OMIM References: Difference between revisions

From Embryology
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=100800 ACHONDROPLASIA; ACH]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=100800 ACHONDROPLASIA; ACH]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=258450 OPHTHALMOPLEGIA, PROGRESSIVE EXTERNAL]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=258450 OPHTHALMOPLEGIA, PROGRESSIVE EXTERNAL]
====Syndactyly====
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=186100 SYNDACTYLY, TYPE III]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=186200 SYNDACTYLY, TYPE IV]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=186300 SYNDACTYLY, TYPE V]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=219000 CRYPTOPHTHALMOS WITH OTHER MALFORMATIONS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=185900 SYNDACTYLY, TYPE I]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=186000 SYNDACTYLY, TYPE II]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=225000 ECTODERMAL DYSPLASIA, CLEFT LIP AND PALATE, HAND AND FOOT DEFORMITY, AND MENTAL RETARDATION]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=272440 SYNDACTYLY, TYPE I, WITH MICROCEPHALY AND MENTAL RETARDATION]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=212780 CENANI SYNDACTYLISM]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=269500 SCLEROSTEOSIS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=101400 SAETHRE-CHOTZEN SYNDROME; SCS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601446 SYNDACTYLY WITH RENAL AND ANOGENITAL MALFORMATIONS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600906 ECTODERMAL DYSPLASIA WITH MENTAL RETARDATION AND SYNDACTYLY]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=206920 ANOPHTHALMOS WITH LIMB ANOMALIES]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173800 POLAND SYNDROME]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=186350 SYNDACTYLY-POLYDACTYLY-EARLOBE SYNDROME]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601005 LONG QT SYNDROME WITH SYNDACTYLY]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600384 APHALANGIA, PARTIAL, WITH SYNDACTYLY AND DUPLICATION OF METATARSAL IV]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=210745 BLEPHAROPHIMOSIS WITH PTOSIS, SYNDACTYLY, AND SHORT STATURE]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227210 EYEBROWS, DUPLICATION OF, WITH STRETCHABLE SKIN AND SYNDACTYLY]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184460 STAPES ANKYLOSIS WITH BROAD THUMB AND TOES]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190605 TRIPHALANGEAL THUMB-POLYSYNDACTYLY SYNDROME]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164200 OCULODENTODIGITAL DYSPLASIA; ODDD]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=101200 APERT SYNDROME]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=174700 POLYDACTYLY, PREAXIAL IV]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943 FIBROBLAST GROWTH FACTOR RECEPTOR 2; FGFR2]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188770 TIBIA, HYPOPLASIA OF, WITH POLYDACTYLY]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=119500 CLEFT LIP/PALATE, PARAMEDIAN MUCOUS CYSTS OF THE LOWER LIP, POPLITEAL PTERYGIUM, DIGITAL AND GENITAL ANOMALIES]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=270400 SMITH-LEMLI-OPITZ SYNDROME, TYPE I]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=312860 SCOTT CRANIODIGITAL SYNDROME WITH MENTAL RETARDATION]
* [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=601222 CRANIOSYNOSTOSIS, PHILADELPHIA TYPE]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=175700 GREIG CEPHALOPOLYSYNDACTYLY SYNDROME; GCPS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146510 PALLISTER-HALL SYNDROME; PHS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=263650 POPLITEAL PTERYGIUM SYNDROME, LETHAL TYPE]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=225060 ECTODERMAL DYSPLASIA, TYPE 4; ED4]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107480 TOWNES-BROCKS SYNDROME; TBS]
* [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=149730 LACRIMOAURICULODENTODIGITAL SYNDROME; LADD]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=263450 POLYDACTYLY, POSTAXIAL]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=311200 OROFACIODIGITAL SYNDROME 1; OFD1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=162100 NEURITIS WITH BRACHIAL PREDILECTION; NAPB]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164280 OCULODIGITOESOPHAGODUODENAL SYNDROME]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=257850 OCULODENTOOSSEOUS DYSPLASIA, RECESSIVE]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=181270 SCALP-EAR-NIPPLE SYNDROME]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=225280 EEM SYNDROME]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=235510 HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=135750 FIBULA AND ULNA, DUPLICATION OF, WITH ABSENCE OF TIBIA AND RADIUS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=119580 BLEPHAROCHEILODONTIC SYNDROME]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201000 ACROCEPHALOPOLYSYNDACTYLY TYPE II]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=304120 CRANIOORODIGITAL SYNDROME]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182600 SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT; SPG3A]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=113000 BRACHYDACTYLY, TYPE B1; BDB1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=151050 LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=148820 KLEIN-WAARDENBURG SYNDROME]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=143095 HUMEROSPINAL DYSOSTOSIS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142900 HOLT-ORAM SYNDROME; HOS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176920 PROTEUS SYNDROME]
