH HEMIVERTEBRAE 1826 207700 MOVED TO 107600 1827 207720 "APNEA, CENTRAL SLEEP" 1828 207731 APLASIA CUTIS CONGENITA WITH INTESTINAL LYMPHANGIECTASIA 1829 207750 APOLIPOPROTEIN C-II DEFICIENCY 1830 207765 "APPARENT MINERALOCORTICOID EXCESS, TYPE 2; AME2" 1831 207770 APROSENCEPHALY SYNDROME 1832 207780 AREDYLD 1833 207790 "ARACHNOID CYSTS, INTRACRANIAL" 1834 207800 ARGININEMIA 1835 207900 ARGININOSUCCINIC ACIDURIA 1836 207950 CHIARI MALFORMATION TYPE II 1837 208000 "ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY; GACI" 1838 208050 ARTERIAL TORTUOSITY SYNDROME; ATS 1839 208060 "ARTERIOSCLEROSIS, SEVERE JUVENILE" 1840 208080 "ARTHROGRYPOSIS, DISTAL, WITH HYPOPITUITARISM, MENTAL RETARDATION, AND FACIAL ANOMALIES" 1841 208081 "ARTHROGRYPOSIS, DISTAL, WITH MENTAL RETARDATION AND CHARACTERISTIC FACIES" 1842 208085 "ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS" 1843 208100 "ARTHROGRYPOSIS MULTIPLEX CONGENITA, NEUROGENIC TYPE; AMCN" 1844 208150 FETAL AKINESIA DEFORMATION SEQUENCE; FADS 1845 208155 ARTHROGRYPOSIS MULTIPLEX CONGENITA WITH WHISTLING FACE 1846 208158 ARTHROGRYPOSIS WITH HYPERKERATOSIS 1847 208200 ARTHROGRYPOSIS-LIKE DISORDER 1848 208230 "ARTHROPATHY, PROGRESSIVE PSEUDORHEUMATOID, OF CHILDHOOD; PPAC" 1849 208250 CAMPTODACTYLY-ARTHROPATHY-COXA VARA-PERICARDITIS SYNDROME; CACP 1850 208300 "ASCITES, CHYLOUS" 1851 208400 ASPARTYLGLUCOSAMINURIA 1852 208500 ASPHYXIATING THORACIC DYSTROPHY 1; ATD1 1853 208530 ASPLENIA WITH CARDIOVASCULAR ANOMALIES 1854 208540 "ASPLENIA WITH CYSTIC LIVER, KIDNEY, AND PANCREAS" 1855 208550 "ASTHMA, NASAL POLYPS, AND ASPIRIN INTOLERANCE" 1856 208600 "ASTHMA, SHORT STATURE, AND ELEVATED IgA" 1857 208700 ATAXIA WITH MYOCLONIC EPILEPSY AND PRESENILE DEMENTIA 1858 208750 "ATAXIA, DEAFNESS, AND CARDIOMYOPATHY" 1859 208850 ATAXIA-DEAFNESS-RETARDATION SYNDROME 1860 208870 ATAXIA-MICROCEPHALY-CATARACT SYNDROME 1861 208900 ATAXIA-TELANGIECTASIA; AT 1862 208920 "ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA; EAOH" 1863 209000 ATAXIC DIPLEGIA WITH DEFECTIVE CELLULAR IMMUNITY 1864 209050 "ATHROMBIA, ESSENTIAL" 1865 209100 ATONIC-ASTATIC SYNDROME OF FOERSTER 1866 209300 ATRANSFERRINEMIA 1867 209500 ATRICHIA WITH PAPULAR LESIONS; APL 1868 209600 ATRIOVENTRICULAR DISSOCIATION 1869 209700 ATROPHODERMIA VERMICULATA 1870 209770 "AURAL ATRESIA, MULTIPLE CONGENITAL ANOMALIES, AND MENTAL RETARDATION" 1871 209850 AUTISM 1872 209880 "AUTONOMIC CONTROL, CONGENITAL FAILURE OF" 1873 209885 BARBER-SAY SYNDROME 1874 209900 BARDET-BIEDL SYNDROME; BBS 1875 209920 "BARE LYMPHOCYTE SYNDROME, TYPE II" 1876 209950 "ATYPICAL MYCOBACTERIOSIS, FAMILIAL" 1877 209970 BEEMER LETHAL MALFORMATION SYNDROME 1878 210000 BEHR SYNDROME 1879 210050 "BERRY ANEURYSM, CIRRHOSIS, PULMONARY EMPHYSEMA, AND CEREBRAL CALCIFICATION" 1880 210200 3-@METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY 1881 210210 3-@METHYLCROTONYL-CoA CARBOXYLASE 2 DEFICIENCY 1882 210250 SITOSTEROLEMIA 1883 210350 BIEMOND SYNDROME II 1884 210370 BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY 1885 210400 BIFID NOSE 1886 210450 "BILE ACID, SYNTHETIC DEFECT OF" 1887 210500 "BILIARY ATRESIA, EXTRAHEPATIC; EHBA" 1888 210550 BILIARY MALFORMATION WITH RENAL TUBULAR INSUFFICIENCY 1889 210600 SECKEL SYNDROME 1 1890 210700 "BIRD-HEADED DWARFISM, MONTREAL TYPE" 1891 210710 "MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I" 1892 210720 "MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II" 1893 210730 "MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE III" 1894 210740 "BIRD-HEADED DWARFISM WITH PROGRESSIVE ATAXIA, INSULIN-RESISTANT DIABETES, GOITER, AND PRIMARY GONADAL INSUFFICIENCY" 1895 210745 "BLEPHAROPHIMOSIS WITH PTOSIS, SYNDACTYLY, AND SHORT STATURE" 1896 210750 "SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 6; SHEP6" 1897 210900 BLOOM SYNDROME; BLM 1898 211000 BLUE DIAPER SYNDROME 1899 211120 "BONE DYSPLASIA, LETHAL, HOLMGREN TYPE" 1900 211170 BORRONE DERMATOCARDIOSKELETAL SYNDROME 1901 211180 BOWEN-CONRADI SYNDROME; BWCNS 1902 211200 BOWEN SYNDROME OF MULTIPLE MALFORMATIONS 1903 211350 KYPHOMELIC DYSPLASIA 1904 211355 "BOWING OF LONG BONES, ASYMMETRIC AND SYMMETRIC" 1905 211369 "BRACHYDACTYLY, TYPE A2, WITH MICROCEPHALY" 1906 211370 BRACHYMETAPODY-ANODONTIA-HYPOTRICHOSIS-ALBINOIDISM 1907 211380 BRACHIOSKELETOGENITAL SYNDROME 1908 211390 SABINAS BRITTLE HAIR SYNDROME 1909 211400 BRONCHIECTASIS 1910 211410 "BREAST CANCER, DUCTAL, 1; BRCD1" 1911 211450 BRONCHOMALACIA 1912 211500 "BULBAR PALSY, PROGRESSIVE, OF CHILDHOOD" 1913 211530 "BULBAR PALSY, PROGRESSIVE, WITH SENSORINEURAL DEAFNESS" 1914 211600 "CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 1; PFIC1" 1915 211750 C SYNDROME 1916 211770 CAHMR SYNDROME 1917 211800 CALCIFICATION OF JOINTS AND ARTERIES 1918 211890 "CAMPOMELIA, CUMMING TYPE" 1919 211900 "TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL; HFTC" 1920 211910 "CAMPTODACTYLY SYNDROME, GUADALAJARA, TYPE I; GCS1" 1921 211920 "CAMPTODACTYLY SYNDROME, GUADALAJARA, TYPE II" 1922 211930 CAMPTODACTYLY WITH FIBROUS TISSUE HYPERPLASIA AND SKELETAL DYSPLASIA 1923 211965 CAMPTODACTYLY-ICHTHYOSIS SYNDROME 1924 211980 LUNG CANCER 1925 211990 "CAMPTOMELIC SYNDROME, LONG-LIMB TYPE" 1926 212050 "CANDIDIASIS, FAMILIAL CHRONIC MUCOCUTANEOUS, AUTOSOMAL RECESSIVE" 1927 212060 CARBIMAZOLE SENSITIVITY 1928 212065 "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia; CDG1A" 1929 212066 "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIa; CDG2A" 1930 212067 "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE I/IIx" 1931 212070 CARBOXYPEPTIDASE N DEFICIENCY 1932 212080 "CARDIAC LIPIDOSIS, FAMILIAL" 1933 212090 CARDIAC SEPTAL DEFECTS WITH COARCTATION OF THE AORTA 1934 212093 "CARDIAC VALVULAR DEFECT, DEVELOPMENTAL" 1935 212100 CARDIOAUDITORY SYNDROME OF SANCHEZ CASCOS 1936 212110 "CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE" 1937 212112 "CARDIOMYOPATHY, CONGESTIVE, WITH HYPERGONADOTROPIC HYPOGONADISM" 1938 212120 CARDIOGENITAL SYNDROME 1939 212130 CARDIOMYOPATHY ASSOCIATED WITH MYOPATHY AND SUDDEN DEATH 1940 212135 "CARDIOSKELETAL SYNDROME, KUWAITI TYPE" 1941 212140 "CARNITINE DEFICIENCY, SYSTEMIC PRIMARY; CDSP" 1942 212160 "CARNITINE DEFICIENCY, MYOPATHIC" 1943 212200 CARNOSINEMIA 1944 212350 CATARACT AND CARDIOMYOPATHY 1945 212360 CATARACT-ALOPECIA-SCLERODACTYLY SYNDROME; CASS 1946 212400 CATARACT AND CONGENITAL ICHTHYOSIS 1947 212500 "CATARACT, CONGENITAL OR JUVENILE CATARACT, JUVENILE, HUTTERITE TYPE, INCLUDED" 1948 212540 "CATARACT, MICROCEPHALY, FAILURE TO THRIVE, KYPHOSCOLIOSIS SYNDROME" 1949 212550 "MICROPHTHALMIA, ISOLATED, WITH CATARACT 2; MCOPCT2" 1950 212710 CATARACT-ATAXIA-DEAFNESS-RETARDATION SYNDROME 1951 212720 MARTSOLF SYNDROME 1952 212780 CENANI SYNDACTYLISM 1953 212790 PREMATURE CENTROMERE DIVISION; PCD 1954 212800 CEPHALIN LIPIDOSIS 1955 212835 CEREBELLAR ATAXIA AND ECTODERMAL DYSPLASIA 1956 212840 CEREBELLAR ATAXIA AND HYPOGONADOTROPIC HYPOGONADISM 1957 212850 CEREBELLAR ATAXIA AND NEUROSENSORY DEAFNESS 1958 212890 "CEREBELLAR ATAXIA, BENIGN, WITH THERMOANALGESIA" 1959 212895 "CEREBELLAR ATAXIA, EARLY-ONSET, WITH RETAINED TENDON REFLEXES; EOCA" 1960 212900 "CEREBELLAR ATAXIA, INFANTILE, WITH PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA" 1961 213000 CEREBELLAR HYPOPLASIA 1962 213002 CEREBELLAR HYPOPLASIA WITH ENDOSTEAL SCLEROSIS 1963 213010 CEREBELLAR VERMIS APLASIA WITH ASSOCIATED FEATURES SUGGESTING SMITH-LEMLI-OPITZ SYNDROME AND MECKEL SYNDROME 1964 213100 CEREBELLOPARENCHYMAL DISORDER II; CPD2 1965 213200 "SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2; SCAR2" 1966 213300 JOUBERT SYNDROME 1; JBTS1 1967 213400 CEREBELLOPARENCHYMAL DISORDER V; CPD5 1968 213500 "CEREBRAL ANGIOPATHY, DYSPHORIC" 1969 213600 "BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1; IBGC1" 1970 213700 CEREBROTENDINOUS XANTHOMATOSIS 1971 213820 "CEREBRAL MALFORMATION, SEIZURES, HYPERTRICHOSIS, AND OVERLAPPING FINGERS" 1972 213950 CEREBROCORTICAL DEGENERATION OF INFANCY 1973 213980 CEREBROFACIOTHORACIC DYSPLASIA 1974 214100 ZELLWEGER SYNDROME; ZS 1975 214110 "CEREBROHEPATORENAL SYNDROME, VARIANT TYPES" 1976 214150 CEREBROOCULOFACIOSKELETAL SYNDROME 1; COFS1 1977 214200 CEROID STORAGE DISEASE 1978 214290 "CERVICAL VERTEBRAE, AGENESIS OF" 1979 214300 "KLIPPEL-FEIL SYNDROME, AUTOSOMAL RECESSIVE" 1980 214350 CHANDS 1981 214370 "NEUROPATHY, HEREDITARY MOTOR AND SENSORY, WITH DEAFNESS, MENTAL RETARDATION, AND ABSENT SENSORY LARGE MYELINATED FIBERS" 1982 214400 "CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A; CMT4A" 1983 214450 "GRISCELLI SYNDROME, TYPE 1; GS1" 1984 214500 CHEDIAK-HIGASHI SYNDROME; CHS 1985 214700 "DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL" 1986 214800 CHARGE SYNDROME 1987 214900 CHOLESTASIS-LYMPHEDEMA SYNDROME 1988 214950 "BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4" 1989 214980 "CHOLESTASIS WITH GALLSTONE, ATAXIA, AND VISUAL DISTURBANCE" 1990 215030 CHOLESTEROL PNEUMONIA 1991 215045 "CHONDRODYSPLASIA, BLOMSTRAND TYPE; BOCD" 1992 215050 CHONDRODYSPLASIA CALCIFICANS METAPHYSEALIS 1993 215100 "RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1; RCDP1" 1994 215105 CHONDRODYSPLASIA PUNCTATA SYNDROME 1995 215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA 1996 215150 OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA; OSMED 1997 215250 "CHONDROITIN-6-SULFATURIA, DEFECTIVE CELLULAR IMMUNITY, NEPHROTIC SYNDROME" 1998 215300 CHONDROSARCOMA 1999 215400 CHORDOMA; CHDM 2000 215450 "CHOREA, BENIGN FAMILIAL" 2001 215470 "CHORIORETINAL DYSTROPHY, SPINOCEREBELLAR ATAXIA, AND HYPOGONADOTROPIC HYPOGONADISM" 2002 215480 CHOROID PLEXUS CALCIFICATION AND MENTAL RETARDATION 2003 215500 "CHOROIDAL DYSTROPHY, CENTRAL AREOLAR; CACD" 2004 215510 CHROMOSOMAL INSTABILITY WITH TISSUE-SPECIFIC RADIOSENSITIVITY 2005 215518 CILIARY DISCOORDINATION DUE TO RANDOM CILIARY ORIENTATION 2006 215520 CILIARY DYSKINESIA DUE TO TRANSPOSITION OF CILIARY MICROTUBULES 2007 215550 CIRCUMVALLATE PLACENTA SYNDROME 2008 215600 "CIRRHOSIS, FAMILIAL" 2009 215700 "CITRULLINEMIA, CLASSIC" 2010 215720 CITRULLINE TRANSPORT DEFECT 2011 215800 "CLEFT LARYNX, POSTERIOR STRIDOR, CONGENITAL, INCLUDED" 2012 215850 CLEFT-LIMB-HEART MALFORMATION SYNDROME 2013 216100 CLEFT LIP/PALATE WITH ABNORMAL THUMBS AND MICROCEPHALY 2014 216300 "CLEFT PALATE, DEAFNESS, AND OLIGODONTIA" 2015 216330 "CLEIDOCRANIAL DYSPLASIA, RECESSIVE FORM" 2016 216340 "CLEIDOCRANIAL DYSPLASIA WITH MICROGNATHIA, ABSENT THUMBS, AND DISTAL APHALANGIA" 2017 216360 COACH SYNDROME 2018 216400 "COCKAYNE SYNDROME, TYPE A; CSA" 2019 216411 "COCKAYNE SYNDROME, TYPE III" 2020 216550 COHEN SYNDROME; COH1 2021 216700 "COLLAGENOSIS, FAMILIAL REACTIVE PERFORATING" 2022 216800 COLOBOMA OF MACULA AND SKELETAL ANOMALIES 2023 216820 "COLOBOMA, OCULAR" 2024 216900 ACHROMATOPSIA 2; ACHM2 2025 216920 COMBINED INFLAMMATORY AND IMMUNOLOGIC DEFECT 2026 216950 COMPLEMENT COMPONENT C1r DEFICIENCY 2027 217000 COMPLEMENT COMPONENT 2 DEFICIENCY 2028 217050 COMPLEMENT COMPONENT 6 DEFICIENCY 2029 217070 COMPLEMENT COMPONENT 7; C7 2030 217080 CONE-ROD DYSTROPHY AND AMELOGENESIS IMPERFECTA 2031 217085 "CONGENITAL HEART DEFECTS, HAMARTOMAS OF TONGUE, AND POLYSYNDACTYLY" 2032 217090 "PLASMINOGEN DEFICIENCY, TYPE I" 2033 217095 CONOTRUNCAL HEART MALFORMATIONS; CTHM 2034 217100 "CONSTRICTING BANDS, CONGENITAL" 2035 217150 "CONTRACTURES, CONGENITAL, TORTICOLLIS, AND MALIGNANT HYPERTHERMIA" 2036 217200 "CONVULSIVE DISORDER, FAMILIAL, WITH PRENATAL OR EARLY ONSET" 2037 217300 CORNEA PLANA 2; CNA2 2038 217400 CORNEAL DYSTROPHY AND PERCEPTIVE DEAFNESS 2039 217500 "CORNEAL DYSTROPHY, BAND-SHAPED" 2040 217520 "CORNEAL DEGENERATION, BAND-SHAPED SPHEROID" 2041 217600 "CORNEAL DYSTROPHY, CENTRAL TYPE" 2042 217700 CORNEAL ENDOTHELIAL DYSTROPHY 2; CHED2 2043 217800 "MACULAR DYSTROPHY, CORNEAL, 1; MCDC1" 2044 217980 "CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND ROBIN SEQUENCE" 2045 217990 "CORPUS CALLOSUM, AGENESIS OF" 2046 218000 AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY; ACCPN 2047 218010 "CORTICAL BLINDNESS, RETARDATION, AND POSTAXIAL POLYDACTYLY" 2048 218040 COSTELLO SYNDROME 2049 218050 "CRAMPS, FAMILIAL ADOLESCENT" 2050 218090 CRANE-HEISE SYNDROME 2051 218100 "CRANIAL NERVES, CONGENITAL PARESIS OF" 2052 218200 "CRANIAL NERVES, RECURRENT PARESIS OF" 2053 218300 CRANIODIAPHYSEAL DYSPLASIA; CDD 2054 218330 CRANIOECTODERMAL DYSPLASIA 2055 218340 "CRANIOFACIAL DYSMORPHISM WITH OCULAR COLOBOMA, ABSENT CORPUS CALLOSUM, AND AORTIC DILATATION" 2056 218350 CRANIOFACIAL DYSSYNOSTOSIS WITH SHORT STATURE 2057 218400 "CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE; CMDR" 2058 218450 "CRANIOSTENOSIS, SAGITTAL, WITH CONGENITAL HEART DISEASE, MENTAL DEFICIENCY, AND MANDIBULAR ANKYLOSIS" 2059 218455 CRANIOSYNOSTOSIS-MICROCEPHALY WITH CHROMOSOMAL BREAKAGE AND OTHER ABNORMALITIES 2060 218500 CRANIOSYNOSTOSIS 2061 218600 BALLER-GEROLD SYNDROME; BGS 2062 218649 CRANIOSYNOSTOSIS-MENTAL RETARDATION SYNDROME OF LIN AND GETTIG 2063 218650 CRANIOSYNOSTOSIS-MENTAL RETARDATION-CLEFTING SYNDROME 2064 218670 CRANIOTELENCEPHALIC DYSPLASIA 2065 218700 "HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2; CHNG2" 2066 218800 CRIGLER-NAJJAR SYNDROME 2067 218900 CROME SYNDROME 2068 219000 FRASER SYNDROME 2069 219050 "CRYPTORCHIDISM, UNILATERAL OR BILATERAL" 2070 219070 CURVED NAIL OF FOURTH TOE 2071 219080 ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA; AIMAH 2072 219095 "CUTANEOUS PHOTOSENSITIVITY AND COLITIS, LETHAL" 2073 219100 "CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE I" 2074 219150 "CUTIS LAXA, CORNEAL CLOUDING, AND MENTAL RETARDATION" 2075 219200 "CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE II" 2076 219250 CUTIS MARMORATA TELANGIECTATICA CONGENITA; CMTC 2077 219300 CUTIS VERTICIS GYRATA AND MENTAL DEFICIENCY; CVG/MR 2078 219500 CYSTATHIONINURIA 2079 219550 CYSTEINE PEPTIDURIA 2080 219700 CYSTIC FIBROSIS; CF 2081 219721 "CYSTIC FIBROSIS WITH HELICOBACTER PYLORI GASTRITIS, MEGALOBLASTIC ANEMIA, AND SUBNORMAL MENTALITY" 2082 219750 "CYSTINOSIS, ADULT NONNEPHROPATHIC" 2083 219800 "CYSTINOSIS, NEPHROPATHIC; CTNS" 2084 219900 "CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE" 2085 220100 CYSTINURIA 2086 220110 MITOCHONDRIAL COMPLEX IV DEFICIENCY 2087 220111 "LEIGH SYNDROME, FRENCH-CANADIAN TYPE; LSFC" 2088 220120 D-GLYCERIC ACIDEMIA 2089 220150 "HYPOURICEMIA, RENAL" 2090 220200 DANDY-WALKER SYNDROME; DWS 2091 220210 DANDY-WALKER-LIKE MALFORMATION WITH ATRIOVENTRICULAR SEPTAL DEFECT 2092 220219 "DANDY-WALKER MALFORMATION WITH MENTAL RETARDATION, MACROCEPHALY, MYOPIA, AND BRACHYTELEPHALANGY" 2093 220220 DANDY-WALKER MALFORMATION WITH POSTAXIAL POLYDACTYLY 2094 220290 "DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE 1; DFNB1" 2095 220300 "DEAFNESS, CONGENITAL, AND FAMILIAL MYOCLONIC EPILEPSY" 2096 220400 JERVELL AND LANGE-NIELSEN SYNDROME; JLNS1 2097 220500 "DEAFNESS, CONGENITAL, AND ONYCHODYSTROPHY, RECESSIVE FORM" 2098 220600 SPLIT-HAND/FOOT MALFORMATION WITH SENSORINEURAL HEARING LOSS 2099 220700 "DEAFNESS, AUTOSOMAL RECESSIVE" 2100 220900 "DEAFNESS, CONGENITAL, WITH TOTAL ALBINISM" 2101 221200 "DEAFNESS, COCHLEAR, WITH MYOPIA AND INTELLECTUAL IMPAIRMENT" 2102 221300 "DEAFNESS, CONDUCTIVE, WITH MALFORMED EXTERNAL EAR" 2103 221320 "DEAFNESS, CONDUCTIVE, WITH PTOSIS AND SKELETAL ANOMALIES" 2104 221350 "DEAFNESS, CONGENITAL, WITH VITILIGO AND ACHALASIA" 2105 221400 "DEAFNESS, NERVE TYPE, WITH MESENTERIC DIVERTICULA OF SMALL BOWEL AND PROGRESSIVE SENSORY NEUROPATHY" 2106 221500 "DEAFNESS, NEURAL, CONGENITAL MODERATE" 2107 221600 MOVED TO 220290 2108 221650 MOVED TO 220290 2109 221700 "DEAFNESS, NEURAL, WITH ATYPICAL ATOPIC DERMATITIS" 2110 221740 DEAFNESS-OLIGODONTIA SYNDROME 2111 221750 "DEAFNESS, SENSORINEURAL, WITH PITUITARY DWARFISM" 2112 221760 "DERMATOGLYPHICS--PALMAR TRIRADIUS d, ABSENCE OF" 2113 221770 POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY; PLOSL 2114 221780 DERMATOGLYPHICS--HYPOTHENAR RADIAL ARCH 2115 221790 DERMATOLEUKODYSTROPHY 2116 221800 DERMOCHONDROCORNEAL DYSTROPHY 2117 221810 "DERMATOOSTEOLYSIS, KIRGHIZIAN TYPE" 2118 221820 "GLIOSIS, FAMILIAL PROGRESSIVE SUBCORTICAL" 2119 221900 "RETINAL NONATTACHMENT, NONSYNDROMIC CONGENITAL; RNANC" 2120 221950 DEXTROCARDIA WITH UNUSUAL FACIES AND MICROPHTHALMIA 2121 221995 "DIABETES INSIPIDUS, NEPHROGENIC, WITH MENTAL RETARDATION AND INTRACEREBRAL CALCIFICATION" 2122 222000 MOVED TO 125800 2123 222100 "DIABETES MELLITUS, INSULIN-DEPENDENT; IDDM" 2124 222300 WOLFRAM SYNDROME 1; WFS1 2125 222350 DIAMINOPENTANURIA 2126 222400 DIAPHRAGMATIC HERNIA 2; DIH2 2127 222448 DONNAI-BARROW SYNDROME 2128 222470 TRICHOHEPATOENTERIC SYNDROME 2129 222500 DIASTEMATOMYELIA 2130 222600 DIASTROPHIC DYSPLASIA 2131 222690 DIBASIC AMINO ACIDURIA I 2132 222700 LYSINURIC PROTEIN INTOLERANCE; LPI 2133 222730 DICARBOXYLICAMINO ACIDURIA 2134 222760 DIGITORENOCEREBRAL SYNDROME 2135 222765 "RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2; RCDP2" 2136 222800 DIPHOSPHOGLYCERATE MUTASE DEFICIENCY OF ERYTHROCYTE 2137 222900 "SUCRASE-ISOMALTASE DEFICIENCY, CONGENITAL; CSID" 2138 223000 "LACTASE DEFICIENCY, CONGENITAL" 2139 223100 LACTASE PERSISTENCE 2140 223300 DISSEMINATED SCLEROSIS WITH NARCOLEPSY 2141 223320 "DIVERTICULOSIS, SMALL-INTESTINAL" 2142 223330 "DIVERTICULOSIS OF BOWEL, HERNIA, AND RETINAL DETACHMENT" 2143 223340 DK PHOCOMELIA SYNDROME 2144 223350 DOHLE BODIES AND LEUKEMIA 2145 223370 DUBOWITZ SYNDROME 2146 223400 DUODENAL ATRESIA 2147 223500 "DWARFISM, LOW-BIRTH-WEIGHT TYPE, WITH UNRESPONSIVENESS TO GROWTH HORMONE" 2148 223540 "DWARFISM, MENTAL RETARDATION, AND EYE ABNORMALITY" 2149 223550 "DWARFISM, PROPORTIONATE, WITH HIP DISLOCATION" 2150 223610 MOVED TO 228900 2151 223800 DYGGVE-MELCHIOR-CLAUSEN DISEASE; DMC 2152 223900 "NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; HSAN3" 2153 224000 DYSAUTONOMIA-LIKE DISORDER 2154 224050 "CEREBELLAR HYPOPLASIA, VLDLR-ASSOCIATED; VLDLRCH" 2155 224100 "ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE II; CDAN2" 2156 224120 "ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE I" 2157 224200 DYSGENESIS MESODERMALIS CORNEAE ET SCLERAE 2158 224230 "DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE" 2159 224250 DYSMYELINATION WITH JAUNDICE 2160 224300 DYSOSTEOSCLEROSIS 2161 224400 "DYSSEGMENTAL DYSPLASIA, ROLLAND-DESBUQUOIS TYPE" 2162 224410 "DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE; DDSH" 2163 224500 "DYSTONIA, TORSION, 2, AUTOSOMAL RECESSIVE; DYT2" 2164 224550 DYSTONIA WITH RINGBINDEN 2165 224690 "EAR, PATELLA, SHORT STATURE SYNDROME" 2166 224700 EBSTEIN ANOMALY 2167 224750 SCHOPF-SCHULZ-PASSARGE SYNDROME 2168 224800 ECTODERMAL DYSPLASIA AND NEUROSENSORY DEAFNESS 2169 224900 "ECTODERMAL DYSPLASIA, ANHIDROTIC" 2170 225000 ROSSELLI-GULIENETTI SYNDROME 2171 225040 "ECTODERMAL DYSPLASIA, HYPOHIDROTIC, WITH HYPOTHYROIDISM AND AGENESIS OF THE CORPUS CALLOSUM" 2172 225050 "ECTODERMAL DYSPLASIA, HYPOHIDROTIC, WITH HYPOTHYROIDISM AND CILIARY DYSKINESIA" 2173 225060 CLEFT LIP/PALATE-ECTODERMAL DYSPLASIA SYNDROME; CLPED1 2174 225100 ECTOPIA LENTIS 2175 225200 ECTOPIA LENTIS WITH ECTOPIA OF PUPIL 2176 225280 EEM SYNDROME 2177 225290 ECTRODACTYLY-POLYDACTYLY 2178 225300 ECTRODACTYLY 2179 225310 EHLERS-DANLOS SYNDROME WITH PLATELET DYSFUNCTION FROM FIBRONECTIN ABNORMALITY 2180 225320 "EHLERS-DANLOS SYNDROME, AUTOSOMAL RECESSIVE, CARDIAC VALVULAR FORM" 2181 225400 "EHLERS-DANLOS SYNDROME, TYPE VI" 2182 225410 "EHLERS-DANLOS SYNDROME, TYPE VII, AUTOSOMAL RECESSIVE" 2183 225450 "ELLIPTOCYTOSIS, ATYPICAL" 2184 225500 ELLIS-VAN CREVELD SYNDROME; EVC 2185 225700 "ENCEPHALOMALACIA, MULTILOCULAR" 2186 225740 "ENCEPHALOPATHY, AXONAL, WITH NECROTIZING MYOPATHY, CARDIOMYOPATHY, AND CATARACTS" 2187 225750 AICARDI-GOUTIERES SYNDROME 1; AGS1 2188 225753 "ENCEPHALOPATHY, FATAL INFANTILE, WITH OLIVOPONTOCEREBELLAR HYPOPLASIA" 2189 225755 "ENCEPHALOPATHY WITH INTRACRANIAL CALCIFICATION, GROWTH HORMONE DEFICIENCY, MICROCEPHALY, AND RETINAL DEGENERATION" 2190 225790 ENCEPHALOCLASTIC PROLIFERATIVE VASCULOPATHY; EPV 2191 226000 ENDOCARDIAL FIBROELASTOSIS; EFE 2192 226100 ENDOCARDIAL FIBROELASTOSIS AND COARCTATION OF ABDOMINAL AORTA 2193 226110 "ENDOTHELIAL DYSTROPHY, CONGENITAL HEREDITARY, WITH NAIL HYPOPLASIA" 2194 226150 ENTEROCOLITIS 2195 226200 ENTEROKINASE DEFICIENCY 2196 226350 EOSINOPHILIC FASCIITIS 2197 226400 EPIDERMODYSPLASIA VERRUCIFORMIS; EV 2198 226440 "EPIDERMOLYSIS BULLOSA, LATE-ONSET LOCALIZED JUNCTIONAL, WITH MENTAL RETARDATION" 2199 226450 EPIDERMOLYSIS BULLOSA INVERSA DYSTROPHICA 2200 226500 EPIDERMOLYSIS BULLOSA DYSTROPHICA NEUROTROPHICA 2201 226600 "EPIDERMOLYSIS BULLOSA DYSTROPHICA, HALLOPEAU-SIEMENS TYPE; EBR1" 2202 226650 "EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN; GABEB" 2203 226670 EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY 2204 226700 EPIDERMOLYSIS BULLOSA LETALIS 2205 226730 EPIDERMOLYSIS BULLOSA WITH PYLORIC ATRESIA 2206 226735 EPIDERMOLYSIS BULLOSA WITH DIAPHRAGMATIC HERNIA 2207 226750 KOHLSCHUTTER-TONZ SYNDROME 2208 226800 "EPILEPSY, PHOTOGENIC, WITH SPASTIC DIPLEGIA AND MENTAL RETARDATION" 2209 226810 EPILEPSY WITH BILATERAL OCCIPITAL CALCIFICATIONS 2210 226850 EPILEPSY-TELANGIECTASIA 2211 226900 "EPIPHYSEAL DYSPLASIA, MULTIPLE, 4; EDM4" 2212 226950 "EPIPHYSEAL DYSPLASIA OF FEMORAL HEAD, MYOPIA, AND DEAFNESS" 2213 226960 "EPIPHYSEAL DYSPLASIA, MICROCEPHALY, AND NYSTAGMUS" 2214 226980 "EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS" 2215 226985 "EPITHELIAL SQUAMOUS DYSPLASIA, KERATINIZING DESQUAMATIVE, OF URINARY TRACT" 2216 226990 "EPSTEIN-BARR VIRUS, SUSCEPTIBILITY TO CHRONIC INFECTION BY" 2217 227000 ERYTHEMA OF ACRAL REGIONS 2218 227010 ERMINE PHENOTYPE 2219 227050 TRANSIENT ERYTHROBLASTOPENIA OF CHILDHOOD 2220 227090 "ERYTHRODERMA, LETHAL CONGENITAL" 2221 227100 MOVED TO 120900 2222 227150 ETHANOLAMINOSIS 2223 227200 "EUNUCHOIDISM, FAMILIAL HYPOGONADOTROPIC" 2224 227210 "EYEBROWS, DUPLICATION OF, WITH STRETCHABLE SKIN AND SYNDACTYLY" 2225 227220 "SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 1; SHEP1" 2226 227240 "SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 5; SHEP5" 2227 227250 "FACIAL ABNORMALITIES, KYPHOSCOLIOSIS, AND MENTAL RETARDATION" 2228 227255 FACIAL DYSMORPHISM WITH MULTIPLE MALFORMATIONS 2229 227260 FACIAL ECTODERMAL DYSPLASIA 2230 227270 "FACIOCARDIOMELIC DYSPLASIA, LETHAL" 2231 227280 FACIOCARDIORENAL SYNDROME 2232 227290 MOVED TO 222448 2233 227300 "FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF; F5F8D" 2234 227320 FACIOTHORACOGENITAL SYNDROME 