#155255 MEDULLOBLASTOMA
%158900 FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1A; FSHMD1A
#313200 SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1; SMAX1
#310200 MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD
#253550 SPINAL MUSCULAR ATROPHY, TYPE II; SMA2
#253400 SPINAL MUSCULAR ATROPHY, TYPE III; SMA3
#253300 SPINAL MUSCULAR ATROPHY, TYPE I; SMA1
#606641 BODY MASS INDEX
%608558 BODY MASS INDEX QUANTITATIVE TRAIT LOCUS ON CHROMOSOME 16, IN CHILDREN
%608559 BODY MASS INDEX QUANTITATIVE TRAIT LOCUS ON CHROMOSOME 20, IN CHILDREN
%606643 BODY MASS INDEX QUANTITATIVE TRAIT LOCUS ON CHROMOSOME 13
%607446 BODY MASS INDEX QUANTITATIVE TRAIT LOCUS ON CHROMOSOME 6
%606642 BODY MASS INDEX QUANTITATIVE TRAIT LOCUS ON CHROMOSOME 7
%607447 BODY MASS INDEX QUANTITATIVE TRAIT LOCUS ON CHROMOSOME 11
%608410 OBESITY, SUSCEPTIBILITY TO, ON CHROMOSOME 4
#300306 OBESITY, SUSCEPTIBILITY TO, X-LINKED
%606256 STATURE QUANTITATIVE TRAIT LOCUS 2
#609830 ABDOMINAL BODY FAT DISTRIBUTION
%607499 BULIMIA NERVOSA, SUSCEPTIBILITY TO, 1; BULN1
%107650 APNEA, OBSTRUCTIVE SLEEP
#601665 OBESITY
%610261 HYPERTENSION, ESSENTIAL, SUSCEPTIBILITY TO, 5
%606788 ANOREXIA NERVOSA, SUSCEPTIBILITY TO, 1; ANON1
#500005 HYPOMAGNESEMIA, HYPERTENSION, AND HYPERCHOLESTEROLEMIA, MITOCHONDRIAL
#610947 CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT 2; ADCAD2
#145750 HYPERTRIGLYCERIDEMIA, FAMILIAL
%602025 OBESITY QUANTITATIVE TRAIT LOCUS ON CHROMOSOME 20
%184700 POLYCYSTIC OVARY SYNDROME 1; PCOS1
#144250 HYPERLIPIDEMIA, FAMILIAL COMBINED; FCHL
#125853 DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM
#176270 PRADER-WILLI SYNDROME; PWS
%152100 LIPOPROTEIN TYPES--Ld SYSTEM
%607053 HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS
%309605 MILES-CARPENTER X-LINKED MENTAL RETARDATION SYNDROME; MCS
%600335 SUCCINIC ACIDEMIA
%277350 VITAMIN A METABOLIC DEFECT
#604091 HYPOALPHALIPOPROTEINEMIA, PRIMARY
#308990 PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIA AND NEPHROCALCINOSIS
%610744 IRIS PATTERN
%212160 CARNITINE DEFICIENCY, MYOPATHIC
#235700 HEXOKINASE DEFICIENCY HEMOLYTIC ANEMIA
%605201 HIGH DENSITY LIPOPROTEIN DEFICIENCY 3
%214300 KLIPPEL-FEIL SYNDROME, AUTOSOMAL RECESSIVE
#233910 GTP CYCLOHYDROLASE I DEFICIENCY
%130180 ELECTROENCEPHALOGRAM, LOW-VOLTAGE
#300301 ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH IMMUNODEFICIENCY, OSTEOPETROSIS,
#600081 25-@HYDROXYVITAMIN D3 DEFICIENCY, SELECTIVE
#607322 CHOLESTERYL ESTER TRANSFER PROTEIN DEFICIENCY
%609643 NGUYEN SYNDROME
%109160 AZOTEMIA, FAMILIAL
%212840 CEREBELLAR ATAXIA AND HYPOGONADOTROPIC HYPOGONADISM
%221650 DEAFNESS, NEURAL, PROGRESSIVE CHILDHOOD TYPE
%605019 HYPOBETALIPOPROTEINEMIA, FAMILIAL, 2
%608154 LIPODYSTROPHY, GENERALIZED, WITH MENTAL RETARDATION, DEAFNESS, SHORT
%109543 B-CELL MALIGNANCY, LOW-GRADE
%300612 BROOKS-WISNIEWSKI-BROWN SYNDROME
#600965 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 6; DFNA6
#610015 GLUTAMINE DEFICIENCY, CONGENITAL
#610988 LEPROSY, SUSCEPTIBILITY TO, 4
#233100 RENAL GLUCOSURIA; GLYS1
#610992 PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY
#300584 IMMUNODEFICIENCY WITHOUT ANHIDROTIC ECTODERMAL DYSPLASIA
%609625 CHROMOSOME 10q DELETION SYNDROME
#609698 THYROID HORMONE METABOLISM, ABNORMAL
%107100 ANORECTAL ANOMALIES
%134200 FACIAL PALSY, FAMILIAL RECURRENT PERIPHERAL
#203400 CORTICOSTERONE METHYLOXIDASE TYPE I DEFICIENCY
%221300 DEAFNESS, CONDUCTIVE, WITH MALFORMED EXTERNAL EAR
#300009 DENT DISEASE 1
#604715 ORTHOSTATIC INTOLERANCE
#605407 SEGAWA SYNDROME, AUTOSOMAL RECESSIVE
%606613 HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS
%607248 GLIOMA, FAMILIAL, 1
#609887 GLAUCOMA 1, OPEN ANGLE, G; GLC1G
#610163 IMMUNODEFICIENCY DUE TO DEFECT IN CD3-ZETA
%109660 BETA-AMINO ACIDS, RENAL TRANSPORT OF; AABT
%259780 OTOONYCHOPERONEAL SYNDROME
%300136 DIABETES MELLITUS, INSULIN-DEPENDENT, X-LINKED, SUSCEPTIBILITY TO
%609918 GALLBLADDER DISEASE 2
#610773 MITOCHONDRIAL PHOSPHATE CARRIER DEFICIENCY
#607616 NIEMANN-PICK DISEASE, TYPE B
%255125 MYOPATHY WITH DEFICIENCY OF SUCCINATE DEHYDROGENASE AND ACONITASE
#604290 ACERULOPLASMINEMIA
#124900 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 1; DFNA1
%185000 STOMATOCYTOSIS I
#201100 ACRODERMATITIS ENTEROPATHICA, ZINC-DEFICIENCY TYPE; AEZ
%241080 HYPOGONADISM, ALOPECIA, DIABETES MELLITUS, MENTAL RETARDATION, AND
#246700 CHYLOMICRON RETENTION DISEASE; CMRD
%168605 PARKINSONISM WITH ALVEOLAR HYPOVENTILATION AND MENTAL DEPRESSION
#201460 ACYL-CoA DEHYDROGENASE, LONG-CHAIN, DEFICIENCY OF
%212200 CARNOSINEMIA
#600955 PROPROTEIN CONVERTASE 1 DEFICIENCY
#207800 ARGININEMIA
#108340 ARYL HYDROCARBON HYDROXYLASE INDUCIBILITY
%210100 BETA-AMINOISOBUTYRIC ACID, URINARY EXCRETION OF
%254150 MUSK, INABILITY TO SMELL
#300209 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2
#300539 NEPHROGENIC SYNDROME OF INAPPROPRIATE ANTIDIURESIS; NSIAD
#601551 BLOOD GROUP--FROESE
#604278 RENAL TUBULAR ACIDOSIS, PROXIMAL, WITH OCULAR ABNORMALITIES
#605911 3-@HYDROXY-3-METHYLGLUTARYL-CoA SYNTHASE 2, MITOCHONDRIAL, DEFICIENCY
%607876 EPILEPSY, MYOCLONIC, BENIGN ADULT FAMILIAL, TYPE 2
#102900 ADENOSINE TRIPHOSPHATE, ELEVATED, OF ERYTHROCYTES
%124480 DEAFNESS, CONGENITAL, AND ONYCHODYSTROPHY, DOMINANT FORM
#133100 ERYTHROCYTOSIS, FAMILIAL, 1
%146350 HYPOPHOSPHATEMIC BONE DISEASE; HBD
%203330 PSEUDOHYPOPARATHYROIDISM, TYPE II
#210210 3-@METHYLCROTONYL-CoA CARBOXYLASE 2 DEFICIENCY
#212070 CARBOXYPEPTIDASE N DEFICIENCY
%220120 D-GLYCERIC ACIDEMIA
%222470 TRICHOHEPATOENTERIC SYNDROME
%235830 HISTIDINURIA DUE TO A RENAL TUBULAR DEFECT
%249650 MERCAPTOLACTATE-CYSTEINE DISULFIDURIA; MCDU
#262650 PITUITARY DWARFISM IV
%276905 USHER SYNDROME, TYPE IIB; USH2B
%300076 IMMUNONEUROLOGIC DISORDER, X-LINKED
%300245 PTOSIS, HEREDITARY CONGENITAL 2
%600771 DWARFISM, FAMILIAL, WITH MUSCLE SPASMS
%600977 CONE-ROD DYSTROPHY 5; CORD5
%601101 OSLER-RENDU-WEBER SYNDROME 3; ORW3
%601251 RETINAL CONE DYSTROPHY 2
#604131 THALASSEMIAS
#605192 DEAFNESS, AUTOSOMAL DOMINANT 23; DFNA23
%606689 GLAUCOMA 1, OPEN ANGLE, B; GLC1B
%606928 BONE MINERAL DENSITY VARIATION 3; BMND3
%606984 HYPERRENINEMIC HYPOALDOSTERONISM, FAMILIAL, 2
%607329 HYPERTENSION, ESSENTIAL, SUSCEPTIBILITY TO, 3
%607644 CANDIDIASIS, FAMILIAL CHRONIC NAIL, WITH ICAM1 DEFICIENCY; CANDN1
%607687 HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS
%608318 CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 4
%608372 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 49; DFNA49
%609128 ARTHROGRYPOSIS, DISTAL, TYPE 4; DA4
%609197 GLUCOCORTICOID DEFICIENCY 3
%609354 BONE MINERAL DENSITY VARIATION 5; BMND5
%609425 3q29 MICRODELETION SYNDROME
%609469 NEPHROPATHY, PROGRESSIVE, WITH DEAFNESS
#610370 DIARRHEA 4, MALABSORPTIVE, CONGENITAL
%610483 AGAMMAGLOBULINEMIA, MICROCEPHALY, AND SEVERE DERMATITIS
#610498 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 2; COXPD2
#610984 COMPLEMENT FACTOR I DEFICIENCY
#200100 ABETALIPOPROTEINEMIA; ABL
#245590 GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY
#609814 COMPLEMENT FACTOR H DEFICIENCY
#177200 LIDDLE SYNDROME
#210250 SITOSTEROLEMIA
#610460 THIOPURINE S-METHYLTRANSFERASE DEFICIENCY
#210900 BLOOM SYNDROME; BLM
#143470 HYPERALPHALIPOPROTEINEMIA
#144650 HYPERLIPOPROTEINEMIA, TYPE V
#166780 OTOFACIOCERVICAL SYNDROME
#179613 RECOMBINANT CHROMOSOME 8 SYNDROME
%202650 DYSGNATHIA COMPLEX
#205400 TANGIER DISEASE; TGD
%229050 FOLIC ACID, TRANSPORT DEFECT INVOLVING
#238700 HYPERLYSINEMIA
