81. Brazilian Oral Research - apert syndrome, or acrocephalosyndactyly type I, is a craniofacial dysostosis, The study population consisted of 5 patients with apert syndrome. http://www.scielo.br/scielo.php?pid=S1806-83242004000100007&script=sci_arttext&t

82. 100800 ACHONDROPLASIA; ACH 101200 APERT SYNDROME 101400 100800 ACHONDROPLASIA; ACH 101200 apert syndrome 101400 SAETHRECHOTZENSYNDROME; SCS 101600 PFEIFFER SYNDROME 102900 ADENOSINE TRIPHOSPHATE, http://linkage.rockefeller.edu/wli/omim/multi.txt

#100800 : ACHONDROPLASIA; ACH #101200 : APERT SYNDROME #101400 : SAETHRE-CHOTZEN SYNDROME; SCS #101600 : PFEIFFER SYNDROME #102900 : ADENOSINE TRIPHOSPHATE, ELEVATED, OF ERYTHROCYTES #103470 : ALBINISM, OCULAR, WITH SENSORINEURAL DEAFNESS #103500 : TIETZ SYNDROME #103580 : ALBRIGHT HEREDITARY OSTEODYSTROPHY; AHO #103900 : ALDOSTERONISM, SENSITIVE TO DEXAMETHASONE #104300 : ALZHEIMER DISEASE; AD #104310 : ALZHEIMER DISEASE 2; AD2 #105120 : AMYLOIDOSIS V #105200 : AMYLOIDOSIS, FAMILIAL VISCERAL #105400 : AMYOTROPHIC LATERAL SCLEROSIS 1; ALS1 #105650 : DIAMOND-BLACKFAN ANEMIA, AUTOSOMAL DOMINANT #105830 : ANGELMAN SYNDROME; AS #106200 : ANIRIDIA; AN1 #106600 : HYPODONTIA, AUTOSOMAL DOMINANT #107250 : ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS; ASMD #107480 : TOWNES-BROCKS SYNDROME; TBS #107750 : ARBITRARY RESTRICTION POLYMORPHISM 1 #108300 : STICKLER SYNDROME, TYPE I; STL1 #108340 : ARYL HYDROCARBON HYDROXYLASE INDUCIBILITY #108500 : ATAXIA, PERIODIC VESTIBULOCEREBELLAR #108900 : ATRIAL SEPTAL DEFECT WITH ATRIOVENTRICULAR CONDUCTION DEFECTS #109100 : AUTOIMMUNE DISEASES #109400 : BASAL CELL NEVUS SYNDROME; BCNS #109800 : BLADDER CANCER #110450 : BLOOD GROUPCOLTON; CO #110500 : BLOOD GROUPDIEGO SYSTEM; DI #110800 : BLOOD GROUPI SYSTEM; Ii #111500 : BLOOD GROUPPRIVATE SYSTEMS #111600 : BLOOD GROUPPUBLIC SYSTEMS #111690 : BLOOD GROUPRHESUS SYSTEM E POLYPEPTIDE; RHE #112010 : BLOOD GROUPWALDNER TYPE; WD #112050 : BLOOD GROUPWRIGHT ANTIGEN; Wr #112100 : BLOOD GROUPYt SYSTEM; YT #113650 : BRANCHIOOTORENAL DYSPLASIA #113800 : BULLOUS ERYTHRODERMA ICHTHYOSIFORMIS CONGENITA OF BROCQ #113970 : BURKITT LYMPHOMA; BL #114400 : CANCER #114480 : CANCER OF THE BREAST, FAMILIAL; BCS #114500 : CANCER OF COLON #115150 : CARDIOFACIOCUTANEOUS SYNDROME #115195 : CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 2; CMH2 #115196 : CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 3; CMH3 #115197 : CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4; CMH4 #115470 : CAT EYE SYNDROME; CES #116200 : CATARACT, ZONULAR PULVERULENT 1; CZP1 #116920 : LEUKOCYTE ADHESION DEFICIENCY, TYPE I; LAD #117000 : CENTRAL CORE DISEASE OF MUSCLE #117200 : CEREBELLAR ATAXIA #118200 : CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B; CMT1B #118220 : CHARCOT-MARIE-TOOTH DISEASE, TYPE 1A; CMT1A #118300 : CHARCOT-MARIE-TOOTH DISEASE AND DEAFNESS #118450 : ALAGILLE SYNDROME; AGS #119600 : CLEIDOCRANIAL DYSPLASIA; CCD #120080 : COLCHICINE RESISTANCE #120330 : RENAL-COLOBOMA SYNDROME; ONCR #120790 : COMPLEMENT COMPONENT 4, PARTIAL DEFICIENCY OF #120970 : CONE-ROD DYSTROPHY 2; CORD2 #121000 : CONGENITAL HEART DISEASE #121200 : EPILEPSY, BENIGN NEONATAL, 1; EBN1 #121201 : EPILEPSY, BENIGN NEONATAL, 2; EBN2 #121210 : CONVULSIONS, FEBRILE #121900 : CORNEAL DYSTROPHY, GRANULAR TYPE #122100 : CORNEAL DYSTROPHY, JUVENILE EPITHELIAL, OF MEESMANN #122200 : CORNEAL DYSTROPHY, LATTICE TYPE I; CDL1 #122700 : COUMARIN RESISTANCE #122880 : CRANIOFACIAL-DEAFNESS-HAND SYNDROME; CDHS #123150 : JACKSON-WEISS SYNDROME; JWS #123400 : CREUTZFELDT-JAKOB DISEASE; CJD #123450 : CRI-DU-CHAT SYNDROME #123500 : CROUZON SYNDROME #123700 : CUTIS LAXA #123790 : CUTIS GYRATA SYNDROME OF BEARE AND STEVENSON #124200 : DARIER-WHITE DISEASE; DAR #124500 : DEAFNESS, CONGENITAL, WITH KERATOPACHYDERMIA AND CONSTRICTIONS OF FINGERS AND TOES #124900 : DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 1; DFNA1 #125310 : DEMENTIA, HEREDITARY MULTI-INFARCT TYPE #125700 : DIABETES INSIPIDUS, NEUROHYPOPHYSEAL TYPE #125800 : DIABETES INSIPIDUS, RENAL TYPE #125850 : DIABETES MELLITUS, AUTOSOMAL DOMINANT #125851 : DIABETES MELLITUS, AUTOSOMAL DOMINANT, TYPE II #125853 : DIABETES MELLITUS, TYPE II #126600 : DOYNE HONEYCOMB RETINAL DYSTROPHY; DHRD #127300 : DYSCHONDROSTEOSIS #128230 : DYSTONIA, PROGRESSIVE, WITH DIURNAL VARIATION #129490 : ECTODERMAL DYSPLASIA 3, ANHIDROTIC; ED3 #129750 : ECTOPIA PUPILLAE #130000 : EHLERS-DANLOS SYNDROME, TYPE I; EDS1 #130010 : EHLERS-DANLOS SYNDROME, TYPE II; EDS2 #130050 : EHLERS-DANLOS SYNDROME, TYPE IV, AUTOSOMAL DOMINANT #130060 : EHLERS-DANLOS SYNDROME, TYPE VII, AUTOSOMAL DOMINANT #130190 : ELECTROENCEPHALOGRAPHIC PATTERNS; EEG #130600 : ELLIPTOCYTOSIS, RHESUS-UNLINKED TYPE #130650 : BECKWITH-WIEDEMANN SYNDROME; BWS #131705 : TRANSIENT BULLOUS DERMOLYSIS OF THE NEWBORN; TBDN #131750 : EPIDERMOLYSIS BULLOSA DYSTROPHICA, PASINI TYPE #131760 : EPIDERMOLYSIS BULLOSA HERPETIFORMIS, DOWLING-MEARA TYPE #131800 : EPIDERMOLYSIS BULLOSA OF HANDS AND FEET #131850 : EPIDERMOLYSIS BULLOSA, PRETIBIAL #131900 : EPIDERMOLYSIS BULLOSA SIMPLEX, KOEBNER TYPE; EBS2 #131960 : EPIDERMOLYSIS BULLOSA SIMPLEX WITH MOTTLED PIGMENTATION #132000 : EPIDERMOLYSIS BULLOSA WITH CONGENITAL LOCALIZED ABSENCE OF SKIN AND DEFORMITY OF NAILS #132400 : EPIPHYSEAL DYSPLASIA, MULTIPLE, 1; EDM1 #132450 : EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND CONDUCTIVE DEAFNESS #133200 : ERYTHROKERATODERMIA VARIABILIS; EKV #135290 : DESMOID DISEASE, HEREDITARY #136120 : FISH-EYE DISEASE; FED #136520 : FOVEAL HYPOPLASIA AND PRESENILE CATARACT SYNDROME #136540 : FRAGILE SITE 10q23 #136560 : FRAGILE SITE 11q13 #136570 : FRAGILE SITE 16p12 #136580 : FRAGILE SITE 16q22; FRA16A #136590 : FRAGILE SITE 20p11 #136610 : FRAGILE SITE 2q11 #136620 : FRAGILE SITE 10q25 #136630 : FRAGILE SITE, FOLIC ACID TYPE, RARE, fra(12)(q13.1); FRA12A #136640 : FRAGILE SITE 9q32 #136650 : FRAGILE SITE 3p14.2 #136660 : FRAGILE SITE 17p12 #136670 : FRAGILE SITE: ADDITIONAL TYPES #136680 : FRASIER SYNDROME #136880 : FUNDUS ALBIPUNCTATUS #136900 : FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY; SFD #137215 : GASTRIC CANCER #137357 : GENITOURINARY DYSPLASIA COMPONENT OF WAGR SYNDROME; GUD #137440 : GERSTMANN-STRAUSSLER DISEASE; GSD #137600 : IRIDOGONIODYSGENESIS, TYPE 2; IRID2 #137750 : GLAUCOMA 1, OPEN ANGLE, A; GLC1A #140000 : HAND-FOOT-UTERUS SYNDROME #140340 : HAW RIVER SYNDROME #140700 : HEINZ BODY ANEMIAS #141200 : HEMATURIA, BENIGN FAMILIAL; BFH #141500 : MIGRAINE, FAMILIAL HEMIPLEGIC, 1; MHP1 #141749 : HEMOGLOBIN F, HEREDITARY PERSISTENCE OF, PANCELLULAR #141750 : HEMOGLOBIN H-RELATED MENTAL RETARDATION #142309 : HEMOGLOBINVARIANTS FOR WHICH THE CHAIN CARRYING THE MUTATION IS UNKNOWN OR UNCERTAIN #142623 : HIRSCHSPRUNG DISEASE #142680 : PERIODIC FEVER, FAMILIAL, AUTOSOMAL DOMINANT #142900 : HOLT-ORAM SYNDROME; HOS #142945 : HOLOPROSENCEPHALY 3; HPE3 #143020 : HPA I RECOGNITION POLYMORPHISM, BETA-GLOBIN-RELATED; HPA1 #143465 : ATTENTION DEFICIT-HYPERACTIVITY DISORDER; ADHD #143500 : HYPERBILIRUBINEMIA I #144010 : HYPERCHOLESTEROLEMIA, FAMILIAL, TYPE B #144250 : HYPERLIPIDEMIA, FAMILIAL COMBINED #144400 : HYPERLIPOPROTEINEMIA, TYPE II #144700 : RENAL CELL CARCINOMA 1; RCC1 #145000 : HYPERPARATHYROIDISM 1; HRPT1 #145500 : HYPERTENSION, ESSENTIAL #145600 : MALIGNANT HYPERTHERMIA SUSCEPTIBILITY 1; MHS1 #145650 : HYPERTHYROIDISM, FAMILIAL, DUE TO INAPPROPRIATE THYROTROPIN SECRETION #145900 : HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS #145980 : HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE I; HHC1 #146000 : HYPOCHONDROPLASIA; HCH #146150 : HYPOMELANOSIS OF ITO; HMI #146200 : HYPOPARATHYROIDISM, FAMILIAL ISOLATED; FIH #146300 : HYPOPHOSPHATASIA, ADULT TYPE #146510 : PALLISTER-HALL SYNDROME; PHS #146800 : ICHTHYOSIS, BULLOUS TYPE #147480 : INTRAHEPATIC CHOLESTASIS OF PREGNANCY #147791 : JACOBSEN SYNDROME; JBS #148190 : KERATITIS, HEREDITARY #148700 : KERATOSIS PALMOPLANTARIS STRIATA I #148820 : KLEIN-WAARDENBURG SYNDROME #149400 : KOK DISEASE #150230 : LANGER-GIEDION SYNDROME; LGS #150699 : LEIOMYOMA, UTERINE #151210 : THANATOPHORIC DYSPLASIA VARIANTS #151623 : LI-FRAUMENI SYNDROME; LFS #152700 : LUPUS ERYTHEMATOSUS, SYSTEMIC; SLE #153100 : LYMPHEDEMA, HEREDITARY I #153480 : MACROCEPHALY, MULTIPLE LIPOMAS, AND HEMANGIOMATA #153550 : 5q- SYNDROME #153800 : MACULAR DEGENERATION, AGE-RELATED, 2; ARMD2 #154700 : MARFAN SYNDROME; MFS #154780 : MARSHALL SYNDROME #155240 : MEDULLARY THYROID CARCINOMA, FAMILIAL; MTC1 #155601 : MELANOMA, CUTANEOUS MALIGNANT, 2; CMM2 #156400 : METAPHYSEAL CHONDRODYSPLASIA, MURK JANSEN TYPE #156500 : METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE; MCDS #156550 : KNIEST DYSPLASIA #156575 : MEVALONATE UPTAKE FACILITATOR; MEV #156810 : MICROGASTRIA-LIMB REDUCTION DEFECTS ASSOCIATION; MLRD #157170 : HOLOPROSENCEPHALY 2; HPE2 #158000 : MONILETHRIX #158170 : MONOSOMY 9p SYNDROME #158320 : MUIR-TORRE SYNDROME; MTS #158350 : COWDEN DISEASE; CD #158700 : MUSCULAR ATROPHY, PROGRESSIVE, WITH AMYOTROPHIC LATERAL SCLEROSIS #158810 : MYOPATHY, BENIGN CONGENITAL, WITH CONTRACTURES #160120 : MYOKYMIA WITH PERIODIC ATAXIA #160800 : MYOTONIA CONGENITA, DOMINANT #161200 : NAIL-PATELLA SYNDROME; NPS #161800 : NEMALINE MYOPATHY 1, AUTOSOMAL DOMINANT; NEM1 #162210 : NEUROFIBROMATOSIS, FAMILIAL SPINAL #162300 : MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB; MEN2B #162500 : NEUROPATHY, HEREDITARY, WITH LIABILITY TO PRESSURE PALSIES; HNPP #163500 : NIGHT BLINDNESS, CONGENITAL STATIONARY; CSNB3 #164300 : OCULOPHARYNGEAL MUSCULAR DYSTROPHY; OPMD #164400 : SPINOCEREBELLAR ATAXIA 1; SCA1 #164970 : ONCOGENE TRK #166200 : OSTEOGENESIS IMPERFECTA, TYPE I #166210 : OSTEOGENESIS IMPERFECTA CONGENITA; OIC #166220 : OSTEOGENESIS IMPERFECTA, TYPE IV; OI4 #166710 : OSTEOPOROSIS, INVOLUTIONAL #167200 : PACHYONYCHIA CONGENITA, JADASSOHN-LEWANDOWSKY TYPE #167210 : PACHYONYCHIA CONGENITA, JACKSON-LAWLER TYPE #167800 : PANCREATITIS, HEREDITARY; PCTT #168300 : PARAMYOTONIA CONGENITA OF VON EULENBURG; PMC #168600 : PARKINSON DISEASE; PD #168601 : PARKINSON DISEASE, AUTOSOMAL DOMINANT LEWY BODY #168610 : PALLIDOPONTONIGRAL DEGENERATION; PPND #169150 : PATTERNED DYSTROPHY OF RETINAL PIGMENT EPITHELIUM #170400 : PERIODIC PARALYSIS I #170500 : PERIODIC PARALYSIS II #171300 : PHEOCHROMOCYTOMA #171400 : MULTIPLE ENDOCRINE NEOPLASIA, TYPE II; MEN2 #172700 : PICK DISEASE OF BRAIN #172800 : PIEBALD TRAIT; PBT #173100 : PITUITARY DWARFISM DUE TO ISOLATED GROWTH HORMONE DEFICIENCY, AUTOSOMAL DOMINANT #173900 : POLYCYSTIC KIDNEYS #174200 : POLYDACTYLY, POSTAXIAL, TYPE A1 #174800 : MCCUNE-ALBRIGHT SYNDROME; MAS #174900 : POLYPOSIS, JUVENILE INTESTINAL #175200 : PEUTZ-JEGHERS SYNDROME; PJS #175700 : GREIG CEPHALOPOLYSYNDACTYLY SYNDROME; GCPS #176200 : PORPHYRIA VARIEGATA #176270 : PRADER-WILLI SYNDROME; PWS #176410 : PRECOCIOUS PUBERTY, MALE-LIMITED #176450 : SACRAL AGENESIS SYNDROME #176500 : FAMILIAL BRITISH DEMENTIA; FBD #176807 : PROSTATE CANCER #177170 : PSEUDOACHONDROPLASTIC DYSPLASIA #177200 : PSEUDOALDOSTERONISM #177720 : PSEUDOHYPERKALEMIA, FAMILIAL, DUE TO RED CELL LEAK #177735 : PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT #177820 : PSEUDO-VON WILLEBRAND DISEASE #179613 : RECOMBINANT CHROMOSOME 8 SYNDROME #179800 : RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL DOMINANT #180100 : RETINITIS PIGMENTOSA 1; RP1 #180103 : RETINITIS PIGMENTOSA 8; RP8 #180500 : RIEGER SYNDROME, TYPE 1; RIEG1 #180645 : RNA, U17A SMALL NUCLEOLAR; RNU17A #180646 : RNA, E2 SMALL NUCLEOLAR; RNE2 #180849 : RUBINSTEIN SYNDROME #181030 : SALIVARY GLAND ADENOMA, PLEOMORPHIC #181350 : EMERY-DREIFUSS MUSCULAR DYSTROPHY, AUTOSOMAL DOMINANT; EDMD2 #181450 : ULNAR-MAMMARY SYNDROME; UMS #181500 : SCHIZOPHRENIA; SCZD #182212 : SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME #182230 : SEPTOOPTIC DYSPLASIA #182290 : SMITH-MAGENIS SYNDROME; SMS #183086 : SPINOCEREBELLAR ATAXIA 6; SCA6 #183090 : SPINOCEREBELLAR ATAXIA 2; SCA2 #183350 : SPLENOMEGALY WITH HYPERSPLENISM #183900 : SPONDYLOEPIPHYSEAL DYSPLASIA, CONGENITAL TYPE #184250 : SPONDYLOEPIMETAPHYSEAL DYSPLASIA, STRUDWICK TYPE #184500 : STEATOCYSTOMA MULTIPLEX #184700 : POLYCYSTIC OVARY SYNDROME 1; PCO1 #184840 : STICKLER SYNDROME, TYPE II; STL2 #185000 : STOMATOCYTOSIS I #185800 : SYMPHALANGISM, PROXIMAL; SYM1 #186000 : SYNDACTYLY, TYPE II #186100 : SYNDACTYLY, TYPE III #186500 : MULTIPLE SYNOSTOSES SYNDROME 1; SYNS1 #187300 : TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER; HHT #187600 : THANATOPHORIC DYSPLASIA; TD #187601 : THANATOPHORIC DYSPLASIA WITH KLEEBLATTSCHAEDEL #187950 : THROMBOCYTHEMIA, ESSENTIAL #188050 : THROMBOPHILIA #188055 : THROMBOPHILIA DUE TO DEFICIENCY OF ACTIVATED PROTEIN C COFACTOR #188530 : THYROTROPIN, ALPHA CHAIN #188550 : THYROID CARCINOMA, PAPILLARY #188570 : THYROID HORMONE RESISTANCE #188890 : TOBACCO ADDICTION #190320 : TRICHODENTOOSSEOUS SYNDROME #190685 : TRISOMY 21 #191390 : ULCERATIVE COLITIS, SUSCEPTIBILITY TO #192430 : VELOCARDIOFACIAL SYNDROME #192600 : CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1; CMH1 #192605 : VENTRICULAR TACHYCARDIA, FAMILIAL #193510 : WAARDENBURG SYNDROME, TYPE IIA; WS2A #193520 : WATSON SYNDROME #193900 : WHITE SPONGE NEVUS OF CANNON #194050 : WILLIAMS-BEUREN SYNDROME; WBS #194072 : WAGR SYNDROME #194080 : WILMS TUMOR AND PSEUDOHERMAPHRODITISM #194190 : WOLF-HIRSCHHORN SYNDROME; WHS #194470 : ZINC, ELEVATED PLASMA #200100 : ABETALIPOPROTEINEMIA; ABL #200610 : ACHONDROGENESIS, TYPE II; ACG2 #200700 : CHONDRODYSPLASIA, GREBE TYPE #200950 : ACID PHOSPHATASE DEFICIENCY #201250 : ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE #201710 : LIPOID CONGENITAL ADRENAL HYPERPLASIA #202300 : ADRENOCORTICAL CARCINOMA, HEREDITARY; ADCC #202370 : ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL FORM #202400 : AFIBRINOGENEMIA, CONGENITAL #202700 : AGRANULOCYTOSIS, INFANTILE GENETIC #203290 : ALBINISM III #203310 : ALBINISM, OCULAR, AUTOSOMAL RECESSIVE; OAR #203450 : ALEXANDER DISEASE #203655 : ALOPECIA UNIVERSALIS CONGENITA; ALUNC #203780 : ALPORT SYNDROME, AUTOSOMAL RECESSIVE #204000 : AMAUROSIS CONGENITA OF LEBER I #204100 : AMAUROSIS CONGENITA OF LEBER II #204870 : CORNEAL DYSTROPHY, GELATINOUS DROP-LIKE #205000 : AMYOTONIA CONGENITA #205400 : HIGH DENSITY LIPOPROTEIN DEFICIENCY, TANGIER TYPE 1; HDLDT1 #205900 : DIAMOND-BLACKFAN ANEMIA; DBA #209500 : ATRICHIA WITH PAPULAR LESIONS; APL #209880 : AUTONOMIC CONTROL, CONGENITAL FAILURE OF #209920 : BARE LYMPHOCYTE SYNDROME; BLS #209950 : ATYPICAL MYCOBACTERIOSIS, FAMILIAL #211600 : CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 1; PFIC1 #212065 : CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME, TYPE Ia; CDGS1A #212066 : CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME, TYPE II #212070 : CARBOXYPEPTIDASE N DEFICIENCY #212140 : CARNITINE DEFICIENCY, SYSTEMIC PRIMARY; CDSP #214100 : ZELLWEGER SYNDROME; ZS #214450 : GRISCELLI SYNDROME #214700 : CHLORIDE DIARRHEA, FAMILIAL; CLD #215045 : CHONDRODYSPLASIA, BLOMSTRAND TYPE #215100 : RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1; RCDP1 #215150 : CHONDRODYSTROPHY WITH SENSORINEURAL DEAFNESS #215300 : CHONDROSARCOMA #215700 : CITRULLINEMIA, CLASSIC #216411 : COCKAYNE SYNDROME, TYPE III #216900 : ACHROMATOPSIA 2; ACHM2 #217090 : CONJUNCTIVITIS, LIGNEOUS #218700 : HYPOTHYROIDISM, ATHYREOTIC #218800 : CRIGLER-NAJJAR SYNDROME #219200 : CUTIS LAXA WITH GROWTH AND DEVELOPMENTAL DELAY #219700 : CYSTIC FIBROSIS; CF #219750 : CYSTINOSIS, BENIGN OR ADULT NONNEPHROPATHIC TYPE #219900 : CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE #220100 : CYSTINURIA; CSNU #220110 : COMPLEX IV, MITOCHONDRIAL RESPIRATORY CHAIN, DEFICIENCY OF #220290 : DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE 1; DFNB1 #220400 : JERVELL AND LANGE-NIELSEN SYNDROME #220700 : DEAFNESS, AUTOSOMAL RECESSIVE #222000 : DIABETES INSIPIDUS, RENAL TYPE, AUTOSOMAL RECESSIVE #222700 : LYSINURIC PROTEIN INTOLERANCE; LPI #222765 : RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2; RCDP2 #224900 : ECTODERMAL DYSPLASIA, ANHIDROTIC #225400 : EHLERS-DANLOS SYNDROME, TYPE VI #226600 : EPIDERMOLYSIS BULLOSA DYSTROPHICA, HALLOPEAU-SIEMENS TYPE; EBR1 #226650 : EPIDERMOLYSIS BULLOSA JUNCTIONALIS, DISENTIS TYPE #226670 : EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY #226700 : EPIDERMOLYSIS BULLOSA LETALIS #226730 : EPIDERMOLYSIS BULLOSA LETALIS WITH PYLORIC ATRESIA #227300 : FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF; F5F8D #227810 : FANCONI-BICKEL SYNDROME; FBS #230600 : GANGLIOSIDOSIS, GENERALIZED GM1, TYPE II, OR JUVENILE TYPE #230650 : GANGLIOSIDOSIS, GENERALIZED GM1, TYPE III, OR ADULT TYPE #230900 : GAUCHER DISEASE, TYPE II #231000 : GAUCHER DISEASE, TYPE III #231005 : GAUCHER-LIKE DISEASE #231100 : GIANT CELL HEPATITIS, NEONATAL #231300 : GLAUCOMA 3, PRIMARY INFANTILE, A; GLC3A #231900 : GLUTATHIONE SYNTHETASE DEFICIENCY OF ERYTHROCYTES, HEMOLYTIC ANEMIA DUE TO #232220 : GLYCOGEN STORAGE DISEASE Ib #232240 : GLYCOGEN STORAGE DISEASE Ic #233300 : PREMATURE OVARIAN FAILURE, AUTOSOMAL RECESSIVE #233910 : GTP CYCLOHYDROLASE I DEFICIENCY #235400 : HEMOLYTIC-UREMIC SYNDROME; HUS #235700 : HEXOKINASE DEFICIENCY HEMOLYTIC ANEMIA #236270 : HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA DUE TO DEFECT IN COBALAMIN METABOLISM, cbl E COMPLEMENTATION TYPE #237500 : DUBIN-JOHNSON SYNDROME; DJS #238970 : HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA SYNDROME #239200 : HYPERPARATHYROIDISM, NEONATAL SEVERE PRIMARY; NSHPT #240600 : GLYCOGEN STORAGE DISEASE #241200 : HYPOKALEMIC ALKALOSIS WITH HYPERCALCIURIA #241500 : HYPOPHOSPHATASIA, INFANTILE #241510 : HYPOPHOSPHATASIA, CHILDHOOD #241850 : HYPOTHYROIDISM, ATHYROIDAL, WITH SPIKY HAIR AND CLEFT PALATE #242100 : ICHTHYOSIFORM ERYTHRODERMA, BROCQ CONGENITAL, NONBULLOUS FORM #242300 : ICHTHYOSIS CONGENITA #243300 : CHOLESTASIS, INTRAHEPATIC #245150 : KEUTEL SYNDROME #245500 : LACTOSYLCERAMIDOSIS #246200 : LEPRECHAUNISM #247200 : MILLER-DIEKER LISSENCEPHALY SYNDROME; MDLS #248200 : STARGARDT DISEASE 1; STGD1 #248250 : HYPOMAGNESEMIA, PRIMARY #249270 : THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME; TRMA #249700 : MESOMELIC DWARFISM OF THE HYPOPLASTIC ULNA, FIBULA AND MANDIBLE TYPE #249900 : METACHROMATIC LEUKODYSTROPHY DUE TO DEFICIENCY OF CEREBROSIDE SULFATASE ACTIVATOR #250940 : METHYLCOBALAMIN DEFICIENCY, cbl G TYPE #251260 : NIJMEGEN BREAKAGE SYNDROME #252010 : COMPLEX I, MITOCHONDRIAL RESPIRATORY CHAIN, DEFICIENCY OF #252150 : MOLYBDENUM COFACTOR DEFICIENCY #252700 : MUCOPOLYSACCHARIDOSES, UNCLASSIFIED TYPES #253010 : MUCOPOLYSACCHARIDOSIS TYPE IVB #253230 : MUCOPOLYSACCHARIDOSIS TYPE VIII #253300 : SPINAL MUSCULAR ATROPHY I; SMA1 #253400 : SPINAL MUSCULAR ATROPHY III; SMA3 #253550 : SPINAL MUSCULAR ATROPHY II; SMA II #253600 : MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A; LGMD2A #253601 : MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B; LGMD2B #254130 : MIYOSHI MYOPATHY; MM #254500 : MYELOMA, MULTIPLE #254800 : MYOCLONIC EPILEPSY OF UNVERRICHT AND LUNDBORG #255110 : MYOPATHY WITH DEFICIENCY OF CARNITINE PALMITOYLTRANSFERASE II #255120 : HYPOGLYCEMIA, HYPOKETOTIC, WITH DEFICIENCY OF CARNITINE PALMITOYLTRANSFERASE I #255700 : MYOTONIA, GENERALIZED #256000 : LEIGH SYNDROME; LS #256030 : NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE; NEM2 #256050 : NEONATAL OSSEOUS DYSPLASIA I #256300 : NEPHROSIS 1, CONGENITAL, FINNISH TYPE; NPHS1 #256370 : NEPHROTIC SYNDROME, EARLY-ONSET, WITH DIFFUSE MESANGIAL SCLEROSIS #256450 : NESIDIOBLASTOSIS OF PANCREAS #256730 : CEROID LIPOFUSCINOSIS, NEURONAL 1, INFANTILE; CLN1 #256800 : INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS; CIPA #257250 : NIEMANN-PICK DISEASE WITHOUT SPHINGOMYELINASE DEFICIENCY #257950 : MUSCULAR DYSTROPHY, OCULOPHARYNGEAL, AUTOSOMAL RECESSIVE #258100 : OGUCHI DISEASE #259420 : OSTEOGENESIS IMPERFECTA, PROGRESSIVELY DEFORMING, WITH NORMAL SCLERAE #259500 : OSTEOGENIC SARCOMA #260350 : PANCREATIC CARCINOMA #260370 : PANCREATIC AGENESIS, CONGENITAL #260490 : PANOSTOTIC FIBROUS DYSPLASIA #260920 : PERIODIC FEVER, DUTCH TYPE #261100 : MEGALOBLASTIC ANEMIA 1; MGA1 #261500 : PEROXIDASE AND PHOSPHOLIPID DEFICIENCY IN EOSINOPHILS #261550 : PERSISTENT MULLERIAN DUCT SYNDROME, TYPES I AND II; PMDS #262190 : PINEAL HYPERPLASIA, INSULIN-RESISTANT DIABETES MELLITUS, AND SOMATIC ABNORMALITIES #262350 : PITT SYNDROME #262400 : PITUITARY DWARFISM I #262500 : PITUITARY DWARFISM II #262650 : PITUITARY DWARFISM IV #263800 : POTASSIUM AND MAGNESIUM DEPLETION #264070 : HYPERPHENYLALANINEMIA WITH PRIMAPTERINURIA #264350 : PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL RECESSIVE; PHA1 #265120 : PULMONARY ALVEOLAR PROTEINOSIS #265800 : PYCNODYSOSTOSIS #265850 : PYGMY #266130 : PYROGLUTAMICACIDURIA #266140 : PYROPOIKILOCYTOSIS, HEREDITARY; HPP #266500 : REFSUM DISEASE #266510 : REFSUM DISEASE, INFANTILE FORM #267300 : RENAL TUBULAR ACIDOSIS WITH PROGRESSIVE NERVE DEAFNESS #267700 : RETICULOSIS, FAMILIAL HISTIOCYTIC #268000 : RETINITIS PIGMENTOSA; RP #268150 : RH-NULL, REGULATOR TYPE; RHN #268210 : RHABDOMYOSARCOMA 1; RMS1 #268220 : RHABDOMYOSARCOMA 2; RMS2 #268400 : ROTHMUND-THOMSON SYNDROME; RTS #268670 : RUTLEDGE LETHAL MULTIPLE CONGENITAL ANOMALY SYNDROME #269000 : SC PHOCOMELIA SYNDROME #269921 : SIALURIA #270400 : SMITH-LEMLI-OPITZ SYNDROME; SLOS #270970 : SPHEROCYTOSIS, AUTOSOMAL RECESSIVE #274300 : THYROID HORMONE UNRESPONSIVENESS #274400 : THYROID HORMONOGENESIS, GENETIC DEFECT IN, I #275000 : GRAVES DISEASE #275100 : THYROTROPIN DEFICIENCY, ISOLATED #275200 : THYROTROPIN, UNRESPONSIVENESS TO #276300 : TURCOT SYNDROME #277180 : VAS DEFERENS, CONGENITAL BILATERAL APLASIA OF; CBAVD #277440 : VITAMIN D-RESISTANT RICKETS WITH END-ORGAN UNRESPONSIVENESS TO 1,25-DIHYDROXYCHOLECALCIFEROL #277450 : VITAMIN K-DEPENDENT COAGULATION DEFECT #277460 : VITAMIN E, FAMILIAL ISOLATED DEFICIENCY OF; VED #277480 : VON WILLEBRAND DISEASE, RECESSIVE FORM #277580 : WAARDENBURG-SHAH SYNDROME #277610 : WEISSENBACHER-ZWEYMULLER SYNDROME; WZS #278400 : XANTHISM #278730 : XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D; XPD #278750 : XERODERMA PIGMENTOSUM WITH NORMAL DNA REPAIR RATES #278760 : XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F; XPF #278780 : XERODERMA PIGMENTOSUM VII #278800 : XERODERMIC IDIOCY OF DE SANCTIS AND CACCHIONE #300009 : DENT DISEASE #300018 : DOSAGE-SENSITIVE SEX REVERSAL; DSS #300049 : HETEROTOPIA, PERIVENTRICULAR #300067 : LISSENCEPHALY, X-LINKED #300068 : ANDROGEN INSENSITIVITY SYNDROME; AIS #300069 : CARDIOMYOPATHY, DILATED, 3A; CMD3A #300071 : NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2; CSNB2 #300087 : X INACTIVATION, FAMILIAL SKEWED, 1; SXI1 #300183 : NONCOMPACTION OF LEFT VENTRICULAR MYOCARDIUM, FAMILIAL ISOLATED; INVM #300194 : AMME COMPLEX #300400 : SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED; SCIDX1 #301040 : ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED; ATRX #301050 : ALPORT SYNDROME, X-LINKED; ATS #301310 : ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA; ASAT #302045 : CARDIOMYOPATHY, DILATED, X-LINKED; XLCM #302800 : CHARCOT-MARIE-TOOTH PERONEAL MUSCULAR ATROPHY, X-LINKED; CMTX1 #302940 : CHONDRODYSPLASIA PUNCTATA, BRACHYTELEPHALANGIC #302950 : CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE; CDPX1 #302960 : CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT; CDPX2 #303350 : MASA SYNDROME #303600 : COFFIN-LOWRY SYNDROME; CLS #304150 : CUTIS LAXA, X-LINKED #304400 : DEAFNESS, CONDUCTIVE, WITH STAPES FIXATION #305000 : DYSKERATOSIS CONGENITA, X-LINKED; DKC #305390 : EXUDATIVE VITREORETINOPATHY, FAMILIAL, X-LINKED