2235 227330 "FACIODIGITOGENITAL SYNDROME, RECESSIVE" 2236 227400 FACTOR V DEFICIENCY 2237 227500 FACTOR VII DEFICIENCY 2238 227600 FACTOR X DEFICIENCY 2239 227650 FANCONI ANEMIA; FA 2240 227810 FANCONI-BICKEL SYNDROME; FBS 2241 227850 FANCONI-LIKE SYNDROME 2242 228000 FARBER LIPOGRANULOMATOSIS 2243 228020 "FASCIAL DYSTROPHY, CONGENITAL" 2244 228100 FATTY METAMORPHOSIS OF VISCERA 2245 228200 FEMUR-FIBULA-ULNA SYNDROME 2246 228250 "FEMUR, UNILATERAL BIFID, WITH MONODACTYLOUS ECTRODACTYLY" 2247 228300 FERTILE EUNUCH SYNDROME 2248 228355 FETAL IODINE DEFICIENCY DISORDER; FIDD 2249 228400 "FEVER, FAMILIAL LIFELONG PERSISTENT" 2250 228520 FIBROCHONDROGENESIS 2251 228560 "FIBROMATOSIS, GINGIVAL, WITH DISTINCTIVE FACIES" 2252 228600 "FIBROMATOSIS, JUVENILE HYALINE" 2253 228800 "FIBROSCLEROSIS, MULTIFOCAL" 2254 228900 FIBULAR HYPOPLASIA AND COMPLEX BRACHYDACTYLY 2255 228930 "FIBULAR APLASIA OR HYPOPLASIA, FEMORAL BOWING AND POLY-, SYN-, AND OLIGODACTYLY" 2256 228940 FIBULOULNAR APLASIA OR HYPOPLASIA WITH RENAL ABNORMALITIES 2257 228960 FLAUJEAC FACTOR DEFICIENCY 2258 228980 "FLECK RETINA, FAMILIAL BENIGN" 2259 228990 FLECK RETINA OF KANDORI 2260 229000 PREKALLIKREIN DEFICIENCY 2261 229045 "FOCAL EPITHELIAL HYPERPLASIA, ORAL" 2262 229050 "FOLIC ACID, TRANSPORT DEFECT INVOLVING" 2263 229070 "FOLLICLE-STIMULATING HORMONE DEFICIENCY, ISOLATED" 2264 229100 FORMIMINOTRANSFERASE DEFICIENCY 2265 229120 FOUNTAIN SYNDROME 2266 229200 "EHLERS-DANLOS SYNDROME, TYPE VIB" 2267 229250 "FREESIA FLOWERS, INABILITY TO SMELL" 2268 229300 FRIEDREICH ATAXIA 1; FRDA 2269 229310 FRIEDREICH ATAXIA AND CONGENITAL GLAUCOMA 2270 229400 FRONTOFACIONASAL DYSOSTOSIS 2271 229500 FRUCTOSE AND GALACTOSE INTOLERANCE 2272 229600 "FRUCTOSE INTOLERANCE, HEREDITARY" 2273 229800 FRUCTOSURIA 2274 229850 FRYNS SYNDROME; FRNS 2275 229900 MOVED TO 258870 2276 230000 FUCOSIDOSIS 2277 230200 GALACTOKINASE DEFICIENCY 2278 230300 GALACTORRHEA 2279 230350 GALACTOSE EPIMERASE DEFICIENCY 2280 230400 GALACTOSEMIA 2281 230430 MOVED TO 300622 2282 230450 "GAMMA-GLUTAMYLCYSTEINE SYNTHETASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO" 2283 230500 "GM1-GANGLIOSIDOSIS, TYPE I" 2284 230600 "GM1-GANGLIOSIDOSIS, TYPE II" 2285 230650 "GM1-GANGLIOSIDOSIS, TYPE III" 2286 230700 "GANGLIOSIDOSIS, GM2, TYPE III, OR JUVENILE TYPE" 2287 230710 "GANGLIOSIDOSIS, GM2, JUVENILE, A(M)B VARIANT" 2288 230740 GAPO SYNDROME 2289 230750 "GASTROSCHISIS ABDOMINAL WALL DEFECTS, INCLUDED" 2290 230800 "GAUCHER DISEASE, TYPE I" 2291 230900 "GAUCHER DISEASE, TYPE II" 2292 231000 "GAUCHER DISEASE, TYPE III" 2293 231005 "GAUCHER DISEASE, TYPE IIIC" 2294 231050 GELEOPHYSIC DYSPLASIA 2295 231060 GENITOPALATOCARDIAC SYNDROME 2296 231070 GERODERMA OSTEODYSPLASTICA; GO 2297 231080 GERMAN SYNDROME 2298 231090 HYDATIDIFORM MOLE 2299 231095 GHOSAL HEMATODIAPHYSEAL DYSPLASIA; GHDD 2300 231100 "HEMOCHROMATOSIS, NEONATAL" 2301 231200 GIANT PLATELET SYNDROME 2302 231300 "GLAUCOMA 3, PRIMARY CONGENITAL, A; GLC3A" 2303 231520 MOVED TO 273750 2304 231530 3-@HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY 2305 231550 ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME; AAA 2306 231630 GLUTAMATE MONOSODIUM SENSITIVITY 2307 231670 GLUTARIC ACIDEMIA I 2308 231680 MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY; MADD 2309 231690 GLUTARYL-CoA OXIDASE DEFICIENCY 2310 231900 "GLUTATHIONE SYNTHETASE DEFICIENCY OF ERYTHROCYTES, HEMOLYTIC ANEMIA DUE TO" 2311 231950 GLUTATHIONURIA 2312 231970 "GLUTEAL MUSCLES, ABSENCE OF" 2313 232220 GLYCOGEN STORAGE DISEASE Ib 2314 232240 GLYCOGEN STORAGE DISEASE Ic 2315 232300 GLYCOGEN STORAGE DISEASE II 2316 232500 GLYCOGEN STORAGE DISEASE IV 2317 232700 GLYCOGEN STORAGE DISEASE VI 2318 233100 RENAL GLUCOSURIA; GLYS1 2319 233270 GOMBO SYNDROME 2320 233300 OVARIAN DYSGENESIS 1; ODG1 2321 233400 "GONADAL DYSGENESIS, XX TYPE, WITH DEAFNESS" 2322 233420 "GONADAL DYSGENESIS, XY TYPE" 2323 233430 "GONADAL DYSGENESIS, XY TYPE, WITH ASSOCIATED ANOMALIES" 2324 233450 GOODPASTURE SYNDROME 2325 233500 GORLIN-CHAUDHRY-MOSS SYNDROME 2326 233600 GRANULOCYTOPENIA WITH IMMUNOGLOBULIN ABNORMALITY 2327 233800 GROUPED PIGMENTATION OF THE MACULA 2328 233810 "GROWTH RETARDATION, SMALL AND PUFFY HANDS AND FEET, AND ECZEMA" 2329 233910 GTP CYCLOHYDROLASE I DEFICIENCY 2330 234000 FACTOR XII DEFICIENCY 2331 234030 HAIR DEFECT WITH PHOTOSENSITIVITY AND MENTAL RETARDATION 2332 234050 "TRICHOTHIODYSTROPHY, NONPHOTOSENSITIVE 1; TTDN1" 2333 234100 HALLERMANN-STREIFF SYNDROME; HSS 2334 234200 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1; NBIA1 2335 234250 HALL-RIGGS MENTAL RETARDATION SYNDROME 2336 234280 HALLUX VARUS AND PREAXIAL POLYSYNDACTYLY 2337 234300 HALO NEVI 2338 234350 HALOTHANE HEPATITIS 2339 234500 HARTNUP DISORDER 2340 234580 "HEARING LOSS, SENSORINEURAL, WITH ENAMEL HYPOPLASIA AND NAIL DEFECTS" 2341 234700 "HEART BLOCK, CONGENITAL" 2342 234800 "HEMANGIOMATOSIS, CUTANEOUS, WITH ASSOCIATED FEATURES" 2343 234810 "HEMANGIOMATOSIS, FAMILIAL PULMONARY CAPILLARY" 2344 234820 "HEMANGIOPERICYTOMA, MALIGNANT" 2345 235000 "HEMIHYPERPLASIA, ISOLATED; IH" 2346 235200 HEMOCHROMATOSIS; HFE 2347 235255 "MULLERIAN DERIVATIVES, PERSISTENCE OF, WITH LYMPHANGIECTASIA AND POSTAXIAL POLYDACTYLY" 2348 235360 "HEMOLYTIC ANEMIA, CONGENITAL, WITH EMPHYSEMA AND CUTIS LAXA" 2349 235370 HEMOLYTIC ANEMIA WITH THERMAL SENSITIVITY OF RED CELLS 2350 235400 "HEMOLYTIC UREMIC SYNDROME, ATYPICAL; aHUS HEMOLYTIC UREMIC SYNDROME, TYPICAL, INCLUDED" 2351 235500 "HEMOSIDEROSIS, PULMONARY, WITH DEFICIENCY OF GAMMA-A GLOBULIN" 2352 235510 HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2353 235550 HEPATIC VENOOCCLUSIVE DISEASE WITH IMMUNODEFICIENCY; VODI 2354 235555 "BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2" 2355 235600 "HERMAPHRODITISM, TRUE" 2356 235700 HEXOKINASE DEFICIENCY HEMOLYTIC ANEMIA 2357 235730 MOWAT-WILSON SYNDROME 2358 235800 HISTIDINEMIA 2359 235830 HISTIDINURIA DUE TO A RENAL TUBULAR DEFECT 2360 235900 "HISTIOCYTOSIS, FAMILIAL LIPOCHROME" 2361 236000 HODGKIN LYMPHOMA 2362 236100 HOLOPROSENCEPHALY 2363 236110 HOLZGREVE SYNDROME 2364 236130 HOMOCARNOSINOSIS 2365 236200 HOMOCYSTINURIA 2366 236250 "HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY" 2367 236270 "HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA DUE TO DEFECT IN COBALAMIN METABOLISM, cblE COMPLEMENTATION TYPE" 2368 236400 HUMERORADIAL SYNOSTOSIS HUMERORADIAL/MULTIPLE SYNOSTOSIS SYNDROME; INCLUDED 2369 236410 HUMERORADIAL SYNOSTOSIS WITH CRANIOFACIAL ANOMALIES 2370 236450 HUTTERITE CEREBROOSTEONEPHRODYSPLASIA SYNDROME 2371 236490 "HYALINOSIS, INFANTILE SYSTEMIC" 2372 236500 HYDRANENCEPHALY WITH RENAL APLASIA-DYSPLASIA 2373 236600 HYDROCEPHALUS 2374 236635 HYDROCEPHALUS DUE TO CONGENITAL STENOSIS OF AQUEDUCT OF SYLVIUS 2375 236640 HYDROCEPHALUS WITH ASSOCIATED MALFORMATIONS 2376 236660 "HYDROCEPHALUS, TALL STATURE, JOINT LAXITY, AND KYPHOSCOLIOSIS" 2377 236670 WALKER-WARBURG SYNDROME 2378 236680 HYDROLETHALUS SYNDROME 1 2379 236690 "HYDROCEPHALUS, NORMAL-PRESSURE" 2380 236700 MCKUSICK-KAUFMAN SYNDROME; MKKS 2381 236730 UROFACIAL SYNDROME; UFS 2382 236750 "HYDROPS FETALIS, IDIOPATHIC" 2383 236792 L-2-HYDROXYGLUTARIC ACIDURIA 2384 236795 3-@HYDROXYISOBUTYRIC ACIDURIA 2385 236800 HYDROXYKYNURENINURIA 2386 236900 HYDROXYLYSINURIA 2387 237000 HYDROXYPROLINEMIA 2388 237100 "HYMEN, IMPERFORATE" 2389 237300 "CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY, HYPERAMMONEMIA DUE TO" 2390 237310 N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY 2391 237400 HYPER-BETA-ALANINEMIA 2392 237450 "HYPERBILIRUBINEMIA, ROTOR TYPE" 2393 237500 DUBIN-JOHNSON SYNDROME; DJS 2394 237550 "HYPERBILIRUBINEMIA, CONJUGATED, TYPE III" 2395 237800 "HYPERBILIRUBINEMIA, SHUNT" 2396 237900 "HYPERBILIRUBINEMIA, TRANSIENT FAMILIAL NEONATAL BREASTFEEDING JAUNDICE, INCLUDED" 2397 238200 MOVED TO 220100 2398 238320 HYPERGONADOTROPIC HYPOGONADISM; HHG 2399 238340 HYPERLEUCINE-ISOLEUCINEMIA 2400 238350 HYPERLEXIA 2401 238400 MOVED TO 144650 2402 238500 MOVED TO 144650 2403 238600 "HYPERLIPOPROTEINEMIA, TYPE I" 2404 238700 HYPERLYSINEMIA 2405 238710 HYPERLYSINEMIA DUE TO DEFECT IN LYSINE TRANSPORT INTO MITOCHONDRIA 2406 238750 HYPERLYSINURIA WITH HYPERAMMONEMIA 2407 238800 HYPERMETABOLISM DUE TO DEFECT IN MITOCHONDRIA 2408 238950 "HYPEROPIA, HIGH" 2409 238970 HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA SYNDROME 2410 239000 "PAGET DISEASE, JUVENILE" 2411 239100 HYPEROSTOSIS CORTICALIS GENERALISATA 2412 239199 "HYPERPARATHYROIDISM, NEONATAL SELF-LIMITED PRIMARY, WITH HYPERCALCIURIA" 2413 239200 "HYPERPARATHYROIDISM, NEONATAL SEVERE PRIMARY; NSHPT" 2414 239300 HYPERPHOSPHATASIA WITH MENTAL RETARDATION 2415 239350 "HYPERPHOSPHATEMIA, POLYURIA, AND SEIZURES" 2416 239400 HYPERPIPECOLATEMIA 2417 239500 "HYPERPROLINEMIA, TYPE I" 2418 239510 "HYPERPROLINEMIA, TYPE II" 2419 239710 "ACROFRONTOFACIONASAL DYSOSTOSIS, SEVERE" 2420 239711 HYPERTELORISM AND TETRALOGY OF FALLOT 2421 239800 "HYPERTELORISM, MICROTIA, FACIAL CLEFTING SYNDROME" 2422 239840 "HYPERTRICHOSIS, CONGENITAL ANTERIOR CERVICAL, WITH PERIPHERAL SENSORY AND MOTOR NEUROPATHY" 2423 239850 HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA 2424 239900 HYPERTROPHIC NEUROPATHY AND CATARACT 2425 240150 "HYPERVITAMINOSIS A, SUSCEPTIBILITY TO" 2426 240200 "HYPOADRENOCORTICISM, FAMILIAL" 2427 240300 "AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I; APS1" 2428 240400 HYPOASCORBEMIA 2429 240500 COMMON VARIABLE IMMUNODEFICIENCY; CVID 2430 240600 "GLYCOGEN STORAGE DISEASE 0, LIVER" 2431 240800 "HYPOGLYCEMIA, LEUCINE-INDUCED; LIH" 2432 240900 "HYPOGLYCEMIA, NEONATAL, SIMULATING FOETOPATHIA DIABETICA" 2433 240950 HYPOGONADISM-CATARACT SYNDROME 2434 241000 HYPOGONADISM WITH LOW-GRADE MENTAL DEFICIENCY AND MICROCEPHALY 2435 241080 "HYPOGONADISM, ALOPECIA, DIABETES MELLITUS, MENTAL RETARDATION, AND EXTRAPYRAMIDAL SYNDROME" 2436 241090 "HYPOGONADISM, PRIMARY, AND PARTIAL ALOPECIA" 2437 241100 "HYPOGONADISM, MALE" 2438 241120 HYPOHIDROSIS WITH ABNORMAL PALMAR DERMAL RIDGES 2439 241150 "HYPOKALEMIA, FAMILIAL" 2440 241200 "BARTTER SYNDROME, ANTENATAL, TYPE 2" 2441 241310 HYPOMANDIBULAR FACIOCRANIAL DYSOSTOSIS 2442 241410 HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME; HRD 2443 241500 "HYPOPHOSPHATASIA, INFANTILE" 2444 241510 "HYPOPHOSPHATASIA, CHILDHOOD" 2445 241519 "HYPOPHOSPHATEMIA, RENAL, WITH INTRACEREBRAL CALCIFICATIONS" 2446 241520 "HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL RECESSIVE" 2447 241530 "HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, HEREDITARY; HHRH" 2448 241540 "HYPOPITUITARISM, CONGENITAL, WITH CENTRAL DIABETES INSIPIDUS" 2449 241550 HYPOPLASTIC LEFT HEART SYNDROME 2450 241600 "HYPOPROTEINEMIA, HYPERCATABOLIC" 2451 241760 HYPOSPADIAS-MENTAL RETARDATION SYNDROME 2452 241800 "HYPOTHALAMIC HAMARTOMAS CONGENITAL HYPOTHALAMIC HAMARTOMA SYNDROME, INCLUDED; CHHS, INCLUDED" 2453 241850 "HYPOTHYROIDISM, ATHYROIDAL, WITH SPIKY HAIR AND CLEFT PALATE" 2454 242100 "ICHTHYOSIFORM ERYTHRODERMA, CONGENITAL, NONBULLOUS, 1; NCIE1" 2455 242150 "ICHTHYOSIFORM ERYTHRODERMA, CORNEAL INVOLVEMENT, AND DEAFNESS" 2456 242300 "ICHTHYOSIS, LAMELLAR, 1; LI1" 2457 242500 "ICHTHYOSIS CONGENITA, HARLEQUIN FETUS TYPE" 2458 242510 "ICHTHYOSIS WITH ALOPECIA, ECLABION, ECTROPION, AND MENTAL RETARDATION" 2459 242520 "ICHTHYOSIS, HEPATOSPLENOMEGALY, AND CEREBELLAR DEGENERATION" 2460 242530 "ICHTHYOSIS, MENTAL RETARDATION, DWARFISM, AND RENAL IMPAIRMENT" 2461 242550 "ICHTHYOSIS, SPLIT HAIRS, AND AMINO ACIDURIA" 2462 242600 IMINOGLYCINURIA 2463 242650 PRIMARY CILIARY DYSKINESIA; PCD 2464 242670 IMMOTILE CILIA SYNDROME DUE TO DEFECTIVE RADIAL SPOKES 2465 242680 IMMOTILE CILIA SYNDROME DUE TO EXCESSIVELY LONG CILIA 2466 242700 IMMUNE DEFECT DUE TO ABSENCE OF THYMUS 2467 242840 "IMMUNODEFICIENCY WITH CLEFT LIP/PALATE, CATARACT, HYPOPIGMENTATION, AND ABSENT CORPUS CALLOSUM" 2468 242850 IMMUNE DEFICIENCY DISEASE 2469 242860 IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 2470 242880 IMMUNOERYTHROMYELOID HYPOPLASIA 2471 242890 "IMMUNOGLOBULIN D LEVEL IN PLASMA, LOW" 2472 242900 "IMMUNOOSSEOUS DYSPLASIA, SCHIMKE TYPE" 2473 243000 "INDIFFERENCE TO PAIN, CONGENITAL, AUTOSOMAL RECESSIVE" 2474 243050 INDOLYLACROYL GLYCINURIA WITH MENTAL RETARDATION 2475 243060 "MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA" 2476 243080 "INOSINE PHOSPHORYLASE DEFICIENCY, IMMUNE DEFECT DUE TO" 2477 243100 "INTERNAL CAROTID ARTERIES, HYPOPLASIA OF" 2478 243110 "INTERLEUKIN 1, DEFECTIVE T-CELL RESPONSE TO" 2479 243150 "INTESTINAL ATRESIA, MULTIPLE" 2480 243185 INTESTINAL PSEUDOOBSTRUCTION WITH PATENT DUCTUS ARTERIOSUS AND NATAL TEETH 2481 243200 "INTRACRANIAL HYPERTENSION, IDIOPATHIC" 2482 243300 "CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC 1; BRIC1" 2483 243310 "IRIS COLOBOMA WITH PTOSIS, HYPERTELORISM, AND MENTAL RETARDATION" 2484 243320 "INTRINSIC FACTOR AND R BINDER, COMBINED CONGENITAL DEFICIENCY OF" 2485 243340 MOVED TO 242860 2486 243400 ISONIAZID INACTIVATION 2487 243440 ISOTRETINOIN EMBRYOPATHY-LIKE SYNDROME 2488 243450 "ISOVALERIC ACID, INABILITY TO SMELL" 2489 243500 ISOVALERIC ACIDEMIA; IVA 2490 243600 JEJUNAL ATRESIA 2491 243605 JEJUNAL ATRESIA WITH MICROCEPHALY AND OCULAR ANOMALIES 2492 243700 "HYPERIMMUNOGLOBULIN E-RECURRENT INFECTION SYNDROME, AUTOSOMAL RECESSIVE" 2493 243800 JOHANSON-BLIZZARD SYNDROME; JBS 2494 243910 ARIMA SYNDROME 2495 244100 JUMPING FRENCHMAN OF MAINE 2496 244200 KALLMANN SYNDROME 3; KAL3 2497 244300 KAPUR-TORIELLO SYNDROME 2498 244400 KARTAGENER SYNDROME 2499 244450 KAUFMAN OCULOCEREBROFACIAL SYNDROME 2500 244460 "KENNY-CAFFEY SYNDROME, TYPE 1; KCS" 2501 244510 KERATOCONUS AND CONGENITAL HIP DYSPLASIA 2502 244600 "KERATOCONUS POSTICUS CIRCUMSCRIPTUS; KPC KPC WITH ASSOCIATED MALFORMATIONS, INCLUDED" 2503 244850 "KERATODERMA, PALMOPLANTAR, NORRBOTTEN RECESSIVE TYPE" 2504 245000 PAPILLON-LEFEVRE SYNDROME; PALS 2505 245010 HAIM-MUNK SYNDROME; HMS 2506 245100 KETOACIDURIA WITH MENTAL DEFICIENCY AND OTHER FEATURES 2507 245130 KETOADIPICACIDURIA 2508 245150 KEUTEL SYNDROME 2509 245160 KNIEST-LIKE DYSPLASIA WITH PURSED LIPS AND ECTOPIA LENTIS 2510 245180 KIFAFA SEIZURE DISORDER 2511 245190 "KNIEST-LIKE DYSPLASIA, LETHAL" 2512 245200 KRABBE DISEASE 2513 245300 "KURU, SUSCEPTIBILITY TO" 2514 245340 ERYTHROCYTE LACTATE TRANSPORTER DEFECT 2515 245400 "LACTIC ACIDOSIS, FATAL INFANTILE" 2516 245450 LACTIC ACIDURIA DUE TO D-LACTIC ACID 2517 245480 SPECIFIC GRANULE DEFICIENCY; SGD 2518 245550 LAMBERT SYNDROME 2519 245552 LAMBOTTE SYNDROME 2520 245570 LANDAU-KLEFFNER SYNDROME; LKS 2521 245590 GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY 2522 245600 "LARSEN SYNDROME, RECESSIVE" 2523 245650 "LARSEN-LIKE SYNDROME, LETHAL TYPE" 2524 245660 LARYNGOONYCHOCUTANEOUS SYNDROME; LOCS 2525 245800 LAURENCE-MOON SYNDROME 2526 245900 LECITHIN:CHOLESTEROL ACYLTRANSFERASE DEFICIENCY 2527 246000 "LEG, ABSENCE DEFORMITY OF, WITH CONGENITAL CATARACT" 2528 246200 DONOHUE SYNDROME 2529 246300 "LEPROSY, SUSCEPTIBILITY TO LEPROSY, SUSCEPTIBILITY TO, 3, INCLUDED; LPRS3, INCLUDED" 2530 246400 LETTERER-SIWE DISEASE 2531 246450 3-@HYDROXY-3-METHYLGLUTARYL-CoA LYASE DEFICIENCY 2532 246470 "LEUKEMIA, ACUTE MYELOCYTIC, WITH POLYPOSIS COLI AND COLON CANCER" 2533 246500 "LEUKOMELANODERMA, INFANTILISM, MENTAL RETARDATION, HYPODONTIA, HYPOTRICHOSIS" 2534 246550 LICHTENSTEIN SYNDROME 2535 246555 "LIMB DEFECTS, DISTAL TRANSVERSE, WITH MENTAL RETARDATION AND SPASTICITY" 2536 246560 "LIMB DEFICIENCIES, DISTAL, WITH MICROGNATHIA" 2537 246570 "FIBULAR APLASIA, TIBIAL CAMPOMELIA, AND OLIGOSYNDACTYLY SYNDROME" 2538 246650 "LIPASE DEFICIENCY, COMBINED" 2539 246900 MOVED TO 238331 2540 247100 LIPOID PROTEINOSIS OF URBACH AND WIETHE 2541 247150 LIP PRINTS 2542 247200 MILLER-DIEKER LISSENCEPHALY SYNDROME; MDLS 2543 247410 LYMPHEDEMA-HYPOPARATHYROIDISM SYNDROME 2544 247420 LUTHERAN NULL 2545 247430 "LYMPHOBLASTIC TRANSFORMATION, INHIBITION OF" 2546 247440 "LYMPHEDEMA, CONGENITAL RECESSIVE" 2547 247450 "LYMPHOBLASTIC TRANSFORMATION, INTRINSIC DEFECT IN" 2548 247610 LYMPHOID INTERSTITIAL PNEUMONIA; LIP 2549 247630 "LYMPHOID SYSTEM DETERIORATION, PROGRESSIVE" 2550 247640 "LYMPHOBLASTIC LEUKEMIA, ACUTE, WITH LYMPHOMATOUS FEATURES; LALL" 2551 247650 LYMPHOKINE DEFICIENCY 2552 247800 "LYMPHOPENIC HYPERGAMMAGLOBULINEMIA, ANTIBODY DEFICIENCY, AUTOIMMUNE HEMOLYTIC ANEMIA, AND GLOMERULONEPHRITIS" 2553 247950 LYSINE MALABSORPTION SYNDROME 2554 247990 MACDERMOT-WINTER SYNDROME 2555 248000 MACROCEPHALY 2556 248010 "MACROEPIPHYSEAL DYSPLASIA WITH OSTEOPOROSIS, WRINKLED SKIN, AND AGED APPEARANCE" 2557 248100 MACROSOMIA ADIPOSA CONGENITA 2558 248110 "MACROSOMIA WITH MICROPHTHALMIA, LETHAL" 2559 248190 "HYPOMAGNESEMIA, RENAL, WITH OCULAR INVOLVEMENT" 2560 248200 STARGARDT DISEASE 1; STGD1 2561 248250 "HYPOMAGNESEMIA 3, RENAL; HOMG3" 2562 248260 "MAGNESIUM, ELEVATED RED CELL" 2563 248300 MAL DE MELEDA 2564 248310 PLASMODIUM FALCIPARUM BLOOD INFECTION LEVEL 2565 248340 MALPUECH FACIAL CLEFTING SYNDROME 2566 248350 MALOCCLUSION AND SHORT STATURE 2567 248360 MALONYL-CoA DECARBOXYLASE DEFICIENCY 2568 248370 MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY; MADA 2569 248390 "MANDIBULOFACIAL DYSOSTOSIS, TREACHER COLLINS TYPE, AUTOSOMAL RECESSIVE" 2570 248400 MANDIBULOFACIAL DYSOSTOSIS WITH MENTAL DEFICIENCY 2571 248450 MANITOBA OCULOTRICHOANAL SYNDROME; MOTA 2572 248600 MAPLE SYRUP URINE DISEASE 2573 248700 MARDEN-WALKER SYNDROME 2574 248760 MARFANOID HABITUS WITH MICROCEPHALY AND GLOMERULONEPHRITIS 2575 248770 "MARFANOID MENTAL RETARDATION SYNDROME, AUTOSOMAL" 2576 248800 MARINESCO-SJOGREN SYNDROME; MSS 2577 248810 MOVED TO 248800 2578 248900 MAST SYNDROME 2579 248910 "MASTOCYTOSIS, CUTANEOUS, WITH SHORT STATURE, CONDUCTIVE HEARING LOSS AND MICROTIA" 2580 248950 MCDONOUGH SYNDROME 2581 249000 "MECKEL SYNDROME, TYPE 1; MKS1" 2582 249100 FAMILIAL MEDITERRANEAN FEVER; FMF 2583 249210 MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 2584 249230 MEGAEPIPHYSEAL DWARFISM 2585 249240 MEGALENCEPHALY WITH DYSMYELINATION 2586 249270 THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME; TRMA 2587 249300 MEGALOCORNEA 2588 249310 MEGALOCORNEA-MENTAL RETARDATION SYNDROME 2589 249400 "MELANOSIS, NEUROCUTANEOUS" 2590 249420 FRANK-TER HAAR SYNDROME 2591 249500 "MENTAL RETARDATION, AUTOSOMAL RECESSIVE 1; MRT1" 2592 249599 "MENTAL RETARDATION SYNDROME, BELGIAN TYPE" 2593 249600 "MENTAL RETARDATION SYNDROME, MIETENS-WEBER TYPE" 2594 249620 "MENTAL RETARDATION, CONGENITAL HEART DISEASE, BLEPHAROPHIMOSIS, BLEPHAROPTOSIS, AND HYPOPLASTIC TEETH" 2595 249630 "MENTAL RETARDATION, BUENOS AIRES TYPE" 2596 249650 MERCAPTOLACTATE-CYSTEINE DISULFIDURIA; MCDU 2597 249660 "MESANGIAL SCLEROSIS, DIFFUSE RENAL, WITH OCULAR ABNORMALITIES" 2598 249670 MESOAXIAL HEXADACTYLY AND CARDIAC MALFORMATION 2599 249700 LANGER MESOMELIC DYSPLASIA 2600 249710 MESOMELIC LIMB SHORTENING AND BOWING 2601 249900 METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY 2602 250100 METACHROMATIC LEUKODYSTROPHY 2603 250215 METAPHYSEAL ACROSCYPHODYSPLASIA 2604 250220 "SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE" 2605 250230 "METAPHYSEAL CHONDRODYSPLASIA, KAITILA TYPE" 2606 250250 CARTILAGE-HAIR HYPOPLASIA; CHH 2607 250300 "METAPHYSEAL CHONDRODYSPLASIA, PENA TYPE" 2608 250400 "METAPHYSEAL CHONDRODYSPLASIA, SPAHR TYPE" 2609 250410 METAPHYSEAL CHONDRODYSPLASIA WITH RETINITIS PIGMENTOSA 2610 250420 "METAPHYSEAL DYSOSTOSIS, MENTAL RETARDATION, AND CONDUCTIVE DEAFNESS" 2611 250450 "METAPHYSEAL DYSPLASIA, ANETODERMA, AND OPTIC ATROPHY" 2612 250460 METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS 2613 250500 "METAPHYSEAL MODELING ABNORMALITY, SKIN LESIONS, AND SPASTIC PARAPLEGIA" 2614 250600 METATROPIC DWARFISM 2615 250620 "BETA-HYDROXYISOBUTYRYL CoA DEACYLASE, DEFICIENCY OF" 2616 250650 METHANE PRODUCTION 2617 250700 METHEMOGLOBIN REDUCTASE DEFICIENCY 2618 250790 METHEMOGLOBINEMIA DUE TO DEFICIENCY OF CYTOCHROME b5 2619 250800 METHEMOGLOBINEMIA DUE TO DEFICIENCY OF METHEMOGLOBIN REDUCTASE 2620 250850 METHIONINE ADENOSYLTRANSFERASE DEFICIENCY 2621 250900 METHIONINE MALABSORPTION SYNDROME 2622 250940 "METHYLCOBALAMIN DEFICIENCY, cblG TYPE" 2623 250950 "3-@METHYLGLUTACONIC ACIDURIA, TYPE I" 2624 250951 "3-@METHYLGLUTACONIC ACIDURIA, TYPE IV" 2625 251000 METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY 2626 251100 "METHYLMALONIC ACIDURIA, cblA TYPE" 2627 251110 "METHYLMALONIC ACIDURIA, cblB TYPE" 2628 251120 METHYLMALONYL-CoA EPIMERASE DEFICIENCY 2629 251190 "MICROCEPHALIC PRIMORDIAL DWARFISM, TORIELLO TYPE" 2630 251200 "MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 1; MCPH1" 2631 251220 MICROCEPHALY-CARDIOMYOPATHY 2632 251230 MICROCEPHALY-MICROMELIA SYNDROME 2633 251240 MICROCEPHALY WITH CHEMOTACTIC DEFECT AND TRANSIENT HYPOGAMMAGLOBULINEMIA 2634 251250 MICROCEPHALY WITH CERVICAL SPINE FUSION ANOMALIES 2635 251255 MICROCEPHALY WITH DIGITAL ANOMALIES 2636 251260 NIJMEGEN BREAKAGE SYNDROME 2637 251270 "MICROCEPHALY WITH CHORIORETINOPATHY, AUTOSOMAL RECESSIVE CHORIORETINAL DYSPLASIA-MICROCEPHALY-MENTAL RETARDATION SYNDROME," 2638 251280 MICROCEPHALY WITH SPASTIC QUADRIPLEGIA 2639 251290 MOVED TO 225750 2640 251300 "MICROCEPHALY, HIATUS HERNIA, AND NEPHROTIC SYNDROME" 2641 251400 MICROCOLON 2642 251450 DESBUQUOIS SYNDROME; DBQD 2643 251455 "MICROMELIC DYSPLASIA, CONGENITAL, WITH DISLOCATION OF RADIUS" 2644 251500 MOVED TO 600118 2645 251505 "MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 4; MCOPCB4" 2646 251600 "MICROPHTHALMIA, ISOLATED 1; MCOP1" 2647 251700 "MICROPHTHALMIA WITH HYPEROPIA, RETINAL DEGENERATION, MACROPHAKIA, AND DENTAL ANOMALIES" 2648 251800 MICROTIA WITH MEATAL ATRESIA AND CONDUCTIVE DEAFNESS 2649 251880 "MITOCHONDRIAL DNA DEPLETION SYNDROME, HEPATOCEREBRAL FORM" 2650 251900 MITOCHONDRIAL MYOPATHY 2651 251950 MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS 2652 252010 MITOCHONDRIAL COMPLEX I DEFICIENCY 2653 252011 MITOCHONDRIAL COMPLEX II DEFICIENCY 2654 252030 REMOVED FROM DATABASE 2655 252100 MOHR SYNDROME 2656 252150 MOLYBDENUM COFACTOR DEFICIENCY 2657 252200 MONILETHRIX 2658 252250 MONOCYTE CHEMOTACTIC DISORDER 2659 252270 MONOSOMY 7 OF BONE MARROW 2660 252300 "MORQUIO SYNDROME, NONKERATOSULFATE-EXCRETING TYPE" 2661 252320 "MOTOR NEUROPATHY, PERIPHERAL, WITH DYSAUTONOMIA" 2662 252350 MOYAMOYA DISEASE 1; MYMY1 2663 252500 MUCOLIPIDOSIS II ALPHA/BETA 2664 252600 MUCOLIPIDOSIS III ALPHA/BETA 2665 252605 MUCOLIPIDOSIS III GAMMA 2666 252650 MUCOLIPIDOSIS IV 2667 252700 "MUCOPOLYSACCHARIDOSES, UNCLASSIFIED TYPES" 2668 252900 MUCOPOLYSACCHARIDOSIS TYPE IIIA 