#248360 MALONYL-CoA DECARBOXYLASE DEFICIENCY
#250620 BETA-HYDROXYISOBUTYRYL CoA DEACYLASE, DEFICIENCY OF
#257320 LISSENCEPHALY SYNDROME, NORMAN-ROBERTS TYPE
#261740 GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL
%271630 SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, TOLEDO TYPE
#304150 CUTIS LAXA, X-LINKED
%601407 DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2; NIDDM2
#601451 NEVO SYNDROME
#604271 SHORT STATURE, IDIOPATHIC, AUTOSOMAL
#605115 HYPERTENSION, EARLY-ONSET, AUTOSOMAL DOMINANT, WITH SEVERE EXACERBATION
#607689 ANDERSON DISEASE
#609404 PREECLAMPSIA/ECLAMPSIA 4; PEE4
#609734 PROOPIOMELANOCORTIN DEFICIENCY
#610090 PYRIDOXAMINE 5-PRIME-PHOSPHATE OXIDASE DEFICIENCY
%610968 OSTEOGENESIS IMPERFECTA, TYPE VI
%102150 ACROMEGALOID FACIAL APPEARANCE SYNDROME
%118100 KLIPPEL-FEIL SYNDROME, AUTOSOMAL DOMINANT
%118830 CHYLOMICRONEMIA, FAMILIAL, DUE TO CIRCULATING INHIBITOR OF LIPOPROTEIN
#153670 BERNARD-SOULIER SYNDROME, BENIGN AUTOSOMAL DOMINANT
%155980 MEMBRANOUS CRANIAL OSSIFICATION, DELAYED
#156575 MEVALONATE UPTAKE FACILITATOR; MEV
#182212 SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
%194090 WILMS TUMOR 3; WT3
#210200 3-@METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY
%211180 BOWEN-CONRADI SYNDROME; BWCNS
%236795 3-@HYDROXYISOBUTYRIC ACIDURIA
#245348 PYRUVATE DEHYDROGENASE E2 DEFICIENCY
%260005 5-@OXOPROLINASE DEFICIENCY
#264600 PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS; PPSH
%270420 DIARRHEA 3, SECRETORY SODIUM, CONGENITAL
%274700 THYROID HORMONOGENESIS, GENETIC DEFECT IN, 3
#277460 VITAMIN E, FAMILIAL ISOLATED DEFICIENCY OF; VED
#300219 MYOTUBULAR MYOPATHY WITH ABNORMAL GENITAL DEVELOPMENT
#300472 CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA,
#300476 CONE-ROD DYSTROPHY, X-LINKED, 3; CORDX3
%300660 LEUKOENCEPHALOPATHY WITH METAPHYSEAL CHONDRODYSPLASIA
#601316 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 10; DFNA10
#601550 BLOOD GROUP--SWANN SYSTEM; SW
#601705 T-CELL IMMUNODEFICIENCY, CONGENITAL ALOPECIA, AND NAIL DYSTROPHY
%601776 ADDUCTED THUMB-CLUBFOOT SYNDROME
%603266 DIABETES MELLITUS, INSULIN-DEPENDENT, 17; IDDM17
%605013 MICROHYDRANENCEPHALY; MHAC
%605549 CONE-ROD DYSTROPHY 8; CORD8
%605746 ANISOMASTIA
%607131 MACROCEPHALY WITH MULTIPLE EPIPHYSEAL DYSPLASIA AND DISTINCTIVE FACIES
#607398 GLUCOCORTICOID DEFICIENCY 2; GCCD2
#607453 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 44; DFNA44
%608027 CEREBELLAR ATROPHY WITH PROGRESSIVE MICROCEPHALY
#608203 NEUTROPHIL IMMUNODEFICIENCY SYNDROME
#608779 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIe; CDG2E
#609069 DIABETES MELLITUS, PERMANENT NEONATAL, WITH CEREBELLAR AGENESIS
#609889 ALPHA/BETA T-CELL LYMPHOPENIA WITH GAMMA/DELTA T-CELL EXPANSION, SEVERE
%609893 HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 3; CHNG3
#610269 BULIMIA NERVOSA, SUSCEPTIBILITY TO, 2; BULN2
#610758 CEREBROOCULOFACIOSKELETAL SYNDROME 4; COFS4
#610759 CORNELIA DE LANGE SYNDROME 3; CDLS3
#610798 IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN
#611407 CARDIOMYOPATHY, DILATED, 1W; CMD1W
#104310 ALZHEIMER DISEASE 2
%127000 KENNY-CAFFEY SYNDROME, TYPE 2
%143850 ORTHOSTATIC HYPOTENSIVE DISORDER, STREETEN TYPE
#223100 LACTASE PERSISTENCE
%223370 DUBOWITZ SYNDROME
#236270 HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA DUE TO DEFECT IN COBALAMIN METABOLISM,
#238600 HYPERLIPOPROTEINEMIA, TYPE I
#240600 GLYCOGEN STORAGE DISEASE 0
#241410 HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME; HRD
#249500 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 1; MRT1
#272300 SULFOCYSTEINURIA
#309520 LUJAN-FRYNS SYNDROME
#602588 BRANCHIOOTIC SYNDROME 1; BOS1
#606777 GLUCOSE TRANSPORT DEFECT, BLOOD-BRAIN BARRIER
#147791 JACOBSEN SYNDROME; JBS
#255110 CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET
%605552 ABDOMINAL OBESITY-METABOLIC SYNDROME
#212140 CARNITINE DEFICIENCY, SYSTEMIC PRIMARY; CDSP
#166710 OSTEOPOROSIS, INVOLUTIONAL
#252150 MOLYBDENUM COFACTOR DEFICIENCY
#262500 GROWTH HORMONE INSENSITIVITY SYNDROME
#133239 ESOPHAGEAL CANCER
#146300 HYPOPHOSPHATASIA, ADULT TYPE
#202200 GLUCOCORTICOID DEFICIENCY 1; GCCD1
%220200 DANDY-WALKER SYNDROME; DWS
#223360 DOPAMINE BETA-HYDROXYLASE DEFICIENCY, CONGENITAL
#235800 HISTIDINEMIA
#261550 PERSISTENT MULLERIAN DUCT SYNDROME, TYPES I AND II; PMDS
#267430 RENAL TUBULAR DYSGENESIS; RTD
#601378 CRISPONI SYNDROME
#609015 TRIFUNCTIONAL PROTEIN DEFICIENCY
#610600 CORTICOSTERONE METHYLOXIDASE TYPE II DEFICIENCY
#111750 BLOOD GROUP--SCIANNA SYSTEM; SC
%117100 CENTRALOPATHIC EPILEPSY
#140340 HAW RIVER SYNDROME
#145260 PSEUDOHYPOALDOSTERONISM, TYPE II; PHA2
%148900 SEGMENTATION SYNDROME 1; SGM1
%166760 OTITIS MEDIA, SUSCEPTIBILITY TO
#170390 ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS
#180800 ROUSSY-LEVY HEREDITARY AREFLEXIC DYSTASIA
%184450 STUTTERING, FAMILIAL PERSISTENT 1; STUT1
%200400 ACHALASIA, FAMILIAL ESOPHAGEAL
#202400 AFIBRINOGENEMIA, CONGENITAL
%211960 CAMPTODACTYLY WITH MUSCULAR HYPOPLASIA, SKELETAL DYSPLASIA, AND ABNORMAL
%238320 HYPERGONADOTROPIC HYPOGONADISM; HHG
%241150 HYPOKALEMIA, FAMILIAL
#243060 MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA
%243150 INTESTINAL ATRESIA, MULTIPLE
#246200 DONOHUE SYNDROME
#249900 METACHROMATIC LEUKODYSTROPHY DUE TO DEFICIENCY OF CEREBROSIDE SULFATASE
%260600 PELIZAEUS-MERZBACHER-LIKE DISEASE, AUTOSOMAL RECESSIVE, 2
#266150 PYRUVATE CARBOXYLASE DEFICIENCY
#273395 TETRA-AMELIA, AUTOSOMAL RECESSIVE
#275200 HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1; CHNG1
%275400 TRICHOMEGALY WITH MENTAL RETARDATION, DWARFISM, AND PIGMENTARY DEGENERATION
#277590 WEAVER SYNDROME
#300577 MENTAL RETARDATION, X-LINKED 91; MRX91
#301310 ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA; ASAT
#310468 NEPHROLITHIASIS, X-LINKED RECESSIVE, WITH RENAL FAILURE; XRN
#600651 FRAGILE SITE 11B; FRA11B
#601317 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 11; DFNA11
#601634 NEURAL TUBE DEFECTS, FOLATE-SENSITIVE
%603047 ASTIGMATISM
%605871 R BINDER DEFICIENCY WITH LACTOFERRIN DEFICIENCY
%606053 AUTISM, SUSCEPTIBILITY TO, 5; AUTS5
#606217 ATRIOVENTRICULAR SEPTAL DEFECT, SUSCEPTIBILITY TO, 2; AVSD2
#607101 DEAFNESS, AUTOSOMAL RECESSIVE 30; DFNB30
#607236 HYPOPREBETALIPOPROTEINEMIA, ACANTHOCYTOSIS, RETINITIS PIGMENTOSA,
#607277 ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 1
%607346 SPINOCEREBELLAR ATAXIA 19; SCA19
#608106 IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 5
#608612 MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY; MADB
#608983 CATARACT, CONGENITAL, CERULEAN TYPE, 3; CCA3
#609220 BRUCK SYNDROME 2
#609304 MYOCLONIC EPILEPSY, NEONATAL, WITH SUPPRESSION-BURST PATTERN
#609307 SPINOCEREBELLAR ATAXIA 27; SCA27
%609640 FRIAS SYNDROME
#609757 WILLIAMS-BEUREN REGION DUPLICATION SYNDROME
#610006 2-@METHYLBUTYRYL-CoA DEHYDROGENASE DEFICIENCY
%610542 MYASTHENIA, LIMB-GIRDLE, WITH TUBULAR AGGREGATES
#131900 EPIDERMOLYSIS BULLOSA SIMPLEX, KOEBNER TYPE; EBS2
#142680 PERIODIC FEVER, FAMILIAL, AUTOSOMAL DOMINANT
#146200 HYPOPARATHYROIDISM, FAMILIAL ISOLATED; FIH
#150800 LEIOMYOMA, HEREDITARY MULTIPLE, OF SKIN
#169100 CHAR SYNDROME
#176410 PRECOCIOUS PUBERTY, MALE-LIMITED
#179800 RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL DOMINANT
%210710 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I
#212720 MARTSOLF SYNDROME
#224050 CEREBELLAR HYPOPLASIA, VLDLR-ASSOCIATED; VLDLRCH
#235400 HEMOLYTIC UREMIC SYNDROME, ATYPICAL; aHUS
