Human Genome Mapping Project A list of features for ablepharonmacrostomia syndrome. http://www.hgmp.mrc.ac.uk/dhmhd-bin/hum-look-up?1084
Ablepharon Macrostomia Syndrome Ablepharon Macrostomia Syndrome. This page is dedicated to Ablepharon Macrostomia Syndrome or AMS. http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126
Redirect A clinical synopsis for ablepharonmacrostomia syndrome. http://www3.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?200110
Ablepharon Macrostomia Syndrome ablepharonmacrostomia syndrome (AMS) is an extremely rare inherited disorder characterized by various physical abnormalities affecting the head and http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126
AMS Ablepharon-Macrostomia Syndrome - Special Needs Children Is your child affected by AMS or know someone who is and would like to know more about it? Read more details on ablepharonmacrostomia syndrome here . http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126
Ablepharon Macrostomia Syndrome Ablepharon Macrostomia Syndrome (AMS) is an extremely rare inherited disorder characterized by various http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126
Ablepharon-Macrostomia Syndrome - Special Needs Children Is your child affected by AMS or know someone who is and would like to know moreabout it? Read more details on ablepharonmacrostomia syndrome here. http://www.bellaonline.com/articles/art3136.asp
Extractions: BellaOnline's Special Needs Children Editor Ablepharon-Macrostomia Syndrome If your child is diagnosed with Ablepharon Macrostomia Syndrome, you may have many questions about the disorder and what it might mean for your son or daughter. The resources below may be of help in finding resources and support for the best quality of life and richness of experience for your sweet little child, as well as other families who share similar concerns and goals.
Excite Italia - Ablepharon-Macrostomia Syndrome Genetic Ablepharon Macrostomia Syndrome A personal site with information and links about this disease. http//www.angelfire.com/ga2/AMS http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126
Ablepharon Macrostomia Syndrome ablepharonmacrostomia syndrome (AMS) is an extremely rare inherited disordercharacterized by various physical abnormalities affecting the head and facial http://www.bchealthguide.org/kbase/nord/nord1093.htm
Extractions: It is possible that the main title of the report Ablepharon Macrostomia Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. Ablepharon-Macrostomia Syndrome (AMS) is an extremely rare inherited disorder characterized by various physical abnormalities affecting the head and facial (craniofacial) area, the skin, the fingers, and the genitals. In addition, affected individuals may have malformations of the nipples and the abdominal wall. Infants and children with AMS may also experience delays in language development and, in some cases, mental retardation. Children's Craniofacial Association
Ablepharon Macrostomia Syndrome - Quest Diagnostics Patient Health ablepharonmacrostomia syndrome (AMS) is an extremely rare inherited disorder characterized by various physical abnormalities affecting the head and http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126
Extractions: Home Latest News ... Contact Us By Usage Ablepharon-macrostom... Angelman angelman syndrome ... therapy vferraz vferraz's bookmarks matching tag "Ablepharon-macrostomia syndrome" Congenital shortening of the anterior lamella of all eyelids: the so-called ablepharon macrostomia syndrome. info A A Cruz et al. Ophthal Plast Reconstr Surg Dec 1995 PMID: 8746822 Posted by vferraz (who is an author) to Ablepharon-macrostomia syndrome on Thu Mar 03 2005 at 01:27 UTC Familial occurrence of ablepharon macrostomia syndrome: eyelid structure and surgical considerations. info A A Cruz et al. Arch Ophthalmol Mar 2000 PMID: 10721975 Posted by vferraz (who is an author) to Ablepharon-macrostomia syndrome on Thu Mar 03 2005 at 01:26 UTC Ablepharon-macrostomia syndrome: first report of familial occurrence. info V E Ferraz et al. Am J Med Genet 01 Oct 2000 PMID: 11038439 Posted by vferraz (who is an author) to Ablepharon-macrostomia syndrome on Thu Mar 03 2005 at 01:25 UTC Add a bookmark Create a new group Create a tag note Rename a tag ... Edit my registration
NORD Ablepharon Macrostomia Syndrome NORD Ablepharon Macrostomia Syndrome. A look at the alternate name, a general discussion and further resources. http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126
Ablepharon Macrostomia Syndrome Price Et Al. 75 (5) 317 Ablepharon macrostomia syndrome NJ Price, RE Pugh, PA Farndon and HE Willshaw Department of Paediatri, Ophthalmology, Children's Hospital http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126
200110 ABLEPHARON-MACROSTOMIA SYNDROME 200130 ABSENT EYEBROWS 200110 ablepharonmacrostomia syndrome 200130 ABSENT EYEBROWS AND EYELASHESWITH MENTAL RETARDATION 200170 ACANTHOSIS NIGRICANS WITH MUSCLE CRAMPS AND http://linkage.rockefeller.edu/wli/omim/rec_unknown.txt
Extractions: 200110 : ABLEPHARON-MACROSTOMIA SYNDROME 200130 : ABSENT EYEBROWS AND EYELASHES WITH MENTAL RETARDATION 200170 : ACANTHOSIS NIGRICANS WITH MUSCLE CRAMPS AND ACRAL ENLARGEMENT 200300 : ACETOPHENETIDIN SENSITIVITY 200440 : ACHALASIA-ALACRIMIA SYNDROME 200450 : ACHALASIA-MICROCEPHALY SYNDROME 200710 : ACHONDROGENESIS, TYPE III 200720 : ACHONDROGENESIS, TYPE IV 200900 : ACHONDROPLASIA, SO-CALLED, AND SWISS-TYPE AGAMMAGLOBULINEMIA 200930 : ACHROMATOPSIA, INCOMPLETE, WITH PROTAN LUMINOSITY FUNCTION 200970 : ACKERMAN SYNDROME 200980 : ACRAL-RENAL-MANDIBULAR SYNDROME 200995 : ACROCEPHALOPOLYDACTYLOUS DYSPLASIA 201020 : ACROCEPHALOPOLYSYNDACTYLY TYPE IV 201050 : ACROCRANIOFACIAL DYSOSTOSIS 201170 : ACROFACIAL DYSOSTOSIS SYNDROME OF RODRIGUEZ 201180 : ACROFRONTOFACIONASAL DYSOSTOSIS SYNDROME 201181 : ACROFRONTOFACIONASAL DYSOSTOSIS, SEVERE 201200 : ACROGERIA 201310 : ACRORENAL SYNDROME, AUTOSOMAL RECESSIVE 201750 : ADRENAL HYPERPLASIA, CONGENITAL, DUE TO DEFECTS IN SEVERAL STEROID-BIOSYNTHETIC ENZYMES 202150 : ADRENAL HYPOPLASIA, CONGENITAL, WITH ABSENT PITUITARY LUTEINIZING HORMONE 202155 : ADRENAL HYPOPLASIA, CYTOMEGALIC TYPE 202355 : ADRENOCORTICAL UNRESPONSIVENESS TO ACTH WITH POSTRECEPTOR DEFECT 202550 : AGANGLIONOSIS, TOTAL INTESTINAL 202600 : AGENESIS OF CEREBRAL WHITE MATTER 202650 : AGNATHIA-HOLOPROSENCEPHALY 202660 : AGONADISM WITH MULTIPLE INTERNAL MALFORMATIONS 202900 : ALANINURIA WITH MICROCEPHALY, DWARFISM, ENAMEL HYPOPLASIA, AND DIABETES MELLITUS 203000 : FRONTONASAL DYSPLASIA WITH ALAR CLEFTS 203280 : ALBINISM, MINIMAL PIGMENT TYPE 