2669 252920 MUCOPOLYSACCHARIDOSIS TYPE IIIB 2670 252930 MUCOPOLYSACCHARIDOSIS TYPE IIIC 2671 252940 MUCOPOLYSACCHARIDOSIS TYPE IIID 2672 253000 MUCOPOLYSACCHARIDOSIS TYPE IVA 2673 253010 MORQUIO SYNDROME B 2674 253200 MUCOPOLYSACCHARIDOSIS TYPE VI 2675 253220 MUCOPOLYSACCHARIDOSIS TYPE VII 2676 253230 MUCOPOLYSACCHARIDOSIS TYPE VIII 2677 253240 MUCUS INSPISSATION OF RESPIRATORY TRACT 2678 253250 MULIBREY NANISM 2679 253270 HOLOCARBOXYLASE SYNTHETASE DEFICIENCY 2680 253280 MUSCLE-EYE-BRAIN DISEASE; MEB 2681 253290 "MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE" 2682 253300 "SPINAL MUSCULAR ATROPHY, TYPE I; SMA1" 2683 253310 LETHAL CONGENITAL CONTRACTURE SYNDROME 1; LCCS1 2684 253320 "MULTICORE MYOPATHY WITH MENTAL RETARDATION, SHORT STATURE, AND HYPOGONADOTROPIC HYPOGONADISM" 2685 253400 "SPINAL MUSCULAR ATROPHY, TYPE III; SMA3" 2686 253550 "SPINAL MUSCULAR ATROPHY, TYPE II; SMA2" 2687 253590 "MUSCULAR DYSTROPHY, ADULT-ONSET, WITH LEUKOENCEPHALOPATHY" 2688 253600 "MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A; LGMD2A" 2689 253601 "MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B; LGMD2B" 2690 253700 "MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C; LGMD2C" 2691 253800 FUKUYAMA CONGENITAL MUSCULAR DYSTROPHY; FCMD 2692 253900 "MUSCULAR DYSTROPHY, CONGENITAL, PRODUCING ARTHROGRYPOSIS" 2693 254000 "MUSCULAR DYSTROPHY, CONGENITAL, WITH INFANTILE CATARACT AND HYPOGONADISM" 2694 254090 ULLRICH CONGENITAL MUSCULAR DYSTROPHY; UCMD 2695 254100 "MUSCULAR DYSTROPHY, CONGENITAL, WITH RAPID PROGRESSION" 2696 254110 "MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2H; LGMD2H" 2697 254120 "MUSCULAR HYPERTONIA, LETHAL" 2698 254130 MIYOSHI MYOPATHY; MM 2699 254150 "MUSK, INABILITY TO SMELL" 2700 254200 MYASTHENIA GRAVIS; MG 2701 254210 "MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA" 2702 254300 "MYASTHENIA, LIMB-GIRDLE, FAMILIAL" 2703 254400 MYCOSIS FUNGOIDES 2704 254450 "MYELOFIBROSIS MYELOFIBROSIS WITH MYELOID METAPLASIA, INCLUDED; MMM, INCLUDED" 2705 254500 "MYELOMA, MULTIPLE AMYLOIDOSIS, PRIMARY, INCLUDED; AL, INCLUDED" 2706 254600 MYELOPEROXIDASE DEFICIENCY 2707 254770 "MYOCLONIC EPILEPSY, JUVENILE, 1; EJM1" 2708 254780 MYOCLONIC EPILEPSY OF LAFORA 2709 254800 MYOCLONIC EPILEPSY OF UNVERRICHT AND LUNDBORG 2710 254900 ACTION MYOCLONUS-RENAL FAILURE SYNDROME; AMRF 2711 254940 "MYOPATHY, CONGENITAL NONPROGRESSIVE, WITH MOEBIUS SEQUENCE AND ROBIN SEQUENCE" 2712 254950 "MYOPATHY, GRANULOVACUOLAR LOBULAR, WITH ELECTRICAL MYOTONIA" 2713 254960 MYOPATHY DUE TO MALATE-ASPARTATE SHUTTLE DEFECT 2714 255100 MYOPATHY WITH ABNORMAL LIPID METABOLISM 2715 255110 "CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET" 2716 255120 CARNITINE PALMITOYLTRANSFERASE I DEFICIENCY 2717 255125 MYOPATHY WITH DEFICIENCY OF SUCCINATE DEHYDROGENASE AND ACONITASE 2718 255140 MYOPATHY WITH GIANT ABNORMAL MITOCHONDRIA 2719 255160 "MYOPATHY, HYALINE BODY, AUTOSOMAL RECESSIVE" 2720 255200 "MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE" 2721 255300 "MYOPATHY, CONGENITAL" 2722 255310 "MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION; CFTD" 2723 255320 MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA 2724 255500 "MYOPIA, INFANTILE SEVERE" 2725 255600 "MYOSCLEROSIS, CONGENITAL, OF LOWENTHAL" 2726 255700 "MYOTONIA CONGENITA, AUTOSOMAL RECESSIVE" 2727 255710 MYOTONIA WITH SKELETAL ABNORMALITIES AND MENTAL RETARDATION 2728 255800 "SCHWARTZ-JAMPEL SYNDROME, TYPE 1; SJS1" 2729 255900 MYXEDEMA 2730 255960 "MYXOMA, INTRACARDIAC" 2731 255980 NASODIGITOACOUSTIC SYNDROME 2732 255990 NATHALIE SYNDROME 2733 255995 NATIVE AMERICAN MYOPATHY 2734 256000 LEIGH SYNDROME; LS 2735 256030 NEMALINE MYOPATHY 2; NEM2 2736 256040 NAKAJO SYNDROME 2737 256050 "ATELOSTEOGENESIS, TYPE II; AOII" 2738 256100 NEPHRONOPHTHISIS 1; NPHP1 2739 256120 "NEPHROPATHY, DEAFNESS, AND HYPERPARATHYROIDISM" 2740 256150 NEPHROSIALIDOSIS 2741 256200 NEPHROSIS WITH DEAFNESS AND URINARY TRACT AND DIGITAL MALFORMATIONS 2742 256300 "NEPHROSIS 1, CONGENITAL, FINNISH TYPE; NPHS1" 2743 256350 MOVED TO 600995 2744 256370 "NEPHROTIC SYNDROME, EARLY-ONSET, WITH DIFFUSE MESANGIAL SCLEROSIS" 2745 256450 "HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1; HHF1" 2746 256500 NETHERTON SYNDROME; NETH 2747 256520 NEU-LAXOVA SYNDROME; NLS 2748 256550 NEURAMINIDASE DEFICIENCY 2749 256600 "NEUROAXONAL DYSTROPHY, INFANTILE; INAD1" 2750 256690 NEUROFACIODIGITORENAL SYNDROME 2751 256700 NEUROBLASTOMA 2752 256710 ELEJALDE DISEASE 2753 256730 "CEROID LIPOFUSCINOSIS, NEURONAL, 1; CLN1" 2754 256731 "CEROID LIPOFUSCINOSIS, NEURONAL, 5; CLN5" 2755 256800 "INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS; CIPA" 2756 256810 NAVAJO NEUROHEPATOPATHY; NN 2757 256840 "NEUROPATHY, HEREDITARY SENSORY, WITH SPASTIC PARAPLEGIA, AUTOSOMAL RECESSIVE" 2758 256850 GIANT AXONAL NEUROPATHY 1; GAN1 2759 256851 MOVED TO 256850 2760 256855 "NEUROPATHY, HEREDITARY MOTOR AND SENSORY, WITH EXCESSIVE MYELIN FOLDING COMPLEX, AUTOSOMAL RECESSIVE" 2761 256860 "NEUROPATHY, HEREDITARY SENSORY, ATYPICAL" 2762 256870 "NEUROPATHY, PAINFUL" 2763 257100 "NEUTROPENIA, LETHAL CONGENITAL, WITH EOSINOPHILIA" 2764 257150 NEUTROPHIL ACTIN DYSFUNCTION; NAD 2765 257200 "NIEMANN-PICK DISEASE, TYPE A" 2766 257220 "NIEMANN-PICK DISEASE, TYPE C1; NPC1" 2767 257270 "NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B; CSNB1B" 2768 257300 MOSAIC VARIEGATED ANEUPLOIDY SYNDROME; MVA 2769 257320 LISSENCEPHALY 2; LIS2 2770 257350 "NUCHAL BLEB, FAMILIAL" 2771 257500 OBESITY-HYPOVENTILATION SYNDROME 2772 257550 OCULAR MOTOR APRAXIA 2773 257600 OCULAR MYOPATHY WITH CURARE SENSITIVITY 2774 257790 OCULOCEREBRAL HYPOPIGMENTATION SYNDROME OF PREUS 2775 257800 OCULOCEREBRAL SYNDROME WITH HYPOPIGMENTATION 2776 257850 "OCULODENTOOSSEOUS DYSPLASIA, RECESSIVE" 2777 257910 OCULOPALATOCEREBRAL SYNDROME 2778 257920 OCULOPALATOSKELETAL SYNDROME 2779 257950 MOVED TO 164300 2780 257960 OCULOTRICHODYSPLASIA; OTD 2781 257970 OCULORENOCEREBELLAR SYNDROME 2782 257980 ODONTOONYCHODERMAL DYSPLASIA; OODD 2783 258040 OEIS COMPLEX 2784 258100 OGUCHI DISEASE 2785 258150 OLIGOSYNAPTIC INFERTILITY 2786 258200 OLIVER SYNDROME 2787 258300 "OLIVOPONTOCEREBELLAR ATROPHY II, AUTOSOMAL RECESSIVE" 2788 258315 "OMODYSPLASIA, GENERALIZED FORM" 2789 258320 "OMPHALOCELE-CLEFT PALATE SYNDROME, LETHAL" 2790 258360 ONYCHOTRICHODYSPLASIA AND NEUTROPENIA 2791 258400 OPHTHALMOPLEGIA TOTALIS WITH PTOSIS AND MIOSIS 2792 258450 "PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE" 2793 258470 OPHTHALMOPLEGIC NEUROMUSCULAR DISORDER WITH ABNORMAL MITOCHONDRIA 2794 258480 OPSISMODYSPLASIA 2795 258500 OPTIC ATROPHY 6; OPA6 2796 258501 "3-@METHYLGLUTACONIC ACIDURIA, TYPE III" 2797 258650 "OPTIC ATROPHY, HEARING LOSS, AND PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE" 2798 258660 "NONARTERITIC ANTERIOR ISCHEMIC OPTIC NEUROPATHY, SUSCEPTIBILITY TO" 2799 258700 OPTICOCOCHLEODENTATE DEGENERATION 2800 258800 "ORAL SENSIBILITY, DISTURBANCE OF" 2801 258840 ORAL AND DIGITAL ANOMALIES WITH ICHTHYOSIS 2802 258850 OROFACIODIGITAL SYNDROME III; OFD3 2803 258860 OROFACIODIGITAL SYNDROME IV; OFD4 2804 258865 OROFACIODIGITAL SYNDROME IX; OFD9 2805 258870 ORNITHINE AMINOTRANSFERASE DEFICIENCY 2806 258900 OROTIC ACIDURIA I 2807 258920 OROTIC ACIDURIA II 2808 259050 "OSSIFIED EAR CARTILAGES WITH MENTAL DEFICIENCY, MUSCLE WASTING, AND BONY CHANGES" 2809 259100 "OSTEOARTHROPATHY, FAMILIAL IDIOPATHIC, OF CHILDHOOD" 2810 259200 "OSTEOCHONDROSIS DEFORMANS TIBIAE, FAMILIAL INFANTILE TYPE" 2811 259250 "OSTEODYSPLASIA, FAMILIAL, ANDERSON TYPE" 2812 259270 "OSTEODYSPLASTY, PRECOCIOUS, OF DANKS, MAYNE, AND KOZLOWSKI" 2813 259410 "OSTEOGENESIS IMPERFECTA CONGENITA, MICROCEPHALY, AND CATARACTS" 2814 259420 "OSTEOGENESIS IMPERFECTA, TYPE III" 2815 259440 "OSTEOGENESIS IMPERFECTA, SILLENCE TYPE II/III, WITHOUT ABNORMALITY OF TYPE I COLLAGEN" 2816 259450 BRUCK SYNDROME 1 2817 259500 OSTEOGENIC SARCOMA 2818 259550 OSTEOID OSTEOMA 2819 259600 "OSTEOLYSIS, HEREDITARY MULTICENTRIC" 2820 259610 "OSTEOLYSIS SYNDROME, RECESSIVE" 2821 259650 OSTEOMA OF MIDDLE EAR 2822 259660 "OSTEOMALACIA, SCLEROSING, WITH CEREBRAL CALCIFICATION" 2823 259680 CHRONIC RECURRENT MULTIFOCAL OSTEOMYELITIS; CRMO 2824 259690 OSTEOPENIA AND SPARSE HAIR 2825 259700 "OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1; OPTB1" 2826 259710 "OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2; OPTB2" 2827 259720 "OSTEOPETROSIS, AUTOSOMAL RECESSIVE 5; OPTB5" 2828 259730 "OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3; OPTB3" 2829 259750 "OSTEOPOROSIS, JUVENILE" 2830 259770 OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME; OPPG 2831 259775 RAINE SYNDROME; RNS 2832 259780 OTOONYCHOPERONEAL SYNDROME 2833 259900 "HYPEROXALURIA, PRIMARY, TYPE I" 2834 260000 "HYPEROXALURIA, PRIMARY, TYPE II" 2835 260005 5-@OXOPROLINASE DEFICIENCY 2836 260130 "PACHYONYCHIA CONGENITA, RECESSIVE" 2837 260150 PALANT CLEFT PALATE SYNDROME 2838 260200 "PALLIDAL DEGENERATION, PROGRESSIVE, WITH RETINITIS PIGMENTOSA" 2839 260300 PALLIDOPYRAMIDAL SYNDROME 2840 260350 PANCREATIC CARCINOMA 2841 260370 "PANCREATIC AGENESIS, CONGENITAL" 2842 260400 SHWACHMAN-DIAMOND SYNDROME; SDS 2843 260450 "PANCREATIC INSUFFICIENCY, COMBINED EXOCRINE" 2844 260470 "PANENCEPHALITIS, SUBACUTE SCLEROSING" 2845 260480 "PANCREATITIS, SCLEROSING CHOLANGITIS, AND SICCA COMPLEX" 2846 260500 PAPILLOMA OF CHOROID PLEXUS 2847 260530 PARANA HARD-SKIN SYNDROME 2848 260540 PARKINSON-DEMENTIA SYNDROME 2849 260555 PARTINGTON-ANDERSON SYNDROME 2850 260565 PEHO SYNDROME 2851 260570 PELGER-HUET-LIKE ANOMALY AND EPISODIC FEVER WITH ABDOMINAL PAIN 2852 260600 "PELIZAEUS-MERZBACHER-LIKE DISEASE, AUTOSOMAL RECESSIVE, 2" 2853 260650 PELLAGRA-LIKE SYNDROME 2854 260660 PELVISCAPULAR DYSPLASIA 2855 260800 PENTOSURIA 2856 260900 "PERICARDIAL EFFUSION, CHRONIC" 2857 260910 "PERIFOLLICULITIS CAPITIS ABSCEDENS ET SUFFODIENS, FAMILIAL" 2858 260920 HYPER-IgD SYNDROME; HIDS 2859 260950 "PERIODONTITIS, CHRONIC" 2860 260970 "PERIPHERAL NEUROPATHY, ATAXIA, FOCAL NECROTIZING ENCEPHALOPATHY, AND SPONGY DEGENERATION OF BRAIN" 2861 261000 INTRINSIC FACTOR DEFICIENCY; IFD 2862 261100 MEGALOBLASTIC ANEMIA 1 2863 261400 "PERONEUS TERTIUS MUSCLE, ABSENCE OF" 2864 261500 PEROXIDASE AND PHOSPHOLIPID DEFICIENCY IN EOSINOPHILS 2865 261515 D-BIFUNCTIONAL PROTEIN DEFICIENCY 2866 261540 PETERS-PLUS SYNDROME 2867 261550 "PERSISTENT MULLERIAN DUCT SYNDROME, TYPES I AND II; PMDS" 2868 261560 PFEIFFER-PALM-TELLER SYNDROME 2869 261575 PHAVER SYNDROME 2870 261590 PHENFORMIN 4-HYDROXYLATION 2871 261600 PHENYLKETONURIA 2872 261630 PHENYLKETONURIA II 2873 261670 "PHOSPHOGLYCERATE MUTASE, MUSCLE, DEFICIENCY OF" 2874 261740 "GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL" 2875 261750 "PHOSPHORYLASE KINASE DEFICIENCY OF LIVER AND MUSCLE, AUTOSOMAL RECESSIVE" 2876 261800 PIERRE ROBIN SYNDROME 2877 261900 PILI TORTI 2878 261990 PILI TORTI AND DEVELOPMENTAL DELAY 2879 262000 BJORNSTAD SYNDROME; BJS 2880 262020 PILODENTAL DYSPLASIA WITH REFRACTIVE ERRORS 2881 262190 "PINEAL HYPERPLASIA, INSULIN-RESISTANT DIABETES MELLITUS, AND SOMATIC ABNORMALITIES" 2882 262300 ACHROMATOPSIA 3; ACHM3 2883 262350 PITT SYNDROME 2884 262400 PITUITARY DWARFISM I 2885 262500 GROWTH HORMONE INSENSITIVITY SYNDROME 2886 262600 PITUITARY DWARFISM III 2887 262650 PITUITARY DWARFISM IV 2888 262700 PITUITARY DWARFISM WITH SMALL SELLA TURCICA 2889 262710 PITUITARY DWARFISM WITH LARGE SELLA TURCICA 2890 262800 "PLASMA CLOT RETRACTION FACTOR, DEFICIENCY OF" 2891 262850 PLASMIN INHIBITOR DEFICIENCY 2892 262900 PLEOCONIAL MYOPATHY WITH SALT CRAVING 2893 263000 "INTERSTITIAL PNEUMONITIS, DESQUAMATIVE, FAMILIAL; DIP" 2894 263100 "POLYCYSTIC KIDNEY, CATARACT, AND CONGENITAL BLINDNESS" 2895 263200 "POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE; ARPKD" 2896 263210 "POLYCYSTIC KIDNEY DISEASE, POTTER TYPE I, WITH MICROBRACHYCEPHALY, HYPERTELORISM, AND BRACHYMELIA" 2897 263300 POLYCYTHEMIA VERA 2898 263400 "ERYTHROCYTOSIS, FAMILIAL, 2" 2899 263450 "POLYDACTYLY, POSTAXIAL" 2900 263510 "SHORT RIB-POLYDACTYLY SYNDROME, TYPE III" 2901 263520 "SHORT RIB-POLYDACTYLY SYNDROME, TYPE II" 2902 263530 "SHORT RIB-POLYDACTYLY SYNDROME, TYPE I" 2903 263540 "POLYDACTYLY, POSTAXIAL, WITH DENTAL AND VERTEBRAL ANOMALIES" 2904 263550 "POLYMYOCLONUS, INFANTILE" 2905 263560 "POLYNEUROPATHY, MIXED, OF EARLY ONSET" 2906 263570 "POLYGLUCOSAN BODY DISEASE, ADULT FORM; APBD" 2907 263610 "POLYHYDRAMNIOS, CHRONIC IDIOPATHIC" 2908 263630 POLYSYNDACTYLY WITH CARDIAC MALFORMATION 2909 263650 "POPLITEAL PTERYGIUM SYNDROME, LETHAL TYPE" 2910 263700 "PORPHYRIA, CONGENITAL ERYTHROPOIETIC" 2911 263750 POSTAXIAL ACROFACIAL DYSOSTOSIS; POADS 2912 263800 GITELMAN SYNDROME 2913 264010 "PRADER-WILLI HABITUS, OSTEOPENIA, AND CAMPTODACTYLY" 2914 264050 PRENATAL BOWING 2915 264060 PREPAPILLARY VASCULAR LOOPS 2916 264070 HYPERPHENYLALANINEMIA WITH PRIMAPTERINURIA 2917 264080 PROGESTERONE RESISTANCE 2918 264090 "PROGEROID SYNDROME, NEONATAL" 2919 264110 "PROLACTIN DEFICIENCY, ISOLATED" 2920 264120 PROLACTIN DEFICIENCY WITH OBESITY AND ENLARGED TESTES 2921 264140 "PRUNE BELLY SYNDROME WITH PULMONIC STENOSIS, MENTAL RETARDATION, AND DEAFNESS" 2922 264150 MOVED TO 177170 2923 264180 PSEUDODIASTROPHIC DYSPLASIA 2924 264270 "PSEUDOHERMAPHRODITISM, FEMALE, WITH SKELETAL ANOMALIES" 2925 264300 17-@BETA HYDROXYSTEROID DEHYDROGENASE III DEFICIENCY 2926 264350 "PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL RECESSIVE; PHA1" 2927 264420 "FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, RECESSIVE FORM" 2928 264470 PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY 2929 264475 "PSEUDOPAPILLEDEMA, OCULAR HYPOTELORISM, BLEPHAROPHIMOSIS, AND HAND ANOMALIES" 2930 264480 PSEUDOTRISOMY 13 SYNDROME 2931 264500 PSEUDOURIDINURIA AND MENTAL DEFECT 2932 264600 PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS; PPSH 2933 264700 "VITAMIN D-DEPENDENT RICKETS, TYPE I" 2934 264800 PSEUDOXANTHOMA ELASTICUM; PXE 2935 264810 REMOVED FROM DATABASE 2936 264900 PTA DEFICIENCY 2937 265000 "MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT" 2938 265050 CARNEVALE SYNDROME 2939 265100 PULMONARY ALVEOLAR MICROLITHIASIS 2940 265120 "SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 1; SMDP1" 2941 265140 PULMONARY ARTERIOVENOUS FISTULAS 2942 265150 PULMONARY ATRESIA WITH INTACT VENTRICULAR SEPTUM 2943 265200 PULMONARY BULLAE CAUSING PNEUMOTHORAX 2944 265300 "LYMPHANGIECTASIA, PULMONARY, CONGENITAL; CPL" 2945 265380 "PULMONARY HYPERTENSION, FAMILIAL PERSISTENT, OF THE NEWBORN" 2946 265400 "PULMONARY HYPERTENSION, PRIMARY, AUTOSOMAL RECESSIVE" 2947 265430 "PULMONARY HYPOPLASIA, PRIMARY" 2948 265500 PULMONIC STENOSIS 2949 265600 PULMONIC STENOSIS AND CONGENITAL NEPHROSIS 2950 265800 PYCNODYSOSTOSIS 2951 265850 PYGMY 2952 265880 PYKNOACHONDROGENESIS 2953 265900 PYLE DISEASE 2954 265950 PYLORIC ATRESIA 2955 266100 "EPILEPSY, PYRIDOXINE-DEPENDENT; EPD" 2956 266120 "URIDINE 5-PRIME MONOPHOSPHATE HYDROLASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO" 2957 266130 GLUTATHIONE SYNTHETASE DEFICIENCY 2958 266140 "PYROPOIKILOCYTOSIS, HEREDITARY; HPP" 2959 266150 PYRUVATE CARBOXYLASE DEFICIENCY 2960 266200 PYRUVATE KINASE DEFICIENCY OF RED CELLS 2961 266250 "RADICULONEUROPATHY, FATAL NEONATAL" 2962 266255 "RADIOULNAR SYNOSTOSIS, UNILATERAL, WITH DEVELOPMENTAL RETARDATION AND HYPOTONIA" 2963 266265 "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIc; CDG2C" 2964 266270 RAMON SYNDROME 2965 266280 RAPADILINO SYNDROME 2966 266300 "SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2; SHEP2" 2967 266350 RED SKIN PIGMENT ANOMALY OF NEW GUINEA 2968 266400 REESE RETINAL DYSPLASIA 2969 266500 REFSUM DISEASE 2970 266510 "REFSUM DISEASE, INFANTILE FORM" 2971 266600 INFLAMMATORY BOWEL DISEASE 1; IBD1 2972 266810 RENAL AND MULLERIAN DUCT HYPOPLASIA 2973 266900 SENIOR-LOKEN SYNDROME 1; SLSN1 2974 266910 RENAL DYSPLASIA-LIMB DEFECTS SYNDROME 2975 266920 "RENAL DYSPLASIA, RETINAL PIGMENTARY DYSTROPHY, CEREBELLAR ATAXIA, AND SKELETAL DYSPLASIA" 2976 267000 "RENAL HAMARTOMAS, NEPHROBLASTOMATOSIS, AND FETAL GIGANTISM" 2977 267010 RENAL-HEPATIC-PANCREATIC DYSPLASIA WITH DANDY-WALKER CYST 2978 267200 RENAL TUBULAR ACIDOSIS III 2979 267300 "RENAL TUBULAR ACIDOSIS, DISTAL, WITH PROGRESSIVE NERVE DEAFNESS" 2980 267400 "RENAL, GENITAL, AND MIDDLE EAR ANOMALIES" 2981 267430 RENAL TUBULAR DYSGENESIS; RTD 2982 267450 RESPIRATORY DISTRESS SYNDROME IN PREMATURE INFANTS 2983 267480 RESPIRATORY UNDERRESPONSIVENESS TO HYPOXIA AND HYPERCAPNIA 2984 267500 RETICULAR DYSGENESIA 2985 267700 "HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 1" 2986 267730 RETICULUM CELL SARCOMA 2987 267740 RETINAL DEGENERATION AND EPILEPSY 2988 267750 KNOBLOCH SYNDROME; KNO 2989 267760 "RETINAL DEGENERATION WITH NANOPHTHALMOS, CYSTIC MACULAR DEGENERATION, AND ANGLE CLOSURE GLAUCOMA" 2990 267800 "RETINAL DYSTROPHY, RETICULAR PIGMENTARY, OF POSTERIOR POLE" 2991 267900 RETINAL TELANGIECTASIA AND HYPOGAMMAGLOBULINEMIA 2992 268000 RETINITIS PIGMENTOSA; RP 2993 268010 RETINITIS PIGMENTOSA INVERSA WITH DEAFNESS 2994 268020 "RETINITIS PIGMENTOSA, DEAFNESS, MENTAL RETARDATION, AND HYPOGONADISM" 2995 268025 "RETINITIS PIGMENTOSA, LATE-ADULT ONSET" 2996 268040 RETINOHEPATOENDOCRINOLOGIC SYNDROME 2997 268050 "RETINOPATHY, PIGMENTARY, AND MENTAL RETARDATION" 2998 268060 "RETINOPATHY, PERICENTRAL PIGMENTARY, AUTOSOMAL RECESSIVE" 2999 268080 RETINOSCHISIS OF FOVEA 3000 268100 ENHANCED S-CONE SYNDROME; ESCS 3001 268130 REVESZ SYNDROME 3002 268150 "RH-NULL, REGULATOR TYPE; RHN" 3003 268200 "RHABDOMYOLYSIS, ACUTE RECURRENT" 3004 268210 RHABDOMYOSARCOMA 1; RMS1 3005 268220 RHABDOMYOSARCOMA 2; RMS2 3006 268250 RHIZOMELIC SYNDROME 3007 268300 ROBERTS SYNDROME; RBS 3008 268305 ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES 3009 268310 "ROBINOW SYNDROME, AUTOSOMAL RECESSIVE" 3010 268315 "ROD-CONE DYSTROPHY, SENSORINEURAL DEAFNESS, AND FANCONI-TYPE RENAL DYSFUNCTION" 3011 268320 RODRIGUES BLINDNESS 3012 268400 ROTHMUND-THOMSON SYNDROME; RTS 3013 268500 ROWLEY-ROSENBERG SYNDROME 3014 268650 RUDIGER SYNDROME 3015 268670 MOVED TO 270400 3016 268700 SACCHAROPINURIA 3017 268800 SANDHOFF DISEASE 3018 268850 SAO PAULO MCA/MR SYNDROME 3019 268900 SARCOSINEMIA 3020 268950 MOVED TO 254110 3021 269000 SC PHOCOMELIA SYNDROME 3022 269150 SCHINZEL-GIEDION MIDFACE-RETRACTION SYNDROME 3023 269160 SCHIZENCEPHALY 3024 269200 "AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE II; APS2" 3025 269250 SCHNECKENBECKEN DYSPLASIA 3026 269300 SCHWARTZ-LELEK SYNDROME 3027 269400 SCLEROCORNEA 3028 269500 SCLEROSTEOSIS; SOST 3029 269600 SEA-BLUE HISTIOCYTE DISEASE 3030 269630 SECOND METATARSAL-METACARPAL SYNDROME 3031 269650 SECRETORY COMPONENT DEFICIENCY 3032 269700 "LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2; CGL2" 3033 269720 "EPILEPSY, BENIGN NEONATAL, AUTOSOMAL RECESSIVE" 3034 269800 SENILE PLAQUE FORMATION 3035 269840 "SEVERE COMBINED IMMUNODEFICIENCY, ATYPICAL" 3036 269860 "SHORT RIB-POLYDACTYLY SYNDROME, TYPE IV" 3037 269870 SHORT STATURE-OBESITY SYNDROME; SSOS 3038 269880 SHORT SYNDROME 3039 269920 INFANTILE SIALIC ACID STORAGE DISORDER 3040 269921 SIALURIA 3041 269950 "SIDEROBLASTIC ANEMIA, AUTOSOMAL" 3042 270100 SITUS INVERSUS VISCERUM 3043 270150 SJOGREN SYNDROME 3044 270200 SJOGREN-LARSSON SYNDROME; SLS 3045 270220 SJOGREN-LARSSON-LIKE ICHTHYOSIS WITHOUT CNS OR EYE INVOLVEMENT 3046 270230 MOVED TO 187600 3047 270300 PEELING SKIN SYNDROME 3048 270350 "SKUNK N-BUTYLMERCAPTAN, INABILITY TO SMELL" 3049 270400 SMITH-LEMLI-OPITZ SYNDROME; SLOS 3050 270420 "DIARRHEA 3, SECRETORY SODIUM, CONGENITAL" 3051 270425 SODIUM-POTASSIUM-ATPase ACTIVITY OF RED CELL 3052 270450 "INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO" 3053 270460 SONODA SYNDROME 3054 270500 SPASTIC ATAXIA 3055 270550 "SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE; SACS" 3056 270600 "SPASTIC DIPLEGIA, INFANTILE TYPE" 3057 270685 SPASTIC PARAPLEGIA 17; SPG17 3058 270700 "SPASTIC PARAPLEGIA 15, AUTOSOMAL RECESSIVE; SPG15" 3059 270710 FITZSIMMONS-GUILBERT SYNDROME 3060 270750 SPASTIC PARAPLEGIA 23; SPG23 3061 270800 "SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE; SPG5A" 3062 270805 SPASTIC PARAPLEGIA WITH MYOCLONIC EPILEPSY 3063 270850 "SPASTIC PARESIS, GLAUCOMA, AND MENTAL RETARDATION" 3064 270900 SPASTIC PSEUDOSCLEROSIS 3065 270950 "SPASTIC QUADRIPLEGIA, RETINITIS PIGMENTOSA, AND MENTAL RETARDATION" 3066 270960 AZOOSPERMIA DUE TO PERTURBATIONS OF MEIOSIS 3067 270970 "SPHEROCYTOSIS, AUTOSOMAL RECESSIVE" 3068 271100 MOVED TO 153400 3069 271109 SPINAL MUSCULAR ATROPHY WITH MENTAL RETARDATION 3070 271110 SPINAL MUSCULAR ATROPHY WITH MICROCEPHALY AND MENTAL SUBNORMALITY 3071 271150 "SPINAL MUSCULAR ATROPHY, TYPE IV; SMA4" 3072 271200 "SPINAL MUSCULAR ATROPHY, RYUKYUAN TYPE" 3073 271220 "SPINAL MUSCULAR ATROPHY, SCAPULOPERONEAL" 3074 271225 "SPINAL MUSCULAR ATROPHY, TYPE I, WITH CONGENITAL BONE FRACTURES" 3075 271245 INFANTILE-ONSET SPINOCEREBELLAR ATAXIA; IOSCA 3076 271250 "SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 3; SCAR3" 3077 271270 SPINOCEREBELLAR ATAXIA WITH DYSMORPHISM 3078 271310 SPINOCEREBELLAR DEGENERATION AND CORNEAL DYSTROPHY 3079 271320 "SPINOCEREBELLAR DEGENERATION WITH MACULAR CORNEAL DYSTROPHY, CONGENITAL CATARACTS, AND MYOPIA" 3080 271322 SPINOCEREBELLAR DEGENERATION WITH SLOW EYE MOVEMENTS; SDSEM 3081 271400 SPLENIC HYPOPLASIA 3082 271500 SPLENOPORTAL VASCULAR ANOMALIES 3083 271510 "SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SPONASTRIME TYPE" 3084 271520 SPONDYLOCOSTAL DYSOSTOSIS WITH ANAL ATRESIA AND UROGENITAL ANOMALIES 3085 271530 SPONDYLODYSPLASIA WITH PURE BRACHYOLMIA 3086 271550 SPONDYLOENCHONDRODYSPLASIA 3087 271600 "SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, AUTOSOMAL RECESSIVE" 3088 271620 SPONDYLOEPIPHYSEAL DYSPLASIA TARDA WITH MENTAL RETARDATION 3089 271630 "SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, TOLEDO TYPE" 3090 271640 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY; SEMDJL 3091 271650 "SPONDYLOEPIMETAPHYSEAL DYSPLASIA, IRAPA TYPE; SEMDIT" 3092 271665 "SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE" 3093 271700 SPONDYLOPERIPHERAL DYSPLASIA 3094 271900 CANAVAN DISEASE 3095 271930 "STRIATONIGRAL DEGENERATION, INFANTILE; SNDI" 3096 271950 "SUBAORTIC STENOSIS, MEMBRANOUS" 3097 271960 SUBAORTIC STENOSIS--SHORT STATURE SYNDROME 3098 272000 "SUCROSURIA, HIATUS HERNIA AND MENTAL RETARDATION" 3099 272100 SUDANOPHILIC CEREBRAL SCLEROSIS 3100 272120 SUDDEN INFANT DEATH SYNDROME 3101 272150 SUGARMAN BRACHYDACTYLY 3102 