#250100 METACHROMATIC LEUKODYSTROPHY
#264470 PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY
#300260 LUBS X-LINKED MENTAL RETARDATION SYNDROME; MRXSL
#300291 ECTODERMAL DYSPLASIA, HYPOHIDROTIC, WITH IMMUNE DEFICIENCY
#300438 HYDROXYACYL-CoA DEHYDROGENASE II DEFICIENCY
%305435 F-CELL PRODUCTION 1; FCP1
%602196 PIERRE ROBIN SEQUENCE WITH PECTUS EXCAVATUM AND RIB AND SCAPULAR ANOMALIES
%602483 AURICULOCONDYLAR SYNDROME
%603546 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH MULTIPLE DISLOCATIONS
#607594 ICOS DEFICIENCY
#607907 DERMATOFIBROSARCOMA PROTUBERANS; DFSP
#608415 PROLONGED ELECTRORETINAL RESPONSE SUPPRESSION; PERRS
#608654 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V; HSAN5
#608747 INSULIN-LIKE GROWTH FACTOR I DEFICIENCY
#609135 APLASTIC ANEMIA
#610377 MEVALONIC ACIDURIA
#610854 OSTEOGENESIS IMPERFECTA, TYPE IIB
%610967 OSTEOGENESIS IMPERFECTA, TYPE V
#270400 SMITH-LEMLI-OPITZ SYNDROME; SLOS
#206900 MICROPHTHALMIA, SYNDROMIC 3; MCOPS3
#214800 CHARGE SYNDROME
#252500 MUCOLIPIDOSIS II
#114480 BREAST CANCER
#130050 EHLERS-DANLOS SYNDROME, TYPE IV, AUTOSOMAL DOMINANT
#312170 PYRUVATE DECARBOXYLASE DEFICIENCY
#103580 ALBRIGHT HEREDITARY OSTEODYSTROPHY; AHO
#105150 AMYLOIDOSIS VI
%191830 UROGENITAL ADYSPLASIA, HEREDITARY
#201470 ACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF
#201475 ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF
#201750 POR DEFICIENCY
#213700 CEREBROTENDINOUS XANTHOMATOSIS
#222700 LYSINURIC PROTEIN INTOLERANCE; LPI
#245900 LECITHIN:CHOLESTEROL ACYLTRANSFERASE DEFICIENCY
#263800 GITELMAN SYNDROME
#266200 PYRUVATE KINASE DEFICIENCY OF RED CELLS
#600496 MATURITY-ONSET DIABETES OF THE YOUNG, TYPE III; MODY3
%100600 ACANTHOSIS NIGRICANS
%106700 TOTAL ANOMALOUS PULMONARY VENOUS RETURN 1; TAPVR1
#107250 ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS; ASMD
%108725 ATHEROSCLEROSIS SUSCEPTIBILITY; ATHS
#137760 GLAUCOMA, PRIMARY OPEN ANGLE; POAG
%141400 HEMIFACIAL MICROSOMIA WITH RADIAL DEFECTS
#144010 HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, TYPE B
#154020 HYPOMAGNESEMIA 2, RENAL; HOMG2
%155050 MAXILLONASAL DYSPLASIA, BINDER TYPE
#161550 NASOPHARYNGEAL CARCINOMA
%162350 CEROID LIPOFUSCINOSIS, NEURONAL, 4B, AUTOSOMAL DOMINANT; CLN4B
#164970 ONCOGENE TRK
#188025 THROMBOCYTOPENIA, PARIS-TROUSSEAU TYPE; TCPT
#193520 WATSON SYNDROME
#193670 WHIM SYNDROME
#202370 ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL FORM
#209300 ATRANSFERRINEMIA
%212350 CATARACT AND CARDIOMYOPATHY
%217980 CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND ROBIN SEQUENCE
#219050 CRYPTORCHIDISM, UNILATERAL OR BILATERAL
#220150 HYPOURICEMIA, RENAL
#222765 RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2; RCDP2
#227810 FANCONI-BICKEL SYNDROME; FBS
#241500 HYPOPHOSPHATASIA, INFANTILE
#245300 KURU, SUSCEPTIBILITY TO
#248500 MANNOSIDOSIS, ALPHA B, LYSOSOMAL
%249210 MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME
%249310 MEGALOCORNEA-MENTAL RETARDATION SYNDROME
#250940 METHYLCOBALAMIN DEFICIENCY, cblG TYPE
%251300 MICROCEPHALY, HIATUS HERNIA, AND NEPHROTIC SYNDROME
#260000 HYPEROXALURIA, PRIMARY, TYPE II
#260540 PARKINSON-DEMENTIA SYNDROME
#261515 D-BIFUNCTIONAL PROTEIN DEFICIENCY
%263650 POPLITEAL PTERYGIUM SYNDROME, LETHAL TYPE
%263750 POSTAXIAL ACROFACIAL DYSOSTOSIS; POADS
#266265 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIc; CDG2C
#267450 RESPIRATORY DISTRESS SYNDROME IN PREMATURE INFANTS
#272430 COLD-INDUCED SWEATING SYNDROME 1; CISS1
#274300 THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL RECESSIVE; GRTH
%277410 METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblD TYPE
#278750 XERODERMA PIGMENTOSUM, VARIANT TYPE; XPV
%300147 PROSTATE CANCER, HEREDITARY, X-LINKED; HPCX
#300240 HOYERAAL-HREIDARSSON SYNDROME; HHS
%300244 TERMINAL OSSEOUS DYSPLASIA AND PIGMENTARY DEFECTS
#300419 MENTAL RETARDATION, X-LINKED 54; MRX54
#301835 ARTS SYNDROME; ARTS
#302045 CARDIOMYOPATHY, DILATED, 3B; CMD3B
#312300 REIFENSTEIN SYNDROME
%424500 GONADOBLASTOMA; GBY
#600513 EPILEPSY, NOCTURNAL FRONTAL LOBE, TYPE 1
#600649 CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE
%600785 VITAMIN D-DEPENDENT RICKETS, TYPE II, WITH NORMAL VITAMIN D RECEPTOR
#601399 PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY
#602485 HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3; HHF3
#603513 CEREBRAL PALSY, SPASTIC, SYMMETRIC, AUTOSOMAL RECESSIVE
#603553 HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2; FHL2
#604129 EPIDERMOLYSIS BULLOSA PRURIGINOSA
#604273 ATPAF2 DEFICIENCY
%604595 CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 1
#604931 CORTISONE REDUCTASE DEFICIENCY
#605839 LEIOMYOMATOSIS AND RENAL CELL CANCER, HEREDITARY
#606324 PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK7
%606708 SPLIT-HAND/FOOT MALFORMATION 5; SHFM5
%607464 THYROID CARCINOMA, HURTHLE CELL
#607634 OSTEOPETROSIS, AUTOSOMAL DOMINANT, TYPE I; OPTA1
#607748 HYPERCHOLANEMIA, FAMILIAL; FHCA
#607855 MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, 1A; MDC1A
#608056 LIPOATROPHY WITH DIABETES, HEPATIC STEATOSIS, HYPERTROPHIC CARDIOMYOPATHY,
#608104 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ih; CDG1H
#609016 LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY
#609060 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1; COXPD1
#609909 CARDIOMYOPATHY, DILATED, 1P; CMD1P
#610168 FURLONG SYNDROME: FS
#610220 DEAFNESS, AUTOSOMAL RECESSIVE 59; DFNB59
#610682 OSTEOGENESIS IMPERFECTA, TYPE VII
#143890 HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT
#164230 OBSESSIVE-COMPULSIVE DISORDER 1; OCD1
#187950 THROMBOCYTHEMIA, ESSENTIAL
#188570 THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT; GRTH
%193000 VESICOURETERAL REFLUX 1; VUR1
#207900 ARGININOSUCCINIC ACIDURIA
#222900 SUCRASE-ISOMALTASE DEFICIENCY, CONGENITAL; CSID
%224100 ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE II; CDAN2
#238970 HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA SYNDROME
#241530 HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, HEREDITARY; HHRH
#248250 HYPOMAGNESEMIA 3, PRIMARY; HOMG3
#249270 THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME; TRMA
#253250 MULIBREY NANISM
#266500 REFSUM DISEASE
#272200 MULTIPLE SULFATASE DEFICIENCY; MSD
#601071 DEAFNESS, AUTOSOMAL RECESSIVE 9; DFNB9
#602014 HYPOMAGNESEMIA WITH SECONDARY HYPOCALCEMIA; HOMG
#602849 MUENKE SYNDROME
#606054 PROPIONIC ACIDEMIA
#142623 HIRSCHSPRUNG DISEASE
#300068 ANDROGEN INSENSITIVITY SYNDROME; AIS
#311250 ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO
#277900 WILSON DISEASE
#240300 AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I; APS1
#101400 SAETHRE-CHOTZEN SYNDROME; SCS
#103780 ALCOHOL DEPENDENCE
#103900 GLUCOCORTICOID-REMEDIABLE ALDOSTERONISM; GRA
#106100 ANGIOEDEMA, HEREDITARY; HAE
%125852 DIABETES MELLITUS, INSULIN-DEPENDENT, 2
#151400 LEUKEMIA, CHRONIC LYMPHOCYTIC; CLL
#158320 MUIR-TORRE SYNDROME; MTS
#218700 HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2; CHNG2
#218800 CRIGLER-NAJJAR SYNDROME
#220290 DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE 1; DFNB1
#251880 MITOCHONDRIAL DNA DEPLETION SYNDROME, HEPATOCEREBRAL FORM
#272120 SUDDEN INFANT DEATH SYNDROME
#277400 METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE
#307030 HYPERGLYCEROLEMIA
#601186 MICROPHTHALMIA, SYNDROMIC 9; MCOPS9
#605899 GLYCINE ENCEPHALOPATHY; GCE
#607364 BARTTER SYNDROME, TYPE 3
#607426 COENZYME Q10 DEFICIENCY