203285 : ALBINISM WITH IMMUNE AND HEMATOLOGIC DEFECTS 203330 : ALBRIGHT HEREDITARY OSTEODYSTROPHY; AHO 203340 : ALBINISM-MICROCEPHALY-DIGITAL ANOMALIES SYNDROME 203400 : ALDOSTERONE DEFICIENCY DUE TO DEFECT IN 18-HYDROXYLASE 203550 : ALOPECIA-CONTRACTURES-DWARFISM MENTAL RETARDATION SYNDROME 203600 : ALOPECIA-EPILEPSY-OLIGOPHRENIA SYNDROME OF MOYNAHAN 203760 : ALPHA-2-DEFICIENT COLLAGEN DISEASE 204110 : AMAUROSIS CONGENITA, CONE-ROD TYPE, WITH CONGENITAL HYPERTRICHOSIS 204650 : AMELOGENESIS IMPERFECTA, LOCAL HYPOPLASTIC TYPE, RECESSIVE 204690 : AMELOGENESIS IMPERFECTA AND NEPHROCALCINOSIS 204730 : AMINOACIDURIA WITH MENTAL DEFICIENCY, DWARFISM, MUSCULAR DYSTROPHY, OSTEOPOROSIS, AND ACIDOSIS 204750 : AMINOADIPICACIDURIA 204850 : AMYLOIDOSIS OF GINGIVA AND CONJUNCTIVA, WITH MENTAL RETARDATION 204900 : AMYLOIDOSIS, CUTANEOUS BULLOUS 205250 : AMYOTROPHIC LATERAL SCLEROSIS WITH POLYGLUCOSAN BODIES 205600 : ANEMIA AND TRIPHALANGEAL THUMBS 205700 : ANEMIA, AUTOIMMUNE HEMOLYTIC 205950 : ANEMIA, CONGENITAL SIDEROBLASTIC, B6-NONRESPONSIVE 206000 : ANEMIA, FAMILIAL PYRIDOXINE-RESPONSIVE 206100 : ANEMIA, HYPOCHROMIC MICROCYTIC 206200 : ANEMIA, MICROCYTIC 206300 : ANEMIA, NONSPHEROCYTIC HEMOLYTIC, ASSOCIATED WITH ABNORMALITY OF RED CELL MEMBRANE 206400 : ANEMIA, NONSPHEROCYTIC HEMOLYTIC, POSSIBLY DUE TO DEFECT IN PORPHYRIN METABOLISM 206550 : ANGIOLIPOMATOSIS, FAMILIAL 206600 : ANHIDROSIS 206750 : ANIRIDIA, PARTIAL, WITH UNILATERAL RENAL AGENESIS AND PSYCHOMOTOR RETARDATION 207000 : ANOSMIA FOR ISOBUTYRIC ACID 207300 : ANTITHROMBIN, FAMILIAL HEMORRHAGIC DIATHESIS DUE TO 207500 : ANUS, IMPERFORATE 207600 : TAKAYASU ARTERITIS 207620 : APHALANGY WITH HEMIVERTEBRAE 207700 : APLASIA CUTIS CONGENITA; ACC 207720 : APNEA, CENTRAL SLEEP 207731 : APLASIA CUTIS CONGENITA WITH INTESTINAL LYMPHANGIECTASIA 207740 : APLASIA OF EXTENSOR MUSCLES OF FINGERS, UNILATERAL, WITH GENERALIZED POLYNEUROPATHY 207765 : APPARENT MINERALOCORTICOID EXCESS, TYPE 2; AME2 207770 : APROSENCEPHALY SYNDROME 207780 : AREDYLD 207790 : ARACHNOID CYSTS, INTRACRANIAL 207950 : ARNOLD-CHIARI MALFORMATION 208050 : ARTERIAL TORTUOSITY 208080 : ARTHROGRYPOSIS, DISTAL, WITH HYPOPITUITARISM, MENTAL RETARDATION, AND FACIAL ANOMALIES 208081 : ARTHROGRYPOSIS, DISTAL, WITH MENTAL RETARDATION AND CHARACTERISTIC FACIES 208085 : ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 208155 : ARTHROGRYPOSIS MULTIPLEX CONGENITA WITH WHISTLING FACE 208158 : ARTHROGRYPOSIS WITH HYPERKERATOSIS 208300 : ASCITES, CHYLOUS 208530 : ASPLENIA WITH CARDIOVASCULAR ANOMALIES 208540 : ASPLENIA WITH CYSTIC LIVER, KIDNEY AND PANCREAS 208550 : ASTHMA, NASAL POLYPS, ASPIRIN INTOLERANCE 208600 : ASTHMA, SHORT STATURE, AND ELEVATED IgA 208700 : ATAXIA WITH MYOCLONIC EPILEPSY AND PRESENILE DEMENTIA 208850 : ATAXIA-DEAFNESS-RETARDATION SYNDROME 208870 : ATAXIA-MICROCEPHALY-CATARACT SYNDROME 208910 : ATAXIA-TELANGIECTASIA WITH GENERALIZED SKIN PIGMENTATION AND EARLY DEATH 208920 : ATAXIA-TELANGIECTASIA-LIKE SYNDROME 209000 : ATAXIC DIPLEGIA WITH DEFECTIVE CELLULAR IMMUNITY 209010 : ATHEROSCLEROSIS, PREMATURE, WITH DEAFNESS, NEPHROPATHY, DIABETES MELLITUS, PHOTOMYOCLONUS, AND DEGENERATIVE NEUROLOGIC DISEASE 209050 : ATHROMBIA, ESSENTIAL 209300 : ATRANSFERRINEMIA 209600 : ATRIOVENTRICULAR DISSOCIATION 209700 : ATROPHODERMIA VERMICULATA 209770 : AURAL ATRESIA, MULTIPLE CONGENITAL ANOMALIES, AND MENTAL RETARDATION 209800 : AUSTRALIA ANTIGEN 209850 : AUTISTIC DISORDER 209885 : BARBER-SAY SYNDROME 209970 : BEEMER LETHAL MALFORMATION SYNDROME 210000 : BEHR SYNDROME 210050 : BERRY ANEURYSM, CIRRHOSIS, PULMONARY EMPHYSEMA, AND CEREBRAL CALCIFICATION 210210 : BETA-METHYLCROTONYLGLYCINURIA II 210300 : BIEMOND CONGENITAL AND FAMILIAL ANALGESIA 210350 : BIEMOND SYNDROME II 210400 : BIFID NOSE 210450 : BILE ACID, SYNTHETIC DEFECT OF 210500 : BILIARY ATRESIA, EXTRAHEPATIC; EHBA 210550 : BILIARY MALFORMATION WITH RENAL TUBULAR INSUFFICIENCY 210700 : BIRD-HEADED DWARFISM, MONTREAL TYPE 210740 : BIRD-HEADED DWARFISM WITH PROGRESSIVE ATAXIA, INSULIN-RESISTANT DIABETES, GOITER, AND PRIMARY GONADAL INSUFFICIENCY 210745 : BLEPHAROPHIMOSIS WITH PTOSIS, SYNDACTYLY, AND SHORT STATURE 210750 : BLOND HAIR 211000 : BLUE DIAPER SYNDROME 211120 : BONE DYSPLASIA, LETHAL, HOLMGREN TYPE 211170 : BORRONE DERMATOCARDIOSKELETAL SYNDROME 211200 : BOWEN SYNDROME OF MULTIPLE MALFORMATIONS 211355 : BOWING OF LONG BONES, ASYMMETRIC AND SYMMETRIC 211369 : BRACHYDACTYLY, TYPE A2, WITH MICROCEPHALY 211370 : BRACHYMETAPODY-ANODONTIA-HYPOTRICHOSIS-ALBINOIDISM 211380 : BRACHIOSKELETOGENITAL SYNDROME 211400 : BRONCHIECTASIS 211450 : BRONCHOMALACIA 211480 : BUERGER DISEASE 211770 : CAHMR SYNDROME 211800 : CALCIFICATION OF JOINTS AND ARTERIES 211910 : CAMPTODACTYLY SYNDROME, GUADALAJARA TYPE I; GCS1 211920 : CAMPTODACTYLY SYNDROME, GUADALAJARA TYPE II 211930 : CAMPTODACTYLY WITH FIBROUS TISSUE HYPERPLASIA AND SKELETAL DYSPLASIA 211965 : CAMPTODACTYLY-ICHTHYOSIS SYNDROME 211980 : CANCER OF LUNG 211990 : CAMPTOMELIC SYNDROME, LONG-LIMB TYPE 212060 : CARBIMAZOLE SENSITIVITY 212067 : CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME, TYPE III 212080 : CARDIAC LIPIDOSIS, FAMILIAL 212090 : CARDIAC SEPTAL DEFECTS WITH COARCTATION OF THE AORTA 212093 : CARDIAC VALVULAR DEFECT, DEVELOPMENTAL 212100 : CARDIOAUDITORY SYNDROME OF SANCHEZ CASCOS 212110 : CARDIOMYOPATHY, CONGESTIVE 212112 : CARDIOMYOPATHY, CONGESTIVE, WITH HYPERGONADOTROPIC HYPOGONADISM 212120 : CARDIOGENITAL SYNDROME 212135 : CARDIOSKELETAL SYNDROME, KUWAITI TYPE 212360 : CATARACT-ALOPECIA-SCLERODACTYLY SYNDROME; CASS 212540 : CATARACT, MICROCEPHALY, FAILURE TO THRIVE, KYPHOSCOLIOSIS SYNDROME 212550 : CATARACT, MICROPHTHALMIA, AND NYSTAGMUS 212600 : CATARACT, NUCLEAR 212700 : CATARACT, NUCLEAR TOTAL 212710 : CATARACT-ATAXIA-DEAFNESS-RETARDATION SYNDROME 212720 : CATARACT-MENTAL RETARDATION-HYPOGONADISM 212750 : CELIAC DISEASE; CD 212790 : CENTROMERE DIVISION, PREMATURE; PCD 212800 : CEPHALIN LIPIDOSIS 212835 : CEREBELLAR ATAXIA AND ECTODERMAL DYSPLASIA 212850 : CEREBELLAR ATAXIA AND NEUROSENSORY DEAFNESS 212890 : CEREBELLAR ATAXIA, BENIGN, WITH THERMOANALGESIA 212900 : CEREBELLAR ATAXIA, INFANTILE, WITH PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA 212905 : CEREBELLAR ATAXIA WITH NEURONAL MIGRATION DEFECT 213002 : CEREBELLAR HYPOPLASIA WITH ENDOSTEAL SCLEROSIS 213010 : CEREBELLAR VERMIS APLASIA WITH ASSOCIATED FEATURES SUGGESTING SMITH-LEMLI-OPITZ SYNDROME AND MECKEL SYNDROME 213400 : CEREBELLOPARENCHYMAL DISORDER V; CPD V 213500 : CEREBRAL ANGIOPATHY, DYSPHORIC 213820 : CEREBRAL MALFORMATION, SEIZURES, HYPERTRICHOSIS, AND OVERLAPPING FINGERS 213900 : CEREBRAL SCLEROSIS SIMILAR TO PELIZAEUS-MERZBACHER