OMIM Update List for March, 2004

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Nucleotide

Protein

Genome

OMIM Update List for March, 2004

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March 31, 2004
New Entries:: Clinical Synopsis for 608217 EPILEPSY, BENIGN NEONATAL, 3; EBN3; Clinical Synopsis for 608219 DEAFNESS, CONGENITAL NEUROSENSORY, AUTOSOMAL RECESSIVE 38; Clinical Synopsis for 608264 DEAFNESS, CONGENITAL NEUROSENSORY, AUTOSOMAL RECESSIVE 40; DFNB40; Clinical Synopsis for 608265 DEAFNESS, CONGENITAL NEUROSENSORY, AUTOSOMAL RECESSIVE 39; DFNB39
Changed Entries:: 123812 cAMP RESPONSE ELEMENT MODULATOR; CREM; 123970 CYTOCHROME C, SOMATIC; CYCS; 137295 GATA-BINDING PROTEIN 2; GATA2; 138295 GLUTAMYL-PROLYL-tRNA SYNTHETASE; EPRS; 158590 NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE II; 158600 SPINAL MUSCULAR ATROPHY, CHILDHOOD, PROXIMAL, AUTOSOMAL DOMINANT; 176730 INSULIN; INS; 182960 MOVED TO 158590; 182980 SPINAL MUSCULAR ATROPHY, PROXIMAL, ADULT, AUTOSOMAL DOMINANT; 193060 VIMENTIN; VIM; 271150 SPINAL MUSCULAR ATROPHY, TYPE IV; SMA4; 300011 ATPase, Cu(2+)-TRANSPORTING, ALPHA POLYPEPTIDE; ATP7A; 300017 FILAMIN A; FLNA; 300075 RIBOSOMAL PROTEIN S6 KINASE, 90-KD, 3; RPS6KA3; 561000 RIBOSOMAL RNA, MITOCHONDRIAL, 12S; MTRNR1; 600091 MOVED TO 158600; 600175 SPINAL MUSCULAR ATROPHY, CONGENITAL NONPROGRESSIVE, OF LOWER LIMBS; 600262 PROSTAGLANDIN-ENDOPEROXIDE SYNTHASE 2; PTGS2; 600354 SURVIVAL OF MOTOR NEURON 1, TELOMERIC; SMN1; 600799 BONE MORPHOGENETIC PROTEIN RECEPTOR, TYPE II; BMPR2; 601145 CYSTATIN B; CSTB; 601146 GROWTH/DIFFERENTIATION FACTOR 5; GDF5; 601299 BONE MORPHOGENETIC PROTEIN RECEPTOR, TYPE IA; BMPR1A; 601684 RIBOSOMAL PROTEIN S6 KINASE, 90-KD, 1; RPS6KA1; 601685 RIBOSOMAL PROTEIN S6 KINASE, 90-KD, 2; RPS6KA2; 602681 FORKHEAD IN RHABDOMYOSARCOMA-LIKE 1; FOXO3A; 602913 POLO-LIKE KINASE 3; PLK3; 603248 BONE MORPHOGENETIC PROTEIN RECEPTOR, TYPE IB; BMPR1B; 603381 FILAMIN B; FLNB; 604110 G PROTEIN-COUPLED RECEPTOR 56; GPR56; 604479 SIRTUIN 1; SIRT1; 606127 MYOCARDIN; MYOCD; 606158 BSCL2 GENE; BSCL2; 606447 RNA-BINDING PROTEIN S1; RNPS1; 606854 POLYMICROGYRIA, BILATERAL FRONTOPARIETAL; 607006 GEM-ASSOCIATED PROTEIN 6; GEMIN6; 607088 SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE; 607419 GEM-ASSOCIATED PROTEIN 7; GEMIN7; 608226 NANOS, DROSOPHILA, HOMOLOG OF, 1; Clinical Synopsis for 123150 JACKSON-WEISS SYNDROME; JWS; Clinical Synopsis for 261100 MEGALOBLASTIC ANEMIA 1; MGA1; Clinical Synopsis for 606854 POLYMICROGYRIA, BILATERAL FRONTOPARIETAL

March 30, 2004
New Entries:: 608556 LEGIONNAIRE DISEASE, SUSCEPTIBILITY TO; 608557 MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO, 2
Changed Entries:: 113650 BRANCHIOOTORENAL DYSPLASIA; 118945 CILIARY NEUROTROPHIC FACTOR; CNTF; 126455 SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER, DOPAMINE),; 131100 MULTIPLE ENDOCRINE NEOPLASIA, TYPE I; MEN1; 131242 ENDOTHELIN 3; EDN3; 131244 ENDOTHELIN RECEPTOR, TYPE B; EDNRB; 143465 ATTENTION DEFICIT-HYPERACTIVITY DISORDER; ADHD; 151443 LEUKEMIA INHIBITORY FACTOR RECEPTOR; LIFR; 151740 ANNEXIN A2; ANXA2; 156490 NONMETASTATIC CELLS 1, PROTEIN EXPRESSED IN; NME1; 156491 NONMETASTATIC CELLS 2, PROTEIN EXPRESSED IN; NME2; 159440 MYELIN PROTEIN ZERO; MPZ; 160781 MYOSIN, LIGHT CHAIN 2, REGULATORY, CARDIAC, SLOW; MYL2; 160790 MYOSIN, LIGHT CHAIN 3, ALKALI, VENTRICULAR, SKELETAL, SLOW; MYL3; 163950 NOONAN SYNDROME 1; NS1; 176876 PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 11; PTPN11; 180200 RETINOBLASTOMA; RB1; 192600 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC; CMH; 277580 WAARDENBURG-SHAH SYNDROME; 300005 METHYL-CpG-BINDING PROTEIN 2; MECP2; 300021 MOVED TO 301830; 300425 AUTISM, X-LINKED; 300427 NEUROLIGIN 4; NLGN4; 312750 RETT SYNDROME; RTT; 601653 EYES ABSENT 1; EYA1; 601817 NONMETASTATIC CELLS 3, PROTEIN EXPRESSED IN; NME3; 601818 NONMETASTATIC CELLS 4, PROTEIN EXPRESSED IN; NME4; 602229 SRY-BOX 10; SOX10; 603031 TOLL-LIKE RECEPTOR 5; TLR5; 603700 ARACHIDONATE 5-LIPOXYGENASE-ACTIVATING PROTEIN; ALOX5AP; 603903 SICKLE CELL ANEMIA; 603941 SOLUTE CARRIER FAMILY 19 (THIAMINE TRANSPORTER), MEMBER 2; SLC19A2; 604570 SHROOM, MOUSE, HOMOLOG OF; 605511 TRANSMEMBRANE PROTEASE, SERINE 3; TMPRSS3; 608118 ZINC IN BREAST MILK, REDUCED; 608278 GROWTH FAILURE, MICROCEPHALY, MENTAL RETARDATION, CATARACTS, LARGE; 608406 VATER-LIKE DEFECTS WITH PULMONARY HYPERTENSION, LARYNGEAL WEBS, AND; 608443 MENTAL RETARDATION, NONSYNDROMIC, AUTOSOMAL RECESSIVE, 3; 608446 MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO, 1; Clinical Synopsis for 108120 ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 1; AMCD1; Clinical Synopsis for 108145 ARTHROGRYPOSIS WITH OCULOMOTOR LIMITATION AND ELECTRORETINAL ABNORMALITIES; Clinical Synopsis for 113450 BRACHYDACTYLY-DISTAL SYMPHALANGISM SYNDROME; Clinical Synopsis for 113620 BRANCHIAL CLEFTS WITH CHARACTERISTIC FACIES, GROWTH RETARDATION, IMPERFORATE; Clinical Synopsis for 114300 CAMPTODACTYLY, CLEFT PALATE, AND CLUBFOOT; Clinical Synopsis for 115150 CARDIOFACIOCUTANEOUS SYNDROME; Clinical Synopsis for 122470 CORNELIA DE LANGE SYNDROME 1; CDL1; Clinical Synopsis for 123790 CUTIS GYRATA SYNDROME OF BEARE AND STEVENSON; Clinical Synopsis for 130070 EHLERS-DANLOS SYNDROME, PROGEROID FORM; Clinical Synopsis for 135900 FIFTH DIGIT SYNDROME; Clinical Synopsis for 156400 METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE; Clinical Synopsis for 161700 NECROTIZING ENCEPHALOMYELOPATHY, SUBACUTE, OF LEIGH, ADULT; Clinical Synopsis for 163950 NOONAN SYNDROME 1; NS1; Clinical Synopsis for 180849 RUBINSTEIN-TAYBI SYNDROME; RSTS; Clinical Synopsis for 186500 MULTIPLE SYNOSTOSES SYNDROME 1; SYNS1; Clinical Synopsis for 190685 DOWN SYNDROME; Clinical Synopsis for 194190 WOLF-HIRSCHHORN SYNDROME; WHS; Clinical Synopsis for 201250 ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE; Clinical Synopsis for 210600 SECKEL SYNDROME; Clinical Synopsis for 210710 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I; Clinical Synopsis for 214100 ZELLWEGER SYNDROME; ZS; Clinical Synopsis for 216340 CLEIDOCRANIAL DYSPLASIA WITH MICROGNATHIA, ABSENT THUMBS, AND DISTAL; Clinical Synopsis for 216550 COHEN SYNDROME; COH1; Clinical Synopsis for 218040 COSTELLO SYNDROME; Clinical Synopsis for 235510 HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME; Clinical Synopsis for 243800 JOHANSON-BLIZZARD SYNDROME; JBS; Clinical Synopsis for 247200 MILLER-DIEKER LISSENCEPHALY SYNDROME; MDLS; Clinical Synopsis for 261540 PETERS-PLUS SYNDROME; Clinical Synopsis for 269150 SCHINZEL-GIEDION MIDFACE-RETRACTION SYNDROME; Clinical Synopsis for 300021 MOVED TO 301830; Clinical Synopsis for 300209 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2; Clinical Synopsis for 302380 CATEL-MANZKE SYNDROME; Clinical Synopsis for 303600 COFFIN-LOWRY SYNDROME; CLS; Clinical Synopsis for 305400 FACIOGENITAL DYSPLASIA; Clinical Synopsis for 305450 FG SYNDROME; FGS1; Clinical Synopsis for 312860 SCOTT CRANIODIGITAL SYNDROME WITH MENTAL RETARDATION; Clinical Synopsis for 601803 PALLISTER-KILLIAN SYNDROME; PKS; Clinical Synopsis for 603165 DERMATITIS, ATOPIC; Clinical Synopsis for 607552 MINICORE MYOPATHY, ANTENATAL ONSET, WITH ARTHROGRYPOSIS

March 29, 2004
New Entries:: 608553 LEBER CONGENITAL AMAUROSIS, TYPE IX; 608554 HLH-PAS TRANSCRIPTION FACTOR NXF; 608555 METAXIN 2; MTX2
Changed Entries:: 106150 ANGIOTENSIN I; AGT; 130660 ELASTIN MICROFIBRIL INTERFACER 1; EMILIN1; 191845 UROMODULIN; UMOD; 204000 LEBER CONGENITAL AMAUROSIS, TYPE I; LCA1; 253400 SPINAL MUSCULAR ATROPHY, TYPE III; SMA3; 300021 MOVED TO 301830; 300365 TOLL-LIKE RECEPTOR 7; TLR7; 300366 TOLL-LIKE RECEPTOR 8; TLR8; 300473 NUCLEAR RECEPTOR SUBFAMILY 0, GROUP B, MEMBER 1; NR0B1; 301830 ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, X-LINKED; 600409 PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-DELTA; PPARD; 600794 SPINAL MUSCULAR ATROPHY, DISTAL, TYPE V; DSMAV; 602170 MYELOID DIFFERENTIATION PRIMARY RESPONSE GENE 88; MYD88; 604766 PODOCIN; NPHS2; 605367 ELAC, E. COLI, HOMOLOG OF, 2; ELAC2; 605446 RETINITIS PIGMENTOSA GTPase REGULATOR-INTERACTING PROTEIN; RPGRIP1; 608147 TUBULIN-GAMMA COMPLEX-ASSOCIATED PROTEIN 5; TUBGCP5; 608543 SCHIZOPHRENIA 12; 608553 LEBER CONGENITAL AMAUROSIS, TYPE IX

March 26, 2004
New Entries:: 300488 MENOPAUSE, NATURAL, AGE AT
Changed Entries:: 102582 SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 3; STAT3; 118945 CILIARY NEUROTROPHIC FACTOR; CNTF; 141749 HEMOGLOBIN F, HEREDITARY PERSISTENCE OF, PANCELLULAR; 220110 COMPLEX IV, MITOCHONDRIAL RESPIRATORY CHAIN, DEFICIENCY OF; 231000 GAUCHER DISEASE, TYPE III; 300095 SOLUTE CARRIER FAMILY 16 (MONOCARBOXYLIC ACID TRANSPORTER), MEMBER; 601487 PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-GAMMA; PPARG; 604517 PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-GAMMA, COACTIVATOR 1; PPARGC1

March 25, 2004
New Entries:: 608540 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ik; 608549 VACUOLAR PROTEIN SORTING 11, YEAST, HOMOLOG OF; VPS11; 608550 VACUOLAR PROTEIN SORTING 16, YEAST, HOMOLOG OF; VPS16; 608551 VACUOLAR PROTEIN SORTING 18, YEAST, HOMOLOG OF; VPS18; 608552 VACUOLAR PROTEIN SORTING 33, YEAST, HOMOLOG OF, B; VPS33B
Changed Entries:: 114025 CATENIN, ALPHA-2; CTNNA2; 116860 CEREBRAL CAVERNOUS MALFORMATIONS; CCM; 147450 SUPEROXIDE DISMUTASE 1; SOD1; 182305 SOLUTE CARRIER FAMILY 8 (SODIUM-CALCIUM EXCHANGER), MEMBER 1; SLC8A1; 192240 VASCULAR ENDOTHELIAL GROWTH FACTOR; VEGF; 263400 ERYTHROCYTOSIS, AUTOSOMAL RECESSIVE BENIGN; 603030 TOLL-LIKE RECEPTOR 4; TLR4; 603859 SOLUTE CARRIER FAMILY 25 (CITRIN), MEMBER 13; SLC25A13; 604214 CCM1 GENE; CCM1; 604475 RETICULON 4; RTN4; 604970 AURORA KINASE B; AURKB; 605907 ALG1, YEAST, HOMOLOG OF; ALG1; 605978 VACUOLAR PROTEIN SORTING 13, YEAST, HOMOLOG OF, A; VPS13A; 606270 TOLL-LIKE RECEPTOR 10; TLR10; 606931 VACUOLAR PROTEIN SORTING 35, YEAST, HOMOLOG OF; VPS35; 606932 VACUOLAR PROTEIN SORTING 29, YEAST, HOMOLOG OF; VPS29

March 24, 2004
New Entries:: 608542 ANEURYSM, INTRACRANIAL BERRY, 2; 608543 SCHIZOPHRENIA 12; 608547 VITAMIN K EPOXIDE REDUCTASE COMPLEX, SUBUNIT 1; VKORC1; 608548 HEMICENTIN
Changed Entries:: 102910 ATP SYNTHASE, H+ TRANSPORTING, MITOCHONDRIAL F1 COMPLEX, BETA SUBUNIT;; 105800 ANEURYSM, INTRACRANIAL BERRY, 1; 108729 ATP SYNTHASE, H+ TRANSPORTING, MITOCHONDRIAL F1 COMPLEX, GAMMA SUBUNIT; 118220 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A; CMT1A; 122700 COUMARIN RESISTANCE; 126450 DOPAMINE RECEPTOR D2; DRD2; 164230 OBSESSIVE-COMPULSIVE DISORDER 1; OCD1; 164360 ATP SYNTHASE, H+ TRANSPORTING, MITOCHONDRIAL F1 COMPLEX, ALPHA SUBUNIT,; 165330 WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 3; WNT3; 176871 PROTEIN KINASE, INTERFERON-INDUCIBLE DOUBLE-STRANDED RNA-ACTIVATED;; 179410 RADIXIN; RDX; 181500 SCHIZOPHRENIA; SCZD; 182138 SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER, SEROTONIN),; 273395 TETRA-AMELIA, AUTOSOMAL RECESSIVE; 301090 TETRA-AMELIA, X-LINKED; 600049 MDS1 GENE; MDS1; 600483 FIBROBLAST GROWTH FACTOR 8; FGF8; 601439 ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 9; ABCC9; 601509 GAMMA-GLUTAMYL HYDROLASE; GGH; 603075 MACULAR DEGENERATION, AGE-RELATED, 1; ARMD1; 604579 FRIZZLED, DROSOPHILA, HOMOLOG OF, 4; FZD4; 604586 SYNTAXIN-BINDING PROTEIN 5; STXBP5; 604753 ZINC FINGER PROTEIN 268; ZNF268; 604831 EVC GENE; EVC; 604896 MKKS GENE; MKKS; 604928 WFS2 GENE; WFS2; 605903 PDZ AND LIM DOMAIN 7; PDLIM7; 606024 MOVED TO 604753; 606201 WFS1 GENE; WFS1; 606416 CIAS1 GENE; CIAS1; 606844 ALMS1 GENE; ALMS1; 607115 CINCA SYNDROME; CINCA; 607261 EVC2 GENE; EVC2; 607305 MDS2 GENE; 607473 VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 2; 608489 STROMALIN 3; STAG3; 608516 MAJOR DEPRESSIVE DISORDER; MDD