#609532 HEPATITIS C VIRUS, SUSCEPTIBILITY TO
#122470 CORNELIA DE LANGE SYNDROME 1; CDLS1
#163950 NOONAN SYNDROME 1; NS1
#105500 AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM/DEMENTIA COMPLEX 1
#107480 TOWNES-BROCKS SYNDROME; TBS
%129900 ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME
#145500 HYPERTENSION, ESSENTIAL
#149730 LACRIMOAURICULODENTODIGITAL SYNDROME; LADD
#160800 MYOTONIA CONGENITA, AUTOSOMAL DOMINANT
#166220 OSTEOGENESIS IMPERFECTA, TYPE IV
#181450 ULNAR-MAMMARY SYNDROME; UMS
%184850 STIFF-PERSON SYNDROME; SPS
#211600 CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 1; PFIC1
#211900 TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL; HFTC
#219100 CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE I
%220210 DANDY-WALKER-LIKE MALFORMATION WITH ATRIOVENTRICULAR SEPTAL DEFECT
#225400 EHLERS-DANLOS SYNDROME, TYPE VI
%235000 HEMIHYPERPLASIA, ISOLATED; IH
#240500 COMMON VARIABLE IMMUNODEFICIENCY; CVID
#252600 MUCOLIPIDOSIS IIIA
#257220 NIEMANN-PICK DISEASE, TYPE C1; NPC1
#264350 PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL RECESSIVE; PHA1
#300000 OPITZ SYNDROME
#309580 MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1; MRXHF1
#312060 PROPERDIN DEFICIENCY, X-LINKED
#556500 PARKINSON DISEASE, MITOCHONDRIAL
#600263 HELICOBACTER PYLORI INFECTION, SUSCEPTIBILITY TO
#601518 PROSTATE CANCER, HEREDITARY, 1; HPC1
#601808 CHROMOSOME 18q DELETION SYNDROME
#609241 SCHINDLER DISEASE, TYPE I
#101200 APERT SYNDROME
#103050 ADENYLOSUCCINASE DEFICIENCY
%112410 HYPERTENSION WITH BRACHYDACTYLY
%113620 BRANCHIAL CLEFTS WITH CHARACTERISTIC FACIES, GROWTH RETARDATION, IMPERFORATE
#117550 SOTOS SYNDROME
#117800 EAR WAX, WET/DRY
#122700 COUMARIN RESISTANCE
#125800 DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL
#127550 DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT
#128235 DYSTONIA 12; DYT12
#131800 EPIDERMOLYSIS BULLOSA OF HANDS AND FEET
#132900 AORTIC ANEURYSM, FAMILIAL THORACIC 4
#136580 FRAGILE SITE 16q22; FRA16A
%138800 GOITER, MULTINODULAR 1; MNG1
%145420 HYPERTELORISM, TEEBI TYPE
%148050 KBG SYNDROME
#151100 LEOPARD SYNDROME
#153650 EPSTEIN SYNDROME
#156400 METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE
%156610 SKIN CREASES, MULTIPLE BENIGN RING-SHAPED, OF LIMBS
#176000 PORPHYRIA, ACUTE INTERMITTENT
#179010 PYLORIC STENOSIS, INFANTILE HYPERTROPHIC 1; IHPS1
%180700 ROBINOW SYNDROME, AUTOSOMAL DOMINANT
#182290 SMITH-MAGENIS SYNDROME; SMS
#186580 SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES
%186700 SYRINGOMYELIA, ISOLATED
#207750 APOLIPOPROTEIN C-II DEFICIENCY
#210600 SECKEL SYNDROME 1
#220111 LEIGH SYNDROME, FRENCH-CANADIAN TYPE; LSFC
%224500 DYSTONIA, TORSION, 2, AUTOSOMAL RECESSIVE; DYT2
#233690 GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE
#235600 HERMAPHRODITISM, TRUE
#239200 HYPERPARATHYROIDISM, NEONATAL SEVERE PRIMARY; NSHPT
#242860 IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME
#245400 LACTIC ACIDOSIS, FATAL INFANTILE
%248700 MARDEN-WALKER SYNDROME
#251260 NIJMEGEN BREAKAGE SYNDROME
#255200 MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE
#255800 SCHWARTZ-JAMPEL SYNDROME, TYPE 1; SJS1
#256030 NEMALINE MYOPATHY 2; NEM2
#259770 OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME; OPPG
#260400 SHWACHMAN-DIAMOND SYNDROME; SDS
%260565 PEHO SYNDROME
#262190 PINEAL HYPERPLASIA, INSULIN-RESISTANT DIABETES MELLITUS, AND SOMATIC
%264090 PROGEROID SYNDROME, NEONATAL
%265850 PYGMY
#266130 GLUTATHIONE SYNTHETASE DEFICIENCY
#266510 REFSUM DISEASE, INFANTILE FORM
%272440 SYNDACTYLY, TYPE I, WITH MICROCEPHALY AND MENTAL RETARDATION
#273750 THREE M SYNDROME
#276710 TYROSINEMIA, TYPE III
#277950 WINCHESTER SYNDROME
#278300 XANTHINURIA, TYPE I
#278780 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G; XPG
#300352 CREATINE DEFICIENCY SYNDROME, X-LINKED
#300388 POLYMICROGYRIA, BILATERAL PERISYLVIAN; BPP
#300559 MUSCLE GLYCOGENOSIS, X-LINKED
#308350 INFANTILE SPASM SYNDROME, X-LINKED
#313900 THROMBOCYTOPENIA 1; THC1
#600462 MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC ANEMIA; MLASA
#601005 TIMOTHY SYNDROME; TS
#601492 HYALURONIDASE DEFICIENCY
#601884 BONE MINERAL DENSITY VARIATION 1; BMND1
%601894 GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS
%603935 PSORIASIS SUSCEPTIBILITY 4; PSORS4
#604498 AMEGAKARYOCYTIC THROMBOCYTOPENIA, CONGENITAL; CAMT
%605244 CARNEY COMPLEX, TYPE II; CNC2
#606159 BASAL GANGLIA DISEASE, ADULT-ONSET
#606690 LYMPHANGIOLEIOMYOMATOSIS; LAM
#606952 ALBINISM, OCULOCUTANEOUS, TYPE IB; OCA1B
#607143 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ig; CDG1G
#607625 NIEMANN-PICK DISEASE, TYPE C2
#607736 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2J
#607765 BILE ACID SYNTHESIS DEFECT, CONGENITAL, 1
#607872 MONOSOMY 1p36 SYNDROME
%607932 MICROPHTHALMIA, SYNDROMIC 6; MCOPS6
#607948 MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO
#608363 MICRODUPLICATION 22q11.2
#608643 AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY
%608911 CHOANAL ATRESIA, POSTERIOR; PCA
#608971 SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE,
#609536 COMPLEMENT COMPONENT 5 DEFICIENCY
#610127 CEROID LIPOFUSCINOSIS, NEURONAL, 10; CLN10
%610158 CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 2; FECD2
#610549 DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS
#610832 FANCONI ANEMIA, COMPLEMENTATION GROUP N
#610883 POTOCKI-LUPSKI SYNDROME; PTLS
#610915 OSTEOGENESIS IMPERFECTA, TYPE VIII
#309400 MENKES DISEASE
#192430 VELOCARDIOFACIAL SYNDROME
#607014 HURLER SYNDROME
%102300 RESTLESS LEGS SYNDROME, SUSCEPTIBILITY TO, 1
#110100 BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS; BPES
#128230 DYSTONIA, DOPA-RESPONSIVE; DRD
%157300 MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1
%157900 MOEBIUS SYNDROME; MBS
#171200 THIOUREA TASTING
#176200 PORPHYRIA VARIEGATA
#176670 HUTCHINSON-GILFORD PROGERIA SYNDROME; HGPS
%183600 SPLIT-HAND/FOOT MALFORMATION 1; SHFM1
#203800 ALSTROM SYNDROME; ALMS
#231680 MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY; MADD
#262600 PITUITARY DWARFISM III
#264300 17-@BETA HYDROXYSTEROID DEHYDROGENASE III DEFICIENCY
#300200 ADRENAL HYPOPLASIA, CONGENITAL; AHC
#305450 OPITZ-KAVEGGIA SYNDROME; OKS
#305600 FOCAL DERMAL HYPOPLASIA; FDH
%311360 PREMATURE OVARIAN FAILURE 1; POF1
#312870 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1; SGBS1
#601367 STROKE, ISCHEMIC
%601410 DIABETES MELLITUS, TRANSIENT NEONATAL, 1
#601675 TRICHOTHIODYSTROPHY, PHOTOSENSITIVE; TTDP
#602080 PAGET DISEASE OF BONE; PDB
#603041 MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME; MNGIE
%104000 ALOPECIA AREATA 1
#120330 PAPILLORENAL SYNDROME
%128200 EPISODIC KINESIGENIC DYSKINESIA 1; EKD1
#137800 GLIOMA OF BRAIN, FAMILIAL
#143500 GILBERT SYNDROME
#144200 PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC; EPPK
#148000 KAPOSI SARCOMA
#148210 KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL DOMINANT
#153400 LYMPHEDEMA-DISTICHIASIS SYNDROME
%156240 MESOTHELIOMA, MALIGNANT
#158000 MONILETHRIX
#160120 EPISODIC ATAXIA, TYPE 1; EA1
%167000 SUPPRESSOR OF TUMORIGENICITY 8; ST8
#170400 HYPOKALEMIC PERIODIC PARALYSIS; HOKPP
%174000 MEDULLARY CYSTIC KIDNEY DISEASE 1; MCKD1
#175780 PORENCEPHALY, FAMILIAL
#176430 PREMATURE CHROMATID SEPARATION TRAIT; PCS
%180860 SILVER-RUSSELL SYNDROME; SRS
#181350 EMERY-DREIFUSS MUSCULAR DYSTROPHY, AUTOSOMAL DOMINANT; EDMD2
#182230 SEPTOOPTIC DYSPLASIA
#187500 TETRALOGY OF FALLOT
