OMIM References: Difference between revisions

From Embryology
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=100050 AARSKOG SYNDROME]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=100050 AARSKOG SYNDROME]


====Scoliosis====
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=181800 SCOLIOSIS, IDIOPATHIC]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=555000 OPHTHALMOPLEGIA, PROGRESSIVE EXTERNAL, AND SCOLIOSIS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603438 RADIOULNAR SYNOSTOSIS WITH SHORT STATURE, MICROCEPHALY, SCOLIOSIS, AND MENTAL RETARDATION]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182210 SHPRINTZEN OMPHALOCELE SYNDROME]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603133 DISLOCATED ELBOWS, BOWED TIBIAS, SCOLIOSIS, DEAFNESS, CATARACT, MICROCEPHALY, AND MENTAL RETARDATION]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=272460 SYNSPONDYLISM, CONGENITAL]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134797 FIBRILLIN 1; FBN1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=121050 CONTRACTURAL ARACHNODACTYLY, CONGENITAL; CCA]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=229300 FRIEDREICH ATAXIA 1; FRDA]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305620 FRONTOMETAPHYSEAL DYSPLASIA]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=250230 METAPHYSEAL CHONDRODYSPLASIA, KAITILA TYPE]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176250 POSTERIOR COLUMN ATAXIA]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=235000 HEMIHYPERTROPHY]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600295 NATRIURETIC PEPTIDE PRECURSOR B; NPPB]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=162200 NEUROFIBROMATOSIS, TYPE I; NF1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=109400 BASAL CELL NEVUS SYNDROME; BCNS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=113450 BRACHYDACTYLY-DISTAL SYMPHALANGISM SYNDROME]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=271640 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY; SEMDJL]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=222600 DIASTROPHIC DYSPLASIA; DTD]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=154700 MARFAN SYNDROME; MFS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=310200 MUSCULAR DYSTROPHY, PSEUDOHYPERTROPHIC PROGRESSIVE, DUCHENNE AND BECKER TYPES]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=309550 FRAGILE SITE MENTAL RETARDATION 1; FMR1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184250 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, STRUDWICK TYPE]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=255310 MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=108130 ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE II]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=225400 EHLERS-DANLOS SYNDROME, TYPE VI]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=166200 OSTEOGENESIS IMPERFECTA, TYPE I]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=108450 ASYMMETRIC SHORT STATURE SYNDROME]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=119600 CLEIDOCRANIAL DYSPLASIA; CCD]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120150 COLLAGEN, TYPE I, ALPHA-1; COL1A1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147920 KABUKI SYNDROME]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=113500 BRACHYRACHIA]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=158350 COWDEN DISEASE; CD]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=108110 ARTHROGRYPOSIS MULTIPLEX CONGENITA; AMC]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104350 AMASTIA, BILATERAL, WITH URETERAL TRIPLICATION AND DYSMORPHISM]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=162300 NEUROMATA, MUCOSAL, WITH ENDOCRINE TUMORS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=162500 NEUROPATHY, HEREDITARY, WITH LIABILITY TO PRESSURE PALSIES; HNPP]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=157170 HOLOPROSENCEPHALY 2; HPE2]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=229850 FRYNS SYNDROME; FRNS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=166500 OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=230500 GANGLIOSIDOSIS, GENERALIZED GM1, TYPE I]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=256030 NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE; NEM2]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=255995 NATIVE AMERICAN MYOPATHY]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602771 MUSCULAR DYSTROPHY, CONGENITAL, MEROSIN-POSITIVE, WITH EARLY SPINE RIGIDITY]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602612 CAMPTODACTYLY, MYOPIA, AND FIBROSIS OF THE MEDIAL RECTUS MUSCLE OF EYE]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176690 PROGEROID SHORT STATURE WITH PIGMENTED NEVI]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601462 MYASTHENIC SYNDROME, SLOW-CHANNEL CONGENITAL; SCCMS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601389 CERVICAL RIBS, SPRENGEL ANOMALY, ANAL ATRESIA, AND URETHRAL OBSTRUCTION]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=178110 PTERYGIUM SYNDROME, MULTIPLE, AUTOSOMAL DOMINANT TYPE]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601472 CHARCOT-MARIE-TOOTH DISEASE, NEURONAL TYPE, D]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601357 BRACHIAL AMELIA, FOREBRAIN DEFECTS, AND FACIAL CLEFTS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601352 