* [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=164220 OCULAR HYPOTELORISM, SUBMUCOSAL CLEFT PALATE, AND HYPOSPADIAS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=124800 DEAFNESS, PROGRESSIVE HIGH-TONE NEURAL]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=185750 SYMPHALANGISM WITH MULTIPLE ANOMALIES OF HANDS AND FEET]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=181510 SCHIZOPHRENIA 1; SCZD1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=122470 CORNELIA DE LANGE SYNDROME 1; CDL1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120400 COLOBOMA OF MACULA WITH TYPE B BRACHYDACTYLY]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=129900 ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1; EEC1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114150 CAMPTOBRACHYDACTYLY]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=183700 SPLIT-FOOT DEFORMITY WITH MANDIBULOFACIAL DYSOSTOSIS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188025 THROMBOCYTOPENIA, PARIS-TROUSSEAU TYPE; TCPT]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188740 TIBIA, ABSENCE OF, WITH POLYDACTYLY]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=109050 AUROCEPHALOSYNDACTYLY]
* [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=102510 ACROPECTOROVERTEBRAL DYSPLASIA, F-FORM OF]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102490 ACRORENOOCULAR SYNDROME]
* [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=101600 PFEIFFER SYNDROME]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201180 ACROFRONTOFACIONASAL DYSOSTOSIS SYNDROME]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603596 POLYDACTYLY]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=203550 ALOPECIA-CONTRACTURES-DWARFISM MENTAL RETARDATION SYNDROME]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=269630 SECOND METATARSAL-METACARPAL SYNDROME]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=209900 BARDET-BIEDL SYNDROME, TYPE 2; BBS2]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602858 DELTA-7-DEHYDROCHOLESTEROL REDUCTASE; DHCR7]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=269150 SCHINZEL-GIEDION MIDFACE-RETRACTION SYNDROME]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602249 PROGEROID FACIAL APPEARANCE WITH HAND ANOMALIES]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=263630 POLYSYNDACTYLY WITH CARDIAC MALFORMATION]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=217085 CONGENITAL HEART DEFECTS, HAMARTOMAS OF TONGUE, AND POLYSYNDACTYLY]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600987 CARDIAC MALFORMATION, CLEFT LIP-PALATE, MICROCEPHALY AND DIGITAL ANOMALIES]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601163 DIAPHRAGMATIC DEFECTS, LIMB DEFICIENCIES, AND OSSIFICATION DEFECTS OF SKULL]
* [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=263540 POLYDACTYLY, POSTAXIAL, WITH DENTAL AND VERTEBRAL ANOMALIES]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=312870 SIMPSON DYSMORPHIA SYNDROME; SDYS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=256520 NEU-LAXOVA SYNDROME; NLS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=251255 MICROCEPHALY WITH DIGITAL ANOMALIES]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=271109 SPINAL MUSCULAR ATROPHY WITH MENTAL RETARDATION]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602501 MEGALENCEPHALY-CUTIS MARMORATA TELANGIECTATICA CONGENITA]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601359 SEBACEOUS NEVUS SYNDROME AND HEMIMEGALENCEPHALY]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=268670 RUTLEDGE LETHAL MULTIPLE CONGENITAL ANOMALY SYNDROME]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601224 DEFECT 11 CONTIGUOUS GENE SYNDROME]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314360 ULNAR HYPOPLASIA WITH LOBSTER-CLAW DEFORMITY OF FEET]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=249000 MECKEL SYNDROME; MKS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=313350 SPLIT-HAND/SPLIT-FOOT ANOMALY, X-LINKED]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=236500 HYDRANENCEPHALY WITH RENAL APLASIA-DYSPLASIA]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=239710 HYPERTELORISM, HYPOSPADIAS, POLYSYNDACTYLY SYNDROME]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=304110 CRANIOFRONTONASAL SYNDROME; CFNS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=241000 HYPOGONADISM WITH LOW-GRADE MENTAL DEFICIENCY AND MICROCEPHALY]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=243340 ISCHIADIC HYPOPLASIA WITH RENAL DYSFUNCTION, IMMUNODEFICIENCY, AND POLYDACTYLY]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=245600 LARSEN SYNDROME, RECESSIVE]