March 23, 2004
New Entries:: 608537 VHL GENE; VHL; 608544 HISTONE DEACETYLASE 10; HDAC10; 608545 LARSEN-LIKE SYNDROME; 608546 DEAD/H BOX 48; DDX48
Changed Entries:: 102582 SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 3; STAT3; 108720 ATELOSTEOGENESIS, TYPE I; AOI; 108721 ATELOSTEOGENESIS, TYPE III; AOIII; 108733 ATPase, Ca(2+)-TRANSPORTING, PLASMA MEMBRANE, 2; ATP2B2; 114131 CALCITONIN RECEPTOR; CALCR; 115310 CAROTID BODY TUMORS AND MULTIPLE EXTRAADRENAL PHEOCHROMOCYTOMAS; 126375 DNA METHYLTRANSFERASE 1; DNMT1; 135150 BIRT-HOGG-DUBE SYNDROME; BHD; 144700 RENAL CELL CARCINOMA 1; RCC1; 150250 LARSEN SYNDROME, AUTOSOMAL DOMINANT; LRS1; 155720 MELANOMA, UVEAL; 162643 CHEMOKINE, CXC MOTIF, RECEPTOR 4; CXCR4; 164761 REARRANGED DURING TRANSFECTION PROTOONCOGENE; RET; 168000 PARAGANGLIOMAS, FAMILIAL NONCHROMAFFIN, 1; PGL1; 171300 PHEOCHROMOCYTOMA; 171350 PHEOCHROMOCYTOMA, FAMILIAL EXTRAADRENAL; 176981 GUANINE NUCLEOTIDE-BINDING PROTEIN, BETA-2-LIKE 1; GNB2L1; 179755 RENAL CELL CARCINOMA, PAPILLARY, 1 GENE; PRCC; 182305 SOLUTE CARRIER FAMILY 8 (SODIUM-CALCIUM EXCHANGER), MEMBER 1; SLC8A1; 185470 SUCCINATE DEHYDROGENASE COMPLEX, SUBUNIT B, IRON SULFUR PROTEIN; SDHB; 186852 PROTEASOME 26S SUBUNIT, ATPase, 3; PSMC3; 191092 TUBEROUS SCLEROSIS 2 GENE; TSC2; 193300 VON HIPPEL-LINDAU SYNDROME; VHL; 209850 AUTISM, SUSCEPTIBILITY TO, 1; AUTS1; 212065 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia; 232300 GLYCOGEN STORAGE DISEASE II; 256050 NEONATAL OSSEOUS DYSPLASIA I; 272460 SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME; 300005 METHYL-CpG-BINDING PROTEIN 2; MECP2; 300013 N-ACETYLTRANSFERASE ARD1, S. CEREVISIAE, HOMOLOG OF; DXS707; 300133 VON HIPPEL-LINDAU BINDING PROTEIN 1; VBP1; 475000 GROWTH CONTROL, Y-CHROMOSOME INFLUENCED; GCY; 600114 CHAPERONIN CONTAINING T-COMPLEX POLYPEPTIDE 1, SUBUNIT 3; CCT3; 600152 SEC13-RELATED GENE; 600185 BREAST CANCER 2 GENE; BRCA2; 600284 ELONGATION FACTOR RNA POLYMERASE II; ELL; 600786 TRANSCRIPTION ELONGATION FACTOR B, 3; TCEB3; 600787 TRANSCRIPTION ELONGATION FACTOR B, 2; TCEB2; 600788 TRANSCRIPTION ELONGATION FACTOR B, 1; TCEB1; 600993 MOTHERS AGAINST DECAPENTAPLEGIC, DROSOPHILA, HOMOLOG OF, 4; MADH4; 601785 PHOSPHOMANNOMUTASE 2; PMM2; 601874 ELONGATION FACTOR, RNA POLYMERASE II, 2; ELL2; 601982 8-@OXOGUANINE DNA GLYCOSYLASE; OGG1; 602603 MAGO NASHI, DROSOPHILA, HOMOLOG OF; MAGOH; 602690 SUCCINATE DEHYDROGENASE COMPLEX, SUBUNIT D, INTEGRAL MEMBRANE PROTEIN;; 602751 BTB AND CNC HOMOLOGY 1; BACH1; 602842 GEMININ; GMNN; 602911 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, GAMMA-2 SUBUNIT; CACNG2; 603040 TUMOR SUPPRESSOR GENE ON CHROMOSOME 11; 603044 PLEOMORPHIC ADENOMA GENE-LIKE 1; PLAGL1; 603046 TRANSLOCATION IN RENAL CARCINOMA ON CHROMOSOME 8; 603135 CULLIN 2; CUL2; 603348 HYPOXIA-INDUCIBLE FACTOR 1, ALPHA SUBUNIT; HIF1A; 603381 FILAMIN B; FLNB; 603598 TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 10; TNFSF10; 603814 RING-BOX 1; RBX1; 603881 NUCLEAR RECEPTOR SUBFAMILY 1, GROUP I, MEMBER 3; NR1I3; 604442 NONPAPILLARY RENAL CARCINOMA 1; 604708 NUCLEAR FACTOR OF ACTIVATED T CELLS 5; NFAT5; 604850 COP9, SUBUNIT 5; COPS5; 604989 SPONDIN 1; SPON1; 605074 RENAL CELL CARCINOMA, PAPILLARY; 605082 RAS ASSOCIATION DOMAIN FAMILY PROTEIN 1; RASSF1; 605221 FUS-INTERACTING PROTEIN 1; FUSIP1; 605284 TSC1 GENE; TSC1; 605882 BRCA1-INTERACTING PROTEIN 1; BRIP1; 606058 RAP GUANINE NUCLEOTIDE EXCHANGE FACTOR; RAPGEF4; 606202 MEMBRANE-ASSOCIATED TRANSPORTER PROTEIN; MATP; 606424 EGL9, C. ELEGANS, HOMOLOG OF, 2; EGLN2; 606425 EGL9, C. ELEGANS, HOMOLOG OF, 1; EGLN1; 606426 EGL9, C. ELEGANS, HOMOLOG OF, 3; EGLN3; 606504 CANCER SUSCEPTIBILITY CANDIDATE 3; CASC3; 606574 OCULOCUTANEOUS ALBINISM, TYPE IV; OCA4; 606615 HYPOXIA-INDUCIBLE FACTOR 1-ALPHA INHIBITOR; HIF1AN; 606661 MELANOMA, UVEAL, SUSCEPTIBILITY TO, 2; 606702 PKHD1 GENE; PKHD1; 607416 CHL1, MOUSE, HOMOLOG OF; CHL1; Clinical Synopsis for 108720 ATELOSTEOGENESIS, TYPE I; AOI; Clinical Synopsis for 108721 ATELOSTEOGENESIS, TYPE III; AOIII; Clinical Synopsis for 150250 LARSEN SYNDROME, AUTOSOMAL DOMINANT; LRS1; Clinical Synopsis for 272460 SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME

March 22, 2004
New Entries:: 608541 RHO GTPase INVOLVED IN BETA-CATENIN, N-CADHERIN, AND NMDA RECEPTOR
Changed Entries:: 136880 FUNDUS ALBIPUNCTATUS; 139210 GROWTH-MENTAL DEFICIENCY SYNDROME OF MYHRE; 155720 MELANOMA, UVEAL; 166710 OSTEOPOROSIS, INVOLUTIONAL; 177650 PSEUDOEXFOLIATION OF THE LENS; 177800 PSEUDOPAPILLEDEMA; 180090 RETINALDEHYDE-BINDING PROTEIN 1; RLBP1; 187360 TEMPORAL ARTERITIS; 210745 BLEPHAROPHIMOSIS WITH PTOSIS, SYNDACTYLY, AND SHORT STATURE; 227400 FACTOR V DEFICIENCY; 228930 FIBULAR APLASIA OR HYPOPLASIA, FEMORAL BOWING AND POLY-, SYN-, AND; 241200 BARTTER SYNDROME; 258660 OPTIC NEUROPATHY, ANTERIOR ISCHEMIC; 260565 PEHO SYNDROME; 270750 SPASTIC PARAPLEGIA 23; SPG23; 300166 OCULOFACIOCARDIODENTAL SYNDROME; 300412 MICROPHTHALMIA WITH ASSOCIATED ANOMALIES 2; 300485 BCL6 COREPRESSOR; BCOR; 303100 CHOROIDEREMIA; CHM; 516005 COMPLEX I, SUBUNIT ND5; MTND5; 600359 POTASSIUM CHANNEL, INWARDLY RECTIFYING, SUBFAMILY J, MEMBER 1; KCNJ1; 600726 INDIAN HEDGEHOG; IHH; 601398 VASCULAR ENDOTHELIAL GROWTH FACTOR B; VEGFB; 601849 APLASIA/HYPOPLASIA OF PELVIS, FEMUR, FIBULA, AND ULNA WITH ABNORMAL; 601881 RETINA AND ANTERIOR NEURAL FOLD GENE; RAX; 601884 HIGH BONE MASS; HBM; 602218 SAL-LIKE 1; SALL1; 602698 NUCLEAR FACTOR OF ACTIVATED T CELLS, CYTOPLASMIC, CALCINEURIN-DEPENDENT; 602699 NUCLEAR FACTOR OF ACTIVATED T CELLS, CYTOPLASMIC, CALCINEURIN-DEPENDENT; 602991 NOGGIN, MOUSE, HOMOLOG OF; NOG; 603506 LOW DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN 5; LRP5; 605747 ARH GENE; ARH

