JMG Online -- Table Of Contents (35 [10]) Hypoplastic left heart in cerebrocostomandibular syndrome E Kirk and L Ades JMed Genet 1998; 35 879. Another dystonia MW Partington http://jmg.bmjjournals.com/content/vol35/issue10/
Extractions: [Search ALL Issues] To see an article , click its [Full Text] link. To review many abstracts , check the boxes to the left of the titles you want, and click the 'Get All Checked Abstract(s)' button. To see one abstract at a time , click its [Abstract] link. Articles Clinical features, molecular genetics, and pathophysiology of dominant optic atrophy
JMG Online -- Table Of Contents (28 [10]) cerebrocostomandibular syndrome in four sibs, two pairs of twins V DrossouAgakidou,A Andreou, V Soubassi-Griva, and M Pandouraki http://jmg.bmjjournals.com/content/vol28/issue10/
Extractions: [Search ALL Issues] To see an article , click its [Full Text] link. To review many abstracts , check the boxes to the left of the titles you want, and click the 'Get All Checked Abstract(s)' button. To see one abstract at a time , click its [Abstract] link. Articles Molecular and cytogenetic studies of the Prader-Willi syndrome
WHO | North America BOWENCONRADI SYNDROME, 1. cerebrocostomandibular syndrome, 1. FRONTONASAL DYSPLASIAWITH BASAL ENCEPHALOCELE, 1. KABUR SYNDROME, 1. MARFAN S SYNDROME, 1 http://www.who.int/genomics/anomalies/syndromelist/en/
Extractions: North America List of syndromes Updated: March 2005 North America: List of syndromes Description Freq. ACHONDROGENESIS TYPE IB ACHONDROPLASIA HAY-WELLS SYNDROME ASPHYXIATING THORACIC DYSTROPHY BOWEN-CONRADI SYNDROME CEREBROCOSTOMANDIBULAR SYNDROME FRONTONASAL DYSPLASIA WITH BASAL ENCEPHALOCELE KABUR SYNDROME MARFAN'S SYNDROME MOEBIUS SYNDROME PRADER WILLI SYNDROME SEPTO-OPTIC DYSPLASIA THANATOPHORIC SHORT STATURE MECKEL SYNDROME SEVERE FOETAL ALCOHOL SYNDROME CONJOINT TWINS FANCONIS ANEMIA SYNDROME OPITZ TRIGONOCEPHALY OSTEOGENESIS IMPERFECTA OTOPALATODIAGITAL SYNDROME PTERYGIUM SYNDROME WIEDMAN-BECKWITH SYNDROME WILLIAM'S SYNDROME APERT SYNDROME CAUDAL REGRESSION SYNDROME CHARGE ASSOCIATION CORNELIA DE LANGE SYNDROME POLYOSTOTIC FIBROUS DYSPLASIA ECTODERMAL DYSPLASIA EPIDERMOLISIS BULLOSA
Clinical Dysmorphology - UserLogin Kirk E, Ades L. Hypoplastic left heart in cerebrocostomandibular syndrome.J Med Genet (1998) 35 879.879. Fulltext Link Medline Link Context Link http://www.clindysmorphol.com/pt/re/mcd/fulltext.00019605-200107000-00013.htm
Clinical Dysmorphology - UserLogin cerebrocostomandibular syndrome in four sibs, two pairs of twins. J Med Genet28704707. Medline Link Context Link. Duval A, Boute O, Devisme L, http://www.clindysmorphol.com/pt/re/mcd/fulltext.00019605-200301000-00012.htm
Skeleton - DIAGNOSIS OF FETAL ABNORMALITIES - THE 18-23 WEEKS SCAN found in shortrib polydactyly syndrome (type I, type II), thanatophoricdysplasia, cerebrocostomandibular syndrome, cleidocranial dysostosis syndrome, http://www.centrus.com.br/DiplomaFMF/SeriesFMF/18-23-weeks/chapter-09/skeleton.h
Extractions: Normal Sonography Anatomy Limb buds are first seen by ultrasound at about the 8th week of gestation; the femur and humerus are seen from 9 weeks, the tibia/fibula and radius/ulna from 10 weeks and the digits of the hands and the feet from 11 weeks. All long bones are consistently seen from 11 weeks. Body movements (wiggling) are seen at 9 weeks and, by 11 weeks, limbs move about readily. The lengths of the humerus, radius/ulna, femur and tibia/fibula are similar and increase linearly with gestation. At the 1823-week scan, the three segments of each extremity should be visualized, but it is only necessary to measure the length of one femur. The relationship of leg and foot should also be assessed to rule out clubfoot. Clubfoot - 2D Ultrasound Clubfoot - 3D Ultrasound (rendering mode) SKELETAL ANOMALIES Prevalence Skeletal dysplasia is found in about 1 per 4000 births; about 25% of affected fetuses are stillborn and about 30% die in the neonatal period. The birth prevalences of the most common dysplasias are shown in the Table on the next page.
Links: - Alabama Council For Developmental Disabilities Kindler Syndrome An article and case study of this rare disease. Botulism Celiac cerebrocostomandibular syndrome Charcot-Marie-Tooth Disease http://www.acdd.org/Links/conditions/Rare_Disorders.htm
Extractions: On this page: Cherubs - A non-profit support group for the families and medical care providers of children and adults born with Congenital Diaphragmatic Hernia. Contact a Family - Information about this organization as well as the CaF directory of specific conditions and rare disorders. Also details about the Rare Disorders Alliance - UK. Fibrous Dysplasia Support Online - For those seeking support and information concerning the rare bone diseases: fibrous dysplasia, McCune Albright Syndrome and Cherubism. Human Growth Foundation - Information about growth-related disorders through education, research, and advocacy. Member driven organization. International Rare Disease Support Network - A community providing more than a 1000 different links to support groups for the people of all nations. Kindler Syndrome - An article and case study of this rare disease. Includes links. National Organization for Rare Disorders, Inc.
Links: - Alabama Council For Developmental Disabilities Includes nutritional links to disorders such as Down syndrome, cerebral palsy and Celiac cerebrocostomandibular syndrome CharcotMarie-Tooth Disease http://www.acdd.org/Links/conditions/Genetic_Disorders.htm
Extractions: On this page: Dr. Greene's HouseCalls - A discussion of medical information on trisomy, trisomy 13, genetics, and his own personal family experience with this rare disease. Gene Clinics - Medical genetics knowledge base. NIH funded, expert-authored descriptions of inherited disorders. Covers genetic testing in diagnosis and management and genetic counseling of patients. Genetic and Rare Conditions Site - Lay advocacy groups, support groups, information on genetic conditions and birth defects for professionals, educators and individuals. Disorders from A-Z. Genetic Disorders: The Links to Diet - Explores the role of diet in birth defects and genetic disorders. Includes nutritional links to disorders such as Down syndrome, cerebral palsy and homocystinuria and cystic fibrosis. Primary Ciliary Dyskinesia - Information on a rare congenital disease.
Entrez PubMed Three children with the cerebrocostomandibular syndrome have been studied.They were from unrelated http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=8
Entrez PubMed cerebrocostomandibular syndrome is a potentially lethal developmental disordercharacterized by ment http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=1
Disabled World Directory Rare Disorders Syndrome Alstr¶m Syndrome Barth Syndrome cerebrocostomandibular syndrome Kindler Syndrome An article and case study of this rare disease. http://www.disabled-world.com/health-directory/directory/Conditions_Diseases/Rar