#191100 TUBEROUS SCLEROSIS; TS
#202010 ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE
#202110 ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 17-ALPHA-HYDROXYLASE DEFICIENCY
#209500 ATRICHIA WITH PAPULAR LESIONS; APL
#215600 CIRRHOSIS, FAMILIAL
#217800 MACULAR DYSTROPHY, CORNEAL, 1; MCDC1
#227300 FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF; F5F8D
%229200 EHLERS-DANLOS SYNDROME, TYPE VIB
#231200 GIANT PLATELET SYNDROME
#232220 GLYCOGEN STORAGE DISEASE Ib
#241200 BARTTER SYNDROME, ANTENATAL, TYPE 2
#248510 MANNOSIDOSIS, BETA A, LYSOSOMAL
#252930 MUCOPOLYSACCHARIDOSIS TYPE IIIC
#256850 GIANT AXONAL NEUROPATHY 1; GAN1
#265800 PYCNODYSOSTOSIS
%270150 SJOGREN SYNDROME
#271900 CANAVAN DISEASE
%300082 COGNITIVE FUNCTION 1, SOCIAL; CGF1
#300389 RETINITIS PIGMENTOSA 3; RP3
#305400 FACIOGENITAL DYSPLASIA
#502000 AGING
#540000 MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE
#600101 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 2; DFNA2
#600118 WARBURG MICRO SYNDROME; WARBM
#600334 TIBIAL MUSCULAR DYSTROPHY, TARDIVE
#600721 D-2-@HYDROXYGLUTARIC ACIDURIA
#601321 NEUROFIBROMATOSIS-NOONAN SYNDROME; NFNS
#601596 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C; CMT4C
#602450 SEVERE COMBINED IMMUNODEFICIENCY WITH SENSITIVITY TO IONIZING RADIATION
#604320 SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 1; DSMA1
#605253 NEUROPATHY, CONGENITAL HYPOMYELINATING
#606176 DIABETES MELLITUS, PERMANENT NEONATAL; PNDM
#606391 MATURITY-ONSET DIABETES OF THE YOUNG; MODY
#606904 EPILEPSY, JUVENILE MYOCLONIC; JME
#607060 PARKINSON DISEASE 8; PARK8
#607459 SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS; SANDO
%608096 EPILEPSY, FAMILIAL TEMPORAL LOBE; ETL2
#608233 HERMANSKY-PUDLAK SYNDROME 2; HPS2
#609322 RHABDOID TUMOR; RDT
#128100 DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT; DYT1
#166210 OSTEOGENESIS IMPERFECTA, TYPE IIA
#168000 PARAGANGLIOMAS 1; PGL1
#216550 COHEN SYNDROME; COH1
#230400 GALACTOSEMIA
#232300 GLYCOGEN STORAGE DISEASE II
#152700 SYSTEMIC LUPUS ERYTHEMATOSUS; SLE
#188400 DIGEORGE SYNDROME; DGS
%222100 DIABETES MELLITUS, INSULIN-DEPENDENT; IDDM
#102700 SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE,
#176807 PROSTATE CANCER
#218040 COSTELLO SYNDROME
#248600 MAPLE SYRUP URINE DISEASE
#256000 LEIGH SYNDROME; LS
#256450 HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1; HHF1
#272800 TAY-SACHS DISEASE; TSD
#300400 SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED; SCIDX1
#301000 WISKOTT-ALDRICH SYNDROME; WAS
#415000 SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED
#109800 BLADDER CANCER
#123450 CRI-DU-CHAT SYNDROME
#125850 MATURITY-ONSET DIABETES OF THE YOUNG, TYPE I; MODY1
#130000 EHLERS-DANLOS SYNDROME, TYPE I
#135150 BIRT-HOGG-DUBE SYNDROME; BHD
%137100 IMMUNOGLOBULIN A DEFICIENCY 1; IGAD1
#145900 HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS
%148500 TYLOSIS WITH ESOPHAGEAL CANCER; TOC
#149400 HYPEREKPLEXIA, HEREDITARY
#151660 LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2; FPLD2
#158810 BETHLEM MYOPATHY
%173800 POLAND SYNDROME
#181510 SCHIZOPHRENIA 1; SCZD1
%181750 SCLERODERMA, FAMILIAL PROGRESSIVE
#200150 CHOREOACANTHOCYTOSIS; CHAC
#201300 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE II; HSAN2
#203500 ALKAPTONURIA
#209950 ATYPICAL MYCOBACTERIOSIS, FAMILIAL
%213300 JOUBERT SYNDROME 1; JBTS1
#215700 CITRULLINEMIA, CLASSIC
#217095 CONOTRUNCAL HEART MALFORMATIONS; CTHM
#219080 ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA; AIMAH
#234500 HARTNUP DISORDER
#248370 MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY; MADA
#250850 METHIONINE ADENOSYLTRANSFERASE DEFICIENCY
#251000 METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY
%251850 DIARRHEA 2, WITH MICROVILLOUS ATROPHY
#256600 NEUROAXONAL DYSTROPHY, INFANTILE; INAD1
%262890 SCOTT SYNDROME
#268310 ROBINOW SYNDROME, AUTOSOMAL RECESSIVE
#276901 USHER SYNDROME, TYPE IIA; USH2A
#300322 LESCH-NYHAN SYNDROME; LNS
#300582 SHORT STATURE, IDIOPATHIC, X-LINKED; ISS
#300623 FRAGILE X TREMOR/ATAXIA SYNDROME; FXTAS
#304120 OTOPALATODIGITAL SYNDROME, TYPE II; OPD2
%308905 LEBER OPTIC ATROPHY, SUSCEPTIBILITY TO
#314250 DYSTONIA 3, TORSION, X-LINKED; DYT3
#400042 SERTOLI CELL-ONLY SYNDROME, Y-LINKED
#520000 DIABETES-DEAFNESS SYNDROME, MATERNALLY TRANSMITTED
#600376 OSLER-RENDU-WEBER SYNDROME 2; ORW2
#603813 HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE; ARH
#604906 SCHIZOPHRENIA 9; SCZD9
#607624 GRISCELLI SYNDROME, TYPE 2; GS2
%607834 NEUROTICISM
#608099 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D; LGMD2D
#100070 AORTIC ANEURYSM, ABDOMINAL
#106210 ANIRIDIA, TYPE II; AN2
#145980 HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE I; HHC1
#146510 PALLISTER-HALL SYNDROME; PHS
%147920 KABUKI SYNDROME
#153480 BANNAYAN-RILEY-RUVALCABA SYNDROME; BRRS
#161400 NARCOLEPSY 1; NRCLP1
#174800 MCCUNE-ALBRIGHT SYNDROME; MAS
#180849 RUBINSTEIN-TAYBI SYNDROME; RSTS
%189800 PREECLAMPSIA/ECLAMPSIA 1; PEE1
#192600 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC; CMH
#203100 ALBINISM, OCULOCUTANEOUS, TYPE IA; OCA1A
#214100 ZELLWEGER SYNDROME; ZS
#220100 CYSTINURIA
#230800 GAUCHER DISEASE, TYPE I
#236250 HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE
#244400 KARTAGENER SYNDROME
#247200 MILLER-DIEKER LISSENCEPHALY SYNDROME; MDLS
#250250 CARTILAGE-HAIR HYPOPLASIA; CHH
#273300 TESTICULAR TUMORS
#307800 HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT
#600116 PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE; PARK2
#603174 HOMOCYSTEINEMIA
#104300 ALZHEIMER DISEASE; AD
#105830 ANGELMAN SYNDROME; AS
#229300 FRIEDREICH ATAXIA 1; FRDA
#166200 OSTEOGENESIS IMPERFECTA, TYPE I
#193300 VON HIPPEL-LINDAU SYNDROME; VHL
#194070 WILMS TUMOR 1; WT1
#115470 CAT EYE SYNDROME; CES
#116920 LEUKOCYTE ADHESION DEFICIENCY, TYPE I; LAD
#119300 VAN DER WOUDE SYNDROME; VWS
#119600 CLEIDOCRANIAL DYSPLASIA; CCD
#125700 DIABETES INSIPIDUS, NEUROHYPOPHYSEAL TYPE
#126200 MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO; MS
#127300 LERI-WEILL DYSCHONDROSTEOSIS; LWD
#135100 FIBRODYSPLASIA OSSIFICANS PROGRESSIVA; FOP
#137215 GASTRIC CANCER
#146110 HYPOGONADOTROPIC HYPOGONADISM
#147950 KALLMANN SYNDROME 2; KAL2
#154780 MARSHALL SYNDROME
%161950 IgA NEPHROPATHY 1; IGAN1
#171300 PHEOCHROMOCYTOMA
#178600 PULMONARY HYPERTENSION, PRIMARY; PPH1
#182601 SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT; SPG4
#194050 WILLIAMS-BEUREN SYNDROME; WBS
#194190 WOLF-HIRSCHHORN SYNDROME; WHS
#201450 ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF
#201710 LIPOID CONGENITAL ADRENAL HYPERPLASIA
#209880 AUTONOMIC CONTROL, CONGENITAL FAILURE OF
#209920 BARE LYMPHOCYTE SYNDROME, TYPE II
%213600 BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1; IBGC1
#214500 CHEDIAK-HIGASHI SYNDROME; CHS
#216400 COCKAYNE SYNDROME, TYPE A; CSA
#232600 GLYCOGEN STORAGE DISEASE V
#233700 GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE,
#234200 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1; NBIA1
%236100 HOLOPROSENCEPHALY
#242500 ICHTHYOSIS CONGENITA, HARLEQUIN FETUS TYPE
#242900 IMMUNOOSSEOUS DYSPLASIA, SCHIMKE TYPE
#249000 MECKEL SYNDROME, TYPE 1; MKS1
#253260 BIOTINIDASE DEFICIENCY
#253800 FUKUYAMA CONGENITAL MUSCULAR DYSTROPHY; FCMD
#256550 NEURAMINIDASE DEFICIENCY
#257300 MOSAIC VARIEGATED ANEUPLOIDY SYNDROME; MVA
#259420 OSTEOGENESIS IMPERFECTA, TYPE III
#259700 OSTEOPETROSIS, AUTOSOMAL RECESSIVE
#259900 HYPEROXALURIA, PRIMARY, TYPE I