March 19, 2004
New Entries:: 608539 GLI-SIMILAR PROTEIN 2
Changed Entries:: 102370 ACROMICRIC DYSPLASIA; 107100 ANORECTAL ANOMALIES; 108600 ATAXIA, SPASTIC, AUTOSOMAL DOMINANT; SAX1; 110300 ABO BLOOD GROUP; ABO; 116950 TEMPERATURE-SENSITIVE AF8 COMPLEMENT; AF8T; 119530 OROFACIAL CLEFT 1; OFC1; 121800 CORNEAL DYSTROPHY, CRYSTALLINE, OF SCHNYDER; 123101 MUSCLE SEGMENT HOMEOBOX, DROSOPHILA, HOMOLOG OF, 2; MSX2; 127700 DYSLEXIA, SPECIFIC, 1; DYX1; 131290 ENGRAILED 1; EN1; 131310 ENGRAILED 2; EN2; 133020 ERYTHERMALGIA, FAMILIAL PRIMARY; 135000 FIBROCYSTIC PULMONARY DYSPLASIA; 136550 MACULAR DYSTROPHY, RETINAL, 1, NORTH CAROLINA TYPE; MCDR1; 142950 HOMEOBOX A7; HOXA7; 142960 HOMEOBOX B5; HOXB5; 142970 HOMEOBOX C8; HOXC8; 142983 MUSCLE SEGMENT HOMEOBOX, DROSOPHILA, HOMOLOG OF, 1; MSX1; 142991 EVEN-SKIPPED HOMEOBOX 2; EVX2; 145420 HYPERTELORISM, TEEBI TYPE; 146700 ICHTHYOSIS VULGARIS; 156850 MICROPHTHALMIA-CATARACT; 157300 MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1; 160500 MYOPATHY, DISTAL 1; MPD1; 160750 MYOSITIS; 161900 RENAL FAILURE, PROGRESSIVE, WITH HYPERTENSION; 162200 NEUROFIBROMATOSIS, TYPE I; NF1; 164100 NYSTAGMUS 2, CONGENITAL, AUTOSOMAL DOMINANT; NYS2; 164177 POU DOMAIN, CLASS 5, TRANSCRIPTION FACTOR 1; POU5F1; 175690 POLYSYNDACTYLY, CROSSED; 180202 JUMONJI, AT-RICH INTERATIVE DOMAIN 1A; JARID1A; 181405 AMYOTROPHY, NEUROGENIC SCAPULOPERONEAL, NEW ENGLAND TYPE; 182280 SMALL CELL CANCER OF THE LUNG; 183600 SPLIT-HAND/FOOT MALFORMATION 1; SHFM1; 186921 LIM DOMAIN ONLY 1; LMO1; 187500 TETRALOGY OF FALLOT; 189907 TRANSCRIPTION FACTOR 2; TCF2; 190320 TRICHODENTOOSSEOUS SYNDROME; 191550 URETER, BIFID OR DOUBLE; 194380 DEHYDRATED HEREDITARY STOMATOCYTOSIS; DHS; 194536 ZINC FINGER PROTEIN 12; ZNF12; 206780 ANODONTIA, COMPLETE, OF PERMANENT DENTITION; 208750 ATAXIA, DEAFNESS, AND CARDIOMYOPATHY; 210720 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II; 211350 KYPHOMELIC DYSPLASIA; 211420 BREAST CANCER, DUCTAL, 2; BRCD2; 213980 CEREBROFACIOTHORACIC DYSPLASIA; 221900 RETINAL NONATTACHMENT, NONSYNDROMIC CONGENITAL; RNANC; 223000 LACTASE DEFICIENCY, CONGENITAL; 231050 GELEOPHYSIC DYSPLASIA; 236400 HUMERORADIAL SYNOSTOSIS; 240500 COMMON VARIABLE IMMUNODEFICIENCY; 251600 MICROPHTHALMOS, AUTOSOMAL RECESSIVE; 251800 MICROTIA WITH MEATAL ATRESIA AND CONDUCTIVE DEAFNESS; 254770 MYOCLONIC EPILEPSY, JUVENILE, 1; EJM1; 256810 NEUROPATHY, CONGENITAL SENSORY, WITH NEUROTROPHIC KERATITIS; 257550 OCULAR MOTOR APRAXIA; 257850 OCULODENTOOSSEOUS DYSPLASIA, RECESSIVE; 271510 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SPONASTRIME TYPE; 271640 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY; SEMDJL; 271650 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, IRAPA TYPE; SEMDIT; 278700 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A; XPA; 278720 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C; XPC; 278740 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E; 300377 DYSTROPHIN; DMD; 312612 RETINITIS PIGMENTOSA 6; RP6; 314690 JUMONJI, AT-RICH INTERACTIVE DOMAIN 1C; JARID1C; 426000 JUMONJI, AT-RICH INTERACTIVE DOMAIN 1D; JARID1D; 600035 EMPTY SPIRACLES, DROSOPHILA, 2, HOMOLOG OF; EMX2; 600511 SCHIZOPHRENIA 3; SCZD3; 600535 MESENCHYME HOMEOBOX 2; MEOX2; 600884 CARDIOMYOPATHY, DILATED, 1B; CMD1B; 601388 DIABETES MELLITUS, INSULIN-DEPENDENT, 12; IDDM12; 601410 DIABETES MELLITUS, TRANSIENT NEONATAL; 601583 WILMS TUMOR SUPPRESSOR LOCUS; 601594 JUMONJI, AT-RICH INTERATIVE DOMAIN 2; JARID2; 601869 DEAFNESS, AUTOSOMAL RECESSIVE 15; DFNB15; 601881 RETINA AND ANTERIOR NEURAL FOLD GENE; RAX; 601999 LIM HOMEOBOX GENE 1; LHX1; 602082 CORNEAL DYSTROPHY OF BOWMAN LAYER, TYPE II; CDB2; 602149 PAIRED-LIKE HOMEODOMAIN TRANSCRIPTION FACTOR 1; PITX1; 602196 PIERRE ROBIN SEQUENCE WITH PECTUS EXCAVATUM AND RIB AND SCAPULAR ANOMALIES; 602225 CONE-ROD HOMEOBOX-CONTAINING GENE; CRX; 602499 MACROPHTHALMIA, COLOBOMATOUS, WITH MICROCORNEA; 602563 HOMEOBOX 6A, NK; NKX6A; 602783 PARAPLEGIN; SPG7; 603175 SCHIZOPHRENIA 5; SCZD5; 603386 THYROID CARCINOMA, NONMEDULLARY, WITH CELL OXYPHILIA; 603620 PC4- AND SFRS1-INTERACTING PROTEIN 1; PSIP1; 603851 PAIRED-LIKE HOMEOBOX 2B; PHOX2B; 603935 PSORIASIS SUSCEPTIBILITY 4; PSORS4; 604484 NEUROPATHY, HEREDITARY MOTOR AND SENSORY, OKINAWA TYPE; 604499 HYPERLIPIDEMIA, COMBINED, 2; 604537 LEBER CONGENITAL AMAUROSIS, TYPE V; 604559 PROGRESSIVE FAMILIAL HEART BLOCK, TYPE I, LOCUS 1; 604595 CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS ON CHROMOSOME 13; 604777 ICHTHYOSIS, LAMELLAR, 3; LI3; 604781 ICHTHYOSIS, NONLAMELLAR AND NONERYTHRODERMIC, CONGENITAL, AUTOSOMAL; 604801 MUSCULAR DYSTROPHY, CONGENITAL, 1B; 604804 MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 3; MCPH3; 604805 SPASTIC PARAPLEGIA 12, AUTOSOMAL DOMINANT; SPG12; 604809 PANBRONCHIOLITIS, DIFFUSE; 604827 MYOCLONIC EPILEPSY, JUVENILE, 2; EJM2; 604906 SCHIZOPHRENIA 9; SCZD9; 605013 MICROHYDRANENCEPHALY; MHAC; 605019 HYPOBETALIPOPROTEINEMIA, FAMILIAL, 2; 605021 MYOCLONIC EPILEPSY, INFANTILE; 605075 RENAL CELL CARCINOMA, PAPILLARY, 3; 605192 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 23; DFNA23; 605204 TORSIN-A; DYT1; 605229 SPASTIC PARAPLEGIA 14, AUTOSOMAL RECESSIVE; SPG14; 605244 CARNEY COMPLEX, TYPE II; CNC2; 605259 SPINOCEREBELLAR ATAXIA 13; 605284 TSC1 GENE; TSC1; 605285 NEUROPATHY, HEREDITARY MOTOR AND SENSORY, RUSSE TYPE; 605293 OPTIC ATROPHY 4; OPA4; 605362 CARDIOMYOPATHY, DILATED, 1J; CMD1J; 605364 PSORIASIS SUSCEPTIBILITY 6; 605365 BREAST CANCER 3; BRCA3; 605387 CATARACT, POSTERIOR POLAR 3; 605388 CEREBRAL PALSY, ATAXIC, AUTOSOMAL RECESSIVE; 605389 HYPOTRICHOSIS SIMPLEX; 605393 JUMONJI, AT-RICH INTERACTIVE DOMAIN 1B; JARID1B; 605419 SCHIZOPHRENIA 10; SCZD10; 605428 DEAFNESS, AUTOSOMAL RECESSIVE 26; DFNB26; 605429 DEAFNESS, NONSYNDROMIC, MODIFIER 1; DFNM1; 605469 JUMONJI DOMAIN CONTAINING 2C; JMJD2C; 605479 CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, AUTOSOMAL DOMINANT; 605480 SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 3; 605544 FIBROMATOSIS, GINGIVAL, 2; GINGF2; 605549 CONE-ROD DYSTROPHY 8; CORD8; 605582 CARDIOMYOPATHY, DILATED, 1K; CMD1K; 605583 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 25; DFNA25; 605598 DIABETES MELLITUS, INSULIN-DEPENDENT, 18; IDDM18; 605606 PSORIASIS SUSCEPTIBILITY 7; 605617 SPLIT-HAND/FOOT MALFORMATION WITH SENSORINEURAL HEARING LOSS; 605635 HYPERALDOSTERONISM, FAMILIAL, TYPE II; 605642 THYROID CARCINOMA, PAPILLARY, WITH PAPILLARY RENAL NEOPLASIA; 605670 RETINAL DEGENERATION, LATE-ONSET, AUTOSOMAL DOMINANT; 605726 NEUROPATHY, DISTAL HEREDITARY MOTOR, JERASH TYPE; 605727 OTOSCLEROSIS 2; OTSC2; 605728 CATARACT, CENTRAL SACCULAR, WITH SUTURAL OPACITIES; 605738 NANOPHTHALMOS 2; NNO2; 605746 ANISOMASTIA; 605749 CATARACT, AUTOSOMAL RECESSIVE, EARLY-ONSET, PULVERULENT; 605750 EXUDATIVE VITREORETINOPATHY, FAMILIAL, 3; 605751 BENIGN FAMILIAL INFANTILE CONVULSIONS 2; 605803 DERMATITIS, ATOPIC, 2; ATOD2; 605804 DERMATITIS, ATOPIC, 3; ATOD3; 605805 DERMATITIS, ATOPIC, 4; ATOD4; 605809 MYASTHENIA GRAVIS, FAMILIAL INFANTILE, 1; 605818 DEAFNESS, AUTOSOMAL RECESSIVE 27; DFNB27; 605833 BONE MINERAL DENSITY VARIATION 2; 605841 NARCOLEPSY, HLA-ASSOCIATED; 605844 DERMATITIS, ATOPIC, 5; ATOD5; 605845 DERMATITIS, ATOPIC, 6; ATOD6; 605934 HOLOPROSENCEPHALY 6; 605946 METAPHYSEAL DYSPLASIA, BRAUN-TINSCHERT TYPE; 605982 FAMILIAL WILMS TUMOR 2; 606012 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 18; DFNA18; 606037 CD96 ANTIGEN; CD96; 606196 IROQUOIS HOMEOBOX PROTEIN 6; IRX6; 606197 IROQUOIS HOMEOBOX PROTEIN 1; IRX1; 606198 IROQUOIS HOMEOBOX PROTEIN 2; IRX2; 606199 IROQUOIS HOMEOBOX PROTEIN 4; IRX4; 606322 CYTOPLASMIC FMRP INTERACTING PROTEIN 1; CYFIP1; 606323 CYTOPLASMIC FMRP-INTERACTING PROTEIN 2; CYFIP2; 606356 PRO-ONCOSIS RECEPTOR INDUCING MEMBRANE INJURY; 606460 LONGEVITY 1; 606613 HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS; 606689 GLAUCOMA 1, OPEN ANGLE, B; GLC1B; 606708 SPLIT-HAND/FOOT MALFORMATION 5; 606771 CIRCULATING ADIPONECTIN QUANTITATIVE TRAIT LOCUS ON CHROMOSOME 14; 606854 POLYMICROGYRIA, BILATERAL FRONTOPARIETAL; 606856 PANCREATIC CANCER, SUSCEPTIBILITY TO, 1; 607053 HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS; 607087 AORTIC ANEURISM, FAMILIAL THORACIC 2; 607107 NASOPHARYNGEAL CARCINOMA 1; 607135 CREATININE CLEARANCE QUANTITATIVE TRAIT LOCUS; 607139 FANCA GENE; FANCA; 607152 SPASTIC PARAPLEGIA 19, AUTOSOMAL DOMINANT; SPG19; 607277 ASTHMA SUSCEPTIBILITY LOCUS 1; 607426 COENZYME Q10 DEFICIENCY; 607458 SENSORIMOTOR NEUROPATHY WITH ATAXIA, AUTOSOMAL DOMINANT; 607498 MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 3; 607499 BULIMIA NERVOSA, SUSCEPTIBILITY TO; 607584 SPASTIC PARAPLEGIA 24, AUTOSOMAL RECESSIVE; SPG24; 607674 CATARACT, CONGENITAL, WITH MENTAL IMPAIRMENT AND DENTATE GYRUS ATROPHY; 607812 CRANIOLENTICULOSUTURAL DYSPLASIA; 607968 PARATHYROID HORMONE-RESPONSIVE B1 GENE; 608027 CEREBELLAR ATROPHY WITH PROGRESSIVE MICROCEPHALY; 608035 MELANOMA, CUTANEOUS MALIGNANT, 4; 608096 EPILEPSY, FAMILIAL TEMPORAL LOBE; 608207 KALA-AZAR, SUSCEPTIBILITY TO; KAZA