Extractions: 100050 : AARSKOG SYNDROME 100070 : ABDOMINAL AORTIC ANEURYSM 100100 : ABDOMINAL MUSCLES, ABSENCE OF, WITH URINARY TRACT ABNORMALITY AND CRYPTORCHIDISM 100200 : ABDUCENS PALSY 100675 : ACETAMINOPHEN METABOLISM 100680 : ACETYLCHOLINESTERASE EXPRESSION; ACEE 100700 : ACHARD SYNDROME 101120 : ACROCEPHALOPOLYSYNDACTYLY TYPE III 101805 : ACROFACIAL DYSOSTOSIS, CATANIA TYPE 101840 : ACROKERATODERMA, HEREDITARY PAPULOTRANSLUCENT 102000 : ACROLEUKOPATHY, SYMMETRIC 102370 : ACROMICRIC DYSPLASIA 102400 : ACROOSTEOLYSIS 102490 : ACRORENOOCULAR SYNDROME 102520 : ACRORENAL SYNDROME 102530 : ACROSOME MALFORMATION OF SPERMATOZOA 102590 : ACYLASE, COBALT-ACTIVATED 102650 : ADACTYLIA, UNILATERAL 102660 : ADAMANTINOMA OF LONG BONES 102699 : ADENO-ASSOCIATED VIRUS INTEGRATION SITE 1; AAVS1 102710 : ADENOSINE DEAMINASE COMPLEXING PROTEIN 1; ADCP1 102730 : ADENOSINE DEAMINASE, ELEVATED, HEMOLYTIC ANEMIA DUE TO 102920 : ADENOVIRUS-12 CHROMOSOME MODIFICATION SITE 1A; A12M2 102930 : ADENOVIRUS-12 CHROMOSOME MODIFICATION SITE 1C; A12M1 102940 : ADENOVIRUS-12 CHROMOSOME MODIFICATION SITE 1B; A12M3 102970 : ADENOVIRUS-12 CHROMOSOME MODIFICATION SITE 17; A12M4 102990 : ADENYLATE KINASE, MUSCLE, DEFICIENCY OF 103100 : ADIE SYNDROME 103200 : ADIPOSIS DOLOROSA 103230 : ADRENOCORTICAL HYPOFUNCTION, CHRONIC PRIMARY CONGENITAL 103285 : ADULT SYNDROME 103300 : AGLOSSIA-ADACTYLIA 103400 : AINHUM 103581 : ALBRIGHT HEREDITARY OSTEODYSTROPHY 2; AHO2 103780 : ALCOHOLISM 103920 : ALLERGIC BRONCHOPULMONARY ASPERGILLOSIS 104000 : ALOPECIA AREATA 104100 : ALOPECIA CONGENITA WITH KERATOSIS PALMOPLANTARIS 104110 : ALOPECIA, FAMILIAL FOCAL 104290 : ALTERNATING HEMIPLEGIA OF CHILDHOOD 104350 : AMASTIA, BILATERAL, WITH URETERAL TRIPLICATION AND DYSMORPHISM 104400 : AMELIA AND TERMINAL TRANSVERSE HEMIMELIA 104510 : AMELOGENESIS IMPERFECTA, HYPOMATURATION-HYPOPLASIA TYPE, WITH TAURODONTISM 104600 : AMENORRHEA-GALACTORRHEA SYNDROME 105300 : AMYOTROPHIC DYSTONIC PARAPLEGIA 105500 : AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM/DEMENTIA COMPLEX OF GUAM 105550 : AMYOTROPHIC LATERAL SCLEROSIS WITH DEMENTIA 105563 : ANAL SPHINCTER DYSPLASIA; ASDP 105565 : ANAL SPHINCTER MYOPATHY, INTERNAL 105570 : ANDROSTENONE, ABILITY TO SMELL 105580 : ANAL CANAL CARCINOMA 105805 : ANEURYSM OF INTERVENTRICULAR SEPTUM 105835 : ANGEL-SHAPED PHALANGOEPIPHYSEAL DYSPLASIA; ASPED 106050 : ANGIOMA SERPIGINOSUM 106160 : ANGIOTENSIN II BINDING PROTEIN 106190 : ANHIDROSIS, FAMILIAL GENERALIZED, WITH NORMAL SWEAT GLANDS 106220 : ANIRIDIA AND ABSENT PATELLA 106230 : ANIRIDIA, MICROCORNEA, AND SPONTANEOUSLY REABSORBED CATARACT 106240 : ANISOCORIA 106250 : ANKYLOBLEPHARON FILIFORME ADNATUM AND CLEFT PALATE 106260 : ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE 106280 : ANKYLOGLOSSIA 106400 : ANKYLOSING VERTEBRAL HYPEROSTOSIS WITH TYLOSIS 106500 : ANNULAR ERYTHEMA 106750 : ANONYCHIA WITH FLEXURAL PIGMENTATION 106900 : ANONYCHIA-ECTRODACTYLY 106990 : ANONYCHIA-ONYCHODYSTROPHY WITH BRACHYDACTYLY TYPE B AND ECTRODACTYLY 107000 : ANONYCHIA-ONYCHODYSTROPHY 107200 : ANOSMIA, CONGENITAL 107320 : ANTIPHOSPHOLIPID SYNDROME 107440 : ANTIVIRAL STATE REPRESSOR, REGULATOR OF; AVRR 107500 : AORTIC ARCH ANOMALY WITH PECULIAR FACIES AND MENTAL RETARDATION 107550 : AORTIC ARCH INTERRUPTION, FACIAL PALSY, AND RETINAL COLOBOMA 107601 : APLASIA CUTIS CONGENITA AND COARCTATION OF AORTA; ACCCA 107640 : APNEA, CENTRAL SLEEP 107700 : APPENDICITIS, PRONENESS TO 107760 : APOLIPOPROTEIN F; APOF 107800 : ARCUS CORNEAE 107850 : ARM FOLDING PREFERENCE 107900 : ARMS, MALFORMATION OF 107920 : AROMATIC ALPHA-KETO ACID REDUCTASE 108000 : ARTERIES, ANOMALIES OF 108010 : ARTERIOVENOUS MALFORMATIONS OF THE BRAIN 108050 : ARTERITIS, FAMILIAL GRANULOMATOUS, WITH JUVENILE POLYARTHRITIS 108100 : ARTHRITIS, SACROILIAC 108110 : ARTHROGRYPOSIS MULTIPLEX CONGENITA; AMC 108130 : ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE II 108140 : ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE II, WITH CRANIOFACIAL ABNORMALITIES 108145 : ARTHROGRYPOSIS WITH OCULOMOTOR LIMITATION AND ELECTRORETINAL ABNORMALITIES 108200 : ARTHROGRYPOSIS-LIKE HAND ANOMALY AND SENSORINEURAL DEAFNESS 108320 : ARTICHOKE, MODIFICATION OF TASTE BY 108390 : ASPARAGUS, SPECIFIC SMELL HYPERSENSITIVITY 108400 : ASPARAGUS, URINARY EXCRETION OF ODORIFEROUS COMPONENT OF 108420 : ASPERMIOGENESIS FACTOR; ASG 108450 : ASYMMETRIC SHORT STATURE SYNDROME 108700 : ATAXIA WITH FASCICULATIONS 108720 : ATELOSTEOGENESIS, TYPE I 108725 : ATHEROSCLEROSIS SUSCEPTIBILITY; ATHS 108770 : ATRIAL CARDIOMYOPATHY WITH HEART BLOCK 108950 : ATRIAL TACHYARRHYTHMIA WITH SHORT PR INTERVAL 108970 : ATRIOPEPTIDASE 108980 : ATRIOVENTRICULAR CONDUCTION TIME 109050 : AUROCEPHALOSYNDACTYLY 109120 : AXENFELD-RIEGER ANOMALY WITH PARTIALLY ABSENT EYE MUSCLES, DISTINCTIVE FACE, HYDROCEPHALY, AND SKELETAL ABNORMALITIES 109130 : AXIAL OSTEOMALACIA 109180 : BABOON M7 VIRUS INTEGRATION SITE; BEVI 109300 : BANKI SYNDROME 109350 : BARRETT ESOPHAGUS 109390 : BASAL CELL CARCINOMAS WITH MILIA AND COARSE, SPARSE HAIR 109500 : BASILAR IMPRESSION, PRIMARY 109540 : B-CELL GROWTH FACTOR; BCGF 109600 : BEETURIA 109650 : BEHCET SYNDROME 109670 : BETA-ADRENERGIC STIMULATION, RESPONSE TO; BAS 109720 : BILIARY CIRRHOSIS, PRIMARY; PBC 109730 : BICUSPID AORTIC VALVE 109740 : BIFID NOSE 109820 : BLADDER DIVERTICULUM 109900 : BLEPHAROCHALASIS AND DOUBLE LIP 110000 : BLEPHAROCHALASIS, SUPERIOR 110050 : BLEPHARONASOFACIAL MALFORMATION SYNDROME 110150 : BLEPHAROPTOSIS, MYOPIA, AND ECTOPIA LENTIS 110250 : BLOOD GROUPABO SUPPRESSOR 110310 : BLOOD GROUPABH ANTIGEN, TYPE 2 110720 : BLOOD GROUPEn 111360 : BLOOD GROUPNEWFOUNDLAND; NFLD 111620 : BLOOD GROUPRADIN ANTIGEN; Rd 112240 : BONE FRAGILITY WITH CRANIOSYNOSTOSIS, OCULAR PROPTOSIS, HYDROCEPHALUS, AND DISTINCTIVE FACIAL FEATURES 112270 : BONE PAIN, PERIODIC 112310 : BOOMERANG DYSPLASIA 112350 : BOWING OF LEGS, ANTERIOR, WITH DWARFISM 112370 : BRACHMANN-DE LANGE-LIKE FACIAL CHANGES WITH MICROCEPHALY, METATARSUS ADDUCTUS, AND DEVELOPMENTAL DELAY 112430 : BRACHYDACTYLY, LONG-THUMB TYPE 112440 : BRACHYDACTYLY, COMBINED B AND E TYPES 112450 : BRACHYDACTYLY, PREAXIAL, WITH HALLUX VARUS AND THUMB ABDUCTION 112910 : BRACHYDACTYLY, TYPE A6; BDA6 113301 : BRACHYDACTYLY, TYPE E, WITH ATRIAL SEPTAL DEFECT, TYPE II 113310 : BRACHYDACTYLY-ECTRODACTYLY WITH FIBULAR APLASIA OR HYPOPLASIA 113400 : BRACHYDACTYLY-NYSTAGMUS-CEREBELLAR ATAXIA 113450 : BRACHYDACTYLY-DISTAL SYMPHALANGISM SYNDROME 113470 : BRACHYMESOMELIA-RENAL SYNDROME 113475 : BRACHYMETATARSUS IV 113477 : BRACHYMORPHISM-ONYCHODYSPLASIA-DYSPHALANGISM SYNDROME 113480 : BRACHYTELEPHALANGY WITH CHARACTERISTIC FACIES AND KALLMANN SYNDROME 113500 : BRACHYRACHIA 113600 : BRANCHIAL CLEFT ANOMALIES 113610 : BRANCHIAL MYOCLONUS WITH SPASTIC PARAPARESIS AND CEREBELLAR ATAXIA 113670 : BREAST, UNILATERAL GIANT 113700 : BREASTS AND NIPPLES, ABSENCE OF 113960 : BUTYRYLESTERASE 1 114065 : CALCIFIC AORTIC DISEASE WITH IMMUNOLOGIC ABNORMALITIES, FAMILIAL 114078 : CALCIUM/CALMODULIN-DEPENDENT PROTEIN KINASE II-ALPHA; CAMK2A 114100 : CALCIFICATION OF BASAL GANGLIA WITH OR WITHOUT HYPOCALCEMIA 114120 : CALCINOSIS, TUMORAL 114190 : CALCITONIN GENE-RELATED PEPTIDE RECEPTOR; CGRPR 114450 : CANCER, FAMILIAL, WITH IN VITRO RADIORESISTANCE 114580 : CANDIDIASIS, FAMILIAL CHRONIC MUCOCUTANEOUS, DOMINANT TYPE 114620 : CANTU SYNDROME 114650 : CAR FACTOR DEFICIENCY 114700 : CARABELLI ANOMALY OF MAXILLARY MOLAR TEETH 114900 : CARCINOID, INTESTINAL 115000 : CARDIAC ARRHYTHMIA 115198 : CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 5 115250 : CARDIOMYOPATHY-HYPOGONADISM-COLLAGENOMA SYNDROME 115300 : CAROTENEMIA, FAMILIAL 115310 : CAROTID BODY TUMORS AND MULTIPLE EXTRAADRENAL PHEOCHROMOCYTOMAS 115400 : CARPAL DISPLACEMENT 115645 : CATARACT, ABERRANT ORAL FRENULA, AND GROWTH RETARDATION 116100 : CATARACT, MEMBRANOUS 116700 : CATARACT, TOTAL CONGENITAL; CC 116850 : CATATRICHY 116870 : CELIAC ARTERY STENOSIS FROM COMPRESSION BY MEDIAN ARCUATE LIGAMENT OF DIAPHRAGM 117300 : CEREBELLAR ATAXIA, CATARACT, DEAFNESS, AND DEMENTIA OR PSYCHOSIS 117360 : CEREBELLAR VERMIS APLASIA 117600 : CEREBRAL SARCOMA 117650 : CEREBROCOSTOMANDIBULAR SYNDROME 117850 : CERVICAL HYPERTRICHOSIS WITH UNDERLYING KYPHOSCOLIOSIS 117900 : CERVICAL RIB 118000 : CERVICAL VERTEBRAL BRIDGE 118005 : CERVICAL VERTEBRAL DYSPLASIA 118230 : CHARCOT-MARIE-TOOTH DISEASE, GUADALAJARA NEURONAL TYPE 118301 : CHARCOT-MARIE-TOOTH DISEASE WITH PTOSIS AND PARKINSONISM 118330 : CHEILITIS GLANDULARIS 118350 : CHEMODECTOMA, INTRAABDOMINAL, WITH CUTANEOUS ANGIOLIPOMAS 118420 : CHIARI MALFORMATION TYPE I 118430 : CHLORPROPAMIDE-ALCOHOL FLUSHING; CPAF 118610 : CHONDROCALCINOSIS DUE TO APATITE CRYSTAL DEPOSITION 118651 : CHONDRODYSPLASIA PUNCTATA, TIBIA-METACARPAL TYPE 118670 : CHONDRONECTIN; CHN 118750 : CHOREOATHETOSIS, FAMILIAL INVERTED 118865 : CHOROIDAL OSTEOMA, BILATERAL 118900 : CIRRHOSIS, FAMILIAL 118943 : CHYMOSIN PSEUDOGENE; CYMP 118980 : CLAVICLE, PSEUDARTHROSIS OF, CONGENITAL 119540 : CLEFT PALATE; CP 119570 : CLEFT SOFT PALATE 119580 : BLEPHAROCHEILODONTIC SYNDROME 119650 : CLEIDORHIZOMELIC SYNDROME 119800 : CLUBFOOT 119915 : CLUSTER HEADACHE, FAMILIAL 120000 : COARCTATION OF AORTA 120040 : COCHLEOSACCULAR DEGENERATION OF THE INNER EAR WITH PROGRESSIVE CATARACTS 120400 : COLOBOMA OF MACULA WITH TYPE B BRACHYDACTYLY 120430 : COLOBOMA OF OPTIC NERVE 120433 : COLOBOMA, UVEAL, WITH CLEFT LIP AND PALATE AND MENTAL RETARDATION 120440 : COLONIC VARICES WITHOUT PORTAL HYPERTENSION 120450 : COMEDONES, FAMILIAL DYSKERATOTIC 120460 : COLORECTAL CANCER-RELATED CHROMOSOME SEQUENCE-17; CRCR2; CRC17 120500 : COMMISSURAL LIP PITS 120502 : COMMISSURAL LIP PITS WITH CONGENITAL CONDUCTIVE OR MIXED DEAFNESS, PREAURICULAR SINUS, AND EXTERNAL EAR ANOMALY 121020 : CONTINUOUS MUSCLE FIBER ACTIVITY, HEREDITARY 121070 : CONTRACTURES OF FINGERS AND JAW 121270 : COPPER DEFICIENCY, FAMILIAL BENIGN 121350 : CORACOCLAVICULAR JOINT, ANOMALOUS 121450 : CORNEAL DEGENERATION, RIBBONLIKE, WITH DEAFNESS 121820 : CORNEAL DYSTROPHY, EPITHELIAL BASEMENT MEMBRANE 122430 : CORNEAL HYPESTHESIA WITH RETINAL ABNORMALITIES, SENSORINEURAL DEAFNESS, UNUSUAL FACIES, PERSISTENT DUCTUS ARTERIOSUS, AND MENTAL RETARDATION 122440 : CORNEODERMATOOSSEOUS SYNDROME 122455 : CORONARY ARTERY DISSECTION, SPONTANEOUS 122470 : CORNELIA DE LANGE SYNDROME 1; CDL1 122550 : CORTICOSTERONE SIDE-CHAIN ISOMERASE; CSCI 122580 : COSTOCORACOID LIGAMENT, CONGENITALLY SHORT 122780 : COXOAURICULAR SYNDROME 122850 : CRANIOACROFACIAL SYNDROME 122860 : CRANIODIAPHYSEAL DYSPLASIA, DOMINANT 122900 : CRANIOFACIAL DYSOSTOSIS WITH DIAPHYSEAL HYPERPLASIA 122920 : CRANIOFRONTAL DYSPLASIA 123050 : CRANIORHINY 123155 : CRANIOSYNOSTOSIS, SAGITTAL, WITH DANDY-WALKER MALFORMATION AND HYDROCEPHALUS 123270 : CREATINE KINASE, BRAIN TYPE, ECTOPIC EXPRESSION OF; CKBE 123320 : CREATINE PHOSPHOKINASE, ELEVATED SERUM 123540 : CRYOFIBRINOGENEMIA, FAMILIAL PRIMARY 123557 : CRYPTOTIA, FAMILIAL 123560 : CRYPTOMICROTIA-BRACHYDACTYLY SYNDROME 123853 : CYPRUS FACIAL NEUROMUSCULOSKELETAL SYNDROME 123880 : CYSTIC ANGIOMATOSIS OF BONE, DIFFUSE 124000 : CYTOCHROME-RELATED DISEASE OF MUSCLE AND NERVOUS SYSTEM 124100 : DANUBIAN ENDEMIC FAMILIAL NEPHROPATHY 124300 : DARWINIAN POINT OF PINNA 124400 : DARWINIAN TUBERCLE OF PINNA 124490 : DEAFNESS, CONDUCTIVE STAPEDIAL, WITH EAR MALFORMATION AND FACIAL PALSY 124580 : DEAFNESS, DOMINANT CONGENITAL SEVERE SENSORINEURAL 124910 : DEAFNESS: LOW-FREQUENCY HEARING LOSS, MIXED CONDUCTIVE-SENSORINEURAL TYPE 124950 : DEAFNESS, SENSORINEURAL, WITH PERIPHERAL NEUROPATHY AND ARTERIAL DISEASE 125000 : DEAFNESS, UNILATERAL 125050 : DEAFNESS WITH ANHIDROTIC ECTODERMAL DYSPLASIA 125100 : DEAFNESS WITH EAR PITS 125230 : DEAFNESS-CRANIOFACIAL SYNDROME 125250 : DEAFNESSOPTIC ATROPHY SYNDROME 125280 : DENS EVAGINATUS 125300 : DENS IN DENTE AND PALATAL INVAGINATIONS 125320 : DEMENTIA/PARKINSONISM WITH NON-ALZHEIMER AMYLOID PLAQUES 125350 : DENTAL NONERUPTION 125460 : DEOXYRIBOSE-5-PHOSPHATE ALDOLASE DEFICIENCY 125500 : DENTINOGENESIS IMPERFECTA, SHIELDS TYPE III 125510 : DEPRESSIVE DISEASE, PURE 125530 : DERMAL RIDGES, NELSON SYNDROME 125570 : DERMATOGLYPHICSARCH ON ANY DIGIT 125580 : DERMATOGLYPHICSFINGER RIDGE COUNT 125590 : DERMATOGLYPHICSFINGERPRINT PATTERN 125595 : DERMATOPATHIA PIGMENTOSA RETICULARIS; DPR 125600 : DERMATOSIS PAPULOSA NIGRA 125630 : DERMODISTORTIVE URTICARIA; DDU 125635 : DERMOGRAPHISM, FAMILIAL 125640 : DERMOODONTODYSPLASIA 125890 : DIARRHEA, GLUCOSE-STIMULATED SECRETORY, WITH COMMON VARIABLE IMMUNODEFICIENCY 125900 : DIASTEMA, DENTAL MEDIAL 126100 : DIMPLES, FACIAL 126180 : DISCRIMINATION, TWO-POINT, REDUCTION IN 126190 : DISPROPORTIONATE SHORT STATURE WITH PTOSIS AND VALVULAR HEART LESIONS 126200 : MULTIPLE SCLEROSIS; MS 126250 : DISTAL OSTEOSCLEROSIS 126320 : DISTICHIASIS WITH CONGENITAL ANOMALIES OF THE HEART AND PERIPHERAL VASCULATURE 126370 : DNA, SATELLITE, III; HS3; D1Z1 126390 : DNA, LOW-REPETITIVE SEQUENCES OF 126410 : DNA, SATELLITE, ALPHA TYPE 126440 : DNA G-T MISMATCH REPAIR PROTEIN p200 126448 : DOPAMINE RECEPTOR D1B 126500 : DOUBLE NAIL FOR FIFTH TOE 126550 : DOUGHNUT LESIONS OF SKULL, FAMILIAL 126700 : DRUSEN OF BRUCH MEMBRANE 126830 : DUCK-BILL LIPS AND PTOSIS 126840 : DUODENAL ULCER DUE TO ANTRAL G-CELL HYPERFUNCTION 126950 : DWARFISM WITH TALL VERTEBRAE 127100 : DWARFISM, LEVI TYPE 127200 : DWARFISM WITH STIFF JOINTS AND OCULAR ABNORMALITIES 127350 : DYSCHONDROSTEOSIS AND NEPHRITIS 127500 : DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 127550 : DYSKERATOSIS CONGENITA, SCOGGINS TYPE 127750 : LEWY BODY DEMENTIA 127800 : DYSPLASIA EPIPHYSEALIS HEMIMELICA 127820 : DYSPLASIA EPIPHYSEALIS HEMIMELICA WITH CHONDROMAS AND OSTEOCHONDROMAS 128290 : EAR ANTITRAGUS, TAG AT BASE OF 128300 : EAR EXOSTOSES 128400 : EAR FLARE 128500 : EAR FOLDING 128710 : EAR PITS, POSTERIOR HELICAL 128800 : EAR WITHOUT HELIX 128900 : EARLOBE ATTACHMENT: ATTACHED VS UNATTACHED 128950 : EARLOBE CREASE 129000 : EARRING HOLES, NATURAL 129100 : EARS, ABILITY TO MOVE 129510 : ECTODERMAL DYSPLASIA, TRICHOODONTOONYCHIAL TYPE 129540 : ECTODERMAL DYSPLASIA SYNDROME WITH DISTINCTIVE FACIAL APPEARANCE AND PREAXIAL POLYDACTYLY OF FEET 129550 : ECTODERMAL DYSPLASIA WITH ADRENAL CYST 129810 : ECTRODACTYLY AND ECTODERMAL DYSPLASIA WITHOUT CLEFT LIP/PALATE 129830 : ECTRODACTYLY-CLEFT PALATE SYNDROME 129840 : EDEMA, FAMILIAL IDIOPATHIC, PREPUBERTAL 129850 : EDINBURGH MALFORMATION SYNDROME 129905 : EGASYN 130020 : EHLERS-DANLOS SYNDROME, TYPE III 130070 : EHLERS-DANLOS SYNDROME, PROGEROID FORM 130090 : EHLERS-DANLOS SYNDROME, AUTOSOMAL DOMINANT, TYPE UNSPECIFIED 130100 : ELASTOSIS PERFORANS SERPIGINOSA; EPS 130200 : ELECTROENCEPHALOGRAPHIC PECULIARITY: 14 AND 6 PER SEC. POSITIVE SPIKE PHENOMENON 130300 : ELECTROENCEPHALOGRAPHIC PECULIARITY: FRONTO-PRECENTRAL BETA WAVE GROUPS 130400 : ELECTROENCEPHALOGRAPHIC PECULIARITY: OCCIPITAL SLOW BETA WAVES 130700 : EMPHYSEMA 130710 : EMPHYSEMA, CONGENITAL LOBAR; CLE 