RECESSIVE; EVR2 #306190 : GONADOTROPIN DEFICIENCY; GTD #307000 : HYDROCEPHALUS DUE TO CONGENITAL STENOSIS OF AQUEDUCT OF SYLVIUS; HSAS1; HSAS; HYCX #307810 : HYPOPHOSPHATEMIA, HEREDITARY, TYPE II #308300 : HYPOMELANOSIS OF ITO; HMI #308370 : INFERTILE MALE SYNDROME #308940 : LEIOMYOMATOSIS, ESOPHAGEAL AND VULVAL, WITH NEPHROPATHY #309400 : MENKES SYNDROME #309541 : MENTAL RETARDATION, X-LINKED NONSPECIFIC, TYPE 3; MRX3 #309590 : MENTAL RETARDATION, X-LINKED, WITH GROWTH RETARDATION, DEAFNESS, AND MICROGENITALISM #310468 : NEPHROLITHIASIS, X-LINKED RECESSIVE, WITH RENAL FAILURE; XRN #311150 : OPTICOACOUSTIC NERVE ATROPHY WITH DEMENTIA #311360 : PREMATURE OVARIAN FAILURE 1; POF1 #312300 : REIFENSTEIN SYNDROME #312863 : SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, 2; SCIDX2 #312870 : SIMPSON DYSMORPHIA SYNDROME; SDYS #312900 : SPASTIC PARAPLEGIA, X-LINKED, COMPLICATED #312920 : SPASTIC PARAPLEGIA, X-LINKED, UNCOMPLICATED #313200 : SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1; SMAX1 #313400 : SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, X-LINKED #313900 : THROMBOCYTOPENIA 1; THC #502000 : AGING #502500 : ALZHEIMER DISEASE, SUSCEPTIBILITY TO, MITOCHONDRIAL #510000 : CARDIOMYOPATHY, IDIOPATHIC DILATED, MITOCHONDRIAL #515000 : CHLORAMPHENICOL TOXICITY #520000 : DIABETES-DEAFNESS SYNDROME, MATERNALLY TRANSMITTED #520100 : DIARRHEA, CHRONIC, WITH VILLOUS ATROPHY #530000 : KEARNS-SAYRE SYNDROME; KSS #535000 : LEBER OPTIC ATROPHY #540000 : MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKELIKE EPISODES; MELAS #545000 : MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS; MERRF #550000 : MITOCHONDRIAL DNA BREAKAGE SYNDROME, SECONDARY TO NUCLEAR MUTATION #550500 : MYOGLOBINURIA, RECURRENT #550900 : MYONEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME; MNGIE #551000 : MYOPATHY, MITOCHONDRIAL, LETHAL INFANTILE; LIMM #551200 : NEPHROPATHY, CHRONIC TUBULOINTERSTITIAL #551500 : NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA #553000 : ONCOCYTOMA #555000 : OPHTHALMOPLEGIA, PROGRESSIVE EXTERNAL, AND SCOLIOSIS #556500 : PARKINSON DISEASE #557000 : PEARSON MARROW-PANCREAS SYNDROME #560000 : RENAL TUBULOPATHY, DIABETES MELLITUS, AND CEREBELLAR ATAXIA DUE TO DUPLICATION OF MITOCHONDRIAL DNA #580000 : STREPTOMYCIN OTOTOXICITY #598500 : WOLFRAM SYNDROME, MITOCHONDRIAL FORM #600060 : DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE 2; DFNB2 #600072 : FAMILIAL FATAL INSOMNIA; FFI #600088 : DYSTONIA MUSCULORUM OF MOUSE, HUMAN HOMOLOG OF; DMH; D6S1101 #600101 : DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 2; DFNA2 #600116 : PARKINSON DISEASE, JUVENILE, AUTOSOMAL RECESSIVE; PDJ #600121 : RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 3; RCDP3 #600132 : RETINITIS PIGMENTOSA 14; RP14 #600148 : GLYCEROL KINASE, TESTICULAR, TYPE A #600149 : GLYCEROL KINASE, TESTICULAR, TYPE B #600155 : HIRSCHSPRUNG DISEASE 2; HSCR2 #600195 : VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL; VMCM #600204 : EPIPHYSEAL DYSPLASIA, MULTIPLE, 2; EDM2 #600257 : BOR-DUANE HYDROCEPHALUS CONTIGUOUS GENE SYNDROME #600273 : POLYCYSTIC KIDNEY DISEASE, INFANTILE SEVERE, WITH TUBEROUS SCLEROSIS; PKDTS #600274 : DISINHIBITION-DEMENTIA-PARKINSONISM-AMYOTROPHY COMPLEX; DDPAC #600316 : DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE 3; DFNB3 #600376 : OSLER-RENDU-WEBER SYNDROME 2; ORW2 #600455 : RNA, U15A SMALL NUCLEOLAR; RNU15A #600496 : MATURITY-ONSET DIABETES OF THE YOUNG, TYPE III; MODY3 #600513 : EPILEPSY, NOCTURNAL FRONTAL LOBE, TYPE 1 #600648 : NEVUS, EPIDERMAL, EPIDERMOLYTIC HYPERKERATOTIC TYPE #600649 : HYPOGLYCEMIA, HYPOKETOTIC, WITH DEFICIENCY OF CARNITINE PALMITOYLTRANSFERASE II #600651 : FRAGILE SITE 11B; FRA11B #600680 : CEROID LIPOFUSCINOSIS, JUVENILE NEURONAL, WITH GRANULAR OSMIOPHILIC DEPOSITS #600791 : DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE 4; DFNB4 #600802 : SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE #600885 : BERLIN BREAKAGE SYNDROME #600886 : HYPERFERRITINEMIA-CATARACT SYNDROME #600955 : ENDOCRINOPATHY, MULTIPLE, DUE TO IMPAIRED PROCESSING OF PROHORMONES #600962 : NONEPIDERMOLYTIC PALMOPLANTAR KERATODERMA; NEPPK #600969 : EPIPHYSEAL DYSPLASIA, MULTIPLE, 3; EDM3 #600972 : ACHONDROGENESIS, TYPE IB; ACG1B #601001 : EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE #601003 : BRODY MYOPATHY #601071 : DEAFNESS, AUTOSOMAL RECESSIVE 9; DFNB9 #601173 : MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE #601198 : HYPOCALCEMIA, AUTOSOMAL DOMINANT #601224 : DEFECT 11 CONTIGUOUS GENE SYNDROME #601287 : MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2F; LGMD2F #601369 : DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 9; DFNA9 #601400 : SQUAMOUS CELL CARCINOMA, HEAD AND NECK #601407 : DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2; NIDDM2 #601419 : DESMIN-RELATED MYOPATHY #601457 : SEVERE COMBINED IMMUNODEFICIENCY, B CELL-NEGATIVE #601462 : MYASTHENIC SYNDROME, SLOW-CHANNEL CONGENITAL; SCCMS #601495 : AGAMMAGLOBULINEMIA, NON-BRUTON TYPE #601508 : PARKINSON DISEASE, FAMILIAL, TYPE 1; PARK1 #601539 : PEROXISOME BIOGENESIS DISORDERS; PBD #601543 : DEAFNESS, AUTOSOMAL DOMINANT 8; DFNA8 #601544 : DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 3; DFNA3 #601547 : CATARACT, CONGENITAL, CERULEAN TYPE, 2; CCA2 #601588 : EPIDERMAL DIFFERENTIATION COMPLEX; EDC #601630 : FRONTOTEMPORAL LOBE DEMENTIA #601631 : IRIDOGONIODYSGENESIS, TYPE 1; IRID1 #601634 : NEURAL TUBE DEFECT, FOLATE-SENSITIVE #601665 : OBESITY #601675 : TRICHOTHIODYSTROPHY; TTD #601678 : BARTTER SYNDROME, ANTENATAL HYPERCALCIURIC FORM #601696 : NOVELTY SEEKING PERSONALITY TRAIT #601705 : T-CELL IMMUNODEFICIENCY, CONGENITAL ALOPECIA, AND NAIL DYSTROPHY #601718 : RETINITIS PIGMENTOSA 19; RP19 #601777 : CONE-ROD DYSTROPHY 6; CORD6 #601803 : PALLISTER-KILLIAN SYNDROME; PKS #601808 : CHROMOSOME 18q DELETION SYNDROME #601820 : PERSISTENT HYPERINSULINEMIC HYPOGLYCEMIA OF INFANCY #601842 : DEAFNESS, AUTOSOMAL DOMINANT 12; DFNA12 #601847 : CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2; PFIC2 #601850 : RETINITIS PIGMENTOSA-DEAFNESS SYNDROME 1, AUTOSOMAL DOMINANT #601859 : AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME; ALPS #601885 : CATARACT, ZONULAR PULVERULENT 3; CZP3 #601887 : MALIGNANT HYPERTHERMIA SUSCEPTIBILITY 5; MHS5 #602036 : ERYTHROKERATODERMA, PROGRESSIVE SYMMETRIC #602079 : TRIMETHYLAMINURIA #602093 : CONE DYSTROPHY 3; COD3 #602347 : CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3 #602459 : DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 15; DFNA15 #602485 : HYPERINSULINISM, AUTOSOMAL DOMINANT #602579 : CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME, TYPE Ib #602588 : BRANCHIOOTIC SYNDROME #602849 : MUENKE SYNDROME #603034 : ENDPLATE ACETYLCHOLINESTERASE DEFICIENCY; EAD #603041 : MYONEUROGASTROINTESTINAL ENCEPHALOMYOPATHY SYNDROME #603174 : HOMOCYSTEINEMIA #603223 : RNA, U22 SMALL NUCLEOLAR #603224 : RNA, U25 SMALL NUCLEOLAR #603225 : RNA, U26 SMALL NUCLEOLAR #603226 : RNA, U27 SMALL NUCLEOLAR #603227 : RNA, U28 SMALL NUCLEOLAR #603228 : RNA, U29 SMALL NUCLEOLAR #603229 : RNA, U30 SMALL NUCLEOLAR #603230 : RNA, U31 SMALL NUCLEOLAR #603239 : RNA, U17B SMALL NUCLEOLAR; RNU17B #603373 : HYPERTHYROIDISM, FAMILIAL GESTATIONAL #603471 : CITRULLINEMIA, ADULT-ONSET TYPE II; CTLN2 #603545 : ENLARGED VESTIBULAR AQUEDUCT SYNDROME #603554 : OMENN SYNDROME #603568 : RNA, U73 SMALL NUCLEOLAR #603596 : POLYDACTYLY #603629 : DEAFNESS, AUTOSOMAL RECESSIVE 21; DFNB21 #603635 : RNA, U21 SMALL NUCLEOLAR; RNU21 #603829 : VENTRICULAR FIBRILLATION, IDIOPATHIC; IVF #603830 : LONG QT SYNDROME 3; LQT3 #603902 : DYSERYTHROPOIETIC ANEMIA, CONGENITAL, IRISH OR WEATHERALL TYPE #603903 : SICKLE CELL ANEMIA #603909 : AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE II #604012 : RNA, U20 SMALL NUCLEOLAR; RNU20 #604091 : HIGH DENSITY LIPOPROTEIN DEFICIENCY, FAMILIAL