* [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=272350 SUMMITT SYNDROME]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300049 HETEROTOPIA, FAMILIAL NODULAR]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=168500 PARIETAL FORAMINA, SYMMETRIC; PFM]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=239800 HYPERTELORISM, MICROTIA, FACIAL CLEFTING SYNDROME]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=258860 ORAL-FACIAL-DIGITAL SYNDROME, TYPE IV]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=261800 PIERRE ROBIN SYNDROME]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160980 CARNEY COMPLEX; CNC]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=235730 HIRSCHSPRUNG DISEASE, MICROCEPHALY, AND IRIS COLOBOMA]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=252100 MOHR SYNDROME]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=217100 CONSTRICTING BANDS, CONGENITAL]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=228930 FIBULAR APLASIA OR HYPOPLASIA, FEMORAL BOWING AND POLY-, SYN-, AND OLIGODACTYLY]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173900 POLYCYSTIC KIDNEYS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=226700 EPIDERMOLYSIS BULLOSA LETALIS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=226600 EPIDERMOLYSIS BULLOSA DYSTROPHICA, HALLOPEAU-SIEMENS TYPE; EBR1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=174200 POLYDACTYLY, POSTAXIAL, TYPE A1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201181 ACROFRONTOFACIONASAL DYSOSTOSIS, SEVERE]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=226450 EPIDERMOLYSIS BULLOSA INVERSA DYSTROPHICA]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=174400 POLYDACTYLY, PREAXIAL I]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=175690 POLYSYNDACTYLY, CROSSED]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136000 FINGERPRINTS, ABSENCE OF]
* [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=300166 OCULOFACIOCARDIODENTAL SYNDROME]
* [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=180860 RUSSELL-SILVER SYNDROME; RSS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=124480 DEAFNESS AND ONYCHODYSTROPHY, DOMINANT FORM]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305400 FACIOGENITAL DYSPLASIA; FGD1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305450 FG SYNDROME; FGS1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=123150 JACKSON-WEISS SYNDROME; JWS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=309800 MICROPHTHALMIA OR ANOPHTHALMOS, WITH ASSOCIATED ANOMALIES; MAA]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=309801 MICROPHTHALMIA WITH LINEAR SKIN DEFECTS; MLS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=122920 CRANIOFRONTAL DYSPLASIA]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118220 CHARCOT-MARIE-TOOTH DISEASE, TYPE 1A; CMT1A]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=200500 ACHEIROPODY]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=220210 DANDY-WALKER-LIKE MALFORMATION WITH ATRIOVENTRICULAR SEPTAL DEFECT]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=218090 CRANE-HEISE SYNDROME]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600151 BARDET-BIEDL SYNDROME, TYPE 3; BBS3]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600374 BARDET-BIEDL SYNDROME, TYPE 4; BBS4]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=115470 CAT EYE SYNDROME; CES]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600901 FANCONI ANEMIA, COMPLEMENTATION GROUP E; FANCE]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107600 APLASIA CUTIS CONGENITA]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=218330 CRANIOECTODERMAL DYSPLASIA]
* [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=102650 ADACTYLIA, UNILATERAL]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=264475 PSEUDOPAPILLEDEMA, OCULAR HYPOTELORISM, BLEPHAROPHIMOSIS, AND HAND ANOMALIES]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=101120 ACROCEPHALOPOLYSYNDACTYLY TYPE III]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=265000 PTERYGIUM SYNDROME]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601309 PATCHED, DROSOPHILA, HOMOLOG OF; PTCH]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=211910 CAMPTODACTYLY SYNDROME, GUADALAJARA TYPE I; GCS1]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=214800 CHOANAL ATRESIA, POSTERIOR; PCA]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601707 CRANIOFACIAL MALFORMATIONS, ASYMMETRIC, WITH POLYSYNDACTYLY AND ABNORMAL SKIN AND GUT DEVELOPMENT]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601754 UBIQUITIN FUSION DEGRADATION 1-LIKE; UFD1L]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142989 HOMEO BOX D13; HOXD13]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602071 BROAD TERMINAL PHALANGES, FAMILIAL]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=200990 ACROCALLOSAL SYNDROME; ACLS]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136535 FORMIN; FMN]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602531 ARTERIAL OCCLUSIVE DISEASE, PROGRESSIVE, WITH HYPERTENSION, HEART DEFECTS, BONE FRAGILITY, AND BRACHYSYNDACTYLY]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602570 JAGGED 2; JAG2]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602585 MICROCEPHALY AND DIGITAL ABNORMALITIES WITH NORMAL INTELLIGENCE]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602849 MUENKE SYNDROME]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201020 ACROCEPHALOPOLYSYNDACTYLY TYPE IV]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=100050 AARSKOG SYNDROME]


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

Revision as of 11:18, 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


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=17136’
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