PubMed Nucleotide Protein Genome Structure PopSet Taxonomy OMIM

OMIM Update List for January, 2009

January 30, 2009

New Entries:

612566 INFLAMMATORY BOWEL DISEASE 24; IBD24

612567 INFLAMMATORY BOWEL DISEASE 25; IBD25

612568 SPIC TRANSCRIPTION FACTOR; SPIC

Changed Entries:

102581 ACTIVIN A RECEPTOR, TYPE IIA; ACVR2A

108010 ARTERIOVENOUS MALFORMATIONS OF THE BRAIN

113500 BRACHYOLMIA TYPE 3

114208 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, L TYPE, ALPHA-1S SUBUNIT; CACNA1S

116150 CATARACT-MICROCORNEA SYNDROME

120435 LYNCH SYNDROME I

120790 COMPLEMENT COMPONENT 4, PARTIAL DEFICIENCY OF

125350 FAILURE OF TOOTH ERUPTION, PRIMARY; PFE

131170 ENDOGENOUS RETROVIRAL SEQUENCE 3; ERV3

134610 FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL DOMINANT

137035 GALANIN; GAL

140340 HAW RIVER SYNDROME

146110 HYPOGONADOTROPIC HYPOGONADISM

146390 CHROMOSOME 18p DELETION SYNDROME

148500 TYLOSIS WITH ESOPHAGEAL CANCER; TOC

151400 LEUKEMIA, CHRONIC LYMPHOCYTIC; CLL

151450 LEUKOCYTE ANTIGEN GROUP FIVE; LAG5

152700 SYSTEMIC LUPUS ERYTHEMATOSUS; SLE

152800 LYMPHANGIECTASIA, INTESTINAL

153670 BERNARD-SOULIER SYNDROME, BENIGN AUTOSOMAL DOMINANT

154545 LECTIN, MANNOSE-BINDING, SOLUBLE, 2; MBL2

155600 MELANOMA, CUTANEOUS MALIGNANT; CMM

156240 MESOTHELIOMA, MALIGNANT

157950 PERMANENT MOLARS, SECONDARY RETENTION OF

158170 CHROMOSOME 9p DELETION SYNDROME

159580 MYELOPATHY, HTLV-1-ASSOCIATED; HAM

160900 DYSTROPHIA MYOTONICA 1

161400 NARCOLEPSY 1; NRCLP1

161900 RENAL FAILURE, PROGRESSIVE, WITH HYPERTENSION

162200 NEUROFIBROMATOSIS, TYPE I; NF1

162300 MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB; MEN2B

162350 CEROID LIPOFUSCINOSIS, NEURONAL, 4B, AUTOSOMAL DOMINANT; CLN4B

162700 NEUTROPENIA, CHRONIC FAMILIAL

162900 NEVUS, EPIDERMAL

163700 NIPPLES, SUPERNUMERARY

163950 NOONAN SYNDROME 1; NS1

163955 NOONAN-LIKE/MULTIPLE GIANT CELL LESION SYNDROME

166250 OSTEOGLOPHONIC DYSPLASIA; OGD

168468 PARATHYROID HORMONE RECEPTOR 1; PTHR1

180300 RHEUMATOID ARTHRITIS; RA

190440 TRIGONOCEPHALY, NONSYNDROMIC

191041 TROPONIN T1, SKELETAL, SLOW; TNNT1

191044 TROPONIN I, CARDIAC; TNNI3

191045 TROPONIN T2, CARDIAC; TNNT2

207410 ANTLEY-BIXLER SYNDROME; ABS

214950 BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4

225280 EEM SYNDROME

225753 PONTOCEREBELLAR HYPOPLASIA TYPE 4; PCH4

235555 BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2

235600 HERMAPHRODITISM, TRUE

235700 HEXOKINASE DEFICIENCY HEMOLYTIC ANEMIA

241520 HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL RECESSIVE

245348 PYRUVATE DEHYDROGENASE E2 DEFICIENCY

251850 MICROVILLUS INCLUSION DISEASE; MVID

253700 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C; LGMD2C

254300 MYASTHENIA, LIMB-GIRDLE, FAMILIAL

255320 MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA

258450 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,

259100 HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE

259500 OSTEOGENIC SARCOMA

260500 PAPILLOMA OF CHOROID PLEXUS

266600 INFLAMMATORY BOWEL DISEASE 1; IBD1

268200 MYOGLOBINURIA, ACUTE RECURRENT, AUTOSOMAL RECESSIVE

306100 GONADAL DYSGENESIS, XY FEMALE TYPE; GDXY

308370 MOVED TO 312300

312300 ANDROGEN INSENSITIVITY, PARTIAL

600119 SARCOGLYCAN, ALPHA; SGCA

600692 TROPONIN T3, FAST SKELETAL; TNNT3

600900 SARCOGLYCAN, BETA; SGCB

601236 DISABLED, DROSOPHILA, HOMOLOG OF, 2; DAB2

601287 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2F; LGMD2F

601411 SARCOGLYCAN, DELTA; SGCD

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

603041 MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME; MNGIE

603690 SOLUTE CARRIER FAMILY 33 (ACETYL-CoA TRANSPORTER), MEMBER 1; SLC33A1

604116 CONE-ROD DYSTROPHY 3; CORD3

604286 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2E; LGMD2E

604741 ALDO-KETO REDUCTASE FAMILY 1, MEMBER D1; AKR1D1

605515 FORKHEAD BOX P1; FOXP1

605518 LIPIN 1; LPIN1

605554 CD244 ANTIGEN; CD244

605860 RCAN FAMILY MEMBER 3; RCAN3

608099 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D; LGMD2D

608896 SARCOGLYCAN, GAMMA; SGCG

609352 EPIDERMOLYSIS BULLOSA SIMPLEX WITH MIGRATORY CIRCINATE ERYTHEMA

610285 DOWNSTREAM OF TYROSINE KINASE 7; DOK7

612525 PYLORIC STENOSIS, INFANTILE HYPERTROPHIC, 5; IHPS5

612539 SPASTIC PARAPLEGIA 42, AUTOSOMAL DOMINANT; SPG42

612540 MYOPATHY, CONGENITAL, COMPTON-NORTH

612541 NEUTROPENIA, SEVERE CONGENITAL, AUTOSOMAL RECESSIVE 4; SCN4

612542 VITAMIN B12 PLASMA LEVEL QUANTITATIVE TRAIT LOCUS 1; B12QTL1

612543 UBIQUITIN-SPECIFIC PROTEASE 36; USP36

612544 ACTIN-BINDING LIM PROTEIN FAMILY, MEMBER 2; ABLIM2

612545 WILLIAMS-BEUREN SYNDROME CHROMOSOME REGION 26; WBSCR26

612546 WILLIAMS-BEUREN SYNDROME CHROMOSOME REGION 27; WBSCR27

612547 WILLIAMS-BEUREN SYNDROME CHROMOSOME REGION 28; WBSCR28

612548 TRIPARTITE MOTIF-CONTAINING PROTEIN 50; TRIM50

612549 TRIPARTITE MOTIF-CONTAINING PROTEIN 73; TRIM73

612550 TRIPARTITE MOTIF-CONTAINING PROTEIN 74; TRIM74

612551 FOCAL SEGMENTAL GLOMERULOSCLEROSIS 4, SUSCEPTIBILITY TO; FSGS4

612552 ZINC FINGER DOMAIN (BED-TYPE)-CONTAINING PROTEIN 4; ZBED4

612553 MICRO RNA 370; MIR370

612554 MYOPIA 16; MYP16

612557 LEUKEMIA, CHRONIC LYMPHOCYTIC, SUSCEPTIBILITY TO, 3

612558 LEUKEMIA, CHRONIC LYMPHOCYTIC SUSCEPTIBILITY TO, 4

612559 LEUKEMIA, CHRONIC LYMPHOCYTIC SUSCEPTIBILITY TO, 5

612566 INFLAMMATORY BOWEL DISEASE 24; IBD24

January 29, 2009

New Entries:

612541 NEUTROPENIA, SEVERE CONGENITAL, AUTOSOMAL RECESSIVE 4; SCN4

612553 MICRO RNA 370; MIR370

612554 MYOPIA 16; MYP16

612557 LEUKEMIA, CHRONIC LYMPHOCYTIC, SUSCEPTIBILITY TO, 3

612558 LEUKEMIA, CHRONIC LYMPHOCYTIC SUSCEPTIBILITY TO, 4

612559 LEUKEMIA, CHRONIC LYMPHOCYTIC SUSCEPTIBILITY TO, 5

612560 BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 12; BMND12

612561 DIAMOND-BLACKFAN ANEMIA 6; DBA6

612562 DIAMOND-BLACKFAN ANEMIA 7; DBA7

612563 DIAMOND-BLACKFAN ANEMIA 8; DBA8

612564 THIOREDOXIN DOMAIN-CONTAINING PROTEIN 9; TXNDC9

612565 RAS-ASSOCIATED PROTEIN RAB1B; RAB1B

Clinical Synopsis for 300695 SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT

Clinical Synopsis for 300696 MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY; XMPMA

Clinical Synopsis for 300703 SPINOCEREBELLAR ATAXIA, X-LINKED 5; SCAX5

Clinical Synopsis for 300717 MYOPATHY, REDUCING BODY, X-LINKED, EARLY-ONSET, SEVERE

Clinical Synopsis for 300718 MYOPATHY, REDUCING BODY, X-LINKED, CHILDHOOD-ONSET

Clinical Synopsis for 300719 DEAFNESS, CATARACT, RETINITIS PIGMENTOSA, AND SPERM ABNORMALITIES

