PubMed Nucleotide Protein Genome Structure PopSet Taxonomy OMIM

OMIM Update List for May, 2009

May 29, 2009

New Entries:

612837 COQ9, S. CEREVISIAE, HOMOLOG OF; COQ9

Changed Entries:

113500 BRACHYOLMIA TYPE 3

125240 CD55 ANTIGEN; CD55

137360 GENOCHONDROMATOSIS

146660 INTERLEUKIN 7; IL7

156530 METATROPIC DYSPLASIA

156550 KNIEST DYSPLASIA

176680 MOVED TO 142880

184252 SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE; SMDK

185470 SUCCINATE DEHYDROGENASE COMPLEX, SUBUNIT B, IRON SULFUR PROTEIN; SDHB

187600 THANATOPHORIC DYSPLASIA, TYPE I; TD1

192240 VASCULAR ENDOTHELIAL GROWTH FACTOR; VEGF

194460 ALPHA-2-GLYCOPROTEIN, ZINC; AZGP1

218340 CRANIOFACIAL DYSMORPHISM WITH OCULAR COLOBOMA, ABSENT CORPUS CALLOSUM,

242900 IMMUNOOSSEOUS DYSPLASIA, SCHIMKE TYPE

250600 MOVED TO 156530

261600 PHENYLKETONURIA; PKU

300017 FILAMIN A; FLNA

300049 HETEROTOPIA, PERIVENTRICULAR, X-LINKED DOMINANT

300321 FG SYNDROME 2; FGS2

304110 CRANIOFRONTONASAL SYNDROME; CFNS

305450 OPITZ-KAVEGGIA SYNDROME; OKS

600133 LAMININ, ALPHA-4; LAMA4

600527 EPHRIN B2; EFNB2

601011 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, P/Q TYPE, ALPHA-1A SUBUNIT; CACNA1A

601033 LAMININ, ALPHA-5; LAMA5

601808 CHROMOSOME 18q DELETION SYNDROME

601937 NUCLEAR RECEPTOR COACTIVATOR 3; NCOA3

603020 ATPase FAMILY GENE 3-LIKE 1; AFG3L1

603149 INTERLEUKIN 17A; IL17A

604499 HYPERLIPIDEMIA, COMBINED, 2

604856 LANGERHANS CELL HISTIOCYTOSIS

605427 TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY V, MEMBER 4;

606598 GANGLIOSIDE-INDUCED DIFFERENTIATION-ASSOCIATED PROTEIN 1; GDAP1

607426 COENZYME Q10 DEFICIENCY

607790 TET ONCOGENE 1; TET1

607872 CHROMOSOME 1p36 DELETION SYNDROME

612349 PHENYLALANINE HYDROXYLASE; PAH

612834 PLECKSTRIN HOMOLOGY-LIKE DOMAIN, FAMILY B, MEMBER 1; PHLDB1

612837 COQ9, S. CEREVISIAE, HOMOLOG OF; COQ9

Clinical Synopsis for 115310 PARAGANGLIOMAS 4; PGL4

May 28, 2009

New Entries:

612823 TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR 1D; TAF1D

612824 SEC14-LIKE 3; SEC14L3

612825 SEC14-LIKE 4; SEC14L4

612826 SPHINGOSINE-1-PHOSPHATE PHOSPHATASE 1; SGPP1

612827 SPHINGOSINE-1-PHOSPHATE PHOSPHATASE 2; SGPP2

612828 CCAAT/ENHANCER-BINDING PROTEIN, ZETA; CEBPZ

612829 RAS-ASSOCIATED PROTEIN RAB3C; RAB3C

612830 SHORT-CHAIN DEHYDROGENASE/REDUCTASE FAMILY, MEMBER 3; DHRS3

612831 17-@BETA-HYDROXYSTEROID DEHYDROGENASE XI; HSD17B11

612832 17-@BETA-HYDROXYSTEROID DEHYDROGENASE XIV; HSD17B14

612833 SHORT-CHAIN DEHYDROGENASE/REDUCTASE FAMILY, MEMBER 7; DHRS7

612834 PLECKSTRIN HOMOLOGY-LIKE DOMAIN, FAMILY B, MEMBER 1; PHLDB1

Clinical Synopsis for 612776 HYPOGLOSSIA WITH SITUS INVERSUS

Clinical Synopsis for 612782 IMMUNE DYSFUNCTION WITH T-CELL INACTIVATION DUE TO CALCIUM ENTRY DEFECT

Clinical Synopsis for 612798 QUESTION MARK EARS, ISOLATED

Changed Entries:

125265 RECEPTOR EXPRESSION-ENHANCING PROTEIN 5; REEP5

142800 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS I, A; HLA-A

142850 MOVED TO 142860

142857 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DR BETA-1; HLA-DRB1

142858 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DP BETA-1; HLA-DPB1

142860 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DR ALPHA; HLA-DRA

142880 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DP ALPHA-1; HLA-DPA1

146880 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DQ ALPHA-1; HLA-DQA1

157860 MOVED TO 142860

176680 MOVED TO 142880

300096 TRANSMEMBRANE 4 SUPERFAMILY, MEMBER 2; TM4SF2

300210 MENTAL RETARDATION, X-LINKED 58; MRX58

601045 CATENIN, DELTA-1; CTNND1

601804 TRANSCRIPTION FACTOR Sp3; SP3

601922 ANGIOPOIETIN 2; ANGPT2

601937 NUCLEAR RECEPTOR COACTIVATOR 3; NCOA3

602680 RHO GTPase-ACTIVATING PROTEIN 5; ARHGAP5

602942 ECOTROPIC VIRAL INTEGRATION SITE 5; EVI5

603599 CASP8- AND FADD-LIKE APOPTOSIS REGULATOR; CFLAR

604475 RETICULON 4; RTN4

604672 CD209 ANTIGEN; CD209

605101 MITOGEN-ACTIVATED PROTEIN KINASE KINASE KINASE 7-INTERACTING PROTEIN

605129 PROTEASOME ACTIVATOR SUBUNIT 3; PSME3

606013 F-BOX ONLY PROTEIN 5; FBXO5

606409 ITCHY, MOUSE, HOMOLOG OF; ITCH

606787 PERIPHERAL ARTERIAL OCCLUSIVE DISEASE 1

607558 SEC14-LIKE 2; SEC14L2

607776 SIN3, YEAST, HOMOLOG OF, A; SIN3A

609669 WD REPEAT-CONTAINING PROTEIN 36; WDR36

611532 NUCLEOLAR PROTEIN 6; NOL6

611998 cAMP RESPONSIVE ELEMENT-BINDING PROTEIN 3-LIKE 3; CREB3L3

612052 LUNG CANCER SUSCEPTIBILITY 2; LNCR2

612127 17-@BETA-HYDROXYSTEROID DEHYDROGENASE XIII; HSD17B13

612798 QUESTION MARK EARS, ISOLATED

Clinical Synopsis for 100300 ADAMS-OLIVER SYNDROME; AOS

Clinical Synopsis for 602629 DYSTONIA 6, TORSION; DYT6

Clinical Synopsis for 610765 ICHTHYOSIS WITH HYPOTRICHOSIS, AUTOSOMAL RECESSIVE

May 28, 2009

New Entries:

612806 G PROTEIN-COUPLED RECEPTOR 89B; GPR89B

612816 UTP18, S. CEREVISIAE, HOMOLOG OF; UTP18

612817 KRR1, YEAST, HOMOLOG OF; KRR1

612818 NUCLEOLAR AND SPINDLE-ASSOCIATED PROTEIN 1; NUSAP1

612819 NUCLEOLAR COMPLEX-ASSOCIATED PROTEIN 4, S. CEREVISIAE, HOMOLOG OF;

612820 NEUROPLASTIN; NPTN

612821 G PROTEIN-COUPLED RECEPTOR 89A; GPR89A

612822 UTP20, S. CEREVISIAE, HOMOLOG OF; UTP20

Clinical Synopsis for 612379 COLOBOMA, OCULAR, AND ICHTHYOSIS, BRAIN MALFORMATIONS, AND ENDOCRINE

Changed Entries:

102200 PITUITARY ADENOMA, GROWTH HORMONE-SECRETING

106180 ANGIOTENSIN I-CONVERTING ENZYME; ACE

114760 CARBONIC ANHYDRASE IV; CA4

117800 EAR WAX, WET/DRY

120500 COMMISSURAL LIP PITS

125520 CAYLER CARDIOFACIAL SYNDROME

125570 DERMATOGLYPHICS--ARCH ON ANY DIGIT

142800 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS I, A; HLA-A

158105 CHEMOKINE, CC MOTIF, LIGAND 2; CCL2

159900 MYOCLONIC DYSTONIA

162400 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE I; HSAN1

171790 PHOSPHATASE, PROSTATE-SPECIFIC ACID; ACPP

177050 PROTRUSIO ACETABULI

180710 SMALL NUCLEOLAR RNA, C/D BOX, 3A; SNORD3A

185900 SYNDACTYLY, TYPE I

193003 NYSTAGMUS 4, CONGENITAL, AUTOSOMAL DOMINANT; NYS4

236670 WALKER-WARBURG SYNDROME; WWS

276400 TWINNING, DIZYGOTIC

300005 METHYL-CpG-BINDING PROTEIN 2; MECP2

300041 GUANYLATE CYCLASE 2F, RETINAL; GUCY2F

300531 SPROUTY, DROSOPHILA, HOMOLOG OF, 3; SPRY3

309900 MUCOPOLYSACCHARIDOSIS TYPE II

600179 GUANYLATE CYCLASE 2D, MEMBRANE; GUCY2D

600275 NOTCH, DROSOPHILA, HOMOLOG OF, 2; NOTCH2

601138 GUANYLATE CYCLASE 2E; GUCY2E

601543 DEAFNESS, AUTOSOMAL DOMINANT 12; DFNA12

601843 SOLUTE CARRIER FAMILY 5 (SODIUM IODIDE SYMPORTER), MEMBER 5; SLC5A5

602465 SPROUTY, DROSOPHILA, HOMOLOG OF, 1; SPRY1

602466 SPROUTY, DROSOPHILA, HOMOLOG OF, 2; SPRY2

602561 BRACHYDACTYLY, INTRAVENTRICULAR SEPTAL DEFECT, AND DEAFNESS

602661 TUBULIN, BETA-3; TUBB3

604124 RETINOBLASTOMA-BINDING PROTEIN 8; RBBP8

605204 TORSIN-A; DYT1

605209 CHECKPOINT PROTEIN WITH FHA AND RING FINGER DOMAINS; CHFR

605712 SERINE PALMITOYLTRANSFERASE, LONG-CHAIN BASE SUBUNIT 1; SPTLC1

606149 FATTY ACID DESATURASE 2; FADS2

606681 NUCLEAR RECEPTOR-BINDING Su-var, ENHANCER OF ZESTE, AND TRITHORAX

607301 PRECURSOR mRNA-PROCESSING FACTOR 3, S. CEREVISIAE, HOMOLOG OF; PRPF3

607948 MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO

607984 SPROUTY, DROSOPHILA, HOMOLOG OF, 4; SPRY4

608372 DEAFNESS, AUTOSOMAL DOMINANT 49; DFNA49

609007 LEUCINE-RICH REPEAT KINASE 2; LRRK2

611913 AUTISM, SUSCEPTIBILITY TO, 14; AUTS14

612379 COLOBOMA, OCULAR, AND ICHTHYOSIS, BRAIN MALFORMATIONS, AND ENDOCRINE

612790 RGNEF, MOUSE, HOMOLOG OF

612791 ZINC FINGER PROTEIN WITH KRAB AND SCAN DOMAINS 3; ZKSCAN3

612792 PHOSPHATIDYLSERINE SYNTHASE 1; PTDSS1

612793 PHOSPHATIDYLSERINE SYNTHASE 2; PTDSS2

Clinical Synopsis for 164300 OCULOPHARYNGEAL MUSCULAR DYSTROPHY; OPMD

Clinical Synopsis for 272800 TAY-SACHS DISEASE; TSD

Clinical Synopsis for 600142 CEREBRAL AUTOSOMAL RECESSIVE ARTERIOPATHY WITH SUBCORTICAL INFARCTS

May 26, 2009

New Entries:

612807 LEUCINE-RICH REPEAT AND FIBRONECTIN TYPE III DOMAIN-CONTAINING PROTEIN

612808 LEUCINE-RICH REPEAT AND FIBRONECTIN TYPE III DOMAIN-CONTAINING PROTEIN

612809 LEUCINE-RICH REPEAT AND FIBRONECTIN TYPE III DOMAIN-CONTAINING PROTEIN

612810 LEUCINE-RICH REPEAT AND FIBRONECTIN TYPE III DOMAIN-CONTAINING PROTEIN

612811 LEUCINE-RICH REPEAT AND FIBRONECTIN TYPE III DOMAIN-CONTAINING PROTEIN

612812 PROFILIN 3; PFN3

612813 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, AGGRECAN TYPE

612814 SPERMATOGENESIS-ASSOCIATED PROTEIN 18; SPATA18

612815 ZINC FINGER DHHC DOMAIN-CONTAINING PROTEIN 13; ZDHHC13

Changed Entries:

108960 NATRIURETIC PEPTIDE RECEPTOR A/GUANYLATE CYCLASE A; NPR1

121014 GAP JUNCTION PROTEIN, ALPHA-1; GJA1

155760 AGGRECAN; ACAN

164200 OCULODENTODIGITAL DYSPLASIA; ODDD

245160 KNIEST-LIKE DYSPLASIA WITH PURSED LIPS AND ECTOPIA LENTIS

253010 MORQUIO SYNDROME B

257850 OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE

300041 GUANYLATE CYCLASE 2F, RETINAL; GUCY2F

600179 GUANYLATE CYCLASE 2D, MEMBRANE; GUCY2D

600783 HISTIDYL-tRNA SYNTHETASE 2; HARS2

601137 MOVED TO 601138

601138 GUANYLATE CYCLASE 2E; GUCY2E

604544 LEUCYL-tRNA SYNTHETASE 2; LARS2

604733 TRYPTOPHANYL-tRNA SYNTHETASE 2; WARS2

607799 ZINC FINGER DHHC DOMAIN-CONTAINING PROTEIN 17; ZDHHC17

609728 METHIONYL-tRNA SYNTHETASE 2; MARS2

610956 ASPARTYL-tRNA SYNTHETASE 2; DARS2

610957 TYROSYL-tRNA SYNTHETASE 2; YARS2

611592 PHENYLALANYL-tRNA SYNTHETASE 2, MITOCHONDRIAL; FARS2

May 22, 2009

New Entries:

612798 QUESTION MARK EARS, ISOLATED

612799 GLUTAMYL-tRNA SYNTHETASE 2; EARS2

612800 CYSTEINYL-tRNA SYNTHETASE 2; CARS2

612801 ISOLEUCYL-tRNA SYNTHETASE 2; IARS2

612802 VALYL-tRNA SYNTHETASE 2; VARS2

612803 ASPARAGINYL-tRNA SYNTHETASE 2; NARS2

612804 SERYL-tRNA SYNTHETASE 2; SARS2

612805 THREONYL-tRNA SYNTHETASE 2; TARS2

Changed Entries:

100800 ACHONDROPLASIA; ACH

141800 HEMOGLOBIN--ALPHA LOCUS 1; HBA1

141900 HEMOGLOBIN--BETA LOCUS; HBB

147440 INSULIN-LIKE GROWTH FACTOR I; IGF1

151670 LIPASE, HEPATIC; LIPC

164761 REARRANGED DURING TRANSFECTION PROTOONCOGENE; RET

200700 CHONDRODYSPLASIA, GREBE TYPE

602483 AURICULOCONDYLAR SYNDROME

605225 INFLAMMATORY BOWEL DISEASE 7; IBD7

608940 SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY

612782 IMMUNE DYSFUNCTION WITH T-CELL INACTIVATION DUE TO CALCIUM ENTRY DEFECT

612785 MEGARBANE-JALKH SYNDROME

612797 HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS

612800 CYSTEINYL-tRNA SYNTHETASE 2; CARS2

May 21, 2009

New Entries:

612796 INFLAMMATORY BOWEL DISEASE 27; IBD27

612797 INFLAMMATORY BOWEL DISEASE 28; IBD28

Changed Entries:

107000 ANONYCHIA-ONYCHODYSTROPHY

111150 BLOOD GROUP--LUTHERAN INHIBITOR; INLU

119800 CLUBFOOT, CONGENITAL; CCF

119900 DIGITAL CLUBBING, ISOLATED CONGENITAL

126200 MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO; MS

134797 FIBRILLIN 1; FBN1

139100 GRAYING OF HAIR, PRECOCIOUS

142800 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS I, A; HLA-A

142880 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DP ALPHA-1; HLA-DPA1

146110 HYPOGONADOTROPIC HYPOGONADISM

147791 JACOBSEN SYNDROME; JBS

178600 PULMONARY HYPERTENSION, PRIMARY, 1; PPH1

186855 T-CELL ACUTE LYMPHOCYTIC LEUKEMIA 2; TAL2

191190 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 1A; TNFRSF1A

256800 INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS; CIPA

260400 SHWACHMAN-DIAMOND SYNDROME; SDS

261800 PIERRE ROBIN SYNDROME

300592 CANCER/TESTIS ANTIGEN FAMILY 47, MEMBER A11; CT47A11

602629 DYSTONIA 6, TORSION; DYT6

603599 CASP8- AND FADD-LIKE APOPTOSIS REGULATOR; CFLAR

603711 CYTOCHROME P450, FAMILY 7, SUBFAMILY B, POLYPEPTIDE 1; CYP7B1

606365 GLUTAMINASE, LIVER; GLS2

607017 DEAFNESS, AUTOSOMAL DOMINANT 21; DFNA21

607924 METASTASIS-ASSOCIATED LUNG ADENOCARCINOMA TRANSCRIPT 1; MALAT1

609139 RECEPTOR EXPRESSION-ENHANCING PROTEIN 1; REEP1

609678 SLIT- AND NTRK-LIKE FAMILY, MEMBER 1; SLITRK1

609706 DEAFNESS, AUTOSOMAL RECESSIVE 53; DFNB53

610250 SPASTIC PARAPLEGIA 31, AUTOSOMAL DOMINANT; SPG31

610569 UBIQUITIN-SPECIFIC PROTEASE 24; USP24

611058 PEROXISOME BIOGENESIS FACTOR 5-LIKE; PEX5L

611114 MICRO RNA 150; MIR150

611170 STERILE ALPHA MOTIF DOMAIN-CONTAINING 9-LIKE; SAMD9L

611904 CHROMOSOME 11 OPEN READING FRAME 34; C11ORF34

612740 PORPHYRIA, ACUTE HEPATIC

612759 SYNESTHESIA

612768 FOLLICULIN-INTERACTING PROTEIN 2; FNIP2

612769 NONCODING RNA 84; NCRNA00084

612770 PHOSPHATIDYLSERINE DECARBOXYLASE; PISD

612771 DUAL OXIDASE MATURATION FACTOR 1; DUOXA1

612772 DUAL OXIDASE MATURATION FACTOR 2; DUOXA2

612778 SET DOMAIN-CONTAINING PROTEIN 2; SETD2

612779 DIHYDROPYRIMIDINE DEHYDROGENASE; DPYD

612780 SEIZURES, SENSORINEURAL DEAFNESS, ATAXIA, MENTAL RETARDATION, AND

612782 IMMUNE DYSFUNCTION WITH T-CELL INACTIVATION DUE TO CALCIUM ENTRY DEFECT

612783 IMMUNE DYSFUNCTION WITH T-CELL INACTIVATION DUE TO CALCIUM ENTRY DEFECT

612784 HUNTINGTIN-INTERACTING PROTEIN K

612786 CYCLIN Y; CCNY

612787 PSEUDOURIDYLATE SYNTHASE 10; PUS10

612788 FORKHEAD BOX Q1; FOXQ1

612797 INFLAMMATORY BOWEL DISEASE 28; IBD28

Clinical Synopsis for 605472 USHER SYNDROME, TYPE IIC; USH2C

May 20, 2009

New Entries:

612794 ATRIAL SEPTAL DEFECT 5; ASD5

Changed Entries:

100100 ABDOMINAL MUSCLES, ABSENCE OF, WITH URINARY TRACT ABNORMALITY AND

102540 ACTIN, ALPHA, CARDIAC MUSCLE; ACTC1

106180 ANGIOTENSIN I-CONVERTING ENZYME; ACE

108800 ATRIAL SEPTAL DEFECT 1; ASD1

121014 GAP JUNCTION PROTEIN, ALPHA-1; GJA1

139210 GROWTH-MENTAL DEFICIENCY SYNDROME OF MYHRE

158000 MONILETHRIX

164200 OCULODENTODIGITAL DYSPLASIA; ODDD

180069 RETINAL PIGMENT EPITHELIUM-SPECIFIC PROTEIN, 65-KD; RPE65

186100 SYNDACTYLY, TYPE III

192445 VENTRICULAR EXTRASYSTOLES WITH SYNCOPE, PERODACTYLY, AND ROBIN SEQUENCE

204200 CEROID LIPOFUSCINOSIS, NEURONAL, 3; CLN3

256700 NEUROBLASTOMA

257850 OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE

306700 HEMOPHILIA A

600599 KRUPPEL-LIKE FACTOR 1; KLF1

600795 FRONTOTEMPORAL DEMENTIA, CHROMOSOME 3-LINKED; FTD3

601452 OCULOAURICULOFRONTONASAL SYNDROME; OAFNS

601928 KERATIN 86; KRT86

602942 ECOTROPIC VIRAL INTEGRATION SITE 5; EVI5

607042 CLN3 GENE; CLN3

607941 ATRIAL SEPTAL DEFECT 2; ASD2

609512 CHMP FAMILY, MEMBER 2B; CHMP2B

611363 ATRIAL SEPTAL DEFECT 4; ASD4

612740 PORPHYRIA, ACUTE HEPATIC

612793 PHOSPHATIDYLSERINE SYNTHASE 2; PTDSS2

612794 ATRIAL SEPTAL DEFECT 5; ASD5

May 19, 2009

New Entries:

612790 RGNEF, MOUSE, HOMOLOG OF

612791 ZINC FINGER PROTEIN WITH KRAB AND SCAN DOMAINS 3; ZKSCAN3

612792 PHOSPHATIDYLSERINE SYNTHASE 1; PTDSS1

612793 PHOSPHATIDYLSERINE SYNTHASE 2; PTDSS2

Clinical Synopsis for 605714 CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED

Changed Entries:

103780 ALCOHOL DEPENDENCE

104311 PRESENILIN 1; PSEN1

119900 DIGITAL CLUBBING, ISOLATED CONGENITAL

127000 KENNY-CAFFEY SYNDROME, TYPE 2

146510 PALLISTER-HALL SYNDROME; PHS

147545 INSULIN RECEPTOR SUBSTRATE 1; IRS1

147557 INTEGRIN, BETA-4; ITGB4

151600 LEUKONYCHIA TOTALIS

162280 NEUROFILAMENT PROTEIN, LIGHT POLYPEPTIDE; NEFL

164200 OCULODENTODIGITAL DYSPLASIA; ODDD

173391 PLASMINOGEN ACTIVATOR RECEPTOR, UROKINASE-TYPE; PLAUR

186100 SYNDACTYLY, TYPE III

192350 VATER ASSOCIATION

215700 CITRULLINEMIA, CLASSIC

244460 KENNY-CAFFEY SYNDROME, TYPE 1; KCS1

245349 PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY

257850 OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE

261800 PIERRE ROBIN SYNDROME

305645 MOVED TO 136760

600086 ALCOHOL DEHYDROGENASE 7; ADH7

602253 KRUPPEL-LIKE FACTOR 4; KLF4

603470 ARGININOSUCCINATE SYNTHETASE; ASS

605046 UBIQUILIN 1; UBQLN1

605704 VESICLE-ASSOCIATED MEMBRANE PROTEIN-ASSOCIATED PROTEIN B; VAPB

605921 STROMAL INTERACTION MOLECULE 1; STIM1

606667 LEUCINE-RICH REPEAT-CONTAINING G PROTEIN-COUPLED RECEPTOR 5; LGR5

608576 GRAINYHEAD-LIKE 2; GRHL2

608582 EPIDERMAL GROWTH FACTOR-LIKE 7; EGFL7

608641 DEAFNESS, AUTOSOMAL DOMINANT 28; DFNA28

609065 MOVED TO 605714

610277 TRANSMEMBRANE PROTEIN 142A; TMEM142A

611643 ZINC FINGER PROTEIN WITH KRAB AND SCAN DOMAINS 4; ZKSCAN4

611767 MICRO RNA 126; MIR126

612448 AGE-RELATED HEARING IMPAIRMENT 1; ARHI1

612792 PHOSPHATIDYLSERINE SYNTHASE 1; PTDSS1

Clinical Synopsis for 241410 HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME; HRD

Clinical Synopsis for 305645 MOVED TO 136760

Clinical Synopsis for 601808 CHROMOSOME 18q DELETION SYNDROME

Clinical Synopsis for 608641 DEAFNESS, AUTOSOMAL DOMINANT 28; DFNA28

Clinical Synopsis for 609065 MOVED TO 605714

May 18, 2009

New Entries:

612740 PORPHYRIA, ACUTE HEPATIC

612776 HYPOGLOSSIA WITH SITUS INVERSUS

612777 HYPOTONIA, SEIZURES, AND PRECOCIOUS PUBERTY

612780 SEIZURES, SENSORINEURAL DEAFNESS, ATAXIA, MENTAL RETARDATION, AND

612782 IMMUNE DYSFUNCTION WITH T-CELL INACTIVATION DUE TO CALCIUM ENTRY DEFECT

612783 IMMUNE DYSFUNCTION WITH T-CELL INACTIVATION DUE TO CALCIUM ENTRY DEFECT

Changed Entries:

103300 HYPOGLOSSIA-HYPODACTYLIA

103580 PSEUDOHYPOPARATHYROIDISM, TYPE IA; PHP1A

107470 INTERFERON, GAMMA, RECEPTOR 1; IFNGR1

119900 DIGITAL CLUBBING, ISOLATED CONGENITAL

125270 DELTA-AMINOLEVULINATE DEHYDRATASE; ALAD

127000 KENNY-CAFFEY SYNDROME, TYPE 2

143890 HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT

147570 INTERFERON, GAMMA; IFNG

167100 HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL DOMINANT

171000 PEYRONIE DISEASE

179613 RECOMBINANT CHROMOSOME 8 SYNDROME

181750 SCLERODERMA, FAMILIAL PROGRESSIVE

189990 V-MYB AVIAN MYELOBLASTOSIS VIRAL ONCOGENE HOMOLOG; MYB

219150 CUTIS LAXA, CORNEAL CLOUDING, AND MENTAL RETARDATION

255980 NASODIGITOACOUSTIC SYNDROME

266265 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIc; CDG2C

274270 DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY

300592 CANCER/TESTIS ANTIGEN FAMILY 47, MEMBER A11; CT47A11

313650 TAF1 RNA POLYMERASE II, TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR,

600492 NUCLEAR FACTOR ERYTHROID 2-LIKE 2; NFE2L2

601688 15-@HYDROXYPROSTAGLANDIN DEHYDROGENASE; HPGD

601742 TRIPARTITE MOTIF-CONTAINING PROTEIN 28; TRIM28

602208 POTASSIUM CHANNEL, INWARDLY RECTIFYING, SUBFAMILY J, MEMBER 10; KCNJ10

603233 PSEUDOHYPOPARATHYROIDISM, TYPE IB; PHP1B

603377 SOLUTE CARRIER FAMILY 22 (ORGANIC CATION TRANSPORTER), MEMBER 5; SLC22A5

605881 SOLUTE CARRIER FAMILY 35, MEMBER C1; SLC35C1

605921 STROMAL INTERACTION MOLECULE 1; STIM1

606576 TAF3 RNA POLYMERASE II, TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR,

606945 LOW DENSITY LIPOPROTEIN RECEPTOR; LDLR

607948 MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO

610277 TRANSMEMBRANE PROTEIN 142A; TMEM142A

611114 MICRO RNA 150; MIR150

612732 COPROPORPHYRINOGEN OXIDASE; CPOX

612777 HYPOTONIA, SEIZURES, AND PRECOCIOUS PUBERTY

612779 DIHYDROPYRIMIDINE DEHYDROGENASE; DPYD

612782 IMMUNE DYSFUNCTION WITH T-CELL INACTIVATION DUE TO CALCIUM ENTRY DEFECT

612783 IMMUNE DYSFUNCTION WITH T-CELL INACTIVATION DUE TO CALCIUM ENTRY DEFECT

Clinical Synopsis for 603233 PSEUDOHYPOPARATHYROIDISM, TYPE IB; PHP1B

May 15, 2009

New Entries:

612779 DIHYDROPYRIMIDINE DEHYDROGENASE; DPYD

612786 CYCLIN Y; CCNY

612787 PSEUDOURIDYLATE SYNTHASE 10; PUS10

612788 FORKHEAD BOX Q1; FOXQ1

Changed Entries:

107450 INTERFERON, ALPHA, BETA, AND OMEGA, RECEPTOR 1; IFNAR1

134370 COMPLEMENT FACTOR H; CFH

147583 INTERFERON, ALPHA-17; IFNA17

155555 MELANOCORTIN 1 RECEPTOR; MC1R

163729 NITRIC OXIDE SYNTHASE 3; NOS3

212140 CARNITINE DEFICIENCY, SYSTEMIC PRIMARY; CDSP

220210 DANDY-WALKER-LIKE MALFORMATION WITH ATRIOVENTRICULAR SEPTAL DEFECT

239710 ACROFRONTOFACIONASAL DYSOSTOSIS 2

274270 DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY

278850 XX MALE SYNDROME

600541 ETS VARIANT GENE 1; ETV1

601090 FORKHEAD BOX C1; FOXC1

602482 AXENFELD-RIEGER SYNDROME, TYPE 3; RIEG3

602628 FORKHEAD BOX N3; FOXN3

602925 PHOSPHATIDYLINOSITOL 3-KINASE, CATALYTIC, BETA; PIK3CB

603055 SKI-INTERACTING PROTEIN; SKIIP

603377 SOLUTE CARRIER FAMILY 22 (ORGANIC CATION TRANSPORTER), MEMBER 5; SLC22A5

603504 CELL DIVISION CYCLE 14, S. CEREVISIAE, HOMOLOG A; CDC14A

604970 AURORA KINASE B; AURKB

606611 DEFENSIN, BETA, 103A; DEFB103A

610051 CHMP FAMILY, MEMBER 4A; CHMP4A

610901 CHMP FAMILY, MEMBER 6; CHMP6

610966 FAT MASS- AND OBESITY-ASSOCIATED GENE; FTO

612205 AUTOPHAGY 9, S. CEREVISIAE, HOMOLOG OF, B; ATG9B

May 14, 2009

New Entries:

612785 MEGARBANE-JALKH SYNDROME

Clinical Synopsis for 612651 ENDOCRINE-CEREBROOSTEODYSPLASIA; ECO

Changed Entries:

108961 NATRIURETIC PEPTIDE RECEPTOR B/GUANYLATE CYCLASE B; NPR2

126200 MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO; MS

133170 ERYTHROPOIETIN; EPO

138248 GLUTAMATE RECEPTOR, IONOTROPIC, AMPA 1; GRIA1

147264 INOSITOL POLYPHOSPHATE-5-PHOSPHATASE, 75-KD; INPP5B

155555 MELANOCORTIN 1 RECEPTOR; MC1R

186930 T-CELL ANTIGEN RECEPTOR, BETA SUBUNIT; TCRB

201180 ACROFRONTOFACIONASAL DYSOSTOSIS 1

229400 FRONTOFACIONASAL DYSPLASIA

239710 ACROFRONTOFACIONASAL DYSOSTOSIS 2

261600 PHENYLKETONURIA; PKU

300394 TAFAZZIN; TAZ

600274 FRONTOTEMPORAL DEMENTIA; FTD

600716 PROTEIN TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 22; PTPN22

600810 PHOSPHOLIPASE C, BETA-4; PLCB4

602382 PHOSPHOLIPASE D1, PHOSPHATIDYLCHOLINE-SPECIFIC; PLD1

602739 PROTEIN KINASE, AMP-ACTIVATED, CATALYTIC, ALPHA-1; PRKAA1

603025 PHOSPHATIDYLINOSITOL-BINDING CLATHRIN ASSEMBLY PROTEIN; PICALM

603377 SOLUTE CARRIER FAMILY 22 (ORGANIC CATION TRANSPORTER), MEMBER 5; SLC22A5

603962 RAS GUANYL NUCLEOTIDE-RELEASING PROTEIN 1; RASGRP1

604479 SIRTUIN 1; SIRT1

604909 CCR4-NOT TRANSCRIPTION COMPLEX, SUBUNIT 2; CNOT2

605241 LYMPHOCYTE ANTIGEN 86; LY86

605613 HUNTINGTIN-INTERACTING PROTEIN 1-RELATED PROTEIN; HIP1R

605953 DEVELOPMENT- AND DIFFERENTIATION-ENHANCING FACTOR 1; DDEF1

606869 HEXOSAMINIDASE A; HEXA

607262 EPSIN 1; EPN1

607412 PALATE, LUNG, AND NASAL EPITHELIUM CARCINOMA-ASSOCIATED PROTEIN; PLUNC

608940 SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY

609214 SEC61 COMPLEX, BETA SUBUNIT; SEC61B

609654 SHORT STATURE AND FACIOAURICULOTHORACIC MALFORMATIONS

609758 Na+/K+ TRANSPORTING ATPase-INTERACTING PROTEIN 2; NKAIP2

611228 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J; CMT4J

611287 CORNICHON, DROSOPHILA, HOMOLOG OF; CNIH

611288 CORNICHON, DROSOPHILA, HOMOLOG OF, 2; CNIH2

612724 ALDOLASE B, FRUCTOSE-BISPHOSPHATE; ALDOB

Clinical Synopsis for 115300 HYPERCAROTENEMIA AND VITAMIN A DEFICIENCY, AUTOSOMAL DOMINANT

Clinical Synopsis for 191160 TUMOR NECROSIS FACTOR; TNF

Clinical Synopsis for 205400 TANGIER DISEASE; TGD

Clinical Synopsis for 246700 CHYLOMICRON RETENTION DISEASE; CMRD

Clinical Synopsis for 256600 NEUROAXONAL DYSTROPHY, INFANTILE; INAD1

Clinical Synopsis for 259100 HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE

Clinical Synopsis for 263630 POLYSYNDACTYLY WITH CARDIAC MALFORMATION

Clinical Synopsis for 304050 AICARDI SYNDROME; AIC

Clinical Synopsis for 309000 LOWE OCULOCEREBRORENAL SYNDROME; OCRL

Clinical Synopsis for 602629 DYSTONIA 6, TORSION; DYT6

Clinical Synopsis for 607855 MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, 1A; MDC1A