83. Abnormalities In Cartilage And Bone Development In The Apert Syndrome FGFR2+/S25 apert syndrome is an autosomal dominant disorder characterized by malformations Key words apert syndrome, Fibroblast growth factor receptor 2, Mouse, http://dev.biologists.org/cgi/content/abstract/132/15/3537

QUICK SEARCH: [advanced] Author: Keyword(s): Home Help Feedback Subscriptions ... Table of Contents First published online 23 June 2005 doi: 10.1242/dev.01914 Development Published by The Company of Biologists This Article Figures Only Full Text Full Text (PDF) ... Supplementary Material All Versions of this Article: dev.01914v1 most recent Alert me when this article is cited Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Download to citation manager PubMed PubMed Citation Articles by Wang, Y. Articles by Jabs, E. W. Abnormalities in cartilage and bone development in the Apert syndrome FGFR2 mouse Yingli Wang Ran Xiao Fan Yang Baktiar O. Karim Anthony J. Iacovelli Juanliang Cai Charles P. Lerner Joan T. Richtsmeier Jen M. Leszl Cheryl A. Hill Kai Yu David M. Ornitz Jennifer Elisseeff David L. Huso and Ethylin Wang Jabs Institute of Genetic Medicine, Department of Pediatrics, The Johns Hopkins University School of Medicine, 733 North Broadway, Baltimore, MD 21205, USA Department of Comparative Medicine, The Johns Hopkins University School of Medicine, 733 North Broadway, Baltimore, MD 21205, USA