272200 MULTIPLE SULFATASE DEFICIENCY; MSD 3103 272300 SULFOCYSTEINURIA 3104 272350 SUMMITT SYNDROME 3105 272370 SUSCEPTIBILITY TO LYSIS BY ALLOREACTIVE NATURAL KILLER CELLS; EC1 3106 272430 COLD-INDUCED SWEATING SYNDROME 1; CISS1 3107 272440 "SYNDACTYLY, TYPE I, WITH MICROCEPHALY AND MENTAL RETARDATION" 3108 272450 SYNDESMODYSPLASIC DWARFISM 3109 272460 SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME 3110 272480 MOVED TO 186700 3111 272550 "TACHYCARDIA, HYPERTENSION, MICROPHTHALMIA, AND HYPERGLYCINURIA" 3112 272600 TAPETORETINAL DEGENERATION WITH ATAXIA 3113 272620 TARDIVE DYSKINESIA 3114 272650 TATSUMI FACTOR DEFICIENCY 3115 272700 TAURODONTISM 3116 272750 "TAY-SACHS DISEASE, AB VARIANT" 3117 272800 TAY-SACHS DISEASE; TSD 3118 272950 TEEBI-SHALTOUT SYNDROME 3119 272980 "TEETH, CONGENITAL ABSENCE OF, WITH TAURODONTIA AND SPARSE HAIR" 3120 273000 "TEETH, FUSED" 3121 273050 "TEETH, NONERUPTION OF, WITH MAXILLARY HYPOPLASIA AND GENU VALGUM" 3122 273120 "TERATOMA, PINEAL" 3123 273150 "TESTES, RUDIMENTARY" 3124 273250 TESTICULAR REGRESSION SYNDROME; TRS 3125 273300 TESTICULAR TUMORS 3126 273390 TETRA-AMELIA WITH ECTODERMAL DYSPLASIA AND LACRIMAL DUCT ABNORMALITIES 3127 273395 "TETRA-AMELIA, AUTOSOMAL RECESSIVE" 3128 273400 "TETRAMELIC DEFICIENCIES, ECTODERMAL DYSPLASIA, DEFORMED EARS, AND OTHER ABNORMALITIES" 3129 273490 "THALAMIC DEGENERATION, SYMMETRIC INFANTILE" 3130 273600 THALIDOMIDE SUSCEPTIBILITY 3131 273680 "THANATOPHORIC DYSPLASIA, GLASGOW VARIANT" 3132 273730 THORACIC DYSPLASIA-HYDROCEPHALUS SYNDROME 3133 273740 THORACOMELIC DYSPLASIA 3134 273750 THREE M SYNDROME 3135 273770 THREONINEMIA 3136 273800 THROMBASTHENIA OF GLANZMANN AND NAEGELI 3137 273900 THROMBOCYTOPENIA 3; THC3 3138 274000 THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME 3139 274150 "THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL; TTP" 3140 274190 "THUMB AGENESIS, SHORT STATURE, AND IMMUNODEFICIENCY" 3141 274200 "THUMB, DISTAL HYPEREXTENSIBILITY OF" 3142 274205 "THUMB, HYPOPLASTIC, WITH CHOROID COLOBOMA, POORLY DEVELOPED ANTIHELIX, AND DEAFNESS" 3143 274210 THYMIC APLASIA WITH FETAL DEATH 3144 274230 "THYMOMA, FAMILIAL" 3145 274240 THYROCEREBRORETINAL SYNDROME 3146 274260 MOVED TO 274230 3147 274265 THYMIC-RENAL-ANAL-LUNG DYSPLASIA 3148 274300 "THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL RECESSIVE; GRTH" 3149 274400 "THYROID HORMONOGENESIS, GENETIC DEFECT IN, 1" 3150 274500 "THYROID HORMONOGENESIS, GENETIC DEFECT IN, 2A" 3151 274600 PENDRED SYNDROME; PDS 3152 274800 "THYROID HORMONOGENESIS, GENETIC DEFECT IN, 4" 3153 275000 GRAVES DISEASE 3154 275100 "THYROTROPIN DEFICIENCY, ISOLATED" 3155 275120 THYROTROPIN-RELEASING HORMONE DEFICIENCY 3156 275190 TIGLIC ACIDEMIA 3157 275200 "HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1; CHNG1" 3158 275210 "TIGHT SKIN CONTRACTURE SYNDROME, LETHAL" 3159 275220 TIBIAL HEMIMELIA 3160 275230 "TIBIA, ABSENCE OF, WITH CONGENITAL DEAFNESS" 3161 275240 "TINEA IMBRICATA, SUSCEPTIBILITY TO" 3162 275250 "TONGUE, PIGMENTED FUNGIFORM PAPILLAE OF" 3163 275300 TRACHEOBRONCHOMEGALY 3164 275350 TRANSCOBALAMIN II DEFICIENCY 3165 275370 "TRICARBOXYLIC ACID CYCLE, DEFECT OF" 3166 275400 "TRICHOMEGALY WITH MENTAL RETARDATION, DWARFISM, AND PIGMENTARY DEGENERATION OF RETINA" 3167 275450 TRICHOODONTOONYCHIAL DYSPLASIA 3168 275550 TRICHORRHEXIS NODOSA SYNDROME 3169 275595 "TRIGONOBRACHYCEPHALY, BULBOUS BIFID NOSE, MICROGNATHIA, AND ABNORMALITIES OF THE HANDS AND FEET" 3170 275600 REMOVED FROM DATABASE 3171 275630 CHANARIN-DORFMAN SYNDROME; CDS 3172 275900 "SPASTIC PARAPLEGIA 20, AUTOSOMAL RECESSIVE; SPG20" 3173 276100 TRYPTOPHANURIA WITH DWARFISM 3174 276200 T-SUBSTANCE ANOMALY 3175 276300 MISMATCH REPAIR CANCER SYNDROME 3176 276400 "TWINNING, DIZYGOTIC OVARIAN RESPONSE TO FSH STIMULATION, INCLUDED" 3177 276410 "TWINNING, MONOZYGOTIC" 3178 276500 MOVED TO 276710 3179 276600 TYROSINE TRANSAMINASE DEFICIENCY 3180 276700 "TYROSINEMIA, TYPE I" 3181 276710 "TYROSINEMIA, TYPE III" 3182 276800 TYROSINOSIS 3183 276820 "ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY" 3184 276821 ULNAR HYPOPLASIA WITH MENTAL RETARDATION 3185 276822 ULNAR AGENESIS AND ENDOCARDIAL FIBROELASTOSIS 3186 276880 UROCANASE DEFICIENCY 3187 276900 "USHER SYNDROME, TYPE I" 3188 276901 "USHER SYNDROME, TYPE IIA; USH2A" 3189 276902 "USHER SYNDROME, TYPE III; USH3" 3190 276904 "USHER SYNDROME, TYPE IC; USH1C" 3191 276905 "USHER SYNDROME, TYPE IIB; USH2B" 3192 276950 VACTERL ASSOCIATION WITH HYDROCEPHALUS 3193 277000 ROKITANSKY-KUSTER-HAUSER SYNDROME 3194 277100 VALINEMIA 3195 277150 VAN BOGAERT-HOZAY SYNDROME 3196 277170 VARADI-PAPP SYNDROME 3197 277175 VASCULAR HYALINOSIS 3198 277180 "VAS DEFERENS, CONGENITAL BILATERAL APLASIA OF; CBAVD" 3199 277200 "RIGHT VENTRICULAR HYPOPLASIA, ISOLATED" 3200 277300 "SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 1; SCDO1" 3201 277320 "VISCERAL MYOPATHY, FAMILIAL, WITH EXTERNAL OPHTHALMOPLEGIA" 3202 277350 VITAMIN A METABOLIC DEFECT 3203 277400 "METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE" 3204 277410 "METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblD TYPE" 3205 277420 MOVED TO 277440 3206 277440 "VITAMIN D-DEPENDENT RICKETS, TYPE II" 3207 277450 "VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1" 3208 277460 "VITAMIN E, FAMILIAL ISOLATED DEFICIENCY OF; VED" 3209 277465 "VITILIGO, PROGRESSIVE, WITH MENTAL RETARDATION AND URETHRAL DUPLICATION" 3210 277470 "PONTOCEREBELLAR HYPOPLASIA, TYPE 2" 3211 277480 "VON WILLEBRAND DISEASE, RECESSIVE FORM" 3212 277580 WAARDENBURG-SHAH SYNDROME 3213 277590 WEAVER SYNDROME 3214 277600 "WEILL-MARCHESANI SYNDROME, AUTOSOMAL RECESSIVE" 3215 277610 WEISSENBACHER-ZWEYMULLER SYNDROME; WZS 3216 277700 WERNER SYNDROME; WRN 3217 277720 "WHISTLING FACE SYNDROME, RECESSIVE FORM" 3218 277730 WERNICKE-KORSAKOFF SYNDROME 3219 277740 WHITE FORELOCK WITH MALFORMATIONS 3220 277900 WILSON DISEASE 3221 277950 WINCHESTER SYNDROME 3222 277970 WISKOTT-ALDRICH SYNDROME 3223 277990 WOLFF MENTAL RETARDATION SYNDROME 3224 278000 WOLMAN DISEASE 3225 278150 "WOOLLY HAIR, AUTOSOMAL RECESSIVE" 3226 278200 "WOOLLY HAIR, HYPOTRICHOSIS, EVERTED LOWER LIP, AND OUTSTANDING EARS" 3227 278250 WRINKLY SKIN SYNDROME; WSS 3228 278300 "XANTHINURIA, TYPE I" 3229 278400 "ALBINISM, RUFOUS OCULOCUTANEOUS; ROCA" 3230 278700 "XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A; XPA" 3231 278720 "XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C; XPC" 3232 278730 "XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D; XPD" 3233 278740 "XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E" 3234 278750 "XERODERMA PIGMENTOSUM, VARIANT TYPE; XPV" 3235 278760 "XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F; XPF" 3236 278780 "XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G; XPG" 3237 278800 DE SANCTIS-CACCHIONE SYNDROME 3238 278810 XERODERMA PIGMENTOSUM IX 3239 278850 XX MALE SYNDROME 3240 278900 XYLOSIDASE DEFICIENCY 3241 279000 YOUNG SYNDROME 3242 280000 ZUNICH NEUROECTODERMAL SYNDROME 3243 300000 OPITZ SYNDROME 3244 300001 "ICHTHYOSIS, X-LINKED, WITHOUT STEROID SULFATASE DEFICIENCY" 3245 300004 "CORPUS CALLOSUM, AGENESIS OF, WITH ABNORMAL GENITALIA" 3246 300009 DENT DISEASE 1 3247 300018 DOSAGE-SENSITIVE SEX REVERSAL; DSS 3248 300029 RETINITIS PIGMENTOSA 15; RP15 3249 300030 "DEAFNESS, X-LINKED 3; DFNX3" 3250 300033 "MYELOID/LYMPHOID OR MIXED LINEAGE LEUKEMIA, TRANSLOCATED TO, 7; MLLT7" 3251 300042 "ALOPECIA, CONGENITAL" 3252 300046 "MENTAL RETARDATION, X-LINKED 23; MRX23" 3253 300047 "MENTAL RETARDATION, X-LINKED 20; MRX20" 3254 300048 "INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CHRONIC IDIOPATHIC, X-LINKED" 3255 300049 "HETEROTOPIA, PERIVENTRICULAR, X-LINKED DOMINANT" 3256 300055 "MENTAL RETARDATION, X-LINKED, SYNDROMIC 13; MRXS13" 3257 300062 "MENTAL RETARDATION, X-LINKED 14; MRX14" 3258 300064 "MENTAL RETARDATION, X-LINKED, WITH CRANIOFACIAL DYSMORPHISM" 3259 300066 "DEAFNESS, X-LINKED 4; DFNX4" 3260 300067 "LISSENCEPHALY, X-LINKED, 1; LISX1" 3261 300068 ANDROGEN INSENSITIVITY SYNDROME; AIS 3262 300069 "CARDIOMYOPATHY, DILATED, 3A; CMD3A" 3263 300071 "NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A; CSNB2A" 3264 300073 "FETAL AKINESIA SYNDROME, X-LINKED" 3265 300076 "IMMUNONEUROLOGIC DISORDER, X-LINKED" 3266 300077 "MENTAL RETARDATION, X-LINKED 29; MRX29" 3267 300082 "COGNITIVE FUNCTION 1, SOCIAL; CGF1" 3268 300085 "CONE-ROD DYSTROPHY, X-LINKED, 2; CORDX2" 3269 300087 "X INACTIVATION, FAMILIAL SKEWED, 1; SXI1" 3270 300088 "EPILEPSY, FEMALE RESTRICTED, WITH MENTAL RETARDATION; EFMR" 3271 300100 ADRENOLEUKODYSTROPHY; ALD 3272 300106 "SPONDYLOEPIMETAPHYSEAL DYSPLASIA, X-LINKED" 3273 300114 "MENTAL RETARDATION, X-LINKED 49; MRX49" 3274 300115 "MENTAL RETARDATION, X-LINKED 50; MRX50" 3275 300123 "MENTAL RETARDATION, X-LINKED, WITH ISOLATED GROWTH HORMONE DEFICIENCY; MRGH" 3276 300125 "MIGRAINE, FAMILIAL TYPICAL, SUSCEPTIBILITY TO, 2" 3277 300129 "HEMATOPOIETIC STEM CELL KINETICS, CONTROL OF" 3278 300136 "DIABETES MELLITUS, INSULIN-DEPENDENT, X-LINKED, SUSCEPTIBILITY TO" 3279 300143 "MENTAL RETARDATION, X-LINKED 21; MRX21" 3280 300148 "MENTAL RETARDATION, EPILEPTIC SEIZURES, HYPOGONADISM AND HYPOGENITALISM, MICROCEPHALY, AND OBESITY; MEHMO" 3281 300155 RETINITIS PIGMENTOSA 24; RP24 3282 300158 "ARTHROGRYPOSIS, X-LINKED, TYPE V; AMCX5" 3283 300166 "MICROPHTHALMIA, SYNDROMIC 2; MCOPS2" 3284 300179 "X INACTIVATION, FAMILIAL SKEWED, 2" 3285 300183 "NONCOMPACTION OF LEFT VENTRICULAR MYOCARDIUM, FAMILIAL ISOLATED, X-LINKED; LVNCX" 3286 300184 "HYPOTONIA, CONGENITAL NYSTAGMUS, ATAXIA, AND ABNORMAL AUDITORY BRAINSTEM RESPONSES" 3287 300194 AMME COMPLEX 3288 300195 "ALPORT SYNDROME, MENTAL RETARDATION, MIDFACE HYPOPLASIA, AND ELLIPTOCYTOSIS CHROMOSOMAL REGION GENE 1; AMMECR1" 3289 300200 "ADRENAL HYPOPLASIA, CONGENITAL; AHC" 3290 300204 MIDLINE 2 3291 300209 "SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2" 3292 300210 "MENTAL RETARDATION, X-LINKED 58; MRX58" 3293 300215 "LISSENCEPHALY, X-LINKED, 2; LISX2" 3294 300216 COATS DISEASE 3295 300218 "MENTAL RETARDATION, X-LINKED, SYNDROMIC 7; MRXS7" 3296 300219 MYOTUBULAR MYOPATHY WITH ABNORMAL GENITAL DEVELOPMENT 3297 300220 "MENTAL RETARDATION, X-LINKED, SYNDROMIC 10; MRXS10" 3298 300221 "HODGKIN DISEASE, X-LINKED PSEUDOAUTOSOMAL" 3299 300228 TESTICULAR GERM CELL TUMOR 1 3300 300232 "SPONDYLOEPIMETAPHYSEAL DYSPLASIA, X-LINKED, WITH MENTAL DETERIORATION" 3301 300233 "RADIOULNAR SYNOSTOSIS, RADIAL RAY ABNORMALITIES, AND SEVERE MALFORMATIONS IN THE MALE" 3302 300238 "MENTAL RETARDATION, X-LINKED, SYNDROMIC 11; MRXS11" 3303 300240 HOYERAAL-HREIDARSSON SYNDROME; HHS 3304 300243 "MENTAL RETARDATION, X-LINKED, SOUTH AFRICAN TYPE" 3305 300244 TERMINAL OSSEOUS DYSPLASIA AND PIGMENTARY DEFECTS 3306 300245 "PTOSIS, HEREDITARY CONGENITAL 2" 3307 300250 ADRENAL UNRESPONSIVENESS TO ACTH 3308 300257 DANON DISEASE 3309 300258 ROIFMAN SYNDROME 3310 300259 "MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO, X-LINKED" 3311 300260 LUBS X-LINKED MENTAL RETARDATION SYNDROME; MRXSL 3312 300261 ARMFIELD X-LINKED MENTAL RETARDATION SYNDROME 3313 300262 ABIDI X-LINKED MENTAL RETARDATION SYNDROME 3314 300263 SIDERIUS X-LINKED MENTAL RETARDATION SYNDROME 3315 300266 "SPASTIC PARAPLEGIA 16, X-LINKED; SPG16" 3316 300268 MOVED TO 610618 3317 300270 ADRENOMYODYSTROPHY 3318 300271 "MENTAL RETARDATION, X-LINKED 72; MRX72" 3319 300273 "GOITER, MULTINODULAR 2; MNG2" 3320 300274 ANDROGEN INSENSITIVITY SYNDROME DUE TO COACTIVATOR DEFICIENCY 3321 300279 MOVED TO 300260 3322 300280 URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME 3323 300290 "INTRAUTERINE GROWTH RETARDATION, METAPHYSEAL DYSPLASIA, ADRENAL HYPOPLASIA CONGENITA, AND GENITAL ANOMALIES" 3324 300291 "ECTODERMAL DYSPLASIA, HYPOHIDROTIC, WITH IMMUNE DEFICIENCY" 3325 300293 MOVED TO 301410 3326 300299 "NEUTROPENIA, SEVERE CONGENITAL, X-LINKED; XLN" 3327 300301 "ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH IMMUNODEFICIENCY, OSTEOPETROSIS, AND LYMPHEDEMA; OLEDAID" 3328 300306 "OBESITY, SUSCEPTIBILITY TO, X-LINKED" 3329 300310 "AGAMMAGLOBULINEMIA, X-LINKED, TYPE 2; AGMX2" 3330 300321 FG SYNDROME 2; FGS2 3331 300322 LESCH-NYHAN SYNDROME; LNS 3332 300323 "GOUT, HPRT-RELATED" 3333 300324 "MENTAL RETARDATION, X-LINKED 53; MRX53" 3334 300331 "THROMBOCYTOSIS, FAMILIAL X-LINKED" 3335 300337 HYPOMELANOSIS OF ITO; HMI 3336 300345 "MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 1; MCOPCB1" 3337 300352 "CREATINE DEFICIENCY SYNDROME, X-LINKED" 3338 300354 "MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, SMALL TESTES, MUSCLE WASTING, AND TREMOR" 3339 300355 "MENTAL RETARDATION, X-LINKED 73; MRX73" 3340 300360 "MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE" 3341 300367 "DYSERYTHROPOIETIC ANEMIA WITH THROMBOCYTOPENIA MACROTHROMBOCYTOPENIA, X-LINKED, INCLUDED" 3342 300372 "MENTAL RETARDATION, X-LINKED 42; MRX42" 3343 300373 OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS; OSCS 3344 300376 "MUSCULAR DYSTROPHY, BECKER TYPE; BMD" 3345 300378 "RADIAL RAY DEFICIENCY, X-LINKED" 3346 300387 "MENTAL RETARDATION, X-LINKED 63; MRX63" 3347 300388 "POLYMICROGYRIA, BILATERAL PERISYLVIAN; BPP" 3348 300389 RETINITIS PIGMENTOSA 3; RP3 3349 300397 MOVED TO 300352 3350 300400 "SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED; SCIDX1" 3351 300406 FG SYNDROME 3; FGS3 3352 300412 MOVED TO 300166 3353 300419 "MENTAL RETARDATION, X-LINKED 54; MRX54" 3354 300421 WITTWER SYNDROME 3355 300422 FG SYNDROME 4; FGS4 3356 300423 "MENTAL RETARDATION, X-LINKED, WITH EPILEPSY; XMRE" 3357 300424 RETINITIS PIGMENTOSA 23; RP23 3358 300425 "AUTISM, X-LINKED, SUSCEPTIBILITY TO, 1 AUTSX1" 3359 300426 MOVED TO 300143 3360 300428 "MENTAL RETARDATION, X-LINKED 2; MRX2" 3361 300430 MOVED TO 300419 3362 300431 ATKIN-FLAITZ SYNDROME 3363 300432 "EPILEPSY, MYOCLONIC, X-LINKED, WITH MENTAL RETARDATION AND SPASTICITY" 3364 300433 "MENTAL RETARDATION, X-LINKED 81; MRX81" 3365 300434 STOCCO DOS SANTOS X-LINKED MENTAL RETARDATION SYNDROME 3366 300436 "MENTAL RETARDATION, X-LINKED 46; MRX46" 3367 300438 HYDROXYACYL-CoA DEHYDROGENASE II DEFICIENCY 3368 300442 MOVED TO 311900 3369 300448 ALPHA-THALASSEMIA MYELODYSPLASIA SYNDROME; ATMDS 3370 300454 "MENTAL RETARDATION, X-LINKED 77; MRX77" 3371 300458 MOVED TO 300055 3372 300464 "CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 3" 3373 300465 MOVED TO 301040 3374 300471 CUBITUS VALGUS WITH MENTAL RETARDATION AND UNUSUAL FACIES 3375 300472 "CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA" 3376 300475 CONTIGUOUS ABCD1/DXS1375E DELETION SYNDROME 3377 300476 "CONE-ROD DYSTROPHY, X-LINKED, 3; CORDX3" 3378 300484 OROFACIODIGITAL SYNDROME VIII; OFD8 3379 300486 "MENTAL RETARDATION, X-LINKED, WITH CEREBELLAR HYPOPLASIA AND DISTINCTIVE FACIAL APPEARANCE" 3380 300488 "MENOPAUSE, NATURAL, AGE AT, QUANTITATIVE TRAIT LOCUS 1; MENOQ1" 3381 300489 "SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED RECESSIVE" 3382 300491 "EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS" 3383 300494 "ASPERGER SYNDROME, X-LINKED, SUSCEPTIBILITY TO, 1" 3384 300495 "AUTISM, X-LINKED, SUSCEPTIBILITY TO, 2" 3385 300496 "AUTISM, X-LINKED, SUSCEPTIBILITY TO, 3" 3386 300497 "ASPERGER SYNDROME, X-LINKED, SUSCEPTIBILITY TO, 2" 3387 300498 "MENTAL RETARDATION, X-LINKED 45; MRX45" 3388 300500 "ALBINISM, OCULAR, TYPE I; OA1" 3389 300501 MOVED TO 309549 3390 300503 MOVED TO 300419 3391 300504 "MENTAL RETARDATION, X-LINKED 52; MRX52" 3392 300505 "MENTAL RETARDATION, X-LINKED 84; MRX84" 3393 300509 "DYSLEXIA, SUSCEPTIBILITY TO, 9; DYX9" 3394 300510 OVARIAN DYSGENESIS 2; ODG2 3395 300511 PREMATURE OVARIAN FAILURE 2A; POF2A 3396 300600 ALAND ISLAND EYE DISEASE; AIED 3397 300650 "ALBINISM, OCULAR, WITH LATE-ONSET SENSORINEURAL DEAFNESS; OASD" 3398 300700 ALBINISM-DEAFNESS SYNDROME; ADFN 3399 301000 WISKOTT-ALDRICH SYNDROME; WAS 3400 301040 "ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED; ATRX" 3401 301050 "ALPORT SYNDROME, X-LINKED; ATS" 3402 301090 "TETRA-AMELIA, X-LINKED" 3403 301100 MOVED TO 301200 3404 301200 "AMELOGENESIS IMPERFECTA, HYPOPLASTIC/HYPOMATURATION, X-LINKED 1" 3405 301201 "AMELOGENESIS IMPERFECTA, HYPOPLASTIC/HYPOMATURATION, X-LINKED 2" 3406 301220 "PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS; PDR" 3407 301300 "ANEMIA, SIDEROBLASTIC, X-LINKED" 3408 301310 "ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA; ASAT" 3409 301410 "NEURAL TUBE DEFECTS, X-LINKED SPINA BIFIDA, X-LINKED, INCLUDED" 3410 301500 FABRY DISEASE 3411 301590 "MICROPHTHALMIA, SYNDROMIC 4; MCOPS4" 3412 301700 ANOSMIA 3413 301790 "SPINOCEREBELLAR ATAXIA, X-LINKED 3" 3414 301800 "ANUS, IMPERFORATE" 3415 301815 "ARTHROGRYPOSIS, ECTODERMAL DYSPLASIA, CLEFT LIP/PALATE, AND DEVELOPMENTAL DELAY" 3416 301830 "SPINAL MUSCULAR ATROPHY, INFANTILE X-LINKED; XLSMA" 3417 301835 ARTS SYNDROME; ARTS 3418 301840 "SPINOCEREBELLAR ATAXIA, X-LINKED 4" 3419 301845 BAZEX SYNDROME; BZX 3420 301900 BORJESON-FORSSMAN-LEHMANN SYNDROME; BFLS 3421 301940 "BRACHYDACTYLY, MONONEN TYPE" 3422 301950 "BRANCHIAL ARCH SYNDROME, X-LINKED" 3423 302000 "BULLOUS DYSTROPHY, HEREDITARY MACULAR TYPE" 3424 302030 CALVARIAL HYPEROSTOSIS 3425 302045 "CARDIOMYOPATHY, DILATED, 3B; CMD3B" 3426 302060 BARTH SYNDROME; BTHS 3427 302200 "CATARACT, CONGENITAL TOTAL, WITH POSTERIOR SUTURAL OPACITIES IN HETEROZYGOTES; CCT" 3428 302300 "MICROPHTHALMIA, ISOLATED, WITH CATARACT 3; MCOPCT3" 3429 302350 NANCE-HORAN SYNDROME; NHS 3430 302380 CATEL-MANZKE SYNDROME 3431 302400 "CENTRAL INCISORS, ABSENCE OF" 3432 302500 "SPINOCEREBELLAR ATAXIA, X-LINKED 1; SCAX1" 3433 302600 "SPINOCEREBELLAR ATAXIA, X-LINKED 2" 3434 302700 "CEREBRAL SCLEROSIS, DIFFUSE, SCHOLZ TYPE" 3435 302800 "CHARCOT-MARIE-TOOTH DISEASE, X-LINKED, 1; CMTX1" 3436 302802 "CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 3; CMTX3" 3437 302803 "CHARCOT-MARIE-TOOTH PERONEAL MUSCULAR ATROPHY, X-LINKED, WITH APLASIA CUTIS CONGENITA" 3438 302900 "CHARCOT-MARIE-TOOTH PERONEAL MUSCULAR ATROPHY AND FRIEDREICH ATAXIA, COMBINED" 3439 302905 "CHARGE-LIKE SYNDROME, X-LINKED" 3440 302950 "CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE; CDPX1" 3441 302960 "CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT; CDPX2" 3442 303100 CHOROIDEREMIA; CHM 3443 303110 CHOROIDEREMIA WITH DEAFNESS AND OBESITY 3444 303350 MASA SYNDROME 3445 303400 "CLEFT PALATE, X-LINKED; CPX CLEFT PALATE WITH ANKYLOGLOSSIA, INCLUDED" 3446 303600 COFFIN-LOWRY SYNDROME; CLS 3447 303650 COLONIC ATRESIA 3448 303700 "COLORBLINDNESS, BLUE-MONO-CONE-MONOCHROMATIC TYPE; CBBM" 3449 303800 "COLORBLINDNESS, PARTIAL, DEUTAN SERIES; CBD" 3450 303900 "COLORBLINDNESS, PARTIAL, PROTAN SERIES; CBP" 3451 304000 "COLORBLINDNESS, PARTIAL TRITANOMALY" 3452 304020 "CONE-ROD DYSTROPHY, X-LINKED, 1; CORDX1" 3453 304030 "CONE DYSTROPHY, X-LINKED, WITH TAPETAL-LIKE SHEEN" 3454 304050 AICARDI SYNDROME; AIC 3455 304100 "CORPUS CALLOSUM, PARTIAL AGENESIS OF, X-LINKED" 3456 304110 CRANIOFRONTONASAL SYNDROME; CFNS 3457 304120 "OTOPALATODIGITAL SYNDROME, TYPE II; OPD2" 3458 304150 "CUTIS LAXA, X-LINKED" 3459 304200 "CUTIS VERTICIS GYRATA, THYROID APLASIA, AND MENTAL RETARDATION" 3460 304300 "CYANIDE, INABILITY TO SMELL" 3461 304340 "DANDY-WALKER MALFORMATION WITH MENTAL RETARDATION, BASAL GANGLIA DISEASE, AND SEIZURES" 3462 304350 DEAFNESS-HYPOGONADISM SYNDROME; DHS 3463 304400 "DEAFNESS, X-LINKED 2; DFNX2" 3464 304500 "DEAFNESS, X-LINKED 1; DFNX1" 3465 304590 "DEAFNESS, HIGH-FREQUENCY SENSORINEURAL, X-LINKED" 3466 304700 MOHR-TRANEBJAERG SYNDROME; MTS 3467 304730 DERMOIDS OF CORNEA; CND 3468 304790 "IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED; IPEX" 3469 304800 "DIABETES INSIPIDUS, NEPHROGENIC, X-LINKED" 3470 304900 "DIABETES INSIPIDUS, NEUROHYPOPHYSEAL TYPE" 3471 304950 "DYGGVE-MELCHIOR-CLAUSEN SYNDROME, X-LINKED" 3472 305000 "DYSKERATOSIS CONGENITA, X-LINKED; DKC" 3473 305100 ECTODERMAL DYSPLASIA 1; ED1 3474 305200 "EHLERS-DANLOS SYNDROME, TYPE V" 3475 305300 ENDOCARDIAL FIBROELASTOSIS 3476 305350 "EPIDERMODYSPLASIA VERRUCIFORMIS, X-LINKED; EDVX; EDV2" 3477 305390 "EXUDATIVE VITREORETINOPATHY, FAMILIAL, X-LINKED RECESSIVE; EVR2" 3478 305400 FACIOGENITAL DYSPLASIA 3479 305435 FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 3; HBFQTL3 3480 305450 OPITZ-KAVEGGIA SYNDROME; OKS 3481 305550 FINGERPRINT BODY MYOPATHY 3482 305600 FOCAL DERMAL HYPOPLASIA; FDH 3483 305620 FRONTOMETAPHYSEAL DYSPLASIA; FMD 3484 305645 FRONTONASAL DYSPLASIA 3485 305690 GENITOURINARY TRACT ANOMALIES 3486 305700 SERTOLI CELL-ONLY SYNDROME 3487 305800 "MEMBRANOPROLIFERATIVE GLOMERULONEPHRITIS, X-LINKED" 3488 306100 "GONADAL DYSGENESIS, XY FEMALE TYPE; GDXY" 3489 306190 MOVED TO 300200 3490 306300 "GRANULOMAS, CONGENITAL CEREBRAL" 3491 306400 "GRANULOMATOUS DISEASE, CHRONIC, X-LINKED; CGD" 3492 306500 "GYNECOMASTIA, FAMILIAL" 3493 306700 HEMOPHILIA A 3494 306800 HEMOPHILIA A WITH VASCULAR ABNORMALITY 3495 306900 HEMOPHILIA B; HEMB 3496 306930 HEMOPOIETIC PROLIFERATION 3497 306950 "HERNIA, ANTERIOR DIAPHRAGMATIC" 3498 306955 "HETEROTAXY, VISCERAL, 1, X-LINKED; HTX1" 3499 306960 HHHH SYNDROME 3500 306995 HOMOSEXUALITY 1; HMS1 3501 307000 HYDROCEPHALUS DUE TO CONGENITAL STENOSIS OF AQUEDUCT OF SYLVIUS; HSAS 3502 307010 HYDROCEPHALUS WITH CEREBELLAR AGENESIS 3503 307030 HYPERGLYCEROLEMIA 3504 307200 "HYPOGAMMAGLOBULINEMIA AND ISOLATED GROWTH HORMONE DEFICIENCY, X-LINKED" 3505 307300 "HYPOGONADISM, MALE" 3506 307500 "HYPOGONADISM, MALE, WITH MENTAL RETARDATION AND SKELETAL ANOMALIES" 3507 307700 "HYPOPARATHYROIDISM, X-LINKED; HYPX" 3508 307800 "HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT" 3509 307810 MOVED TO 307800 AND 300550 3510 307830 "HYPOURICEMIA, FAMILIAL RENAL, DUE TO TUBULAR HYPERSECRETION" 3511 308050 CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS 3512 308100 "ICHTHYOSIS, X-LINKED" 3513 308200 ICHTHYOSIS AND MALE HYPOGONADISM 3514 308205 "ICHTHYOSIS FOLLICULARIS, ATRICHIA, AND PHOTOPHOBIA SYNDROME" 3515 308220 "IMMUNODEFICIENCY, X-LINKED, WITH DEFICIENCY OF 115,000 DALTON SURFACE GLYCOPROTEIN" 3516 308230 "IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1; HIGM1" 3517 308240 "LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1; XLP1" 3518 308250 "IMMUNOGLOBULIN M, LEVEL OF" 3519 308280 "IMPACTED TEETH, MULTIPLE" 3520 308300 INCONTINENTIA PIGMENTI; IP 3521 308350 "INFANTILE SPASM SYNDROME, X-LINKED" 3522 308370 INFERTILE MALE SYNDROME 3523 308500 IRIS HYPOPLASIA WITH GLAUCOMA; IHG 3524 308600 "JAUNDICE, FAMILIAL OBSTRUCTIVE, OF INFANCY" 3525 308700 KALLMANN SYNDROME 1; KAL1 3526 308750 KALLMANN SYNDROME WITH