#268800 SANDHOFF DISEASE
#269700 LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2; CGL2
#273800 THROMBASTHENIA OF GLANZMANN AND NAEGELI
#276300 TURCOT SYNDROME
#300376 MUSCULAR DYSTROPHY, BECKER TYPE; BMD
#300624 FRAGILE X MENTAL RETARDATION SYNDROME
#301040 ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED;
#304790 IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED;
#309801 MICROPHTHALMIA, SYNDROMIC 7; MCOPS7
#310500 NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1A; CSNB1A
#600309 ATRIOVENTRICULAR SEPTAL DEFECT; AVSD
#607174 MENINGIOMA, FAMILIAL
#608931 MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR
#137580 GILLES DE LA TOURETTE SYNDROME; GTS
#249100 FAMILIAL MEDITERRANEAN FEVER; FMF
#306400 GRANULOMATOUS DISEASE, CHRONIC, X-LINKED; CGD
%125480 MAJOR AFFECTIVE DISORDER 1; MAFD1
#160900 DYSTROPHIA MYOTONICA 1
#181500 SCHIZOPHRENIA; SCZD
#208900 ATAXIA-TELANGIECTASIA; AT
#105400 AMYOTROPHIC LATERAL SCLEROSIS 1; ALS1
#120435 COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 1; HNPCC1
#177900 PSORIASIS SUSCEPTIBILITY 1; PSORS1
#227650 FANCONI ANEMIA; FA
#266600 INFLAMMATORY BOWEL DISEASE 1; IBD1
#301500 FABRY DISEASE
#102200 ACROMEGALY
#105650 DIAMOND-BLACKFAN ANEMIA; DBA
#115200 CARDIOMYOPATHY, DILATED, 1A; CMD1A
#118220 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A; CMT1A
#118450 ALAGILLE SYNDROME 1; ALGS1
#143465 ATTENTION DEFICIT-HYPERACTIVITY DISORDER; ADHD
%145410 HYPERTELORISM WITH ESOPHAGEAL ABNORMALITY AND HYPOSPADIAS
#145600 MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1; MHS1
%155600 MELANOMA, CUTANEOUS MALIGNANT; CMM
#155720 MELANOMA, UVEAL
#174900 JUVENILE POLYPOSIS SYNDROME; JPS
#176920 PROTEUS SYNDROME
#204200 CEROID LIPOFUSCINOSIS, NEURONAL, 3; CLN3
#215100 RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1; RCDP1
#254800 MYOCLONIC EPILEPSY OF UNVERRICHT AND LUNDBORG
#256700 NEUROBLASTOMA
#264800 PSEUDOXANTHOMA ELASTICUM; PXE
%267700 HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 1
#603896 LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER; VWM
#608232 LEUKEMIA, CHRONIC MYELOID; CML
#608516 MAJOR DEPRESSIVE DISORDER; MDD
#154700 MARFAN SYNDROME; MFS
#219700 CYSTIC FIBROSIS; CF
#600807 ASTHMA, SUSCEPTIBILITY TO
#101000 NEUROFIBROMATOSIS, TYPE II; NF2
#109400 BASAL CELL NEVUS SYNDROME; BCNS
#114500 COLORECTAL CANCER; CRC
#171400 MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA; MEN2A
#212065 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia; CDG1A
#603075 MACULAR DEGENERATION, AGE-RELATED, 1; ARMD1
#100800 ACHONDROPLASIA; ACH
#209900 BARDET-BIEDL SYNDROME; BBS
#212750 CELIAC DISEASE; CD
#263200 POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE; ARPKD
#603903 SICKLE CELL ANEMIA
#109150 MACHADO-JOSEPH DISEASE; MJD
#130650 BECKWITH-WIEDEMANN SYNDROME; BWS
#164400 SPINOCEREBELLAR ATAXIA 1; SCA1
#168600 PARKINSON DISEASE; PD
#173900 POLYCYSTIC KIDNEYS
#312750 RETT SYNDROME; RTT
%142450 HERPESVIRUS SENSITIVITY; HV1S
%187310 TEMPERATURE SENSITIVITY COMPLEMENTATION, CELL CYCLE SPECIFIC, K12
%187320 TEMPERATURE SENSITIVITY COMPLEMENTATION, CELL CYCLE SPECIFIC, ts13;
%187330 TEMPERATURE SENSITIVITY COMPLEMENTATION, CELL CYCLE SPECIFIC, ts546;
%187290 TEMPERATURE SENSITIVITY COMPLEMENTATION, CELL CYCLE SPECIFIC, H142;
%111130 BLOOD GROUP--LKE; LKE
%118840 CHROMATE RESISTANCE; CHR
%129150 ECHO VIRUS 11 SENSITIVITY; E11S
%186890 TEAR PROTEIN, ANODAL
%125260 DEFECTIVE INTERFERING PARTICLE INDUCTION, CONTROL OF
%125540 DERMAL RIDGES, PATTERNLESS
%187280 TEMPERATURE SENSITIVITY COMPLEMENTATION, CELL CYCLE SPECIFIC, tsBN51;
#607487 CARDIOMYOPATHY, DILATED, 1N; CMD1N
%116950 TEMPERATURE-SENSITIVE AF8 COMPLEMENT; AF8T
#608149 UNIPARENTAL DISOMY, PATERNAL, CHROMOSOME 14
#120080 COLCHICINE RESISTANCE
%180295 RHABDOMYOSARCOMA, EMBRYONAL, 2; RMSE2
%605711 MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME
%608787 OTOSCLEROSIS 5; OTSC5
#111380 BLOOD GROUP--OK; OK
%603918 HYPERTENSION, ESSENTIAL, SUSCEPTIBILITY TO, 1
#606685 CARDIOMYOPATHY, DILATED, 1L; CMD1L
#607457 GIL BLOOD GROUP
#600320 DIABETES MELLITUS, INSULIN-DEPENDENT, 5; IDDM5
#601588 EPIDERMAL DIFFERENTIATION COMPLEX; EDC
#278760 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F; XPF
#604967 PROTOCADHERIN-BETA GENE CLUSTER
%605598 DIABETES MELLITUS, INSULIN-DEPENDENT, 18; IDDM18
%606215 ATRIOVENTRICULAR SEPTAL DEFECT, SUSCEPTIBILITY TO, 1; AVSD1
#607482 CARDIOMYOPATHY, DILATED, 1M; CMD1M
#607832 FOCAL SEGMENTAL GLOMERULOSCLEROSIS 3; FSGS3
#608890 WAARDENBURG SYNDROME, TYPE IID
%610873 MENARCHE, AGE AT, QUANTITATIVE TRAIT LOCUS 1; MENAQ1
%611144 ABRAXAS BROTHER 1
%603040 TUMOR SUPPRESSOR GENE ON CHROMOSOME 11
#608776 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Il; CDG1L
#215045 CHONDRODYSPLASIA, BLOMSTRAND TYPE; BOCD
%600510 GLAUCOMA-RELATED PIGMENT DISPERSION SYNDROME
#107750 ARBITRARY RESTRICTION POLYMORPHISM 1
#268100 ENHANCED S-CONE SYNDROME; ESCS
#203655 ALOPECIA UNIVERSALIS CONGENITA; ALUNC
#602459 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 15; DFNA15
#602491 HYPERLIPIDEMIA, COMBINED, 1
#603956 CERVICAL CANCER
#604968 PROTOCADHERIN-GAMMA GENE CLUSTER
%611103 ACYL-CoA DEHYDROGENASE FAMILY, MEMBER 9; ACAD9
#130190 ELECTROENCEPHALOGRAPHIC PATTERNS; EEG
%182280 SMALL CELL CANCER OF THE LUNG
#226200 ENTEROKINASE DEFICIENCY
%600321 DIABETES MELLITUS, INSULIN-DEPENDENT, 7; IDDM7
#607250 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY;
#607361 MECKEL SYNDROME, TYPE 3; MKS3
#110800 BLOOD GROUP--I SYSTEM; Ii
#112050 BLOOD GROUP--WRIGHT ANTIGEN; WR
%123550 CRYOGLOBULINEMIA, FAMILIAL MIXED
#162800 CYCLIC HEMATOPOIESIS
%183840 SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 2
#231530 3-@HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY
#239100 HYPEROSTOSIS CORTICALIS GENERALISATA
%300047 MENTAL RETARDATION, X-LINKED 20; MRX20
%308250 IMMUNOGLOBULIN M, LEVEL OF
#600060 DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE 2; DFNB2
%605583 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 25; DFNA25
%605735 PROSTAGLANDIN-ENDOPEROXIDE SYNTHASE DEFICIENCY
%606187 ALZHEIMER DISEASE 7
%606616 DYSLEXIA, SUSCEPTIBILITY TO, 6; DYX6
%606766 AZOOSPERMIA, NONOBSTRUCTIVE
#608557 MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO, 2
#608569 CARDIOMYOPATHY, DILATED, 1O; CMD1O
#609027 INDIAN BLOOD GROUP SYSTEM; IN
#609048 MELANOMA, CUTANEOUS MALIGNANT, 3; CMM3
#610256 APHAKIA, CONGENITAL PRIMARY
#610356 RETINAL CONE DYSTROPHY 3B; RCD3B
%610805 RENAL HYPODYSPLASIA, NONSYNDROMIC, 1
#203300 HERMANSKY-PUDLAK SYNDROME; HPS
#135290 DESMOID DISEASE, HEREDITARY
#179620 RAPH BLOOD GROUP SYSTEM
%181430 SCAPULOPERONEAL MYOPATHY; SPM
%181460 SCHISTOSOMA MANSONI INFECTION, SUSCEPTIBILITY/RESISTANCE TO
#187601 THANATOPHORIC DYSPLASIA, TYPE II; TD2
#200500 ACHEIROPODY
#201400 ACTH DEFICIENCY
#217700 CORNEAL ENDOTHELIAL DYSTROPHY 2; CHED2
#229070 FOLLICLE-STIMULATING HORMONE DEFICIENCY, ISOLATED
#245340 ERYTHROCYTE LACTATE TRANSPORTER DEFECT
#515000 CHLORAMPHENICOL TOXICITY
#600630 UV-SENSITIVE SYNDROME; UVS
#604348 ADVANCED SLEEP-PHASE SYNDROME, FAMILIAL
#604757 CRANIOSYNOSTOSIS, TYPE 2; CRS2
#606858 PREMATURE CHROMOSOME CONDENSATION WITH MICROCEPHALY AND MENTAL RETARDATION
#608629 JOUBERT SYNDROME 3; JBTS3
#609637 HOLOPROSENCEPHALY 5; HPE5
#609924 AMINOACYLASE 1 DEFICIENCY
#108010 ARTERIOVENOUS MALFORMATIONS OF THE BRAIN
%109000 AURICULOOSTEODYSPLASIA
#115196 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 3; CMH3