March 18, 2004
New Entries:: 608538 AT-RICH INTERACTION DOMAIN-CONTAINING PROTEIN 5B; ARID5B
Changed Entries:: 100600 ACANTHOSIS NIGRICANS; 101800 ACRODYSOSTOSIS; 101850 ACROKERATOELASTOIDOSIS; AKE; 102350 ACROMIAL DIMPLES; 102800 ADENOSINE TRIPHOSPHATASE DEFICIENCY, ANEMIA DUE TO; 103420 ALACRIMA, CONGENITAL; 103800 ALDER ANOMALY; 104130 ALOPECIA, PSYCHOMOTOR EPILEPSY, PYORRHEA, AND MENTAL SUBNORMALITY; 104510 AMELOGENESIS IMPERFECTA, HYPOMATURATION-HYPOPLASIC TYPE, WITH TAURODONTISM;; 105250 AMYLOIDOSIS, PRIMARY CUTANEOUS; 105800 ANEURYSM, INTRACRANIAL BERRY; 106210 ANIRIDIA, TYPE II; AN2; 107290 ANTIPYRINE METABOLISM; 107600 APLASIA CUTIS CONGENITA; 107950 ARRHENOBLASTOMA--THYROID ADENOMA; 108390 ASPARAGUS, SPECIFIC SMELL HYPERSENSITIVITY; 108650 ATAXIA, SPASTIC, WITH CONGENITAL MIOSIS; 108760 ATRESIA OF EXTERNAL AUDITORY CANAL AND CONDUCTION DEAFNESS; 108800 ATRIAL SEPTAL DEFECT 1; ASD1; 108900 ATRIAL SEPTAL DEFECT WITH ATRIOVENTRICULAR CONDUCTION DEFECTS; 108985 ATROPHIA AREATA; AA; 109000 AURICULOOSTEODYSPLASIA; 109160 AZOTEMIA, FAMILIAL; 109543 B-CELL MALIGNANCY, LOW-GRADE; 109660 BETA-AMINO ACIDS, RENAL TRANSPORT OF; AABT; 110350 BLOOD GROUP--AHONEN; AN; 111130 BLOOD GROUP--LKE; LKE; 111150 BLOOD GROUP--LUTHERAN INHIBITOR; 111250 LANDSTEINER-WIENER BLOOD GROUP; LW; 111750 BLOOD GROUP--SCIANNA SYSTEM; Sc; 111800 BLOOD GROUP--STOLTZFUS SYSTEM; Sf; 112000 BLOOD GROUP--Ul SYSTEM; UL; 112250 DIAPHYSEAL MEDULLARY STENOSIS WITH MALIGNANT FIBROUS HISTIOCYTOMA; 112600 BRACHYDACTYLY, TYPE A2; BDA2; 112700 BRACHYDACTYLY, TYPE A3; BDA3; 112800 BRACHYDACTYLY, TYPE A4; BDA4; 112900 BRACHYDACTYLY, TYPE A5, WITH NAIL DYSPLASIA; 113705 BREAST CANCER 1 GENE; BRCA1; 113750 HAIR COLOR 1; HCL1; 113950 BUNDLE BRANCH BLOCK, FAMILIAL ISOLATED COMPLETE RIGHT; 114140 CALLOSITIES, HEREDITARY PAINFUL; 114150 CAMPTOBRACHYDACTYLY; 114580 CANDIDIASIS, FAMILIAL CHRONIC MUCOCUTANEOUS, AUTOSOMAL DOMINANT; 114600 CANINE TEETH, ABSENCE OF UPPER PERMANENT; 115650 CATARACT, ANTERIOR POLAR, 1; CTAA1; 115660 CATARACT, CONGENITAL, CERULEAN TYPE, 1; CCA1; 115665 CATARACT, CONGENITAL, VOLKMANN TYPE; CCV; 115800 CATARACT, CRYSTALLINE CORALLIFORM; 115900 CATARACT, FLORIFORM; 116300 CATARACT, NUCLEAR DIFFUSE NONPROGRESSIVE; 116400 CATARACT, NUCLEAR TOTAL; 116600 CATARACT, POSTERIOR POLAR 1; 116950 CELL CYCLE CONTROLLER G1; 117100 CENTRALOPATHIC EPILEPSY; 117800 EAR WAX, WET/DRY; 118830 CHYLOMICRONEMIA, FAMILIAL, DUE TO CIRCULATING INHIBITOR OF LIPOPROTEIN; 118840 CHROMATE RESISTANCE; CHR; 119000 CLEFT CHIN; 119100 CLEFT HAND AND ABSENT TIBIA; 119540 CLEFT PALATE, ISOLATED; CPI; 119900 CLUBBING OF DIGITS; 120050 COXSACKIE B3 VIRUS SUSCEPTIBILITY; CXB3S; 120300 COLOBOMA OF MACULA; 120450 COMEDONES, FAMILIAL DYSKERATOTIC; 120970 CONE-ROD DYSTROPHY 2; CORD2; 121011 GAP JUNCTION PROTEIN, BETA-2; GJB2; 121390 CORNEA GUTTATA WITH ANTERIOR POLAR CATARACTS; 121400 CORNEA PLANA 1; CNA1; 121700 CORNEAL ENDOTHELIAL DYSTROPHY 1; CHED1; 121850 CORNEAL FLECK DYSTROPHY; 122400 CORNEAL EROSIONS, RECURRING HEREDITARY; 122450 CORNEAL HYPESTHESIA, FAMILIAL; 122460 CORONAVIRUS 229E SUSCEPTIBILITY; CVS; 122750 COXA VARA; 123570 CRYPTOPHTHALMOS, UNILATERAL OR BILATERAL, ISOLATED; 124480 DEAFNESS AND ONYCHODYSTROPHY, DOMINANT FORM; 124700 DEAFNESS, MID-TONE NEURAL; 124800 DEAFNESS, PROGRESSIVE HIGH-TONE NEURAL; 125260 DEFECTIVE INTERFERING PARTICLE INDUCTION, CONTROL OF; 125400 DENTIN DYSPLASIA, TYPE I; 125440 DENTIN DYSPLASIA WITH SCLEROTIC BONES; 125540 DERMAL RIDGES, PATTERNLESS; 125595 DERMATOPATHIA PIGMENTOSA RETICULARIS; DPR; 125852 DIABETES MELLITUS, INSULIN-DEPENDENT, 2; 125853 DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM; 126050 DIGITOTALAR DYSMORPHISM; 126070 DILUTION, PIGMENTARY; 126255 DISTAL-LESS HOMEOBOX 2; DLX2; 126300 DISTICHIASIS; 126550 DOUGHNUT LESIONS OF SKULL, FAMILIAL; 126850 DUODENAL ULCER, HYPERPEPSINOGENEMIC I; 127500 DYSCHROMATOSIS UNIVERSALIS HEREDITARIA; 127600 DYSKERATOSIS, HEREDITARY BENIGN INTRAEPITHELIAL; 128000 DYSTELEPHALANGY; 128101 DYSTONIA MUSCULORUM DEFORMANS 4; DYT4; 128200 PAROXYSMAL KINESIGENIC CHOREOATHETOSIS; PKC; 128600 EAR MALFORMATION; 128700 PREAURICULAR FISTULAE, CONGENITAL; 128980 EARLOBES, THICKENED, WITH CONDUCTIVE DEAFNESS FROM INCUDOSTAPEDIAL; 129150 ECHO VIRUS 11 SENSITIVITY; E11S; 129600 ECTOPIA LENTIS, ISOLATED; 130180 ELECTROENCEPHALOGRAM, LOW-VOLTAGE; 131310 ENGRAILED 2; EN2; 131400 EOSINOPHILIA, FAMILIAL; 131500 EPICANTHUS; 132800 MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA; MSSE; 133000 ERYTHEMA PALMARE HEREDITARIUM; 133190 ERYTHROKERATODERMIA WITH ATAXIA; 133500 EXCHONDROSIS OF PINNA, POSTERIOR; 134200 FACIAL PALSY, FAMILIAL RECURRENT PERIPHERAL; 135100 FIBRODYSPLASIA OSSIFICANS PROGRESSIVA; FOP; 136000 FINGERPRINTS, ABSENCE OF; 137100 IMMUNOGLOBULIN A DEFICIENCY SUSCEPTIBILITY 1; IGAD1; 137500 GIANT NEUTROPHIL LEUKOCYTES; 138249 GLUTAMATE RECEPTOR, IONOTROPIC, N-METHYL-D-ASPARTATE, SUBUNIT 1; GRIN1; 138800 GOITER, MULTINODULAR 1; MNG1; 139100 GRAYING OF HAIR, PRECOCIOUS; 139600 HAIRY ELBOWS; 140350 HAWKINSINURIA; 142335 HEREDITARY PERSISTENCE OF FETAL HEMOGLOBIN, HETEROCELLULAR, INDIAN; 142400 HERNIA, HIATUS; 142450 HERPESVIRUS SENSITIVITY; HV1S; 142669 HIP DYSPLASIA, BEUKES TYPE; 142950 HOMEOBOX A7; HOXA7; 142951 HOMEOBOX A6; HOXA6; 142952 HOMEOBOX A5; HOXA5; 142953 HOMEOBOX A4; HOXA4; 142954 HOMEOBOX A3; HOXA3; 142955 HOMEOBOX A1; HOXA1; 142956 HOMEOBOX A9; HOXA9; 142957 HOMEOBOX A10; HOXA10; 142958 HOMEOBOX A11; HOXA11; 142959 HOMEOBOX A13; HOXA13; 142960 HOMEOBOX B5; HOXB5; 142961 HOMEOBOX B6; HOXB6; 142962 HOMEOBOX B7; HOXB7; 142963 HOMEOBOX B8; HOXB8; 142964 HOMEOBOX B9; HOXB9; 142965 HOMEOBOX B4; HOXB4; 142966 HOMEOBOX B3; HOXB3; 142967 HOMEOBOX B2; HOXB2; 142968 HOMEOBOX B1; HOXB1; 142970 HOMEOBOX C8; HOXC8; 142971 HOMEOBOX C9; HOXC9; 142972 HOMEOBOX C6; HOXC6; 142973 HOMEOBOX 3D; HOX3D; 142974 HOMEOBOX C4; HOXC4; 142975 HOMEOBOX 3F; HOX3F; 142976 HOMEOBOX C13; HOXC13; 142980 HOMEOBOX D3; HOXD3; 142981 HOMEOBOX D4; HOXD4; 142982 HOMEOBOX D9; HOXD9; 142983 MUSCLE SEGMENT HOMEOBOX, DROSOPHILA, HOMOLOG OF, 1; MSX1; 142984 HOMEOBOX D10; HOXD10; 142985 HOMEOBOX D8; HOXD8; 142986 HOMEOBOX D11; HOXD11; 142987 HOMEOBOX D1; HOXD1; 142988 HOMEOBOX D12; HOXD12; 142989 HOMEOBOX D13; HOXD13; 142991 EVEN-SKIPPED HOMEOBOX 2; EVX2; 142992 HOMEOBOX (H6 FAMILY) 1; HMX1; 142993 CEH10 HOMEODOMAIN-CONTAINING HOMOLOG; CHX10; 142994 HOMEOBOX GENE HB9; HLXB9; 142995 HOMEOBOX GENE HB24; 142996 EVEN-SKIPPED HOMEOBOX 1; EVX1; 143400 MULTICYSTIC RENAL DYSPLASIA, BILATERAL; MRD; 144250 HYPERLIPIDEMIA, FAMILIAL COMBINED; FCHL; 145100 HYPERPIGMENTATION OF EYELIDS; 145250 HYPERPIGMENTATION, FAMILIAL PROGRESSIVE; 145400 HYPERTELORISM; 145680 HYPERTHYROXINEMIA, FAMILIAL; 145700 HYPERTRICHOSIS UNIVERSALIS; 145750 HYPERTRIGLYCERIDEMIA, FAMILIAL; 145800 HYPERTROPHIA MUSCULORUM VERA; 145981 HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE II; HHC2; 146550 HYPOTRICHOSIS, MARIE UNNA TYPE; 147141 TRANSCRIPTION FACTOR 3; TCF3; 147420 INCLUSION BODY MYOPATHY; 147421 INCLUSION BODY MYOSITIS; 148200 KERATITIS FUGAX HEREDITARIA; 148210 KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL DOMINANT; 148370 KERATOLYTIC WINTER ERYTHEMA; 148500 TYLOSIS WITH ESOPHAGEAL CANCER; TOC; 148600 KERATOSIS PALMOPLANTARIS PAPULOSA; 148730 KERATOSIS, FOCAL PALMOPLANTAR AND GINGIVAL; 149300 KOILONYCHIA, HEREDITARY; 150270 LARYNGEAL ADDUCTOR PARALYSIS; LAP; 151200 LERI PLEONOSTEOSIS; 151600 LEUKONYCHIA TOTALIS; 151630 LIP, MEDIAN NODULE OF UPPER; 151900 LIPOMATOSIS, MULTIPLE; 152100 LIPOPROTEIN TYPES--Ld SYSTEM; 152460 LOBULAR GLOMERULOPATHY, FAMILIAL; 152800 LYMPHANGIECTASIA, INTESTINAL; 153630 MACROGLOSSIA; 153840 MACULAR DYSTROPHY, ATYPICAL VITELLIFORM; VMD1; 153880 MACULAR EDEMA, CYSTOID; 154275 MALIGNANT HYPERTHERMIA SUSCEPTIBILITY 2; MHS2; 154276 MALIGNANT HYPERTHERMIA SUSCEPTIBILITY 3; 154570 MANNOSE 6-PHOSPHATE RECEPTOR RECOGNITION DEFECT, LEBANESE TYPE; 155000 MAXILLOFACIAL DYSOSTOSIS; 155350 MEGALENCEPHALY; 155800 MELANOSIS, UNIVERSAL; 155980 MEMBRANOUS CRANIAL OSSIFICATION, DELAYED; 156230 MESOMELIC DWARFISM OF HYPOPLASTIC TIBIA AND RADIUS TYPE; 156232 MESOMELIC DYSPLASIA, KANTAPUTRA TYPE; 156240 MESOTHELIOMA, MALIGNANT; 156520 METATARSUS VARUS, TYPE I; 156580 MICROCEPHALY, AUTOSOMAL DOMINANT; 156600 MICROCORIA, CONGENITAL; 157170 HOLOPROSENCEPHALY 2; HPE2; 157200 MIDPHALANGEAL HAIR; 157400 MILIA, MULTIPLE ERUPTIVE; 157950 MOLAR I REINCLUSION; 158050 MONKEY RED BLOOD CELL RECEPTOR; MRBC; 158310 MUCOEPITHELIAL DYSPLASIA, HEREDITARY; 158400 MUSCLE CRAMPS, FAMILIAL; 158500 MUSCULAR ATROPHY, ATAXIA, RETINITIS PIGMENTOSA, AND DIABETES MELLITUS; 158580 MOTOR NEURONOPATHY, DISTAL HEREDITARY, WITH VOCAL CORD PARALYSIS; 158590 MUSCULAR ATROPHY, ADULT SPINAL; 158900 FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1A; FSHMD1A; 158901 FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1B; FSHMD1B; 159050 MUSCULAR DYSTROPHY, PSEUDOHYPERTROPHIC, WITH INTERNALIZED CAPILLARIES; 159600 MYOCLONIC EPILEPSY, HARTUNG TYPE; 160010 MYOGLOBINURIA, AUTOSOMAL DOMINANT; 160300 MYOPATHY, DISTAL, WITH ONSET IN INFANCY; 160565 MYOPATHY, TUBULAR AGGREGATE; 160700 MYOPIA 2; MYP2; 160900 DYSTROPHIA MYOTONICA 1; 161500 NASAL GROOVE, FAMILIAL TRANSVERSE; 162100 NEURITIS WITH BRACHIAL PREDILECTION; NAPB; 162370 NEUROPATHY, CONGENITAL, WITH ARTHROGRYPOSIS MULTIPLEX; 162700 NEUTROPENIA, CHRONIC FAMILIAL; 162820 NEUTROPHIL CHEMOTACTIC RESPONSE; NCR; 162900 NEVI; 163000 NEVI FLAMMEI, FAMILIAL MULTIPLE; 163100 NEVUS FLAMMEUS OF NAPE OF NECK; 163700 NIPPLES, SUPERNUMERARY; 164150 NYSTAGMUS, HEREDITARY VERTICAL; 164170 NYSTAGMUS, VOLUNTARY; 165000 OPHTHALMOPLEGIA, FAMILIAL STATIC; 165800 OSTEOCHONDRITIS DISSECANS; OD; 166300 OSTEOLYSIS, HEREDITARY, OF CARPAL BONES WITH NEPHROPATHY; 166800 OTOSCLEROSIS; OTSC1; 167400 PAIN, SUBMANDIBULAR, OCULAR AND RECTAL, WITH FLUSHING; 167416 PAIRED BOX GENE 9; PAX9; 167420 PAIRED MESODERM HOMEOBOX 1; PMX1; 167500 PALATOPHARYNGEAL INCOMPETENCE; 168860 PATELLA APLASIA-HYPOPLASIA; PTLAH; 168900 PATELLA, CHONDROMALACIA OF; 169000 PATELLA, FAMILIAL RECURRENT DISLOCATION OF; 169545 PELVIC LIPOMATOSIS WITH CROSSED RENAL ECTOPIA; 170650 PERIODONTITIS, JUVENILE; JPD; 172150 6-@PHOSPHOGLUCONOLACTONASE DEFICIENCY; 172900 PIGMENTED PURPURIC ERUPTION; 173110 POU DOMAIN, CLASS 1, TRANSCRIPTION FACTOR 1; POU1F1; 173200 PITYRIASIS RUBRA PILARIS; 173540 PLATELET GROUPS--Pl(E) SYSTEM; 173600 PNEUMOTHORAX, SPONTANEOUS; 174600 POLYDACTYLY, PREAXIAL III; 174750 POLYKARYOCYTOSIS INDUCER; FUSE; 175020 POLYPOSIS, GASTRIC; 175780 PORENCEPHALY, FAMILIAL; 175800 POROKERATOSIS OF MIBELLI; 175860 POROKERATOSIS PUNCTATA PALMARIS ET PLANTARIS; PPPP; 175900 POROKERATOSIS, DISSEMINATED SUPERFICIAL ACTINIC, 1; 176010 PORPHYRIA, CHESTER TYPE; PORC; 176310 PRE-B-CELL LEUKEMIA TRANSCRIPTION FACTOR 1; PBX1; 176311 PRE-B-CELL LEUKEMIA TRANSCRIPTION FACTOR 2; PBX2; 176400 PRECOCIOUS PUBERTY; 176430 PREMATURE CENTROMERE DIVISION; PCD; 176450 CURRARINO SYNDROME; 176680 PRIMED LYMPHOCYTE TEST 1; PLT1; 176700 PROGNATHISM, MANDIBULAR; 176770 PROLINE-NEGATIVE AUXOTROPH OF HAMSTER, COMPLEMENTATION OF; PROA; 176950 PROTHROMBIN CONVERSION DEFECT, FAMILIAL; 177050 PROTRUSIO ACETABULI; 177750 PSEUDOMONILETHRIX; 