DISEASE 213950 : CEREBROCORTICAL DEGENERATION OF INFANCY 214150 : CEREBROOCULOFACIOSKELETAL SYNDROME 214200 : CEROID STORAGE DISEASE 214290 : CERVICAL VERTEBRAE, AGENESIS OF 214300 : CERVICAL VERTEBRAL FUSION, AUTOSOMAL RECESSIVE 214350 : CHANDS 214380 : CHARCOT-MARIE-TOOTH DISEASE, PROGRESSIVE ATAXIA, AND TREMOR 214800 : CHOANAL ATRESIA, POSTERIOR; PCA 214980 : CHOLESTASIS WITH GALLSTONE, ATAXIA, AND VISUAL DISTURBANCE 215030 : CHOLESTEROL PNEUMONIA 215050 : CHONDRODYSPLASIA CALCIFICANS METAPHYSEALIS 215105 : CHONDRODYSPLASIA PUNCTATA SYNDROME 215140 : CHONDRODYSTROPHY, HYDROPIC AND PRENATALLY LETHAL TYPE 215250 : CHONDROITIN-6-SULFATURIA, DEFECTIVE CELLULAR IMMUNITY, NEPHROTIC SYNDROME 215450 : CHOREA, FAMILIAL BENIGN 215480 : CHOROID PLEXUS CALCIFICATION AND MENTAL RETARDATION 215510 : CHROMOSOMAL INSTABILITY WITH TISSUE-SPECIFIC RADIOSENSITIVITY 215518 : CILIARY DISCOORDINATION DUE TO RANDOM CILIARY ORIENTATION 215550 : CIRCUMVALLATE PLACENTA SYNDROME 215600 : CIRRHOSIS, FAMILIAL 215720 : CITRULLINE TRANSPORT DEFECT 215800 : CLEFT LARYNX, POSTERIOR 215850 : CLEFT-LIMB-HEART MALFORMATION SYNDROME 216100 : CLEFT LIP/PALATE WITH ABNORMAL THUMBS AND MICROCEPHALY 216300 : CLEFT PALATE, DEAFNESS, AND OLIGODONTIA 216330 : CLEIDOCRANIAL DYSPLASIA, RECESSIVE FORM 216360 : COACH SYNDROME 216800 : COLOBOMA OF MACULA AND SKELETAL ANOMALIES 216820 : COLOBOMA, OCULAR 216920 : COMBINED INFLAMMATORY AND IMMUNOLOGIC DEFECT 217080 : CONE-ROD DYSTROPHY AND AMELOGENESIS IMPERFECTA 217085 : CONGENITAL HEART DEFECTS, HAMARTOMAS OF TONGUE, AND POLYSYNDACTYLY 217095 : CONOTRUNCAL HEART MALFORMATIONS; CTHM 217100 : CONSTRICTING BANDS, CONGENITAL 217150 : CONTRACTURES, CONGENITAL, TORTICOLLIS, AND MALIGNANT HYPERTHERMIA 217200 : CONVULSIVE DISORDER, FAMILIAL, WITH PRENATAL OR EARLY ONSET 217520 : CORNEAL DEGENERATION, BAND-SHAPED SPHEROID 217600 : CORNEAL DYSTROPHY, CENTRAL TYPE 217980 : CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND ROBIN SEQUENCE 217990 : CORPUS CALLOSUM, AGENESIS OF; ACC 218010 : CORTICAL BLINDNESS, RETARDATION AND POSTAXIAL POLYDACTYLY 218050 : CRAMPS, FAMILIAL ADOLESCENT 218090 : CRANE-HEISE SYNDROME 218200 : CRANIAL NERVES, RECURRENT PARESIS OF 218300 : CRANIODIAPHYSEAL DYSPLASIA; CDD 218340 : CRANIOFACIAL DYSMORPHISM WITH OCULAR COLOBOMA, ABSENT CORPUS CALLOSUM, AND AORTIC DILATATION 218350 : CRANIOFACIAL DYSSYNOSTOSIS WITH SHORT STATURE 218450 : CRANIOSTENOSIS, SAGITTAL, WITH CONGENITAL HEART DISEASE, MENTAL DEFICIENCY, AND MANDIBULAR ANKYLOSIS 218455 : CRANIOSTENOSIS-MICROCEPHALY WITH CHROMOSOMAL BREAKAGE AND OTHER ABNORMALITIES 218500 : CRANIOSYNOSTOSIS 218530 : CRANIOSYNOSTOSIS WITH ANOMALIES OF THE CRANIAL BASE AND DIGITS 218550 : CRANIOSYNOSTOSIS WITH FIBULAR APLASIA 218600 : CRANIOSYNOSTOSIS WITH RADIAL DEFECTS 218649 : CRANIOSYNOSTOSIS-MENTAL RETARDATION SYNDROME OF LIN AND GETTIG 218650 : CRANIOSYNOSTOSIS-MENTAL RETARDATION-CLEFTING SYNDROME 218670 : CRANIOTELENCEPHALIC DYSPLASIA 219050 : CRYPTORCHIDISM, UNILATERAL OR BILATERAL 219070 : CURVED NAIL OF FOURTH TOE 219080 : CUSHING DISEASE, ADRENAL 219090 : CUSHING DISEASE, PITUITARY 219095 : CUTANEOUS PHOTOSENSITIVITY AND COLITIS, LETHAL 219250 : CUTIS MARMORATA TELANGIECTATICA CONGENITA; CMTC 219300 : CUTIS VERTICIS GYRATA AND MENTAL DEFICIENCY; CVG/MR 219400 : CYANOSIS AND HEPATIC DISEASE 219550 : CYSTEINE PEPTIDURIA 219600 : CYSTIC DISEASE OF LUNG 219721 : CYSTIC FIBROSIS WITH HELICOBACTER PYLORI GASTRITIS, MEGALOBLASTIC ANEMIA, AND SUBNORMAL MENTALITY 219730 : CYSTIC KIDNEY DISEASE WITH VENTRICULOMEGALY 220200 : DANDY-WALKER SYNDROME; DWS 220219 : DANDY-WALKER MALFORMATION WITH MENTAL RETARDATION, MACROCEPHALY, MYOPIA, AND BRACHYTELEPHALANGY 220220 : DANDY-WALKER MALFORMATION WITH POSTAXIAL POLYDACTYLY 220300 : DEAFNESS, CONGENITAL, AND FAMILIAL MYOCLONIC EPILEPSY 220600 : DEAFNESS, CONGENITAL, AND SPLIT HANDS AND FEET 220900 : DEAFNESS, CONGENITAL, WITH TOTAL ALBINISM 221000 : DEAFNESS, CONGENITAL, SEMILETHAL 221200 : DEAFNESS, COCHLEAR, WITH MYOPIA AND INTELLECTUAL IMPAIRMENT 221320 : DEAFNESS, CONDUCTIVE, WITH PTOSIS AND SKELETAL ANOMALIES 221400 : DEAFNESS, NERVE TYPE, WITH MESENTERIC DIVERTICULA OF SMALL BOWEL AND PROGRESSIVE SENSORY NEUROPATHY 221500 : DEAFNESS, NEURAL, CONGENITAL MODERATE 221600 : DEAFNESS, NEURAL, EARLY ONSET 221700 : DEAFNESS, NEURAL, WITH ATYPICAL ATOPIC DERMATITIS 221740 : DEAFNESS-OLIGODONTIA SYNDROME 221745 : DEAFNESS, SENSORINEURAL, AUTOSOMAL-MITOCHONDRIAL TYPE 221750 : DEAFNESS, SENSORINEURAL, WITH PITUITARY DWARFISM 221760 : DERMATOGLYPHICSPALMAR TRIRADIUS d, ABSENCE OF 221780 : DERMATOGLYPHICSHYPOTHENAR RADIAL ARCH 221790 : DERMATOLEUKODYSTROPHY 221810 : DERMATOOSTEOLYSIS, KIRGHIZIAN TYPE 221820 : GLIOSIS, FAMILIAL PROGRESSIVE SUBCORTICAL 221950 : DEXTROCARDIA WITH UNUSUAL FACIES AND MICROPHTHALMIA 221995 : DIABETES INSIPIDUS, NEPHROGENIC, WITH MENTAL RETARDATION AND INTRACEREBRAL CALCIFICATION 222350 : DIAMINOPENTANURIA 222400 : DIAPHRAGM, UNILATERAL AGENESIS OF 222448 : DIAPHRAGMATIC HERNIA, EXOMPHALOS, ABSENT CORPUS CALLOSUM, HYPERTELORISM, MYOPIA, AND SENSORINEURAL DEAFNESS 222470 : DIARRHEA, FATAL INFANTILE, WITH ABNORMAL HAIR 222500 : DIASTEMATOMYELIA 222730 : DICARBOXYLICAMINOACIDURIA 222760 : DIGITORENOCEREBRAL SYNDROME 223200 : DISORGANIZATION, MOUSE, HOMOLOG OF 223300 : DISSEMINATED SCLEROSIS WITH NARCOLEPSY 223320 : DIVERTICULOSIS, SMALL-INTESTINAL 223330 : DIVERTICULOSIS OF BOWEL, HERNIA, AND RETINAL DETACHMENT 223340 : DKPHOCOMELIA SYNDROME 223350 : DOHLE BODIES AND LEUKEMIA 223380 : DOPAMINE BETA-HYDROXYLASE, PLASMA, THERMOLABILITY 223400 : DUODENAL ATRESIA 223500 : DWARFISM, LOW-BIRTH-WEIGHT TYPE, WITH UNRESPONSIVENESS TO GROWTH HORMONE 223540 : DWARFISM, MENTAL RETARDATION, AND EYE ABNORMALITY 223550 : DWARFISM, PROPORTIONATE, WITH HIP DISLOCATION 223600 : DWARFISM, LEVI TYPE 223610 : DWARFISM, SHORT-LIMB, WITH ABSENT FIBULAS AND VERY SHORT DIGITS 224000 : DYSAUTONOMIA-LIKE DISORDER 224200 : DYSGENESIS MESODERMALIS CORNEAE ET SCLERAE 224230 : DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 224250 : DYSMYELINATION WITH JAUNDICE 224400 : DYSSEGMENTAL DWARFISM 224410 : DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE 224550 : DYSTONIA WITH RINGBINDEN 224570 : DYSTONIA, FAMILIAL, WITH VISUAL FAILURE AND STRIATAL LUCENCIES 224600 : DYSTONIA, PERIODIC KINESIGENIC 224700 : EBSTEIN ANOMALY 224800 : ECTODERMAL DYSPLASIA AND NEUROSENSORY DEAFNESS 225040 : ECTODERMAL DYSPLASIA, HYPOHIDROTIC, WITH HYPOTHYROIDISM AND AGENESIS OF THE CORPUS CALLOSUM 225050 : ECTODERMAL DYSPLASIA, HYPOHIDROTIC, WITH HYPOTHYROIDISM AND CILIARY DYSKINESIA 225100 : ECTOPIA LENTIS 225290 : ECTRODACTYLY-POLYDACTYLY 