%126850 DUODENAL ULCER, HYPERPEPSINOGENEMIC I
#142330 HEPATIC ADENOMAS, FAMILIAL
#152430 LONGEVITY
%162820 NEUTROPHIL CHEMOTACTIC RESPONSE; NCR
#162900 NEVUS, KERATINOCYTIC, NONEPIDERMOLYTIC
#181030 SALIVARY GLAND ADENOMA, PLEOMORPHIC
%184400 SPRENGEL DEFORMITY
%191181 SUPPRESSOR OF TUMORIGENICITY 3; ST3
#262400 PITUITARY DWARFISM I
#300622 TN SYNDROME
#300639 MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 2; MRXHF2
#600971 DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE 6; DFNB6
%601086 LATERALITY DEFECTS, AUTOSOMAL DOMINANT
%601318 DIABETES MELLITUS, INSULIN-DEPENDENT, 13; IDDM13
#602083 USHER SYNDROME, TYPE IF; USH1F
%603855 CYSTIC FIBROSIS MODIFIER 1; CFM1
%604442 NONPAPILLARY RENAL CARCINOMA 1
#604966 PROTOCADHERIN-ALPHA GENE CLUSTER
#605218 SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 2; SLEB2
#608361 SPONDYLOEPIPHYSEAL DYSPLASIA, KIMBERLEY TYPE
%609055 CEROID LIPOFUSCINOSIS, NEURONAL, 9; CLN9
#610265 DEAFNESS, AUTOSOMAL RECESSIVE 67; DFNB67
#610878 VESICOURETERAL REFLUX 2; VUR2
%184900 STIFF SKIN SYNDROME
#259500 OSTEOGENIC SARCOMA
#275355 SQUAMOUS CELL CARCINOMA, HEAD AND NECK; HNSCC
%600319 DIABETES MELLITUS, INSULIN-DEPENDENT, 4; IDDM4
#600858 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, WITH WOLFF-PARKINSON-WHITE
#602475 OSSIFICATION OF THE POSTERIOR LONGITUDINAL LIGAMENT OF SPINE; OPLL
#226600 EPIDERMOLYSIS BULLOSA DYSTROPHICA, HALLOPEAU-SIEMENS TYPE; EBR1
%600095 SPLIT-HAND/FOOT MALFORMATION 3; SHFM3
#114550 HEPATOCELLULAR CARCINOMA
#109100 AUTOIMMUNE DISEASE
#169400 PELGER-HUET ANOMALY; PHA
#190320 TRICHODENTOOSSEOUS SYNDROME
#268210 RHABDOMYOSARCOMA 1; RMS1
#601744 SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 1; SLEB1
%606963 PULMONARY DISEASE, CHRONIC OBSTRUCTIVE
#609065 CEREBRAL HEMORRHAGE WITH AMYLOIDOSIS, HEREDITARY, DUTCH TYPE; HCHWAD
%101800 ACRODYSOSTOSIS
#122880 CRANIOFACIAL-DEAFNESS-HAND SYNDROME; CDHS
#129490 ECTODERMAL DYSPLASIA 3; ED3
#131705 TRANSIENT BULLOUS DERMOLYSIS OF THE NEWBORN; TBDN
#180104 RETINITIS PIGMENTOSA 9; RP9
#186000 SYNPOLYDACTYLY 1; SPD1
%194470 ZINC, ELEVATED PLASMA
#204100 LEBER CONGENITAL AMAUROSIS, TYPE II; LCA2
%207950 CHIARI MALFORMATION TYPE II
%227240 EYE COLOR 1; EYCL1
%248310 PLASMODIUM FALCIPARUM BLOOD INFECTION LEVEL
%260800 PENTOSURIA
#300018 DOSAGE-SENSITIVE SEX REVERSAL; DSS
%300030 DEAFNESS, X-LINKED 4, CONGENITAL SENSORINEURAL; DFN4
#300643 ROLANDIC EPILEPSY, MENTAL RETARDATION, AND SPEECH DYSPRAXIA, X-LINKED;
%314300 TORTICOLLIS, KELOIDS, CRYPTORCHIDISM, AND RENAL DYSPLASIA; TKCR
#600974 DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE 7; DFNB7
#601414 RETINITIS PIGMENTOSA 18; RP18
#601544 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 3; DFNA3
%601694 LEPTIN, SERUM LEVELS OF
#603563 SPASTIC PARAPLEGIA 8, AUTOSOMAL DOMINANT; SPG8
%603694 DIABETES MELLITUS, NONINSULIN-DEPENDENT, 3
#604387 NEPHRONOPHTHISIS 3; NPHP3
#606367 INTERLEUKIN 2 RECEPTOR, ALPHA, DEFICIENCY OF
#607473 VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 2
#607572 LEPROSY, SUSCEPTIBILITY TO, 2
#608133 RETINITIS PIGMENTOSA 7; RP7
%608207 KALA-AZAR, SUSCEPTIBILITY TO, 1
%608520 MAJOR DEPRESSIVE DISORDER 1
#608901 CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 5
#609040 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 9; ARVD9
#609597 PARIETAL FORAMINA 2; PFM2
#609886 GLOMERULOCYSTIC KIDNEY DISEASE WITH HYPERURICEMIA AND ISOSTHENURIA
%609981 NATURAL KILLER CELL DEFICIENCY, FAMILIAL ISOLATED
%610185 CEREBELLAR HYPOPLASIA, MENTAL RETARDATION, AND QUADRUPEDAL LOCOMOTION
#610474 CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME
#610706 DEAFNESS, CONGENITAL, WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA
#610733 NOONAN SYNDROME 4; NS4
#610755 MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV; MEN4
%147061 IMMUNOGLOBULIN E CONCENTRATION, SERUM; IGES
#168601 PARKINSON DISEASE, FAMILIAL, TYPE 1; PARK1
#243000 INDIFFERENCE TO PAIN, CONGENITAL, AUTOSOMAL RECESSIVE
#268220 RHABDOMYOSARCOMA 2; RMS2
#270960 AZOOSPERMIA DUE TO PERTURBATIONS OF MEIOSIS
#601626 LEUKEMIA, ACUTE MYELOID; AML
#601631 IRIDOGONIODYSGENESIS, TYPE 1; IRID1
%602089 HEMANGIOMA, CAPILLARY INFANTILE
#230350 GALACTOSE EPIMERASE DEFICIENCY
#123400 CREUTZFELDT-JAKOB DISEASE; CJD
#142945 HOLOPROSENCEPHALY 3; HPE3
#191390 ULCERATIVE COLITIS, SUSCEPTIBILITY TO
%208150 PENA-SHOKEIR SYNDROME, TYPE I
#601457 SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE,
#108985 SVEINSSON CHORIORETINAL ATROPHY; SCRA
#130600 ELLIPTOCYTOSIS, RHESUS-UNLINKED TYPE
#132600 PILOMATRIXOMA
%146550 HYPOTRICHOSIS, MARIE UNNA TYPE
#147891 SMALL PATELLA SYNDROME; SPS
#165500 OPTIC ATROPHY 1; OPA1
#174810 POLYOSTOTIC OSTEOLYTIC DYSPLASIA, HEREDITARY EXPANSILE; HEPOD
%178300 PTOSIS, HEREDITARY CONGENITAL 1; PTOS1
%206500 ANENCEPHALY
#226400 EPIDERMODYSPLASIA VERRUCIFORMIS; EV
#246300 LEPROSY, SUSCEPTIBILITY TO
#262000 BJORNSTAD SYNDROME; BJS
#268300 ROBERTS SYNDROME; RBS
#270100 SITUS INVERSUS VISCERUM
#276904 USHER SYNDROME, TYPE IC; USH1C
%277730 WERNICKE-KORSAKOFF SYNDROME
#278740 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E
#300510 OVARIAN DYSGENESIS 2; ODG2
#304800 DIABETES INSIPIDUS, NEPHROGENIC, X-LINKED
%600057 EXSTROPHY OF BLADDER
%601458 INFLAMMATORY BOWEL DISEASE 2; IBD2
#601539 PEROXISOME BIOGENESIS DISORDERS; PBD
#601553 HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY; HJMD
#601780 CEROID LIPOFUSCINOSIS, NEURONAL, 6; CLN6
#603147 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ic; CDG1C
%603175 SCHIZOPHRENIA 5; SCZD5
#603233 PSEUDOHYPOPARATHYROIDISM, TYPE IB
#604117 VOHWINKEL SYNDROME, VARIANT FORM
#604717 DEAFNESS, AUTOSOMAL DOMINANT 20; DFNA20
#605676 CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR AND KERATODERMA
#608320 CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1; ADCAD1
#608751 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8; CMH8
#226700 EPIDERMOLYSIS BULLOSA LETALIS
#237500 DUBIN-JOHNSON SYNDROME; DJS
#252900 MUCOPOLYSACCHARIDOSIS TYPE IIIA
#269921 SIALURIA
#278730 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D; XPD
#302350 NANCE-HORAN SYNDROME; NHS
#600145 SACRAL DEFECT WITH ANTERIOR MENINGOCELE
#601536 ATHABASKAN BRAINSTEM DYSGENESIS SYNDROME; ABSD
#611162 MALARIA, SUSCEPTIBILITY TO
#190685 DOWN SYNDROME
#277700 WERNER SYNDROME; WRN
#211980 LUNG CANCER
#245200 KRABBE DISEASE
#268000 RETINITIS PIGMENTOSA; RP
#278700 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A; XPA
#302960 CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT; CDPX2
#144700 RENAL CELL CARCINOMA 1; RCC1
#109730 AORTIC VALVE DISEASE
#111400 BLOOD GROUP, P SYSTEM
#137440 GERSTMANN-STRAUSSLER DISEASE; GSD
#148300 KERATOCONUS 1; KTCN1
#150230 TRICHORHINOPHALANGEAL SYNDROME, TYPE II; TRPS2
#172700 PICK DISEASE OF BRAIN
#174500 POLYDACTYLY, PREAXIAL II; PPD2
#261100 MEGALOBLASTIC ANEMIA 1; MGA1
%276400 TWINNING, DIZYGOTIC
#304400 DEAFNESS, CONDUCTIVE, WITH STAPES FIXATION
#311200 OROFACIODIGITAL SYNDROME I; OFD1
#502500 ALZHEIMER DISEASE, SUSCEPTIBILITY TO, MITOCHONDRIAL
#106600 TOOTH AGENESIS, SELECTIVE, 1; STHAG1
#108120 ARTHROGRYPOSIS, DISTAL, TYPE 1; DA1
#116200 CATARACT, ZONULAR PULVERULENT 1; CZP1
#123000 CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT; CMDD
#125851 MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II; MODY2
#131750 EPIDERMOLYSIS BULLOSA DYSTROPHICA, PASINI TYPE
%135500 ZIMMERMANN-LABAND SYNDROME; ZLS
#140000 HAND-FOOT-UTERUS SYNDROME