178200 PTERYGIUM, ANTECUBITAL; 178300 PTOSIS, HEREDITARY CONGENITAL 1; PTOS1; 178350 PUBIC BONE DYSPLASIA; 179200 RADIAL HEADS, POSTERIOR DISLOCATION OF; 179650 RED CELL PERMEABILITY DEFECT; 179900 RETINAL APLASIA; 180020 RETINAL CONE DEGENERATION; 180050 RETINAL DETACHMENT; 180240 RETINOIC ACID RECEPTOR, ALPHA; RARA; 180295 RHABDOMYOSARCOMA, EMBRYONAL, 2; RMSE2; 180500 RIEGER SYNDROME, TYPE 1; RIEG1; 180600 RINGED HAIR; 180950 SALIVARY SUBSTANCE, CLOSTRIDIUM BOTULINUM TYPE; 181460 SCHISTOSOMA MANSONI INFECTION, SUSCEPTIBILITY/RESISTANCE TO; 181800 SCOLIOSIS, IDIOPATHIC; 182810 SPECTRIN, ALPHA, NONERYTHROCYTIC 1; SPTAN1; 182920 SPHEROID BODY MYOPATHY; 182950 SPINAL ARACHNOIDITIS; 182970 SPINAL MUSCULAR ATROPHY, FACIOSCAPULOHUMERAL TYPE; 183000 SPINOCEREBELLAR ATAXIA AND PLAQUE-LIKE DEPOSITS; 183050 SPINOCEREBELLAR ATAXIA WITH RIGIDITY AND PERIPHERAL NEUROPATHY; 183600 SPLIT-HAND/FOOT MALFORMATION 1; SHFM1; 184100 SPONDYLOEPIPHYSEAL DYSPLASIA TARDA; 184252 SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE; 184255 SPONDYLOMETAPHYSEAL DYSPLASIA, CORNER FRACTURE TYPE; 184400 SPRENGEL DEFORMITY; 185010 STOMATOCYTOSIS II; 185200 STRIAE DISTENSAE, FAMILIAL; 185570 SURFACE ANTIGEN 17; SA17; 185700 SYMPHALANGISM, DISTAL; 185900 SYNDACTYLY, TYPE I; 186300 SYNDACTYLY, TYPE V; 186770 T-CELL LEUKEMIA, HOMEOBOX 1; TLX1; 186850 TARSAL FUSION; 186890 TEAR PROTEIN, ANODAL; 187260 TELANGIECTASIA, HEREDITARY BENIGN; 187280 TEMPERATURE SENSITIVITY COMPLEMENTATION, CELL CYCLE SPECIFIC, tsBN51;; 187290 TEMPERATURE SENSITIVITY COMPLEMENTATION, CELL CYCLE SPECIFIC, H142;; 187310 TEMPERATURE SENSITIVITY COMPLEMENTATION, CELL CYCLE SPECIFIC, K12; 187320 TEMPERATURE SENSITIVITY COMPLEMENTATION, CELL CYCLE SPECIFIC, ts13;; 187330 TEMPERATURE SENSITIVITY COMPLEMENTATION, CELL CYCLE SPECIFIC, ts546;; 187370 TENDO CALCANEUS, SHORT; 187500 TETRALOGY OF FALLOT; 187650 THEOPHYLLINE BIOTRANSFORMATION; 187900 THROMBASTHENIA-THROMBOCYTOPENIA, HEREDITARY; 188770 TIBIA, HYPOPLASIA OF, WITH POLYDACTYLY; 188800 TIBIAL TORSION, BILATERAL MEDIAL; 189700 TORUS PALATINUS AND TORUS MANDIBULARIS; 189800 PREECLAMPSIA/ECLAMPSIA 1; PEE1; 190100 GENIOSPASM 1; GSM1; 190220 TRANSFORMING GROWTH FACTOR, BETA-2; TGFB2; 190300 TREMOR, HEREDITARY ESSENTIAL, 1; ETM1; 190310 TREMOR, NYSTAGMUS, AND DUODENAL ULCER; 190600 TRIPHALANGEAL THUMB, NONOPPOSABLE; 190605 TRIPHALANGEAL THUMB-POLYSYNDACTYLY SYNDROME; 190680 TRIPHALANGEAL THUMBS WITH BRACHYECTRODACTYLY; 191020 TROPHOBLAST-LYMPHOCYTE CROSSREACTIVE ANTIGEN; 191181 SUPPRESSOR OF TUMORIGENICITY 3; ST3; 191200 TUNE DEAFNESS; 191500 UNDRITZ ANOMALY; 191523 UPSTREAM STIMULATORY FACTOR 1; USF1; 191530 URATE-BINDING GLOBULIN, DECREASE IN; 191830 UROGENITAL ADYSPLASIA, HEREDITARY; 192070 UV DAMAGE, EXCISION REPAIR OF, UV-24; 192315 VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHY; 192900 VERTEBRAL HYPOPLASIA WITH LUMBAR KYPHOSIS; 193000 VESICOURETERAL REFLUX; VUR; 193220 VITREORETINOCHOROIDOPATHY; VRCP; 193235 VITREORETINOPATHY, NEOVASCULAR INFLAMMATORY; VRNI; 193250 VOLVULUS OF MIDGUT; 194071 MULTIPLE TUMOR-ASSOCIATED CHROMOSOME REGION 1; MTACR1; 194090 WILMS TUMOR 3; WT3; 194300 WOOLLY HAIR, AUTOSOMAL DOMINANT; 200400 ACHALASIA, FAMILIAL ESOPHAGEAL; 200600 ACHONDROGENESIS, TYPE IA; ACG1A; 202650 DYSGNATHIA COMPLEX; 203300 HERMANSKY-PUDLAK SYNDROME; HPS; 203330 PSEUDOHYPOPARATHYROIDISM, TYPE II; 204000 LEBER CONGENITAL AMAUROSIS, TYPE I; LCA1; 204700 AMELOGENESIS IMPERFECTA, PIGMENTED HYPOMATURATION TYPE; 204800 AMOBARBITAL, DEFICIENT N-HYDROXYLATION OF; 205200 AMYOTROPHIC LATERAL SCLEROSIS, JUVENILE, WITH DEMENTIA; 206500 ANENCEPHALY; 206570 ANGIOMATOSIS, DIFFUSE CORTICOMENINGEAL, OF DIVRY AND VAN BOGAERT; 206800 ANONYCHIA; 208060 ARTERIOSCLEROSIS, SEVERE JUVENILE; 208100 ARTHROGRYPOSIS MULTIPLEX CONGENITA, NEUROGENIC TYPE; AMCN; 210370 BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY; 210730 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE III; 211410 BREAST CANCER, DUCTAL, 1; BRCD1; 211900 CALCINOSIS, TUMORAL, WITH HYPERPHOSPHATEMIA; 212050 CANDIDIASIS, FAMILIAL CHRONIC MUCOCUTANEOUS, AUTOSOMAL RECESSIVE; 212130 CARDIOMYOPATHY ASSOCIATED WITH MYOPATHY AND SUDDEN DEATH; 212160 CARNITINE DEFICIENCY, MYOPATHIC; 212200 CARNOSINEMIA; 212400 CATARACT AND CONGENITAL ICHTHYOSIS; 212780 CENANI SYNDACTYLISM; 212895 CEREBELLAR ATAXIA, EARLY-ONSET, WITH RETAINED TENDON REFLEXES; EOCA; 213000 CEREBELLAR HYPOPLASIA; 215400 CHORDOMA; CHDM; 215500 CHOROIDAL DYSTROPHY, CENTRAL AREOLAR; CACD; 215520 CILIARY DYSKINESIA DUE TO TRANSPOSITION OF CILIARY MICROTUBULES; 216700 COLLAGENOSIS, FAMILIAL REACTIVE PERFORATING; 217500 CORNEAL DYSTROPHY, BAND-SHAPED; 217700 CORNEAL ENDOTHELIAL DYSTROPHY 2; CHED2; 218100 CRANIAL NERVES, CONGENITAL PARESIS OF; 218400 CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE; CMDR; 220120 D-GLYCERICACIDEMIA; 221300 DEAFNESS, CONDUCTIVE, WITH MALFORMED EXTERNAL EAR; 221350 DEAFNESS, CONGENITAL, WITH VITILIGO AND ACHALASIA; 221650 DEAFNESS, NEURAL, PROGRESSIVE CHILDHOOD TYPE; 222690 DIBASICAMINOACIDURIA I; 224100 ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE II; CDAN2; 224300 DYSOSTEOSCLEROSIS; 224500 DYSTONIA MUSCULORUM DEFORMANS 2; DYT2; 225200 ECTOPIA LENTIS WITH ECTOPIA OF PUPIL; 225500 ELLIS-VAN CREVELD SYNDROME; EVC; 225790 ENCEPHALOCLASTIC PROLIFERATIVE VASCULOPATHY; EPV; 226300 ENTEROPATHY, PROTEIN-LOSING; 226450 EPIDERMOLYSIS BULLOSA INVERSA DYSTROPHICA; 226500 EPIDERMOLYSIS BULLOSA DYSTROPHICA NEUROTROPHICA; 227050 TRANSIENT ERYTHROBLASTOPENIA OF CHILDHOOD; 227090 ERYTHRODERMA, LETHAL CONGENITAL; 227150 ETHANOLAMINOSIS; 227220 EYE COLOR 3; EYCL3; 227240 EYE COLOR 1; EYCL1; 227645 FANCONI ANEMIA, COMPLEMENTATION GROUP C; FANCC; 228250 FEMUR, UNILATERAL BIFID, WITH MONODACTYLOUS ECTRODACTYLY; 228520 FIBROCHONDROGENESIS; 229050 FOLIC ACID, TRANSPORT DEFECT INVOLVING; 229400 FRONTOFACIONASAL DYSOSTOSIS; 229500 FRUCTOSE AND GALACTOSE INTOLERANCE; 230700 GANGLIOSIDOSIS, GM2, TYPE III, OR JUVENILE TYPE; 231070 GERODERMA OSTEODYSPLASTICA; GO; 231530 GLUCAGON DEFICIENCY, HYPOGLYCEMIA DUE TO; 232220 GLYCOGEN STORAGE DISEASE Ib; 233420 GONADAL DYSGENESIS, XY TYPE; 235830 HISTIDINURIA DUE TO A RENAL TUBULAR DEFECT; 235900 HISTIOCYTOSIS, FAMILIAL LIPOCHROME; 236795 3-@HYDROXYISOBUTYRICACIDURIA; 236800 HYDROXYKYNURENINURIA; 236900 HYDROXYLYSINURIA; 237450 HYPERBILIRUBINEMIA, ROTOR TYPE; 237800 HYPERBILIRUBINEMIA, SHUNT; 238320 HYPERGONADOTROPIC HYPOGONADISM; HHG; 239300 HYPERPHOSPHATASIA WITH MENTAL RETARDATION; 241310 HYPOMANDIBULAR FACIOCRANIAL DYSOSTOSIS; 241400 HYPOPARATHYROIDISM; 241530 HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, HEREDITARY; HHRH; 242500 ICHTHYOSIS CONGENITA, HARLEQUIN FETUS TYPE; 242600 IMINOGLYCINURIA; 243000 INDIFFERENCE TO PAIN; 245400 LACTIC ACIDOSIS, CONGENITAL INFANTILE; 246000 LEG, ABSENCE DEFORMITY OF, WITH CONGENITAL CATARACT; 247800 LYMPHOPENIC HYPERGAMMAGLOBULINEMIA, ANTIBODY DEFICIENCY, AUTOIMMUNE; 249650 MERCAPTOLACTATE-CYSTEINE DISULFIDURIA; MCDU; 250600 METATROPIC DWARFISM; 250620 METHACRYLICACIDURIA; 251500 MICROPHTHALMIA AND MENTAL DEFICIENCY; 252600 MUCOLIPIDOSIS IIIA; 253240 MUCUS INSPISSATION OF RESPIRATORY TRACT; 253250 MULIBREY NANISM; 253900 MUSCULAR DYSTROPHY, CONGENITAL, PRODUCING ARTHROGRYPOSIS; 254150 MUSK, INABILITY TO SMELL; 255125 MYOPATHY WITH DEFICIENCY OF SUCCINATE DEHYDROGENASE AND ACONITASE; 255300 MYOPATHY, CONGENITAL; 256000 LEIGH SYNDROME; LS; 257150 NEUTROPHIL ACTIN DYSFUNCTION; NAD; 257270 NIGHT BLINDNESS WITH HIGH-GRADE MYOPIA; 257600 OCULAR MYOPATHY WITH CURARE SENSITIVITY; 258150 OLIGOSYNAPTIC INFERTILITY; 258300 OLIVOPONTOCEREBELLAR ATROPHY II; 258360 ONYCHOTRICHODYSPLASIA AND NEUTROPENIA; 258400 OPHTHALMOPLEGIA TOTALIS WITH PTOSIS AND MIOSIS; 258480 OPSISMODYSPLASIA; 258700 OPTICOCOCHLEODENTATE DEGENERATION; 259250 OSTEODYSPLASIA, FAMILIAL, ANDERSON TYPE; 260005 5-@OXOPROLINASE DEFICIENCY; 260800 PENTOSURIA; 264270 PSEUDOHERMAPHRODITISM, FEMALE, WITH SKELETAL ANOMALIES; 265100 PULMONARY ALVEOLAR MICROLITHIASIS; 265950 PYLORIC ATRESIA; 266100 EPILEPSY, PYRIDOXINE-DEPENDENT; EPD; 266250 RADICULONEUROPATHY, FATAL NEONATAL; 266300 HAIR COLOR 2; HCL2; 266350 RED SKIN PIGMENT ANOMALY OF NEW GUINEA; 268080 RETINOSCHISIS OF FOVEA; 268200 RHABDOMYOLYSIS, ACUTE RECURRENT; 268700 SACCHAROPINURIA; 269250 SCHNECKENBECKEN DYSPLASIA; 270300 SKIN PEELING, FAMILIAL CONTINUOUS; 270400 SMITH-LEMLI-OPITZ SYNDROME; SLOS; 270420 SODIUM DIARRHEA, CONGENITAL; 270600 SPASTIC DIPLEGIA, INFANTILE TYPE; 270800 SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE; SPG5A; 271250 SPINOCEREBELLAR ATAXIA WITH BLINDNESS AND DEAFNESS; 271400 SPLENIC HYPOPLASIA; 271550 SPONDYLOENCHONDRODYSPLASIA; 271600 SPONDYLOEPIPHYSEAL DYSPLASIA TARDA; 271630 SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, TOLEDO TYPE; 271930 STRIATONIGRAL DEGENERATION, INFANTILE; SNDI; 272370 SUSCEPTIBILITY TO LYSIS BY ALLOREACTIVE NATURAL KILLER CELLS; EC1; 272650 TATSUMI FACTOR DEFICIENCY; 273395 TETRA-AMELIA WITH PULMONARY HYPOPLASIA; 273900 THROMBOCYTOPENIA, AUTOSOMAL RECESSIVE; 274190 THUMB AGENESIS, SHORT STATURE, AND IMMUNODEFICIENCY; 274700 THYROID HORMONOGENESIS, GENETIC DEFECT IN, III; 274800 THYROID HORMONOGENESIS, GENETIC DEFECT IN, IV; 275250 TONGUE, PIGMENTED FUNGIFORM PAPILLAE OF; 275370 TRICARBOXYLIC ACID CYCLE, DEFECT OF; 276100 TRYPTOPHANURIA WITH DWARFISM; 276400 TWINNING, DIZYGOTIC; 277100 VALINEMIA; 277320 VISCERAL MYOPATHY, FAMILIAL, WITH EXTERNAL OPHTHALMOPLEGIA; 277350 VITAMIN A METABOLIC DEFECT; 277400 VITAMIN B12 METABOLIC DEFECT WITH METHYLMALONICACIDEMIA AND HOMOCYSTINURIA; 277410 VITAMIN B12 METABOLIC DEFECT, TYPE 2; 278740 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E; 300001 ICHTHYOSIS, X-LINKED, WITHOUT STEROID SULFATASE DEFICIENCY; 300021 SPINAL MUSCULAR ATROPHY, X-LINKED LETHAL INFANTILE; 300025 CAUDAL-TYPE HOMEOBOX TRANSCRIPTION FACTOR 4; CDX4; 300030 DEAFNESS, X-LINKED 4, CONGENITAL SENSORINEURAL; DFN4; 300046 MENTAL RETARDATION, X-LINKED 23; MRX23; 300047 MENTAL RETARDATION, X-LINKED 20; MRX20; 300048 INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CHRONIC IDIOPATHIC, X-LINKED; 300058 PEM HOMEOBOX GENE, HUMAN HOMOLOG OF; 300066 DEAFNESS, X-LINKED 6, PROGRESSIVE; DFN6; 300077 MENTAL RETARDATION, X-LINKED 29; MRX29; 300082 COGNITIVE FUNCTION 1, SOCIAL; CGF1; 300085 CONE-ROD DYSTROPHY, X-LINKED, 2; CORDX2; 300115 MENTAL RETARDATION, X-LINKED 50; MRX50; 300125 MIGRAINE, FAMILIAL TYPICAL, SUSCEPTIBILITY TO, 2; 300136 DIABETES MELLITUS, INSULIN-DEPENDENT, X-LINKED, SUSCEPTIBILITY TO; 300143 MENTAL RETARDATION, X-LINKED 21; MRX21; 300147 PROSTATE CANCER, HEREDITARY, X-LINKED; HPCX; 300148 MENTAL RETARDATION, EPILEPTIC SEIZURES, HYPOGONADISM AND HYPOGENITALISM,; 300154 EXTRAEMBRYONIC, SPERMATOGENESIS, HOMEOBOX 1, MOUSE, HOMOLOG OF; 300155 RETINITIS PIGMENTOSA 24; RP24; 300158 ARTHROGRYPOSIS, X-LINKED, TYPE V; AMCX5; 300179 X INACTIVATION, FAMILIAL SKEWED, 2; 300195 ALPORT SYNDROME, MENTAL RETARDATION, MIDFACE HYPOPLASIA, AND ELLIPTOCYTOSIS; 300211 EPISODIC MUSCLE WEAKNESS, X-LINKED; EMWX; 300215 LISSENCEPHALY, X-LINKED, WITH AMBIGUOUS GENITALIA; XLAG; 300220 CHORIOATHETOSIS WITH MENTAL RETARDATION AND ABNORMAL BEHAVIOR; 300228 TESTICULAR