225300 : ECTRODACTYLY 225310 : EHLERS-DANLOS SYNDROME WITH PLATELET DYSFUNCTION FROM FIBRONECTIN ABNORMALITY 225320 : EHLERS-DANLOS SYNDROME, AUTOSOMAL RECESSIVE, TYPE UNSPECIFIED 225350 : EHLERS-DANLOS SYNDROME, TYPE IV, AUTOSOMAL RECESSIVE; EDS4 225360 : EHLERS-DANLOS SYNDROME, TYPE IV-D 225450 : ELLIPTOCYTOSIS, ATYPICAL 225700 : ENCEPHALOMALACIA, MULTILOCULAR 225740 : ENCEPHALOPATHY, AXONAL, WITH NECROTIZING MYOPATHY, CARDIOMYOPATHY, AND CATARACTS 225753 : ENCEPHALOPATHY, FATAL INFANTILE, WITH OLIVOPONTOCEREBELLAR HYPOPLASIA 225755 : ENCEPHALOPATHY WITH INTRACRANIAL CALCIFICATION, GROWTH HORMONE DEFICIENCY, MICROCEPHALY, AND RETINAL DEGENERATION 225795 : ENCHONDROMATOSIS, GENERALIZED 226000 : ENDOCARDIAL FIBROELASTOSIS; EFE 226100 : ENDOCARDIAL FIBROELASTOSIS AND COARCTATION OF ABDOMINAL AORTA 226110 : ENDOTHELIAL DYSTROPHY, CONGENITAL HEREDITARY, WITH NAIL HYPOPLASIA 226150 : ENTEROCOLITIS 226350 : EOSINOPHILIC FASCIITIS 226400 : EPIDERMODYSPLASIA VERRUCIFORMIS 226440 : EPIDERMOLYSIS BULLOSA, LATE-ONSET LOCALIZED JUNCTIONAL, WITH MENTAL RETARDATION 226735 : EPIDERMOLYSIS BULLOSA WITH DIAPHRAGMATIC HERNIA 226800 : EPILEPSY, PHOTOGENIC, WITH SPASTIC DIPLEGIA AND MENTAL RETARDATION 226810 : EPILEPSY WITH BILATERAL OCCIPITAL CALCIFICATIONS 226850 : EPILEPSY-TELANGIECTASIA 226950 : EPIPHYSEAL DYSPLASIA OF FEMORAL HEAD, MYOPIA, AND DEAFNESS 226985 : EPITHELIAL SQUAMOUS DYSPLASIA, KERATINIZING DESQUAMATIVE, OF URINARY TRACT 226990 : EPSTEIN-BARR VIRUS, SUSCEPTIBILITY TO CHRONIC INFECTION BY 227000 : ERYTHEMA OF ACRAL REGIONS 227010 : ERMINE PHENOTYPE 227050 : ERYTHROBLASTOPENIA, TRANSIENT 227100 : ERYTHRODERMA DESQUAMATIVA OF LEINER 227200 : EUNUCHOIDISM, FAMILIAL HYPOGONADOTROPHIC 227210 : EYEBROWS, DUPLICATION OF, WITH STRETCHABLE SKIN AND SYNDACTYLY 227250 : FACIAL ABNORMALITIES, KYPHOSCOLIOSIS, AND MENTAL RETARDATION 227255 : FACIAL DYSMORPHISM WITH MULTIPLE MALFORMATIONS 227270 : FACIOCARDIOMELIC DYSPLASIA, LETHAL 227280 : FACIOCARDIORENAL SYNDROME 227290 : FACIOOCULOACOUSTICORENAL SYNDROME 227310 : FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, WITH NORMAL PROTEIN C AND PROTEIN C INHIBITOR 227320 : FACIOTHORACOGENITAL SYNDROME 227700 : FANCONI RENOTUBULAR SYNDROME I 227800 : FANCONI RENOTUBULAR SYNDROME II 227850 : FANCONI-LIKE SYNDROME 228020 : FASCIAL DYSTROPHY, CONGENITAL 228200 : FEMUR-FIBULA-ULNA SYNDROME 228300 : FERTILE EUNUCH 228355 : FETAL IODINE DEFICIENCY DISORDER; FIDD 228400 : FEVER, FAMILIAL LIFELONG PERSISTENT 228550 : FIBROMATOSIS, CONGENITAL GENERALIZED; CGF 228560 : FIBROMATOSIS, GINGIVAL, WITH DISTINCTIVE FACIES 228800 : FIBROSCLEROSIS, MULTIFOCAL 228930 : FIBULAR APLASIA OR HYPOPLASIA, FEMORAL BOWING AND POLY-, SYN-, AND OLIGODACTYLY 228940 : FIBULOULNAR APLASIA OR HYPOPLASIA WITH RENAL ABNORMALITIES 228980 : FLECK RETINA, FAMILIAL BENIGN 228990 : FLECK RETINA OF KANDORI 229045 : FOCAL EPITHELIAL HYPERPLASIA, ORAL 229070 : FOLLICLE-STIMULATING HORMONE, ISOLATED DEFICIENCY OF 229120 : FOUNTAIN SYNDROME 229150 : FRAGILE X, SUPPRESSOR OF 229230 : FRASER-LIKE SYNDROME 229250 : FREESIA FLOWERS, INABILITY TO SMELL 229310 : FRIEDREICH ATAXIA AND CONGENITAL GLAUCOMA 229650 : FRUCTOSE UTILIZATION 229900 : FUCHS ATROPHIA GYRATA CHORIOIDEAE ET RETINAE 230300 : GALACTORRHEA 230430 : GALACTOSYLTRANSFERASE DEFICIENCY 230710 : GANGLIOSIDOSIS, GM2, JUVENILE, A(M)B VARIANT 230750 : GASTROSCHISIS 231060 : GENITOPALATOCARDIAC SYNDROME 231080 : GERMAN SYNDROME 231095 : GHOSAL HEMATODIAPHYSEAL DYSPLASIA; GHDD 231520 : GLOOMY FACE SYNDROME 231530 : GLUCAGON DEFICIENCY, HYPOGLYCEMIA DUE TO 231630 : GLUTAMATE MONOSODIUM SENSITIVITY 231690 : GLUTARYL-CoA OXIDASE DEFICIENCY 231970 : GLUTEAL MUSCLES, ABSENCE OF 232330 : GLYCOGEN STORAGE DISEASE IIb 232900 : GLYCOPROTEIN STORAGE DISEASE 233270 : GOMBO SYNDROME 233420 : GONADAL DYSGENESIS, XY TYPE 233430 : GONADAL DYSGENESIS, XY TYPE, WITH ASSOCIATED ANOMALIES 233450 : GOODPASTURE SYNDROME 233500 : GORLIN-CHAUDHRY-MOSS SYNDROME 233600 : GRANULOCYTOPENIA WITH IMMUNOGLOBULIN ABNORMALITY 233650 : GRANULOMATOUS DISEASE DUE TO COMBINED CELLULAR AND HUMORAL IMMUNE DEFECTS 233670 : GRANULOMATOUS DISEASE WITH DEFECT IN NEUTROPHIL CHEMOTAXIS 233800 : GROUPED PIGMENTATION OF THE MACULA 233805 : GROWTH FACTORS, COMBINED DEFECT OF 233810 : GROWTH RETARDATION, SMALL AND PUFFY HANDS AND FEET, AND ECZEMA 234030 : HAIR DEFECT WITH PHOTOSENSITIVITY AND MENTAL RETARDATION 234100 : HALLERMANN-STREIFF SYNDROME; HSS 234250 : HALL-RIGGS MENTAL RETARDATION SYNDROME 234280 : HALLUX VARUS AND PREAXIAL POLYSYNDACTYLY 234300 : HALO NEVI 234350 : HALOTHANE HEPATITIS 234580 : HEARING LOSS, SENSORINEURAL, WITH ENAMEL HYPOPLASIA AND NAIL DEFECTS 234700 : HEART BLOCK, CONGENITAL 234750 : HEART, MALFORMATION OF 234800 : HEMANGIOMATOSIS, CUTANEOUS, WITH ASSOCIATED FEATURES 234810 : HEMANGIOMATOSIS, FAMILIAL PULMONARY CAPILLARY 234820 : HEMANGIOPERICYTOMA, MALIGNANT 235000 : HEMIHYPERTROPHY 235255 : MULLERIAN DERIVATIVES, PERSISTENCE OF, WITH LYMPHANGIECTASIA AND POSTAXIAL POLYDACTYLY 235360 : HEMOLYTIC ANEMIA, CONGENITAL, WITH EMPHYSEMA AND CUTIS LAXA 235370 : HEMOLYTIC ANEMIA WITH THERMAL SENSITIVITY OF RED CELLS 235500 : HEMOSIDEROSIS, PULMONARY, WITH DEFICIENCY OF GAMMA-A GLOBULIN 235550 : HEPATIC VENOOCCLUSIVE DISEASE WITH IMMUNE DEFICIENCY 235555 : HEPATITIS, NEONATAL CHOLESTATIC, DUE TO DEFICIENCY OF DELTA(4)-3-OXOSTEROID 5-BETA-REDUCTASE 235600 : HERMAPHRODITISM, TRUE 235730 : HIRSCHSPRUNG DISEASE, MICROCEPHALY, AND IRIS COLOBOMA 235740 : HIRSCHSPRUNG DISEASE WITH POLYDACTYLY, RENAL AGENESIS, AND DEAFNESS 235750 : HIRSCHSPRUNG DISEASE WITH ULNAR POLYDACTYLY, POLYSYNDACTYLY OF BIG TOES, AND VENTRICULAR SEPTAL DEFECT 235760 : HIRSCHSPRUNG DISEASE WITH HYPOPLASTIC NAILS AND DYSMORPHIC FACIAL FEATURES 236000 : HODGKIN DISEASE 236110 : HOLZGREVE SYNDROME 236130 : HOMOCARNOSINOSIS 236300 : HOOFT DISEASE 236410 : HUMERORADIAL/MULTIPLE SYNOSTOSIS SYNDROME 236450 : HUTTERITE CEREBROOSTEONEPHRODYSPLASIA SYNDROME 236490 : HYALINOSIS, SYSTEMIC INFANTILE 236500 : HYDRANENCEPHALY WITH RENAL APLASIA-DYSPLASIA 236600 : HYDROCEPHALUS 236635 : HYDROCEPHALUS DUE TO CONGENITAL STENOSIS OF AQUEDUCT OF SYLVIUS 236640 : HYDROCEPHALUS WITH ASSOCIATED MALFORMATIONS 236660 : HYDROCEPHALUS, TALL STATURE, JOINT LAXITY, AND KYPHOSCOLIOSIS 236690 : HYDROCEPHALUS, NORMAL-PRESSURE 236750 : HYDROPS FETALIS, IDIOPATHIC 237100 : HYMEN, IMPERFORATE 237400 : HYPER-BETA-ALANINEMIA 237550 : HYPERBILIRUBINEMIA, CONJUGATED, TYPE III 237900 : HYPERBILIRUBINEMIA, TRANSIENT FAMILIAL NEONATAL 238200 : HYPERCYSTINURIA, ISOLATED 238340 : HYPERLEUCINE-ISOLEUCINEMIA 238350 : HYPERLEXIA 238400 : HYPERLIPIDEMIA, TYPE V 238500 : HYPERLIPIDEMIA, TYPE