SPASTIC PARAPLEGIA 3527 308800 KERATOSIS FOLLICULARIS SPINULOSA DECALVANS; KFSD 3528 308830 "KERATOSIS FOLLICULARIS, DWARFISM, AND CEREBRAL ATROPHY" 3529 308850 LARYNGEAL ABDUCTOR PARALYSIS 3530 308905 "LEBER OPTIC ATROPHY, SUSCEPTIBILITY TO" 3531 308930 "LEIGH SYNDROME, X-LINKED" 3532 308940 "LEIOMYOMATOSIS, ESOPHAGEAL AND VULVAL, WITH NEPHROPATHY" 3533 308950 LESCH-NYHAN PHENOTYPE WITH NORMAL HGPRT 3534 308960 "LEUKEMIA, ACUTE, ?X-LINKED" 3535 309000 LOWE OCULOCEREBRORENAL SYNDROME; OCRL 3536 309100 "MACULAR DYSTROPHY, X-LINKED" 3537 309120 MALE INFERTILITY FROM DEFECT IN MEIOSIS 3538 309150 "MALE PSEUDOHERMAPHRODITISM: DEFICIENCY OF TESTICULAR 17,20-DESMOLASE; TDD" 3539 309200 MAJOR AFFECTIVE DISORDER 2; MAFD2 3540 309300 MEGALOCORNEA; MGC1 3541 309350 MELNICK-NEEDLES SYNDROME; MNS 3542 309400 MENKES DISEASE 3543 309470 MOVED TO 309500 3544 309480 MENTAL RETARDATION ASSOCIATED WITH PSORIASIS 3545 309490 MOVED TO 309580 3546 309500 RENPENNING SYNDROME 1; RENS1 3547 309510 PARTINGTON X-LINKED MENTAL RETARDATION SYNDROME; PRTS 3548 309520 LUJAN-FRYNS SYNDROME 3549 309530 "MENTAL RETARDATION, X-LINKED 1; MRX1" 3550 309541 "MENTAL RETARDATION, X-LINKED 3; MRX3" 3551 309545 "MENTAL RETARDATION, X-LINKED, SYNDROMIC 12; MRXS12" 3552 309548 "FRAGILE SITE, FOLIC ACID TYPE, RARE, FRA(X)(q28); FRAXE" 3553 309549 "MENTAL RETARDATION, X-LINKED 9; MRX9" 3554 309555 "MENTAL RETARDATION WITH OPTIC ATROPHY, DEAFNESS, AND SEIZURES" 3555 309560 MENTAL RETARDATION WITH SPASTIC PARAPLEGIA AND PALMOPLANTAR HYPERKERATOSIS 3556 309580 "MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1; MRXHF1" 3557 309583 "MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE" 3558 309585 WILSON-TURNER X-LINKED MENTAL RETARDATION SYNDROME; WTS 3559 309590 MOVED TO 309580 3560 309600 MOVED TO 300523 3561 309605 MILES-CARPENTER X-LINKED MENTAL RETARDATION SYNDROME; MCS 3562 309610 PRIETO X-LINKED MENTAL RETARDATION SYNDROME; PRS 3563 309620 "MENTAL RETARDATION, SKELETAL DYSPLASIA, AND ABDUCENS PALSY; MRSD" 3564 309630 METACARPAL 4-5 FUSION; MF4 3565 309640 MENTAL RETARDATION WITH SPASTIC PARAPLEGIA 3566 309645 METAPHYSEAL ANADYSPLASIA 3567 309660 MOVED TO 300257 3568 309700 MOVED TO 310600 3569 309800 "MICROPHTHALMIA, SYNDROMIC 1; MCOPS1" 3570 309801 "MICROPHTHALMIA, SYNDROMIC 7; MCOPS7" 3571 309840 "MODIFIER, X-LINKED, FOR NEUROFUNCTIONAL DEFECTS" 3572 309900 MUCOPOLYSACCHARIDOSIS TYPE II 3573 309930 "MUSCULAR DYSTROPHY, CARDIAC TYPE" 3574 309950 "MUSCULAR DYSTROPHY, HEMIZYGOUS LETHAL TYPE" 3575 310000 "MUSCULAR DYSTROPHY, MABRY TYPE" 3576 310095 "MUSCULAR DYSTROPHY, PROGRESSIVE PECTORODORSAL" 3577 310200 "MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD" 3578 310300 "EMERY-DREIFUSS MUSCULAR DYSTROPHY, X-LINKED; EDMD" 3579 310350 MYELOLYMPHATIC INSUFFICIENCY 3580 310370 "MYOCLONIC EPILEPSY, PROGRESSIVE" 3581 310400 MYOTUBULAR MYOPATHY 1; MTM1 3582 310440 "MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY; MEAX" 3583 310450 MOVED TO 159000 3584 310460 MYOPIA 1; MYP1 3585 310465 N SYNDROME; NSX 3586 310468 "NEPHROLITHIASIS, X-LINKED RECESSIVE, WITH RENAL FAILURE; XRN" 3587 310470 "NEUROPATHY, HEREDITARY SENSORY, X-LINKED" 3588 310490 COWCHOCK SYNDROME 3589 310500 "NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1A; CSNB1A" 3590 310600 NORRIE DISEASE; ND 3591 310700 "NYSTAGMUS 1, CONGENITAL, X-LINKED; NYS1" 3592 310800 "NYSTAGMUS, MYOCLONIC" 3593 310900 "OCCIPITAL HAIR, WHITE LOCK OF" 3594 310980 OMPHALOCELE 3595 311000 "OPHTHALMOPLEGIA, EXTERNAL, AND MYOPIA; OPEM" 3596 311050 OPTIC ATROPHY 2; OPA2 3597 311070 "CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5; CMTX5" 3598 311100 OPTIC ATROPHY--SPASTIC PARAPLEGIA SYNDROME 3599 311150 OPTICOACOUSTIC NERVE ATROPHY WITH DEMENTIA 3600 311200 OROFACIODIGITAL SYNDROME I; OFD1 3601 311250 "ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO" 3602 311280 OSTEOPATHIA STRIATA WITH PIGMENTARY DERMOPATHY INCLUDING WHITE FORELOCK 3603 311300 "OTOPALATODIGITAL SYNDROME, TYPE I; OPD1" 3604 311350 OUABAIN RESISTANCE; OUBR 3605 311360 PREMATURE OVARIAN FAILURE 1; POF1 3606 311400 PAINE SYNDROME 3607 311450 PALLISTER W SYNDROME 3608 311510 "PARKINSONISM, EARLY-ONSET, WITH MENTAL RETARDATION" 3609 311601 MOVED TO 312080 3610 311750 MOVED TO 170650 3611 311895 PIERRE ROBIN SEQUENCE WITH FACIAL AND DIGITAL ANOMALIES 3612 311900 TARP SYNDROME; TARPS 3613 312000 PANHYPOPITUITARISM; PHP 3614 312060 "PROPERDIN DEFICIENCY, X-LINKED" 3615 312080 PELIZAEUS-MERZBACHER DISEASE; PMD 3616 312100 "PSEUDOHERMAPHRODITISM, INCOMPLETE MALE, TYPE I" 3617 312150 "MULTIPLE PTERYGIUM SYNDROME, X-LINKED" 3618 312190 "RADIAL APLASIA, X-LINKED" 3619 312200 "RADIAL LOOP, PLAIN, ON RIGHT INDEX FINGER" 3620 312210 RADIATION SENSITIVITY OF NATURAL KILLER ACTIVITY 3621 312300 REIFENSTEIN SYNDROME 3622 312450 MOVED TO 252010 3623 312500 "RETICULOENDOTHELIOSIS, X-LINKED" 3624 312530 RETINAL DETACHMENT 3625 312550 "RETINAL DYSPLASIA, PRIMARY; PRD" 3626 312600 "RETINITIS PIGMENTOSA 2, X-LINKED; RP2 RP2 GENE, INCLUDED; RP2, INCLUDED" 3627 312612 RETINITIS PIGMENTOSA 6; RP6 3628 312700 "RETINOSCHISIS 1, X-LINKED, JUVENILE; RS1" 3629 312750 RETT SYNDROME; RTT 3630 312780 "RUSSELL-SILVER SYNDROME, X-LINKED" 3631 312800 MOVED TO 600145 3632 312830 SCARF SYNDROME 3633 312840 SCHIMKE X-LINKED MENTAL RETARDATION SYNDROME 3634 312860 SCOTT CRANIODIGITAL SYNDROME WITH MENTAL RETARDATION 3635 312863 "COMBINED IMMUNODEFICIENCY, X-LINKED; CIDX" 3636 312870 "SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1; SGBS1" 3637 312910 SPASTIC PARAPARESIS AND DEAFNESS 3638 312920 "SPASTIC PARAPLEGIA 2, X-LINKED; SPG2" 3639 313000 "SPATIAL VISUALIZATION, APTITUDE FOR" 3640 313200 "SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1; SMAX1" 3641 313350 SPLIT-HAND/FOOT MALFORMATION 2; SHFM2 3642 313400 "SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, X-LINKED; SEDT" 3643 313420 "SPONDYLOMETAPHYSEAL DYSPLASIA, X-LINKED" 3644 313490 "TAURODONTISM, MICRODONTIA, AND DENS INVAGINATUS" 3645 313500 "TOOTH AGENESIS, SELECTIVE, X-LINKED, 1; STHAGX1" 3646 313550 "TEETH, BURIED" 3647 313850 THORACOABDOMINAL SYNDROME; THAS 3648 313900 THROMBOCYTOPENIA 1; THC1 3649 314050 "THROMBOCYTOPENIA, PLATELET DYSFUNCTION, HEMOLYSIS, AND IMBALANCED GLOBIN SYNTHESIS" 3650 314100 "THUMBS, CONGENITAL CLASPED" 3651 314200 THYROXINE-BINDING GLOBULIN OF SERUM; TBG 3652 314240 TOOTH SIZE 3653 314250 "DYSTONIA 3, TORSION, X-LINKED; DYT3" 3654 314300 "TORTICOLLIS, KELOIDS, CRYPTORCHIDISM, AND RENAL DYSPLASIA; TKCR" 3655 314320 TRIGONOCEPHALY WITH SHORT STATURE AND DEVELOPMENTAL DELAY 3656 314360 ULNAR HYPOPLASIA WITH LOBSTER-CLAW DEFORMITY OF FEET 3657 314380 UNIQUE GREEN PHENOMENON 3658 314390 "VACTERL ASSOCIATION WITH HYDROCEPHALUS, X-LINKED" 3659 314400 "CARDIAC VALVULAR DYSPLASIA, X-LINKED; CVD1" 3660 314500 VAN DEN BOSCH SYNDROME 3661 314550 "VESICOURETERAL REFLUX, X-LINKED; VURX" 3662 314570 WIDOW'S PEAK SYNDROME 3663 314580 WIEACKER SYNDROME 3664 314600 WILDERVANCK SYNDROME 3665 314900 XM SYSTEM 3666 315000 ZONULAR CATARACT AND NYSTAGMUS 3667 400004 "RETINITIS PIGMENTOSA, Y-LINKED" 3668 415000 "SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED" 3669 424500 GONADOBLASTOMA; GBY 3670 425500 "HAIRY EARS, Y-LINKED" 3671 475000 "GROWTH CONTROL, Y-CHROMOSOME INFLUENCED; GCY" 3672 480000 SEX-DETERMINING REGION Y; SRY 3673 500000 "CARDIOMYOPATHY, INFANTILE HISTIOCYTOID" 3674 500001 LEBER OPTIC ATROPHY AND DYSTONIA 3675 500002 MITOCHONDRIAL MYOPATHY WITH DIABETES 3676 500003 "STRIATONIGRAL DEGENERATION, INFANTILE, MITOCHONDRIAL" 3677 500004 RETINITIS PIGMENTOSA-DEAFNESS SYNDROME 3678 502000 AGING 3679 510000 REMOVED FROM DATABASE 3680 515000 CHLORAMPHENICOL TOXICITY 3681 520000 "DIABETES-DEAFNESS SYNDROME, MATERNALLY TRANSMITTED" 3682 520100 "DIARRHEA, CHRONIC, WITH VILLOUS ATROPHY" 3683 530000 KEARNS-SAYRE SYNDROME; KSS 3684 535000 LEBER OPTIC ATROPHY 3685 540000 "MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES; MELAS" 3686 545000 MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS; MERRF 3687 550000 MOVED TO 157640 3688 550500 "MYOGLOBINURIA, RECURRENT" 3689 551000 "MYOPATHY, MITOCHONDRIAL, LETHAL INFANTILE; LIMM" 3690 551200 "NEPHROPATHY, CHRONIC TUBULOINTERSTITIAL" 3691 551500 "NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA" 3692 553000 ONCOCYTOMA 3693 556500 "PARKINSON DISEASE, MITOCHONDRIAL" 3694 557000 PEARSON MARROW-PANCREAS SYNDROME 3695 560000 "RENAL TUBULOPATHY, DIABETES MELLITUS, AND CEREBELLAR ATAXIA DUE TO DUPLICATION OF MITOCHONDRIAL DNA" 3696 580000 "DEAFNESS, AMINOGLYCOSIDE-INDUCED" 3697 598500 "WOLFRAM SYNDROME, MITOCHONDRIAL FORM" 3698 600000 SPONDYLOCAMPTODACTYLY 3699 600002 EIKEN SKELETAL DYSPLASIA 3700 600057 "EXSTROPHY OF BLADDER BLADDER EXSTROPHY AND EPISPADIAS COMPLEX, INCLUDED; BEEC, INCLUDED" 3701 600059 RETINITIS PIGMENTOSA 13; RP13 3702 600060 "DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE 2; DFNB2" 3703 600072 FATAL FAMILIAL INSOMNIA; FFI 3704 600080 "MYELOCYTIC LEUKEMIA-LIKE SYNDROME, FAMILIAL, CHRONIC" 3705 600081 "25-@HYDROXYVITAMIN D3 DEFICIENCY, SELECTIVE" 3706 600082 "PROSTATIC HYPERPLASIA, BENIGN; BPH" 3707 600084 "MACROCYTOSIS, FAMILIAL" 3708 600092 CHONDRODYSPLASIA-PSEUDOHERMAPHRODITISM SYNDROME 3709 600093 SPONDYLOEPIPHYSEAL DYSPLASIA TARDA WITH CHARACTERISTIC FACIES 3710 600095 SPLIT-HAND/FOOT MALFORMATION 3; SHFM3 3711 600096 PUERTO RICAN INFANT HYPOTONIA SYNDROME 3712 600101 "DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 2; DFNA2" 3713 600105 RETINITIS PIGMENTOSA 12; RP12 RETINITIS PIGMENTOSA WITH PARAARTERIOLAR PRESERVATION OF RETINAL PIGMENT 3714 600110 STARGARDT DISEASE 3; STGD3 3715 600116 "PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE; PARK2" 3716 600117 "DYSPHASIA, FAMILIAL DEVELOPMENTAL" 3717 600118 WARBURG MICRO SYNDROME; WARBM 3718 600121 "RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 3; RCDP3" 3719 600122 "MALE PSEUDOHERMAPHRODITISM/MENTAL RETARDATION SYNDROME, VERLOES TYPE" 3720 600123 ATRIOVENTRICULAR SEPTAL DEFECT WITH BLEPHAROPHIMOSIS AND ANAL AND RADIAL DEFECTS 3721 600131 "EPILEPSY, CHILDHOOD ABSENCE, 1; ECA1" 3722 600132 RETINITIS PIGMENTOSA 14; RP14 3723 600138 RETINITIS PIGMENTOSA 11; RP11 3724 600139 SUBEPENDYMOMA 3725 600143 "CEROID LIPOFUSCINOSIS, NEURONAL, 8; CLN8" 3726 600145 SACRAL DEFECT WITH ANTERIOR MENINGOCELE 3727 600146 "SPASTIC PARAPLEGIA 5B, AUTOSOMAL RECESSIVE; SPG5B" 3728 600151 MOVED TO 209900 3729 600155 "HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2; HSCR2" 3730 600159 PTERYGIUM COLLI AND MENTAL RETARDATION WITH FACIAL AND DIGITAL ANOMALIES 3731 600165 NANOPHTHALMOS 1; NNO1 3732 600166 "HYPERPARATHYROIDISM, PRIMARY, CAUSED BY WATER CLEAR CELL HYPERPLASIA" 3733 600171 GONADAL AGENESIS 3734 600175 "SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE" 3735 600176 PACHYGYRIA WITH MENTAL RETARDATION AND SEIZURES 3736 600193 "WAARDENBURG SYNDROME, TYPE IIB; WS2B" 3737 600195 "VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL; VMCM" 3738 600202 "DYSLEXIA, SUSCEPTIBILITY TO, 2; DYX2" 3739 600204 "EPIPHYSEAL DYSPLASIA, MULTIPLE, 2; EDM2" 3740 600208 MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS 3741 600223 SPINOCEREBELLAR ATAXIA 4; SCA4 3742 600224 SPINOCEREBELLAR ATAXIA 5; SCA5 3743 600231 "PALMOPLANTAR KERATODERMA, BOTHNIAN TYPE; PPKB" 3744 600251 OCULOMAXILLOFACIAL DYSPLASIA WITH OBLIQUE FACIAL CLEFTS 3745 600252 LOWRY-MACLEAN SYNDROME 3746 600256 "HYDROCEPHALUS, AUTOSOMAL DOMINANT" 3747 600257 BOR-DUANE HYDROCEPHALUS CONTIGUOUS GENE SYNDROME 3748 600263 "HELICOBACTER PYLORI INFECTION, SUSCEPTIBILITY TO" 3749 600268 APLASIA CUTIS CONGENITA WITH EPIBULBAR DERMOIDS 3750 600269 SHORT TARSUS WITH ABSENCE OF LOWER EYELASHES; STALE 3751 600273 "POLYCYSTIC KIDNEY DISEASE, INFANTILE SEVERE, WITH TUBEROUS SCLEROSIS; PKDTS" 3752 600274 FRONTOTEMPORAL DEMENTIA; FTD 3753 600302 FRYNS MACROCEPHALY 3754 600309 ATRIOVENTRICULAR SEPTAL DEFECT; AVSD 3755 600316 "DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE 3; DFNB3" 3756 600319 "DIABETES MELLITUS, INSULIN-DEPENDENT, 4; IDDM4" 3757 600325 AMINOPTERIN SYNDROME SINE AMINOPTERIN 3758 600328 "MIXED LINEAGE LEUKEMIA, TRANSLOCATED TO, 6; MLLT6" 3759 600329 OSTEOPETROSIS AND INFANTILE NEUROAXONAL DYSTROPHY 3760 600330 SERPENTINE FIBULA-POLYCYSTIC KIDNEY SYNDROME 3761 600331 PARC SYNDROME 3762 600334 "TIBIAL MUSCULAR DYSTROPHY, TARDIVE" 3763 600335 SUCCINIC ACIDEMIA 3764 600348 BAND HETEROTOPIA OF BRAIN 3765 600351 "ENTEROPATHY, FAMILIAL, WITH VILLOUS EDEMA AND IMMUNOGLOBULIN G2 DEFICIENCY" 3766 600356 "PACHYDERMODACTYLY, FAMILIAL" 3767 600360 "APLASIA CUTIS CONGENITA OF LIMBS, RECESSIVE" 3768 600361 HEREDITARY MOTOR AND SENSORY NEUROPATHY V 3769 600363 "SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT; SPG6" 3770 600373 CODAS SYNDROME 3771 600376 OSLER-RENDU-WEBER SYNDROME 2; ORW2 3772 600383 MESOMELIA-SYNOSTOSES SYNDROME 3773 600384 "APHALANGIA, PARTIAL, WITH SYNDACTYLY AND DUPLICATION OF METATARSAL IV" 3774 600399 "PECTUS EXCAVATUM, MACROCEPHALY, SHORT STATURE, DYSPLASTIC NAILS" 3775 600416 "MUSCULAR DYSTROPHY, SCAPULOHUMERAL" 3776 600419 ANGIOKERATOMA CORPORIS DIFFUSUM WITH ARTERIOVENOUS FISTULAS 3777 600430 BRACHYDACTYLY-MENTAL RETARDATION SYNDROME 3778 600457 "HYPERTRICHOSIS, ANTERIOR CERVICAL" 3779 600458 ADENOMYOSIS 3780 600459 ARTERIAL DISSECTION WITH LENTIGINOSIS 3781 600460 "CLEFT PALATE, CARDIAC DEFECT, GENITAL ANOMALIES, AND ECTRODACTYLY" 3782 600461 "HEMOLYTIC ANEMIA, LETHAL CONGENITAL NONSPHEROCYTIC, WITH GENITAL AND OTHER ABNORMALITIES" 3783 600462 MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC ANEMIA; MLASA 3784 600467 "MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 4" 3785 600496 "MATURITY-ONSET DIABETES OF THE YOUNG, TYPE III; MODY3" 3786 600501 ABCD SYNDROME 3787 600510 GLAUCOMA-RELATED PIGMENT DISPERSION SYNDROME 3788 600511 SCHIZOPHRENIA 3; SCZD3 3789 600512 "EPILEPSY, LATERAL TEMPORAL LOBE, AUTOSOMAL DOMINANT; ADLTE" 3790 600513 "EPILEPSY, NOCTURNAL FRONTAL LOBE, TYPE 1" 3791 600559 "HYDROCEPHALUS, ENDOCARDIAL FIBROELASTOSIS, AND CATARACTS" 3792 600561 SPONDYLOEPIPHYSEAL DYSPLASIA WITH ATLANTOAXIAL INSTABILITY 3793 600588 MOVED TO 188025 3794 600593 "CRANIOSYNOSTOSIS, ADELAIDE TYPE; CRSA" 3795 600598 "SETTING-SUN PHENOMENON, FAMILIAL BENIGN" 3796 600613 "NEUROBLASTOMA CANDIDATE REGION, SUPPRESSION OF TUMORIGENICITY 1; NBL1" 3797 600624 CONE-ROD DYSTROPHY 1; CORD1 3798 600625 "CLEFT LIP, CONGENITAL HEALED" 3799 600627 "HYPERTRYPTOPHANEMIA, FAMILIAL" 3800 600628 LOOSE ANAGEN HAIR SYNDROME 3801 600630 UV-SENSITIVE SYNDROME; UVS 3802 600631 "ENURESIS, NOCTURNAL, 1; ENUR1" 3803 600634 "PITUITARY ADENOMA, PROLACTIN-SECRETING" 3804 600638 "FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, TYPE 3; CFEOM3" 3805 600648 "NEVUS, EPIDERMAL, EPIDERMOLYTIC HYPERKERATOTIC TYPE EPIDERMOLYTIC HYPERKERATOSIS, LINEAR FORM, INCLUDED" 3806 600649 "CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE" 3807 600651 FRAGILE SITE 11B; FRA11B 3808 600652 "DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 4; DFNA4" 3809 600668 CHONDROCALCINOSIS 1; CCAL1 3810 600669 "EPILEPSY, IDIOPATHIC GENERALIZED; EIG" 3811 600670 "VARICELLA, SEVERE RECURRENT" 3812 600674 MICROTIA-ANOTIA 3813 600679 "DERMOID CYSTS, FAMILIAL FRONTONASAL" 3814 600680 MOVED TO 256730 3815 600705 SATOYOSHI SYNDROME 3816 600706 PROXIMAL MYOPATHY WITH FOCAL DEPLETION OF MITOCHONDRIA 3817 600721 D-2-@HYDROXYGLUTARIC ACIDURIA 3818 600736 VELOFACIOSKELETAL SYNDROME 3819 600737 "INCLUSION BODY MYOPATHY 2, AUTOSOMAL RECESSIVE; IBM2" 3820 600740 "HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III; HHC3" 3821 600757 OROFACIAL CLEFT 3; OFC3 3822 600771 "DWARFISM, FAMILIAL, WITH MUSCLE SPASMS" 3823 600775 LAMBDOID SYNOSTOSIS 3824 600776 FRYNS MICROPHTHALMIA SYNDROME 3825 600790 "CHORIORETINAL ATROPHY, PROGRESSIVE BIFOCAL" 3826 600791 ENLARGED VESTIBULAR AQUEDUCT; EVA 3827 600792 "DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE 5; DFNB5" 3828 600794 "NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V; HMN5" 3829 600795 "FRONTOTEMPORAL DEMENTIA, CHROMOSOME 3-LINKED; FTD3" 3830 600801 ISOPROTERENOL-MEDIATED VASODILATATION 3831 600802 "SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-NEGATIVE" 3832 600803 GALLBLADDER DISEASE 1; GBD1 3833 600807 "ASTHMA, SUSCEPTIBILITY TO" 3834 600808 "ENURESIS, NOCTURNAL, 2; ENUR2" 3835 600819 "FRAGILE X MENTAL RETARDATION, AUTOSOMAL HOMOLOG 1; FXR1" 3836 600850 SCHIZOPHRENIA 4; SCZD4 3837 600852 RETINITIS PIGMENTOSA 17; RP17 3838 600858 "CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, WITH WOLFF-PARKINSON-WHITE SYNDROME" 3839 600880 "BUDD-CHIARI SYNDROME MEMBRANOUS OBSTRUCTION OF INFERIOR VENA CAVA, INCLUDED; MOVC, INCLUDED" 3840 600881 "CATARACT, CONGENITAL ZONULAR, WITH SUTURAL OPACITIES; CCZS" 3841 600882 "CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B; CMT2B" 3842 600884 "CARDIOMYOPATHY, DILATED, 1B; CMD1B" 3843 600885 MOVED TO 251260 3844 600886 HYPERFERRITINEMIA-CATARACT SYNDROME 3845 600903 "WISKOTT-ALDRICH SYNDROME, AUTOSOMAL DOMINANT FORM" 3846 600906 ECTODERMAL DYSPLASIA WITH MENTAL RETARDATION AND SYNDACTYLY 3847 600907 "ENAMEL HYPOPLASIA, CATARACTS, AND AQUEDUCTAL STENOSIS" 3848 600908 "AGONADISM, XY, WITH MENTAL RETARDATION, SHORT STATURE, RETARDED BONE AGE, AND MULTIPLE EXTRAGENITAL MALFORMATIONS" 3849 600918 MOVED TO 220100 3850 600919 "CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED" 3851 600920 VAN DEN ENDE-GUPTA SYNDROME; VDEGS 3852 600952 TRANSSEXUALITY 3853 600955 PROPROTEIN CONVERTASE 1 DEFICIENCY 3854 600962 "PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC; NEPPK" 3855 600964 REFSUM DISEASE WITH INCREASED PIPECOLIC ACIDEMIA; RDPA 3856 600965 "DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 6; DFNA6" 3857 600969 "EPIPHYSEAL DYSPLASIA, MULTIPLE, 3; EDM3 EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPATHY, INCLUDED" 3858 600971 "DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE 6; DFNB6" 3859 600972 "ACHONDROGENESIS, TYPE IB; ACG1B" 3860 600974 "DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE 7; DFNB7" 3861 600975 "GLAUCOMA 3, PRIMARY INFANTILE, B; GLC3B" 3862 600977 CONE-ROD DYSTROPHY 5; CORD5 3863 600987 "CARDIAC MALFORMATION, CLEFT LIP-PALATE, MICROCEPHALY AND DIGITAL ANOMALIES" 3864 600989 INFUNDIBULOPELVIC DYSGENESIS 3865 600990 MOVED TO 119580 3866 600991 "HYDROCEPHALUS, SKELETAL ANOMALIES, AND MENTAL DISTURBANCE" 3867 600992 MOVED TO 206900 3868 600994 "DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 5; DFNA5" 3869 600995 "NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE; SRN1" 3870 600996 "ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 2; ARVD2" 3871 601001 "EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE" 3872 601003 BRODY MYOPATHY 3873 601004 "PORTAL VEIN, CAVERNOUS TRANSFORMATION OF" 3874 601005 TIMOTHY SYNDROME; TS 3875 601016 "MIDLINE MALFORMATIONS, MULTIPLE, WITH LIMB ABNORMALITIES AND HYPOPITUITARISM" 3876 601027 "TIBIA, ABSENCE OR HYPOPLASIA OF, WITH POLYDACTYLY, RETROCEREBELLAR ARACHNOID CYST, AND OTHER ANOMALIES" 3877 601039 ICHTHYOSIS-MENTAL RETARDATION SYNDROME WITH LARGE KERATOHYALIN GRANULES IN THE SKIN 3878 601042 "CHOREOATHETOSIS/SPASTICITY, EPISODIC; CSE" 3879 601067 "USHER SYNDROME, TYPE ID; USH1D" 3880 601068 "EPILEPSY, MYOCLONIC, BENIGN ADULT FAMILIAL, TYPE 1" 3881 601071 "DEAFNESS, AUTOSOMAL RECESSIVE 9; DFNB9" 3882 601072 "DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8; DFNB8" 3883 601075 "APLASIA CUTIS CONGENITA, HIGH MYOPIA, AND CONE-ROD DYSFUNCTION" 3884 601076 MURCS ASSOCIATION 3885 601083 CD4/CD8 T-CELL RATIO 3886 601085 "ROLANDIC EPILEPSY, MENTAL RETARDATION, AND SPEECH DYSPRAXIA, AUTOSOMAL DOMINANT; RESDAD" 3887 601086 "LATERALITY DEFECTS, AUTOSOMAL DOMINANT" 3888 601088 "CATARACTS, CONGENITAL, WITH SENSORINEURAL DEAFNESS, DOWN SYNDROME-LIKE FACIAL APPEARANCE, SHORT STATURE, AND MENTAL RETARDATION" 3889 601095 HARROD SYNDROME 3890 601096 "SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MICROMELIC" 3891 601098 "CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1C; CMT1C" 3892 601101 OSLER-RENDU-WEBER SYNDROME 3; ORW3 3893 601104 "SUPRANUCLEAR PALSY, PROGRESSIVE, 1; PSNP1" 3894 601110 "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id; CDG1D" 3895 601127 FALLOT COMPLEX WITH SEVERE MENTAL AND GROWTH RETARDATION 3896 601144 BRUGADA SYNDROME 1 3897 601152 HEREDITARY MOTOR AND SENSORY NEUROPATHY VI 3898 601154 "CARDIOMYOPATHY, DILATED, 1E; CMD1E" 3899 601160 LISSENCEPHALY TYPE III AND BONE DYSPLASIA 3900 601161 TRISOMY 18-LIKE SYNDROME 3901 601162 "SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT; SPG9" 3902 601163 "DIAPHRAGMATIC DEFECTS, LIMB DEFICIENCIES, AND OSSIFICATION DEFECTS OF SKULL" 3903 601164 MOVED TO 241080 3904 601170 "MUSCULAR DYSTROPHY, CONGENITAL, WITH SEVERE CENTRAL NERVOUS SYSTEM ATROPHY AND ABSENCE OF LARGE MYELINATED FIBERS" 3905 601186 "MICROPHTHALMIA, SYNDROMIC 9; MCOPS9" 3906 601187 GURRIERI SYNDROME 3907 601195 IRON OVERLOAD IN AFRICA 3908 601200 PLEUROPULMONARY BLASTOMA 3909 601202 "CATARACT, ANTERIOR POLAR, 2; CTAA2" 3910 601208 "DIABETES MELLITUS, INSULIN-DEPENDENT, 11; IDDM11" 3911 601214 NAXOS DISEASE 3912 601216 PLATYSPONDYLY WITH AMELOGENESIS IMPERFECTA 3913 601217 ALOPECIA-MENTAL RETARDATION SYNDROME WITH CONVULSIONS AND HYPERGONADOTROPIC HYPOGONADISM 3914 601220 OSTEOPOROSIS AND OCULOCUTANEOUS HYPOPIGMENTATION SYNDROME; OOCH 3915 601222 "CRANIOSYNOSTOSIS, PHILADELPHIA TYPE" 3916 601223 "NEURONAL INTESTINAL DYSPLASIA, TYPE B" 3917 601224 POTOCKI-SHAFFER SYNDROME 3918 601228 "POLYPOSIS SYNDROME, HEREDITARY MIXED, 1; HMPS1" 3919 601230 "DERMATITIS HERPETIFORMIS, FAMILIAL" 3920 601238 "CEREBELLAR ATAXIA, CAYMAN TYPE; ATCAY" 3921 601251 RETINAL CONE DYSTROPHY 2 3922 601277 "ICHTHYOSIS, LAMELLAR, 2; LI2" 3923 601279 DIGEORGE SYNDROME CRITICAL REGION GENE 6; DGCR6 3924 601283 "DIABETES MELLITUS, NONINSULIN-DEPENDENT, 1; NIDDM1" 3925 601286 "CATARACT, NONNUCLEAR POLYMORPHIC CONGENITAL, AUTOSOMAL DOMINANT" 3926 601287 "MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2F; LGMD2F" 3927 601313 "POLYCYSTIC KIDNEY DISEASE 1; PKD1 POLYCYSTIN 1, INCLUDED" 3928 601316 "DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 10; DFNA10" 3929 601317 "DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 11; DFNA11" 3930 601318 "DIABETES MELLITUS, INSULIN-DEPENDENT, 13; IDDM13" 3931 601319 ODONTOMICRONYCHIAL DYSPLASIA 3932 601321 NEUROFIBROMATOSIS-NOONAN SYNDROME; NFNS 3933 601322 "PORENCEPHALY, CEREBELLAR HYPOPLASIA, AND INTERNAL MALFORMATIONS" 3934 601331 "RENAL DYSPLASIA, DIFFUSE CYSTIC" 