84. OB-GYN-L Messages For August, 1996: Re: Apert's Syndrome Support Groups apert syndrome. About Apert 9 Jones Street New York City, NY 10014 Phone(212)6457038Contact Augusta. apert syndrome Pen Pals PO Box 115 Providence, http://forums.obgyn.net/ob-gyn-l/OBGYNL.9608/0273.html

-VISIT OUR OTHER FORUMS- OB-GYN-L Ultrasound Ultrasound History Physicians-in-Training Tech Talk OBSTET-L (portuguese) OBGIN-L (spanish) Nursing Re: Apert's syndrome support groups From: fuf@gulf.net Mon Aug 12 23:03:02 1996 Messages sorted by: [ date ] [ thread ] [ subject ] [ author ] Next message: WLarimore@aol.com: "Re: Contraception References needed" Previous message: TheMorenos@aol.com: "Apert's syndrome support groups" Maybe in reply to: TheMorenos@aol.com: "Apert's syndrome support groups" Dr. Moreno (and members of The List), The most complete list of support groups for genetic conditions can be found at the following web address: http://www.kumc.edu/GEC/support/supgroup.html Apert syndrome About Apert 9 Jones Street New York City, NY 10014 Phone:(212)645-7038 Contact: Augusta Apert Syndrome Pen Pals PO Box 115 Providence, RI 02901 Phone:(401)421-9076 Contact: Christine Bucci I hope this information is helpful. Gary Gary E. Kleinman, MD Perinatologist/Geneticist University of FL/Pensacola 5045 Carpenter Creek Drive Pensacola, FL 32503 904 484-9400 Next message: WLarimore@aol.com: "Re: Contraception References needed"