VI 238710 : HYPERLYSINEMIA DUE TO DEFECT IN LYSINE TRANSPORT INTO MITOCHONDRIA 238750 : HYPERLYSINURIA WITH HYPERAMMONEMIA 238800 : HYPERMETABOLISM DUE TO DEFECT IN MITOCHONDRIA 238950 : HYPEROPIA, HIGH 239199 : HYPERPARATHYROIDISM, NEONATAL SELF-LIMITED PRIMARY, WITH HYPERCALCIURIA 239350 : HYPERPHOSPHATEMIA, POLYURIA, AND SEIZURES 239400 : HYPERPIPECOLATEMIA 239710 : HYPERTELORISM, HYPOSPADIAS, POLYSYNDACTYLY SYNDROME 239711 : HYPERTELORISM AND TETRALOGY OF FALLOT 239840 : HYPERTRICHOSIS, CONGENITAL ANTERIOR CERVICAL, WITH PERIPHERAL SENSORY AND MOTOR NEUROPATHY 239850 : HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA 239900 : HYPERTROPHIC NEUROPATHY AND CATARACT 240000 : HYPERURICEMIA, INFANTILE, WITH ABNORMAL BEHAVIOR AND NORMAL HYPOXANTHINE GUANINE PHOSPHORIBOSYLTRANSFERASE 240100 : HYPERURICEMIA, LIPODYSTROPHY, AND NEUROLOGIC DEFECT 240150 : HYPERVITAMINOSIS A, SUSCEPTIBILITY TO 240400 : HYPOASCORBEMIA 240800 : HYPOGLYCEMIA, LEUCINE-INDUCED 240900 : HYPOGLYCEMIA, NEONATAL, SIMULATING FOETOPATHIA DIABETICA 240950 : HYPOGONADISM-CATARACT SYNDROME 241000 : HYPOGONADISM WITH LOW-GRADE MENTAL DEFICIENCY AND MICROCEPHALY 241090 : HYPOGONADISM, PRIMARY, AND PARTIAL ALOPECIA 241100 : HYPOGONADISM, MALE 241120 : HYPOHIDROSIS WITH ABNORMAL PALMAR DERMAL RIDGES 241519 : HYPOPHOSPHATEMIA, RENAL, WITH INTRACEREBRAL CALCIFICATIONS 241520 : HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL RECESSIVE 241540 : HYPOPITUITARISM, CONGENITAL, WITH CENTRAL DIABETES INSIPIDUS 241550 : HYPOPLASTIC LEFT HEART SYNDROME 241600 : HYPOPROTEINEMIA, HYPERCATABOLIC 241750 : HYPOSPADIAS 241760 : HYPOSPADIAS-MENTAL RETARDATION SYNDROME 241800 : HYPOTHALAMIC HAMARTOMAS 242050 : HYPOURICEMIA, HYPERCALCINURIA, AND DECREASED BONE DENSITY 242150 : ICHTHYOSIFORM ERYTHRODERMA, CORNEAL INVOLVEMENT, AND DEAFNESS 242400 : ICHTHYOSIS CONGENITA WITH BILIARY ATRESIA 242510 : ICHTHYOSIS WITH ALOPECIA, ECLABION, ECTROPION, AND MENTAL RETARDATION 242520 : ICHTHYOSIS, HEPATOSPLENOMEGALY, AND CEREBELLAR DEGENERATION 242530 : ICHTHYOSIS, MENTAL RETARDATION, DWARFISM, AND RENAL IMPAIRMENT 242550 : ICHTHYOSIS, SPLIT HAIRS, AND AMINOACIDURIA 242680 : IMMOTILE CILIA SYNDROME DUE TO EXCESSIVELY LONG CILIA 242800 : IMMUNE DEFECT WITH LYMPHOTOXIC FACTOR 242840 : IMMUNODEFICIENCY WITH CLEFT LIP/PALATE, CATARACT, HYPOPIGMENTATION, AND ABSENT CORPUS CALLOSUM 242850 : IMMUNE DEFICIENCY DISEASE 242870 : IMMUNODEFICIENCY, PARTIAL COMBINED, WITH ABSENCE OF HLA DETERMINANTS AND BETA-2-MICROGLOBULIN FROM LYMPHOCYTES 242880 : IMMUNOERYTHROMYELOID HYPOPLASIA 242890 : IMMUNOGLOBULIN D LEVEL IN PLASMA, LOW 243050 : INDOLYLACROYL GLYCINURIA WITH MENTAL RETARDATION 243060 : INFERTILITY ASSOCIATED WITH MULTI-TAILED SPERMATOZOA AND EXCESSIVE DNA 243080 : INOSINE PHOSPHORYLASE DEFICIENCY, IMMUNE DEFECT DUE TO 243095 : INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO 243100 : INTERNAL CAROTID ARTERIES, HYPOPLASIA OF 243110 : INTERLEUKIN 1, DEFECTIVE T-CELL RESPONSE TO 243185 : INTESTINAL PSEUDOOBSTRUCTION WITH PATENT DUCTUS ARTERIOSUS AND NATAL TEETH 243200 : INTRACRANIAL HYPERTENSION, IDIOPATHIC 243310 : IRIS COLOBOMA WITH PTOSIS, HYPERTELORISM, AND MENTAL RETARDATION 243320 : INTRINSIC FACTOR AND R BINDER, COMBINED CONGENITAL DEFICIENCY OF 243340 : ISCHIADIC HYPOPLASIA WITH RENAL DYSFUNCTION, IMMUNODEFICIENCY, AND POLYDACTYLY 243440 : ISOTRETINOIN EMBRYOPATHY-LIKE SYNDROME 243450 : ISOVALERIC ACID, INABILITY TO SMELL 243605 : JEJUNAL ATRESIA WITH MICROCEPHALY AND OCULAR ANOMALIES 243700 : JOB SYNDROME 243910 : JOUBERT SYNDROME WITH BILATERAL CHORIORETINAL COLOBOMA 244100 : JUMPING FRENCHMAN OF MAINE 244300 : KAPUR-TORIELLO SYNDROME 244500 : KERATOCONUS 244510 : KERATOCONUS AND CONGENITAL HIP DYSPLASIA 244600 : KERATOCONUS POSTICUS CIRCUMSCRIPTUS; KPC 244850 : KERATODERMA, PALMOPLANTAR, NORRBOTTEN RECESSIVE TYPE 245130 : KETOADIPICACIDURIA 245160 : KNIEST-LIKE DYSPLASIA WITH PURSED LIPS AND ECTOPIA LENTIS 245180 : KIFAFA SEIZURE DISORDER 245190 : KNIEST-LIKE DYSPLASIA, LETHAL 245210 : KOUSSEFF SYNDROME 245300 : KURU 245340 : LACTATE TRANSPORTER DEFECT, MYOPATHY DUE TO 245348 : LACTIC ACIDEMIA DUE TO DEFECT OF E2 LIPOYL TRANSACETYLASE OF THE PYRUVATE DEHYDROGENASE COMPLEX 245450 : LACTIC ACIDURIA DUE TO D-LACTIC ACID 245550 : LAMBERT SYNDROME 245552 : LAMBOTTE SYNDROME 245570 : LANDAU-KLEFFNER SYNDROME; LKS 245590 : LARON SYNDROME, TYPE II 245650 : LARSEN-LIKE SYNDROME, LETHAL TYPE 246300 : LEPROSY, VULNERABILITY TO 246470 : LEUKEMIA, ACUTE MYELOCYTIC, WITH POLYPOSIS COLI AND COLON CANCER 246500 : LEUKOMELANODERMA, INFANTILISM, MENTAL RETARDATION, HYPODONTIA, HYPOTRICHOSIS 246550 : LICHTENSTEIN SYNDROME 246555 : LIMB DEFECTS, DISTAL TRANSVERSE, WITH MENTAL RETARDATION AND SPASTICITY 246560 : LIMB DEFICIENCIES, DISTAL, WITH MICROGNATHIA 246570 : LIMB DEFICIENCY-HEART MALFORMATION SYNDROME 246650 : LIPASE DEFICIENCY, COMBINED 247150 : LIP PRINTS 247410 : LYMPHEDEMA-HYPOPARATHYROIDISM SYNDROME 247420 : LUTHERAN NULL 247430 : LYMPHOBLASTIC TRANSFORMATION, INHIBITION OF 247440 : LYMPHEDEMA, CONGENITAL RECESSIVE 247450 : LYMPHOBLASTIC TRANSFORMATION, INTRINSIC DEFECT IN 247610 : LYMPHOID INTERSTITIAL PNEUMONIA; LIP 247630 : LYMPHOID SYSTEM DETERIORATION, PROGRESSIVE 247640 : LYMPHOBLASTIC LEUKEMIA, ACUTE, WITH LYMPHOMATOUS FEATURES; LALL 247650 : LYMPHOKINE DEFICIENCY 247900 : LYSINE INTOLERANCE 247950 : LYSINE MALABSORPTION SYNDROME 247990 : MACDERMOT-WINTER SYNDROME 248000 : MACROCEPHALY 248010 : MACROEPIPHYSEAL DYSPLASIA WITH OSTEOPOROSIS, WRINKLED SKIN, AND AGED APPEARANCE 248100 : MACROSOMIA ADIPOSA CONGENITA 248110 : MACROSOMIA WITH MICROPHTHALMIA, LETHAL 248190 : MACULAR COLOBOMA, BILATERAL, WITH HYPERCALCIURIA 248260 : MAGNESIUM, ELEVATED RED CELL 248340 : MALPUECH FACIAL CLEFTING SYNDROME 248350 : MALOCCLUSION, DENTAL, AND SHORT STATURE 248390 : MANDIBULOFACIAL DYSOSTOSIS, TREACHER COLLINS TYPE, AUTOSOMAL RECESSIVE 248400 : MANDIBULOFACIAL DYSOSTOSIS WITH MENTAL DEFICIENCY 248450 : MANITOBA OCULOTRICHOANAL SYNDROME; MOTA 248760 : MARFANOID HABITUS WITH MICROCEPHALY AND GLOMERULONEPHRITIS 248770 : MARFANOID MENTAL RETARDATION SYNDROME, AUTOSOMAL 248810 : MARINESCO-SJOGREN-LIKE SYNDROME; MSLS 248910 : MASTOCYTOSIS, CUTANEOUS, WITH SHORT STATURE, CONDUCTIVE HEARING LOSS AND MICROTIA 248950 : MCDONOUGH SYNDROME 249230 : MEGAEPIPHYSEAL DWARFISM 249240 : MEGALENCEPHALY WITH DYSMYELINATION 249300 : MEGALOCORNEA 249400 : MELANOSIS, NEUROCUTANEOUS 249420 : MELNICK-NEEDLES SYNDROME 249500 : MENTAL RETARDATION, RECESSIVE 249599 : MENTAL RETARDATION SYNDROME, BELGIAN TYPE 249600 : MENTAL RETARDATION SYNDROME, MIETENS-WEBER TYPE 249630 : MENTAL RETARDATION, BUENOS AIRES TYPE 249660 : MESANGIAL SCLEROSIS, DIFFUSE RENAL, WITH OCULAR ABNORMALITIES 249670 : MESOAXIAL HEXADACTYLY AND CARDIAC MALFORMATION 249710 : MESOMELIC LIMB SHORTENING AND BOWING 249800 : METACHROMATIC LEUKODYSTROPHY AND AMAUROTIC IDIOCY, COMBINED FEATURES OF 250215 : METAPHYSEAL ACROSCYPHODYSPLASIA 250220 : METAPHYSEAL CHONDRODYSPLASIA, CONGENITAL LETHAL 250230 : METAPHYSEAL CHONDRODYSPLASIA, KAITILA TYPE 250300 : METAPHYSEAL CHONDRODYSPLASIA, PENA TYPE 250400 : METAPHYSEAL CHONDRODYSPLASIA, SPAHR TYPE 250410 : METAPHYSEAL CHONDRODYSPLASIA WITH RETINITIS PIGMENTOSA 250420 : METAPHYSEAL DYSOSTOSIS, MENTAL RETARDATION, AND CONDUCTIVE DEAFNESS 250450 : METAPHYSEAL DYSPLASIA, ANETODERMA, AND OPTIC ATROPHY 250460 : METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS 250500 : METAPHYSEAL MODELING ABNORMALITY, SKIN LESIONS, AND SPASTIC PARAPLEGIA 250650 : METHANE PRODUCTION 250700 : METHEMOGLOBIN REDUCTASE DEFICIENCY; TPNH- 250951 : 3-@METHYLGLUTACONICACIDURIA, TYPE IV 251120 : METHYLMALONICACIDURIA III 251190 : MICROCEPHALIC PRIMORDIAL DWARFISM, TORIELLO TYPE 251220 : MICROCEPHALY-CARDIOMYOPATHY 251240 : MICROCEPHALY WITH CHEMOTACTIC DEFECT AND TRANSIENT HYPOGAMMAGLOBULINEMIA 251250 : MICROCEPHALY WITH CERVICAL SPINE FUSION ANOMALIES 251255 : MICROCEPHALY WITH DIGITAL ANOMALIES 251280 : MICROCEPHALY WITH SPASTIC QUADRIPLEGIA 251290 : PSEUDO-TORCH SYNDROME 251400 : MICROCOLON 251455 : MICROMELIC DYSPLASIA, CONGENITAL, WITH DISLOCATION OF RADIUS 251505 : MICROPHTHALMIA WITH COLOBOMATOUS CYST 251700 : MICROPHTHALMOS WITH HYPERMETROPIA, RETINAL DEGENERATION, MACROPHAKIA AND DENTAL ANOMALIES 251750 : MICROSPHEROPHAKIA 251880 : MITOCHONDRIAL DNA DEPLETION SYNDROME 251900 : MITOCHONDRIAL MYOPATHY 251945 : MITOCHONDRIAL MYOPATHY WITH A DEFECT IN MITOCHONDRIAL-PROTEIN TRANSPORT 251950 : MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS 252011 : COMPLEX II, MITOCHONDRIAL RESPIRATORY CHAIN, DEFICIENCY OF 252030 : MITRAL VALVE PROLAPSE AND OPHTHALMOPLEGIA 252200 : MONILETHRIX 252250 : MONOCYTE CHEMOTACTIC DISORDER 252270 : MONOSOMY 7 OF BONE MARROW 252300 : MORQUIO SYNDROME, NONKERATOSULFATE-EXCRETING TYPE 252320 : MOTOR NEUROPATHY, PERIPHERAL, WITH DYSAUTONOMIA 253320 : MULTICORE MYOPATHY WITH MENTAL RETARDATION, SHORT STATURE, AND HYPOGONADOTROPIC HYPOGONADISM 253500 : MUSCULAR ATROPHY, PROGRESSIVE 253590 : MUSCULAR DYSTROPHY, ADULT-ONSET, WITH LEUKOENCEPHALOPATHY 253850 : MUSCULAR DYSTROPHY, CONGENITAL, EICHSFELD TYPE 254000 : MUSCULAR DYSTROPHY, CONGENITAL, WITH INFANTILE CATARACT AND HYPOGONADISM 254090 : MUSCULAR DYSTROPHY, SCLEROATONIC 254100 : MUSCULAR DYSTROPHY, CONGENITAL, WITH RAPID PROGRESSION 254120 : MUSCULAR HYPERTONIA, LETHAL 254190 : MYASTHENIA, CONGENITAL, REFRACTORY TO ACETYLCHOLINESTERASE INHIBITORS 254195 : MYASTHENIA, CONGENITAL, PREDOMINANTLY FACIAL AND MASTICATORY 254200 : MYASTHENIA GRAVIS; MG 254300 : MYASTHENIC MYOPATHY 254400 : MYCOSIS FUNGOIDES 254450 : MYELOFIBROSIS, FAMILIAL 254700 : MYELOPROLIFERATIVE DISEASE 254940 : MYOPATHY, CONGENITAL NONPROGRESSIVE, WITH MOEBIUS SEQUENCE AND ROBIN SEQUENCE 254950 : MYOPATHY, GRANULOVACUOLAR LOBULAR, WITH ELECTRICAL MYOTONIA 254960 : MYOPATHY DUE TO MALATE-ASPARTATE SHUTTLE DEFECT 255100 : MYOPATHY WITH ABNORMAL LIPID METABOLISM 255140 : MYOPATHY WITH GIANT ABNORMAL MITOCHONDRIA 255160 : MYOPATHY WITH LYSIS OF TYPE I MYOFIBRILS 255200 : MYOPATHY, CENTRONUCLEAR 255310 : MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION 255500 : MYOPIA, INFANTILE SEVERE 255600 : MYOSCLEROSIS, CONGENITAL, OF LOWENTHAL 255710 : MYOTONIA WITH SKELETAL ABNORMALITIES AND MENTAL RETARDATION 255900 : MYXEDEMA 255980 : NASODIGITOACOUSTIC SYNDROME 255990 : NATHALIE SYNDROME 255995 : NATIVE AMERICAN MYOPATHY 256020 : NAIL-PATELLA-LIKE RENAL DISEASE 256040 : NAKAJO SYNDROME 256120 : NEPHROPATHY, DEAFNESS, AND HYPERPARATHYROIDISM 256150 : NEPHROSIALIDOSIS 256200 : NEPHROSIS WITH DEAFNESS AND URINARY TRACT AND DIGITAL MALFORMATIONS 256350 : NEPHROTIC SYNDROME WITH FOCAL GLOMERULAR SCLEROSIS 256690 : NEUROFACIODIGITORENAL SYNDROME 256720 : NEUROLOGIC DISEASE, INFANTILE MULTISYSTEM, WITH OSSEOUS FRAGILITY 256840 : NEUROPATHY, HEREDITARY SENSORY, WITH SPASTIC PARAPLEGIA 256851 : NEUROPATHY, GIANT AXONAL, TUNISIAN FORM 256860 : NEUROPATHY, HEREDITARY SENSORY, ATYPICAL 256870 : NEUROPATHY, PAINFUL 257000 : NEUROVISCERAL STORAGE DISEASE WITH CURVILINEAR BODIES 257050 : NEUROVISCERAL STORAGE DISEASE WITH VERTICAL SUPRANUCLEAR OPHTHALMOPLEGIA 257100 : NEUTROPENIA, LETHAL CONGENITAL, WITH EOSINOPHILIA 257300 : NONDISJUNCTION 257350 : NUCHAL BLEB, FAMILIAL 257400 : NYSTAGMUS, CONGENITAL MOTOR, AUTOSOMAL RECESSIVE 257500 : OBESITY-HYPOVENTILATION SYNDROME 257790 : OCULOCEREBRAL HYPOPIGMENTATION SYNDROME OF PREUS 257910 : OCULOPALATOCEREBRAL DWARFISM 257920 : OCULOPALATOSKELETAL SYNDROME 257960 : OCULOTRICHODYSPLASIA; OTD 257980 : ODONTOONYCHODERMAL DYSPLASIA 258040 : OEIS COMPLEX 258200 : OLIVER SYNDROME 258315 : OMODYSPLASIA, GENERALIZED FORM 258320 : OMPHALOCELE-CLEFT PALATE SYNDROME, LETHAL 258450 : OPHTHALMOPLEGIA, PROGRESSIVE EXTERNAL 258470 : OPHTHALMOPLEGIC NEUROMUSCULAR DISORDER WITH ABNORMAL MITOCHONDRIA 258500 : OPTIC ATROPHY, CONGENITAL OR EARLY INFANTILE 258650 : OPTIC ATROPHY, NERVE DEAFNESS, AND DISTAL NEUROGENIC AMYOTROPHY 258660 : OPTIC NEUROPATHY, ANTERIOR ISCHEMIC 258800 : ORAL SENSIBILITY, DISTURBANCE OF 258840 : ORAL AND DIGITAL ANOMALIES WITH ICHTHYOSIS 258860 : ORAL-FACIAL-DIGITAL SYNDROME, TYPE IV 258865 : ORAL-FACIAL-DIGITAL SYNDROME WITH RETINAL ABNORMALITIES 258920 : OROTICACIDURIA II 259050 : OSSIFIED EAR CARTILAGES WITH MENTAL DEFICIENCY, MUSCLE WASTING, AND BONY CHANGES 259100 : OSTEOARTHROPATHY, FAMILIAL IDIOPATHIC, OF CHILDHOOD 259200 : OSTEOCHONDROSIS DEFORMANS TIBIAE, FAMILIAL INFANTILE TYPE 259270 : OSTEODYSPLASTY, PRECOCIOUS, OF DANKS, MAYNE, AND KOZLOWSKI 259410 : OSTEOGENESIS IMPERFECTA CONGENITA, MICROCEPHALY, AND CATARACTS 259440 : OSTEOGENESIS IMPERFECTA, SILLENCE TYPE II/III, WITHOUT ABNORMALITY OF TYPE I COLLAGEN 259550 : OSTEOID OSTEOMA 259600 : OSTEOLYSIS, HEREDITARY MULTICENTRIC 259610 : OSTEOLYSIS SYNDROME, RECESSIVE 259650 : OSTEOMA OF MIDDLE EAR 259660 : OSTEOMALACIA, SCLEROSING, WITH CEREBRAL CALCIFICATION 259680 : OSTEOMYELITIS, CHRONIC MULTIFOCAL; OCM 259690 : OSTEOPENIA AND SPARSE HAIR 259710 : OSTEOPETROSIS, MILD AUTOSOMAL RECESSIVE FORM 259720 : OSTEOPETROSIS, LETHAL 259750 : OSTEOPOROSIS, JUVENILE 259775 : OSTEOSCLEROTIC BONE DYSPLASIA, LETHAL 260100 : PA POLYMORPHISM OF ALPHA-2-GLOBULIN 260130 : PACHYONYCHIA CONGENITA, RECESSIVE 260150 : PALANT CLEFT PALATE SYNDROME 260200 : PALLIDAL DEGENERATION, PROGRESSIVE, WITH RETINITIS PIGMENTOSA 260450 : PANCREATIC