130720 : EMPTY SELLA TURCICA, PRIMARY, WITH GENERALIZED DYSPLASIA 130900 : ENAMEL HYPOPLASIA, HEREDITARY LOCALIZED 130950 : ENCEPHALOPATHY, RECURRENT, OF CHILDHOOD 131200 : ENDOMETRIOSIS 131375 : ENOLASE, SPERM SPECIFIC; ENO4 131430 : EOSINOPHILOPENIA 131440 : EOSINOPHILS, MALIGNANT PROLIFERATION OF 131445 : EPENDYMOMA, FAMILIAL 131450 : EPIBLEPHARON OF LOWER LID 131460 : EPIBLEPHARON OF UPPER LID 131600 : EPIDERMOID CYSTS 131880 : EPIDERMOLYSIS BULLOSA WITH DEFICIENCY OF GALACTOSYLHYDROXYLYSYL GLUCOSYLTRANSFERASE 132090 : EPILEPSY, BENIGN OCCIPITAL; BOE 132100 : EPILEPSY, PHOTOGENIC 132300 : EPILEPSY, READING 132500 : EPISTAXIS, HEREDITARY 132600 : EPITHELIOMA CALCIFICANS OF MALHERBE 132850 : EPSTEIN-BARR VIRUS INSERTION SITE 1; EBVS1 132860 : EPSTEIN-BARR VIRUS MODIFICATION SITE 1; EBVM1 132990 : ERYTHEMA NODOSUM, FAMILIAL 133020 : ERYTHERMALGIA, FAMILIAL PRIMARY 133180 : ERYTHROLEUKEMIA, FAMILIAL 133239 : ESOPHAGEAL CANCER 133240 : ESOPHAGEAL RING, LOWER 133260 : ESTERASE B; ESB 133270 : ESTERASE C; ESC 133300 : ESTERASE ES-2, REGULATOR FOR 133600 : EXOSTOSES OF HEEL 133690 : EXOSTOSES WITH ANETODERMIA AND BRACHYDACTYLY, TYPE E 133705 : EXTERNAL AUDITORY CANAL, BILATERAL ATRESIA OF, WITH CONGENITAL VERTICAL TALUS 133750 : EXTRASYSTOLES, MULTIFORM VENTRICULAR, WITH SHORT STATURE, HYPERPIGMENTATION AND MICROCEPHALY 133800 : EYEBROW, WHORL IN 133900 : FACIAL ASYMMETRY 134000 : FACIAL HYPERTRICHOSIS 134100 : FACIAL PALSY, CONGENITAL UNILATERAL OR BILATERAL 134300 : FACIAL SPASM 134400 : FACTOR V EXCESS WITH SPONTANEOUS THROMBOSIS 134430 : FACTOR VII AND FACTOR VIII, COMBINED DEFICIENCY OF 134500 : FACTOR VIII DEFICIENCY 134510 : FACTOR VIII AND FACTOR IX, COMBINED DEFICIENCY OF 134520 : FACTORS VIII, IX AND XI, COMBINED DEFICIENCY OF 134530 : FACTOR X, QUANTITATIVE VARIATION IN 134540 : FACTOR IX AND FACTOR XI, COMBINED DEFICIENCY OF 134632 : FARNESYL DIPHOSPHATE SYNTHASE-LIKE 2; FDPSL2 134633 : FARNESYLPYROPHOSPHATE SYNTHETASE 3; FPSL3 134634 : FARNESYLPYROPHOSPHATE SYNTHETASE 4; FPSL4 134700 : FAVISM, SUSCEPTIBILITY TO 134720 : FECUNDITY GENE, BOOROOLA, OF SHEEP, HOMOLOG OF; FECB 134750 : FELTY SYNDROME 134780 : FEMORAL-FACIAL SYNDROME; FFS 134900 : FIBRINOLYTIC DEFECT 135150 : FIBROFOLLICULOMAS WITH TRICHODISCOMAS AND ACROCHORDONS 135400 : FIBROMATOSIS, GINGIVAL, WITH HYPERTRICHOSIS 135580 : FIBROMUSCULAR DYSPLASIA OF ARTERIES 135610 : FIBRONECTIN-LIKE 2; FNL2 135750 : FIBULA AND ULNA, DUPLICATION OF, WITH ABSENCE OF TIBIA AND RADIUS 135800 : FIBULA, RECURRENT DISLOCATION OF HEAD OF 135900 : FIFTH DIGIT SYNDROME 135950 : FINGER LOCKING, RECURRENT, WITH INTRAUTERINE GROWTH RETARDATION AND PROPORTIONATE SHORT STATURE 136100 : FINGERS, RELATIVE LENGTH OF 136140 : FLOATING-HARBOR SYNDROME 136150 : FLOOD FACTOR DEFICIENCY 136200 : FLUSHING OF EARS AND SOMNOLENCE 136400 : FOCAL EPITHELIAL HYPERPLASIA OF THE ORAL MUCOSA 136470 : FOLLISTATIN 136480 : FOURTH CRANIAL NERVE PALSY, FAMILIAL CONGENITAL 136600 : FRIEDREICH ATAXIA, SO-CALLED, WITH OPTIC ATROPHY AND SENSORINEURAL DEAFNESS 136750 : FRIEND MURINE LEUKEMIA VIRUS INTEGRATION SITE 1, MOUSE, HOMOLOG OF; FIM1 136760 : FRONTONASAL DYSPLASIA 136770 : FRIEND MURINE LEUKEMIA VIRUS INTEGRATION SITE 3, MOUSE, HOMOLOG OF; FIM3 136830 : FUCOSIDASE REGULATOR 137000 : FUTCHER LINE 137030 : GALACTOSE + ACTIVATOR; GLAT 137040 : GALLBLADDER, AGENESIS OF 137050 : GAMMA-A-GLOBULIN, DEFECT IN ASSEMBLY OF 137130 : GASTRIC SNEEZING 137200 : GAMSTORP-WOHLFART SYNDROME 137210 : GASTRIC VOLVULUS, INTRATHORACIC 137220 : GASTRIC JUICE PEPTIDES 137245 : GASTRIC LYMPHOMA, PRIMARY 137270 : GASTROCUTANEOUS SYNDROME 137280 : GASTRITIS, FAMILIAL GIANT HYPERTROPHIC 137360 : GENOCHONDROMATOSIS 137370 : GENU VALGUM, ST. HELENA FAMILIAL 137400 : GEOGRAPHIC TONGUE AND FISSURED TONGUE 137550 : GIANT PIGMENTED HAIRY NEVUS; GPHN 137560 : GIANT PLATELET SYNDROME WITH THROMBOCYTOPENIA 137575 : GIGANTIFORM CEMENTOMA, FAMILIAL 137700 : GLAUCOMA WITH ELEVATED EPISCLERAL VENOUS PRESSURE 137763 : GLAUCOMA AND SLEEP APNEA 137765 : GLAUCOMA-LENS ECTOPIA-MICROSPHEROPHAKIA-STIFFNESS-SHORTNESS SYNDROME; GEMSS 137900 : GLOBULIN ANOMALY INVOLVING BETA (2A)-GLOBULIN 137920 : GLOMERULOCYSTIC KIDNEY DISEASE, FAMILIAL; GCKD 137940 : GLOMERULONEPHRITIS WITH SPARSE HAIR AND TELANGIECTASES 137950 : GLOMERULOPATHY WITH GIANT FIBRILLAR DEPOSITS 138070 : GLUCOGLYCINURIA 138110 : GLUCOSE-6-PHOSPHATE DEHYDROGENASE-LIKE; G6PDL 138210 : GLUTAMATE-PYRUVATE TRANSAMINASE, MITOCHONDRIAL; GPT2 138277 : GLUTAMIC ACID DECARBOXYLASE, BRAIN, MEMBRANE FORM 138340 : GLUTATHIONE TRANSFERASE ACTIVITY TOWARD TRANS-STILBENE OXIDE 138391 : GLUTATHIONE S-TRANSFERASE 6 138500 : GLYCINURIA WITH OR WITHOUT OXALATE UROLITHIASIS 138710 : GLYCOPROTEIN, RENAL 138770 : GMS SYNDROME 138790 : GOITER, MULTINODULAR, CYSTIC RENAL DISEASE AND DIGITAL ANOMALIES 138900 : GOUT 138920 : GRANDDAD SYNDROME 138930 : GRANT SYNDROME 138972 : GRANULOCYTE COLONY-STIMULATING FACTOR PROMOTER ELEMENT-1, BINDING PROTEIN FOR; GPE1BP 138990 : GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL DOMINANT TYPE 139000 : GRANULOSIS RUBRA NASI 139210 : GROWTH-MENTAL DEFICIENCY SYNDROME OF MYHRE 139260 : GUANASE 139280 : GUANYLATE KINASE 2; GUK2 139300 : GYNECOMASTIA, HEREDITARY 139393 : GUILLAIN-BARRE SYNDROME, FAMILIAL 139395 : GUSTDUCIN, ALPHA POLYPEPTIDE 139400 : HAIR WHORL 139450 : HAIR, CURLY 139500 : HAIRY EARS 139600 : HAIRY ELBOWS 139630 : HAIRY NOSE TIP 139750 : HAND AND FOOT DEFORMITY WITH FLAT FACIES 139800 : HAND CLASPING PATTERN 139900 : HANDEDNESS 140300 : HASHIMOTO STRUMA 140450 : HEART-HAND SYNDROME, SPANISH TYPE 140500 : HEART, MALFORMATION OF 140600 : HEBERDEN NODES 140850 : HEMANGIOMAS, CAVERNOUS, OF FACE AND SUPRAUMBILICAL MIDLINE RAPHE 140900 : HEMANGIOMAS OF SMALL INTESTINE 141000 : HEMANGIOMA-THROMBOCYTOPENIA SYNDROME 141300 : HEMIFACIAL ATROPHY, PROGRESSIVE; HFA 141400 : HEMIFACIAL MICROSOMIA WITH RADIAL DEFECTS 141405 : HEMIFACIAL SPASM, FAMILIAL 141700 : HEMOLYTIC POIKILOCYTIC ANEMIA DUE TO REDUCED ANKYRIN BINDING SITES 142270 : HEMOGLOBINGAMMA, REGULATOR OF; HBGR 142330 : HEPATIC ADENOMAS, FAMILIAL 142333 : HEPATITIS B VIRUS INTEGRATION SITE 7; HVBS7 142340 : HERNIA, DIAPHRAGMATIC 142350 : HERNIA, DOUBLE INGUINAL 142395 : HEPATITIS B VACCINE, RESPONSE TO 142400 : HERNIA, HIATUS 142420 : HERPES SIMPLEX VIRUS-1 INTEGRATION SITE 142500 : HETEROCHROMIA IRIDIS 142550 : HEXOKINASE OF SPERMATOZOA 142625 : HIRSUTISMSKELETAL DYSPLASIAMENTAL RETARDATION SYNDROME 142630 : HISTIOCYTOSIS, PROGRESSIVE MUCINOUS 142690 : HIDRADENITIS SUPPURATIVA, FAMILIAL 142700 : HIP, DISLOCATION OF, CONGENITAL 142730 : HISTIOCYTIC DERMATOARTHRITIS 142770 : HLA MODIFIER 142925 : MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS I, H PSEUDOGENE; HLAHP 142954 : HOMEO BOX 1E; HOX1E 142990 : HOMEO BOX X 143050 : HUMERORADIAL SYNOSTOSIS 143095 : HUMEROSPINAL DYSOSTOSIS 143150 : H-Y ANTIGEN RECEPTOR 143460 : 5-@HYDROXYTRYPTAMINE OXYGENASE REGULATOR; HTOR 143470 : HYPERALPHALIPOPROTEINEMIA 143860 : HYPERCHLORHIDROSIS, ISOLATED 143880 : HYPERCALCEMIA, IDIOPATHIC, OF INFANCY 144020 : HYPERCHOLESTEROLEMIA SUPPRESSOR 144050 : HYPERHEPARINEMIA 144100 : HYPERHIDROSIS, GUSTATORY 144110 : HYPERHIDROSIS PALMARIS ET PLANTARIS 144120 : HYPERIMMUNOGLOBULIN G1(A1) SYNDROME 144190 : HYPERKERATOSIS-HYPERPIGMENTATION SYNDROME 144300 : HYPERLIPOPROTEINEMIA, TYPE