85. Apert Syndrome apert syndrome Pen Pal Network,. PO Box 115. Providence, RI 02901. (401) 4219076.apert syndrome Support Group,. 8708 Kathy St. St. Louis, MO 63126 http://www.childhealthinfo.com/apert-syndrome.htm

APERT SYNDROME (See also CRANIOFACIAL DISORDERS); Apert Support and Information Network, 1626 Redwood Ave Redwood City, CA 94061 (415) 361-1095 (voice/fax) Apert Syndrome Pen Pal Network, PO Box 115 Providence, RI 02901 Apert Syndrome Support Group, 8708 Kathy St St. Louis, MO 63126 [Home] [Printed Guide] [Child Care for the '90's] [Links] ... MoreInfo@ChildHealthInfo.com

86. Apert Syndrome apert syndrome is a genetic disease. It can be inherited or it may occur apert syndrome is transmitted as an autosomal dominant trait (which means that http://www.shands.org/health/information/article/001581.htm

Disease Injury Nutrition Poison ... Syndactyly Apert syndrome Definition: Apert syndrome is a genetic disease. It can be inherited or it may occur without a known family history. It is characterized by premature closure of the seams between the skull bones, which results in a peaked head and an unusual facial appearance. Alternative Names: Acrocephalosyndactyly Causes, incidence, and risk factors: Apert syndrome is transmitted as an autosomal dominant trait (which means that only one parent needs to have the condition for a child to potentially be affected). Some cases also appear spontaneously without a family history. The condition is caused by mutations in a gene called fibroblast growth factor receptor 2. This mutation causes some of the bony sutures of the skull close prematurely (a process called craniosynostosis) which can cause asymmetric growth and give the head a distorted shape. The face is distinctive looking and there may be full-length webbing or fusion between the 2nd, 3rd and 4th fingers, as well as the toes. In addition, as the child grows, the bones in the hands and feet become progressively fused, which reduces flexibility and function. There are several other syndromes which have a similar appearance and include craniosynostosis (premature suture fusion): Carpenter syndrome (kleeblattschadel, cloverleaf skull deformity)

87. Disease - Apert Syndrome - Detroit, Michigan Disease apert syndrome - courtesy of Henry Ford Health System of Detroit, Michigan. http://www.henryfordhealth.org/12672.cfm

3D Tour of the Vattikuti Institute About the Institute The Vattikuti Institute Prostatectomy Prostate Cancer ... Health Encyclopedia Health Encyclopedia Back to main Health Information page Disease - Apert syndrome Syndactyly Definition: Apert syndrome is a genetic disease. It can be inherited or it may occur without a known family history. It is characterized by premature closure of the seams between the skull bones, which results in a peaked head and an unusual facial appearance. Alternative Names: Acrocephalosyndactyly Causes And Risk: Apert syndrome is transmitted as an autosomal dominant trait (which means that only one parent needs to have the condition for a child to potentially be affected). Some cases also appear spontaneously without a family history. The condition is caused by mutations in a gene called fibroblast growth factor receptor 2. This mutation causes some of the bony sutures of the skull close prematurely (a process called craniosynostosis) which can cause asymmetric growth and give the head a distorted shape. The face is distinctive looking and there may be full-length webbing or fusion between the 2nd, 3rd and 4th fingers, as well as the toes. In addition, as the child grows, the bones in the hands and feet become progressively fused, which reduces flexibility and function. There are several other syndromes which have a similar appearance and include craniosynostosis (premature suture fusion): Carpenter syndrome (kleeblattschadel, cloverleaf skull deformity)

88. Resource Library Find Information On Apert Syndrome At MerckSource Find information on apert syndrome at MerckSource. Learn more about apert syndrome,apert syndrome is a genetic disease. http://www.mercksource.com/pp/us/cns/cns_hl_adam.jspzQzpgzEzzSzppdocszSzuszSzcns

89. World Craniofacial Foundation apert s syndrome is a relatively uncommon craniofacial condition. Children withapert s syndrome may have unusual speech characteristics. http://www.worldcf.org/apert.cfm

About Us Treatable Conditions International ... Ways to Help The World Craniofacial Foundation is dedicated to helping children and familes who experience deformities of the head and/or face by providing support and access to life-changing procedures. Reconstruct a face; create a new life. Today, we have the knowledge and technology to make these children look and feel normal. It is now possible to acheive excellent outcomes in the treatment of even the most complex craniofacial deformities. For the task ahead, support and participation is needed from all of us in order to transform the lives of those who need help. World Craniofacial Foundation 7777 Forest Lane Ste C-621 P.O. Box 515838 Dallas, TX 75251-5838 fax 972-566-3850 www.worldcf.org Need Assistance? Support Groups Media Resources ... Links Apert's Syndrome Congenital Craniofacial Deformities Anatomy and Growth of the Skull Deformites of Skull Shape Non-synostic Plagiocephaly Isolated Craniosynostosis Syndromic Synostoses Apert's Syndrome Carpenter's Syndrome Crouzon's Syndrome Pfeiffer Syndrome ... Deformities of the Jaw Syndromal Facial Anomalies Hemifacial Microsomia Goldenhar Syndrome Treacher-Collins Syndrome Down's Syndrome ... Non-Syndromal Anomalies Apert's Syndrome Apert's syndrome is a relatively uncommon craniofacial condition. It occurs with a frequency of one in 160,000 live births. The condition may be inherited with a frequency of 50% in the off-spring of an affected adult, or may develop as a spontaneous mutation.

90. Apert's Syndrome, Vanderbilt Craniofacial Treatment Center, Nashville, Tennessee apert s syndrome also results from premature fusion of the skull and hypoplasticfacial The cranial and midfacial deformities of apert s syndrome can be http://surgery.vanderbilt.edu/surgery/plastic/cfa/apert.htm

Indications for Craniofacial Surgery Appointments Craniofacial Treatment Center Home Page Plastic Surgery ... Home Page Apert's Syndrome Apert's syndrome also results from premature fusion of the skull and hypoplastic facial development. Syndactyly, the fusion of the fingers and commonly known as webbing, is found with this syndrome. The cranial and midfacial deformities of Apert's syndrome can be addressed surgically to decrease the risk of optic difficulties or blindness secondary to orbital hypoplasia. Surgery also gives these children a more pleasing appearance and, thus, a greater acceptance among their peers. Additionally, surgery can be performed to separate the fingers. This should be done as early as possible to increase the fingers' finctional potential. Return to Indications for Craniofacial Surgery VUMC Home About VUMC ... Search URL: http://www.surgery.mc.vanderbilt.edu/surgery/plastic/cfa/apert.htm Section Web Support Last Modified: Friday, March 11, 2005

91. Apert's Syndrome (www.whonamedit.com) apert s syndrome A complex of craniofacial abnormalities caused by prematurecraniosynostosis, usually of the coronal suture, leading to turribrachycephaly http://www.whonamedit.com/synd.cfm/194.html

Home List categories Eponyms A-Z Biographies by country ... Contact Whonamedit.com does not give medical advice. This survey of medical eponyms and the persons behind them is meant as a general interest site only. No information found here must under any circumstances be used for medical purposes, diagnostically, therapeutically or otherwise. If you, or anybody close to you, is affected, or believe to be affected, by any condition mentioned here: see a doctor. A recommendation: Hypography is an open community about science and all things related Apert's syndrome Also known as: Apert's syndactyly Synonyms: Acrocephalosyndactylism, acrocephalosyndactyly type I, acrocephaly with syndactyly, acrocraniodysphalangia, acrodysplasia, syndactylic oxycephaly syndrome. Associated persons: Eugène Charles Apert Description: A complex of craniofacial abnormalities caused by premature craniosynostosis, usually of the coronal suture, leading to turribrachycephaly, associated with syndactyly and polydactyly. Cranial abnormalities are of the brachysphenocephalic type with high forehead, small nose, supraorbital horizontal groove, shallow orbits, antimongoloid palpebral fissures, hypoplastic maxilla, and narrow palate. Cleft palate may occur. Syndactyly is due to osseous fusion of the second and fourth fingers with a single nail and soft tissue fusion of the fourth or second to fifth, or of all toes, thus giving the hands and feet a mitten-like appearance. There may be also shortening of upper extremities, deformation of the pectoral girdle, and abnormalities of genitourinary, gastrointestinal, and cardiovascular systems. The syndrome is transmitted as an autosomal dominant trait.