3935 601338 "CEREBELLAR ATAXIA, AREFLEXIA, PES CAVUS, OPTIC ATROPHY, AND SENSORINEURAL HEARING LOSS" 3936 601341 "ATROPHIA MACULOSA VARIOLIFORMIS CUTIS, FAMILIAL; AMVC" 3937 601344 "SPINAL DYSPLASIA, ANHALT TYPE" 3938 601345 "ECTODERMAL DYSPLASIA WITH NATAL TEETH, TURNPENNY TYPE" 3939 601346 "GASTROINTESTINAL ABNORMALITIES, MULTIPLE" 3940 601347 "MYELODYSPLASIA, IMMUNODEFICIENCY, FACIAL DYSMORPHISM, SHORT STATURE, AND PSYCHOMOTOR DELAY" 3941 601348 "ECTRODACTYLY OF LOWER LIMBS, CONGENITAL HEART DEFECT, AND MICROGNATHIA" 3942 601349 "MICROPHTHALMIA, SYNDROMIC 8; MCOPS8" 3943 601350 "SHORT STATURE SYNDROME, BRUSSELS TYPE" 3944 601351 "GROWTH RETARDATION, DEAFNESS, FEMORAL EPIPHYSEAL DYSPLASIA, AND LACRIMAL DUCT OBSTRUCTION" 3945 601352 "MENTAL RETARDATION, MICROCEPHALY, EPILEPSY, AND COARSE FACE" 3946 601353 "BRACHYCEPHALY, DEAFNESS, CATARACT, MICROSTOMIA, AND MENTAL RETARDATION" 3947 601356 "LETHAL SHORT-LIMB SKELETAL DYSPLASIA, AL GAZALI TYPE" 3948 601357 "BRACHIAL AMELIA, FOREBRAIN DEFECTS, AND FACIAL CLEFTS" 3949 601358 NICOLAIDES-BARAITSER SYNDROME 3950 601359 SEBACEOUS NEVUS SYNDROME AND HEMIMEGALENCEPHALY 3951 601360 "AMELIA, AUTOSOMAL RECESSIVE" 3952 601362 DIGEORGE SYNDROME/VELOCARDIOFACIAL SYNDROME SPECTRUM OF MALFORMATION 2 3953 601367 "STROKE, ISCHEMIC" 3954 601369 "DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 9; DFNA9" 3955 601370 "HOLOPROSENCEPHALY, SEMILOBAR, WITH CRANIOSYNOSTOSIS" 3956 601371 "CATARACT, AGE-RELATED NUCLEAR" 3957 601372 "CHOREA, REMITTING, WITH NYSTAGMUS AND CATARACT" 3958 601374 APROSENCEPHALY AND CEREBELLAR DYSGENESIS 3959 601375 "ECTODERMAL DYSPLASIA, HIDROTIC, CHRISTIANSON-FOURIE TYPE" 3960 601376 "CHONDRODYSPLASIA, LETHAL, WITH LONG BONE ANGULATION AND MIXED BONE DENSITY" 3961 601378 CRISPONI SYNDROME 3962 601379 HUNTER-MCALPINE CRANIOSYNOSTOSIS SYNDROME 3963 601382 "CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B1; CMT4B1" 3964 601386 "DEAFNESS, AUTOSOMAL RECESSIVE 12; DFNB12" 3965 601389 "CERVICAL RIBS, SPRENGEL ANOMALY, ANAL ATRESIA, AND URETHRAL OBSTRUCTION" 3966 601390 CEREBROFACIOARTICULAR SYNDROME 3967 601399 "PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY" 3968 601400 MOVED TO 275355 3969 601407 "DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2; NIDDM2" 3970 601410 "DIABETES MELLITUS, TRANSIENT NEONATAL, 1" 3971 601412 "DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 7; DFNA7" 3972 601414 RETINITIS PIGMENTOSA 18; RP18 3973 601419 "MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED" 3974 601420 "MICROCEPHALY, CORPUS CALLOSUM DYSGENESIS, AND CLEFT LIP/PALATE" 3975 601427 "ANTERIOR CHAMBER CLEAVAGE DISORDER, CEREBELLAR HYPOPLASIA, HYPOTHYROIDISM, AND TRACHEAL STENOSIS" 3976 601438 "RHIZOMELIC DYSPLASIA, PATTERSON-LOWRY TYPE" 3977 601446 MOVED TO 300707 3978 601449 "DEAFNESS, PROGRESSIVE, WITH STAPES FIXATION" 3979 601450 "DISLOCATION OF HIP, CONGENITAL, WITH HYPEREXTENSIBILITY OF FINGERS AND FACIAL DYSMORPHISM" 3980 601451 NEVO SYNDROME 3981 601452 OCULOAURICULOFRONTONASAL SYNDROME; OAFNS 3982 601453 TRICHODENTAL DYSPLASIA 3983 601454 PSORIASIS SUSCEPTIBILITY 3; PSORS3 3984 601455 "CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D; CMT4D" 3985 601457 "SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE" 3986 601462 "MYASTHENIC SYNDROME, CONGENITAL, SLOW-CHANNEL; SCCMS" 3987 601466 PATENT DUCTUS VENOSUS; PDV 3988 601471 "FACIAL PARESIS, HEREDITARY, CONGENITAL; HCFP1" 3989 601472 "CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D; CMT2D" 3990 601491 IMPRINTED IN PRADER-WILLI SYNDROME; IPW 3991 601492 HYALURONIDASE DEFICIENCY 3992 601494 "CARDIOMYOPATHY, DILATED, 1D; CMD1D" 3993 601495 "AGAMMAGLOBULINEMIA, NON-BRUTON TYPE, AUTOSOMAL RECESSIVE" 3994 601499 "RIEGER SYNDROME, TYPE 2; RIEG2" 3995 601518 "PROSTATE CANCER, HEREDITARY, 1; HPC1" 3996 601536 ATHABASKAN BRAINSTEM DYSGENESIS SYNDROME; ABSD 3997 601537 "MICROCEPHALY, RETINITIS PIGMENTOSA, AND SUTURAL CATARACT" 3998 601539 PEROXISOME BIOGENESIS DISORDERS; PBD 3999 601543 "DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 12; DFNA12" 4000 601544 "DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 3; DFNA3" 4001 601547 "CATARACT, CONGENITAL, CERULEAN TYPE, 2; CCA2" 4002 601549 ALACRIMA 4003 601552 "ECTOPIA LENTIS, SPONTANEOUS FILTERING BLEBS, AND CRANIOFACIAL DYSMORPHISM" 4004 601553 "HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY; HJMD" 4005 601559 STUVE-WIEDEMANN SYNDROME 4006 601560 MULTIPLE EPIPHYSEAL DYSPLASIA WITH ROBIN PHENOTYPE 4007 601561 DYSSEGMENTAL DYSPLASIA WITH GLAUCOMA 4008 601596 "CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C; CMT4C" 4009 601606 "TRICHOEPITHELIOMA, MULTIPLE FAMILIAL" 4010 601608 SPASTIC PARAPLEGIA AND EVANS SYNDROME 4011 601612 LUNG AGENESIS 4012 601616 IRIS PIGMENT EPITHELIUM ANOMALIES 4013 601626 "LEUKEMIA, ACUTE MYELOID; AML" 4014 601631 "IRIDOGONIODYSGENESIS, TYPE 1; IRID1" 4015 601634 "NEURAL TUBE DEFECTS, FOLATE-SENSITIVE" 4016 601635 MOVED TO 608317 4017 601650 PARAGANGLIOMAS 2; PGL2 4018 601665 "OBESITY LEANNESS, INCLUDED" 4019 601666 "DIABETES MELLITUS, INSULIN-DEPENDENT, 15; IDDM15" 4020 601668 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH ABNORMAL DENTITION 4021 601675 "TRICHOTHIODYSTROPHY, PHOTOSENSITIVE; TTDP ICHTHYOSIFORM ERYTHRODERMA WITH HAIR ABNORMALITY AND MENTAL AND GROWTH" 4022 601676 ACUTE INSULIN RESPONSE 4023 601678 "BARTTER SYNDROME, ANTENATAL, TYPE 1" 4024 601680 "ARTHROGRYPOSIS, DISTAL, TYPE 2B; DA2B" 4025 601682 "GLAUCOMA 1, OPEN ANGLE, C; GLC1C" 4026 601696 NOVELTY SEEKING PERSONALITY TRAIT 4027 601700 "SEBACEOUS GLAND HYPERPLASIA, FAMILIAL PRESENILE" 4028 601701 ARTHROGRYPOSIS AND ECTODERMAL DYSPLASIA 4029 601705 "T-CELL IMMUNODEFICIENCY, CONGENITAL ALOPECIA, AND NAIL DYSTROPHY" 4030 601706 YEMENITE DEAF-BLIND HYPOPIGMENTATION SYNDROME 4031 601707 "CRANIOFACIAL MALFORMATIONS, ASYMMETRIC, WITH POLYSYNDACTYLY AND ABNORMAL SKIN AND GUT DEVELOPMENT" 4032 601708 "SUPERIOR TRANSVERSE SCAPULAR LIGAMENT, CALCIFICATION OF, FAMILIAL" 4033 601709 QUEBEC PLATELET DISORDER; QPD 4034 601718 RETINITIS PIGMENTOSA 19; RP19 4035 601744 "SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 1; SLEB1 SYSTEMIC LUPUS ERYTHEMATOSUS, RESISTANCE TO, 1, INCLUDED" 4036 601759 PREAXIAL HALLUCAL POLYDACTYLY 4037 601764 "CONVULSIONS, BENIGN FAMILIAL INFANTILE, 1" 4038 601775 FOLATE LEVEL IN ERYTHROCYTES 4039 601776 ADDUCTED THUMB-CLUBFOOT SYNDROME 4040 601777 CONE-ROD DYSTROPHY 6; CORD6 4041 601779 MOVED TO 258450 4042 601780 "CEROID LIPOFUSCINOSIS, NEURONAL, 6; CLN6" 4043 601794 COLOBOMA-OBESITY-HYPOGENITALISM-MENTAL RETARDATION SYNDROME 4044 601800 "SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 3; SHEP3" 4045 601803 PALLISTER-KILLIAN SYNDROME; PKS 4046 601808 CHROMOSOME 18q DELETION SYNDROME 4047 601809 SPONDYLOSPINAL THORACIC DYSOSTOSIS 4048 601811 "PREMATURE AGING SYNDROME, OKAMOTO TYPE" 4049 601812 "PREMATURE AGING SYNDROME, PENTTINEN TYPE" 4050 601813 EXUDATIVE VITREORETINOPATHY 4; EVR4 4051 601815 PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY 4052 601816 "BILIRUBIN, ELEVATED CONCENTRATIONS OF, IN SERUM" 4053 601820 "HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2; HHF2" 4054 601829 "ACROFACIAL DYSOSTOSIS, PALAGONIA TYPE" 4055 601842 MOVED TO 601543 4056 601846 VACUOLAR NEUROMYOPATHY 4057 601847 "CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2; PFIC2" 4058 601849 MOVED TO 228930 4059 601853 CEREBELLOTRIGEMINAL DERMAL DYSPLASIA 4060 601859 AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME; ALPS 4061 601868 "DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 13; DFNA13" 4062 601869 "DEAFNESS, AUTOSOMAL RECESSIVE 15; DFNB15" 4063 601884 BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 1; BMND1 4064 601885 "CATARACT, ZONULAR PULVERULENT 3; CZP3" 4065 601887 "MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5" 4066 601888 "MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 6" 4067 601894 GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2 4068 601927 "LYMPHEDEMA, CARDIAC SEPTAL DEFECTS, AND CHARACTERISTIC FACIES" 4069 601941 "DIABETES MELLITUS, INSULIN-DEPENDENT, 6; IDDM6" 4070 601942 "DIABETES MELLITUS, INSULIN-DEPENDENT, 10; IDDM10" 4071 601952 KERATOSIS LINEARIS WITH ICHTHYOSIS CONGENITA AND SCLEROSING KERATODERMA 4072 601954 "MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2G; LGMD2G" 4073 601957 ODONTOTRICHOUNGUAL-DIGITAL-PALMAR SYNDROME 4074 601976 OTOFACIOOSSEOUS-GONADAL SYNDROME 4075 601977 "THROMBOCYTOSIS, BENIGN FAMILIAL MICROCYTIC" 4076 601979 HYPERZINCEMIA WITH FUNCTIONAL ZINC DEPLETION 4077 601992 FRIEDREICH ATAXIA 2 4078 602014 HYPOMAGNESEMIA WITH SECONDARY HYPOCALCEMIA; HOMG 4079 602032 "ECTODERMAL DYSPLASIA, 'PURE' HAIR-NAIL TYPE" 4080 602036 "ERYTHROKERATODERMIA, PROGRESSIVE SYMMETRIC" 4081 602066 "CONVULSIONS, FAMILIAL INFANTILE, WITH PAROXYSMAL CHOREOATHETOSIS; ICCA" 4082 602067 "CARDIOMYOPATHY, DILATED, 1F; CMD1F" 4083 602068 "LEISHMANIASIS, TEGUMENTARY" 4084 602071 "BROAD TERMINAL PHALANGES, FAMILIAL" 4085 602077 MOVED TO 604292 4086 602078 "FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 2; CFEOM2" 4087 602079 TRIMETHYLAMINURIA; TMAU 4088 602080 PAGET DISEASE OF BONE; PDB 4089 602081 SPEECH-LANGUAGE DISORDER 1; SPCH1 4090 602082 "CORNEAL DYSTROPHY OF BOWMAN LAYER, TYPE II; CDB2" 4091 602083 "USHER SYNDROME, TYPE IF; USH1F" 4092 602085 "POLYDACTYLY, POSTAXIAL, TYPE A2" 4093 602086 "ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 3; ARVD3" 4094 602087 "ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 4; ARVD4" 4095 602088 NEPHRONOPHTHISIS 2; NPHP2 4096 602089 "HEMANGIOMA, CAPILLARY INFANTILE" 4097 602092 "DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE 18; DFNB18" 4098 602093 CONE DYSTROPHY 3; COD3 4099 602096 ALZHEIMER DISEASE 5 4100 602097 "USHER SYNDROME, TYPE IE; USH1E" 4101 602099 AMYOTROPHIC LATERAL SCLEROSIS 5; ALS5 4102 602107 "NEUROPATHY, HEREDITARY THERMOSENSITIVE" 4103 602111 "SPONDYLOEPIMETAPHYSEAL DYSPLASIA, TYPE II" 4104 602124 "DYSTONIA 7, TORSION; DYT7" 4105 602134 "TREMOR, HEREDITARY ESSENTIAL, 2; ETM2" 4106 602152 RHYNS SYNDROME 4107 602196 PIERRE ROBIN SEQUENCE WITH PECTUS EXCAVATUM AND RIB AND SCAPULAR ANOMALIES 4108 602199 MEDIUM CHAIN 3-KETOACYL-CoA THIOLASE DEFICIENCY 4109 602200 VENTRICULOMEGALY WITH DEFECTS OF THE RADIUS AND KIDNEY 4110 602247 "XANTHOMATOSIS, SUSCEPTIBILITY TO" 4111 602248 MALIGNANT ATROPHIC PAPULOSIS 4112 602249 PROGEROID FACIAL APPEARANCE WITH HAND ANOMALIES 4113 602254 HEPATOCELLULAR CARCINOMA COMPLICATING HEMOCHROMATOSIS 4114 602271 "SPONDYLOMETAPHYSEAL DYSPLASIA, AXIAL" 4115 602340 "SENSORINEURAL HEARING LOSS, RETINAL PIGMENT EPITHELIUM LESIONS, DISCOLORED TEETH" 4116 602342 "PLANTAR LIPOMATOSIS, UNUSUAL FACIES, AND DEVELOPMENTAL DELAY" 4117 602347 "CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3; PFIC3" 4118 602361 GRACILE BONE DYSPLASIA 4119 602390 "HEMOCHROMATOSIS, JUVENILE; JH" 4120 602398 DESMOSTEROLOSIS 4121 602400 "ICHTHYOSIS, FOLLICULAR ATROPHODERMA, HYPOTRICHOSIS, AND HYPOHIDROSIS" 4122 602401 "ECTODERMAL DYSPLASIA, HIDROTIC, AUTOSOMAL RECESSIVE" 4123 602404 "PARKINSON DISEASE 3, AUTOSOMAL DOMINANT LEWY BODY; PARK3" 4124 602409 "MYELOID/LYMPHOID OR MIXED LINEAGE LEUKEMIA, TRANSLOCATED TO, 10; MLLT10" 4125 602418 WEYERS ULNAR RAY/OLIGODACTYLY SYNDROME 4126 602433 "AMYOTROPHIC LATERAL SCLEROSIS 4, JUVENILE; ALS4" 4127 602439 "ACUTE MYELOGENOUS LEUKEMIA ACUTE MYELOID LEUKEMIA CHROMOSOME REGION 2, INCLUDED; AMLCR2, INCLUDED" 4128 602440 "AMYOTROPHY, MONOMELIC" 4129 602450 SEVERE COMBINED IMMUNODEFICIENCY WITH SENSITIVITY TO IONIZING RADIATION 4130 602459 "DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 15; DFNA15" 4131 602471 "SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES" 4132 602473 "ENCEPHALOPATHY, ETHYLMALONIC" 4133 602475 OSSIFICATION OF THE POSTERIOR LONGITUDINAL LIGAMENT OF SPINE; OPLL 4134 602481 "MIGRAINE, FAMILIAL HEMIPLEGIC, 2; FHM2" 4135 602482 AXENFELD-RIEGER ANOMALY WITH CARDIAC DEFECTS AND SENSORINEURAL HEARING LOSS 4136 602483 AURICULOCONDYLAR SYNDROME 4137 602484 PELVIC HYPOPLASIA WITH LOWER-LIMB ARTHROGRYPOSIS 4138 602485 "HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3; HHF3" 4139 602491 "HYPERLIPIDEMIA, COMBINED, 1" 4140 602497 "CHONDRODYSPLASIA PUNCTATA, BRACHYTELEPHALANGIC, AUTOSOMAL" 4141 602499 "MACROPHTHALMIA, COLOBOMATOUS, WITH MICROCORNEA; MACOM" 4142 602501 MEGALENCEPHALY-CUTIS MARMORATA TELANGIECTATICA CONGENITA 4143 602511 PSEUDOACROMEGALY WITH SEVERE INSULIN RESISTANCE 4144 602522 "BARTTER SYNDROME, INFANTILE, WITH SENSORINEURAL DEAFNESS" 4145 602523 DOWN SYNDROME CELL ADHESION MOLECULE; DSCAM 4146 602535 MARSHALL-SMITH SYNDROME 4147 602540 "ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS" 4148 602541 "MUSCULAR DYSTROPHY, CONGENITAL, MEGACONIAL TYPE" 4149 602551 JEJUNAL ATRESIA WITH RENAL ADYSPLASIA 4150 602553 "ANAL ATRESIA, HYPOSPADIAS, AND PENOSCROTAL INVERSION" 4151 602554 TORSION DYSTONIA WITH ONSET IN INFANCY 4152 602555 "MICROCEPHALY, MACROTIA, AND MENTAL RETARDATION" 4153 602556 "FACIAL DYSMORPHISM, CLEFT PALATE, HEARING LOSS, AND CAMPTODACTYLY" 4154 602557 "SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SHOHAT TYPE" 4155 602558 CRANIOMICROMELIC SYNDROME 4156 602561 "BRACHYDACTYLY, INTRAVENTRICULAR SEPTAL DEFECT, AND DEAFNESS" 4157 602562 MANDIBULOFACIAL DYSOSTOSIS WITH MACROBLEPHARON AND MACROSTOMIA 4158 602564 "EMPHYSEMA, CONGENITAL, WITH DEAFNESS, PENOSCROTAL WEB, AND MENTAL RETARDATION" 4159 602579 "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ib; CDG1B" 4160 602585 MICROCEPHALY AND DIGITAL ABNORMALITIES WITH NORMAL INTELLIGENCE 4161 602588 BRANCHIOOTIC SYNDROME 1; BOS1 4162 602594 RETINITIS PIGMENTOSA 22; RP22 4163 602596 "PANCREATIC LYMPHOMA, FAMILIAL" 4164 602611 "SPONDYLOEPIPHYSEAL DYSPLASIA WITH CORONAL CRANIOSYNOSTOSIS, CATARACTS, CLEFT PALATE, AND MENTAL RETARDATION" 4165 602612 "CAMPTODACTYLY, MYOPIA, AND FIBROSIS OF THE MEDIAL RECTUS MUSCLE OF EYE" 4166 602613 "SKELETAL DYSPLASIA AND PROGRESSIVE CENTRAL NERVOUS SYSTEM DEGENERATION, LETHAL" 4167 602629 "DYSTONIA 6, TORSION; DYT6" 4168 602639 "TOOTH AGENESIS, SELECTIVE, 2; STHAG2" 4169 602668 DYSTROPHIA MYOTONICA 2; DM2 4170 602685 "MENTAL RETARDATION, SEVERE, WITH SPASTICITY AND PIGMENTARY TAPETORETINAL DEGENERATION" 4171 602722 "RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE; RTADR" 4172 602723 PSORIASIS SUSCEPTIBILITY 2; PSORS2 4173 602771 RIGID SPINE MUSCULAR DYSTROPHY 1; RSMD1 4174 602772 RETINITIS PIGMENTOSA 25; RP25 4175 602782 HISTIOCYTOSIS WITH JOINT CONTRACTURES AND SENSORINEURAL DEAFNESS 4176 602849 MUENKE SYNDROME 4177 602875 "ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE; AMDM ST. HELENA DYSPLASIA, INCLUDED" 4178 602952 WOLF-HIRSCHHORN SYNDROME CANDIDATE 1; WHSC1 4179 602966 OROFACIAL CLEFT 2; OFC2 4180 603003 BILE DUCT CYSTS 4181 603010 "DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE 17; DFNB17" 4182 603013 SCHIZOPHRENIA 6; SCZD6 4183 603034 ENDPLATE ACETYLCHOLINESTERASE DEFICIENCY; EAD 4184 603041 MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME; MNGIE 4185 603047 ASTIGMATISM 4186 603096 MOVED TO 262300 4187 603098 "DEAFNESS, AUTOSOMAL RECESSIVE 13; DFNB13" 4188 603116 CDAGS SYNDROME 4189 603117 "SPASTIC PARAPLEGIA, OPTIC ATROPHY, MICROCEPHALY, AND XY SEX REVERSAL" 4190 603119 APRAXIA OF EYELID OPENING 4191 603133 "DISLOCATED ELBOWS, BOWED TIBIAS, SCOLIOSIS, DEAFNESS, CATARACT, MICROCEPHALY, AND MENTAL RETARDATION" 4192 603147 "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ic; CDG1C" 4193 603165 "DERMATITIS, ATOPIC" 4194 603174 HOMOCYSTEINEMIA 4195 603175 SCHIZOPHRENIA 5; SCZD5 4196 603176 SCHIZOPHRENIA 7; SCZD7 4197 603188 "OBESITY, SUSCEPTIBILITY TO, ON CHROMOSOME 10p; OB10P" 4198 603194 "MECKEL SYNDROME, TYPE 2; MKS2" 4199 603204 "EPILEPSY, NOCTURNAL FRONTAL LOBE, TYPE 2" 4200 603206 SCHIZOPHRENIA 8; SCZD8 4201 603218 HUNTINGTON DISEASE-LIKE 1; HDL1 4202 603221 MYOPIA 3; MYP3 4203 603233 "PSEUDOHYPOPARATHYROIDISM, TYPE IB" 4204 603266 "DIABETES MELLITUS, INSULIN-DEPENDENT, 17; IDDM17" 4205 603278 FOCAL SEGMENTAL GLOMERULOSCLEROSIS 1; FSGS1 4206 603280 MOVED TO 157640 4207 603323 "MUSCULAR DYSTROPHY, CONGENITAL, WITH CEREBELLAR ATROPHY" 4208 603358 GRACILE SYNDROME 4209 603373 "HYPERTHYROIDISM, FAMILIAL GESTATIONAL" 4210 603376 "LONG CHAIN FATTY ACIDS, DEFECT IN TRANSPORT OF" 4211 603386 "THYROID CARCINOMA, NONMEDULLARY, WITH OR WITHOUT CELL OXYPHILIA" 4212 603387 "MEGALENCEPHALY, MEGA CORPUS CALLOSUM, AND COMPLETE LACK OF MOTOR DEVELOPMENT" 4213 603388 "GRAVES DISEASE, SUSCEPTIBILITY TO, 2" 4214 603389 OSEBOLD SKELETAL DYSPLASIA/OSTEOLYSIS SYNDROME 4215 603391 "LARYNGOTRACHEAL STENOSIS, PROGRESSIVE, WITH SHORT STATURE AND ARTHROPATHY" 4216 603393 "OSTEOSCLEROTIC CHONDRODYSPLASIA, LETHAL, WITH INTRACELLULAR INCLUSIONS" 4217 603394 "MICROCEPHALY, SEVERE, WITH SKELETAL ANOMALIES INCLUDING POSTERIOR RIB-GAP DEFECTS" 4218 603396 TONOKI SYNDROME 4219 603431 WILLIAMS-BEUREN SYNDROME CHROMOSOME REGION 1; WBSCR1 4220 603438 "RADIOULNAR SYNOSTOSIS WITH MICROCEPHALY, SHORT STATURE, SCOLIOSIS, AND MENTAL RETARDATION" 4221 603439 EXPANSILE BONE LESIONS 4222 603446 "OROACRAL SYNDROME, VERLOES-KOULISCHER TYPE" 4223 603457 "ARHINIA, CHOANAL ATRESIA, AND MICROPHTHALMIA" 4224 603463 "HYPOSPADIAS, HYPERTELORISM, UPPER LID COLOBOMA, AND MIXED-TYPE HEARING LOSS" 4225 603471 "CITRULLINEMIA, TYPE II, ADULT-ONSET; CTLN2" 4226 603511 "MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1D; LGMD1D" 4227 603513 "CEREBRAL PALSY, SPASTIC, SYMMETRIC, AUTOSOMAL RECESSIVE" 4228 603516 SPINOCEREBELLAR ATAXIA 10; SCA10 4229 603523 "CHYLOTHORAX, CONGENITAL" 4230 603528 "DEHYDRATED HEREDITARY STOMATOCYTOSIS, PSEUDOHYPERKALEMIA, AND PERINATAL EDEMA" 4231 603529 "DYSERYTHROPOIESIS, CONGENITAL, WITH INTERNUCLEAR CHROMATIN BRIDGES AND ULTRASTRUCTURALLY NORMAL ERYTHROBLAST HETEROCHROMATIN" 4232 603530 LIGHT FIXATION SEIZURE SYNDROME 4233 603543 LIMB-MAMMARY SYNDROME; LMS 4234 603545 MOVED TO 600791 4235 603546 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH MULTIPLE DISLOCATIONS 4236 603552 "HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL4" 4237 603553 "HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2; FHL2" 4238 603554 OMENN SYNDROME 4239 603563 "SPASTIC PARAPLEGIA 8, AUTOSOMAL DOMINANT; SPG8" 4240 603569 "TRACHEOBRONCHIAL STENOSIS, CONGENITAL" 4241 603572 "MICROCEPHALY, FACIAL ABNORMALITIES, MICROMELIA, AND MENTAL RETARDATION" 4242 603585 "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIf; CDG2F" 4243 603587 "FOLLICULAR ATROPHODERMA, PERIORAL PIGMENTED, WITH MILIA AND EPIDERMOID CYSTS" 4244 603588 "PAROTITIS, JUVENILE RECURRENT" 4245 603589 "FACIAL DYSMORPHISM, SELECTIVE TOOTH AGENESIS, AND CHOROID CALCIFICATION" 4246 603595 CRANIOSYNOSTOSIS WITH ECTOPIA LENTIS 4247 603596 POLYDACTYLY 4248 603600 "OSTEOMA OF CRANIAL VAULT, FAMILIAL" 4249 603622 "DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 17; DFNA17 COCHLEOSACCULAR DEGENERATION, INCLUDED" 4250 603629 "DEAFNESS, AUTOSOMAL RECESSIVE 21; DFNB21" 4251 603641 "NEUROENDOCRINE CARCINOMA OF SALIVARY GLANDS, SENSORINEURAL HEARING LOSS, AND ENAMEL HYPOPLASIA" 4252 603642 "ATRIAL SEPTAL DEFECT, SECUNDUM, WITH VARIOUS CARDIAC AND NONCARDIAC DEFECTS" 4253 603643 SITUS INVERSUS TOTALIS WITH CYSTIC DYSPLASIA OF KIDNEYS AND PANCREAS 4254 603649 CONE-ROD DYSTROPHY 7; CORD7 4255 603656 "EXOSTOSIS, DUPUYTREN SUBUNGUAL" 4256 603669 ECCRINE SYRINGOFIBROADENOMATOSIS WITH EYELID ABNORMALITIES 4257 603670 "BLUE NEVI, FAMILIAL MULTIPLE" 4258 603671 ACROMELIC FRONTONASAL DYSOSTOSIS 4259 603678 "DEAFNESS, AUTOSOMAL RECESSIVE 14; DFNB14" 4260 603688 PROSTATE CANCER/BRAIN CANCER SUSCEPTIBILITY 4261 603689 HEREDITARY MYOPATHY WITH EARLY RESPIRATORY FAILURE; HMERF 4262 603694 "DIABETES MELLITUS, NONINSULIN-DEPENDENT, 3" 4263 603720 "DEAFNESS, AUTOSOMAL RECESSIVE 16; DFNB16" 4264 603736 YOUNG-SIMPSON SYNDROME 4265 603737 OVARIAN GERM CELL CANCER 4266 603740 "ACRODYSPLASIA WITH OSSIFICATION ABNORMALITIES, SHORT STATURE, AND FIBULAR HYPOPLASIA" 4267 603744 PAPILLARY THYROID MICROCARCINOMA 4268 603776 "HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3; HCHOLA3" 4269 603786 STARGARDT DISEASE 4; STGD4 4270 603794 "HYDROA VACCINIFORME, FAMILIAL" 4271 603802 MICROCEPHALY WITH SIMPLIFIED GYRAL PATTERN 4272 603806 "URINARY TRACT INFECTIONS, RECURRENT, SUSCEPTIBILITY TO" 4273 603807 PETERS ANOMALY WITH CATARACT 4274 603813 "HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE; ARH" 4275 603828 BRITTLE BONE DISORDER 4276 603829 "VENTRICULAR FIBRILLATION, PAROXYSMAL FAMILIAL; VF" 4277 603830 LONG QT SYNDROME 3; LQT3 4278 603860 MEDULLARY CYSTIC KIDNEY DISEASE 2; MCKD2 4279 603896 LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER; VWM 4280 603902 "BETA THALASSEMIA, DOMINANT INCLUSION BODY TYPE" 4281 603903 SICKLE CELL ANEMIA 4282 603909 "AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIA; ALPS2A" 4283 603918 "HYPERTENSION, ESSENTIAL, SUSCEPTIBILITY TO, 1" 4284 603932 INTERVERTEBRAL DISC DISEASE; IDD 4285 603933 "DIABETIC NEPHROPATHY, SUSCEPTIBILITY TO" 4286 603935 PSORIASIS SUSCEPTIBILITY 4; PSORS4 4287 603956 CERVICAL CANCER 4288 603964 "DEAFNESS, AUTOSOMAL DOMINANT 16; DFNA16" 4289 604004 MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS; MLC 4290 604060 "DEAFNESS, AUTOSOMAL RECESSIVE 20; DFNB20" 4291 604091 "HYPOALPHALIPOPROTEINEMIA, PRIMARY" 4292 604093 KERATOSIS PILARIS 4293 604116 CONE-ROD DYSTROPHY 3; CORD3 4294 604117 "VOHWINKEL SYNDROME, VARIANT FORM" 4295 604121 "CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY" 4296 604129 EPIDERMOLYSIS BULLOSA PRURIGINOSA 4297 604131 THALASSEMIAS 4298 604145 "CARDIOMYOPATHY, DILATED, 1G; CMD1G" 4299 604168 "CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY" 4300 604169 "NONCOMPACTION OF LEFT VENTRICULAR MYOCARDIUM, FAMILIAL ISOLATED, AUTOSOMAL DOMINANT 1; LVNC1" 4301 604173 POIKILODERMA WITH NEUTROPENIA; PN 4302 604183 "CHOLESTEATOMA, CONGENITAL" 4303 604185 "FACIAL PARESIS, HEREDITARY, CONGENITAL; HCFP2" 4304 604187 "SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT; SPG10" 4305 604201 "HEPATIC FIBROSIS, SEVERE, SUSCEPTIBILITY TO, DUE TO SCHISTOSOMA MANSONI INFECTION" 4306 604213 CHUDLEY-MCCULLOUGH SYNDROME 4307 604218 "ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES; FENIB" 4308 604219 "CATARACT, AUTOSOMAL DOMINANT" 4309 604228 MOVED TO 607624 4310 604229 PETERS ANOMALY 4311 604232 "LEBER CONGENITAL AMAUROSIS, TYPE III" 4312 604233 GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS; GEFS+ 4313 604250 "HEMOCHROMATOSIS, TYPE 3; HFE3" 4314 604254 "DYSLEXIA, SUSCEPTIBILITY