MENTAL RETARDATION, MICROCEPHALY, EPILEPSY, AND COARSE FACE]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601344 SPINAL DYSPLASIA, ANHALT TYPE]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600908 AGONADISM, XY, WITH MENTAL RETARDATION, SHORT STATURE, RETARDED BONE AGE, AND MULTIPLE EXTRAGENITAL MALFORMATIONS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182290 SMITH-MAGENIS SYNDROME; SMS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=183802 SPLIT-HAND WITH OBSTRUCTIVE UROPATHY, SPINA BIFIDA, AND DIAPHRAGMATIC DEFECTS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600325 AMINOPTERIN-LIKE SYNDROME SINE AMINOPTERIN]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=311300 OTOPALATODIGITAL SYNDROME]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=310300 EMERY-DREIFUSS MUSCULAR DYSTROPHY]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=186700 SYRINGOMYELIA]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188800 TIBIAL TORSION, BILATERAL MEDIAL]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=193700 WHISTLING FACE-WINDMILL VANE HAND SYNDROME]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=309620 MENTAL RETARDATION, SKELETAL DYSPLASIA, AND ABDUCENS PALSY; MRSD]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=313420 SPONDYLOMETAPHYSEAL DYSPLASIA, X-LINKED]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201470 ACYL-CoA DEHYDROGENASE, SHORT-CHAIN; ACADS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600000 SPONDYLOCAMPTODACTYLY]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=208400 ASPARTYLGLUCOSAMINURIA]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600119 SARCOGLYCAN, ALPHA; SGCA]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=211930 CAMPTODACTYLY WITH FIBROUS TISSUE HYPERPLASIA AND SKELETAL DYSPLASIA]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=218000 CORPUS CALLOSUM, AGENESIS OF, WITH NEURONOPATHY]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=219200 CUTIS LAXA WITH BONE DYSTROPHY]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=221810 DERMATOOSTEOLYSIS, KIRGHIZIAN TYPE]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601829 ACROFACIAL DYSOSTOSIS, PALAGONIA TYPE]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=223900 DYSAUTONOMIA, FAMILIAL; DYS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=224800 ECTODERMAL DYSPLASIA AND NEUROSENSORY DEAFNESS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=309600 MENTAL RETARDATION, X-LINKED, WITH HYPOTONIA]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=309583 MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300004 CORPUS CALLOSUM, AGENESIS OF, WITH SEIZURES AND MICRENCEPHALY]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=268050 RETINOPATHY, PIGMENTARY, AND MENTAL RETARDATION]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=265000 PTERYGIUM SYNDROME]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=264180 PSEUDODIASTROPHIC DYSPLASIA]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=234250 HALL-RIGGS MENTAL RETARDATION SYNDROME]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=251240 MICROCEPHALY WITH CHEMOTACTIC DEFECT AND TRANSIENT HYPOGAMMAGLOBULINEMIA]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=304050 CORPUS CALLOSUM, AGENESIS OF, WITH CHORIORETINAL ABNORMALITY]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=246000 LEG, ABSENCE DEFORMITY OF, WITH CONGENITAL CATARACT]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=253500 MUSCULAR ATROPHY, PROGRESSIVE]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=250600 METATROPIC DWARFISM]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301830 ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, X-LINKED]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=271270 SPINOCEREBELLAR ATAXIA WITH DYSMORPHISM]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300061 MENTAL RETARDATION, X-LINKED; DXS6673E]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=248800 MARINESCO-SJOGREN SYNDROME; MSS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=249310 MEGALOCORNEA-MENTAL RETARDATION SYNDROME]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147060 IMMUNOGLOBULIN E, ELEVATED, WITH NEUTROPHIL CHEMOTAXIS DEFECT, RECURRENT INFECTIONS, AND MUCOCUTANEOUS CANDIDIASIS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=250250 CARTILAGE-HAIR HYPOPLASIA; CHH]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150250 LARSEN SYNDROME, AUTOSOMAL DOMINANT; LRS1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=245600 LARSEN SYNDROME, RECESSIVE]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=248700 MARDEN-WALKER SYNDROME; MWS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=194050 WILLIAMS-BEUREN SYNDROME; WBS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=208900 ATAXIA-TELANGIECTASIA; AT]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=254940 MYOPATHY, CONGENITAL NONPROGRESSIVE, WITH MOEBIUS SEQUENCE AND ROBIN SEQUENCE]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=256550 NEURAMINIDASE DEFICIENCY]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=259420 OSTEOGENESIS IMPERFECTA, PROGRESSIVELY DEFORMING, WITH NORMAL SCLERAE]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=253220 MUCOPOLYSACCHARIDOSIS TYPE VII]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=259450 BRUCK SYNDROME]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=153454 PROCOLLAGEN-LYSINE, 2-OXOGLUTARATE 