II, AND DEAFNESS 144600 : HYPERLIPOPROTEINEMIA, TYPE IV 144650 : HYPERLIPOPROTEINEMIA, TYPE V 144755 : HYPEROSTOSIS CRANIALIS INTERNA 144800 : HYPEROSTOSIS FRONTALIS INTERNA 145200 : HYPERPIGMENTATION OF FULDAUER AND KUIJPERS 145270 : HYPERPROGLUCAGONEMIA 145290 : HYPERREFLEXIA; HRX 145295 : HYPERSECRETION OF ADRENAL ANDROGENS, FAMILIAL 145300 : HYPERSENSITIVITY PNEUMONITIS, FAMILIAL 145350 : HYPERTAURINURIC CARDIOMYOPATHY 145590 : HYPERTHERMIA, CUTANEOUS, WITH HEADACHES AND NAUSEA 146110 : HYPOGONADISM, ISOLATED HYPOGONADOTROPIC 146160 : HYPOMELIA WITH MULLERIAN DUCT ANOMALIES 146350 : HYPOPHOSPHATEMIC BONE DISEASE; HBD 146390 : HYPOPITUITARISM ASSOCIATED WITH 18p- SYNDROME 146400 : HYPOPLASIA OF TEETH ROOTS 146450 : HYPOSPADIAS 146500 : HYPOTENSION, ORTHOSTATIC 146580 : HYPOXANTHINE GUANINE PHOSPHORIBOSYLTRANSFERASE SUPPRESSOR 146600 : ICHTHYOSIS HYSTRIX GRAVIOR 146692 : INOSINE MONOPHOSPHATE DEHYDROGENASE-LIKE 1; IMPDHL1 146720 : ICHTHYOSISCHEEKEYEBROW SYNDROME 146750 : ICHTHYOSIS, LAMELLAR, AUTOSOMAL DOMINANT FORM 146830 : IMMUNE DEFICIENCY, FAMILIAL VARIABLE 146840 : IMMUNODEFICIENCY WITH DEFECTIVE LEUKOCYTE AND LYMPHOCYTE FUNCTION AND WITH RESPONSE TO HISTAMINE-1 ANTAGONIST 146850 : IMMUNE SUPPRESSION; IS 146990 : IMMUNOGLOBULIN HEAVY CHAIN DIVERSITY REGION 2; IGHDY2 147060 : IMMUNOGLOBULIN E, ELEVATED, WITH NEUTROPHIL CHEMOTAXIS DEFECT, RECURRENT INFECTIONS, AND MUCOCUTANEOUS CANDIDIASIS 147250 : INCISORS, FUSED 147251 : INCISORS, FUSED MANDIBULAR 147260 : IMMUNOGLOBULIN SWITCH SEQUENCES 147300 : INCISORS, LONG UPPER CENTRAL 147320 : INSULIN RECEPTORS, FAMILIAL INCREASE IN 147330 : INCISORS, LOWER CENTRAL, ABSENCE OF 147350 : INCISORS, ROTATION OF UPPER CENTRAL 147400 : INCISORS, SHOVEL-SHAPED 147421 : INCLUSION BODY MYOSITIS 147430 : INDIFFERENCE TO PAIN 147530 : INSENSITIVITY TO PAIN WITH HYPERPLASTIC MYELINOPATHY 147540 : INSECT STINGS, HYPERSENSITIVITY TO 147560 : INTERFERON ANTIVIRAL DEPRESSOR 147590 : IRIS DYSPLASIA WITH OCULAR HYPERTELORISM, PSYCHOMOTOR RETARDATION AND SENSORINEURAL DEAFNESS 147610 : IRIS PIGMENT LAYER, CLEAVAGE OF 147630 : ISLET CELL ADENOMATOSIS 147710 : INTUSSUSCEPTION 147770 : JOHNSON NEUROECTODERMAL SYNDROME 147820 : INTERNAL CAROTID ARTERY, SPONTANEOUS DISSECTION OF 147920 : KABUKI SYNDROME 148000 : KAPOSI SARCOMA 148100 : KELOIDS 148210 : KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL DOMINANT 148300 : KERATOCONUS 148360 : KERATODERMA, PALMOPLANTAR, WITH NAIL DYSTROPHY AND HEREDITARY MOTOR-SENSORY NEUROPATHY 148390 : KERATOSES, FAMILIAL ACTINIC 148520 : KERATOSIS PALMARIS ET PLANTARIS WITH CLINODACTYLY 148800 : KLEEBLATTSCHAEDEL SYNDROME 148840 : KLEINE-LEVIN HIBERNATION SYNDROME 148860 : KLIPPEL-FEIL DEFORMITY, CONDUCTIVE DEAFNESS, AND ABSENT VAGINA 148870 : KLIPPEL-FEIL DEFORMITY, DEAFNESS, AND FACIAL ASYMMETRY 149000 : KLIPPEL-TRENAUNAY-WEBER SYNDROME 149100 : KNUCKLE PADS 149500 : KYRLE DISEASE 149600 : LABIA MINORA, INCOMPLETE ADHESION OF 150160 : LACTATE DEHYDROGENASE-K; LDHK 150170 : LACTIC ACIDOSIS, CHRONIC ADULT FORM 150220 : LACTOSE INTOLERANCE, CONGENITAL 150280 : LARYNGOMALACIA 150300 : LARYNX, CONGENITAL PARTIAL ATRESIA OF 150360 : LARYNGEAL WEB, FAMILIAL 150500 : LATTICE DEGENERATION OF RETINA LEADING TO RETINAL DETACHMENT 150550 : LAZY LEUKOCYTE SYNDROME 150590 : LEG ULCERS, FAMILIAL, OF JUVENILE ONSET 150600 : LEGG-CALVE-PERTHES DISEASE 150700 : LEIOMYOMA OF VULVA AND ESOPHAGUS 150900 : LENTIGINES 151000 : LENTIGINOSIS, CENTROFACIAL NEURODYSRAPHIC 151001 : LENTIGINOSIS, INHERITED PATTERNED 151050 : LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM 151380 : LEUKEMIA, ACUTE MONOCYTIC 151500 : LEUKOCYTE NUCLEAR APPENDAGES, HEREDITARY PREVALENCE OF 151550 : LEUKONYCHIA MACULATA 151590 : LICHEN SCLEROSUS ET ATROPHICUS; LSA 151610 : LEVATOR-MEDIAL RECTUS SYNKINESIS 151620 : LICHEN PLANUS, FAMILIAL 151640 : LIP, HAMARTOMATOUS 151680 : LIPODYSTROPHY, PARTIAL, WITH RIEGER ANOMALY, SHORT STATURE, AND INSULINOPENIC DIABETES MELLITUS 151700 : LIPOMA OF THE CONJUNCTIVA 151800 : LIPOMATOSIS, FAMILIAL BENIGN CERVICAL 152300 : LIPOPROTEIN TYPESLt SYSTEM 152400 : LIPOPROTEIN, VARIANT OF BETA 152420 : LITHIUM TRANSPORT 152423 : LIVER CELL ADHESION MOLECULE; LCAM 152430 : LONGEVITY 152450 : LOW DENSITY LIPOPROTEIN, VARIATION IN MOLECULAR WEIGHT 152550 : LUMBAR STENOSIS, FAMILIAL 152600 : LUNULAE OF FINGERNAILS 152900 : LYMPHEDEMA AND CEREBRAL ARTERIOVENOUS ANOMALY 153000 : LYMPHEDEMA AND PTOSIS 153300 : LYMPHEDEMA, ADULT-ONSET, AND YELLOW NAILS 153360 : LYSOSOMAL GLYCOGEN STORAGE DISEASE WITH NORMAL ACID MALTASE ACTIVITY 153460 : MCARDLE SYNDROME 153470 : MACROCEPHALY, BENIGN FAMILIAL 153600 : MACROGLOBULINEMIA, WALDENSTROM; WM 153650 : MACROTHROMBOCYTOPATHY, NEPHRITIS, AND DEAFNESS 153670 : MACROTHROMBOCYTOPENIA, BENIGN MEDITERRANEAN 153870 : MACULAR DYSTROPHY, CONCENTRIC ANNULAR 153890 : MACULAR DYSTROPHY, FENESTRATED SHEEN TYPE 154000 : MACULES, HEREDITARY CONGENITAL HYPOPIGMENTED AND HYPERPIGMENTED 154300 : MALOCCLUSION DUE TO PROTUBERANT UPPER FRONT TEETH 154370 : MAMMASTATIN 154400 : ACROFACIAL DYSOSTOSIS 1, NAGER TYPE; AFD1 154600 : MARCUS GUNN PHENOMENON 154750 : MARFANOID HYPERMOBILITY SYNDROME 154800 : MAST CELL DISEASE 154850 : MASTICATORY MUSCLES, HYPERTROPHY OF 155140 : MECKEL DIVERTICULUM 155145 : CLEFT, MEDIAN, OF UPPER LIP WITH POLYPS OF FACIAL SKIN AND NASAL MUCOSA 155150 : MEDIAN-ULNAR NERVE COMMUNICATIONS 155200 : MEDIOSTERNAL DEPIGMENTATION LINE 155500 : MEGALODACTYLY 155700 : MELANOMA, MALIGNANT INTRAOCULAR 155720 : MELANOMA, UVEAL 155755 : MELANOMA-ASTROCYTOMA SYNDROME 155770 : MELANOMA TUMOR ANTIGEN GP90 155950 : MELORHEOSTOSIS 156000 : MENIERE DISEASE 156190 : MENTAL AND GROWTH RETARDATION WITH AMBLYOPIA 156200 : MENTAL RETARDATION, DOMINANT 156220 : MERALGIA PARAESTHETICA, FAMILIAL 156240 : MESOTHELIOMA, MALIGNANT 156250 : METACHONDROMATOSIS 156300 : METACHROMASIA OF FIBROBLASTS 156310 : METACHROMATIC LEUKODYSTROPHY, ADULT-ONSET, WITH NORMAL ARYLSULFATASE A 156510 : METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA AND BRACHYDACTYLY 156530 : METATROPIC DYSPLASIA, NONLETHAL DOMINANT 156620 : MICROCEPHALY-DEAFNESS SYNDROME 156700 : MICROCORNEA, GLAUCOMA AND ABSENT FRONTAL SINUSES 156830 : MICROMELIC BONE DYSPLASIA WITH CLOVERLEAF SKULL 156900 : MICROPHTHALMOS WITH MYOPIA AND CORECTOPIA 157100 : MICROPHTHALMOS, PIGMENTARY RETINOPATHY, AND GLAUCOMA 157150 : MICROSPHEROPHAKIA WITH HERNIA 157151 : MICROSPHEROPHAKIA-METAPHYSEAL DYSPLASIA 157160 : MICROTUBULE-ASSOCIATED PROTEIN TAU-LIKE; MAPTL 157300 : MIGRAINE 157500 : MILK PROTEINS, VARIANTS OF 157550 : MINICORE MYOPATHY, DOMINANT 157600 : MIRROR MOVEMENTS, HEREDITARY 157650 : MITOCHONDRIAL MYOPATHY, LIPID TYPE 157800 : MITRAL REGURGITATION, CONDUCTIVE DEAFNESS, AND FUSION OF CERVICAL VERTEBRAE AND OF CARPAL AND TARSAL BONES 157860 : MIXED LYMPHOCYTE CULTURE LOCUS II 157910 : MOEBIUS SYNDROME WITH CLUBFOOT, ARTHROGRYPOSIS, AND DIGITAL ANOMALIES 157960 : MOLONEY LEUKEMIA VIRUS INTEGRATION SITE 2, MOUSE, HOMOLOG OF; MLVI2 157980 : MOMO SYNDROME 158020 : MONOCLONAL ANTIBODY 4F2, ANTIGEN DEFINED BY, LIGHT CHAIN; M4F2L 158040 : MONOCLONAL ANTIBODY T87, CELL SURFACE GLYCOPROTEIN DEFINED BY; MSK2 158100 : MONOPHALANGY OF GREAT TOE 158250 : MOSAICISM, CHROMOSOMAL 158280 : MOTION SICKNESS 158330 : MULLERIAN APLASIA 158345 : MULTIPLE EXOSTOSES WITH SPASTIC