TO, 3; DYX3" 4315 604257 CAMERA-MARUGO-COHEN SYNDROME 4316 604271 "SHORT STATURE, IDIOPATHIC, AUTOSOMAL" 4317 604273 ATPAF2 DEFICIENCY 4318 604278 "RENAL TUBULAR ACIDOSIS, PROXIMAL, WITH OCULAR ABNORMALITIES AND MENTAL RETARDATION" 4319 604284 MOVED TO 137920 4320 604286 "MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2E; LGMD2E" 4321 604287 CARNEY TRIAD 4322 604288 "CARDIOMYOPATHY, DILATED, 1H; CMD1H" 4323 604290 ACERULOPLASMINEMIA 4324 604291 "ASCARIS LUMBRICOIDES INFECTION, SUSCEPTIBILITY TO" 4325 604292 "ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3; EEC3" 4326 604302 "RHEUMATOID ARTHRITIS, SYSTEMIC JUVENILE" 4327 604307 "CATARACT, COPPOCK-LIKE; CCL" 4328 604308 MASS SYNDROME 4329 604314 BLEPHAROPHIMOSIS WITH FACIAL AND GENITAL ANOMALIES AND MENTAL RETARDATION 4330 604315 "ANEMIA, CONGENITAL HYPOPLASTIC, WITH MULTIPLE CONGENITAL ANOMALIES/MENTAL RETARDATION SYNDROME" 4331 604316 PSORIASIS SUSCEPTIBILITY 5; PSORS5 4332 604317 "MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 2; MCPH2" 4333 604320 "SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 1; DSMA1" 4334 604321 "MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 4; MCPH4" 4335 604324 "ACNE, ADULT" 4336 604326 SPINOCEREBELLAR ATAXIA 12; SCA12 4337 604329 "HYPERTENSION, ESSENTIAL, SUSCEPTIBILITY TO, 2" 4338 604335 REFLEX SYMPATHETIC DYSTROPHY 4339 604348 "ADVANCED SLEEP-PHASE SYNDROME, FAMILIAL" 4340 604352 "FEBRILE CONVULSIONS, FAMILIAL, 4; FEB4" 4341 604356 DUANE RETRACTION SYNDROME 2 4342 604360 "SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE; SPG11" 4343 604363 "MYOCLONIC EPILEPSY, CONGENITAL DEAFNESS, MACULAR DYSTROPHY, AND PSYCHIATRIC DISORDERS" 4344 604364 "EPILEPSY, PARTIAL, WITH VARIABLE FOCI" 4345 604367 "LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3; FPLD3" 4346 604369 "SIALURIA, FINNISH TYPE" 4347 604370 "OVARIAN CANCER, EPITHELIAL" 4348 604377 "CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY" 4349 604379 "HYPOTRICHOSIS, AUTOSOMAL RECESSIVE; AH" 4350 604380 ULNAR RAY DYSGENESIS WITH POSTAXIAL POLYDACTYLY AND RENAL CYSTIC DYSPLASIA 4351 604381 PATENT DUCTUS ARTERIOSUS AND BICUSPID AORTIC VALVE WITH HAND ANOMALIES 4352 604382 "LISSENCEPHALY, FAMILIAL, WITH CLEFT PALATE AND CEREBELLAR HYPOPLASIA" 4353 604387 NEPHRONOPHTHISIS 3; NPHP3 4354 604391 ATAXIA-TELANGIECTASIA-LIKE DISORDER; ATLD 4355 604393 "LEBER CONGENITAL AMAUROSIS, TYPE IV; LCA4" 4356 604400 "ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5; ARVD5" 4357 604401 "ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 6" 4358 604412 T-CELL LEUKEMIA/LYMPHOMA 6; TCL6 4359 604416 "PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE" 4360 604431 "POLYNEUROPATHY, LETHAL NEONATAL, AXONAL SENSORIMOTOR, AUTOSOMAL RECESSIVE" 4361 604432 SPINOCEREBELLAR ATAXIA 11; SCA11 4362 604442 NONPAPILLARY RENAL CARCINOMA 1 4363 604451 "BASAL CELL CARCINOMA, INFUNDIBULOCYSTIC" 4364 604454 WELANDER DISTAL MYOPATHY; WDM 4365 604474 "HUMAN HERPESVIRUS TYPE 6, INTEGRATED" 4366 604484 "NEUROPATHY, HEREDITARY MOTOR AND SENSORY, OKINAWA TYPE" 4367 604498 "AMEGAKARYOCYTIC THROMBOCYTOPENIA, CONGENITAL; CAMT" 4368 604499 "HYPERLIPIDEMIA, COMBINED, 2" 4369 604519 INFLAMMATORY BOWEL DISEASE 3; IBD3 4370 604536 ECTODERMAL DYSPLASIA/SKIN FRAGILITY SYNDROME 4371 604537 "LEBER CONGENITAL AMAUROSIS, TYPE V; LCA5" 4372 604547 VAN DER WOUDE SYNDROME MODIFIER 4373 604559 "PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IB; PFHB1B" 4374 604563 "CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B2; CMT4B2" 4375 604571 "BARE LYMPHOCYTE SYNDROME, TYPE I" 4376 604622 "AORTIC ANEURYSM, GIANT CONGENITAL" 4377 604625 "TOOTH AGENESIS, SELECTIVE, 3; STHAG3" 4378 604690 "GROWTH AND DEVELOPMENTAL RETARDATION, OCULAR PTOSIS, CARDIAC DEFECT, AND ANAL ATRESIA" 4379 604704 BREAST CANCER ANTIESTROGEN RESISTANCE 3; BCAR3 4380 604709 T-CELL LYMPHOMA INVASION AND METASTASIS 2; TIAM2 4381 604715 ORTHOSTATIC INTOLERANCE 4382 604717 "DEAFNESS, AUTOSOMAL DOMINANT 20; DFNA20" 4383 604757 "CRANIOSYNOSTOSIS, TYPE 2; CRS2" 4384 604765 "CARDIOMYOPATHY, DILATED, 1I; CMD1I" 4385 604772 "VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1; CPVT1" 4386 604777 "ICHTHYOSIS, LAMELLAR, 3; LI3" 4387 604781 "ICHTHYOSIS, NONLAMELLAR AND NONERYTHRODERMIC, CONGENITAL, AUTOSOMAL RECESSIVE; NNCI" 4388 604801 "MUSCULAR DYSTROPHY, CONGENITAL, 1B" 4389 604802 HUNTINGTON DISEASE-LIKE 3; HDL3 4390 604804 "MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 3; MCPH3" 4391 604805 "SPASTIC PARAPLEGIA 12, AUTOSOMAL DOMINANT; SPG12" 4392 604809 "PANBRONCHIOLITIS, DIFFUSE" 4393 604827 "MYOCLONIC EPILEPSY, JUVENILE, 2; EJM2" 4394 604830 "MANDIBULOFACIAL DYSOSTOSIS SYNDROME, BAURU TYPE" 4395 604841 "STICKLER SYNDROME, TYPE II; STL2" 4396 604855 "HYALURONAN METABOLISM, DEFECT IN" 4397 604856 LANGERHANS CELL HISTIOCYTOSIS 4398 604864 OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA 4399 604901 NORTH AMERICAN INDIAN CHILDHOOD CIRRHOSIS; NAIC 4400 604906 SCHIZOPHRENIA 9; SCZD9 4401 604916 "HYDRONEPHROSIS, CONGENITAL, WITH CLEFT PALATE, CHARACTERISTIC FACIES, HYPOTONIA, AND MENTAL RETARDATION" 4402 604919 BECKER NEVUS SYNDROME 4403 604922 "CORTICAL DEFECTS, WORMIAN BONES, AND DENTINOGENESIS IMPERFECTA" 4404 604928 WOLFRAM SYNDROME 2; WFS2 4405 604929 "EMERY-DREIFUSS MUSCULAR DYSTROPHY, AUTOSOMAL RECESSIVE; EDMD3" 4406 604931 CORTISONE REDUCTASE DEFICIENCY 4407 605013 MICROHYDRANENCEPHALY; MHAC 4408 605019 "HYPOBETALIPOPROTEINEMIA, FAMILIAL, 2" 4409 605021 "MYOCLONIC EPILEPSY, INFANTILE" 4410 605026 "DIABETES MELLITUS, CONGENITAL AUTOIMMUNE" 4411 605027 "LYMPHOMA, NON-HODGKIN, FAMILIAL" 4412 605039 C-LIKE SYNDROME 4413 605040 "CLAVICULAR HYPOPLASIA, ZYGOMATIC ARCH HYPOPLASIA, AND MICROGNATHIA" 4414 605041 SPIEGLER-BROOKE SYNDROME 4415 605055 "ALZHEIMER DISEASE, FAMILIAL EARLY-ONSET, WITH COEXISTING AMYLOID AND PRION PATHOLOGY" 4416 605067 TRICUSPID ATRESIA 4417 605074 "RENAL CELL CARCINOMA, PAPILLARY" 4418 605075 "RENAL CELL CARCINOMA, PAPILLARY, 3" 4419 605089 MITOCHONDRIAL RIBOSOMAL PROTEIN L40; MRPL40 4420 605115 "HYPERTENSION, EARLY-ONSET, AUTOSOMAL DOMINANT, WITH SEVERE EXACERBATION IN PREGNANCY" 4421 605130 GROWTH DEFICIENCY AND MENTAL RETARDATION WITH FACIAL DYSMORPHISM 4422 605156 "MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY; MONA" 4423 605192 "DEAFNESS, AUTOSOMAL DOMINANT 23; DFNA23" 4424 605201 HIGH DENSITY LIPOPROTEIN DEFICIENCY 3 4425 605203 "MULTIPLE PTERYGIUM SYNDROME, ASLAN TYPE" 4426 605218 "SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 2; SLEB2" 4427 605225 INFLAMMATORY BOWEL DISEASE 7; IBD7 4428 605229 "SPASTIC PARAPLEGIA 14, AUTOSOMAL RECESSIVE; SPG14" 4429 605233 DIANZANI AUTOIMMUNE LYMPHOPROLIFERATIVE DISEASE 4430 605249 SEBASTIAN SYNDROME; SBS 4431 605253 "NEUROPATHY, CONGENITAL HYPOMYELINATING" 4432 605258 "IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 2" 4433 605259 SPINOCEREBELLAR ATAXIA 13; SCA13 4434 605274 "MESOMELIC DYSPLASIA, SAVARIRAYAN TYPE" 4435 605275 NOONAN SYNDROME 2 4436 605280 "SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT; SPG13" 4437 605282 TEMTAMY PREAXIAL BRACHYDACTYLY SYNDROME 4438 605285 "NEUROPATHY, HEREDITARY MOTOR AND SENSORY, RUSSE TYPE" 4439 605288 PRIMORDIAL GERM CELL TUMOR SUSCEPTIBILITY LOCUS 1 4440 605289 SPLIT-HAND/FOOT MALFORMATION 4; SHFM4 4441 605293 OPTIC ATROPHY 4; OPA4 4442 605309 MACROCEPHALY/AUTISM SYNDROME 4443 605311 "ARTHROGRYPOSIS, DISTAL, WITH PECULIAR FACIES AND HYDRONEPHROSIS" 4444 605316 "DEAFNESS, CONGENITAL NEUROSENSORY, AUTOSOMAL RECESSIVE 10; DFNB10" 4445 605321 FRONTOOCULAR SYNDROME 4446 605339 "FRAGILE X MENTAL RETARDATION, AUTOSOMAL HOMOLOG 2; FXR2" 4447 605355 NEMALINE MYOPATHY 5; NEM5 4448 605361 SPINOCEREBELLAR ATAXIA 14; SCA14 4449 605362 "CARDIOMYOPATHY, DILATED, 1J; CMD1J" 4450 605364 PSORIASIS SUSCEPTIBILITY 6 4451 605373 PARAGANGLIOMAS 3; PGL3 4452 605375 "EPILEPSY, NOCTURNAL FRONTAL LOBE, TYPE 3" 4453 605376 "HETEROTAXY, VISCERAL, 2, AUTOSOMAL" 4454 605387 "CATARACT, POSTERIOR POLAR, 3; CTPP3" 4455 605388 "CEREBRAL PALSY, ATAXIC, AUTOSOMAL RECESSIVE" 4456 605389 HYPOTRICHOSIS SIMPLEX 4457 605400 "FIBROMATOSIS, GINGIVAL, WITH HYPERTRICHOSIS AND MENTAL RETARDATION" 4458 605407 "SEGAWA SYNDROME, AUTOSOMAL RECESSIVE" 4459 605419 SCHIZOPHRENIA 10; SCZD10 4460 605428 "DEAFNESS, AUTOSOMAL RECESSIVE 26; DFNB26" 4461 605432 RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 4462 605462 "BASAL CELL CARCINOMA, MULTIPLE BASAL CELL CARCINOMA CAUSED BY SOMATIC MUTATION, INCLUDED" 4463 605463 "RADIATION SENSITIVITY/CHROMOSOME INSTABILITY SYNDROME, AUTOSOMAL DOMINANT" 4464 605472 "USHER SYNDROME, TYPE IIC; USH2C" 4465 605479 "CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC 2" 4466 605480 "SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 3; SLEB3" 4467 605526 ALZHEIMER DISEASE 6 4468 605549 CONE-ROD DYSTROPHY 8; CORD8 4469 605552 ABDOMINAL OBESITY-METABOLIC SYNDROME 4470 605572 ABDOMINAL OBESITY-METABOLIC SYNDROME QUANTITATIVE TRAIT LOCUS 2 4471 605582 "CARDIOMYOPATHY, DILATED, 1K; CMD1K" 4472 605583 "DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 25; DFNA25" 4473 605588 "CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B1" 4474 605589 "CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B2; CMT2B2" 4475 605594 "DEAFNESS, AUTOSOMAL DOMINANT 39, WITH DENTINOGENESIS IMPERFECTA 1" 4476 605606 PSORIASIS SUSCEPTIBILITY 7 4477 605617 MOVED TO 220600 4478 605618 "TETRALOGY OF FALLOT SYNDROME, AUTOSOMAL RECESSIVE" 4479 605627 CEREBROOCULONASAL SYNDROME 4480 605635 "HYPERALDOSTERONISM, FAMILIAL, TYPE II" 4481 605637 "INCLUSION BODY MYOPATHY 3, AUTOSOMAL DOMINANT; IBM3" 4482 605642 "THYROID CARCINOMA, PAPILLARY, WITH PAPILLARY RENAL NEOPLASIA" 4483 605670 LATE-ONSET RETINAL DEGENERATION; LORD 4484 605672 CEREBELLAR ATAXIA AND HYPERGONADOTROPIC HYPOGONADISM 4485 605676 "CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR AND KERATODERMA" 4486 605678 WILLIAMS-BEUREN SYNDROME CHROMOSOME REGION 14; WBSCR14 4487 605685 "CUTIS VERTICIS GYRATA, RETINITIS PIGMENTOSA, AND SENSORINEURAL DEAFNESS" 4488 605711 MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 4489 605714 "AMYLOIDOSIS, CEREBROARTERIAL, HEREDITARY, IOWA TYPE OCCIPITAL CALCIFICATIONS, FAMILIAL, WITH HEMORRHAGIC STROKES, LEUKOENCEPHALOPATHY," 4490 605719 WILLIAMS-BEUREN SYNDROME CHROMOSOME REGION 5; WBSCR5 4491 605724 "FANCONI ANEMIA, COMPLEMENTATION GROUP D1; FANCD1" 4492 605726 "SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 2; DSMA2" 4493 605727 OTOSCLEROSIS 2; OTSC2 4494 605728 "CATARACT, CENTRAL SACCULAR, WITH SUTURAL OPACITIES" 4495 605735 PROSTAGLANDIN-ENDOPEROXIDE SYNTHASE DEFICIENCY 4496 605746 ANISOMASTIA 4497 605749 "CATARACT, AUTOSOMAL RECESSIVE, EARLY-ONSET, PULVERULENT" 4498 605750 EXUDATIVE VITREORETINOPATHY 3; EVR3 4499 605751 "CONVULSIONS, BENIGN FAMILIAL INFANTILE, 2" 4500 605756 "GONADAL DYSGENESIS, HYPERGONADOTROPIC, XX TYPE, SHORT STATURE, AND RECURRENT METABOLIC ACIDOSIS" 4501 605779 "NAIL DYSPLASIA, ISOLATED CONGENITAL" 4502 605804 "DERMATITIS, ATOPIC, 3; ATOD3" 4503 605805 "DERMATITIS, ATOPIC, 4; ATOD4" 4504 605808 BIRDSHOT CHORIORETINOPATHY 4505 605809 "MYASTHENIA, FAMILIAL INFANTILE, 1" 4506 605814 "CITRULLINEMIA, TYPE II, NEONATAL-ONSET" 4507 605818 "DEAFNESS, AUTOSOMAL RECESSIVE 27; DFNB27" 4508 605820 NONAKA MYOPATHY; NM 4509 605822 "SPONDYLOOCULAR SYNDROME, AUTOSOMAL RECESSIVE" 4510 605833 BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 2; BMND2 4511 605838 BABY RATTLE PELVIS DYSPLASIA 4512 605839 "LEIOMYOMATOSIS AND RENAL CELL CANCER, HEREDITARY" 4513 605841 NARCOLEPSY 2 4514 605844 "DERMATITIS, ATOPIC, 5; ATOD5" 4515 605850 DIMETHYLGLYCINE DEHYDROGENASE DEFICIENCY; DMGDHD 4516 605856 "SHORT STATURE, MENTAL RETARDATION, CALLOSAL AGENESIS, HEMINASAL HYPOPLASIA, MICROPHTHALMIA, AND ATYPICAL CLEFTING" 4517 605871 MOVED TO 193090 4518 605899 GLYCINE ENCEPHALOPATHY; GCE 4519 605911 "3-@HYDROXY-3-METHYLGLUTARYL-CoA SYNTHASE 2, MITOCHONDRIAL, DEFICIENCY OF" 4520 605913 "BLEEDING DISORDER, EAST TEXAS TYPE" 4521 605934 HOLOPROSENCEPHALY 6 4522 605935 "ARTHROPATHY, EROSIVE" 4523 605945 CRUMPLED HELICES AND SMALL MOUTH 4524 605946 "METAPHYSEAL DYSPLASIA, BRAUN-TINSCHERT TYPE" 4525 605967 ACROPECTORAL SYNDROME 4526 605982 FAMILIAL WILMS TUMOR 2 4527 606002 "SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1; SCAR1" 4528 606003 TRANSALDOLASE DEFICIENCY 4529 606012 "DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 18; DFNA18" 4530 606035 FASTING GLUCOSE AND SPECIFIC INSULIN LEVELS 4531 606044 SJOGREN SYNDROME/SCLERODERMA AUTOANTIGEN 1; SSSCA1 4532 606049 "ACROMEGALOID FEATURES, OVERGROWTH, CLEFT PALATE, AND HERNIA" 4533 606053 "AUTISM, SUSCEPTIBILITY TO, 5; AUTS5" 4534 606054 PROPIONIC ACIDEMIA 4535 606056 "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIb; CDG2B" 4536 606068 RETINITIS PIGMENTOSA 28; RP28 4537 606069 "HEMOCHROMATOSIS, TYPE 4; HFE4" 4538 606070 "MYOPATHY, DISTAL 2; MPD2" 4539 606071 "HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC" 4540 606072 "RIPPLING MUSCLE DISEASE; RMD RIPPLING MUSCLE DISEASE 2, INCLUDED; RMD2, INCLUDED" 4541 606104 MOVED TO 124000 4542 606129 DIAMOND-BLACKFAN ANEMIA 2 4543 606155 MENTAL RETARDATION WITH EPILEPSY AND CHARACTERISTIC FACIES 4544 606156 SENER SYNDROME 4545 606159 "BASAL GANGLIA DISEASE, ADULT-ONSET" 4546 606163 "CARDIOMYOPATHY, FATAL FETAL, DUE TO MYOCARDIAL CALCIFICATION" 4547 606164 DIAMOND-BLACKFAN ANEMIA WITH MICROTIA AND CLEFT PALATE 4548 606169 MOVED TO 277410 4549 606170 GENITOPATELLAR SYNDROME 4550 606174 "BACULUM, CONGENITAL ABSENCE OF" 4551 606175 CARNITINE ACETYLTRANSFERASE DEFICIENCY 4552 606176 "DIABETES MELLITUS, PERMANENT NEONATAL; PNDM" 4553 606177 PARS PLANITIS 4554 606179 ANEURYSMAL BONE CYSTS 4555 606183 LARYNGEAL ABDUCTOR PARALYSIS WITH CEREBELLAR ATAXIA AND MOTOR NEUROPATHY 4556 606190 "MENINGIOMA, RADIATION-INDUCED" 4557 606215 "ATRIOVENTRICULAR SEPTAL DEFECT, SUSCEPTIBILITY TO, 1; AVSD1" 4558 606217 "ATRIOVENTRICULAR SEPTAL DEFECT, SUSCEPTIBILITY TO, 2; AVSD2 ATRIOVENTRICULAR SEPTAL DEFECT, PARTIAL, WITH HETEROTAXY SYNDROME," 4559 606220 "MENTAL RETARDATION, SHORT STATURE, FACIAL ANOMALIES, AND JOINT DISLOCATIONS" 4560 606232 CHROMOSOME 22q13.3 DELETION SYNDROME 4561 606240 "THYROID CARCINOMA, NONMEDULLARY 1" 4562 606242 "MENTAL RETARDATION, MICROCEPHALY, GROWTH RETARDATION, JOINT CONTRACTURES, AND FACIAL DYSMORPHISM" 4563 606243 ALVEOLAR SOFT-PART SARCOMA; ASPS 4564 606257 STATURE QUANTITATIVE TRAIT LOCUS 3 4565 606282 "DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 24; DFNA24" 4566 606324 "PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK7" 4567 606346 "DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 22; DFNA22 DEAFNESS, SENSORINEURAL, WITH HYPERTROPHIC CARDIOMYOPATHY, INCLUDED" 4568 606349 "GAMBLING, PATHOLOGIC" 4569 606353 "PRIMARY LATERAL SCLEROSIS, JUVENILE; PLSJ" 4570 606364 SPINOCEREBELLAR ATAXIA 16; SCA16 4571 606367 "INTERLEUKIN 2 RECEPTOR, ALPHA, DEFICIENCY OF" 4572 606369 "EPILEPTIC ENCEPHALOPATHY, LENNOX-GASTAUT TYPE" 4573 606391 MATURITY-ONSET DIABETES OF THE YOUNG; MODY 4574 606392 "MATURITY-ONSET DIABETES OF THE YOUNG, TYPE IV; MODY4" 4575 606394 "MATURITY-ONSET DIABETES OF THE YOUNG, TYPE VI; MODY6" 4576 606407 HYPOTONIA-CYSTINURIA SYNDROME 4577 606408 EHLERS-DANLOS-LIKE SYNDROME DUE TO TENASCIN-X DEFICIENCY 4578 606437 MYOKYMIA WITH NEONATAL EPILEPSY 4579 606438 HUNTINGTON DISEASE-LIKE 2; HDL2 4580 606445 PERSISTENT POLYCLONAL B-CELL LYMPHOCYTOSIS 4581 606451 "DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 30; DFNA30" 4582 606482 "CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B" 4583 606483 "CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE A" 4584 606519 PHACE ASSOCIATION 4585 606527 MEGARBANE SYNDROME 4586 606528 HOMOZYGOUS 11p15-p14 DELETION SYNDROME 4587 606529 "CRANIOSYNOSTOSIS SYNDROME, AUTOSOMAL RECESSIVE" 4588 606545 "ICHTHYOSIS, LAMELLAR, 5; LI5" 4589 606552 "EPISODIC ATAXIA, TYPE 4; EA4" 4590 606554 "EPISODIC ATAXIA, TYPE 3; EA3" 4591 606574 "OCULOCUTANEOUS ALBINISM, TYPE IV; OCA4" 4592 606579 VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1; VAMAS1 4593 606581 "POLYSUBSTANCE ABUSE, SUSCEPTIBILITY TO" 4594 606593 LIG4 SYNDROME 4595 606595 "CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F" 4596 606606 "SHORT STATURE, PITUITARY AND CEREBELLAR DEFECTS, AND SMALL SELLA TURCICA" 4597 606612 "MUSCULAR DYSTROPHY, CONGENITAL, 1C; MDC1C" 4598 606616 "DYSLEXIA, SUSCEPTIBILITY TO, 6; DYX6" 4599 606617 NONCOMPACTION OF LEFT VENTRICULAR MYOCARDIUM WITH CONGENITAL HEART DEFECTS 4600 606632 "ODOR, MALE, WOMEN'S CHOICE OF" 4601 606640 AMYOTROPHIC LATERAL SCLEROSIS 3; ALS3 4602 606641 BODY MASS INDEX 4603 606642 BODY MASS INDEX QUANTITATIVE TRAIT LOCUS ON CHROMOSOME 7 4604 606656 "BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 2" 4605 606657 "GLAUCOMA, NORMAL TENSION, SUSCEPTIBILITY TO" 4606 606658 SPINOCEREBELLAR ATAXIA 15; SCA15 4607 606660 "MELANOMA, UVEAL, SUSCEPTIBILITY TO, 1" 4608 606661 "MELANOMA, UVEAL, SUSCEPTIBILITY TO, 2" 4609 606662 "WAARDENBURG SYNDROME, TYPE IIC" 4610 606664 GLYCINE N-METHYLTRANSFERASE DEFICIENCY 4611 606685 "CARDIOMYOPATHY, DILATED, 1L; CMD1L" 4612 606688 SPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURES 4613 606689 "GLAUCOMA 1, OPEN ANGLE, B; GLC1B" 4614 606690 LYMPHANGIOLEIOMYOMATOSIS; LAM 4615 606703 "DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA" 4616 606705 "DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 36; DFNA36" 4617 606708 SPLIT-HAND/FOOT MALFORMATION 5; SHFM5 4618 606713 VAN DER WOUDE SYNDROME 2 4619 606719 MELANOMA-PANCREATIC CANCER SYNDROME 4620 606721 LIPODYSTROPHY WITH CONGENITAL CATARACTS AND NEURODEGENERATION 4621 606744 SECKEL SYNDROME 2; SCKL2 4622 606752 ACUTE HEMORRHAGIC LEUKOENCEPHALITIS 4623 606762 "HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 6; HHF6" 4624 606764 GASTROINTESTINAL STROMAL TUMOR; GIST 4625 606766 "AZOOSPERMIA, NONOBSTRUCTIVE" 4626 606768 "MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL ONSET; DMAT" 4627 606772 "MENTAL RETARDATION, OBESITY, MANDIBULAR PROGNATHISM, AND EYE AND SKIN ANOMALIES" 4628 606773 HEMIFACIAL MYOHYPERPLASIA 4629 606777 "GLUCOSE TRANSPORT DEFECT, BLOOD-BRAIN BARRIER" 4630 606785 "CRIGLER-NAJJAR SYNDROME, TYPE II" 4631 606788 "ANOREXIA NERVOSA, SUSCEPTIBILITY TO, 1; ANON1" 4632 606798 "BLEPHAROSPASM, BENIGN ESSENTIAL" 4633 606799 "STROKE, SUSCEPTIBILITY TO, 1" 4634 606812 FUMARASE DEFICIENCY 4635 606824 GLUCOSE/GALACTOSE MALABSORPTION; GGM 4636 606835 "DIGITAL ARTHROPATHY-BRACHYDACTYLY, FAMILIAL" 4637 606840 "FACIOMANDIBULAR MYOCLONUS, NOCTURNAL" 4638 606842 CARDIONEUROMYOPATHY WITH HYALINE MASSES AND NEMALINE RODS 4639 606843 "IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 3" 4640 606851 CREE MENTAL RETARDATION SYNDROME 4641 606854 "POLYMICROGYRIA, BILATERAL FRONTOPARIETAL" 4642 606856 "PANCREATIC CANCER, SUSCEPTIBILITY TO, 1" 4643 606858 PREMATURE CHROMOSOME CONDENSATION WITH MICROCEPHALY AND MENTAL RETARDATION 4644 606864 PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA 4645 606874 "HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 6; HSCR6" 4646 606875 "HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 7; HSCR7" 4647 606889 ALZHEIMER DISEASE 4 4648 606893 "VASCULAR MALFORMATION, PRIMARY INTRAOSSEOUS" 4649 606894 "DUODENOJEJUNAL ATRESIA WITH VOLVULUS, ABSENT DORSAL MESENTERY, AND ABSENT SUPERIOR MESENTERIC ARTERY" 4650 606895 "SYMPHALANGISM, DISTAL, WITH MICRODONTIA, DENTAL PULP STONES, AND NARROWED ZYGOMATIC ARCH" 4651 606896 "DYSLEXIA, SUSCEPTIBILITY TO, 5; DYX5" 4652 606904 "EPILEPSY, JUVENILE MYOCLONIC; JME" 4653 606937 "SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 5; SCAR5" 4654 606943 "USHER SYNDROME, TYPE IG; USH1G" 4655 606952 "ALBINISM, OCULOCUTANEOUS, TYPE IB; OCA1B" 4656 606963 "PULMONARY DISEASE, CHRONIC OBSTRUCTIVE" 4657 606966 NEPHRONOPHTHISIS 4; NPHP4 4658 606984 "HYPERRENINEMIC HYPOALDOSTERONISM, FAMILIAL, 2" 4659 606996 SENIOR-LOKEN SYNDROME 4; SLSN4 4660 607014 HURLER SYNDROME 4661 607015 HURLER-SCHEIE SYNDROME 4662 607017 "DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 21; DFNA21" 4663 607034 "FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A; CFEOM3A" 4664 607039 "DEAFNESS, AUTOSOMAL RECESSIVE 22; DFNB22" 4665 607060 PARKINSON DISEASE 8; PARK8 4666 607078 "EPIPHYSEAL DYSPLASIA, MULTIPLE, 5; EDM5" 4667 607080 "GONADAL DYSGENESIS, 46,XY, PARTIAL, WITH MINIFASCICULAR NEUROPATHY GONADAL DYSGENESIS, 46,XY, PURE, WITH MINIFASCICULAR NEUROPATHY, INCLUDED" 4668 607085 MYASTHENIA GRAVIS WITH THYMUS HYPERPLASIA 4669 607086 "AORTIC ANEURYSM, FAMILIAL THORACIC 1" 4670 607087 "AORTIC ANEURYSM, FAMILIAL THORACIC 2" 4671 607088 "SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 3; DSMA3" 4672 607091 "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IId; CDG2D" 4673 607095 ANAUXETIC DYSPLASIA 4674 607101 "DEAFNESS, AUTOSOMAL RECESSIVE 30; DFNB30" 4675 607107 NASOPHARYNGEAL CARCINOMA 1 4676 607115 CINCA SYNDROME; CINCA 4677 607131 MACROCEPHALY WITH MULTIPLE EPIPHYSEAL DYSPLASIA AND DISTINCTIVE FACIES 4678 607132 "LARYNGEAL ATRESIA, ENCEPHALOCELE, AND LIMB DEFORMITIES" 4679 607133 "CATARACT, SUTURAL, WITH PUNCTATE AND CERULEAN OPACITIES" 4680 607136 SPINOCEREBELLAR ATAXIA 17; SCA17 4681 607140 ANGIOID STREAKS 4682 607143 "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ig; CDG1G" 4683 607150 FIFTH EWING SARCOMA VARIANT 4684 607151 MOYAMOYA DISEASE 2; MYMY2 4685 607152 "SPASTIC PARAPLEGIA 19, AUTOSOMAL DOMINANT; SPG19" 4686 607154 ALLERGIC RHINITIS 4687 607155 "MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I; LGMD2I" 4688 607161 MULTIPLE CONGENITAL ANOMALIES SYNDROME WITH CLOVERLEAF SKULL 4689 607174 "MENINGIOMA, FAMILIAL" 4690 607196 "MICROCEPHALY, AMISH TYPE; MCPHA" 4691 607197 "DEAFNESS, AUTOSOMAL RECESSIVE" 4692 607200 "THYROID HORMONOGENESIS, GENETIC DEFECT IN, 6" 4693 607202 "CELIAC DISEASE, SUSCEPTIBILITY TO, 5; CELIAC5" 4694 607208 SEVERE MYOCLONIC EPILEPSY OF INFANCY; SMEI 4695 607214 "ANONYCHIA, TOTAL, WITH MICROCEPHALY" 4696 607221 "EPILEPSY, PARTIAL, WITH PERICENTRAL SPIKES" 4697 607225 "SPASTIC PARALYSIS, INFANTILE-ONSET ASCENDING; IAHSP" 4698 607236 "HYPOPREBETALIPOPROTEINEMIA, ACANTHOCYTOSIS, RETINITIS PIGMENTOSA, AND PALLIDAL DEGENERATION" 4699 607239 "DEAFNESS, AUTOSOMAL RECESSIVE 33; DFNB33" 4700 607248 "GLIOMA, FAMILIAL, 1" 4701 607250 "SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY; SCAN1" 4702 607258 "HYPERCALCIURIA, ABSORPTIVE, 1" 4703 607259 "SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE; SPG7" 4704 607271 CASPASE 