5-DIOXYGENASE; PLOD]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=154750 MARFANOID HYPERMOBILITY SYNDROME]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=229310 FRIEDREICH ATAXIA AND CONGENITAL GLAUCOMA]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201200 ACROGERIA]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=271510 SPONASTRIME DYSPLASIA]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136760 FRONTONASAL DYSPLASIA]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934 FIBROBLAST GROWTH FACTOR RECEPTOR 3; FGFR3]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=277300 VERTEBRAL ANOMALIES]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=277590 WEAVER SYNDROME]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=277990 WOLFF MENTAL RETARDATION SYNDROME]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=278700 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A; XPA]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=154850 MASTICATORY MUSCLES, HYPERTROPHY OF]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=203800 ALSTROM SYNDROME; ALMS1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300088 EPILEPSY, FEMALE RESTRICTED, WITH MENTAL RETARDATION; EFMR]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=156530 METATROPIC DYSPLASIA, NONLETHAL DOMINANT]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=302380 CATEL-MANZKE SYNDROME]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=302900 CHARCOT-MARIE-TOOTH PERONEAL MUSCULAR ATROPHY AND FRIEDREICH ATAXIA, COMBINED]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=303400 CLEFT PALATE, X-LINKED; CPX]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=259440 OSTEOGENESIS IMPERFECTA, SILLENCE TYPE II/III, WITHOUT ABNORMALITY OF TYPE I COLLAGEN]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305450 FG SYNDROME; FGS1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305600 FOCAL DERMAL HYPOPLASIA; DHOF]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131300 ENGELMANN DISEASE]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308050 ICHTHYOSIFORM ERYTHRODERMA, UNILATERAL, WITH IPSILATERAL MALFORMATIONS, ESPECIALLY ABSENCE DEFORMITY OF LIMBS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120215 COLLAGEN, TYPE V, ALPHA-1; COL5A1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227650 FANCONI ANEMIA, COMPLEMENTATION GROUP A; FANCA]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=156400 METAPHYSEAL CHONDRODYSPLASIA, MURK JANSEN TYPE]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=255200 MYOPATHY, CENTRONUCLEAR]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120160 COLLAGEN, TYPE I, ALPHA-2; COL1A2]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159550 MYELOCEREBELLAR DISORDER]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180500 RIEGER SYNDROME, TYPE 1; RIEG1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=145600 MALIGNANT HYPERTHERMIA SUSCEPTIBILITY 1; MHS1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118650 CHONDRODYSPLASIA PUNCTATA, AUTOSOMAL DOMINANT]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184100 SPONDYLOEPIPHYSEAL DYSPLASIA TARDA]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173900 POLYCYSTIC KIDNEYS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225 GTP CYCLOHYDROLASE I; GCH1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=109740 BIFID NOSE]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=183900 SPONDYLOEPIPHYSEAL DYSPLASIA, CONGENITAL TYPE]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=166220 OSTEOGENESIS IMPERFECTA, TYPE IV; OI4]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=166240 OSTEOGENESIS IMPERFECTA WITH OPALESCENT TEETH]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180870 RUVALCABA SYNDROME]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180700 ROBINOW SYNDROME]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=177170 PSEUDOACHONDROPLASTIC DYSPLASIA]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=177150 PSEUDOACHONDROPLASTIC DYSPLASIA I]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=255320 MYOPATHY, CONGENITAL MULTICORE, WITH EXTERNAL OPHTHALMOPLEGIA]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601492 HYALURONIDASE DEFICIENCY]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601701 ARTHROGRYPOSIS AND ECTODERMAL DYSPLASIA]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=168400 PARASTREMMATIC DWARFISM]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602091 LATENT TRANSFORMING GROWTH FACTOR-BETA BINDING PROTEIN 2; LTBP2]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602419 EARLY GROWTH RESPONSE 3; EGR3]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602497 CHONDRODYSPLASIA PUNCTATA, BRACHYTELEPHALANGIC]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176270 PRADER-WILLI SYNDROME; PWS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=170390 PERIODIC PARALYSIS, POTASSIUM-SENSITIVE CARDIODYSRHYTHMIC TYPE]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602783 PARAPLEGIN]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=108140 ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE II, WITH CRANIOFACIAL ABNORMALITIES]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=100690 CHOLINERGIC RECEPTOR, NICOTINIC, ALPHA POLYPEPTIDE 1; CHRNA1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603546 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH MULTIPLE DISLOCATIONS]