INSUFFICIENCY, COMBINED EXOCRINE 260470 : PANENCEPHALITIS, SUBACUTE SCLEROSING 260480 : PANCREATITIS, SCLEROSING CHOLANGITIS, AND SICCA COMPLEX 260500 : PAPILLOMA OF CHOROID PLEXUS 260530 : PARANA HARD-SKIN SYNDROME 260540 : PARKINSON-DEMENTIA SYNDROME 260555 : PARTINGTON-ANDERSON SYNDROME 260570 : PELGER-HUET-LIKE ANOMALY AND EPISODIC FEVER WITH ABDOMINAL PAIN 260650 : PELLAGRA-LIKE SYNDROME 260660 : PELVISCAPULAR DYSPLASIA 260900 : PERICARDIAL EFFUSION, CHRONIC 260910 : PERIFOLLICULITIS CAPITIS ABSCEDENS ET SUFFODIENS, FAMILIAL 260950 : PERIODONTOSIS, JUVENILE 260970 : PERIPHERAL NEUROPATHY, ATAXIA, FOCAL NECROTIZING ENCEPHALOPATHY, AND SPONGY DEGENERATION OF BRAIN 260980 : PERISYLVIAN SYNDROME, CONGENITAL BILATERAL; CBPS 261400 : PERONEUS TERTIUS MUSCLE, ABSENCE OF 261560 : PFEIFFER-PALM-TELLER SYNDROME 261575 : PHAVER SYNDROME 261590 : PHENFORMIN 4-HYDROXYLATION 261660 : PHOSPHOFRUCTOKINASE, RED CELL, FETAL TYPE 261740 : PHOSPHORYLASE KINASE DEFICIENCY OF HEART 261800 : PIERRE ROBIN SYNDROME 261900 : PILI TORTI 261990 : PILI TORTI AND DEVELOPMENTAL DELAY 262020 : PILODENTAL DYSPLASIA WITH REFRACTIVE ERRORS 262700 : PITUITARY DWARFISM WITH SMALL SELLA TURCICA 262710 : PITUITARY DWARFISM WITH LARGE SELLA TURCICA 262800 : PLASMA CLOT RETRACTION FACTOR, DEFICIENCY OF 262875 : PLATELET PROSTACYCLIN RECEPTOR DEFECT 262890 : PLATELET RECEPTOR FOR FACTOR X, DEFICIENCY OF 262900 : PLEOCONIAL MYOPATHY WITH SALT CRAVING 263100 : POLYCYSTIC KIDNEY, CATARACT, AND CONGENITAL BLINDNESS 263300 : POLYCYTHEMIA VERA 263450 : POLYDACTYLY, POSTAXIAL 263510 : POLYDACTYLY WITH NEONATAL CHONDRODYSTROPHY, TYPE III 263540 : POLYDACTYLY, POSTAXIAL, WITH DENTAL AND VERTEBRAL ANOMALIES 263550 : POLYMYOCLONUS, INFANTILE 263560 : POLYNEUROPATHY, MIXED, OF EARLY ONSET 263600 : POLYSACCHARIDE, STORAGE OF UNUSUAL 263610 : POLYHYDRAMNIOS, CHRONIC IDIOPATHIC 263630 : POLYSYNDACTYLY WITH CARDIAC MALFORMATION 264010 : PRADER-WILLI HABITUS, OSTEOPENIA, AND CAMPTODACTYLY 264050 : PRENATAL BOWING 264060 : PREPAPILLARY VASCULAR LOOPS 264110 : PROLACTIN DEFICIENCY, ISOLATED 264120 : PROLACTIN DEFICIENCY WITH OBESITY AND ENLARGED TESTES 264140 : PRUNE BELLY SYNDROME WITH PULMONIC STENOSIS, MENTAL RETARDATION, AND DEAFNESS 264150 : PSEUDOACHONDROPLASTIC DYSPLASIA II 264180 : PSEUDODIASTROPHIC DYSPLASIA 264420 : FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, RECESSIVE FORM 264475 : PSEUDOPAPILLEDEMA, OCULAR HYPOTELORISM, BLEPHAROPHIMOSIS, AND HAND ANOMALIES 264480 : PSEUDOTRISOMY 13 SYNDROME 264500 : PSEUDOURIDINURIA AND MENTAL DEFECT 264810 : PSEUDOXANTHOMA ELASTICUM, RECESSIVE TYPE II 265050 : PTOSIS OF EYELIDS WITH DIASTASIS RECTI AND HIP DYSPLASIA 265140 : PULMONARY ARTERIOVENOUS FISTULAS 265150 : PULMONARY ATRESIA WITH INTACT VENTRICULAR SEPTUM 265200 : PULMONARY BULLAE CAUSING PNEUMOTHORAX 265300 : PULMONARY CYSTIC LYMPHANGIECTASIS 265380 : PULMONARY HYPERTENSION, FAMILIAL PERSISTENT, OF THE NEWBORN 265400 : PULMONARY HYPERTENSION, PRIMARY 265430 : PULMONARY HYPOPLASIA 265450 : PULMONARY VENOOCCLUSIVE DISEASE 265500 : PULMONIC STENOSIS 265600 : PULMONIC STENOSIS AND CONGENITAL NEPHROSIS 265880 : PYKNOACHONDROGENESIS 266255 : RADIOULNAR SYNOSTOSIS, UNILATERAL, WITH DEVELOPMENTAL RETARDATION AND HYPOTONIA 266270 : RAMON SYNDROME 266280 : RAPADILINO SYNDROME 266400 : REESE RETINAL DYSPLASIA 266810 : RENAL AND MULLERIAN DUCT HYPOPLASIA 266910 : RENAL DYSPLASIA-LIMB DEFECTS SYNDROME 266920 : RENAL DYSPLASIA, RETINAL PIGMENTARY DYSTROPHY, CEREBELLAR ATAXIA, AND SKELETAL DYSPLASIA 267010 : RENAL-HEPATIC-PANCREATIC DYSPLASIA WITH DANDY-WALKER CYST 267200 : RENAL TUBULAR ACIDOSIS III 267400 : RENAL, GENITAL, AND MIDDLE EAR ANOMALIES 267450 : RESPIRATORY DISTRESS SYNDROME 267480 : RESPIRATORY UNDERRESPONSIVENESS TO HYPOXIA AND HYPERCAPNIA 267730 : RETICULUM CELL SARCOMA 267740 : RETINAL DEGENERATION AND EPILEPSY 267760 : RETINAL DEGENERATION WITH NANOPHTHALMOS, CYSTIC MACULAR DEGENERATION, AND ANGLE CLOSURE GLAUCOMA 267800 : RETINAL DYSTROPHY, RETICULAR PIGMENTARY, OF POSTERIOR POLE 267900 : RETINAL TELANGIECTASIA AND HYPOGAMMAGLOBULINEMIA 268010 : RETINITIS PIGMENTOSA INVERSA WITH DEAFNESS 268020 : RETINITIS PIGMENTOSA, DEAFNESS, MENTAL RETARDATION, AND HYPOGONADISM 268025 : RETINITIS PIGMENTOSA, LATE-ADULT ONSET 268030 : RETINITIS PIGMENTOSA, PPRPE TYPE 268040 : RETINOHEPATOENDOCRINOLOGIC SYNDROME 268050 : RETINOPATHY, PIGMENTARY, AND MENTAL RETARDATION 268060 : RETINOPATHY, PERICENTRAL PIGMENTARY, RECESSIVE 268130 : REVESZ SYNDROME 268240 : RHEUMATIC FEVER-RELATED ANTIGEN 268250 : RHIZOMELIC SYNDROME 268305 : ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES 268315 : ROD-CONE DYSTROPHY, SENSORINEURAL DEAFNESS, AND FANCONI-TYPE RENAL DYSFUNCTION 268320 : RODRIGUES BLINDNESS 268500 : ROWLEY-ROSENBERG SYNDROME 268650 : RUDIGER SYNDROME 268700 : SACCHAROPINURIA 268850 : SAO PAULO MCA/MR SYNDROME 268950 : SARCOTUBULAR MYOPATHY 269150 : SCHINZEL-GIEDION MIDFACE-RETRACTION SYNDROME 269160 : SCHIZENCEPHALY, FAMILIAL 269200 : SCHMIDT SYNDROME 269300 : SCHWARTZ-LELEK SYNDROME 269400 : SCLEROCORNEA 269600 : SEA-BLUE HISTIOCYTE DISEASE 269630 : SECOND METATARSAL-METACARPAL SYNDROME 269650 : SECRETORY COMPONENT DEFICIENCY 269720 : SEIZURES, BENIGN FAMILIAL NEONATAL 269800 : SENILE PLAQUE FORMATION 269840 : SEVERE COMBINED IMMUNODEFICIENCY, ATYPICAL 269870 : SHORT STATURE-OBESITY SYNDROME; SSOS 269880 : SHORT SYNDROME 269950 : SIDEROBLASTIC ANEMIA, AUTOSOMAL 270150 : SJOGREN SYNDROME 270220 : SJOGREN-LARSSON-LIKE ICHTHYOSIS WITHOUT CNS OR EYE INVOLVEMENT 270230 : SKELETAL DYSPLASIA, SAN DIEGO TYPE 270240 : SKELETAL DYSPLASIA WITH TELANGIECTASES AND MESODERMAL DYSGENESIS OF THE IRIS 270350 : SKUNK N-BUTYLMERCAPTAN, INABILITY TO SMELL 270420 : SODIUM DIARRHEA, CONGENITAL 270425 : SODIUM-POTASSIUM-ATPase ACTIVITY OF RED CELL 270450 : SOMATOMEDIN, END-ORGAN INSENSITIVITY TO 270460 : SONODA SYNDROME 270500 : SPASTIC ATAXIA 270680 : SPASTIC PARAPARESIS, VITILIGO, PREMATURE GRAYING, CHARACTERISTIC FACIES 270710 : FITZSIMMONS-GUILBERT SYNDROME 270750 : SPASTIC PARAPLEGIA WITH PIGMENTARY ABNORMALITIES 270805 : SPASTIC PARAPLEGIA WITH MYOCLONIC EPILEPSY 270850 : SPASTIC PARESIS, GLAUCOMA, AND MENTAL RETARDATION 270900 : SPASTIC PSEUDOSCLEROSIS 270950 : SPASTIC QUADRIPLEGIA, RETINITIS PIGMENTOSA, AND MENTAL RETARDATION 270960 : SPERMATOGENESIS ARREST 271100 : SPINAL EXTRADURAL CYST 271109 : SPINAL MUSCULAR ATROPHY WITH MENTAL RETARDATION 271110 : SPINAL MUSCULAR ATROPHY WITH MICROCEPHALY AND MENTAL SUBNORMALITY 271120 : SPINAL MUSCULAR ATROPHY, DISTAL 271150 : SPINAL MUSCULAR ATROPHY, PROXIMAL, ADULT TYPE 271200 : SPINAL MUSCULAR ATROPHY, RYUKYUAN TYPE 271220 : SPINAL MUSCULAR