GERM CELL TUMOR 1; 300245 PTOSIS, HEREDITARY CONGENITAL 2; 300250 ADRENAL UNRESPONSIVENESS TO ACTH; 300266 SPASTIC PARAPLEGIA 16, X-LINKED, COMPLICATED; SPG16; 300268 ANGIONEUROTIC EDEMA, HEREDITARY, WITH NORMAL C1-INHIBITOR CONCENTRATION; 300271 MENTAL RETARDATION, X-LINKED 72; MRX72; 300273 GOITER, MULTINODULAR 2; MNG2; 300310 AGAMMAGLOBULINEMIA, X-LINKED, TYPE 2; AGMX2; 300324 MENTAL RETARDATION, X-LINKED 53; MRX53; 300345 MICROPHTHALMIA, COLOBOMATOUS; 300355 MENTAL RETARDATION, X-LINKED 73; MRX73; 300372 MENTAL RETARDATION, X-LINKED 42; MRX42; 300373 OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS; OSCS; 300423 MENTAL RETARDATION, X-LINKED, WITH EPILEPSY; 300424 RETINITIS PIGMENTOSA 23; RP23; 300428 MENTAL RETARDATION, X-LINKED 2; MRX2; 300433 MENTAL RETARDATION, X-LINKED 81; MRX81; 300446 OVARY-, TESTIS-, AND EPIDIDYMIS-EXPRESSED GENE; 300447 HOMEOBOX PROTEIN, PEPP SUBFAMILY, 2; 300454 MENTAL RETARDATION, X-LINKED 77; MRX77; 300476 CONE-ROD DYSTROPHY, X-LINKED, 3; CORDX3; 301201 AMELOGENESIS IMPERFECTA 3, HYPOPLASTIC TYPE; AIH3; 301590 ANOPHTHALMOS, CLINICAL; ANOP1; 302000 BULLOUS DYSTROPHY, HEREDITARY MACULAR TYPE; 302600 CEREBELLAR ATAXIA WITH EXTRAPYRAMIDAL INVOLVEMENT; 302950 CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE; CDPX1; 303900 COLORBLINDNESS, PARTIAL, PROTAN SERIES; CBP; 304500 DEAFNESS, X-LINKED 2, SENSORINEURAL CONGENITAL; DFN2; 304590 DEAFNESS, HIGH-FREQUENCY SENSORINEURAL, X-LINKED; 304730 DERMOIDS OF CORNEA; CND; 305200 EHLERS-DANLOS SYNDROME, TYPE V; 307150 HYPERTRICHOSIS, CONGENITAL GENERALIZED; HTC2; 307700 HYPOPARATHYROIDISM, X-LINKED; HYPX; 308250 IMMUNOGLOBULIN M, LEVEL OF; 309050 LUTHERAN SUPPRESSOR, X-LINKED; XS; 309100 MACULAR DYSTROPHY, X-LINKED; 309150 MALE PSEUDOHERMAPHRODITISM: DEFICIENCY OF TESTICULAR 17,20-DESMOLASE;; 309300 MEGALOCORNEA; MGC1; 309545 MENTAL RETARDATION, X-LINKED NONSPECIFIC, WITH APHASIA; MRXA; 309549 MENTAL RETARDATION, X-LINKED 9; MRX9; 309630 METACARPAL 4-5 FUSION; MF4; 310440 MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY; MEAX; 310700 NYSTAGMUS 1, CONGENITAL, X-LINKED; NYS1; 311050 OPTIC ATROPHY 2; OPA2; 312500 RETICULOENDOTHELIOSIS, X-LINKED; 312865 SHORT STATURE HOMEOBOX; SHOX; 313350 SPLIT-HAND/FOOT MALFORMATION 2; SHFM2; 313480 TaqI POLYMORPHISM; TAQ1; 314250 DYSTONIA 3, TORSION, X-LINKED; DYT3; 314380 UNIQUE GREEN PHENOMENON; 314700 XG BLOOD GROUP SYSTEM; XG; 314705 XG REGULATOR; XGR; 314900 XM SYSTEM; 314995 ZINC FINGER PROTEIN 41; ZNF41; 400004 RETINITIS PIGMENTOSA, Y-LINKED; 400020 SHORT STATURE HOMEOBOX, Y-LINKED; SHOXY; 424500 GONADOBLASTOMA; GBY; 516005 COMPLEX I, SUBUNIT ND5; MTND5; 600028 DISTAL-LESS HOMEOBOX 5; DLX5; 600029 DISTAL-LESS HOMEOBOX 1; DLX1; 600030 DISTAL-LESS HOMEOBOX 6; DLX6; 600034 EMPTY SPIRACLES, DROSOPHILA, HOMOLOG OF, 1; EMX1; 600035 EMPTY SPIRACLES, DROSOPHILA, 2, HOMOLOG OF; EMX2; 600037 ORTHODENTICLE, DROSOPHILA, HOMOLOG OF, 2; OTX2; 600048 BREAST CANCER, 11-22 TRANSLOCATION ASSOCIATED; 600075 TATA BOX-BINDING PROTEIN; TBP; 600131 EPILEPSY, CHILDHOOD ABSENCE, 1; ECA1; 600145 SACRAL DEFECT WITH ANTERIOR MENINGOCELE; SDAM; 600147 MESENCHYME HOMEOBOX 1; MEOX1; 600163 SODIUM CHANNEL, VOLTAGE-GATED, TYPE V, ALPHA SUBUNIT; SCN5A; 600165 NANOPHTHALMOS 1; NNO1; 600175 SPINAL MUSCULAR ATROPHY, CONGENITAL NONPROGRESSIVE, OF LOWER LIMBS; 600202 DYSLEXIA, SPECIFIC, 2; DYX2; 600209 EXOSTOSES, MULTIPLE, TYPE III; EXT3; 600214 ADVANCED GLYCOSYLATION END PRODUCT-SPECIFIC RECEPTOR; AGER; 600224 SPINOCEREBELLAR ATAXIA 5; SCA5; 600256 HYDROCEPHALUS, AUTOSOMAL DOMINANT; 600297 CAUDAL-TYPE HOMEOBOX TRANSCRIPTION FACTOR 2; CDX2; 600298 LIM HOMEOBOX TRANSCRIPTION FACTOR 1, ALPHA; LMX1A; 600318 DIABETES MELLITUS, INSULIN-DEPENDENT, 3; IDDM3; 600319 DIABETES MELLITUS, INSULIN-DEPENDENT, 4; IDDM4; 600320 DIABETES MELLITUS, INSULIN-DEPENDENT, 5; IDDM5; 600321 DIABETES MELLITUS, INSULIN-DEPENDENT, 7; IDDM7; 600335 SUCCINICACIDEMIA; 600360 APLASIA CUTIS CONGENITA OF LIMBS, RECESSIVE; 600384 APHALANGIA, PARTIAL, WITH SYNDACTYLY AND DUPLICATION OF METATARSAL; 600399 PECTUS EXCAVATUM, MACROCEPHALY, SHORT STATURE, DYSPLASTIC NAILS; 600467 MALIGNANT HYPERTHERMIA SUSCEPTIBILITY 4; MHS4; 600525 DISTAL-LESS HOMEOBOX 3; DLX3; 600535 MESENCHYME HOMEOBOX 2; MEOX2; 600577 LIM HOMEOBOX GENE 3; LHX3; 600584 NK2, DROSOPHILA, HOMOLOG OF, E; NKX2E; 600593 CRANIOSYNOSTOSIS, ADELAIDE TYPE; CRSA; 600624 CONE-ROD DYSTROPHY 1; CORD1; 600631 ENURESIS, NOCTURNAL, 1; ENUR1; 600635 THYROID TRANSCRIPTION FACTOR 1; TITF1; 600647 HOMEOBOX (H6 FAMILY) 2; HMX2; 600652 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 4; DFNA4; 600668 CHONDROCALCINOSIS 1; CCAL1; 600674 MICROTIA-ANOTIA; 600733 INSULIN PROMOTER FACTOR 1; IPF1; 600740 HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III; HHC3; 600746 CAUDAL-TYPE HOMEOBOX TRANSCRIPTION FACTOR 1; CDX1; 600757 OROFACIAL CLEFT 3; OFC3; 600771 DWARFISM, FAMILIAL, WITH MUSCLE SPASMS; 600785 VITAMIN D-DEPENDENT RICKETS, RECEPTOR-POSITIVE TYPE; 600790 CHORIORETINAL ATROPHY, PROGRESSIVE BIFOCAL; 600792 DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE 5; DFNB5; 600795 DEMENTIA, FAMILIAL NONSPECIFIC; 600808 ENURESIS, NOCTURNAL, 2; ENUR2; 600852 RETINITIS PIGMENTOSA 17; RP17; 600883 DIABETES MELLITUS, INSULIN-DEPENDENT, 8; IDDM8; 600963 SINE OCULIS HOMEOBOX, DROSOPHILA, HOMOLOG OF, 5; SIX5; 600975 GLAUCOMA 3, PRIMARY INFANTILE, B; GLC3B; 600977 CONE-ROD DYSTROPHY 5; CORD5; 600990 LAGOPHTHALMIA WITH BILATERAL CLEFT LIP AND PALATE; 600994 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 5; DFNA5; 601021 NUCLEOPORIN, 98-KD; NUP98; 601042 CHOREOATHETOSIS/SPASTICITY, EPISODIC; CSE; 601068 EPILEPSY, MYOCLONIC, BENIGN ADULT FAMILIAL, TYPE 1; 601086 LATERALITY DEFECTS, AUTOSOMAL DOMINANT; 601135 GASTRULATION BRAIN HOMEOBOX 2; GBX2; 601144 BRUGADA SYNDROME; 601154 CARDIOMYOPATHY, DILATED, 1E; CMD1E; 601162 SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT; SPG9; 601202 CATARACT, ANTERIOR POLAR, 2; CTAA2; 601205 SINE OCULIS HOMEOBOX, DROSOPHILA, HOMOLOG OF, 1; SIX1; 601208 DIABETES MELLITUS, INSULIN-DEPENDENT, 11; IDDM11; 601251 RETINAL CONE DYSTROPHY 2; 601278 FSHD GENE 1; FRG1; 601286 CATARACT, NONNUCLEAR POLYMORPHIC CONGENITAL, AUTOSOMAL DOMINANT; 601317 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 11; DFNA11; 601318 DIABETES MELLITUS, INSULIN-DEPENDENT, 13; IDDM13; 601363 WILMS TUMOR 4; 601407 DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2; NIDDM2; 601412 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 7; DFNA7; 601454 PSORIASIS SUSCEPTIBILITY 3; PSORS3; 601493 CARDIOMYOPATHY, DILATED, 1C; CMD1C; 601527 CARTILAGE HOMEOPROTEIN 1; CART1; 601537 MICROCEPHALY, RETINITIS PIGMENTOSA, AND SUTURAL CATARACT; 601538 PROPHET OF PIT1, PAIRED-LIKE HOMEODOMAIN TRANSCRIPTION FACTOR; PROP1; 601542 PAIRED-LIKE HOMEODOMAIN TRANSCRIPTION FACTOR 2; PITX2; 601546 PROSPERO-RELATED HOMEOBOX 1; PROX1; 601549 ALACRIMA; 601550 BLOOD GROUP SYSTEM SWANN; 601551 BLOOD GROUP SYSTEM FROESE; 601552 ECTOPIA LENTIS, SPONTANEOUS FILTERING BLEBS, AND CRANIOFACIAL DYSMORPHISM; 601606 TRICHOEPITHELIOMA, MULTIPLE FAMILIAL; 601612 LUNG AGENESIS; 601616 IRIS PIGMENT EPITHELIUM ANOMALIES; 601650 PARAGANGLIOMAS, FAMILIAL NONCHROMAFFIN, 2; PGL2; 601666 DIABETES MELLITUS, INSULIN-DEPENDENT, 15; IDDM15; 601676 ACUTE INSULIN RESPONSE; 601682 GLAUCOMA 1, OPEN ANGLE, C; GLC1C; 601694 LEPTIN, SERUM LEVELS OF; 601700 SEBACEOUS GLAND HYPERPLASIA, FAMILIAL PRESENILE; 601739 MEIS1, MOUSE, HOMOLOG OF, 1; MEIS1; 601740 MEIS1, MOUSE, HOMOLOG OF, 2; MEIS2; 601744 SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 1; SLEB1; 601764 BENIGN FAMILIAL INFANTILE CONVULSIONS; 601800 HAIR COLOR 3; HCL3; 601802 HOMEOBOX GENE EXPRESSED IN ES CELLS; HESX1; 601804 TRANSCRIPTION FACTOR Sp3; SP3; 601845 GOOSECOID-LIKE; GSCL; 601846 VACUOLAR NEUROMYOPATHY; 601881 RETINA AND ANTERIOR NEURAL FOLD GENE; RAX; 601894 GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS; 601911 DISTAL-LESS HOMEOBOX 4; DLX4; 601941 DIABETES MELLITUS, INSULIN-DEPENDENT, 6; IDDM6; 601942 DIABETES MELLITUS, INSULIN-DEPENDENT, 10; IDDM10; 601992 FRIEDREICH ATAXIA 2; 601999 LIM HOMEOBOX GENE 1; LHX1; 602025 OBESITY QUANTITATIVE TRAIT LOCUS ON CHROMOSOME 20; 602041 HOMEOBOX 3A, NK; NKX3A; 602067 CARDIOMYOPATHY, DILATED, 1F; CMD1F; 602071 BROAD TERMINAL PHALANGES, FAMILIAL; 602085 POLYDACTYLY, POSTAXIAL, TYPE A2; 602086 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 3; ARVD3; 602087 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 4; ARVD4; 602089 HEMANGIOMA, CAPILLARY INFANTILE; 602099 AMYOTROPHIC LATERAL SCLEROSIS 5; ALS5; 602100 PBX/KNOTTED 1 HOMEOBOX 1; PKNOX1; 602111 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, TYPE II; 602134 TREMOR, HEREDITARY ESSENTIAL, 2; ETM2; 602146 LIM HOMEOBOX GENE 4; 602149 PAIRED-LIKE HOMEODOMAIN TRANSCRIPTION FACTOR 1; PITX1; 602183 BAGPIPE HOMEOBOX, DROSOPHILA, HOMOLOG OF, 1; BAPX1; 602199 MEDIUM CHAIN 3-KETOACYL-CoA THIOLASE DEFICIENCY; 602200 VENTRICULOMEGALY WITH DEFECTS OF THE RADIUS AND KIDNEY; 602225 CONE-ROD HOMEOBOX-CONTAINING GENE; CRX; 602247 XANTHOMATOSIS, SUSCEPTIBILITY TO; 602429 GLAUCOMA 1, OPEN ANGLE, D; GLC1D; 602433 AMYOTROPHIC LATERAL SCLEROSIS 4, JUVENILE; ALS4; 602440 AMYOTROPHY, MONOMELIC; 602476 FEBRILE CONVULSIONS, FAMILIAL, 1; FEB1; 602477 FEBRILE CONVULSIONS, FAMILIAL, 2; FEB2; 602482 AXENFELD-RIEGER ANOMALY WITH CARDIAC DEFECTS AND SENSORINEURAL HEARING; 602491 HYPERLIPIDEMIA, COMBINED, 1; 602504 SHORT STATURE HOMEOBOX 2; SHOX2; 602563 HOMEOBOX 6A, NK; NKX6A; 602575 LIM HOMEOBOX TRANSCRIPTION FACTOR 1, BETA; LMX1B; 602594 RETINITIS PIGMENTOSA 22; RP22; 602639 HYPODONTIA, AUTOSOMAL RECESSIVE; HYD2; 602669 PAIRED-LIKE HOMEODOMAIN TRANSCRIPTION FACTOR 3; PITX3; 602685 MENTAL RETARDATION, SEVERE, WITH SPASTICITY AND PIGMENTARY TAPETORETINAL; 602753 ARISTALESS HOMEOBOX, DROSOPHILA, HOMOLOG OF; ARIX; 602772 RETINITIS PIGMENTOSA 25; RP25; 602911 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, GAMMA-2 SUBUNIT; CACNG2; 602966 OROFACIAL CLEFT 2; OFC2; 603010 DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE 17; DFNB17; 603013 SCHIZOPHRENIA 6; SCZD6; 603037 LEFT-RIGHT DETERMINATION, FACTOR B; LEFTB; 603040 TUMOR SUPPRESSOR GENE ON CHROMOSOME 11; 603045 LOSS OF HETEROZYGOSITY, 18, CHROMOSOMAL REGION 1; LOH18CR1; 603047 ASTIGMATISM; 603075 MACULAR DEGENERATION, AGE-RELATED, 1; ARMD1; 603096 ACHROMATOPSIA 1; 603098 DEAFNESS, AUTOSOMAL RECESSIVE 13; DFNB13; 603129 LIM DOMAIN ONLY 4; LMO4; 603176 SCHIZOPHRENIA 7; SCZD7; 603178 METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE; MMSDH; 603188 OBESITY, SUSCEPTIBILITY TO, ON CHROMOSOME 10p; OB10P; 603204 EPILEPSY, NOCTURNAL FRONTAL LOBE, TYPE 2; 603221 MYOPIA 3; MYP3; 603245 NK2, DROSOPHILA, HOMOLOG OF, H; NKX2H; 603260 BarH-LIKE HOMEOBOX GENE 1; 603266 DIABETES MELLITUS, INSULIN-DEPENDENT, 17; IDDM17; 603285 CEREBRAL CAVERNOUS MALFORMATIONS 3; CCM3; 603354 GASTRULATION BRAIN HOMEOBOX 1; GBX1; 603422 PDZ AND LIM DOMAIN PROTEIN 4; PDLIM4; 603511 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1D; LGMD1D; 603513 SPASTIC CEREBRAL PALSY, SYMMETRIC, AUTOSOMAL RECESSIVE; 603546 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH MULTIPLE DISLOCATIONS; 603552 HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 1; 603563 SPASTIC PARAPLEGIA 8, AUTOSOMAL DOMINANT; SPG8; 603649 CONE-ROD DYSTROPHY 7; CORD7; 603663 MENTAL HEALTH WELLNESS 1; 603678 DEAFNESS, AUTOSOMAL RECESSIVE 14; DFNB14; 603687 ALDEHYDE DEHYDROGENASE 1 FAMILY, MEMBER A2; ALDH1A2; 603688 PROSTATE CANCER/BRAIN CANCER SUSCEPTIBILITY; 603689 MYOPATHY, PROXIMAL, WITH EARLY RESPIRATORY MUSCLE INVOLVEMENT; 603694 DIABETES MELLITUS, NONINSULIN-DEPENDENT, 3; 603714 SINE OCULIS HOMEOBOX, DROSOPHILA, HOMOLOG OF, 3; SIX3; 603759 LIM HOMEOBOX GENE 2; LHX2; 603830 LONG QT SYNDROME 3; LQT3; 603851 PAIRED-LIKE HOMEOBOX 2B; PHOX2B; 603855 CYSTIC FIBROSIS MODIFIER 1; CFM1; 603918 HYPERTENSION, ESSENTIAL, SUSCEPTIBILITY TO, 1; 603964 DEAFNESS, AUTOSOMAL DOMINANT 16; DFNA16; 603965 FOCAL SEGMENTAL GLOMERULOSCLEROSIS 2; FSGS2; 604060 DEAFNESS, AUTOSOMAL RECESSIVE 20; DFNB20; 604169 NONCOMPACTION OF LEFT VENTRICULAR MYOCARDIUM, FAMILIAL ISOLATED, AUTOSOMAL; 604173 NAVAJO POIKILODERMA; 604201 HEPATIC FIBROSIS, SEVERE, SUSCEPTIBILITY TO, DUE TO SCHISTOSOMA MANSONI; 604232 LEBER CONGENITAL AMAUROSIS, TYPE III; 604240 T-CELL LEUKEMIA, HOMEOBOX 2; TLX2; 604255 LADY BIRD LATE, DROSOPHILA, HOMOLOG OF, 1; 604271 SHORT STATURE; SS; 604288 CARDIOMYOPATHY, DILATED, 1H; CMD1H; 604294 VENTRAL ANTERIOR HOMEOBOX 1; VAX1; 604295 VENTRAL ANTERIOR HOMEOBOX 2; VAX2; 604316 PSORIASIS SUSCEPTIBILITY 5; PSORS5; 604317 MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 2; MCPH2; 604321 MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 4; MCPH4; 604329 HYPERTENSION, ESSENTIAL, SUSCEPTIBILITY TO, 2; 604356 DUANE RETRACTION SYNDROME 2; 604360 SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE; SPG11; 604364 EPILEPSY, PARTIAL, WITH VARIABLE FOCI; 604400 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5; ARVD5; 604401 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 6; 604403 FEBRILE CONVULSIONS, FAMILIAL, 3; FEB3; 604420 HEMATOPOIETICALLY EXPRESSED HOMEOBOX; HHEX; 604425 LIM HOMEOBOX GENE 8; 604431 POLYNEUROPATHY, LETHAL NEONATAL, AXONAL SENSORIMOTOR, AUTOSOMAL RECESSIVE; 604432 SPINOCEREBELLAR ATAXIA 11; SCA11; 604442 NONPAPILLARY RENAL CARCINOMA 1; 604454 WELANDER DISTAL MYOPATHY; WDM; 604557 OLF1/EBF-ASSOCIATED ZINC FINGER PROTEIN; 604607 HOMEOBOX B13; HOXB13; 604612 NK2, DROSOPHILA, HOMOLOG OF, B; NKX2B; 604625 OLIGODONTIA; 604640 T-CELL LEUKEMIA HOMEOBOX 3; TLX3; 604675 PAIRED-RELATED HOMEOBOX GENE 2; PRRX2; 604685 HOMEOBOX A2; HOXA2; 604757 CRANIOSYNOSTOSIS, TYPE 2; CRS2; 604823 BarH-LIKE HOMEOBOX GENE 2; BARX2; 604991 PROSTATE ANDROGEN-REGULATED TRANSCRIPT 1; 604994 SINE OCULIS HOMEOBOX, DROSOPHILA, HOMOLOG OF, 2; SIX2; 605020 VISUAL SYSTEM HOMEOBOX GENE 1, ZEBRAFISH, HOMOLOG OF; VSX1; 605201 HIGH DENSITY LIPOPROTEIN DEFICIENCY 3; 605559 HOMEOBOX C11; HOXC11; 605560 HOMEOBOX C10; HOXC10; 605735 PROSTAGLANDIN-ENDOPEROXIDE SYNTHASE DEFICIENCY; 605802 ZINC FINGER HOMEOBOX 1B; ZFHX1B; 605871 R BINDER DEFICIENCY WITH LACTOFERRIN DEFICIENCY; 605889 PDZ AND LIM DOMAIN PROTEIN 3; PDLIM3; 605955 HOMEOBOX 6B, NK; 605992 LIM HOMEOBOX PROTEIN 5; LHX5; 606009 DOUBLE HOMEOBOX PROTEIN 4; DUX4; 606014 ARISTALESS-LIKE HOMEOBOX 3; ALX3; 606035 FASTING GLUCOSE AND SPECIFIC INSULIN LEVELS; 606049 ACROMEGALOID FEATURES, OVERGROWTH, CLEFT PALATE, AND HERNIA; 606052 BENIGN FAMILIAL INFANTILE CONVULSIONS 3; 606053 PHRASE SPEECH DELAY, AUTISM-RELATED; 606066 LIM HOMEOBOX GENE 9; LHX9; 606068 RETINITIS PIGMENTOSA 28; RP28; 606070 MYOPATHY, DISTAL 2; MPD2; 606082 GOITER, MULTINODULAR 3; MNG3; 606129 DIAMOND-BLACKFAN ANEMIA 2; 606163 CARDIOMYOPATHY, FATAL FETAL, DUE TO MYOCARDIAL CALCIFICATION; 606164 DIAMOND-BLACKFAN ANEMIA WITH MICROTIA AND CLEFT PALATE; 606195 IROQUOIS HOMEOBOX PROTEIN 5; IRX5; 606196 IROQUOIS HOMEOBOX PROTEIN 6; IRX6; 606197 IROQUOIS HOMEOBOX PROTEIN 1; IRX1; 606198 IROQUOIS HOMEOBOX PROTEIN 2; IRX2; 606199 IROQUOIS HOMEOBOX PROTEIN 4; IRX4; 606215 ATRIOVENTRICULAR SEPTAL DEFECT, SUSCEPTIBILITY TO, 1; AVSD1; 606240 THYROID CARCINOMA, NONMEDULLARY 1; 606255 STATURE QUANTITATIVE TRAIT LOCUS ON CHROMOSOME 6; 606256 STATURE QUANTITATIVE TRAIT LOCUS ON CHROMOSOME 7; 606257 STATURE QUANTITATIVE TRAIT LOCUS ON CHROMOSOME 12; 606258 STATURE QUANTITATIVE TRAIT LOCUS ON CHROMOSOME 13; 606282 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 24; DFNA24; 606325 HETEROTAXY, VISCERAL, 3; 606326 SINE OCULIS HOMEOBOX, DROSOPHILA, HOMOLOG OF, 6; SIX6; 606342 SINE OCULIS HOMEOBOX, DROSOPHILA, HOMOLOG OF, 4; SIX4; 606364 SPINOCEREBELLAR ATAXIA 16; SCA16; 606451 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 30; DFNA30; 606545 ICHTHYOSIS, LAMELLAR, 5; 606552 EPISODIC ATAXIA, TYPE 3; 606554 EPISODIC ATAXIA, TYPE 4; 606579 SYSTEMIC LUPUS ERYTHEMATOSUS, VITILIGO-RELATED; 606596 FUKUTIN-RELATED PROTEIN; 606599 THIOREDOXIN-INTERACTING PROTEIN; TXNIP; 606612 MUSCULAR DYSTROPHY, CONGENITAL, 1C; MDC1C; 606616 DYSLEXIA SUSCEPTIBILITY 6; DYX6; 606640 AMYOTROPHIC LATERAL SCLEROSIS 3; ALS3; 606642 BODY MASS INDEX QUANTITATIVE TRAIT LOCUS ON CHROMOSOME 7; 606643 BODY MASS INDEX QUANTITATIVE TRAIT LOCUS ON CHROMOSOME 13; 606658 SPINOCEREBELLAR ATAXIA 15; SCA15; 606660 MELANOMA, UVEAL, SUSCEPTIBILITY TO, 1; 606661 MELANOMA, UVEAL, SUSCEPTIBILITY TO, 2; 606703 DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA; 606711 SPECIFIC LANGUAGE IMPAIRMENT QUANTITATIVE TRAIT LOCUS ON CHROMOSOME; 606712 SPECIFIC LANGUAGE IMPAIRMENT QUANTITATIVE TRAIT LOCUS ON CHROMOSOME; 606763 CILIARY DYSKINESIA, PRIMARY, 2; CILD2; 606766 AZOOSPERMIA, NONOBSTRUCTIVE; 606770 CIRCULATING ADIPONECTIN QUANTITATIVE TRAIT LOCUS ON CHROMOSOME 5; 606788 ANOREXIA NERVOSA, SUSCEPTIBILITY TO; 606789 FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS ON CHROMOSOME 8; 606842 CARDIONEUROMYOPATHY WITH HYALINE MASSES AND NEMALINE RODS; 606858 PREMATURE CHROMOSOME CONDENSATION WITH MICROCEPHALY AND MENTAL RETARDATION; 606896 DYSLEXIA, SPECIFIC, 5; DYX5; 606928 BONE MINERAL DENSITY VARIATION 3; 606937 CEREBELLAR ATAXIA WITH MENTAL RETARDATION, OPTIC ATROPHY, AND SKIN; 606960 INSULINOMA TUMOR SUPPRESSOR GENE LOCUS; 606970 EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, LOCUS ON CHROMOSOME; 606972 EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, LOCUS ON CHROMOSOME; 606984 HYPERRENINEMIC HYPOALDOSTERONISM, FAMILIAL, 2; 607004 BRACHYDACTYLY, TYPE A1, B; 607017 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 21; DFNA21; 607034 FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A; 607085 MYASTHENIA GRAVIS WITH THYMUS HYPERPLASIA; 607086 AORTIC ANEURISM, FAMILIAL THORACIC 1; 607088 SPINAL MUSCULAR ATROPHY, CHRONIC DISTAL, AUTOSOMAL RECESSIVE; 607095 ANAUXETIC DYSPLASIA; 607108 PAIRED BOX GENE 6; PAX6; 607131 MACROCEPHALY WITH MULTIPLE EPIPHYSEAL DYSPLASIA AND DISTINCTIVE FACIES; 607134 SPECIFIC LANGUAGE IMPAIRMENT QUANTITATIVE TRAIT LOCUS ON CHROMOSOME; 607158 VENT-LIKE HOMEOBOX 2; VENTX2; 607164 LADY BIRD-LIKE HOMEOBOX 2; LBX2; 607195 DYSTONIA 14; DYT14; 607202 GLUTEN-SENSITIVE ENTEROPATHY, SUSCEPTIBILITY TO; 607221 EPILEPSY, PARTIAL, WITH PERICENTRAL SPIKES; 607239 DEAFNESS, AUTOSOMAL RECESSIVE 33; DFNB33; 607248 GLIOMA, FAMILIAL, 1; 607258 HYPERCALCIURIA, ABSORPTIVE, 1; 607279 SYSTEMIC LUPUS ERYTHEMATOSUS WITH HEMOLYTIC ANEMIA, SUSCEPTIBILITY; 607304 CATARACT, NUCLEAR PROGRESSIVE; 607308 MAMMOGRAPHIC DENSITY; 607317 SPINOCEREBELLAR ATAXIA WITH SACCADIC INTRUSIONS; SCASI; 607324 POLYDACTYLY, POSTAXIAL, TYPE A3; 607329 HYPERTENSION, ESSENTIAL, SUSCEPTIBILITY TO, 3; 607346 SPINOCEREBELLAR ATAXIA 19; SCA19; 607354 SCOLIOSIS, IDIOPATHIC 2; 607373 AUTISM, SUSCEPTIBILITY TO, 3; 607398 GLUCOCORTICOID DEFICIENCY 2; 607411 PATENT DUCTUS ARTERIOSUS; 607417 MENTAL RETARDATION, NONSYNDROMIC, AUTOSOMAL RECESSIVE, 2A; MRT2A; 607446 BODY MASS INDEX QUANTITATIVE TRAIT LOCUS ON CHROMOSOME 6; 607447 BODY MASS INDEX QUANTITATIVE TRAIT LOCUS ON CHROMOSOME 11; 607453 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 44; 607454 SPINOCEREBELLAR ATAXIA 21; SCA21; 607464 THYROID CARCINOMA, HURTHLE CELL; 607473 VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 2; 607488 DYSTONIA 15, MYOCLONIC; DYT15; 607501 MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO, 4; 607530 HOMEOBOX A11, ANTISENSE; 607539 CAMPTOSYNPOLYDACTYLY, COMPLEX; 607592 PROSTATE CANCER AGGRESSIVENESS QUANTITATIVE TRAIT LOCUS ON CHROMOSOME; 607644 CANDIDIASIS, FAMILIAL CHRONIC NAIL, WITH ICAM1 DEFICIENCY; CANDN1; 607671 DYSTONIA 13, TORSION; DYT13; 607683 DEAFNESS, AUTOSOMAL DOMINANT 52; DFNA52; 607687 HIGH DENSITY LIPOPROTEIN CHOLESTEROL, LOW SERUM, 3; 607728 POROKERATOSIS, DISSEMINATED SUPERFICIAL ACTINIC, 2; 607759 INTEGRIN, ALPHA-2B; ITGA2B; 607786 PROPROTEIN CONVERTASE, SUBTILISIN/KEXIN-TYPE, 9; PCSK9; 607829 MITRAL VALVE PROLAPSE, MYXOMATOUS 2; MMVP2; 607842 AURAL ATRESIA, CONGENITAL; 607857 PSORIASIS SUSCEPTIBILITY 9; 607876 EPILEPSY, MYOCLONIC, BENIGN ADULT FAMILIAL, TYPE 2; 607893 OVARIAN CANCER, EPITHELIAL, SUSCEPTIBILITY TO; 607932 ANOPHTHALMIA WITH POLYDACTYLY; 607937 HOMEOBOX TRANSCRIPTION FACTOR NANOG; 607949 MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO INFECTION BY, 1; 607965 SYSTEMIC LUPUS ERYTHEMATOSUS WITH NEPHRITIS, SUSCEPTIBILITY TO, 1;; 607966 SYSTEMIC LUPUS ERYTHEMATOSUS WITH NEPHRITIS, SUSCEPTIBILITY TO, 2;; 607967 SYSTEMIC LUPUS ERYTHEMATOSUS WITH NEPHRITIS, SUSCEPTIBILITY TO, 3;; 608022 VERTEBRAL OSSIFICATION, DEFECT IN, WITH NEPHROGENIC RESTS; 608026 HYPERTENSIVE NEPHROPATHY; 608030 AMYOTROPHIC LATERAL SCLEROSIS 6; 608031 AMYOTROPHIC LATERAL SCLEROSIS 7; 608036 DIABETES MELLITUS, NONINSULIN-DEPENDENT, 4; 608049 AUTISM, SUSCEPTIBILITY TO, 4; 608078 SCHIZOPHRENIA 11; 608088 NEUROPATHY, HEREDITARY SENSORY, TYPE I, WITH COUGH AND GASTROESOPHAGEAL; 608098 HETEROTOPIA, PERIVENTRICULAR, ASSOCIATED WITH CHROMOSOME 5p ANOMALIES; 608148 SPECIAL AT-RICH SEQUENCE-BINDING PROTEIN 2; SATB2; 608154 LIPODYSTROPHY, GENERALIZED, WITH MENTAL RETARDATION, DEAFNESS, SHORT; 608158 CoQ-RESPONSIVE OXPHOS DEFICIENCY; 608215 LIM HOMEOBOX GENE 6; LHX6; 608217 EPILEPSY, BENIGN NEONATAL, 3; EBN3; 608219 DEAFNESS, CONGENITAL NEUROSENSORY, AUTOSOMAL RECESSIVE 38; 608224 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 41; DFNA41; 608244 OTOSCLEROSIS 3; OTSC3; 608251 PHOBIA, SPECIFIC; 608264 DEAFNESS, CONGENITAL NEUROSENSORY, AUTOSOMAL RECESSIVE 40; DFNB40; 608265 DEAFNESS, CONGENITAL NEUROSENSORY, AUTOSOMAL RECESSIVE 39; DFNB39; 608345 NYSTAGMUS 3, CONGENITAL, AUTOSOMAL DOMINANT; NYS3; 608346 MUSCULAR DYSTROPHY, CONGENITAL, ASSOCIATED WITH CALF HYPERTROPHY,; 608361 SPONDYLOEPIPHYSEAL DYSPLASIA, KIMBERLEY TYPE; 608367 MYOPIA 4; 608371 OROFACIAL CLEFT 4; 608372 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 49; DFNA49; 608393 MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 6; 608394 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 43; DFNA43; 608410 OBESITY, SUSCEPTIBILITY TO, ON CHROMOSOME 4; 608423 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1F; LGMD1F; 608437 SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 4; 608443 MENTAL RETARDATION, NONSYNDROMIC, AUTOSOMAL RECESSIVE, 3; 608446 MYOCARDIAL INFARCTION, EARLY-ONSET, SUSCEPTIBILITY TO; 608447 CAROTID INTIMAL MEDIAL THICKNESS; 608505 CREE ENCEPHALITIS