== 1999 OMIM Pages ==
== 1999 OMIM Pages ==

Revision as of 11:21, 23 March 2010

Introduction

There are many different Online Mendelian Inheritence in Man (OMIM) reference materials used in UNSW Embryology. Selected OMIM references can also be found on the Abnormalities (page 2) of each section of Notes and there are also search buttons that will perform searches using specific term(s) of external databases. Some search results will allow access to the full original document, while others may require a Journal subscription to access the full document.

Students when referencing specific materials should as much as possible cite the original Research article and not Review articles. When wanting to give a broad overview or summaries of the field, the Review articles should be cited (and indicated as "reviews"). Students should also avoid direct text cut and paste and if absolutely necessary should place in "quotation marks" citing the original reference.


About OMIM "Online Mendelian Inheritance in Man OMIM is a comprehensive, authoritative, and timely compendium of human genes and genetic phenotypes. The full-text, referenced overviews in OMIM contain information on all known mendelian disorders and over 12,000 genes. OMIM focuses on the relationship between phenotype and genotype. It is updated daily, and the entries contain copious links to other genetics resources." OMIM



Links: OMIM | Citing OMIM?

2010 OMIM Pages by Developmental Topic

Week 1

Fertilization

Spermatozoa Motility

Spermatozoa

Cardiovascular

Tetralogy of Fallot

Atrial Septal Defect

Musculoskeletal

Muscular Dystrophy

Syndactyly


Scoliosis

1999 OMIM Pages

In 1999 I searched the Online Mendelian Inheritence in Man (OMIM) database and selected a small number of references for each topic. These earlier searches are now slightly out of date, but should still be a good starting point for those interested in the topics.

These pages retain the original earlier site (Version 3) page layout.

Week 1

Fertilization

Week 2

Week 3

Abnormal Development

Neural

Cardiovascular

Musculoskeletal

Gastrointestinal

Head and Neck

Coelomic Cavity

Respiratory

Neural Crest

Senses

Urogenital

Kidney

Gonad

Endocrine

Retrieved from ‘https://embryology.med.unsw.edu.au/embryology/index.php?title=OMIM_References&oldid=17137’
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