92. Eugène Charles Apert (www.whonamedit.com) born July 27, 1868, Paris; died February 2, 1940, Paris? Associated withapert s syndrome,apertCrouzon syndrome,Cushing s syndrome I. http://www.whonamedit.com/doctor.cfm/205.html

Home List categories Eponyms A-Z Biographies by country ... Contact Whonamedit.com does not give medical advice. This survey of medical eponyms and the persons behind them is meant as a general interest site only. No information found here must under any circumstances be used for medical purposes, diagnostically, therapeutically or otherwise. If you, or anybody close to you, is affected, or believe to be affected, by any condition mentioned here: see a doctor. A recommendation: Hypography is an open community about science and all things related Eugène Charles Apert French paediatrician, born July 27, 1868, Paris; died February 2, 1940, Paris? Associated eponyms: Apert's syndrome A complex of craniofacial abnormalities caused by premature craniosynostosis, usually of the coronal suture, leading to turribrachycephaly, associated with syndactyly and polydactyly. Apert-Crouzon syndrome A rare form of Carpenter's syndrome (acrocephalopoysyndactyly) combining features of the Apert syndrome with those of the Crouzon syndrome. Cushing's syndrome I Glucocorticoid excess syndrome in which the hypersecretion of glucocorticoids is secondary to hypersecretion of adrenocorticotrophic hormone from the pituitary.

93. Apert's Syndrome apert s syndrome. DESCRIPTION Autosomal dominant mutation characterized byacrocephalosyndactyly and mental retardation. http://www.5mcc.com/Assets/SUMMARY/TP0076.html

Apert's syndrome DESCRIPTION: Autosomal dominant mutation characterized by acrocephalosyndactyly and mental retardation. Usual course - chronic; progressive. CAUSES: unknown probable early bridging of mesenchymal blastema probable early bridging of bone hypoplasia Synonyms: acrocephalosyndactyly ICD-9-CM: 755.55 acrocephalosyndactyly Author(s): Mark R. Dambro, MD

94. Uhrad.com Pediatric Imaging Teaching Files Diagnosis apert s syndrome with mitten hand deformity. Discussion apert ssyndrome also known as acrocephalosyndactyly of the apert type occurs in http://www.uhrad.com/pedsarc/peds086.htm

uhrad.com - Pediatric Imaging Teaching Files Case Eighty Six - Apert's Syndrome Click on Images for Enlarged View Clinical History: One-month-old with hand and foot malformation with question of syndrome. Findings: Two views of the left hand reveal multiple abnormalities including syndactyly involving fusion of the third and fourth middle phalanges and irregular fusion of distal phalanges. There is soft tissue fusion as well as abnormal bay appearance of the first digit (thumb). Diagnosis: Apert's syndrome with "mitten hand" deformity. Discussion: Apert's Syndrome also known as acrocephalosyndactyly of the Apert type occurs in approximately 15.5 cases per one million births. Most are sporadic; however, autosomal dominant and Mosaic forms are present. The most prominent finding is early closure of cranial sutures (cranial synostosis), more commonly affecting coronal sutures. Additional skeletal findings include limb deformity with syndactyly of the digits in upper and lower extremities, known as "mitten hand" and "sock foot" deformities. Craniofacial and CNS findings are also associated with the syndrome. References: Taybi and Lachman: Radiology of Syndromes.

95. Grand Rounds Archives apert s syndrome is characterized by irregular craniosynostosis, apert ssyndrome (a type of acrocephalosyndactyly) observations on a British series of http://www.bcm.edu/oto/grand/62493.html

Grand Rounds Archives The information contained within the Grand Rounds Archive is intended for use by doctors and other health care professionals. These documents were prepared by resident physicians for presentation and discussion at a conference held at The Baylor College of Medicine in Houston, Texas. No guarantees are made with respect to accuracy or timeliness of this material. This material should not be used as a basis for treatment decisions, and is not a substitute for professional consultation and/or peer-reviewed medical literature. CRANIOSYNOSTOSIS SYNDROMES J. Cary Moorhead, MD June 24, 1993 Craniosynostosis arises from the premature closure of cranial suture lines, which leads to maldevelopment of the cranial cavity and other craniofacial features. It is a feature of a multitude of medical conditions. These can be grossly divided into those that are associated with syndromes and those that are not. The syndromes associated with craniosynostosis can be further broken down by etiology into those resulting from a monogenic, or Mendelian, mode of inheritance, from specific chromosomal defects, from environmental teratogens, and from other factors which are as yet unknown. The syndromes covered in this review are inherited in a monogenic fashion, and represent some of the more common syndromes. Apert's syndrome is characterized by irregular craniosynostosis, midfacial hypoplasia, and symmetric syndactyly of the hands and feet. The incidence is quoted at 1 in 115,000 births, although this may be an underestimate. Cases are usually sporadic mutations, although an autosomal dominant mode of transmission from affected parents has been shown.

96. Health Diary >> Bones And Joints >> Apert's Syndrome Health Diary with Siobhán Cleary looks at medical issues from the patient s pointof view. Experience the personal stories that will help you take better http://www.healthdiary.com/story.php?id=11

97. Log In Problems A 7year-old boy with a family history of strange hands presented to an orthopedicclinic with a complaintof foot pain. Diagnosis - apert s syndrome. http://www.medscape.com/viewarticle/489276

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98. AR Online » X-Ray/DR/CR » Case Reports » Apert’s Syndrome Applied Radiology A journal for radiology professionals with reports on proceduresutilizing MRI, CT, Ultrasound, X-Ray, Mammography, Nuclear Medicine, http://www.appliedradiology.com/case/case.asp?Id=560&IssueID=131&CatID=46&SubCat

99. Indian Journal Of Dermatology, Venereology And Leprology: Apert's Syndrome.(Case Access the article, apert s syndrome.(Case Study) from Indian Journal ofDermatology, Venereology and Leprology, a publication in the field of Health http://www.findarticles.com/p/articles/mi_hb3310/is_200403/ai_n8004049

@import url(/css/us/style1.css); @import url(/css/us/searchResult1.css); @import url(/css/us/articles.css); @import url(/css/us/artHome1.css); Advanced Search Home Help IN free articles only all articles this publication Automotive Sports 10,000,000 articles - not found on any other search engine. FindArticles Indian Journal of Dermatology, Venereology and Leprology March 2004 10,000,000 articles Not found on any other search engine. Featured Titles for AAACN Viewpoint ABNF Journal, The AIDS Treatment News AMAA Journal ... View all titles in this topic Hot New Articles by Topic Automotive Sports Top Articles Ever by Topic Automotive Sports Save a personal copy of any page on the Web and quickly find it again with Furl.net. It's free. Get started now. Apert's syndrome.(Case Study) Indian Journal of Dermatology, Venereology and Leprology March, 2004 by Mukherjee, Debjani Content provided in partnership with Read the full article with a Free Trial of HighBeam Research Abstract Apert's syndrome (acrocephalosyndactyly) is a rare congenital disorder characterized by craniosynostosis, mid-facial malformations and symmetrical syndactyly. We present a 2-month-old girl having features of Apert's syndrome, with cerebral cortical atrophy and bifurcation of the right first metatarsal base, a hitherto undescribed finding. KEY WORDS: Apert's Syndrome, Cerebral cortical atrophy, Bone changes

100. Apert's Syndrome Neonatology Neurology Skull Craniosynostosis apert. http://www.fpnotebook.com/NIC72.htm

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