TETRAPARESIS 158650 : MUSCULAR ATROPHY, MALIGNANT NEUROGENIC 158800 : MUSCULAR DYSTROPHY, BARNES TYPE 159100 : MUSCULAR HYPOPLASIA, CONGENITAL UNIVERSAL, OF KRABBE 159300 : MUSICAL PERFECT PITCH 159400 : MYASTHENIA, FAMILIAL LIMB-GIRDLE 159410 : MYDRIATIC RESPONSE TO PHARMACOLOGIC AGENTS 159420 : MYDRIASIS, CONGENITAL 159500 : MYELINATED OPTIC NERVE FIBERS 159550 : MYELOCEREBELLAR DISORDER 159580 : MYELOPATHY, HTLV-1-ASSOCIATED; HAM 159700 : MYOCLONUS AND ATAXIA 159800 : MYOCLONUS, CEREBELLAR ATAXIA, AND DEAFNESS 159950 : MYOCLONUS, HEREDITARY, WITH PROGRESSIVE DISTAL MUSCULAR ATROPHY 160200 : MYOPATHY, CONGENITAL, WITH CRYSTALLINE INTRANUCLEAR INCLUSIONS 160550 : MYOPATHY, MITOCHONDRIAL, WITH CATARACT 160570 : MYOPATHY WITH STORAGE OF GLYCOPROTEINS AND GLYCOSAMINOGLYCANS 160990 : MYOTONIC MYOPATHY WITH CYLINDRICAL SPIRALS 161070 : NAIL HIGH-SULFUR PROTEIN 161080 : NAIL LOW-SULFUR PROTEIN 161100 : NAILBEDS, PIGMENTATION OF 161400 : NARCOLEPSY 161470 : NASAL ALAR COLLAPSE, BILATERAL 161480 : NASAL BONES, ABSENCE OF 161530 : NASAL HYPERPIGMENTATION, FAMILIAL TRANSVERSE 161550 : NASOPHARYNGEAL CANCER 161600 : NAVICULAR BONE, ACCESSORY 161700 : NECROTIZING ENCEPHALOMYELOPATHY, SUBACUTE, OF ADULT 161950 : NEPHRITIS, IgA TYPE 162020 : NERVE GROWTH FACTOR, ALPHA SUBUNIT; NGFA 162091 : SCHWANNOMATOSIS 162220 : NEUROFIBROMATOSIS, FAMILIAL INTESTINAL; NF3B 162240 : NEUROFIBROMATOSIS-PHEOCHROMOCYTOMA-DUODENAL CARCINOID SYNDROME 162260 : NEUROFIBROMATOSIS, TYPE III, MIXED CENTRAL AND PERIPHERAL; NF3A 162270 : NEUROFIBROMATOSIS, TYPE IV, OF RICCARDI; NF4 162380 : NEUROPATHY, HEREDITARY SENSORIMOTOR, WITH UPPER MOTOR NEURON, VISUAL PATHWAY AND AUTONOMIC DISTURBANCE 162600 : NEUROPATHY, WITH PARAPROTEIN IN SERUM, CEREBROSPINAL FLUID AND URINE 162830 : NEUTROPHILIA, HEREDITARY 163050 : NEVUS ANEMICUS 163200 : NEVUS SEBACEUS OF JADASSOHN 163600 : NIPPLES INVERTED 163850 : NODULI CUTANEI, MULTIPLE, WITH URINARY TRACT ABNORMALITIES 163900 : NON-HEME PROTEIN OF ERYTHROCYTE 163955 : NOONAN-LIKE/MULTIPLE GIANT CELL LESION SYNDROME 164000 : NOSE, ANOMALOUS SHAPE OF 164180 : OCULOCEREBROCUTANEOUS SYNDROME 164185 : OCULAR CICATRICIAL PEMPHIGOID; OCP 164190 : OCULAR DOMINANCE 164210 : OCULOAURICULOVERTEBRAL DYSPLASIA 164220 : OCULAR HYPOTELORISM, SUBMUCOSAL CLEFT PALATE, AND HYPOSPADIAS 164230 : OBSESSIVE-COMPULSIVE DISORDER 1; OCD1 164310 : OCULOPHARYNGODISTAL MYOPATHY 164330 : ODONTOMA-DYSPHAGIA SYNDROME 164600 : OLIVOPONTOCEREBELLAR ATROPHY IV 164680 : ONYCHOGRYPOSIS, PEDAL, WITH KERATOSIS PLANTARIS AND COARSE HAIR 164745 : OMODYSPLASIA 164750 : OMPHALOCELE 164800 : ONYCHOLYSIS, PARTIAL, WITH SCLERONYCHIA 164891 : ONCOGENE YUASA 165098 : OPHTHALMOPLEGIA, FAMILIAL TOTAL, WITH IRIS TRANSILLUMINATION 165150 : OPHTHALMOPLEGIA, PROGRESSIVE, WITH SCROTAL TONGUE AND MENTAL DEFICIENCY 165199 : OPTIC ATROPHY, HEARING LOSS, AND PERIPHERAL NEUROPATHY 165200 : OPTIC ATROPHY WITH DEMYELINATING DISEASE OF CNS 165300 : OPTIC ATROPHY, CATARACT, AND NEUROLOGIC DISORDER 165490 : OPTIC ATROPHY, DEAFNESS, OPHTHALMOPLEGIA, AND MYOPATHY 165510 : OPTIC ATROPHY WITH NEGATIVE ELECTRORETINOGRAMS 165550 : OPTIC NERVE HYPOPLASIA, FAMILIAL BILATERAL 165590 : ORAL-FACIAL-DIGITAL SYNDROME WITH FIBULAR APLASIA 165600 : ORBITAL MARGIN, HYPOPLASIA OF 165630 : ORGANOID NEVUS PHAKOMATOSIS 165660 : OSLAM SYNDROME 165670 : OSSIFIED EAR CARTILAGES 165680 : OSSICULAR MALFORMATIONS, FAMILIAL 165720 : OSTEOARTHROSIS, PRECOCIOUS; OAP 166000 : OSTEOCHONDROMATOSIS 166230 : OSTEOGENESIS IMPERFECTA WITH OPALESCENT TEETH, BLUE SCLERAE AND WORMIAN BONES, BUT WITHOUT FRACTURES 166240 : OSTEOGENESIS IMPERFECTA WITH OPALESCENT TEETH 166250 : OSTEOGLOPHONIC DWARFISM 166260 : OSTEOGENESIS IMPERFECTA WITH UNUSUAL SKELETAL LESIONS 166400 : OSTEOMAS OF MANDIBLE 166450 : OSTEOMESOPYKNOSIS 166705 : OSTEOPOIKILOSIS AND DACRYOCYSTITIS 166740 : OSTEOSCLEROSIS WITH ICHTHYOSIS AND FRACTURES 166760 : OTITIS MEDIA, SUSCEPTIBILITY TO 166780 : OTOFACIOCERVICAL SYNDROME 166900 : OVALOCYTOSIS, HEREDITARY HEMOLYTIC 166910 : OVALOCYTOSIS, HEREDITARY HEMOLYTIC, WITH DEFECTIVE ERYTHROPOIESIS 166950 : OVARIAN TERATOMA 166970 : OVARIAN FIBROMATA 166990 : OSTEOCHONDRODYSPLASIA, RHIZOMELIC, WITH CALLOSAL AGENESIS, THROMBOCYTOPENIA, HYDROCEPHALUS, AND HYPERTENSION 167100 : PACHYDERMOPERIOSTOSIS; PDP 167220 : PACMAN DYSPLASIA 167250 : PAGET DISEASE OF BONE 1; PDB1 167300 : PAGET DISEASE, EXTRAMAMMARY 167320 : PAGETOID AMYOTROPHIC LATERAL SCLEROSIS 167500 : PALATOPHARYNGEAL INCOMPETENCE 167600 : PALMARIS LONGUS MUSCLE, ABSENCE OF 167700 : PALMOMENTAL REFLEX 167750 : PANCREAS, ANNULAR 167755 : PANCREAS, DORSAL, AGENESIS OF 167850 : PANCYTOPENIA AND OCCLUSIVE VASCULAR DISEASE 167870 : PANIC DISORDER 167900 : PAPILLOMATOSIS, FAMILIAL CUTANEOUS 167950 : PAPILLOMATOSIS, FLORID, OF NIPPLE 167959 : HUMAN PAPILLOMAVIRUS TYPE 18 INTEGRATION SITE 1; HPV18I1 167960 : HUMAN PAPILLOMAVIRUS TYPE 18 INTEGRATION SITE 2; HPV18I2 168100 : PARALYSIS AGITANS, JUVENILE, OF HUNT 168200 : PARAMOLAR TUBERCLE OF BOLK 168350 : PARAMYOTONIA WITHOUT COLD PARALYSIS 168400 : PARASTREMMATIC DWARFISM 168550 : PARIETAL FORAMINA WITH CLEIDOCRANIAL DYSPLASIA 168710 : PAROTID PROLINE-RICH SALIVARY PROTEIN Pc 168800 : PAROTIDOMEGALY, HEREDITARY BILATERAL 168830 : PASSOVOY FACTOR 168850 : PATELLA APLASIA, COXA VARA, AND TARSAL SYNOSTOSIS 168860 : PATELLA APLASIA OR HYPOPLASIA 168885 : PAROXYSMAL TONIC UPGAZE, BENIGN CHILDHOOD, WITH ATAXIA 169100 : PATENT DUCTUS ARTERIOSUS; PDA 169170 : PATTERSON PSEUDOLEPRECHAUNISM SYNDROME 169200 : PECHET FACTOR DEFICIENCY 169300 : PECTUS EXCAVATUM 169550 : PELVIS-SHOULDER DYSPLASIA 169610 : PEMPHIGUS VULGARIS, FAMILIAL 170600 : PERIODIC PARALYSIS III 170700 : PERIPHERAL DYSOSTOSIS 170900 : PERNICIOUS ANEMIA 170950 : PERNIOSIS 170980 : PERONEAL NERVE, ACCESSORY DEEP 170990 : PEROXIDASE, SALIVARY; SAPX 171100 : PHAGOCYTOSIS, PLASMA-RELATED DEFECT IN 171350 : PHEOCHROMOCYTOMA, FAMILIAL EXTRAADRENAL 171420 : PHEOCHROMOCYTOMAISLET CELL TUMOR SYNDROME 171450 : PHLEBECTASIA OF LIPS 171480 : PHOCOMELIA-ECTRODACTYLY, EAR MALFORMATION, DEAFNESS, AND SINUS ARRHYTHMIA 171660 : PHOSPHATASE, ACID, OF TISSUES 171700 : ALKALINE PHOSPHATASE, BLOOD GROUP-ASSOCIATED 171850 : PHOSPHOFRUCTOKINASE, RED CELL 172110 : PHOSPHOGLUCOMUTASE 4 172290 : PHOSPHOGLYCOPROTEIN 1; PGP1 172300 : PHOSPHOHEXOKINASE 172500 : PHOTOMYOCLONUS, DIABETES MELLITUS, DEAFNESS, NEPHROPATHY, AND CEREBRAL DYSFUNCTION 172850 : PIEBALD TRAIT WITH NEUROLOGIC DEFECTS 172870 : PIGMENTED PARAVENOUS CHORIORETINAL ATROPHY; PPCRA 172880 : PIERRE ROBIN SYNDROME AND OLIGODACTYLY 173000 : PILONIDAL SINUS 173340 : PLASMINOGEN-LIKE; PLGL 173395 : PLATELET ADENYLATE CYCLASE ACTIVITY 173400 : PLATELET AGGREGATION, SPONTANEOUS 173420 : PLATELET DISORDER, UNDEFINED 173450 : PLATELET FACTOR 3 DEFICIENCY 173560 : PLATELET MEMBRANE FLUIDITY; PMF 173580 : PLATELET RESPONSIVENESS TO ADRENALINE, DEPRESSED 173590 : PLATELET SIGNAL PROCESSING DEFECT 173700 : POIKILODERMA, HEREDITARY SCLEROSING 173750 : POLAND-MOEBIUS SYNDROME 173800 : POLAND SYNDROME 174100 : POLYDACTYLY, IMPERFORATE ANUS, AND VERTEBRAL ANOMALIES 174300 : POLYDACTYLY, POSTAXIAL, WITH MEDIAN CLEFT OF UPPER LIP 174310 : POLYDACTYLY, POSTAXIAL, WITH PROGRESSIVE MYOPIA 174400 : POLYDACTYLY, PREAXIAL I 174770 : POLYMORPHIC LIGHT ERUPTION, HEREDITARY; HPLE 175050 : POLYPOSIS, GENERALIZED JUVENILE, WITH