%143400 MULTICYSTIC RENAL DYSPLASIA, BILATERAL; MRD
%147060 HYPER-IgE SYNDROME
%147421 INCLUSION BODY MYOSITIS
#150699 LEIOMYOMA, UTERINE; UL
%156232 MESOMELIC DYSPLASIA, KANTAPUTRA TYPE
#160150 MYOPATHY, CENTRONUCLEAR, AUTOSOMAL DOMINANT
#169600 BENIGN CHRONIC PEMPHIGUS; BCPM
#173650 KINDLER SYNDROME
#174050 POLYCYSTIC LIVER DISEASE; PCLD
#193100 HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT; ADHR
#193510 WAARDENBURG SYNDROME, TYPE IIA; WS2A
#214150 CEREBROOCULOFACIOSKELETAL SYNDROME 1; COFS1
#215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA
#217300 CORNEA PLANA 2; CNA2
%224690 EAR, PATELLA, SHORT STATURE SYNDROME
#227220 EYE COLOR 3; EYCL3
#228930 FIBULAR APLASIA OR HYPOPLASIA, FEMORAL BOWING AND POLY-, SYN-, AND
#230900 GAUCHER DISEASE, TYPE II
#231300 GLAUCOMA 3, PRIMARY CONGENITAL, A; GLC3A
#234000 FACTOR XII DEFICIENCY
#239000 PAGET DISEASE, JUVENILE
#245480 SPECIFIC GRANULE DEFICIENCY; SGD
#247100 LIPOID PROTEINOSIS OF URBACH AND WIETHE
#248300 MAL DE MELEDA
#251200 MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 1; MCPH1
%252350 MOYAMOYA DISEASE 1; MYMY1
#256731 CEROID LIPOFUSCINOSIS, NEURONAL, 5; CLN5
#264700 VITAMIN D-DEPENDENT RICKETS, TYPE I
%271510 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SPONASTRIME TYPE
#277580 WAARDENBURG-SHAH SYNDROME
#300215 LISSENCEPHALY, X-LINKED, WITH AMBIGUOUS GENITALIA; XLAG
%303700 COLORBLINDNESS, BLUE-MONO-CONE-MONOCHROMATIC TYPE; CBBM
#305100 ECTODERMAL DYSPLASIA 1; ED1
#308800 KERATOSIS FOLLICULARIS SPINULOSA DECALVANS; KFSD
#545000 MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS; MERRF
#600155 HIRSCHSPRUNG DISEASE 2; HSCR2
#600195 VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL; VMCM
#602875 ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE; AMDM
#604370 OVARIAN CANCER, EPITHELIAL
#608404 PLATELET GLYCOPROTEIN IV DEFICIENCY
%609113 TELOMERE LENGTH, MEAN LEUKOCYTE
#609136 PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATING LEUKODYSTROPHY,
#609423 HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO
#610698 MACULAR DEGENERATION, AGE-RELATED, 4; ARMD4
#610965 XFE PROGEROID SYNDROME
#180300 RHEUMATOID ARTHRITIS; RA
#188550 THYROID CARCINOMA, PAPILLARY
#164300 OCULOPHARYNGEAL MUSCULAR DYSTROPHY; OPMD
#170500 HYPERKALEMIC PERIODIC PARALYSIS; HYPP
#175700 GREIG CEPHALOPOLYSYNDACTYLY SYNDROME; GCPS
#202700 NEUTROPENIA, SEVERE CONGENITAL, AUTOSOMAL DOMINANT 1; SCN1
#260350 PANCREATIC CARCINOMA
#269920 INFANTILE SIALIC ACID STORAGE DISORDER
#277300 SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 1; SCDO1
#303600 COFFIN-LOWRY SYNDROME; CLS
#604369 SIALURIA, FINNISH TYPE
#113000 BRACHYDACTYLY, TYPE B1; BDB1
%119530 OROFACIAL CLEFT 1; OFC1
#119540 CLEFT PALATE, ISOLATED; CPI
#139300 AROMATASE EXCESS SYNDROME; AEXS
#146255 HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE
#166000 ENCHONDROMATOSIS, MULTIPLE
#200610 ACHONDROGENESIS, TYPE II; ACG2
#216900 ACHROMATOPSIA 2; ACHM2
#231000 GAUCHER DISEASE, TYPE III
#242650 PRIMARY CILIARY DYSKINESIA; PCD
#243800 JOHANSON-BLIZZARD SYNDROME; JBS
#245150 KEUTEL SYNDROME
#245349 PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY
#256500 NETHERTON SYNDROME; NETH
#256800 INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS; CIPA
#265120 SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 1; SMDP1
#303400 CLEFT PALATE, X-LINKED; CPX
#304700 MOHR-TRANEBJAERG SYNDROME; MTS
#306955 HETEROTAXY, VISCERAL, X-LINKED
#310700 NYSTAGMUS 1, CONGENITAL, X-LINKED; NYS1
#600110 STARGARDT DISEASE 3; STGD3
#601224 POTOCKI-SHAFFER SYNDROME
#603342 SCHIZOPHRENIA 2; SCZD2
#608013 GAUCHER DISEASE, PERINATAL LETHAL
#305000 DYSKERATOSIS CONGENITA, X-LINKED; DKC
#308300 INCONTINENTIA PIGMENTI; IP
#183086 SPINOCEREBELLAR ATAXIA 6; SCA6
#113800 BULLOUS ERYTHRODERMA ICHTHYOSIFORMIS CONGENITA OF BROCQ
#117000 CENTRAL CORE DISEASE OF MUSCLE
#126600 DOYNE HONEYCOMB RETINAL DYSTROPHY; DHRD
#146000 HYPOCHONDROPLASIA; HCH
#154500 TREACHER COLLINS-FRANCESCHETTI SYNDROME; TCOF
#157640 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,
#168300 PARAMYOTONIA CONGENITA OF VON EULENBURG; PMC
#170650 PERIODONTITIS, AGGRESSIVE, 1
#180100 RETINITIS PIGMENTOSA 1; RP1
#180500 RIEGER SYNDROME, TYPE 1; RIEG1
#182940 NEURAL TUBE DEFECTS
#203780 ALPORT SYNDROME, AUTOSOMAL RECESSIVE
#225410 EHLERS-DANLOS SYNDROME, TYPE VII, AUTOSOMAL RECESSIVE
#254200 MYASTHENIA GRAVIS; MG
#254500 MYELOMA, MULTIPLE
%274000 THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME
#277180 VAS DEFERENS, CONGENITAL BILATERAL APLASIA OF; CBAVD
#557000 PEARSON MARROW-PANCREAS SYNDROME
#600791 ENLARGED VESTIBULAR AQUEDUCT; EVA
#601859 AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME; ALPS
#607323 DUANE-RADIAL RAY SYNDROME; DRRS
#607432 LISSENCEPHALY I; LIS1
#609310 COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 2; HNPCC2
#193500 WAARDENBURG SYNDROME, TYPE I; WS1
#252010 MITOCHONDRIAL COMPLEX I DEFICIENCY
#274600 PENDRED SYNDROME; PDS
#308230 IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1; HIGM1
#535000 LEBER OPTIC ATROPHY
#106300 SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1; SPDA1
%118420 CHIARI MALFORMATION TYPE I
#125370 DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY; DRPLA
%140300 HASHIMOTO THYROIDITIS
#162100 AMYOTROPHY, HEREDITARY NEURALGIC; HNA
#178500 PULMONARY FIBROSIS, IDIOPATHIC
#190300 TREMOR, HEREDITARY ESSENTIAL, 1; ETM1
#203200 OCULOCUTANEOUS ALBINISM, TYPE II; OCA2
#219000 FRASER SYNDROME
#223900 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; HSAN3
#253700 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C; LGMD2C
#274150 THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL; TTP
#300257 DANON DISEASE
#310300 EMERY-DREIFUSS MUSCULAR DYSTROPHY, X-LINKED; EDMD
#601104 SUPRANUCLEAR PALSY, PROGRESSIVE, 1; PSNP1
#602668 DYSTROPHIA MYOTONICA 2; DM2
#164500 SPINOCEREBELLAR ATAXIA 7; SCA7
#175200 PEUTZ-JEGHERS SYNDROME; PJS
#600274 FRONTOTEMPORAL DEMENTIA
#125310 CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS
#137750 GLAUCOMA 1, OPEN ANGLE, A; GLC1A
#161200 NAIL-PATELLA SYNDROME; NPS
#167800 PANCREATITIS, HEREDITARY; PCTT
#219800 CYSTINOSIS, NEPHROPATHIC; CTNS
#253600 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A; LGMD2A
#254780 MYOCLONIC EPILEPSY OF LAFORA
#275000 GRAVES DISEASE
#301050 ALPORT SYNDROME, X-LINKED; ATS
#312080 PELIZAEUS-MERZBACHER DISEASE; PMD
#187300 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER;
#300448 ALPHA-THALASSEMIA MYELODYSPLASIA SYNDROME; ATMDS
#269000 SC PHOCOMELIA SYNDROME
#172800 PIEBALD TRAIT; PBT
%131400 EOSINOPHILIA, FAMILIAL
#312863 COMBINED IMMUNODEFICIENCY, X-LINKED; CIDX
#607685 HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC; HES
%604201 HEPATIC FIBROSIS, SEVERE, SUSCEPTIBILITY TO, DUE TO SCHISTOSOMA MANSONI
#604302 RHEUMATOID ARTHRITIS, SYSTEMIC JUVENILE
%138900 GOUT SUSCEPTIBILITY 1
#610799 INVASIVE PNEUMOCOCCAL DISEASE, RECURRENT ISOLATED, 1; IPD1
#121900 GROENOUW TYPE I CORNEAL DYSTROPHY; CDGG1
#153550 CHROMOSOME 5q DELETION SYNDROME
#181000 SARCOIDOSIS
#611040 MICROPHTHALMIA, POSTERIOR, WITH RETINITIS PIGMENTOSA, FOVEOSCHISIS,
#136520 FOVEAL HYPOPLASIA AND PRESENILE CATARACT SYNDROME
#608161 MACULAR DYSTROPHY, VITELLIFORM, ADULT-ONSET
%160700 MYOPIA 2; MYP2
#153700 MACULAR DYSTROPHY, VITELLIFORM; VMD
#601495 AGAMMAGLOBULINEMIA, NON-BRUTON TYPE, AUTOSOMAL RECESSIVE
#610253 CHROMOSOME 9q SUBTELOMERIC DELETION SYNDROME
#271150 SPINAL MUSCULAR ATROPHY, TYPE IV; SMA4