Clinical Synopsis for 604129 EPIDERMOLYSIS BULLOSA PRURIGINOSA

Clinical Synopsis for 605041 BROOKE-SPIEGLER SYNDROME; BSS

Clinical Synopsis for 606764 GASTROINTESTINAL STROMAL TUMOR; GIST

Clinical Synopsis for 608244 OTOSCLEROSIS 3; OTSC3

Clinical Synopsis for 611936 CHROMOSOME 3q29 MICRODUPLICATION SYNDROME

Clinical Synopsis for 611945 SPASTIC PARAPLEGIA 37, AUTOSOMAL DOMINANT; SPG37

Clinical Synopsis for 611948 KNOBLOCH SYNDROME, TYPE III

Clinical Synopsis for 612067 DYSTONIA 16; DYT16

Clinical Synopsis for 612073 MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM, WITH

Clinical Synopsis for 612079 ALOPECIA, NEUROLOGIC DEFECTS, AND ENDOCRINOPATHY SYNDROME

Clinical Synopsis for 612089 HYPOPHOSPHATEMIC RICKETS AND HYPERPARATHYROIDISM

Clinical Synopsis for 612095 RETINITIS PIGMENTOSA 41; RP41

Clinical Synopsis for 612096 OTOSCLEROSIS 8; OTSC8

Clinical Synopsis for 612097 DEAFNESS, UNILATERAL, WITH DELAYED ENDOLYMPHATIC HYDROPS

Clinical Synopsis for 612098 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 11; CMH11

Clinical Synopsis for 612109 OCULOAURICULAR SYNDROME

Clinical Synopsis for 612132 ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AUTOSOMAL

Clinical Synopsis for 612138 EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA

Clinical Synopsis for 612164 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4

Clinical Synopsis for 612474 CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB

Clinical Synopsis for 612475 CHROMOSOME 1q21.1 DUPLICATION SYNDROME

Changed Entries:

105650 DIAMOND-BLACKFAN ANEMIA; DBA

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

109543 LEUKEMIA, CHRONIC LYMPHOCYTIC, SUSCEPTIBILITY TO, 2

113705 BREAST CANCER 1 GENE; BRCA1

114131 CALCITONIN RECEPTOR; CALCR

114251 CALSEQUESTRIN 2; CASQ2

114760 CARBONIC ANHYDRASE IV; CA4

116899 CYCLIN-DEPENDENT KINASE INHIBITOR 1A; CDKN1A

118661 CHONDROITIN SULFATE PROTEOGLYCAN 2; CSPG2

120360 MATRIX METALLOPROTEINASE 2; MMP2

120436 MutL, E. COLI, HOMOLOG OF, 1; MLH1

120790 COMPLEMENT COMPONENT 4, PARTIAL DEFICIENCY OF

124015 CYTOCHROME P450 OXIDOREDUCTASE; POR

126110 ARYL HYDROCARBON RECEPTOR NUCLEAR TRANSLOCATOR; ARNT

130650 BECKWITH-WIEDEMANN SYNDROME; BWS

131200 ENDOMETRIOSIS, SUSCEPTIBILITY TO, 1

132450 EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND CONDUCTIVE DEAFNESS

136350 FIBROBLAST GROWTH FACTOR RECEPTOR 1; FGFR1

137035 GALANIN; GAL

140340 HAW RIVER SYNDROME

143100 HUNTINGTON DISEASE; HD

143850 ORTHOSTATIC HYPOTENSIVE DISORDER, STREETEN TYPE

143890 HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT

145260 PSEUDOHYPOALDOSTERONISM, TYPE II; PHA2

145600 MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1; MHS1

145980 HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE I; HHC1

146500 HYPOTENSION, ORTHOSTATIC

146840 IMMUNODEFICIENCY WITH DEFECTIVE LEUKOCYTE AND LYMPHOCYTE FUNCTION

147050 IgE RESPONSIVENESS, ATOPIC; IGER

147280 INSULIN-LIKE GROWTH FACTOR II RECEPTOR; IGF2R

147510 INSULIN-RELATED DNA POLYMORPHISM; IRDN

147620 INTERLEUKIN 6; IL6

147630 ISLET CELL ADENOMATOSIS

147660 INTERFERON, ALPHA-1; IFNA1

147850 INTERLEUKIN 5; IL5

147892 DEIODINASE, IODOTHYRONINE, TYPE I; DIO1

151400 LEUKEMIA, CHRONIC LYMPHOCYTIC; CLL

151410 BREAKPOINT CLUSTER REGION; BCR

151510 INTEGRIN, ALPHA-X; ITGAX

151660 LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2; FPLD2

153243 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 8; TNFRSF8

153618 MANNOSE RECEPTOR, C-TYPE, 1; MRC1

156000 MENIERE DISEASE

160700 MYOPIA 2; MYP2

160775 MYOSIN, HEAVY CHAIN 9, NONMUSCLE; MYH9

164012 NUCLEAR FACTOR KAPPA-B, SUBUNIT 2; NFKB2

174400 POLYDACTYLY, PREAXIAL I

177000 PROTOPORPHYRIA, ERYTHROPOIETIC

178630 SURFACTANT, PULMONARY-ASSOCIATED PROTEIN A1; SFTPA1

179520 RAS-RELATED PROTEIN 1A; RAP1A

179615 RECOMBINATION-ACTIVATING GENE 1; RAG1

180380 RHODOPSIN; RHO

180472 RIBOSOMAL PROTEIN S17; RPS17

182900 SPHEROCYTOSIS, HEREDITARY; HS

183086 SPINOCEREBELLAR ATAXIA 6; SCA6

191170 TUMOR PROTEIN p53; TP53

191523 UPSTREAM STIMULATORY FACTOR 1; USF1

194355 X BOX-BINDING PROTEIN 1; XBP1

201750 POR DEFICIENCY

202700 NEUTROPENIA, SEVERE CONGENITAL, AUTOSOMAL DOMINANT 1; SCN1

204690 AMELOGENESIS IMPERFECTA, TYPE IG; AI1G

233690 GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE

236750 HYDROPS FETALIS, IDIOPATHIC

241080 HYPOGONADISM, ALOPECIA, DIABETES MELLITUS, MENTAL RETARDATION, AND

246700 CHYLOMICRON RETENTION DISEASE; CMRD

251850 MICROVILLUS INCLUSION DISEASE; MVID

253230 MUCOPOLYSACCHARIDOSIS TYPE VIII

256710 ELEJALDE DISEASE

259600 OSTEOLYSIS, HEREDITARY MULTICENTRIC

261540 PETERS-PLUS SYNDROME

261740 GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL

268200 MYOGLOBINURIA, ACUTE RECURRENT, AUTOSOMAL RECESSIVE

272120 SUDDEN INFANT DEATH SYNDROME

277480 VON WILLEBRAND DISEASE, RECESSIVE FORM

277950 WINCHESTER SYNDROME

300009 DENT DISEASE 1

300019 HOST CELL FACTOR C1; HCFC1

300178 ZING FINGER DOMAIN (BED-TYPE)-CONTAINING PROTEIN 1; ZBED1

300555 DENT DISEASE 2

300600 ALAND ISLAND EYE DISEASE; AIED

300633 HYPOSPADIAS, X-LINKED

300719 DEAFNESS, CATARACT, RETINITIS PIGMENTOSA, AND SPERM ABNORMALITIES

310460 MYOPIA 1; MYP1

312300 ANDROGEN INSENSITIVITY, PARTIAL

313700 ANDROGEN RECEPTOR; AR

600694 INTERLEUKIN 6 SIGNAL TRANSDUCER; IL6ST

600831 DEATH-ASSOCIATED PROTEIN KINASE 1; DAPK1

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

601492 HYALURONIDASE DEFICIENCY

601663 ESTROGEN RECEPTOR 2; ESR2

601702 RHO-ASSOCIATED COILED-COIL-CONTAINING PROTEIN KINASE 1; ROCK1

601772 H2A HISTONE FAMILY, MEMBER X; H2AFX

601884 BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 1; BMND1

601900 INTERFERON REGULATORY FACTOR 4; IRF4

601903 URIDINE DIPHOSPHATE GLYCOSYLTRANSFERASE 2 FAMILY, MEMBER B17; UGT2B17

602337 RECEPTOR TYROSINE KINASE-LIKE ORPHAN RECEPTOR 2; ROR2

602377 DYNAMIN 1; DNM1

602544 PARKIN; PARK2

602566 PURINERGIC RECEPTOR P2X, LIGAND-GATED ION CHANNEL, 7; P2RX7

603028 TOLL-LIKE RECEPTOR 2; TLR2

603196 COCHLIN; COCH

603221 MYOPIA 3; MYP3

603634 RIBOSOMAL PROTEIN L5; RPL5

603658 RIBOSOMAL PROTEIN S7; RPS7

604090 DISCS LARGE, DROSOPHILA, HOMOLOG OF, 5; DLG5

604175 RIBOSOMAL PROTEIN L11; RPL11

604199 RAS-ASSOCIATED PROTEIN RAB35; RAB35

604214 KREV INTERACTION TRAPPED 1; KRIT1

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

604893 ANTISENSE IGF2R

605156 MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY; MONA

605178 GROWTH ARREST-SPECIFIC 8; GAS8

605306 C-TYPE LECTIN DOMAIN FAMILY 4, MEMBER A; CLEC4A

605314 HISTONE DEACETYLASE 4; HDAC4

605403 TOLL-LIKE RECEPTOR 6; TLR6

605567 SIVA APOPTOSIS-INDUCING FACTOR 1; SIVA1

605580 INTERLEUKIN 23-ALPHA; IL23A

605681 BROMODOMAIN ADJACENT TO ZINC FINGER DOMAIN, 1B; BAZ1B

605998 HCLS1-ASSOCIATED PROTEIN X1; HAX1

606518 HEPATITIS A VIRUS CELLULAR RECEPTOR 1; HAVCR1

606540 MYOSIN VB; MYO5B

606860 COMPLEMENT COMPONENT 1 INHIBITOR; C1NH

606874 HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 6; HSCR6

606883 INTERLEUKIN 1 RECEPTOR-ASSOCIATED KINASE 4; IRAK4

607002 PROKINETICIN 2; PROK2

607462 ATROPHIN 1; ATN1

607676 IRAK4 DEFICIENCY

607689 ANDERSON DISEASE

607929 CCM2 GENE; CCM2

608033 NECROTIZING ENCEPHALOPATHY, ACUTE, AUTOSOMAL DOMINANT

608244 OTOSCLEROSIS 3; OTSC3

608367 MYOPIA 4

608474 MYOPIA 5

608508 CYTOCHROME b(-245), ALPHA SUBUNIT; CYBA

608908 MYOPIA 6

609256 MYOPIA 7

609257 MYOPIA 8

609258 MYOPIA 9

609259 MYOPIA 10

609351 ADP-RIBOSYLATION FACTOR-LIKE 11; ARL11

609704 MICRO RNA 16-1; MIRN16-1

609994 MYOPIA 11

609995 MYOPIA 12

610308 UDP-GAL:BETA-GlcNAc BETA-1,3-GALACTOSYLTRANSFERASE-LIKE; B3GALTL

610320 MYOPIA 14

610628 KALLMANN SYNDROME 4; KAL4

610738 NEUTROPENIA, SEVERE CONGENITAL, AUTOSOMAL RECESSIVE 3; SCN3

611045 GLUCOSE-6-PHOSPHATASE, CATALYTIC, 3; G6PC3

611053 RUN AND SH3 DOMAIN-CONTAINING 2; RUSC2

611162 MALARIA, SUSCEPTIBILITY TO

611678 PHOSDUCIN-LIKE 3; PDCL3

611817 KILLER CELL LECTIN-LIKE RECEPTOR, SUBFAMILY K, MEMBER 1; KLRK1

611935 MMADHC GENE; MMADHC

611936 CHROMOSOME 3q29 MICRODUPLICATION SYNDROME

612089 HYPOPHOSPHATEMIC RICKETS AND HYPERPARATHYROIDISM

612095 RETINITIS PIGMENTOSA 41; RP41

612096 OTOSCLEROSIS 8; OTSC8

612097 DEAFNESS, UNILATERAL, WITH DELAYED ENDOLYMPHATIC HYDROPS

612098 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 11; CMH11

612415 RAS-ASSOCIATED PROTEIN 24; RAB24

612459 BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 13; BMIQ13

612474 CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB

612475 CHROMOSOME 1q21.1 DUPLICATION SYNDROME

612515 CHROMOSOME 2 OPEN READING FRAME 37; C2ORF37

612527 DIAMOND-BLACKFAN ANEMIA 4; DBA4

612530 HOLOPROSENCEPHALY 10; HPE10

612543 UBIQUITIN-SPECIFIC PROTEASE 36; USP36

612554 MYOPIA 16; MYP16

612557 LEUKEMIA, CHRONIC LYMPHOCYTIC, SUSCEPTIBILITY TO, 3

612560 BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 12; BMND12

612561 DIAMOND-BLACKFAN ANEMIA 6; DBA6

Clinical Synopsis for 106100 ANGIOEDEMA, HEREDITARY; HAE

Clinical Synopsis for 109400 BASAL CELL NEVUS SYNDROME; BCNS

Clinical Synopsis for 113620 BRANCHIOOCULOFACIAL SYNDROME; BOFS

Clinical Synopsis for 124000 MITOCHONDRIAL COMPLEX III DEFICIENCY

Clinical Synopsis for 131705 TRANSIENT BULLOUS DERMOLYSIS OF THE NEWBORN; TBDN

Clinical Synopsis for 131750 EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL DOMINANT; DDEB

Clinical Synopsis for 132600 PILOMATRIXOMA

Clinical Synopsis for 132700 CYLINDROMATOSIS, FAMILIAL

Clinical Synopsis for 158170 CHROMOSOME 9p DELETION SYNDROME

Clinical Synopsis for 164200 OCULODENTODIGITAL DYSPLASIA; ODDD

Clinical Synopsis for 178630 SURFACTANT, PULMONARY-ASSOCIATED PROTEIN A1; SFTPA1

Clinical Synopsis for 187950 THROMBOCYTHEMIA, ESSENTIAL

Clinical Synopsis for 193300 VON HIPPEL-LINDAU SYNDROME; VHL

Clinical Synopsis for 208540 RENAL-HEPATIC-PANCREATIC DYSPLASIA; RHPD

Clinical Synopsis for 220500 DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, AND MENTAL RETARDATION

Clinical Synopsis for 226600 EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE; RDEB

Clinical Synopsis for 226700 EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE

Clinical Synopsis for 226730 EPIDERMOLYSIS BULLOSA JUNCTIONALIS WITH PYLORIC ATRESIA

Clinical Synopsis for 233650 COMBINED CELLULAR AND HUMORAL IMMUNE DEFECTS WITH GRANULOMAS

Clinical Synopsis for 251880 MITOCHONDRIAL DNA DEPLETION SYNDROME, HEPATOCEREBRAL FORM

Clinical Synopsis for 252500 MUCOLIPIDOSIS II ALPHA/BETA

Clinical Synopsis for 253230 MUCOPOLYSACCHARIDOSIS TYPE VIII

Clinical Synopsis for 270700 SPASTIC PARAPLEGIA 15, AUTOSOMAL RECESSIVE; SPG15

Clinical Synopsis for 270800 SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE; SPG5A

Clinical Synopsis for 277410 METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblD TYPE

Clinical Synopsis for 300067 LISSENCEPHALY, X-LINKED, 1; LISX1

Clinical Synopsis for 300088 EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION; EFMR

Clinical Synopsis for 300243 MENTAL RETARDATION, X-LINKED, SYNDROMIC, CHRISTIANSON TYPE

Clinical Synopsis for 300717 MYOPATHY, REDUCING BODY, X-LINKED, EARLY-ONSET, SEVERE

Clinical Synopsis for 500001 LEBER OPTIC ATROPHY AND DYSTONIA

Clinical Synopsis for 601606 TRICHOEPITHELIOMA, MULTIPLE FAMILIAL, 1

Clinical Synopsis for 604360 SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE; SPG11

Clinical Synopsis for 605407 SEGAWA SYNDROME, AUTOSOMAL RECESSIVE

Clinical Synopsis for 606812 FUMARASE DEFICIENCY

Clinical Synopsis for 607595 BRAIN SMALL VESSEL DISEASE WITH HEMORRHAGE

Clinical Synopsis for 609286 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,

Clinical Synopsis for 609560 MITOCHONDRIAL DNA DEPLETION SYNDROME, MYOPATHIC FORM

January 22, 2009

New Entries:

612539 SPASTIC PARAPLEGIA 42, AUTOSOMAL DOMINANT; SPG42

612545 WILLIAMS-BEUREN SYNDROME CHROMOSOME REGION 26; WBSCR26

612546 WILLIAMS-BEUREN SYNDROME CHROMOSOME REGION 27; WBSCR27

612547 WILLIAMS-BEUREN SYNDROME CHROMOSOME REGION 28; WBSCR28

612548 TRIPARTITE MOTIF-CONTAINING PROTEIN 50; TRIM50

612549 TRIPARTITE MOTIF-CONTAINING PROTEIN 73; TRIM73

612550 TRIPARTITE MOTIF-CONTAINING PROTEIN 74; TRIM74

612551 FOCAL SEGMENTAL GLOMERULOSCLEROSIS 4, SUSCEPTIBILITY TO; FSGS4

612552 ZINC FINGER DOMAIN (BED-TYPE)-CONTAINING PROTEIN 4; ZBED4

Changed Entries:

102581 ACTIVIN A RECEPTOR, TYPE IIA; ACVR2A

104760 AMYLOID BETA A4 PRECURSOR PROTEIN; APP

117000 CENTRAL CORE DISEASE OF MUSCLE

128100 DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT; DYT1

138945 GRANULIN; GRN

140700 HEINZ BODY ANEMIAS

144400 HYPERLIPOPROTEINEMIA, TYPE II

160775 MYOSIN, HEAVY CHAIN 9, NONMUSCLE; MYH9

160900 DYSTROPHIA MYOTONICA 1

173900 POLYCYSTIC KIDNEYS

180901 RYANODINE RECEPTOR 1; RYR1

220150 HYPOURICEMIA, RENAL, 1; RHUC1

300615 BRUNNER SYNDROME

308370 INFERTILE MALE SYNDROME

312300 REIFENSTEIN SYNDROME

314050 THROMBOCYTOPENIA, PLATELET DYSFUNCTION, HEMOLYSIS, AND IMBALANCED

516003 COMPLEX I, SUBUNIT ND4; MTND4

535000 LEBER OPTIC ATROPHY

600636 CASPASE 3, APOPTOSIS-RELATED CYSTEINE PROTEASE; CASP3

600802 SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE,

601558 RNA-BINDING PROTEIN GENE WITH MULTIPLE SPLICING; RBPMS

602896 MITOGEN-ACTIVATED PROTEIN KINASE 9; MAPK9

603278 FOCAL SEGMENTAL GLOMERULOSCLEROSIS 1; FSGS1

603690 SOLUTE CARRIER FAMILY 33 (ACETYL-CoA TRANSPORTER), MEMBER 1; SLC33A1

603903 SICKLE CELL ANEMIA

604131 THALASSEMIAS

605120 GROWTH/DIFFERENTIATION FACTOR 2; GDF2

605407 SEGAWA SYNDROME, AUTOSOMAL RECESSIVE

605479 CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 2; BRIC2

606142 SOLUTE CARRIER FAMILY 2 (FACILITATED GLUCOSE TRANSPORTER), MEMBER

606367 INTERLEUKIN 2 RECEPTOR, ALPHA, DEFICIENCY OF

606528 HOMOZYGOUS 11p15-p14 DELETION SYNDROME

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

607371 DYSTONIA, JUVENILE-ONSET

607485 FRONTOTEMPORAL LOBAR DEGENERATION WITH UBIQUITIN-POSITIVE INCLUSIONS;

607832 FOCAL SEGMENTAL GLOMERULOSCLEROSIS 3, SUSCEPTIBILITY TO; FSGS3

607872 CHROMOSOME 1p36 DELETION SYNDROME

608340 CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE A

608363 CHROMOSOME 22q11.2 MICRODUPLICATION SYNDROME

608902 DRUG METABOLISM, POOR, CYP2D6-RELATED

608971 SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE,

608978 MEACHAM SYNDROME

609334 CHROMOSOME 18 PERICENTRIC INVERSION

609508 STICKLER SYNDROME, TYPE I, NONSYNDROMIC OCULAR

609524 FILAMINOPATHY, AUTOSOMAL DOMINANT

609535 DRUG METABOLISM, POOR, CYP2C19-RELATED

609536 COMPLEMENT COMPONENT 5 DEFICIENCY

609579 SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION

609628 MAJEED SYNDROME

610039 VACUOLAR PROTEIN SORTING 37, YEAST, HOMOLOG OF, D; VPS37D

612076 HYPOURICEMIA, RENAL, 2; RHUC2

612513 CHROMOSOME 2p16.1-p15 DELETION SYNDROME

612531 THAP DOMAIN-CONTAINING PROTEIN 2; THAP2

612532 THAP DOMAIN-CONTAINING PROTEIN 3; THAP3

612533 THAP DOMAIN-CONTAINING PROTEIN 4; THAP4

612534 THAP DOMAIN-CONTAINING PROTEIN 5; THAP5

612535 THAP DOMAIN-CONTAINING PROTEIN 6; THAP6

612536 THAP DOMAIN-CONTAINING PROTEIN 8; THAP8

612537 THAP DOMAIN-CONTAINING PROTEIN 9; THAP9

612538 THAP DOMAIN-CONTAINING PROTEIN 10; THAP10

January 21, 2009

New Entries:

612525 PYLORIC STENOSIS, INFANTILE HYPERTROPHIC, 5; IHPS5

612540 MYOPATHY, CONGENITAL, COMPTON-NORTH

612542 VITAMIN B12 PLASMA LEVEL QUANTITATIVE TRAIT LOCUS 1; B12QTL1

612543 UBIQUITIN-SPECIFIC PROTEASE 36; USP36

612544 ACTIN-BINDING LIM PROTEIN FAMILY, MEMBER 2; ABLIM2

Changed Entries:

125853 DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM

143100 HUNTINGTON DISEASE; HD

143890 HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT

144010 HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, TYPE B

144300 HYPERLIPOPROTEINEMIA, TYPE II, AND DEAFNESS

144600 HYPERLIPOPROTEINEMIA, TYPE IV

144800 HYPEROSTOSIS FRONTALIS INTERNA

145000 HYPERPARATHYROIDISM 1; HRPT1

145260 PSEUDOHYPOALDOSTERONISM, TYPE II; PHA2

176807 PROSTATE CANCER

179010 PYLORIC STENOSIS, INFANTILE HYPERTROPHIC 1; IHPS1

182100 FUCOSYLTRANSFERASE 2; FUT2

184757 NUCLEAR RECEPTOR SUBFAMILY 5, GROUP A, MEMBER 1; NR5A1

188890 TOBACCO ADDICTION, SUSCEPTIBILITY TO

189907 HNF1 HOMEOBOX B; HNF1B

192977 VERY LOW DENSITY LIPOPROTEIN RECEPTOR; VLDLR

224050 CEREBELLAR HYPOPLASIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL

257200 NIEMANN-PICK DISEASE, TYPE A

300017 FILAMIN A; FLNA

300049 HETEROTOPIA, PERIVENTRICULAR, X-LINKED DOMINANT

300120 MASTERMIND-LIKE DOMAIN-CONTAINING PROTEIN 1; MAMLD1

300287 P ANTIGEN FAMILY, MEMBER 4; PAGE4

300623 FRAGILE X TREMOR/ATAXIA SYNDROME; FXTAS

300624 FRAGILE X MENTAL RETARDATION SYNDROME

600016 CONTACTIN 1; CNTN1

600082 PROSTATIC HYPERPLASIA, BENIGN; BPH

606155 MENTAL RETARDATION WITH EPILEPSY AND CHARACTERISTIC FACIES

606156 SENER SYNDROME

607374 PRKR INHIBITOR, REPRESSOR OF; PRKRIR

607608 SPHINGOMYELIN PHOSPHODIESTERASE 1, ACID LYSOSOMAL; SMPD1

607616 NIEMANN-PICK DISEASE, TYPE B

608363 CHROMOSOME 22q11.2 MICRODUPLICATION SYNDROME

608578 CEREBROFRONTOFACIAL SYNDROME

609518 THAP DOMAIN-CONTAINING PROTEIN 7; THAP7

609520 THAP DOMAIN-CONTAINING PROTEIN 1; THAP1

610260 PYLORIC STENOSIS, INFANTILE HYPERTROPHIC, 2; IHPS2

611003 SMOKING AS A QUANTITATIVE TRAIT LOCUS 1; SQTL1

611305 ACTIN-BINDING LIM PROTEIN FAMILY, MEMBER 3; ABLIM3

611955 PROSTATE CANCER, HEREDITARY, 11; HPC11

January 20, 2009

New Entries:

Clinical Synopsis for 611944 LYMPHEDEMA, HEREDITARY, IB

Clinical Synopsis for 612422 CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3; RCM3

Changed Entries:

176270 PRADER-WILLI SYNDROME; PWS

188855 GRANULYSIN; GNLY

190080 V-MYC AVIAN MYELOCYTOMATOSIS VIRAL ONCOGENE HOMOLOG; MYC

191030 TROPOMYOSIN 3; TPM3

201910 ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY

270550 SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE; SACS

300095 SOLUTE CARRIER FAMILY 16 (MONOCARBOXYLIC ACID TRANSPORTER), MEMBER

300523 ALLAN-HERNDON-DUDLEY SYNDROME; AHDS

516005 COMPLEX I, SUBUNIT ND5; MTND5

606598 GANGLIOSIDE-INDUCED DIFFERENTIATION-ASSOCIATED PROTEIN 1; GDAP1

609284 NEMALINE MYOPATHY 1; NEM1

Clinical Synopsis for 219800 CYSTINOSIS, NEPHROPATHIC; CTNS

January 16, 2009

New Entries:

612530 HOLOPROSENCEPHALY 10; HPE10

612531 THAP DOMAIN-CONTAINING PROTEIN 2; THAP2

612532 THAP DOMAIN-CONTAINING PROTEIN 3; THAP3

612533 THAP DOMAIN-CONTAINING PROTEIN 4; THAP4

612534 THAP DOMAIN-CONTAINING PROTEIN 5; THAP5

612535 THAP DOMAIN-CONTAINING PROTEIN 6; THAP6

612536 THAP DOMAIN-CONTAINING PROTEIN 8; THAP8

612537 THAP DOMAIN-CONTAINING PROTEIN 9; THAP9

612538 THAP DOMAIN-CONTAINING PROTEIN 10; THAP10

Changed Entries:

102771 ADENOSINE MONOPHOSPHATE DEAMINASE 2; AMPD2

105400 AMYOTROPHIC LATERAL SCLEROSIS 1; ALS1

107400 PROTEASE INHIBITOR 1; PI

107680 APOLIPOPROTEIN A-I; APOA1

112600 BRACHYDACTYLY, TYPE A2; BDA2

118220 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A; CMT1A

120900 COMPLEMENT COMPONENT 5; C5

124020 CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 19; CYP2C19

159440 MYELIN PROTEIN ZERO; MPZ

176270 PRADER-WILLI SYNDROME; PWS

182170 ANEMIA, SIDEROBLASTIC, AUTOSOMAL DOMINANT

203700 ALPERS DIFFUSE DEGENERATION OF CEREBRAL GRAY MATTER WITH HEPATIC CIRRHOSIS

236100 HOLOPROSENCEPHALY

535000 LEBER OPTIC ATROPHY

600116 PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE; PARK2

600760 SODIUM CHANNEL, NONVOLTAGE-GATED 1, BETA SUBUNIT; SCNN1B

601711 TNF RECEPTOR-ASSOCIATED FACTOR 1; TRAF1

602330 ACTIN-BINDING LIM PROTEIN FAMILY, MEMBER 1; ABLIM1

602346 CONTACTIN-ASSOCIATED PROTEIN 1; CNTNAP1

603169 CATHEPSIN Z; CTSZ

603248 BONE MORPHOGENETIC PROTEIN RECEPTOR, TYPE IB; BMPR1B

603448 DISABLED, DROSOPHILA, HOMOLOG OF, 1; DAB1

603539 CATHEPSIN F; CTSF

605909 PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK6

606651 GLUTAMATE RECEPTOR, IONOTROPIC, N-METHYL-D-ASPARTATE 3B; GRIN3B

608309 PTEN-INDUCED PUTATIVE KINASE 1; PINK1

609535 DRUG METABOLISM, POOR, CYP2C19-RELATED

612532 THAP DOMAIN-CONTAINING PROTEIN 3; THAP3

January 15, 2009

New Entries:

612529 AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA2; AI2A2

Changed Entries:

123670 CRYSTALLIN, GAMMA-B; CRYGB

127550 DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT

127750 DEMENTIA, LEWY BODY; DLB

130650 BECKWITH-WIEDEMANN SYNDROME; BWS

134820 FIBRINOGEN, A ALPHA POLYPEPTIDE; FGA

136120 FISH-EYE DISEASE; FED

141800 HEMOGLOBIN--ALPHA LOCUS 1; HBA1

141850 HEMOGLOBIN--ALPHA LOCUS 2; HBA2

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

143100 HUNTINGTON DISEASE; HD

151670 LIPASE, HEPATIC; LIPC

158300 TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME

159550 MYELOCEREBELLAR DISORDER

160741 MYOSIN, HEAVY CHAIN 8, SKELETAL MUSCLE, PERINATAL; MYH8

163890 SYNUCLEIN, ALPHA; SNCA

175100 ADENOMATOUS POLYPOSIS OF THE COLON; APC

203750 ALPHA-METHYLACETOACETIC ACIDURIA

204700 AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA1; AI2A1

210210 3-@METHYLCROTONYL-CoA CARBOXYLASE 2 DEFICIENCY

241080 HYPOGONADISM, ALOPECIA, DIABETES MELLITUS, MENTAL RETARDATION, AND

264900 COAGULATION FACTOR XI; F11

300568 MICRO RNA 221; MIRN221

300569 MICRO RNA 222; MIRN222

313700 ANDROGEN RECEPTOR; AR

600272 COILIN; COIL

600450 ALDO-KETO REDUCTASE FAMILY 1, MEMBER C2; AKR1C2

600957 ANTI-MULLERIAN HORMONE; AMH

601105 CATHEPSIN K; CTSK

601517 ATAXIN 2; ATXN2

601558 RNA-BINDING PROTEIN GENE WITH MULTIPLE SPLICING; RBPMS

603169 CATHEPSIN Z; CTSZ

603539 CATHEPSIN F; CTSF

604319 TRF1-INTERACTING NUCLEAR FACTOR 2; TINF2

605104 ATAXIN 2-BINDING PROTEIN 1

605178 GROWTH ARREST-SPECIFIC 8; GAS8

607060 PARKINSON DISEASE 8; PARK8

607462 ATROPHIN 1; ATN1

607809 ACETYL-CoA ACETYLTRANSFERASE 1; ACAT1

609014 3-@METHYLCROTONYL-CoA CARBOXYLASE 2; MCCC2

609337 MICRO RNA 155; MIRN155

609526 PLECKSTRIN HOMOLOGY DOMAIN-CONTAINING PROTEIN, FAMILY G, MEMBER 4;

609590 QUAKING, MOUSE, HOMOLOG OF; QKI

609669 WD REPEAT-CONTAINING PROTEIN 36; WDR36

609887 GLAUCOMA 1, OPEN ANGLE, G; GLC1G

610567 MICRO RNA 146B; MIRN146B

611189 MICRO RNA 197; MIRN197

611731 APC GENE

612149 RNA-BINDING MOTIF PROTEIN 9; RBM9

January 14, 2009

New Entries:

612513 CHROMOSOME 2p16.1-p15 DELETION SYNDROME

Changed Entries:

105120 AMYLOIDOSIS, FINNISH TYPE

105200 AMYLOIDOSIS, FAMILIAL VISCERAL

109150 MACHADO-JOSEPH DISEASE; MJD

123670 CRYSTALLIN, GAMMA-B; CRYGB

130900 AMELOGENESIS IMPERFECTA, TYPE III; AI3

132100 EPILEPSY, PHOTOGENIC

132810 EPOXIDE HYDROLASE 1, MICROSOMAL; EPHX1

133600 EXOSTOSES OF HEEL

134500 FACTOR VIII DEFICIENCY

134570 FACTOR XIII, A1 SUBUNIT; F13A1

134830 FIBRINOGEN, B BETA POLYPEPTIDE; FGB

136120 FISH-EYE DISEASE; FED

136150 FLOOD FACTOR DEFICIENCY

136580 FRAGILE SITE 16q22; FRA16A

136820 FUCOSIDASE, ALPHA-L, 2; FUCA2

137100 IMMUNOGLOBULIN A DEFICIENCY 1; IGAD1

137580 GILLES DE LA TOURETTE SYNDROME; GTS

138140 SOLUTE CARRIER FAMILY 2 (FACILITATED GLUCOSE TRANSPORTER), MEMBER

138470 COMPLEMENT FACTOR B; CFB

140300 HASHIMOTO THYROIDITIS

141500 MIGRAINE, FAMILIAL HEMIPLEGIC, 1; FHM1

141800 HEMOGLOBIN--ALPHA LOCUS 1; HBA1

141850 HEMOGLOBIN--ALPHA LOCUS 2; HBA2

141900 HEMOGLOBIN--BETA LOCUS; HBB

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

143020 HPA I RECOGNITION POLYMORPHISM, BETA-GLOBIN-RELATED; HPA1

143100 HUNTINGTON DISEASE; HD

147370 INSULIN-LIKE GROWTH FACTOR I RECEPTOR; IGF1R

147556 INTEGRIN, ALPHA-6; ITGA6

153450 LYSOZYME; LYZ

155900 MELKERSSON-ROSENTHAL SYNDROME

159900 MYOCLONIC DYSTONIA

164757 V-RAF MURINE SARCOMA VIRAL ONCOGENE HOMOLOG B1; BRAF

171834 PHOSPHATIDYLINOSITOL 3-KINASE, CATALYTIC, ALPHA; PIK3CA

176300 TRANSTHYRETIN; TTR

183086 SPINOCEREBELLAR ATAXIA 6; SCA6

184429 SRY-BOX 2; SOX2

191100 TUBEROUS SCLEROSIS; TS

201810 3-@BETA-HYDROXYSTEROID DEHYDROGENASE, TYPE II, DEFICIENCY OF

202370 ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL FORM

204650 AMELOGENESIS IMPERFECTA, TYPE IC; AI1C

214100 ZELLWEGER SYNDROME; ZS

225410 EHLERS-DANLOS SYNDROME, TYPE VII, AUTOSOMAL RECESSIVE

226730 EPIDERMOLYSIS BULLOSA JUNCTIONALIS WITH PYLORIC ATRESIA

229120 FOUNTAIN SYNDROME

231670 GLUTARIC ACIDEMIA I

258450 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,

265800 PYCNODYSOSTOSIS

300550 PHOSPHATE-REGULATING ENDOPEPTIDASE HOMOLOG, X-LINKED; PHEX

307800 HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT

600085 PROTEIN-TYROSINE KINASE SYK; SYK

601206 POU DOMAIN, CLASS 2, ASSOCIATING FACTOR 1; POU2AF1

601556 ATAXIN 1; ATXN1

602690 SUCCINATE DEHYDROGENASE COMPLEX, SUBUNIT D, INTEGRAL MEMBRANE PROTEIN;

602859 PEROXISOME BIOGENESIS FACTOR 10; PEX10

603634 RIBOSOMAL PROTEIN L5; RPL5

605018 CYLD GENE; CYLD

605556 SOLUTE CARRIER FAMILY 4 (SODIUM BICARBONATE TRANSPORTER-LIKE), MEMBER

605604 POLYADENYLATE-BINDING PROTEIN-INTERACTING PROTEIN 2; PAIP2

606619 GLUCOSIDASE, BETA, ACID 3; GBA3

606758 DUAL OXIDASE 1; DUOX1

606759 DUAL OXIDASE 2; DUOX2

607485 FRONTOTEMPORAL LOBAR DEGENERATION WITH UBIQUITIN-POSITIVE INCLUSIONS;

607546 CD200 RECEPTOR 1; CD200R1

609764 JUMONJI DOMAIN-CONTAINING PROTEIN 2A; JMJD2A

611102 DEAFNESS, SENSORINEURAL, AND MALE INFERTILITY

611631 EPILEPSY, FAMILIAL TEMPORAL LOBE, 4; ETL4

611637 PRIMARY LATERAL SCLEROSIS, ADULT, 1; PLSA1

612087 C-TYPE LECTIN DOMAIN FAMILY 2, MEMBER A; CLEC2A

612522 DIABETES MELLITUS, INSULIN-DEPENDENT, 22; IDDM22

612524 RIBONUCLEASE P/MRP, 21-KD SUBUNIT; RPP21

612526 LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 3; CGL3

612527 DIAMOND-BLACKFAN ANEMIA 4; DBA4

612528 DIAMOND-BLACKFAN ANEMIA 5; DBA5

Clinical Synopsis for 607485 FRONTOTEMPORAL LOBAR DEGENERATION WITH UBIQUITIN-POSITIVE INCLUSIONS;

January 13, 2009

New Entries:

612527 DIAMOND-BLACKFAN ANEMIA 4; DBA4

612528 DIAMOND-BLACKFAN ANEMIA 5; DBA5

Changed Entries:

102400 ACROOSTEOLYSIS

105650 DIAMOND-BLACKFAN ANEMIA; DBA

108500 EPISODIC ATAXIA, TYPE 2; EA2

116920 LEUKOCYTE ADHESION DEFICIENCY, TYPE I; LAD

120160 COLLAGEN, TYPE I, ALPHA-2; COL1A2

120700 COMPLEMENT COMPONENT 3; C3

121300 COPROPORPHYRIA

126900 DUPUYTREN CONTRACTURE

130050 EHLERS-DANLOS SYNDROME, TYPE IV, AUTOSOMAL DOMINANT

130650 BECKWITH-WIEDEMANN SYNDROME; BWS

139320 GNAS COMPLEX LOCUS; GNAS

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

148840 KLEINE-LEVIN HIBERNATION SYNDROME

151660 LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2; FPLD2

173370 PLASMINOGEN ACTIVATOR, TISSUE; PLAT

180468 RIBOSOMAL PROTEIN L35A; RPL35A

180472 RIBOSOMAL PROTEIN S17; RPS17

180901 RYANODINE RECEPTOR 1; RYR1

182389 SODIUM CHANNEL, NEURONAL TYPE I, ALPHA SUBUNIT; SCN1A

193300 VON HIPPEL-LINDAU SYNDROME; VHL

194050 WILLIAMS-BEUREN SYNDROME; WBS

212750 CELIAC DISEASE; CD

214800 CHARGE SYNDROME

242650 MOVED TO 244400

260600 LEUKODYSTROPHY, HYPOMYELINATING, 3

275900 SPASTIC PARAPLEGIA 20, AUTOSOMAL RECESSIVE; SPG20

300005 METHYL-CpG-BINDING PROTEIN 2; MECP2

301300 DELTA-AMINOLEVULINATE SYNTHASE 2; ALAS2

312080 PELIZAEUS-MERZBACHER DISEASE; PMD

313700 ANDROGEN RECEPTOR; AR

600072 FATAL FAMILIAL INSOMNIA; FFI

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

601329 LIM DOMAIN KINASE 1; LIMK1

602076 TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY V, MEMBER 1;

602439 ACUTE MYELOGENOUS LEUKEMIA

603404 ZINC FINGER PROTEIN 169; ZNF169

603716 GLIAL CELLS MISSING, DROSOPHILA, HOMOLOG OF, 2; GCM2

603912 EUKARYOTIC TRANSLATION INITIATION FACTOR 3, SUBUNIT H; EIF3H

604304 ACTIN-LIKE 7B; ACTL7B

604360 SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE; SPG11

604479 SIRTUIN 1; SIRT1

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

605230 TUMOR PROTEIN p53-BINDING PROTEIN 1; TP53BP1

605491 NEBULETTE

605555 ARYL HYDROCARBON RECEPTOR-INTERACTING PROTEIN; AIP

606386 OLIGODENDROCYTE LINEAGE TRANSCRIPTION FACTOR 2; OLIG2

606817 PRE-T-CELL RECEPTOR, ALPHA-CHAIN PRECURSOR; PTCRA

606908 ADP-RIBOSYLATION FACTOR GTPase-ACTIVATING PROTEIN 2; ARFGAP2

607111 SPG20 GENE; SPG20

607420 GABA-A RECEPTOR-ASSOCIATED PROTEIN-LIKE PROTEIN 1; GABARAPL1

608166 SEMAPHORIN 3E; SEMA3E

608803 GAP JUNCTION PROTEIN, GAMMA-2; GJC2

608804 LEUKODYSTROPHY, HYPOMYELINATING, 2

610784 MICRO RNA 29C; MIRN29C

610844 SPG11 GENE; SPG11

610914 ECTO-NOX DISULFIDE-THIOL EXCHANGER 1; ENOX1

610944 MICRO RNA 216; MIRN216

610974 ZINC FINGER PROTEIN 521; ZNF521

611637 PRIMARY LATERAL SCLEROSIS, ADULT, 1; PLSA1

611823 MITOCHONDRIAL RIBOSOMAL PROTEIN L4; MRPL4

611834 MITOCHONDRIAL RIBOSOMAL PROTEIN L21; MRPL21

612511 MICRO RNA 101-1; MIRN101-1

612512 MICRO RNA 101-2; MIRN101-2

Clinical Synopsis for 117000 CENTRAL CORE DISEASE OF MUSCLE

Clinical Synopsis for 173370 PLASMINOGEN ACTIVATOR, TISSUE; PLAT

Clinical Synopsis for 180901 RYANODINE RECEPTOR 1; RYR1

Clinical Synopsis for 242650 MOVED TO 244400

Clinical Synopsis for 301300 DELTA-AMINOLEVULINATE SYNTHASE 2; ALAS2

January 12, 2009

New Entries:

612526 LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 3; CGL3

Changed Entries:

103580 PSEUDOHYPOPARATHYROIDISM, TYPE IA; PHP1A

103780 ALCOHOL DEPENDENCE

106180 ANGIOTENSIN I-CONVERTING ENZYME; ACE

107680 APOLIPOPROTEIN A-I; APOA1

113900 PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA; PFHB1A

114500 COLORECTAL CANCER; CRC

114580 CANDIDIASIS, FAMILIAL CHRONIC MUCOCUTANEOUS, AUTOSOMAL DOMINANT

118493 CHOLINERGIC RECEPTOR, MUSCARINIC, 2; CHRM2

120620 COMPLEMENT COMPONENT RECEPTOR 1; CR1

120700 COMPLEMENT COMPONENT 3; C3

120810 COMPLEMENT COMPONENT 4A; C4A

121300 COPROPORPHYRIA

122470 CORNELIA DE LANGE SYNDROME 1; CDLS1

123000 CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT; CMDD

124030 CYTOCHROME P450, SUBFAMILY IID, POLYPEPTIDE 6; CYP2D6

126200 MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO; MS

133430 ESTROGEN RECEPTOR 1; ESR1

137780 GLIAL FIBRILLARY ACIDIC PROTEIN; GFAP

143470 HYPERALPHALIPOPROTEINEMIA

157140 MICROTUBULE-ASSOCIATED PROTEIN TAU; MAPT

163731 NITRIC OXIDE SYNTHASE 1; NOS1

180660 POLYMERASE II, RNA, SUBUNIT A; POLR2A

269700 LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2; CGL2

400043 DEAFNESS, Y-LINKED 1; DFNY1

590015 TRANSFER RNA, MITOCHONDRIAL, ASPARTIC ACID; MTTD

601047 CAVEOLIN 1; CAV1

601104 SUPRANUCLEAR PALSY, PROGRESSIVE, 1; PSNP1

601728 PHOSPHATASE AND TENSIN HOMOLOG; PTEN

602157 NEUROONCOLOGIC VENTRAL ANTIGEN 1; NOVA1

604499 HYPERLIPIDEMIA, COMBINED, 2

604811 LEUKOCYTE IMMUNOGLOBULIN-LIKE RECEPTOR, SUBFAMILY B, MEMBER 1; LILRB1

605032 COMPLEXIN 1; CPLX1

605980 NUCLEOTIDE-BINDING OLIGOMERIZATION DOMAIN PROTEIN 1; NOD1

606463 GLUCOSIDASE, BETA, ACID; GBA

606557 B-CELL CLL/LYMPHOMA 11A; BCL11A

607528 ROUNDABOUT, DROSOPHILA, HOMOLOG OF, 4; ROBO4

611126 ACYL-CoA DEHYDROGENASE FAMILY, MEMBER 9, DEFICIENCY OF

January 9, 2009

Changed Entries:

107670 APOLIPOPROTEIN A-II; APOA2

107720 APOLIPOPROTEIN C-III; APOC3

114480 BREAST CANCER

114500 COLORECTAL CANCER; CRC

115200 CARDIOMYOPATHY, DILATED, 1A; CMD1A

115470 CAT EYE SYNDROME; CES

116920 LEUKOCYTE ADHESION DEFICIENCY, TYPE I; LAD

117800 EAR WAX, WET/DRY

118430 CHLORPROPAMIDE-ALCOHOL FLUSHING; CPAF

123590 CRYSTALLIN, ALPHA-B; CRYAB

125250 OPTIC ATROPHY 1 AND DEAFNESS

147139 Fc FRAGMENT OF IgE, HIGH AFFINITY I, RECEPTOR FOR, GAMMA SUBUNIT;

147450 SUPEROXIDE DISMUTASE 1; SOD1

151670 LIPASE, HEPATIC; LIPC

168601 PARKINSON DISEASE, FAMILIAL, TYPE 1; PARK1

180300 RHEUMATOID ARTHRITIS; RA

203800 ALSTROM SYNDROME; ALMS

301500 FABRY DISEASE

600925 PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, J; PTPRJ

600957 ANTI-MULLERIAN HORMONE; AMH

602533 ONCOGENE DJ1

602719 SPLICING FACTOR, ARGININE/SERINE-RICH, 10; SFRS10

602917 REGULATOR OF CALCINEURIN 1; RCAN1

604424 HOMEODOMAIN-INTERACTING PROTEIN KINASE 3; HIPK3

605290 OPA1 GENE; OPA1

605347 PEPTIDYLARGININE DEIMINASE, TYPE IV; PADI4

605543 PARKINSON DISEASE 4, AUTOSOMAL DOMINANT LEWY BODY; PARK4

606324 PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK7

606844 ALMS1 GENE; ALMS1

607786 PROPROTEIN CONVERTASE, SUBTILISIN/KEXIN-TYPE, 9; PCSK9

608754 tRNA SPLICING ENDONUCLEASE 34, S. CEREVISIAE, HOMOLOG OF; TSEN34

611152 ALZHEIMER DISEASE 13; AD13

611154 ALZHEIMER DISEASE 14; AD14

612087 C-TYPE LECTIN DOMAIN FAMILY 2, MEMBER A; CLEC2A

January 8, 2009

Changed Entries:

103180 ADP-RIBOSYLATION FACTOR 1; ARF1

104200 ALPORT SYNDROME, AUTOSOMAL DOMINANT

104300 ALZHEIMER DISEASE; AD

105150 AMYLOIDOSIS VI

105200 AMYLOIDOSIS, FAMILIAL VISCERAL

105800 ANEURYSM, INTRACRANIAL BERRY, 1

107400 PROTEASE INHIBITOR 1; PI

107680 APOLIPOPROTEIN A-I; APOA1

107741 APOLIPOPROTEIN E; APOE

108340 ARYL HYDROCARBON HYDROXYLASE INDUCIBILITY

109100 AUTOIMMUNE DISEASE

109270 SOLUTE CARRIER FAMILY 4 (ANION EXCHANGER), MEMBER 1; SLC4A1

110750 BLOOD GROUP--GERBICH; Ge

111000 BLOOD GROUP--KIDD SYSTEM; JK

111100 FUCOSYLTRANSFERASE 3; FUT3

111400 BLOOD GROUP, P SYSTEM

112050 BLOOD GROUP--WRIGHT ANTIGEN; WR

112200 BLUE RUBBER BLEB NEVUS

113500 BRACHYOLMIA TYPE 3

114000 CAFFEY DISEASE

114130 CALCITONIN/CALCITONIN-RELATED POLYPEPTIDE, ALPHA; CALCA

114290 CAMPOMELIC DYSPLASIA

114450 CANCER, FAMILIAL, WITH IN VITRO RADIORESISTANCE

114480 BREAST CANCER

119530 OROFACIAL CLEFT 1; OFC1

124092 INTERLEUKIN 10; IL10

125853 DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM

134820 FIBRINOGEN, A ALPHA POLYPEPTIDE; FGA

134934 FIBROBLAST GROWTH FACTOR RECEPTOR 3; FGFR3

137800 GLIOMA OF BRAIN, FAMILIAL

138040 GLUCOCORTICOID RECEPTOR; GCCR

139320 GNAS COMPLEX LOCUS; GNAS

147545 INSULIN RECEPTOR SUBSTRATE 1; IRS1

151660 LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2; FPLD2

151670 LIPASE, HEPATIC; LIPC

153450 LYSOZYME; LYZ

153870 MACULAR DYSTROPHY, CONCENTRIC ANNULAR

155255 MEDULLOBLASTOMA; MDB

161400 NARCOLEPSY 1; NRCLP1

164280 FEINGOLD SYNDROME

164840 V-MYC AVIAN MYELOCYTOMATOSIS VIRAL-RELATED ONCOGENE, NEUROBLASTOMA-DERIVED;

176300 TRANSTHYRETIN; TTR

181500 SCHIZOPHRENIA; SCZD

185900 SYNDACTYLY, TYPE I

188050 THROMBOPHILIA

190232 TRANSITION PROTEIN 2; TNP2

212750 CELIAC DISEASE; CD

213700 CEREBROTENDINOUS XANTHOMATOSIS

251120 METHYLMALONYL-CoA EPIMERASE DEFICIENCY

265380 PULMONARY HYPERTENSION, FAMILIAL PERSISTENT, OF THE NEWBORN

300178 AC-LIKE TRANSPOSABLE ELEMENT; ALTE

300388 POLYMICROGYRIA, BILATERAL PERISYLVIAN; BPP

300640 INVASIVE PNEUMOCOCCAL DISEASE, RECURRENT ISOLATED, 2; IPD2

309520 LUJAN-FRYNS SYNDROME

600965 DEAFNESS, AUTOSOMAL DOMINANT 6; DFNA6

601222 CRANIOSYNOSTOSIS, PHILADELPHIA TYPE

601634 NEURAL TUBE DEFECTS, FOLATE-SENSITIVE

601665 OBESITY

601886 ACHAETE-SCUTE COMPLEX, DROSOPHILA, HOMOLOG OF, 2; ASCL2

602025 BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 9; BMIQ9

602860 BUDDING UNINHIBITED BY BENZIMIDAZOLES 1, S. CEREVISIAE, HOMOLOG OF,

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

603426 PERIOD, DROSOPHILA, HOMOLOG OF, 2; PER2

604882 NEUROGENIN 3; NEUROG3

605638 BACULOVIRAL IAP REPEAT-CONTAINING PROTEIN 6; BIRC6

606201 WFS1 GENE; WFS1

607022 CCCTC-BINDING FACTOR-LIKE PROTEIN; CTCFL

607202 CELIAC DISEASE, SUSCEPTIBILITY TO, 5; CELIAC5

608446 MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO, 1

608557 MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO, 2

609338 CAROTID INTIMAL MEDIAL THICKNESS 1

609723 YIPPEE-LIKE 2; YPEL2

609734 PROOPIOMELANOCORTIN DEFICIENCY

609746 RHO GTPase-ACTIVATING PROTEIN 10; ARHGAP10

609753 CELIAC DISEASE, SUSCEPTIBILITY TO, 4; CELIAC4

609754 CELIAC DISEASE, SUSCEPTIBILITY TO, 2; CELIAC2

609755 CELIAC DISEASE, SUSCEPTIBILITY TO, 3; CELIAC3

609830 REMOVED FROM DATABASE

610181 AICARDI-GOUTIERES SYNDROME 2; AGS2

610326 RIBONUCLEASE H2, SUBUNIT B; RNASEH2B

610370 DIARRHEA 4, MALABSORPTIVE, CONGENITAL

610438 RESTLESS LEGS SYNDROME, SUSCEPTIBILITY TO, 3

610463 NUCLEAR UNDECAPRENYL PYROPHOSPHATE SYNTHASE 1, S. CEREVISIAE, HOMOLOG

610556 HIGHLY ACCELERATED REGION GENE 1A; HAR1A

610557 HIGHLY ACCELERATED REGION GENE 1B; HAR1B

610643 KIAA1524 GENE; KIAA1524

610751 PHOSPHORIBOSYL TRANSFERASE DOMAIN-CONTAINING PROTEIN 1; PRTFDC1

610988 LEPROSY, SUSCEPTIBILITY TO, 4

611162 MALARIA, SUSCEPTIBILITY TO

611529 CYTOCHROME P450, FAMILY 2, SUBFAMILY S, POLYPEPTIDE 1; CYP2S1

611532 NUCLEOLAR PROTEIN 6; NOL6

611533 NUCLEOLAR PROTEIN 7; NOL7

611598 CELIAC DISEASE, SUSCEPTIBILITY TO, 6; CELIAC6

612005 CELIAC DISEASE, SUSCEPTIBILITY TO, 7; CELIAC7

612006 CELIAC DISEASE, SUSCEPTIBILITY TO, 8; CELIAC8

612007 CELIAC DISEASE, SUSCEPTIBILITY TO, 9; CELIAC9

612008 CELIAC DISEASE, SUSCEPTIBILITY TO, 10; CELIAC10

612009 CELIAC DISEASE, SUSCEPTIBILITY TO, 11; CELIAC11

612010 CELIAC DISEASE, SUSCEPTIBILITY TO, 12; CELIAC12

612011 CELIAC DISEASE, SUSCEPTIBILITY TO, 13; CELIAC13

612511 MICRO RNA 101-1; MIRN101-1

612514 SPECIFIC LANGUAGE IMPAIRMENT 4; SLI4

612515 CHROMOSOME 2 OPEN READING FRAME 37; C2ORF37

612516 UVEAL AUTOANTIGEN WITH COILED-COIL DOMAINS AND ANKYRIN REPEATS; UACA

612517 KINTOUN, MEDAKA, HOMOLOG OF; KTU

612518 CILIARY DYSKINESIA, PRIMARY, 10; CILD10

612519 SOLUTE CARRIER FAMILY 35, MEMBER D3; SLC35D3

612520 DIABETES MELLITUS, INSULIN-DEPENDENT, 20; IDDM20

612521 DIABETES MELLITUS, INSULIN-DEPENDENT, 21; IDDM21

612523 IQ MOTIF-CONTAINING PROTEIN H: IQCH

Clinical Synopsis for 611929 CAMPTODACTYLY SYNDROME, GUADALAJARA, TYPE III

January 7, 2009

New Entries:

612520 DIABETES MELLITUS, INSULIN-DEPENDENT, 20; IDDM20

612521 DIABETES MELLITUS, INSULIN-DEPENDENT, 21; IDDM21

612522 DIABETES MELLITUS, INSULIN-DEPENDENT, 22; IDDM22

612523 IQ MOTIF-CONTAINING PROTEIN H: IQCH

612524 RIBONUCLEASE P/MRP, 21-KD SUBUNIT; RPP21

Clinical Synopsis for 300712 CRANIOFACIOSKELETAL SYNDROME

Clinical Synopsis for 611929 CAMPTODACTYLY SYNDROME, GUADALAJARA, TYPE III

Changed Entries:

100070 AORTIC ANEURYSM, ABDOMINAL

100640 ALDEHYDE DEHYDROGENASE 1 FAMILY, MEMBER A1; ALDH1A1

100800 ACHONDROPLASIA; ACH

101000 NEUROFIBROMATOSIS, TYPE II; NF2

102582 SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 3; STAT3

102700 SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE,

102770 ADENOSINE MONOPHOSPHATE DEAMINASE 1; AMPD1

102772 ADENOSINE MONOPHOSPHATE DEAMINASE 3; AMPD3

103000 ADENYLATE KINASE 1; AK1

103050 ADENYLOSUCCINASE DEFICIENCY

103600 ALBUMIN; ALB

104000 ALOPECIA AREATA 1

104150 ALPHA-FETOPROTEIN; AFP

104170 N-ACETYL-ALPHA-D-GALACTOSAMINIDASE; NAGA

104200 ALPORT SYNDROME, AUTOSOMAL DOMINANT

104300 ALZHEIMER DISEASE; AD

104740 AMYLOID BETA A4 PRECURSOR PROTEIN-LIKE 1

104770 AMYLOID P COMPONENT, SERUM; APCS

105650 DIAMOND-BLACKFAN ANEMIA; DBA

106100 ANGIOEDEMA, HEREDITARY; HAE

106300 SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1; SPDA1

107400 PROTEASE INHIBITOR 1; PI

107670 APOLIPOPROTEIN A-II; APOA2

107680 APOLIPOPROTEIN A-I; APOA1

107720 APOLIPOPROTEIN C-III; APOC3

107730 APOLIPOPROTEIN B; APOB

114480 BREAST CANCER

123890 CYTOTOXIC T LYMPHOCYTE-ASSOCIATED 4; CTLA4

133430 ESTROGEN RECEPTOR 1; ESR1

147620 INTERLEUKIN 6; IL6

157100 MOVED TO 193220

164870 V-ERB-B2 AVIAN ERYTHROBLASTIC LEUKEMIA VIRAL ONCOGENE HOMOLOG 2; ERBB2

166200 OSTEOGENESIS IMPERFECTA, TYPE I

167409 PAIRED BOX GENE 2; PAX2

182889 ZONA PELLUCIDA GLYCOPROTEIN 3; ZP3

184400 SPRENGEL DEFORMITY

191100 TUBEROUS SCLEROSIS; TS

207800 ARGININEMIA

209850 AUTISM

212750 CELIAC DISEASE; CD

216550 COHEN SYNDROME; COH1

219000 FRASER SYNDROME

222100 DIABETES MELLITUS, INSULIN-DEPENDENT; IDDM

235730 MOWAT-WILSON SYNDROME

300126 DYSKERIN; DKC1

300365 TOLL-LIKE RECEPTOR 7; TLR7

600268 APLASIA CUTIS CONGENITA WITH EPIBULBAR DERMOIDS

600323 REGULATOR OF G PROTEIN SIGNALING 1; RGS1

600552 CHEMOKINE, C MOTIF, RECEPTOR 1; XCR1

601452 OCULOAURICULOFRONTONASAL SYNDROME; OAFNS

601487 PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-GAMMA; PPARG

601663 ESTROGEN RECEPTOR 2; ESR2

603666 SYNTAXIN 16; STX16

604115 KCNQ1-OVERLAPPING TRANSCRIPT 1; KCNQ1OT1

605093 SH2B ADAPTOR PROTEIN 3; SH2B3

605181 TRANSMEMBRANE 7 SUPERFAMILY, MEMBER 3; TM7SF3

605474 TOLL-LIKE RECEPTOR 9; TLR9

605552 ABDOMINAL OBESITY-METABOLIC SYNDROME

605700 TRIPARTITE MOTIF-CONTAINING PROTEIN 39; TRIM39

607817 COH1 GENE; COH1

607830 FRAS1 GENE; FRAS1

608313 ARGINASE, LIVER; ARG1

608945 FRAS1-RELATED EXTRACELLULAR MATRIX PROTEIN 2; FREM2

609667 T-CELL ACTIVATION GTPase-ACTIVATING PROTEIN; TAGAP

609830 REMOVED FROM DATABASE

611929 CAMPTODACTYLY SYNDROME, GUADALAJARA, TYPE III

612005 CELIAC DISEASE, SUSCEPTIBILITY TO, 7; CELIAC7

612011 CELIAC DISEASE, SUSCEPTIBILITY TO, 13; CELIAC13

612520 DIABETES MELLITUS, INSULIN-DEPENDENT, 20; IDDM20

Clinical Synopsis for 157100 MOVED TO 193220

Clinical Synopsis for 193220 VITREORETINOCHOROIDOPATHY; VRCP

Clinical Synopsis for 612350 SPONDYLOCHEIRODYSPLASIA, EHLERS-DANLOS SYNDROME-LIKE

Clinical Synopsis for 612394 BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS

January 6, 2009

New Entries:

612516 UVEAL AUTOANTIGEN WITH COILED-COIL DOMAINS AND ANKYRIN REPEATS; UACA

612517 KINTOUN, MEDAKA, HOMOLOG OF; KTU

612518 CILIARY DYSKINESIA, PRIMARY, 10; CILD10

612519 SOLUTE CARRIER FAMILY 35, MEMBER D3; SLC35D3

Changed Entries:

155600 MELANOMA, CUTANEOUS MALIGNANT; CMM

157100 MOVED TO 193220

164210 HEMIFACIAL MICROSOMIA; HFM

172471 PHOSPHORYLASE KINASE, TESTIS/LIVER, GAMMA-2; PHKG2

191100 TUBEROUS SCLEROSIS; TS

191135 TUBULIN, GAMMA-1; TUBG1

193220 VITREORETINOCHOROIDOPATHY; VRCP

193300 VON HIPPEL-LINDAU SYNDROME; VHL

225410 EHLERS-DANLOS SYNDROME, TYPE VII, AUTOSOMAL RECESSIVE

243800 JOHANSON-BLIZZARD SYNDROME; JBS

244400 CILIARY DYSKINESIA, PRIMARY, 1; CILD1

252300 MORQUIO SYNDROME C

306000 GLYCOGEN STORAGE DISEASE IXa

601546 PROSPERO-RELATED HOMEOBOX 1; PROX1

601618 SRY-BOX 18; SOX18

605981 UBIQUITIN-PROTEIN LIGASE E3 COMPONENT N-RECOGNIN 1; UBR1

606351 ESPIN, MOUSE, HOMOLOG OF; ESPN

607854 BESTROPHIN 1; BEST1

607872 CHROMOSOME 1p36 DELETION SYNDROME

608507 MITOFUSIN 2; MFN2

609006 DEAFNESS, AUTOSOMAL RECESSIVE 36; DFNB36

609610 TUBULIN-GAMMA COMPLEX-ASSOCIATED PROTEIN 4; TUBGCP4

610125 MICROPHTHALMIA, SYNDROMIC 5; MCOPS5

610168 LOEYS-DIETZ SYNDROME, TYPE 1B; LDS1B

610380 LOEYS-DIETZ SYNDROME, TYPE 2B; LDS2B

610511 SEC23, S. CEREVISIAE, HOMOLOG OF, A; SEC23A

612516 UVEAL AUTOANTIGEN WITH COILED-COIL DOMAINS AND ANKYRIN REPEATS; UACA

January 5, 2009

Changed Entries:

102776 ADENOSINE A2 RECEPTOR; ADORA2A

159460 MYELIN-ASSOCIATED GLYCOPROTEIN; MAG

164345 OLIGODENDROCYTE-MYELIN GLYCOPROTEIN; OMG

176872 MITOGEN-ACTIVATED PROTEIN KINASE KINASE 1; MAP2K1

212750 CELIAC DISEASE; CD

231070 GERODERMA OSTEODYSPLASTICUM; GO

305450 OPITZ-KAVEGGIA SYNDROME; OKS

600594 DIGEORGE SYNDROME CRITICAL REGION GENE 2; DGCR2

600983 NUCLEAR RECEPTOR SUBFAMILY 3, GROUP C, MEMBER 2; NR3C2

601231 FKBP12-RAPAMYCIN COMPLEX-ASSOCIATED PROTEIN 1; FRAP1

601570 WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 7A; WNT7A

601728 PHOSPHATASE AND TENSIN HOMOLOG; PTEN

601795 MITOGEN-ACTIVATED PROTEIN KINASE 3; MAPK3

601925 RHO GDP-DISSOCIATION INHIBITOR ALPHA; ARHGDIA

601967 WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 7B; WNT7B

602048 RAS-RELATED C3 BOTULINUM TOXIN SUBSTRATE 1; RAC1

602129 MYOSIN IXB; MYO9B

602330 ACTIN-BINDING LIM PROTEIN FAMILY, MEMBER 1; ABLIM1

603422 PDZ AND LIM DOMAIN PROTEIN 4; PDLIM4

603423 PR DOMAIN-CONTAINING PROTEIN 1; PRDM1

603474 RIBOSOMAL PROTEIN S19; RPS19

604475 RETICULON 4; RTN4

604820 LEUKOCYTE IMMUNOGLOBULIN-LIKE RECEPTOR, SUBFAMILY B, MEMBER 3; LILRB3

604843 SOLUTE CARRIER ORGANIC ANION TRANSPORTER FAMILY, MEMBER 1B1; SLCO1B1

605284 TSC1 GENE; TSC1

605708 RHO GUANINE NUCLEOTIDE EXCHANGE FACTOR 11; ARHGEF11

606425 EGL9, C. ELEGANS, HOMOLOG OF, 1; EGLN1

606650 GLUTAMATE RECEPTOR, IONOTROPIC, N-METHYL-D-ASPARTATE 3A; GRIN3A

606651 GLUTAMATE RECEPTOR, IONOTROPIC, N-METHYL-D-ASPARTATE 3B; GRIN3B

607144 ASPARAGINE-LINKED GLYCOSYLATION 12, S. CEREVISIAE, HOMOLOG OF; ALG12

608212 IMMUNITY-RELATED GTPase FAMILY, M; IRGM

609193 PEPTIDYL-PROLYL ISOMERASE-LIKE 5; PPIL5

609753 CELIAC DISEASE, SUSCEPTIBILITY TO, 4; CELIAC4

609820 ERYTHROCYTOSIS, FAMILIAL, 3

610463 NUCLEAR UNDECAPRENYL PYROPHOSPHATE SYNTHASE 1, S. CEREVISIAE, HOMOLOG

610643 KIAA1524 GENE; KIAA1524