PULMONARY ARTERIOVENOUS MALFORMATION 175400 : POLYPOSIS, INTESTINAL, SCATTERED AND DISCRETE 175450 : POLYPOSIS, INTESTINAL, WITH MULTIPLE EXOSTOSES 175500 : POLYPOSIS, SKIN PIGMENTATION, ALOPECIA, AND FINGERNAIL CHANGES 175505 : POLYPOSIS OF GASTRIC FUNDUS WITHOUT POLYPOSIS COLI 175510 : POLYPS, MULTIPLE AND RECURRENT INFLAMMATORY FIBROID, GASTROINTESTINAL 175750 : POPLITEAL CYST 175850 : POROKERATOSIS PLANTARIS, PALMARIS ET DISSEMINATA 176090 : PORPHYRIA CUTANEA TARDA, TYPE I 176240 : POSTAXIAL OLIGODACTYLY, TETRAMELIC 176250 : POSTERIOR COLUMN ATAXIA 176305 : PREAXIAL DEFICIENCY, POSTAXIAL POLYDACTYLY, AND HYPOSPADIAS 176440 : PREMATURE OVARIAN FAILURE AND BLEPHAROPHIMOSIS 176600 : PRESENILE DEMENTIA, KRAEPELIN TYPE 176620 : PRIAPISM, FAMILIAL IDIOPATHIC 176630 : PRIMARY RELEASE DISORDER OF PLATELETS 176670 : PROGERIA 176690 : PROGEROID SHORT STATURE WITH PIGMENTED NEVI 176780 : PROLAPSE OF VAGINA AND RECTUM 176800 : PRONATION-SUPINATION OF THE FOREARM, IMPAIRMENT OF 176900 : PROTEOLYTIC CAPACITY OF PLASMA 176920 : PROTEUS SYNDROME 177100 : PRURITUS, HEREDITARY LOCALIZED 177150 : PSEUDOACHONDROPLASTIC DYSPLASIA I 177300 : PSEUDOARTHROGRYPOSIS 177350 : PSEUDOATROPHODERMA COLLI 177600 : PSEUDOCHOLINESTERASE, INCREASE IN PLASMA LEVEL OF 177650 : PSEUDOEXFOLIATION OF THE LENS 177700 : PSEUDOGLAUCOMA 177800 : PSEUDOPAPILLEDEMA 177860 : PSEUDOXANTHOMA ELASTICUM, DOMINANT TYPE II 177980 : PTERYGIA, MENTAL RETARDATION, AND DISTINCTIVE CRANIOFACIAL FEATURES 177990 : PTERYGIUM COLLI, ISOLATED 178000 : PTERYGIUM OF CONJUNCTIVA AND CORNEA 178110 : PTERYGIUM SYNDROME, MULTIPLE, AUTOSOMAL DOMINANT TYPE 178330 : PTOSIS, STRABISMUS, AND ECTOPIC PUPILS 178370 : PULMONARY ATRESIA WITH VENTRICULAR SEPTAL DEFECT 178400 : PULMONARY EDEMA OF MOUNTAINEERS 178500 : PULMONARY FIBROSIS, IDIOPATHIC 178550 : PULMONARY HEMOSIDEROSIS 178610 : PULMONARY NODULAR LYMPHOID HYPERPLASIA, FAMILIAL 178650 : PULMONIC STENOSIS, ATRIAL SEPTAL DEFECT, AND UNIQUE ELECTROCARDIOGRAPHIC ABNORMALITIES 178651 : PULMONIC STENOSIS AND DEAFNESS 178800 : PUPIL, EGG-SHAPED 178900 : PUPILLARY MEMBRANE, PERSISTENCE OF 178995 : PRURITIC URTICARIAL PAPULES AND PLAQUES OF PREGNANCY; PUPPP 179000 : PURPURA SIMPLEX 179010 : PYLORIC STENOSIS, INFANTILE 179040 : PYRUVATE KINASE 2; PK2 179250 : RADIAL HYPOPLASIA, TRIPHALANGEAL THUMBS, HYPOSPADIAS, AND MAXILLARY DIASTEMA 179270 : RADIAL RAY HYPOPLASIA WITH CHOANAL ATRESIA 179280 : RADIAL-RENAL SYNDROME 179300 : RADIOULNAR SYNOSTOSIS 179400 : RADIUS, APLASIA OF, WITH CLEFT LIP/PALATE 179450 : RAGWEED SENSITIVITY 179500 : RAINDROP HYPOPIGMENTATION 179760 : RENAL CELL CARCINOMA 2; RCC2 179770 : RENAL CELL CARCINOMA 3; RCC3 179830 : RENAL TUBULAR ACIDOSIS, FAMILIAL PROXIMAL 179840 : RETICULAR DYSTROPHY OF RETINAL PIGMENT EPITHELIUM 179850 : RETICULAR PIGMENTED ANOMALY OF FLEXURES 180040 : RETINAL DEGENERATION 3; RD3 180060 : RETINAL FOLDS WITH MICROCEPHALY AND MICROPHTHALMOS 180070 : RETINAL NONATTACHMENT AND FALCIFORM DETACHMENT 180080 : RETINAL VENOUS BEADING 180102 : RETINITIS PIGMENTOSA 5; RP5 180210 : RETINOPATHY, PERICENTRAL PIGMENTARY, DOMINANT 180270 : RETINOSCHISIS, AUTOSOMAL DOMINANT 180300 : RHEUMATOID ARTHRITIS 180330 : RHEUMATOID FACTOR IgM IDIOTYPES 180350 : RHEUMATOID NODULOSIS 180360 : RHINY 180550 : RING DERMOID OF CORNEA 180730 : ROMBO SYNDROME 180750 : ROBINOW-SORAUF SYNDROME 180850 : RUBINSTEIN-LIKE SYNDROME 180870 : RUVALCABA SYNDROME 180930 : SALIVARY PROTEIN I; SAL-I 180940 : SALIVARY PROTEIN II; SAL-II 181000 : SARCOIDOSIS 181010 : SALIVARY DUCT CALCULI 181180 : SAY SYNDROME 181200 : SC(1) TRAIT OF SALIVA 181250 : SCALP DEFECTS AND POSTAXIAL POLYDACTYLY 181270 : SCALP-EAR-NIPPLE SYNDROME 181300 : SCAPULA, CONTOUR OF VERTEBRAL BORDER OF 181510 : SCHIZOPHRENIA 1; SCZD1 181700 : SCLEROCORNEA 181800 : SCOLIOSIS, IDIOPATHIC 182000 : SEBORRHEIC KERATOSES 182150 : SIMOSA CRANIOFACIAL SYNDROME 182170 : SIDEROBLASTIC ANEMIA WITH ERYTHROCYTE DIMORPHISM 182190 : SINUS NODE DISEASE AND MYOPIA 182200 : SELLA TURCICA, BRIDGED 182210 : SHPRINTZEN OMPHALOCELE SYNDROME 182220 : SISTER CHROMATID EXCHANGE, FREQUENCY OF 182255 : SKELETAL DYSPLASIA WITH DELAYED EPIPHYSEAL AND CARPAL BONE OSSIFICATION 182260 : SLIPPED FEMORAL CAPITAL EPIPHYSES 182269 : SMALL PROLINE-RICH PROTEIN 2C; SPRR2C 182270 : SMELL KETONE COMPOUNDS, ABILITY TO 182370 : SODIUM-POTASSIUM-ATPase, BETA-POLYPEPTIDE-LIKE 182400 : SOMATOMEDIN, EMBRYONIC 182410 : SNEDDON SYNDROME 182610 : SPASTIC PARAPLEGIA, EPILEPSY, AND MENTAL RETARDATION; SPERM 182690 : SPASTIC PARAPLEGIA, SENSORINEURAL DEAFNESS, MENTAL RETARDATION, AND PROGRESSIVE NEPHROPATHY 182700 : SPASTIC PARAPLEGIA WITH AMYOTROPHY OF HANDS 182800 : SPASTIC PARAPLEGIA WITH ASSOCIATED EXTRAPYRAMIDAL SIGNS 182815 : SPASTIC PARAPLEGIA WITH NEUROPATHY AND POIKILODERMA 182820 : SPASTIC PARAPLEGIA WITH PRECOCIOUS PUBERTY 182830 : SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND DEMENTIA 182875 : SPEECH DEVELOPMENT, DELAYED, WITH FACIAL ASYMMETRY, STRABISMUS, AND TRANSVERSE EARLOBE CREASE 182882 : SPERM PROTAMINE P4; PRM4 182930 : SPHINCTER OF ODDI, FAMILIAL HYPERTROPHY OF 182940 : SPINA BIFIDA 182960 : SPINAL MUSCULAR ATROPHY, DISTAL 182990 : SPINAL INTRADURAL ARACHNOID CYSTS 183020 : SPINAL MUSCULAR ATROPHY, SEGMENTAL 183100 : SPINOCEREBELLAR ATROPHY WITH PUPILLARY PARALYSIS 183250 : SPLENIN 183300 : SPLENOGONADAL FUSION WITH LIMB DEFECTS AND MICROGNATHIA 183400 : SPLIT LOWER LIP 183500 : SPLIT-HAND AND SPLIT-FOOT WITH HYPODONTIA 183700 : SPLIT-FOOT DEFORMITY WITH MANDIBULOFACIAL DYSOSTOSIS 183800 : SPLIT-HAND WITH CONGENITAL NYSTAGMUS, FUNDAL CHANGES, AND CATARACTS 183802 : SPLIT-HAND WITH OBSTRUCTIVE UROPATHY, SPINA BIFIDA, AND DIAPHRAGMATIC DEFECTS 183840 : SPONDYLOARTHROPATHY, AUTOSOMAL DOMINANT 183849 : SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH HYPOTRICHOSIS 183850 : SPONDYLOEPIPHYSEAL DYSPLASIA WITH PUNCTATE CORNEAL DYSTROPHY 184000 : SPONDYLOEPIPHYSEAL DYSPLASIA, MYOPIA, AND SENSORINEURAL DEAFNESS 184095 : SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE 184200 : SPONDYLOLISTHESIS 184253 : SPONDYLOMETAPHYSEAL DYSPLASIA, ALGERIAN TYPE 184260 : SPONDYLOMETAPHYSEAL DYSPLASIA WITH DENTINOGENESIS IMPERFECTA 184300 : SPONDYLOSIS, CERVICAL 184450 : STAMMERING 184460 : STAPES ANKYLOSIS WITH BROAD THUMB AND TOES 184510 : STEATOCYSTOMA MULTIPLEX WITH NATAL TEETH 184705 : STEINFELD SYNDROME 184800 : STERNUM, PREMATURE OBLITERATION OF SUTURES OF 184850 : STIFF MAN SYNDROME, HEREDITARY FORM OF 185020 : STOMATOCYTOSIS, COLD-SENSITIVE 185069 : STORM SYNDROME 185070 : STORMORKEN SYNDROME 185100 : STRABISMUS 185120 : STRATTON-PARKER SYNDROME 185300 : STURGE-WEBER SYNDROME 185400 : SUBGLOTTIC BAR 185450 : SUBLUXATION OF LENSES, LATE 185460 : SULFHEMOGLOBINEMIA, CONGENITAL 185480 : SUPRABULBAR PARESIS, CONGENITAL 185540 : SURFACE ANTIGEN, GLYCOPROTEIN 75 185595 : SURFACE ANTIGEN OF ACTIVATED B CELLS, BB1; BB1 185600 : SYMPHALANGISM OF TOES 185610 : SURFACE POLYPEPTIDES, ANONYMOUS 185642 : SURFEIT 6; SURF6 185650 : SYMPHALANGISM, C. S. LEWIS TYPE 185750 : SYMPHALANGISM WITH MULTIPLE ANOMALIES OF HANDS AND FEET 186200 : SYNDACTYLY, TYPE IV 186575 : SYNOVIAL CHONDROMATOSIS, FAMILIAL, WITH DWARFISM 186600 : SYRINGOMAS, MULTIPLE 186700 : SYRINGOMYELIA 186750 : TALONAVICULAR COALITION 186920 : T-CELL ACUTE LYMPHOBLASTIC LEUKEMIA ANTIGEN; TALLA 186950 : T-CELL