ATROPHY, SCAPULOPERONEAL 271225 : SPINAL MUSCULAR ATROPHY, TYPE I, WITH CONGENITAL BONE FRACTURES 271250 : SPINOCEREBELLAR ATAXIA WITH BLINDNESS AND DEAFNESS 271270 : SPINOCEREBELLAR ATAXIA WITH DYSMORPHISM 271310 : SPINOCEREBELLAR DEGENERATION AND CORNEAL DYSTROPHY 271320 : SPINOCEREBELLAR DEGENERATION WITH MACULAR CORNEAL DYSTROPHY, CONGENITAL CATARACTS, AND MYOPIA 271322 : SPINOCEREBELLAR DEGENERATION WITH SLOW EYE MOVEMENTS; SDSEM 271500 : SPLENOPORTAL VASCULAR ANOMALIES 271510 : SPONASTRIME DYSPLASIA 271520 : SPONDYLOCOSTAL DYSOSTOSIS WITH ANAL ATRESIA AND UROGENITAL ANOMALIES 271530 : SPONDYLODYSPLASIA WITH PURE BRACHYOLMIA 271620 : SPONDYLOEPIPHYSEAL DYSPLASIA TARDA WITH MENTAL RETARDATION 271665 : SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE 271700 : SPONDYLOPERIPHERAL DYSPLASIA WITH SHORT ULNA 271930 : STRIATONIGRAL DEGENERATION, INFANTILE 271950 : SUBAORTIC STENOSIS, MEMBRANOUS 271960 : SUBAORTIC STENOSISSHORT STATURE SYNDROME 272000 : SUCROSURIA, HIATUS HERNIA AND MENTAL RETARDATION 272100 : SUDANOPHILIC CEREBRAL SCLEROSIS 272120 : SUDDEN INFANT DEATH SYNDROME 272150 : SUGARMAN BRACHYDACTYLY 272350 : SUMMITT SYNDROME 272430 : SWEATING, COLD-INDUCED 272440 : SYNDACTYLY, TYPE I, WITH MICROCEPHALY AND MENTAL RETARDATION 272450 : SYNDESMODYSPLASIC DWARFISM 272480 : SYRINGOMYELIA 272500 : SYSTEMIC CYSTIC ANGIOMATOSIS AND SEIP SYNDROME 272550 : TACHYCARDIA, HYPERTENSION, MICROPHTHALMOS, AND HYPERGLYCINURIA 272600 : TAPETORETINAL DEGENERATION WITH ATAXIA 272620 : TARDIVE DYSKINESIA 272700 : TAURODONTISM 272950 : TEEBI-SHALTOUT SYNDROME 272980 : TEETH, CONGENITAL ABSENCE OF, WITH TAURODONTIA AND SPARSE HAIR 273000 : TEETH, FUSED 273050 : TEETH, NONERUPTION OF, WITH MAXILLARY HYPOPLASIA AND GENU VALGUM 273120 : TERATOMA, PINEAL 273150 : TESTES, RUDIMENTARY 273250 : TESTICULAR REGRESSION SYNDROME; TRS 273390 : TETRA-AMELIA WITH ECTODERMAL DYSPLASIA AND LACRIMAL DUCT ABNORMALITIES 273400 : TETRAMELIC DEFICIENCIES, ECTODERMAL DYSPLASIA, DEFORMED EARS, AND OTHER ABNORMALITIES 273490 : THALAMIC DEGENERATION, SYMMETRIC INFANTILE 273600 : THALIDOMIDE SUSCEPTIBILITY 273680 : THANATOPHORIC DYSPLASIA, GLASGOW VARIANT 273730 : THORACIC DYSPLASIA-HYDROCEPHALUS SYNDROME 273740 : THORACOMELIC DYSPLASIA 273770 : THREONINEMIA 274200 : THUMB, DISTAL HYPEREXTENSIBILITY OF 274205 : THUMB, HYPOPLASTIC, WITH CHOROID COLOBOMA, POORLY DEVELOPED ANTIHELIX, AND DEAFNESS 274210 : THYMIC APLASIA WITH FETAL DEATH 274230 : THYMOMA, FAMILIAL 274240 : THYROCEREBRORETINAL SYNDROME 274260 : THYMIC NEOPLASIA 274265 : THYMIC-RENAL-ANAL-LUNG DYSPLASIA 274900 : THYROID HORMONOGENESIS, GENETIC DEFECT IN, V 275190 : TIGLICACIDEMIA 275220 : TIBIA, ABSENCE OF 275230 : TIBIA, ABSENCE OF, WITH CONGENITAL DEAFNESS 275240 : TINEA IMBRICATA, SUSCEPTIBILITY TO 275300 : TRACHEOBRONCHOMEGALY 275400 : TRICHOMEGALY WITH MENTAL RETARDATION, DWARFISM, AND PIGMENTARY DEGENERATION OF RETINA 275450 : TRICHOODONTOONYCHIAL DYSPLASIA 275500 : TRICHORHINOPHALANGEAL SYNDROME, RECESSIVE FORM 275550 : TRICHORRHEXIS NODOSA SYNDROME 275595 : TRIGONOBRACHYCEPHALY, BULBOUS BIFID NOSE, MICROGNATHIA, AND ABNORMALITIES OF THE HANDS AND FEET 275600 : TRIGONOCEPHALY 276200 : T-SUBSTANCE ANOMALY 276400 : TWINNING, DIZYGOTIC 276410 : TWINNING, MONOZYGOTIC 276500 : TYROSINE METABOLISM, DELAYED MATURATION IN 276800 : TYROSINOSIS 276821 : ULNAR HYPOPLASIA WITH MENTAL RETARDATION 276822 : ULNAR AGENESIS AND ENDOCARDIAL FIBROELASTOSIS 276850 : UPSHAW FACTOR, DEFICIENCY OF 276880 : UROCANASE DEFICIENCY 276950 : VACTERL ASSOCIATION WITH HYDROCEPHALUS 277000 : VAGINA, ABSENCE OF 277175 : VASCULAR HYALINOSIS 277200 : VENTRICLE, HYPOPLASIA OF RIGHT 277380 : VITAMIN B12 LYSOSOMAL RELEASE DEFECT 277420 : VITAMIN D-DEPENDENT RICKETS, TYPE II 277465 : VITILIGO, PROGRESSIVE, WITH MENTAL RETARDATION AND URETHRAL DUPLICATION 277590 : WEAVER SYNDROME 277720 : WHISTLING FACE SYNDROME, RECESSIVE FORM 277740 : WHITE FORELOCK WITH MALFORMATIONS 277970 : WISKOTT-ALDRICH SYNDROME 277990 : WOLFF MENTAL RETARDATION SYNDROME 278100 : WOLMAN DISEASE WITH HYPOLIPOPROTEINEMIA AND ACANTHOCYTOSIS 278150 : WOOLLY HAIR, AUTOSOMAL RECESSIVE 278200 : WOOLLY HAIR, HYPOTRICHOSIS, EVERTED LOWER LIP, AND OUTSTANDING EARS 278810 : XERODERMA PIGMENTOSUM IX 278850 : XX MALE SYNDROME 278900 : XYLOSIDASE DEFICIENCY 279000 : YOUNG SYNDROME 280000 : ZUNICH NEUROECTODERMAL SYNDROME
Extractions: Text Size A A A Front Page ... Genetic Disorders : Ablepharon-Macrostomia Syndrome Mayo Clinic Develops New Coma Measurement System (September 8, 2005) full story Nitric Oxide Could Extend Fertility (September 8, 2005) Biochemistry , an American Chemical Society journal. full story Flipped, Expelled, Copied, And Shrunk: Researchers Document Dramatic Genome Alterations During Primate Evolution (September 6, 2005) Genome Research presents a series of studies that provide insight into the evolution and variation of primate genomes. The issue will appear online and in print on September 1, concomitant with the publication of the chimpanzee genome sequence in the journal Nature full story Discovery Will Aid Identification Of Misregulated Genes In Rett Syndrome (September 4, 2005) Molecular Cell that the "Rett Syndrome protein", MeCP2, only binds to genes with a specific sequence of nucleotide bases. This knowledge will aid in the identification of the genes that are regulated by the gene MECP2. This work was supported, in part, by the Rett Syndrome Research Foundation (RSRF).
Extractions: Text Size A A A Front Page ... Conditions and Diseases : Genetic Disorders Prions Rapidly 'Remodel' Good Protein Into Bad, Brown Study Shows (September 8, 2005) full story Detecting Brain Infections Without Surgery (September 7, 2005) full story Breast Cancer Gene Increases Risk Of Several Cancers In Men (September 6, 2005) Journal of Medical Genetics . The mutation in the BRAC2 gene may also increase the risk of bone and throat cancers, the data suggest. full story Study Reveals Genomics Of Inflammation From Severe Injury (September 6, 2005) full story Marijuana-derived Drug Suppresses Bladder Overactivity And Irritation In Animal Models (September 6, 2005) full story RNA Research Reveals New Responsibilities (September 6, 2005)
Entrez PubMed ablepharonmacrostomia syndrome (AMS) is a rare condition comprising severedeficiency of the anterior lamella of both eyelids, abnormal ears, macrostomia, http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=1
Opera Directory A list of features for ablepharonmacrostomia syndrome. NORD Ablepharon MacrostomiaSyndrome. A look at the alternate name, a general discussion and http://portal.opera.com/directory/?cat=525001