Clinical Synopsis for 611603 LISSENCEPHALY 3; LIS3

May 13, 2009

New Entries:

612784 HUNTINGTIN-INTERACTING PROTEIN K

Clinical Synopsis for 603671 ACROMELIC FRONTONASAL DYSOSTOSIS

Changed Entries:

103500 TIETZ SYNDROME

115197 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4; CMH4

124092 INTERLEUKIN 10; IL10

136900 FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY; SFD

153337 LYMPHOCYTE ACTIVATION GENE 3; LAG3

156845 MICROPHTHALMIA-ASSOCIATED TRANSCRIPTION FACTOR; MITF

167320 INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL

167416 PAIRED BOX GENE 9; PAX9

181500 SCHIZOPHRENIA; SCZD

181510 SCHIZOPHRENIA 1; SCZD1

182330 ATPase, Na+/K+ TRANSPORTING, BETA-1 POLYPEPTIDE; ATP1B1

186880 T-CELL ANTIGEN RECEPTOR, ALPHA SUBUNIT; TCRA

188826 TISSUE INHIBITOR OF METALLOPROTEINASE 3; TIMP3

189963 GENERAL TRANSCRIPTION FACTOR IIB; GTF2B

214800 CHARGE SYNDROME

219700 CYSTIC FIBROSIS; CF

229050 FOLATE MALABSORPTION, HEREDITARY

231300 GLAUCOMA 3, PRIMARY CONGENITAL, A; GLC3A

300392 WAS GENE; WAS

300771 TRANSCRIPTION ELONGATION FACTOR A-LIKE 7; TCEAL7

300772 TRANSCRIPTION FACTOR DP FAMILY, MEMBER 3; TFDP3

300773 APEX NUCLEASE (APURINIC/APYRIMIDINIC ENDONUCLEASE) 2; APEX2

301000 WISKOTT-ALDRICH SYNDROME; WAS

600354 SURVIVAL OF MOTOR NEURON 1, TELOMERIC; SMN1

600726 INDIAN HEDGEHOG; IHH

600958 MYOSIN-BINDING PROTEIN C, CARDIAC; MYBPC3

601023 VALOSIN-CONTAINING PROTEIN; VCP

601081 ATP-BINDING CASSETTE, SUBFAMILY 3, MEMBER 2; ABCD2

601309 PATCHED, DROSOPHILA, HOMOLOG OF, 1; PTCH1

601767 HUNTINGTIN-INTERACTING PROTEIN 1; HIP1

601771 CYTOCHROME P450, SUBFAMILY I, POLYPEPTIDE 1; CYP1B1

601973 RETINOIC ACID RECEPTOR RESPONDER 2; RARRES2

602208 POTASSIUM CHANNEL, INWARDLY RECTIFYING, SUBFAMILY J, MEMBER 10; KCNJ10

602390 HEMOCHROMATOSIS, JUVENILE; JH

602539 MITOGEN-ACTIVATED KINASE KINASE KINASE 3; MAP3K3

603030 TOLL-LIKE RECEPTOR 4; TLR4

603135 CULLIN 2; CUL2

603175 SCHIZOPHRENIA 5; SCZD5

603234 ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 6; ABCC6

603502 INTERFERON-RELATED DEVELOPMENTAL REGULATOR 1; IFRD1

603671 ACROMELIC FRONTONASAL DYSOSTOSIS

603790 SOLUTE CARRIER FAMILY 23 (NUCLEOBASE TRANSPORTER), MEMBER 1; SLC23A1

603791 SOLUTE CARRIER FAMILY 23 (NUCLEOBASE TRANSPORTER), MEMBER 2; SLC23A2

604407 LEUCINE ZIPPER/EF-HAND-CONTAINING TRANSMEMBRANE PROTEIN 1; LETM1

604625 TOOTH AGENESIS, SELECTIVE, 3; STHAG3

604906 SCHIZOPHRENIA 9; SCZD9

605243 LYMPHOCYTE ANTIGEN 96; LY96

605474 TOLL-LIKE RECEPTOR 9; TLR9

605597 FORKHEAD TRANSCRIPTION FACTOR FOXL2; FOXL2

606178 HEDGEHOG-INTERACTING PROTEIN; HHIP

606201 WFS1 GENE; WFS1

606576 TAF3 RNA POLYMERASE II, TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR,

606797 SUPPRESSION OF TUMORIGENICITY 14; ST14

607060 PARKINSON DISEASE 8; PARK8

607239 DEAFNESS, AUTOSOMAL RECESSIVE 33; DFNB33

607301 PRECURSOR mRNA-PROCESSING FACTOR 3, S. CEREVISIAE, HOMOLOG OF; PRPF3

607333 STE20-RELATED KINASE ADAPTOR BETA; STRADB

608374 HEMOJUVELIN

608626 STE20-RELATED KINASE ADAPTOR ALPHA; STRADA

609007 LEUCINE-RICH REPEAT KINASE 2; LRRK2

609065 MOVED TO 605714

610070 ASTER-ASSOCIATED PROTEIN

610562 ZINC FINGER CCCH DOMAIN-CONTAINING PROTEIN 12A; ZC3H12A

610765 ICHTHYOSIS WITH HYPOTRICHOSIS, AUTOSOMAL RECESSIVE

610918 SELENOPROTEIN M

611020 MICRO RNA 21; MIR21

611087 POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY; PMSE

612005 CELIAC DISEASE, SUSCEPTIBILITY TO, 7; CELIAC7

612144 MICRO RNA LET7C; MIRLET7C

612224 STATURE QUANTITATIVE TRAIT LOCUS 12; STQTL12

612713 KAHRIZI SYNDROME

612715 DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 2; DUH2

612733 THO COMPLEX 5; THOC5

612735 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DR BETA-3; HLA-DRB3

612737 STATURE QUANTITATIVE TRAIT LOCUS 17; STQTL17

612739 SPERM ACROSOME-ASSOCIATED 1; SPACA1

612741 SNAIL, DROSOPHILA, HOMOLOG OF, 3; SNAI3

612742 MICRO RNA 181A1; MIR181A1

612743 MICRO RNA 181A2; MIR181A2

612744 MICRO RNA 181B1; MIR181B1

612745 MICRO RNA 181B2; MIR181B2

612746 MICRO RNA 181C; MIR181C

612747 TUFTELIN-INTERACTING PROTEIN 11; TFIP11

612748 LYSOZYME-LIKE 2; LYZL2

612749 SPERM ACROSOME-ASSOCIATED 3; SPACA3

612750 LYSOZYME-LIKE 4; LYZL4

612751 LYSOZYME-LIKE 6; LYZL6

612752 CXXC FINGER PROTEIN 5; CXXC5

612753 COLLAGEN AND CALCIUM-BINDING EGF DOMAIN-CONTAINING PROTEIN 1; CCBE1

612754 GLUTAREDOXIN 3; GLRX3

612755 MITOCHONDRIAL DISTRIBUTION AND MORPHOLOGY 20, YEAST, HOMOLOG OF

612756 TESTICULAR CELL ADHESION MOLECULE 1; TCAM1

612757 GLYCOSYLPHOSPHATIDYLINOSITOL-ANCHORED HIGH DENSITY LIPOPROTEIN-BINDING

612758 TRANSMEMBRANE ANTERIOR POSTERIOR TRANSFORMATION 1; TAPT1

612759 SYNESTHESIA

612760 SNF-RELATED KINASE; SNRK

612761 SWI/SNF-RELATED, MATRIX-ASSOCIATED ACTIN-DEPENDENT REGULATOR OF CHROMATIN,

612762 SUPPRESSOR OF TY 7-LIKE; SUPT7L

612763 TRANSCRIPTIONAL ADAPTOR 1-LIKE; TADA1L

612764 ISY1 SPLICING FACTOR, S. CEREVISIAE, HOMOLOG OF; ISY1

612765 SFI1, YEAST, HOMOLOG OF; SFI1

612766 CHROMOSOME 19 OPEN READING FRAME 62; C19ORF62

May 12, 2009

Changed Entries:

136760 FRONTONASAL DYSPLASIA

142340 DIAPHRAGMATIC HERNIA, CONGENITAL

142445 NEUREGULIN 1; NRG1

143100 HUNTINGTON DISEASE; HD

147141 TRANSCRIPTION FACTOR 3; TCF3

158000 MONILETHRIX

162100 AMYOTROPHY, HEREDITARY NEURALGIC; HNA

162641 NEUROPEPTIDE Y RECEPTOR Y1; NPY1R

179551 V-RAL SIMIAN LEUKEMIA VIRAL ONCOGENE HOMOLOG B; RALB

180630 DEAD/H BOX 5; DDX5

191170 TUMOR PROTEIN p53; TP53

229400 FRONTOFACIONASAL DYSPLASIA

263630 POLYSYNDACTYLY WITH CARDIAC MALFORMATION

266600 INFLAMMATORY BOWEL DISEASE 1; IBD1

300672 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2

600142 CEREBRAL AUTOSOMAL RECESSIVE ARTERIOPATHY WITH SUBCORTICAL INFARCTS

600206 EPIDERMAL GROWTH FACTOR RECEPTOR PATHWAY SUBSTRATE 8; EPS8

600307 PROTEASOME SUBUNIT, BETA-TYPE, 6; PSMB6

600377 GALANIN RECEPTOR 1; GALR1

600543 V-ERB-B2 AVIAN ERYTHROBLASTIC LEUKEMIA VIRAL ONCOGENE HOMOLOG 4; ERBB4

600849 NUCLEAR RECEPTOR COREPRESSOR 1; NCOR1

601928 KERATIN 86; KRT86

602194 HTRA SERINE PEPTIDASE 1; HTRA1

602559 EXPORTIN 1; XPO1

603030 TOLL-LIKE RECEPTOR 4; TLR4

603671 ACROMELIC FRONTONASAL DYSOSTOSIS

604061 SEPTIN 9; SEPT9

604261 AUTOPHAGY 5, S. CEREVISIAE, HOMOLOG OF; ATG5

604666 MITOGEN-ACTIVATED PROTEIN KINASE KINASE KINASE KINASE 4; MAP4K4

604798 HOMER, DROSOPHILA, HOMOLOG OF, 1; HOMER1

604799 HOMER, DROSOPHILA, HOMOLOG OF, 2; HOMER2

604800 HOMER, DROSOPHILA, HOMOLOG OF, 3; HOMER3

604834 TANK-BINDING KINASE 1; TBK1

604999 SH3 AND MULTIPLE ANKYRIN REPEAT DOMAINS 1; SHANK1

605101 MITOGEN-ACTIVATED PROTEIN KINASE KINASE KINASE 7-INTERACTING PROTEIN

606152 SOLUTE CARRIER FAMILY 19 (FOLATE TRANSPORTER), MEMBER 3; SLC19A3

606598 GANGLIOSIDE-INDUCED DIFFERENTIATION-ASSOCIATED PROTEIN 1; GDAP1

607831 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K; CMT2K

607902 RNA, U TRANSPORTER 1; RNUT1

610767 AUTOPHAGY 16-LIKE 1; ATG16L1

611081 INFLAMMATORY BOWEL DISEASE 10; IBD10

612278 INFLAMMATORY BOWEL DISEASE 19; IBD19

May 11, 2009

Changed Entries:

107730 APOLIPOPROTEIN B; APOB

120435 LYNCH SYNDROME I

128100 DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT; DYT1

136760 FRONTONASAL DYSPLASIA

143100 HUNTINGTON DISEASE; HD

164210 HEMIFACIAL MICROSOMIA; HFM

164400 SPINOCEREBELLAR ATAXIA 1; SCA1

164730 V-AKT MURINE THYMOMA VIRAL ONCOGENE HOMOLOG 1; AKT1

171300 PHEOCHROMOCYTOMA

188550 THYROID CARCINOMA, PAPILLARY

191170 TUMOR PROTEIN p53; TP53

204500 CEROID LIPOFUSCINOSIS, NEURONAL, 2; CLN2

220150 HYPOURICEMIA, RENAL, 1; RHUC1

229400 FRONTOFACIONASAL DYSOSTOSIS

300035 EPHRIN B1; EFNB1

300451 ECTODYSPLASIN A; EDA

305100 ECTODERMAL DYSPLASIA, HYPOHIDROTIC, X-LINKED; XHED

305645 MOVED TO 136760

600825 RAR-RELATED ORPHAN RECEPTOR A; RORA

600974 DEAFNESS, AUTOSOMAL RECESSIVE 7; DFNB7

601409 HIV-1 TAT-INTERACTING PROTEIN; HTATIP

601452 OCULOAURICULOFRONTONASAL SYNDROME; OAFNS

601556 ATAXIN 1; ATXN1

602421 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR

603022 E4F TRANSCRIPTION FACTOR 1; E4F1

603671 ACROMELIC FRONTONASAL DYSOSTOSIS

604517 PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-GAMMA, COACTIVATOR 1, ALPHA;

605646 SOLUTE CARRIER FAMILY 26, MEMBER 4; SLC26A4

606705 DEAFNESS, AUTOSOMAL DOMINANT 36; DFNA36

606706 TRANSMEMBRANE COCHLEAR-EXPRESSED GENE 1; TMC1

606725 CLN6 GENE; CLN6

607096 SOLUTE CARRIER FAMILY 22 (URATE TRANSPORTER), MEMBER 12; SLC22A12

607709 TIGHT JUNCTION PROTEIN 2; TJP2

607998 TRIPEPTIDYL PEPTIDASE I; TPP1

608102 CLN5 GENE; CLN5

608466 ACTIVATOR OF HEAT-SHOCK 90-KD PROTEIN ATPase 1; AHSA1

609310 COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 2; HNPCC2

610558 MITOGEN-ACTIVATED PROTEIN KINASE-ASSOCIATED PROTEIN 1; MAPKAP1

May 8, 2009

Changed Entries:

118200 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B; CMT1B

119800 CLUBFOOT, CONGENITAL; CCF

126450 DOPAMINE RECEPTOR D2; DRD2

132811 EPOXIDE HYDROLASE 2, CYTOSOLIC; EPHX2

134350 COMPLEMENT FACTOR D; CFD

137168 GAMMA-GLUTAMYLTRANSFERASE 5; GGT5

137580 GILLES DE LA TOURETTE SYNDROME; GTS

139250 GROWTH HORMONE 1; GH1

143170 MALE-ENHANCED ANTIGEN 1; MEA1

159900 MYOCLONIC DYSTONIA

164280 FEINGOLD SYNDROME

172439 PHOSPHORIBOSYLAMINOIMIDAZOLE CARBOXYLASE; PAICS

174500 POLYDACTYLY, PREAXIAL II; PPD2

185440 SUPPRESSOR OF TUMORIGENICITY 2; ST2

191175 HEAT-SHOCK PROTEIN, 90-KD, BETA, 1; HSP90B1

200150 CHOREOACANTHOCYTOSIS; CHAC

204690 AMELOGENESIS IMPERFECTA, TYPE IG; AI1G

208900 ATAXIA-TELANGIECTASIA; AT

248510 MANNOSIDOSIS, BETA A, LYSOSOMAL

253270 HOLOCARBOXYLASE SYNTHETASE DEFICIENCY

262600 PITUITARY DWARFISM III

277000 MAYER-ROKITANSKY-KUSTER-HAUSER SYNDROME

300183 NONCOMPACTION OF LEFT VENTRICULAR MYOCARDIUM, FAMILIAL ISOLATED, X-LINKED;

300394 TAFAZZIN; TAZ

300624 FRAGILE X MENTAL RETARDATION SYNDROME

600921 FIBROBLAST GROWTH FACTOR 9; FGF9

600962 PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC; NEPPK

601203 INTERLEUKIN 1 RECEPTOR-LIKE 1; IL1RL1

601367 STROKE, ISCHEMIC

601622 TWIST, DROSOPHILA, HOMOLOG OF, 1; TWIST1

601784 CATION CHANNEL, AMILORIDE-SENSITIVE, NEURONAL, 1; ACCN1

601828 NUCLEAR RECEPTOR SUBFAMILY 4, GROUP A, MEMBER 2; NR4A2

602149 PAIRED-LIKE HOMEODOMAIN TRANSCRIPTION FACTOR 1; PITX1

602671 SOLUTE CARRIER FAMILY 37 (GLUCOSE-6-PHOSPHATE TRANSPORTER), MEMBER

602885 MOTILIN RECEPTOR; MLNR

603165 DERMATITIS, ATOPIC

604143 EXTRA SPINDLE POLES-LIKE 1; ESPL1

604590 Fc FRAGMENT OF IgG, LOW AFFINITY IIb, RECEPTOR FOR; FCGR2B

606904 EPILEPSY, JUVENILE MYOCLONIC; JME

607585 ATAXIA-TELANGIECTASIA MUTATED GENE; ATM

608094 SOLUTE CARRIER FAMILY 37 (GLYCEROL-3-PHOSPHATE TRANSPORTER), MEMBER

608863 PODOPLANIN; PDPN

609489 MANNOSIDASE, BETA A, LYSOSOMAL; MANBA

609702 PROTEASOME-ASSEMBLING CHAPERONE 2; PSMG2

612759 SYNESTHESIA

May 7, 2009

Changed Entries:

100300 ADAMS-OLIVER SYNDROME; AOS

102560 ACTIN, GAMMA-1; ACTG1

103285 ADULT SYNDROME

104300 ALZHEIMER DISEASE; AD

104760 AMYLOID BETA A4 PRECURSOR PROTEIN; APP

106260 ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE

112267 BONE MORPHOGENETIC PROTEIN 7; BMP7

114240 CALPAIN 3; CAPN3

119530 OROFACIAL CLEFT 1; OFC1

129400 RAPP-HODGKIN SYNDROME; RHS

129900 ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME

131550 EPIDERMAL GROWTH FACTOR RECEPTOR; EGFR

133430 ESTROGEN RECEPTOR 1; ESR1

135750 LAURIN-SANDROW SYNDROME

137575 GIGANTIFORM CEMENTOMA, FAMILIAL

139191 GROWTH HORMONE-RELEASING HORMONE RECEPTOR; GHRHR

142940 3-@HYDROXY-3-METHYLGLUTARYL-CoA SYNTHASE 1; HMGCS1

143100 HUNTINGTON DISEASE; HD

150330 LAMIN A/C; LMNA

154750 MARFANOID HYPERMOBILITY SYNDROME

164730 V-AKT MURINE THYMOMA VIRAL ONCOGENE HOMOLOG 1; AKT1

165070 FMS-RELATED TYROSINE KINASE 1; FLT1

171834 PHOSPHATIDYLINOSITOL 3-KINASE, CATALYTIC, ALPHA; PIK3CA

178600 PULMONARY HYPERTENSION, PRIMARY, 1; PPH1

187380 TENASCIN C; TNC

188470 THYROID CARCINOMA, FOLLICULAR; FTC

188840 TITIN; TTN

189980 ABELSON MURINE LEUKEMIA VIRAL ONCOGENE HOMOLOG 1; ABL1

191170 TUMOR PROTEIN p53; TP53

194190 WOLF-HIRSCHHORN SYNDROME; WHS

217990 CORPUS CALLOSUM, AGENESIS OF

222448 DONNAI-BARROW SYNDROME

267000 RENAL HAMARTOMAS, NEPHROBLASTOMATOSIS, AND FETAL GIGANTISM

600028 DISTAL-LESS HOMEOBOX 5; DLX5

600030 DISTAL-LESS HOMEOBOX 6; DLX6

600073 LOW DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN 2; LRP2

600234 3-@HYDROXY-3-METHYLGLUTARYL-CoA SYNTHASE 2; HMGCS2

600488 PROPROTEIN CONVERTASE, SUBTILISIN/KEXIN-TYPE, 5; PCSK5

600799 BONE MORPHOGENETIC PROTEIN RECEPTOR, TYPE II; BMPR2

600807 ASTHMA, SUSCEPTIBILITY TO

601517 ATAXIN 2; ATXN2

601691 ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 4; ABCA4

602925 PHOSPHATIDYLINOSITOL 3-KINASE, CATALYTIC, BETA; PIK3CB

603273 TUMOR PROTEIN p63; TP63

604292 ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME

605714 CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED

605911 3-@HYDROXY-3-METHYLGLUTARYL-CoA SYNTHASE 2 DEFICIENCY

605996 DOM3, C. ELEGANS, HOMOLOG OF, Z; DOM3Z

606409 ITCHY, MOUSE, HOMOLOG OF; ITCH

607642 RETINOIC ACID-INDUCED GENE 1; RAI1

608851 EXORIBONUCLEASE 2; XRN2

609065 MOVED TO 605714

609301 p53 EFFECTOR RELATED TO PMP22; PERP

611667 SPERMATOGENESIS-ASSOCIATED SERINE-RICH PROTEIN 2; SPATS2

612289 PROGEROID SYNDROME, CONGENITAL, PETTY TYPE

May 6, 2009

New Entries:

612726 HARDIKAR SYNDROME

612778 SET DOMAIN-CONTAINING PROTEIN 2; SETD2

Changed Entries:

104300 ALZHEIMER DISEASE; AD

113730 UNCOUPLING PROTEIN 1; UCP1

123450 CRI-DU-CHAT SYNDROME

128230 DYSTONIA, DOPA-RESPONSIVE; DRD

138280 GLUTAMINASE, PHOSPHATE-ACTIVATED; GLS

142940 3-@HYDROXY-3-METHYLGLUTARYL-CoA SYNTHASE 1, SOLUBLE; HMGCS1

147791 JACOBSEN SYNDROME; JBS

151410 BREAKPOINT CLUSTER REGION; BCR

164210 HEMIFACIAL MICROSOMIA; HFM

170998 PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-ALPHA; PPARA

180849 RUBINSTEIN-TAYBI SYNDROME; RSTS

181510 SCHIZOPHRENIA 1; SCZD1

187430 CYSTEINE-RICH SECRETORY PROTEIN 2; CRISP2

190080 V-MYC AVIAN MYELOCYTOMATOSIS VIRAL ONCOGENE HOMOLOG; MYC

219250 CUTIS MARMORATA TELANGIECTATICA CONGENITA; CMTC

222100 DIABETES MELLITUS, INSULIN-DEPENDENT; IDDM

252010 MITOCHONDRIAL COMPLEX I DEFICIENCY

255600 MYOSCLEROSIS, AUTOSOMAL RECESSIVE

276905 MOVED TO 605472

300300 BRUTON AGAMMAGLOBULINEMIA TYROSINE KINASE; BTK

600234 3-@HYDROXY-3-METHYLGLUTARYL-CoA SYNTHASE 2, MITOCHONDRIAL; HMGCS2

600243 DEFENDER AGAINST CELL DEATH; DAD1

600531 SOLUTE CARRIER FAMILY 9, MEMBER 4; SLC9A4

600625 OROFACIAL CLEFT 11; OFC11

601500 SMOOTHENED, DROSOPHILA, HOMOLOG OF; SMOH

602150 SNAIL, DROSOPHILA, HOMOLOG OF, 2; SNAI2

602713 A DISINTEGRIN AND METALLOPROTEINASE DOMAIN 9; ADAM9

603252 FORKHEAD BOX L1; FOXL1

605797 ANKYRIN REPEAT, SAM, AND BASIC LEUCINE ZIPPER DOMAIN-CONTAINING 1;

605854 BCL2-BINDING COMPONENT 3; BBC3

606365 GLUTAMINASE, LIVER; GLS2

607962 MICRO RNA 23A; MIRN23A

607982 SCY1-LIKE 1; SCYL1

608232 LEUKEMIA, CHRONIC MYELOID; CML

608367 MYOPIA 4; MYP4

609065 CEREBRAL HEMORRHAGE WITH AMYLOIDOSIS, HEREDITARY, DUTCH TYPE; HCHWAD

610175 MICRO RNA 130A; MIR130A

610723 MICRO RNA 23B; MIRN23B

611512 JUMONJI DOMAIN-CONTAINING PROTEIN 1A; JMJD1A

612255 INFLAMMATORY BOWEL DISEASE 15; IBD15

612691 POLYMICROGYRIA, BILATERAL OCCIPITAL

612714 EXOCRINE PANCREATIC INSUFFICIENCY, DYSERYTHROPOIETIC ANEMIA, AND CALVARIAL

612717 MYOPIA 15; MYP15

612718 ARGININE:GLYCINE AMIDINOTRANSFERASE DEFICIENCY

612721 REGULATED ENDOCRINE-SPECIFIC PROTEIN 18

612722 ELONGATION PROTEIN 3, S. CEREVISIAE, HOMOLOG OF; ELP3

612723 PLECKSTRIN HOMOLOGY DOMAIN-CONTAINING PROTEIN, FAMILY H, MEMBER 2;

612724 ALDOLASE B, FRUCTOSE-BISPHOSPHATE; ALDOB

612727 BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 13; BMND13

612728 BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 14; BMND14

612729 LEAN BODY MASS QUANTITATIVE TRAIT LOCUS 1; LBMQTL1

612730 SOLUTE CARRIER FAMILY 9 (SODIUM/HYDROGEN EXCHANGER), MEMBER 8; SLC9A8

612732 COPROPORPHYRINOGEN OXIDASE; CPOX

612734 TLX1 DIVERGENT GENE

612736 GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY

612738 SOLUTE CARRIER FAMILY 9, MEMBER 10; SLC9A10

Clinical Synopsis for 261600 PHENYLKETONURIA; PKU

May 5, 2009

Changed Entries:

104760 AMYLOID BETA A4 PRECURSOR PROTEIN; APP

108733 ATPase, Ca(2+)-TRANSPORTING, PLASMA MEMBRANE, 2; ATP2B2

109535 CD40 ANTIGEN; CD40

118504 CHOLINERGIC RECEPTOR, NEURONAL NICOTINIC, ALPHA POLYPEPTIDE 4; CHRNA4

118507 CHOLINERGIC RECEPTOR, NEURONAL NICOTINIC, BETA POLYPEPTIDE 2; CHRNB2

120620 COMPLEMENT COMPONENT RECEPTOR 1; CR1

134370 COMPLEMENT FACTOR H; CFH

134371 COMPLEMENT FACTOR H-RELATED 1; CFHR1

146110 HYPOGONADOTROPIC HYPOGONADISM

146928 INTERLEUKIN 8 RECEPTOR, BETA; IL8RB

146930 INTERLEUKIN 8; IL8

152790 LUTEINIZING HORMONE/CHORIOGONADOTROPIN RECEPTOR; LHCGR

159555 MYELOID/LYMPHOID OR MIXED LINEAGE LEUKEMIA GENE; MLL

162330 TACHYKININ 3; TAC3

162332 TACHYKININ RECEPTOR 3; TACR3

163730 NITRIC OXIDE SYNTHASE 2A; NOS2A

164177 POU DOMAIN, CLASS 5, TRANSCRIPTION FACTOR 1; POU5F1

170998 PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-ALPHA; PPARA

171834 PHOSPHATIDYLINOSITOL 3-KINASE, CATALYTIC, ALPHA; PIK3CA

173350 PLASMINOGEN; PLG

176410 PRECOCIOUS PUBERTY, MALE-LIMITED

176640 PRION PROTEIN; PRNP

184429 SRY-BOX 2; SOX2

226650 EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE

261800 PIERRE ROBIN SYNDROME

266600 INFLAMMATORY BOWEL DISEASE 1; IBD1

306700 HEMOPHILIA A

600715 THROMBOSPONDIN IV; THBS4

600979 LYMPHOTOXIN B RECEPTOR; LTBR

601231 FKBP12-RAPAMYCIN COMPLEX-ASSOCIATED PROTEIN 1; FRAP1

601386 DEAFNESS, AUTOSOMAL RECESSIVE 12; DFNB12

601728 PHOSPHATASE AND TENSIN HOMOLOG; PTEN

601969 DELETED IN MALIGNANT BRAIN TUMORS 1; DMBT1

601974 SPHINGOSINE 1-PHOSPHATE RECEPTOR 1; S1PR1

602039 EUKARYOTIC TRANSLATION INITIATION FACTOR 3, SUBUNIT A; EIF3A

602196 PIERRE ROBIN SEQUENCE WITH PECTUS EXCAVATUM AND RIB AND SCAPULAR ANOMALIES

603172 UBIQUITIN-ACTIVATING ENZYME E1C; UBE1C

603385 NEDD8-ACTIVATING ENZYME E1, SUBUNIT 1; NAE1

603639 A DISINTEGRIN AND METALLOPROTEINASE DOMAIN 17; ADAM17

605111 SPHINGOSINE 1-PHOSPHATE RECEPTOR 2; S1PR2

606229 EUKARYOTIC TRANSLATION INITIATION FACTOR 2C, SUBUNIT 2; EIF2C2

606241 DICER, DROSOPHILA, HOMOLOG OF, 1; DICER1

607537 MASTERMIND-LIKE 2; MAML2

607714 TNFAIP3-INTERACTING PROTEIN 1; TNIP1

607937 HOMEOBOX TRANSCRIPTION FACTOR NANOG; NANOG

608160 SRY-BOX 9; SOX9

608938 RIBOSOMAL PROTEIN S6 KINASE, 70-KD, 1; RPS6KB1

610164 MICRO RNA 134; MIRN134

610945 MICRO RNA 296; MIRN296

612255 INFLAMMATORY BOWEL DISEASE 15; IBD15

May 4, 2009

New Entries:

612759 SYNESTHESIA

Changed Entries:

107910 CYTOCHROME P450, FAMILY 19, SUBFAMILY A, POLYPEPTIDE 1; CYP19A1

110700 BLOOD GROUP--DUFFY SYSTEM; FY

114480 BREAST CANCER

121011 GAP JUNCTION PROTEIN, BETA-2; GJB2

131320 GATA-BINDING PROTEIN 3; GATA3

131960 EPIDERMOLYSIS BULLOSA SIMPLEX WITH MOTTLED PIGMENTATION; EBS-MP

134797 FIBRILLIN 1; FBN1

141850 HEMOGLOBIN--ALPHA LOCUS 2; HBA2

147265 INOSITOL 1,4,5-TRIPHOSPHATE RECEPTOR, TYPE 1; ITPR1

163890 SYNUCLEIN, ALPHA; SNCA

165070 FMS-RELATED TYROSINE KINASE 1; FLT1

176930 COAGULATION FACTOR II; F2

179300 RADIOULNAR SYNOSTOSIS

180740 SMALL NUCLEAR RIBONUCLEOPROTEIN, 70-KD; SNRP70

181500 SCHIZOPHRENIA; SCZD

181510 SCHIZOPHRENIA 1; SCZD1

182900 SPHEROCYTOSIS, TYPE 1; SPH1

190300 TREMOR, HEREDITARY ESSENTIAL, 1; ETM1

223360 DOPAMINE BETA-HYDROXYLASE DEFICIENCY, CONGENITAL

223900 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; HSAN3

227400 FACTOR V DEFICIENCY

230800 GAUCHER DISEASE, TYPE I

235800 HISTIDINEMIA

243300 CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 1; BRIC1

243440 ISOTRETINOIN EMBRYOPATHY-LIKE SYNDROME

248500 MANNOSIDOSIS, ALPHA B, LYSOSOMAL

249800 REMOVED FROM DATABASE

253000 MORQUIO SYNDROME A

255100 MYOPATHY WITH ABNORMAL LIPID METABOLISM

267450 RESPIRATORY DISTRESS SYNDROME IN PREMATURE INFANTS

300106 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, X-LINKED

300568 MICRO RNA 221; MIR221

300569 MICRO RNA 222; MIR222

310200 MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD

600045 DNA DAMAGE-BINDING PROTEIN 1; DDB1

600285 EUKARYOTIC TRANSLATION TERMINATION FACTOR 1; ETF1

601045 CATENIN, DELTA-1; CTNND1

601282 PLECTIN 1; PLEC1

601510 SREBP CLEAVAGE-ACTIVATING PROTEIN; SCAP

601763 CASPASE 8, APOPTOSIS-RELATED CYSTEINE PROTEASE; CASP8

601769 VITAMIN D RECEPTOR; VDR

601772 H2A HISTONE FAMILY, MEMBER X; H2AFX

602629 DYSTONIA 6, TORSION; DYT6

602680 RHO GTPase-ACTIVATING PROTEIN 5; ARHGAP5

602732 RHO GTPase-ACTIVATING PROTEIN 1; ARHGAP1

602941 BREAST CANCER ANTIESTROGEN RESISTANCE 1; BCAR1

604578 ABSENT IN MELANOMA 2; AIM2

604906 SCHIZOPHRENIA 9; SCZD9

605053 TAR RNA-BINDING PROTEIN 2; TARBP2

605111 SPHINGOSINE 1-PHOSPHATE RECEPTOR 2; S1PR2

605146 SPHINGOSINE 1-PHOSPHATE RECEPTOR 5; S1PR5

606667 LEUCINE-RICH REPEAT-CONTAINING G PROTEIN-COUPLED RECEPTOR 5; LGR5

606838 PYD AND CARD DOMAIN-CONTAINING PROTEIN; PYCARD

607272 NDC80, S. CEREVISIAE, HOMOLOG OF; NDC80

607408 D-AMINO ACID OXIDASE ACTIVATOR; DAOA

609520 THAP DOMAIN-CONTAINING PROTEIN 1; THAP1

609564 POLY(ADP-RIBOSE) POLYMERASE 10; PARP10

609791 LEUCINE-RICH REPEAT PROTEIN, NEURONAL, 6A; LRRN6A

610513 ATPase, TYPE 13A2; ATP13A2

610754 WINGS APART-LIKE PROTEIN, DROSOPHILA, HOMOLOG OF; WAPAL

612729 LEAN BODY MASS QUANTITATIVE TRAIT LOCUS 1; LBMQTL1

Clinical Synopsis for 249800 REMOVED FROM DATABASE

May 1, 2009

New Entries:

612775 CONE-ROD DYSTROPHY 9; CORD9

Clinical Synopsis for 612539 SPASTIC PARAPLEGIA 42, AUTOSOMAL DOMINANT; SPG42

Clinical Synopsis for 612540 MYOPATHY, CONGENITAL, COMPTON-NORTH

Changed Entries:

111150 BLOOD GROUP--LUTHERAN INHIBITOR; INLU

120970 CONE-ROD DYSTROPHY 2; CORD2

125480 MAJOR AFFECTIVE DISORDER 1; MAFD1

238320 LEYDIG CELL HYPOPLASIA, TYPE I

274400 THYROID HORMONOGENESIS, GENETIC DEFECT IN, 1

600465 ANKYRIN 3; ANK3

605446 RETINITIS PIGMENTOSA GTPase REGULATOR-INTERACTING PROTEIN; RPGRIP1

607485 FRONTOTEMPORAL LOBAR DEGENERATION WITH UBIQUITIN-POSITIVE INCLUSIONS;

608194 CONE-ROD DYSTROPHY 13; CORD13

612775 CONE-ROD DYSTROPHY 9; CORD9

Clinical Synopsis for 127550 DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT

Clinical Synopsis for 243800 JOHANSON-BLIZZARD SYNDROME; JBS

Clinical Synopsis for 309500 RENPENNING SYNDROME 1; RENS1