8 DEFICIENCY 4705 607276 RESTING HEART RATE 4706 607277 "ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 1" 4707 607278 OSTEOFIBROUS DYSPLASIA 4708 607279 "SYSTEMIC LUPUS ERYTHEMATOSUS WITH HEMOLYTIC ANEMIA, SUSCEPTIBILITY TO, 1; SLEH1" 4709 607304 "CATARACT, NUCLEAR PROGRESSIVE" 4710 607308 MAMMOGRAPHIC DENSITY 4711 607313 "GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS; HGPPS OPHTHALMOPLEGIA, PROGRESSIVE EXTERNAL, AND SCOLIOSIS, INCLUDED" 4712 607317 "SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 4; SCAR4" 4713 607322 CHOLESTERYL ESTER TRANSFER PROTEIN DEFICIENCY 4714 607323 DUANE-RADIAL RAY SYNDROME; DRRS 4715 607324 "POLYDACTYLY, POSTAXIAL, TYPE A3" 4716 607326 SMITH-MCCORT DYSPLASIA; SMC 4717 607329 "HYPERTENSION, ESSENTIAL, SUSCEPTIBILITY TO, 3" 4718 607330 LATHOSTEROLOSIS 4719 607341 FOCAL CORTICAL DYSPLASIA OF TAYLOR; FCDT 4720 607346 SPINOCEREBELLAR ATAXIA 19; SCA19 4721 607354 "SCOLIOSIS, IDIOPATHIC, SUSCEPTIBILITY TO, 2; IS2" 4722 607361 "MECKEL SYNDROME, TYPE 3; MKS3" 4723 607364 "BARTTER SYNDROME, TYPE 3" 4724 607371 "DYSTONIA, JUVENILE-ONSET" 4725 607373 "AUTISM, SUSCEPTIBILITY TO, 8; AUTS8" 4726 607395 "STREPTOCOCCUS, GROUP A, SEVERITY OF INFECTION BY" 4727 607398 GLUCOCORTICOID DEFICIENCY 2; GCCD2 4728 607411 PATENT DUCTUS ARTERIOSUS 4729 607417 "MENTAL RETARDATION, AUTOSOMAL RECESSIVE 2; MRT2" 4730 607426 COENZYME Q10 DEFICIENCY 4731 607432 LISSENCEPHALY 1; LIS1 4732 607450 "ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8; ARVD8" 4733 607453 "DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 44; DFNA44" 4734 607454 SPINOCEREBELLAR ATAXIA 21; SCA21 4735 607458 SPINOCEREBELLAR ATAXIA 18; SCA18 4736 607459 "SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS; SANDO SPINOCEREBELLAR ATAXIA WITH EPILEPSY, INCLUDED; SCAE, INCLUDED" 4737 607464 "THYROID CARCINOMA, HURTHLE CELL" 4738 607473 "VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 2" 4739 607475 BOTHNIA RETINAL DYSTROPHY 4740 607476 NEWFOUNDLAND ROD-CONE DYSTROPHY; NFRCD 4741 607482 "CARDIOMYOPATHY, DILATED, 1M; CMD1M" 4742 607485 FRONTOTEMPORAL LOBAR DEGENERATION WITH UBIQUITIN-POSITIVE INCLUSIONS; FTLDU 4743 607487 "CARDIOMYOPATHY, DILATED, 1N; CMD1N" 4744 607498 "MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 3" 4745 607499 "BULIMIA NERVOSA, SUSCEPTIBILITY TO, 1; BULN1" 4746 607500 MOVED TO 146390 4747 607501 "MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO, 4" 4748 607504 HEADACHE ASSOCIATED WITH SEXUAL ACTIVITY; HSA 4749 607507 "PSORIATIC ARTHRITIS, SUSCEPTIBILITY TO PSORIATIC ARTHRITIS, SUSCEPTIBILITY TO, 1; PSORAS1" 4750 607508 "MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 5" 4751 607514 "OBESITY, SUSCEPTIBILITY TO, ON CHROMOSOME 10q" 4752 607516 "MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 6" 4753 607523 "TOENAIL DYSTROPHY, ISOLATED" 4754 607539 "CAMPTOSYNPOLYDACTYLY, COMPLEX" 4755 607540 "SECRETORY DIARRHEA, MYOPATHY, AND DEAFNESS" 4756 607541 "CORNEAL DYSTROPHY, AVELLINO TYPE; CDA" 4757 607543 SPONDYLOMETAPHYSEAL DYSPLASIA WITH BOWED FOREARMS AND FACIAL DYSMORPHISM 4758 607552 "MINICORE MYOPATHY, ANTENATAL ONSET, WITH ARTHROGRYPOSIS" 4759 607554 "ATRIAL FIBRILLATION, FAMILIAL, 3; ATFB3" 4760 607561 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM WITH TOOTH ABNORMALITIES 4761 607565 "SPASTIC PARAPLEGIA, ATAXIA, AND MENTAL RETARDATION" 4762 607569 "MYOPATHY, DISTAL, WITH EARLY RESPIRATORY FAILURE, AUTOSOMAL DOMINANT" 4763 607572 "LEPROSY, SUSCEPTIBILITY TO, 2" 4764 607578 BREATH-HOLDING SPELLS 4765 607584 "SPASTIC PARAPLEGIA 24, AUTOSOMAL RECESSIVE; SPG24" 4766 607594 ICOS DEFICIENCY 4767 607595 BRAIN SMALL VESSEL DISEASE WITH HEMORRHAGE 4768 607596 "PONTOCEREBELLAR HYPOPLASIA, TYPE 1" 4769 607597 "MICROPHTHALMIA WITH CYST, BILATERAL FACIAL CLEFTS, AND LIMB ANOMALIES" 4770 607598 LETHAL CONGENITAL CONTRACTURE SYNDROME 2; LCCS2 4771 607600 EPIDERMOLYSIS BULLOSA DYSTROPHICA WITH SUBCORNEAL CLEAVAGE; EBDSC 4772 607602 "ICHTHYOSIS, CYCLIC, WITH EPIDERMOLYTIC HYPERKERATOSIS" 4773 607616 "NIEMANN-PICK DISEASE, TYPE B" 4774 607624 "GRISCELLI SYNDROME, TYPE 2; GS2" 4775 607625 "NIEMANN-PICK DISEASE, TYPE C2" 4776 607626 "ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS" 4777 607628 EPILEPSY WITH GRAND MAL SEIZURES ON AWAKENING 4778 607631 "EPILEPSY, JUVENILE ABSENCE; JAE" 4779 607634 "OSTEOPETROSIS, AUTOSOMAL DOMINANT 1; OPTA1" 4780 607636 "VAN BUCHEM DISEASE, TYPE 2" 4781 607641 "NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB; HMN7B" 4782 607644 "CANDIDIASIS, FAMILIAL CHRONIC NAIL, WITH ICAM1 DEFICIENCY; CANDN1" 4783 607654 KERATOSIS PALMOPLANTARIS STRIATA III 4784 607655 SKIN FRAGILITY-WOOLLY HAIR SYNDROME 4785 607656 CURLY HAIR-ACRAL KERATODERMA-CARIES SYNDROME 4786 607658 HYPOTRICHOSIS-OSTEOLYSIS-PERIODONTITIS-PALMOPLANTAR KERATODERMA SYNDROME 4787 607665 "TUBULOINTERSTITIAL NEPHRITIS WITH UVEITIS; TINU ACUTE TUBULOINTERSTITIAL NEPHRITIS, INCLUDED; ATIN, INCLUDED" 4788 607671 "DYSTONIA 13, TORSION; DYT13" 4789 607674 "CATARACT, CONGENITAL, WITH MENTAL IMPAIRMENT AND DENTATE GYRUS ATROPHY" 4790 607676 IRAK4 DEFICIENCY 4791 607677 "CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2I" 4792 607678 "CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1D; CMT1D" 4793 607681 "EPILEPSY, CHILDHOOD ABSENCE, 2" 4794 607682 "EPILEPSY, CHILDHOOD ABSENCE, 3" 4795 607683 "DEAFNESS, AUTOSOMAL DOMINANT 52; DFNA52" 4796 607684 "CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E" 4797 607685 "HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC; HES" 4798 607688 PARKINSON DISEASE 11; PARK11 4799 607689 ANDERSON DISEASE 4800 607692 MOVED TO 248800 AND 246700 4801 607694 LEUKODYSTROPHY WITH OLIGODONTIA 4802 607706 "CHARCOT-MARIE-TOOTH DISEASE, AXONAL, WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVE" 4803 607721 NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR 4804 607728 "POROKERATOSIS, DISSEMINATED SUPERFICIAL ACTINIC, 2" 4805 607731 "CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2H" 4806 607734 "CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1F" 4807 607736 "CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2J" 4808 607739 MOVED TO 604563 4809 607745 "SEIZURES, BENIGN FAMILIAL NEONATAL-INFANTILE" 4810 607748 "HYPERCHOLANEMIA, FAMILIAL; FHCA" 4811 607765 "BILE ACID SYNTHESIS DEFECT, CONGENITAL, 1" 4812 607778 ACROCAPITOFEMORAL DYSPLASIA; ACFD 4813 607785 JUVENILE MYELOMONOCYTIC LEUKEMIA; JMML 4814 607791 "CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE D" 4815 607801 "MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1C; LGMD1C" 4816 607812 CRANIOLENTICULOSUTURAL DYSPLASIA; CLSD 4817 607821 "DEAFNESS, CONGENITAL NEUROSENSORY, AUTOSOMAL RECESSIVE 37; DFNB37" 4818 607822 ALZHEIMER DISEASE 3 4819 607823 HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME 4820 607829 "MITRAL VALVE PROLAPSE, MYXOMATOUS 2; MMVP2" 4821 607831 "CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K; CMT2K" 4822 607832 FOCAL SEGMENTAL GLOMERULOSCLEROSIS 3; FSGS3 4823 607834 "NEUROTICISM ANXIETY, INCLUDED" 4824 607841 "DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL, DUE TO MUTATION IN MYO1A" 4825 607842 "AURAL ATRESIA, CONGENITAL" 4826 607847 "NEUTROPENIA, NONIMMUNE CHRONIC IDIOPATHIC, OF ADULTS" 4827 607850 HAND OSTEOARTHRITIS; HOA 4828 607855 "MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, 1A; MDC1A" 4829 607857 PSORIASIS SUSCEPTIBILITY 9 4830 607859 "ANGIOMA, TUFTED" 4831 607864 CAUDAL DUPLICATION ANOMALY 4832 607872 MONOSOMY 1p36 SYNDROME 4833 607876 "EPILEPSY, MYOCLONIC, BENIGN ADULT FAMILIAL, TYPE 2" 4834 607893 "OVARIAN CANCER, EPITHELIAL, SUSCEPTIBILITY TO" 4835 607903 "HYPOTRICHOSIS, LOCALIZED, AUTOSOMAL RECESSIVE; LAH" 4836 607906 "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii; CDG1I" 4837 607907 DERMATOFIBROSARCOMA PROTUBERANS; DFSP 4838 607920 "CARDIOMYOPATHY, DILATED, WITH QUADRICEPS MYOPATHY" 4839 607921 RETINITIS PIGMENTOSA 30; RP30 4840 607932 "MICROPHTHALMIA, SYNDROMIC 6; MCOPS6" 4841 607936 "EXFOLIATIVE ICHTHYOSIS, AUTOSOMAL RECESSIVE, ICHTHYOSIS BULLOSA OF SIEMENS-LIKE" 4842 607941 ATRIAL SEPTAL DEFECT 2; ASD2 4843 607944 COMBINED IMMUNODEFICIENCY WITH AUTOIMMUNITY AND SPONDYLOMETAPHYSEAL DYSPLASIA 4844 607948 "MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO MYCOBACTERIUM TUBERCULOSIS, PROTECTION AGAINST, INCLUDED" 4845 607949 "MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO, 1" 4846 607965 "SYSTEMIC LUPUS ERYTHEMATOSUS WITH NEPHRITIS, SUSCEPTIBILITY TO, 1; SLEN1" 4847 607966 "SYSTEMIC LUPUS ERYTHEMATOSUS WITH NEPHRITIS, SUSCEPTIBILITY TO, 2; SLEN2" 4848 607967 "SYSTEMIC LUPUS ERYTHEMATOSUS WITH NEPHRITIS, SUSCEPTIBILITY TO, 3; SLEN3" 4849 608013 "GAUCHER DISEASE, PERINATAL LETHAL" 4850 608022 "VERTEBRAL OSSIFICATION, DEFECT IN, WITH NEPHROGENIC RESTS" 4851 608026 HYPERTENSIVE NEPHROPATHY 4852 608027 CEREBELLAR ATROPHY WITH PROGRESSIVE MICROCEPHALY 4853 608028 THAI SYMPHALANGISM SYNDROME 4854 608029 "SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 6; SCAR6" 4855 608030 AMYOTROPHIC LATERAL SCLEROSIS 6 4856 608031 AMYOTROPHIC LATERAL SCLEROSIS 7 4857 608032 MOVED TO 127500 4858 608033 "NECROTIZING ENCEPHALOPATHY, ACUTE, AUTOSOMAL DOMINANT" 4859 608035 "MELANOMA, CUTANEOUS MALIGNANT, 4" 4860 608036 "DIABETES MELLITUS, NONINSULIN-DEPENDENT, 4" 4861 608049 "AUTISM, SUSCEPTIBILITY TO, 3" 4862 608051 "MACULAR DYSTROPHY, RETINAL, 2, BULL'S EYE" 4863 608056 "LIPOATROPHY WITH DIABETES, HEPATIC STEATOSIS, HYPERTROPHIC CARDIOMYOPATHY, AND LEUKOMELANODERMIC PAPULES; LDHCP" 4864 608063 "BILE AND PANCREATIC DUCTS, COMPLETE ABSENCE OF" 4865 608068 "NEUTROPHILIC DERMATOSIS, ACUTE FEBRILE" 4866 608088 "NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE I, WITH COUGH AND GASTROESOPHAGEAL REFLUX" 4867 608091 JOUBERT SYNDROME 2; JBTS2 4868 608093 "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ij; CDG1J" 4869 608096 "EPILEPSY, FAMILIAL TEMPORAL LOBE; ETL2" 4870 608097 "HETEROTOPIA, PERIVENTRICULAR, AUTOSOMAL RECESSIVE" 4871 608098 "HETEROTOPIA, PERIVENTRICULAR, ASSOCIATED WITH CHROMOSOME 5p ANOMALIES" 4872 608099 "MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D; LGMD2D" 4873 608104 "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ih; CDG1H" 4874 608105 "EPILEPSY, ROLANDIC, WITH PAROXYSMAL EXERCISE-INDUCED DYSTONIA AND WRITER'S CRAMP; EPRPDC" 4875 608106 "IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 5" 4876 608115 OVARIAN HYPERSTIMULATION SYNDROME 4877 608118 "ZINC IN BREAST MILK, REDUCED ZINC DEFICIENCY, NEONATAL, DUE TO LOW BREAST MILK ZINC, INCLUDED" 4878 608154 "LIPODYSTROPHY, GENERALIZED, WITH MENTAL RETARDATION, DEAFNESS, SHORT STATURE, AND SLENDER BONES" 4879 608156 NABLUS MASK-LIKE FACIAL SYNDROME 4880 608158 CoQ-RESPONSIVE OXPHOS DEFICIENCY 4881 608173 "AUTOIMMUNE THYROID DISEASE, SUSCEPTIBILITY TO, 1" 4882 608174 "AUTOIMMUNE THYROID DISEASE, SUSCEPTIBILITY TO, 2" 4883 608175 "AUTOIMMUNE THYROID DISEASE, SUSCEPTIBILITY TO, 3; AITD3" 4884 608176 "AUTOIMMUNE THYROID DISEASE, SUSCEPTIBILITY TO, 4" 4885 608180 SYNPOLYDACTYLY 2; SPD2 4886 608184 "IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 4" 4887 608189 TROPICAL CALCIFIC PANCREATITIS 4888 608194 CONE-ROD DYSTROPHY 9; CORD9 4889 608203 NEUTROPHIL IMMUNODEFICIENCY SYNDROME 4890 608207 "KALA-AZAR, SUSCEPTIBILITY TO, 1" 4891 608217 "EPILEPSY, BENIGN NEONATAL, 3; EBN3" 4892 608219 "DEAFNESS, CONGENITAL NEUROSENSORY, AUTOSOMAL RECESSIVE 38" 4893 608220 "SPASTIC PARAPLEGIA 25, AUTOSOMAL RECESSIVE; SPG25" 4894 608223 ASPIRIN RESISTANCE 4895 608224 "DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 41; DFNA41" 4896 608227 "CRANIOFACIAL ABNORMALITIES, CATARACTS, CONGENITAL HEART DISEASE, SACRAL NEURAL TUBE DEFECTS, AND GROWTH AND DEVELOPMENTAL RETARDATION" 4897 608232 "LEUKEMIA, CHRONIC MYELOID; CML" 4898 608233 HERMANSKY-PUDLAK SYNDROME 2; HPS2 4899 608236 "SLOWED NERVE CONDUCTION VELOCITY, AUTOSOMAL DOMINANT" 4900 608244 OTOSCLEROSIS 3; OTSC3 4901 608251 "PHOBIA, SPECIFIC" 4902 608257 "MANDIBULOFACIAL DYSOSTOSIS WITH PTOSIS, AUTOSOMAL DOMINANT" 4903 608264 "DEAFNESS, CONGENITAL NEUROSENSORY, AUTOSOMAL RECESSIVE 40; DFNB40" 4904 608265 "DEAFNESS, CONGENITAL NEUROSENSORY, AUTOSOMAL RECESSIVE 39; DFNB39" 4905 608266 PARATHYROID CARCINOMA 4906 608278 "GROWTH FAILURE, MICROCEPHALY, MENTAL RETARDATION, CATARACTS, LARGE JOINT CONTRACTURES, OSTEOPOROSIS, CORTICAL DYSPLASIA, AND CEREBELLAR" 4907 608279 CRANIOSYNOSTOSIS WITH OCULAR ABNORMALITIES AND HALLUCAL DEFECTS 4908 608281 "SCIMITAR ANOMALY, MULTIPLE CARDIAC MALFORMATIONS, AND CRANIOFACIAL AND CENTRAL NERVOUS SYSTEM ABNORMALITIES" 4909 608290 LELIS SYNDROME 4910 608316 "CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 2" 4911 608318 "CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 4" 4912 608320 "CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1; ADCAD1" 4913 608323 "CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE C" 4914 608328 "WEILL-MARCHESANI SYNDROME, AUTOSOMAL DOMINANT" 4915 608340 "CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE A" 4916 608345 "NYSTAGMUS 3, CONGENITAL, AUTOSOMAL DOMINANT; NYS3" 4917 608346 MOVED TO 236670 4918 608354 CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 4919 608355 PARKES WEBER SYNDROME 4920 608358 "MYOPATHY, MYOSIN STORAGE" 4921 608361 "SPONDYLOEPIPHYSEAL DYSPLASIA, KIMBERLEY TYPE" 4922 608363 MICRODUPLICATION 22q11.2 4923 608367 MYOPIA 4 4924 608371 OROFACIAL CLEFT 4 4925 608372 "DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 49; DFNA49" 4926 608380 RETINITIS PIGMENTOSA 26; RP26 4927 608389 BRANCHIOOTIC SYNDROME 3; BOS3 4928 608390 "MYOTONIA, POTASSIUM-AGGRAVATED" 4929 608391 "AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 2; AIS2" 4930 608392 "AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 3; AIS3" 4931 608393 "MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 6; MCPH6" 4932 608394 "DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 43; DFNA43" 4933 608395 KARAK SYNDROME 4934 608404 PLATELET GLYCOPROTEIN IV DEFICIENCY 4935 608406 "VATER-LIKE DEFECTS WITH PULMONARY HYPERTENSION, LARYNGEAL WEBS, AND GROWTH DEFICIENCY" 4936 608410 "OBESITY, SUSCEPTIBILITY TO, ON CHROMOSOME 4" 4937 608415 PROLONGED ELECTRORETINAL RESPONSE SUPPRESSION; PERRS 4938 608423 "MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1F; LGMD1F" 4939 608432 "CRANIOSYNOSTOSIS, CALCIFICATION OF BASAL GANGLIA, AND FACIAL DYSMORPHISM" 4940 608437 "SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 4" 4941 608443 "MENTAL RETARDATION, AUTOSOMAL RECESSIVE 3; MRT3" 4942 608445 SPEECH-SOUND DISORDER 4943 608446 "MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO, 1" 4944 608447 CAROTID INTIMAL MEDIAL THICKNESS 2 4945 608448 INFLAMMATORY BOWEL DISEASE 9; IBD9 4946 608454 "KNOBLOCH SYNDROME, TYPE II" 4947 608456 "COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE" 4948 608470 "CORNEAL DYSTROPHY OF BOWMAN LAYER, TYPE I; CDB1" 4949 608474 MYOPIA 5 4950 608484 "CONGENITAL CORNEAL OPACITIES, CORNEA GUTTATA, AND CORECTOPIA" 4951 608505 MOVED TO 225750 4952 608509 "ALOPECIA UNIVERSALIS CONGENITA, XY GONADAL DYSGENESIS, AND LARYNGOMALACIA" 4953 608516 MAJOR DEPRESSIVE DISORDER; MDD 4954 608518 OROFACIODIGITAL SYNDROME VII; OFD7 4955 608526 "PERIODONTITIS, AGGRESSIVE, 2" 4956 608540 "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ik; CDG1K" 4957 608542 "ANEURYSM, INTRACRANIAL BERRY, 2" 4958 608545 LARSEN-LIKE SYNDROME 4959 608553 "LEBER CONGENITAL AMAUROSIS, TYPE IX" 4960 608556 "LEGIONNAIRE DISEASE, SUSCEPTIBILITY TO" 4961 608557 "MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO, 2" 4962 608559 "BODY MASS INDEX QUANTITATIVE TRAIT LOCUS ON CHROMOSOME 20, IN CHILDREN" 4963 608562 "POLYDACTYLY, POSTAXIAL, TYPE A4" 4964 608563 MOVED TO 204650 4965 608565 "DEAFNESS, AUTOSOMAL RECESSIVE 35; DFNB35" 4966 608567 "SICK SINUS SYNDROME 1, AUTOSOMAL RECESSIVE; SSS1" 4967 608569 "CARDIOMYOPATHY, DILATED, 1O; CMD1O" 4968 608571 ULNAR/FIBULAR RAY DEFECT AND BRACHYDACTYLY 4969 608572 BURN-MCKEOWN SYNDROME 4970 608578 CEREBROFRONTOFACIAL SYNDROME 4971 608579 "SEVERE CUTANEOUS ADVERSE REACTION, SUSCEPTIBILITY TO" 4972 608583 "ATRIAL FIBRILLATION, FAMILIAL, 1; ATFB1" 4973 608584 "ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 2" 4974 608585 "BRACHIAL PALSY, FAMILIAL CONGENITAL" 4975 608586 KERATOCONUS 3; KTCN3 4976 608591 "CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2G; CMT2G" 4977 608594 "LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1; CGL1" 4978 608600 "LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 1; FPLD1" 4979 608611 RIBOSE 5-PHOSPHATE ISOMERASE DEFICIENCY 4980 608612 MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY; MADB 4981 608615 OLIGODONTIA-COLORECTAL CANCER SYNDROME 4982 608622 "HYPERTENSION, DIASTOLIC, RESISTANCE TO" 4983 608623 MOVED TO 276300 4984 608624 "MIDFACE HYPOPLASIA, OBESITY, DEVELOPMENTAL DELAY, AND NEONATAL HYPOTONIA" 4985 608627 AMYOTROPHIC LATERAL SCLEROSIS 8; ALS8 4986 608629 JOUBERT SYNDROME 3; JBTS3 4987 608631 "ASPERGER SYNDROME, SUSCEPTIBILITY TO, 2" 4988 608634 "NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB; HMN2B" 4989 608636 "AUTISM, SUSCEPTIBILITY TO, 4; AUTS4" 4990 608637 "SPONDYLOEPIPHYSEAL DYSPLASIA, OMANI TYPE" 4991 608638 "ASPERGER SYNDROME, SUSCEPTIBILITY TO, 1" 4992 608641 "DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 28; DFNA28" 4993 608643 AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY 4994 608644 "CILIARY DYSKINESIA, PRIMARY, 3" 4995 608645 "DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 31; DFNA31" 4996 608646 "CILIARY DYSKINESIA, PRIMARY, 4" 4997 608647 "CILIARY DYSKINESIA, PRIMARY, 5" 4998 608649 ICHTHYOSIS PREMATURITY SYNDROME 4999 608652 "DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 47; DFNA47" 5000 608653 "DEAFNESS, AUTOSOMAL RECESSIVE 32; DFNB32" 5001 608654 "NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V; HSAN5" 5002 608656 "PROSTATE CANCER, HEREDITARY, 3" 5003 608658 "PROSTATE CANCER, HEREDITARY, 4" 5004 608664 SECKEL SYNDROME 3; SCKL3 5005 608670 ROBIN SEQUENCE WITH DISTINCTIVE FACIAL APPEARANCE AND BRACHYDACTYLY 5006 608673 "CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2L" 5007 608681 "SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 2; SCDO2" 5008 608687 SPINOCEREBELLAR ATAXIA 20; SCA20 5009 608688 "AICAR TRANSFORMYLASE/IMP CYCLOHYDROLASE, DEFICIENCY OF" 5010 608695 "GLAUCOMA 1, OPEN ANGLE, J; GLC1J" 5011 608696 "GLAUCOMA 1, OPEN ANGLE, K; GLC1K" 5012 608703 SPINOCEREBELLAR ATAXIA 25; SCA25 5013 608709 BARRAQUER-SIMONS SYNDROME 5014 608710 WEGENER GRANULOMATOSIS 5015 608716 "MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 5; MCPH5" 5016 608720 "NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, ADULT-ONSET, WITH ANOSMIA" 5017 608728 "SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MATRILIN-3 RELATED" 5018 608742 "HYPERTENSION, ESSENTIAL, SUSCEPTIBILITY TO, 4" 5019 608747 INSULIN-LIKE GROWTH FACTOR I DEFICIENCY 5020 608751 "CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8; CMH8" 5021 608758 "CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10; CMH10 CARDIOMYOPATHY, HYPERTROPHIC, MID-LEFT VENTRICULAR CHAMBER TYPE, 2," 5022 608762 "EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 3; EIG3" 5023 608763 "EHLERS-DANLOS SYNDROME, BEASLEY-COHEN TYPE" 5024 608768 SPINOCEREBELLAR ATAXIA 8; SCA8 5025 608776 "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Il; CDG1L" 5026 608779 "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIe; CDG2E" 5027 608782 PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY 5028 608787 OTOSCLEROSIS 5; OTSC5 5029 608796 MOYAMOYA DISEASE 3 5030 608799 "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie; CDG1E" 5031 608800 SUDDEN INFANT DEATH WITH DYSGENESIS OF THE TESTES SYNDROME; SIDDT 5032 608804 "PELIZAEUS-MERZBACHER-LIKE DISEASE, AUTOSOMAL RECESSIVE, 1" 5033 608805 "AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY" 5034 608807 "MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J; LGMD2J" 5035 608808 "TRANSPOSITION OF THE GREAT ARTERIES, DEXTRO-LOOPED 1; DTGA1" 5036 608809 "LEUKOENCEPHALOPATHY, ARTHRITIS, COLITIS, AND HYPOGAMMAGLOBULINEMA; LACH" 5037 608810 ALPHA-B CRYSTALLINOPATHY 5038 608811 "METAPHYSEAL UNDERMODELING, SPONDYLAR DYSPLASIA, AND OVERGROWTH" 5039 608812 "COLORECTAL CANCER, SUSCEPTIBILITY TO, 1; CRCS1" 5040 608814 "LATERAL SEMICIRCULAR CANAL MALFORMATION, FAMILIAL, WITH EXTERNAL AND MIDDLE EAR ABNORMALITIES" 5041 608816 "MYOCLONIC EPILEPSY, JUVENILE, 3" 5042 608831 "RESTLESS LEGS SYNDROME, SUSCEPTIBILITY TO, 2" 5043 608836 "CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL" 5044 608837 CARNEY COMPLEX VARIANT 5045 608840 "MUSCULAR DYSTROPHY, CONGENITAL, TYPE 1D" 5046 608852 PULMONARY FUNCTION 5047 608864 OROFACIAL CLEFT 6 5048 608874 OROFACIAL CLEFT 5 5049 608885 "CRYOHYDROCYTOSIS, STOMATIN-DEFICIENT, WITH MENTAL RETARDATION, SEIZURES, CATARACTS, AND MASSIVE HEPATOSPLENOMEGALY" 5050 608890 "WAARDENBURG SYNDROME, TYPE IID" 5051 608895 "MACULAR DEGENERATION, AGE-RELATED, 3; ARMD3" 5052 608898 "HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3; FHL3" 5053 608901 "CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 5" 5054 608902 "DRUG METABOLISM, POOR, CYP2D6-RELATED" 5055 608907 ALZHEIMER DISEASE 9 5056 608908 MYOPIA 6 5057 608911 "CHOANAL ATRESIA, POSTERIOR; PCA" 5058 608930 "MYASTHENIC SYNDROME, CONGENITAL, FAST-CHANNEL" 5059 608931 "MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY" 5060 608932 KERATOCONUS 2; KTCN2 5061 608935 LUNG CANCER 1 5062 608940 SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY 5063 608957 "CD8 DEFICIENCY, FAMILIAL" 5064 608967 "LOEYS-DIETZ SYNDROME, TYPE 2A; LDS2A" 5065 608970 "MACULAR DYSTROPHY, BUTTERFLY-SHAPED PIGMENTARY, 2" 5066 608971 "SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-POSITIVE" 5067 608978 MEACHAM SYNDROME 5068 608980 "BIFID NOSE, RENAL AGENESIS, AND ANORECTAL MALFORMATIONS" 5069 608983 "CATARACT, CONGENITAL, CERULEAN TYPE, 3; CCA3" 5070 608984 "ATAXIA, SENSORY, AUTOSOMAL DOMINANT" 5071 608988 "ATRIAL FIBRILLATION, FAMILIAL, 2; ATFB2" 5072 608995 "DYSLEXIA, SUSCEPTIBILITY TO, 8; DYX8" 5073 608996 PREMATURE OVARIAN FAILURE 3; POF3 5074 609006 "DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE 36; DFNB36" 5075 609008 MARFANOID HABITUS WITH SITUS INVERSUS 5076 609015 TRIFUNCTIONAL PROTEIN DEFICIENCY 5077 609016 LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY 5078 609021 PERIPHERAL CONE DYSTROPHY 5079 609026 "CATARACT, AGE-RELATED CORTICAL" 5080 609029 EMANUEL SYNDROME