SUBGROUPS, NON-HLA-LINKED 187030 : T-COMPLEX LOCUS TCP10B; TCP10B 187050 : TEETH PRESENT AT BIRTH 187100 : TEETH, SUPERNUMERARY 187340 : TEMPERATURE-SENSITIVE LETHAL MUTATION 187350 : TELECANTHUS 187360 : TEMPORAL ARTERITIS 187390 : TENDONS, EXTENSOR, OF FINGERS, ANOMALOUS INSERTION OF 187400 : TESTICULAR TORSION 187500 : TETRALOGY OF FALLOT 187501 : TETRALOGY OF FALLOT AND GLAUCOMA 187510 : TETRAMELIC MONODACTYLY 187550 : THALASSEMIA, BETA+, SILENT ALLELE 187750 : THORACIC DYSOSTOSIS, ISOLATED 187760 : THORACOLARYNGOPELVIC DYSPLASIA; TLPD 187770 : THORACOPELVIC DYSOSTOSIS 187800 : GLANZMANN THROMBASTHENIA; GTA 187940 : THROMBOCYTE B; THB 188020 : THROMBOCYTOPENIA, CYCLIC 188025 : THROMBOCYTOPENIA, PARIS-TROUSSEAU TYPE; TCPT 188030 : THROMBOCYTOPENIC PURPURA, AUTOIMMUNE 188035 : THROMBOGLOBULIN, BETA-2; TGB2 188100 : THUMB DEFORMITY 188150 : THUMB DEFORMITY AND ALOPECIA 188200 : THUMBNAILS, ABSENT 188201 : THUMBS, STIFF, WITH BRACHYDACTYLY TYPE A1 AND DEVELOPMENTAL DELAY 188455 : THYROGLOSSAL DUCT CYST, FAMILIAL 188470 : THYROID CARCINOMA, FOLLICULAR; FTC 188560 : THYROID HORMONE PLASMA MEMBRANE TRANSPORT DEFECT 188580 : THYROTOXIC PERIODIC PARALYSIS 188600 : THYROXINE-BINDING GLOBULIN OF SERUM 188700 : TIBIA VARA 188740 : TIBIA, ABSENCE OF, WITH POLYDACTYLY 189000 : TOE, FIFTH, NUMBER OF PHALANGES IN 189100 : TOE, MISSHAPEN 189150 : TOE, ROTATED FIFTH 189200 : TOES, RELATIVE LENGTH OF FIRST AND SECOND 189230 : TOES, SPACE BETWEEN FIRST AND SECOND 189300 : TONGUE CURLING, FOLDING, OR ROLLING 189490 : TOOTH MALFORMATION 189600 : TORTICOLLIS 189800 : PREECLAMPSIA/ECLAMPSIA 1; PEE1 189960 : TRACHEOESOPHAGEAL FISTULA WITH OR WITHOUT ESOPHAGEAL ATRESIA 189961 : TRACHEOPATHIA OSTEOPLASTICA 189974 : TRANSDUCIN, BETA POLYPEPTIDE 190200 : TREMOR OF INTENTION, ATAXIA, AND LIPOFUSCINOSIS 190330 : TRICHOMEGALY 190340 : TRICHODISCOMAS, FAMILIAL MULTIPLE 190345 : TRICHOEPITHELIOMAS, MULTIPLE DESMOPLASTIC 190360 : TRICHODYSPLASIA-XERODERMA 190400 : TRIGEMINAL NEURALGIA 190410 : TRIGGER THUMB 190420 : TRIGLYCERIDE STORAGE DISEASE, TYPE I 190430 : TRIGLYCERIDE STORAGE DISEASE, TYPE II 190440 : TRIGONOCEPHALY 190445 : TRIIODOTHYRONINE RECEPTOR AUXILIARY PROTEIN; TRAP 190500 : TRIPHALANGEAL THUMB WITH DOUBLE PHALANGES 190650 : TRIPHALANGEAL THUMBS AND DISLOCATION OF PATELLA 190800 : TRISTICHIASIS 191000 : TROCHLEA OF THE HUMERUS, APLASIA OF 191090 : TUBEROUS SCLEROSIS 4; TSC4 191091 : TUBEROUS SCLEROSIS 3; TSC3 191150 : TUFTSIN DEFICIENCY 191250 : TWINNING DUE TO SUPERFETATION 191270 : TYROSINASE-LIKE; TYRL 191400 : ULNA AND FIBULA, HYPOPLASIA OF 191420 : ULNA METAPHYSEAL DYSPLASIA SYNDROME 191440 : ULNAR HYPOPLASIA 191482 : UNCOMBABLE HAIR, RETINAL PIGMENTARY DYSTROPHY, DENTAL ANOMALIES, AND BRACHYDACTYLY 191600 : URETER, CANCER OF 191650 : URETEROCELE 191700 : URIC ACID UROLITHIASIS 191800 : URINARY BLADDER, ATONY OF 191850 : URTICARIA, AQUAGENIC 191950 : URTICARIA, FAMILIAL LOCALIZED HEAT 192000 : UTERINE ANOMALIES 192050 : UTERUS BICORNIS BICOLLIS WITH PARTIAL VAGINAL SEPTUM AND UNILATERAL HEMATOCOLPOS WITH IPSILATERAL RENAL AGENESIS 192100 : UVULA, BIFID 192200 : VARICOSE VEINS 192300 : VASCULAR HELIX OF UMBILICAL CORD 192310 : VASCULITIS, HEREDITARY INFLAMMATORY, WITH PERSISTENT NODULES 192350 : VATER ASSOCIATION 192400 : VEINS, PATTERN OF, ON ANTERIOR THORAX 192445 : VENTRICULAR EXTRASYSTOLES WITH SYNCOPE, PERODACTYLY, AND ROBIN SEQUENCE 192450 : VENTRICULAR FIBRILLATION, PAROXYSMAL FAMILIAL 192700 : VENULAR INSUFFICIENCY, SYSTEMIC 192800 : VERTEBRAL FUSION, POSTERIOR LUMBOSACRAL, WITH BLEPHAROPTOSIS 192950 : VERTICAL TALUS, CONGENITAL; CVT 193000 : VESICOURETERAL REFLUX; VUR 193003 : VESTIBULOCEREBELLAR DISORDER WITH PREDOMINANT OCULAR SIGNS 193005 : VESTIBULOCOCHLEAR DYSFUNCTION, PROGRESSIVE 193007 : VESTIBULOPATHY, FAMILIAL 193050 : VIBRATORY ANGIOEDEMA 193070 : VIRUS RD114 RNA COMPLEMENTARITY 193200 : VITILIGO 193230 : VITREORETINAL DEGENERATION, SNOWFLAKE TYPE 193240 : VOCAL CORD PARALYSIS AND PTOSIS 193450 : VULVOVAGINITIS, ALLERGIC SEMINAL 193670 : WHIM SYNDROME 193675 : 'WHIRLER' DEAFNESS, HUMAN HOMOLOG OF; WI 193680 : WHISPERING DYSPHONIA, HEREDITARY 194000 : WIDOW'S PEAK 194100 : WISDOM TEETH, ABSENCE OF 194200 : WOLFF-PARKINSON-WHITE SYNDROME 194320 : WORONETS TRAIT 194370 : X-RAY SENSITIVITY; XRS 194400 : XERODERMA PIGMENTOSUM, AUTOSOMAL DOMINANT, MILD 194522 : ZINC FINGER PROTEIN 11B; ZNF11B
Alexa - Browse: Rare Disorders Barth Syndrome (4); cerebrocostomandibular syndrome (2) NINDS AicardiSyndrome Information sheet compiled by National Institute of Neurological http://www.alexa.com/browse?&CategoryID=87697
Health Library cerebrocostomandibular syndrome Cesarean Birth CFC Syndrome CharcotMarie-Tooth CHARGE Syndrome Charity / Service Organizations http://www.mountauburn.caregroup.org/library/healthguide/en-us/selfhelp/SearchRe
Obstetrics & Gynecology -- Sign In Page Three of 15 neonates had a syndrome (cerebrocostomandibular), an association cerebrocostomandibular syndrome has a characteristic ribgap abnormality. http://www.greenjournal.org/cgi/content/full/102/4/801
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Extractions: Rare Diseases: Disorders: Text Format Rare Diseases Here is a comma-delimited list of NORD's Rare Diseases To add these words to your spell checker: With your word-processing program or a text editor open, use your mouse to select all the words below in one group. Then, while the words are still selected, copy the words by keying <CTRL>+<C>. This copies the selected text to your computer's "clipboard." Go to a new page in your word-processing program or text editor and key <CTRL><V>. This "pastes" the words onto the page from your computer's "clipboard." Now run your spell-checking feature as you normally would and just add any words your spell checker program does not recognize, keeping in mind the cautions outlined above. The drug and product words and word-groups listed below are separated by a "pipe" character. - - - - START COPYING JUST BELOW HERE - - - -
NORD Rare Disease - Medword Medical Transcription Cerebro Oculo Facio Skeletal Syndrome cerebrocostomandibular syndrome Chagas Disease Chalazion Chandler s Syndrome Charcot Marie Tooth Disease http://www.medword.com/rardisC.html
Extractions: C This listing of rare diseases is provided for spelling reference. Clicking on the link will generate a new window and take you to NORD's home page, where you may search for an abstract of the disease or order a full text report of the disease. Please read the notice at the bottom of this page before using this list. A B C D ... Z Please use the above list at your own risk. While we make every effort to ensure accuracy, we cannot be held responsible for errors in spelling or capitalization, or any circumstance that may result because of said error. In using the above list you also agree to never hold ANSO Consulting Inc. or Medword Medical Transcription responsible for any errors should they exist. Please Note: Associate Medical Coder Certified Medical Coder Home-Study Medical Billing Medical Coding Medical Office Specialist Medical Terminology ... Medical Office Manager Online-Study Combined Medical Courses Legal Transcription Training Medical Billing Medical Coding ... MT Jumpstart Program MT Course with One-on-One Support Medical Transcription Made Easy