March 17, 2004
New Entries:: 608536 GTP-BINDING PROTEIN 3; GTPBP3
Changed Entries:: 100300 ABSENCE DEFECT OF LIMBS, SCALP, AND SKULL; 100650 ALDEHYDE DEHYDROGENASE 2 FAMILY; ALDH2; 100678 ACETYL-CoA ACETYLTRANSFERASE 2; ACAT2; 100740 ACETYLCHOLINESTERASE; ACHE; 100820 ACHOO SYNDROME; 102100 ACROMEGALOID CHANGES, CUTIS VERTICIS GYRATA, AND CORNEAL LEUKOMA; 102150 ACROMEGALOID FACIAL APPEARANCE SYNDROME; 102300 RESTLESS LEGS SYNDROME; 102500 ACROOSTEOLYSIS WITH OSTEOPOROSIS AND CHANGES IN SKULL AND MANDIBLE; 102510 ACROPECTOROVERTEBRAL DYSPLASIA, F-FORM OF; 102600 ADENINE PHOSPHORIBOSYLTRANSFERASE; APRT; 102610 ACTIN, ALPHA, SKELETAL MUSCLE 1; ACTA1; 102700 ADENOSINE DEAMINASE; ADA; 102770 ADENOSINE MONOPHOSPHATE DEAMINASE 1; AMPD1; 102772 ADENOSINE MONOPHOSPHATE DEAMINASE 3; AMPD3; 103000 ADENYLATE KINASE 1; AK1; 103600 ALBUMIN; ALB; 103850 ALDOLASE A, FRUCTOSE-BISPHOSPHATE; ALDOA; 103950 ALPHA-2-MACROGLOBULIN; A2M; 104150 ALPHA-FETOPROTEIN; AFP; 104170 ALPHA-GALACTOSIDASE B; GALB; 104200 ALPORT SYNDROME, AUTOSOMAL DOMINANT; 104530 AMELOGENESIS IMPERFECTA, HYPOPLASTIC TYPE; 104570 AMELOONYCHOHYPOHIDROTIC SYNDROME; 105550 AMYOTROPHIC LATERAL SCLEROSIS WITH FRONTOTEMPORAL DEMENTIA; 105600 ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE III; CDAN3; 106070 ANGIOMA, HEREDITARY NEUROCUTANEOUS; 106180 ANGIOTENSIN I-CONVERTING ENZYME; ACE; 106300 ANKYLOSING SPONDYLITIS; 106700 TOTAL ANOMALOUS PULMONARY VENOUS RETURN; 106995 ANONYCHIA-ONYCHODYSTROPHY WITH HYPOPLASIA OR ABSENCE OF DISTAL PHALANGES; 107271 CD59 ANTIGEN P18-20; CD59; 107300 ANTITHROMBIN III DEFICIENCY; 107400 PROTEASE INHIBITOR 1; PI; 107650 APNEA, OBSTRUCTIVE SLEEP; 107730 APOLIPOPROTEIN B; APOB; 107741 APOLIPOPROTEIN E; APOE; 107910 CYTOCHROME P450, FAMILY 19, SUBFAMILY A, POLYPEPTIDE 1; CYP19A1; 107970 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 1; ARVD1; 109200 ALOPECIA, ANDROGENETIC; 109270 SOLUTE CARRIER FAMILY 4 (ANION EXCHANGER), MEMBER 1; SLC4A1; 109350 GASTROESOPHAGEAL REFLUX; 110600 ADP-RIBOSYLTRANSFERASE 4; ART4; 110700 BLOOD GROUP--DUFFY SYSTEM; FY; 110900 BLOOD GROUP--KELL-CELLANO SYSTEM; KEL; 111200 BLOOD GROUP--LUTHERAN SYSTEM; LU; 111300 BLOOD GROUP--MN LOCUS; MN; 111700 RHESUS BLOOD GROUP, CcEe ANTIGENS; RHCE; 111730 N-ACETYLGALACTOSAMINYLTRANSFERASE II; 111740 BLOOD GROUP--Ss LOCUS; Ss; 112200 BLUE RUBBER BLEB NEVUS; 112261 BONE MORPHOGENETIC PROTEIN 2; BMP2; 112300 BOOK SYNDROME; 112410 HYPERTENSION WITH BRACHYDACTYLY; 113620 BRANCHIAL CLEFTS WITH CHARACTERISTIC FACIES, GROWTH RETARDATION, IMPERFORATE; 113705 BREAST CANCER 1 GENE; BRCA1; 113811 COLLAGEN, TYPE XVII, ALPHA-1; COL17A1; 114000 CAFFEY DISEASE; 114200 CAMPTODACTYLY; 114300 CAMPTODACTYLY, CLEFT PALATE, AND CLUBFOOT; 114835 CARBOXYLESTERASE 1; CES1; 115430 CARPAL TUNNEL SYNDROME; CTS1; 115450 CASEIN, ALPHA; CSN1; 115500 CATALASE; CAT; 116150 CATARACT-MICROCORNEA SYNDROME; 116790 CATECHOL-O-METHYLTRANSFERASE; COMT; 117141 CENTROMERIC PROTEIN C1; CENPC1; 117350 CEREBELLAR DEGENERATION WITH SLOW EYE MOVEMENTS; 117400 CEREBELLOPARENCHYMAL DISORDER I; CPD I; 118100 CERVICAL VERTEBRAL FUSION, AUTOSOMAL DOMINANT; 118511 CHOLINERGIC RECEPTOR, NEURONAL NICOTINIC, ALPHA POLYPEPTIDE 7; CHRNA7; 118650 CHONDRODYSPLASIA PUNCTATA, AUTOSOMAL DOMINANT; 118800 PAROXYSMAL NONKINESIGENIC DYSKINESIA; PNKD; 119550 CLEFT PALATE-LATERAL SYNECHIA SYNDROME; 119580 BLEPHAROCHEILODONTIC SYNDROME; 120140 COLLAGEN, TYPE II, ALPHA-1; COL2A1; 120435 COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 1; 120436 COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 2; 120502 BRANCHIOOTIC SYNDROME 2; 120570 COMPLEMENT COMPONENT 1, q SUBCOMPONENT, BETA POLYPEPTIDE; C1QB; 120580 COMPLEMENT COMPONENT 1, s SUBCOMPONENT; C1S; 120700 COMPLEMENT COMPONENT 3; C3; 120810 COMPLEMENT COMPONENT 4A; C4A; 120900 COMPLEMENT COMPONENT 5 DEFICIENCY; 120920 MEMBRANE COFACTOR PROTEIN; MCP; 120940 COMPLEMENT COMPONENT 9; C9; 120950 COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE I; 120960 COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE II; 121050 CONTRACTURAL ARACHNODACTYLY, CONGENITAL; 121300 COPROPORPHYRIA; 122500 CORTICOSTEROID-BINDING GLOBULIN; CBG; 122560 CORTICOTROPIN-RELEASING HORMONE; CRH; 122600 COSTOVERTEBRAL SEGMENTATION ANOMALIES; 122720 CYTOCHROME P450, SUBFAMILY IIA, POLYPEPTIDE 6; CYP2A6; 123100 CRANIOSYNOSTOSIS, TYPE 1; CRS1; 123550 CRYOGLOBULINEMIA, FAMILIAL MIXED; 123580 CRYSTALLIN, ALPHA-A; CRYAA; 123590 CRYSTALLIN, ALPHA-B; CRYAB; 123680 CRYSTALLIN, GAMMA-C; CRYGC; 123690 CRYSTALLIN, GAMMA-D; CRYGD; 123829 CYCLIN-DEPENDENT KINASE 4; CDK4; 124015 CYTOCHROME P450 REDUCTASE; POR; 124020 CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 19; CYP2C19; 124030 CYTOCHROME P450, SUBFAMILY IID; CYP2D; 124060 CYTOCHROME P450, SUBFAMILY I, POLYPEPTIDE 2; CYP1A2; 124080 CYTOCHROME P450, SUBFAMILY XIB, POLYPEPTIDE 2; CYP11B2; 124092 INTERLEUKIN 10; IL10; 125270 DELTA-AMINOLEVULINATE DEHYDRATASE; ALAD; 125480 MAJOR AFFECTIVE DISORDER 1; MAFD1; 125520 DEPRESSOR ANGULI ORIS MUSCLE, HYPOPLASIA OF; 125550 DERMAL RIDGES-OFF-THE-END; 125647 DESMOPLAKIN; DSP; 126060 DIHYDROFOLATE REDUCTASE; DHFR; 126337 DNA DAMAGE-INDUCIBLE TRANSCRIPT 3; DDIT3; 126453 DOPAMINE RECEPTOR D5; DRD5; 126800 DUANE RETRACTION SYNDROME 1; DURS1; 126900 DUPUYTREN CONTRACTURE; 127000 KENNY-CAFFEY SYNDROME, TYPE 2; 129200 ECTODERMAL DYSPLASIA, ABSENT DERMATOGLYPHIC PATTERN, CHANGES IN NAILS,; 129400 ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH CLEFT LIP AND CLEFT PALATE; 129900 ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME; 130080 EHLERS-DANLOS SYNDROME, TYPE VIII; 130500 ERYTHROCYTE MEMBRANE PROTEIN BAND 4.1; EPB41; 131100 MULTIPLE ENDOCRINE NEOPLASIA, TYPE I; MEN1; 131370 ENOLASE 3; ENO3; 132810 EPOXIDE HYDROLASE 1, MICROSOMAL; EPHX1; 133510 EXCISION-REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 3; ERCC3; 133530 EXCISION-REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 5; ERCC5; 133540 EXCISION-REPAIR CROSS-COMPLEMENTING RODENT REPAIR DEFICIENCY, COMPLEMENTATION; 134370 H FACTOR 1; HF1; 134570 FACTOR XIII, A1 SUBUNIT; F13A1; 134580 FACTOR XIII, B SUBUNIT; F13B; 134600 FANCONI RENOTUBULAR SYNDROME; 134610 FAMILIAL MEDITERRANEAN FEVER-LIKE SYNDROME WITH AMYLOIDOSIS, AUTOSOMAL; 134770 FERRITIN HEAVY CHAIN 1; FTH1; 134820 FIBRINOGEN, A ALPHA POLYPEPTIDE; FGA; 135500 ZIMMERMANN-LABAND SYNDROME; ZLS; 135550 FIBROMATOSIS, GINGIVAL, WITH PROGRESSIVE DEAFNESS; 136300 FLYNN-AIRD SYNDROME; 136500 FOCAL FACIAL DERMAL DYSPLASIA; 136510 FOLYLPOLYGLUTAMATE SYNTHETASE; FPGS; 136820 FUCOSIDASE, ALPHA-L, 2; FUCA2; 136836 FUCOSYLTRANSFERASE 6; FUT6; 137150 4-@AMINOBUTYRATE AMINOTRANSFERASE; ABAT; 137580 GILLES DE LA TOURETTE SYNDROME; GTS; 138040 GLUCOCORTICOID RECEPTOR; GCCR; 138250 1-@PYRROLINE-5-CARBOXYLATE SYNTHETASE; PYCS; 138300 GLUTATHIONE REDUCTASE; GSR; 138320 GLUTATHIONE PEROXIDASE; GPX1; 138760 HYDROXYACYL GLUTATHIONE HYDROLASE; HAGH; 139090 GRAY PLATELET SYNDROME; GPS; 139200 GROUP-SPECIFIC COMPONENT; GC; 139250 GROWTH HORMONE 1; GH1; 139340 GUANINE NUCLEOTIDE-BINDING PROTEIN, ALPHA-TRANSDUCING ACTIVITY POLYPEPTIDE; 140300 HASHIMOTO THYROIDITIS; 141250 HEME OXYGENASE 1; HMOX1; 141350 HEMIFACIAL HYPERPLASIA WITH STRABISMUS; HFH; 141800 HEMOGLOBIN--ALPHA LOCUS 1; HBA1; 141900 HEMOGLOBIN--BETA LOCUS; HBB; 142360 HEPARIN COFACTOR II; HCF2; 142640 HISTIDINE-RICH GLYCOPROTEIN; HRG; 142993 CEH10 HOMEODOMAIN-CONTAINING HOMOLOG; CHX10; 143000 HORNER SYNDROME, CONGENITAL; 143100 HUNTINGTON DISEASE; HD; 143200 HYALOIDEORETINAL DEGENERATION OF WAGNER; 143850 ORTHOSTATIC HYPOTENSIVE DISORDER, STREETEN TYPE; 144150 HYPERKERATOSIS LENTICULARIS PERSTANS; HLP; 145410 HYPERTELORISM WITH ESOPHAGEAL ABNORMALITY AND HYPOSPADIAS; 145701 HYPERTRICHOSIS UNIVERSALIS CONGENITA, AMBRAS TYPE; HTC1; 147060 HYPER-IgE SYNDROME; 147200 IMMUNOGLOBULIN KAPPA CONSTANT REGION; IGKC; 147370 INSULIN-LIKE GROWTH FACTOR I RECEPTOR; IGF1R; 147470 INSULIN-LIKE GROWTH FACTOR II; IGF2; 147520 INOSINE TRIPHOSPHATASE; ITPA; 147670 INSULIN RECEPTOR; INSR; 147750 IVIC SYNDROME; 147770 JOHNSON NEUROECTODERMAL SYNDROME; 147800 AASE-SMITH SYNDROME; 147891 ISCHIOPATELLAR DYSPLASIA; 147892 DEIODINASE, IODOTHYRONINE, TYPE I; DIO1; 147900 JOINT LAXITY, FAMILIAL; 148050 KBG SYNDROME; 148900 KLIPPEL-FEIL SYNDROME; 149200 KNUCKLE PADS, LEUKONYCHIA, AND SENSORINEURAL DEAFNESS; 149730 LACRIMOAURICULODENTODIGITAL SYNDROME; LADD; 150000 LACTATE DEHYDROGENASE-A; LDHA; 150100 LACTATE DEHYDROGENASE-B; LDHB; 150240 LAMININ, BETA-1; LAMB1; 150260 LARYNGEAL ABDUCTOR PARALYSIS; 150400 LATERAL INCISORS, ABSENCE OF; 151430 B-CELL CLL/LYMPHOMA 2; BCL2; 151460 PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, C; PTPRC; 151670 LIPASE, HEPATIC; LIPC; 152200 APOLIPOPROTEIN(a); LPA; 152427 POTASSIUM CHANNEL, VOLTAGE-GATED, SUBFAMILY H, MEMBER 2; KCNH2; 152780 LUTEINIZING HORMONE, BETA POLYPEPTIDE; LHB; 152790 LUTEINIZING HORMONE/CHORIOGONADOTROPIN RECEPTOR; LHCGR; 152950 LYMPHEDEMA, MICROCEPHALY, CHORIORETINOPATHY SYNDROME; 154045 LENS INTRINSIC MEMBRANE PROTEIN 2, 19-KD; LIM2; 154050 MAJOR INTRINSIC PROTEIN OF LENS FIBER; MIP; 154230 SEX REVERSAL, AUTOSOMAL, 2; SRA2; 154705 MARFAN-LIKE CONNECTIVE TISSUE DISORDER; 155050 MAXILLONASAL DYSPLASIA, BINDER TYPE; 155310 MEGADUODENUM AND/OR MEGACYSTIS; 155900 MELKERSSON-ROSENTHAL SYNDROME; 156610 MICHELIN TIRE BABY SYNDROME; 157140 MICROTUBULE-ASSOCIATED PROTEIN TAU; MAPT; 157655 NADH-UBIQUINONE OXIDOREDUCTASE Fe-S PROTEIN 1; NDUFS1; 157700 MITRAL VALVE PROLAPSE, FAMILIAL; MVP; 157900 MOEBIUS SYNDROME 1; MBS1; 158120 MONOCYTE DIFFERENTIATION ANTIGEN CD14; CD14; 158300 MOUTH, INABILITY TO OPEN COMPLETELY, AND SHORT FINGER-FLEXOR TENDONS; 158600 MUSCULAR ATROPHY, JUVENILE SPINAL; 158900 FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1A; FSHMD1A; 159595 MYELOPROLIFERATIVE SYNDROME, TRANSIENT; 160790 MYOSIN, LIGHT CHAIN 3, ALKALI, VENTRICULAR, SKELETAL, SLOW; MYL3; 161000 NAEGELI SYNDROME; 161050 NAIL DYSPLASIA; 162280 NEUROFILAMENT PROTEIN, LIGHT POLYPEPTIDE; NEFL; 162350 CEROID LIPOFUSCINOSIS, NEURONAL, DOMINANT OR PARRY TYPE; 163400 NIEVERGELT SYNDROME; 164008 NUCLEAR FACTOR OF KAPPA LIGHT CHAIN GENE ENHANCER IN B CELLS INHIBITOR,; 164050 NUCLEOSIDE PHOSPHORYLASE; NP; 164210 HEMIFACIAL MICROSOMIA; HFM; 164220 OCULAR HYPOTELORISM, SUBMUCOSAL CLEFT PALATE, AND HYPOSPADIAS; 164230 OBSESSIVE-COMPULSIVE DISORDER 1; OCD1; 164280 OCULODIGITOESOPHAGODUODENAL SYNDROME; 164760 V-RAF-1 MURINE LEUKEMIA VIRAL ONCOGENE HOMOLOG 1; RAF1; 164900 OPHTHALMOMANDIBULOMELIC DYSPLASIA; 165660 OSLAM SYNDROME; 165700 OSTEOARTHROPATHY OF FINGERS, FAMILIAL; 165720 OSTEOARTHRITIS; 166700 BUSCHKE-OLLENDORFF SYNDROME; 166750 OTODENTAL DYSPLASIA; 167000 SUPPRESSOR OF TUMORIGENICITY 8; ST8; 167030 OXALATE, INCREASED MEMBRANE TRANSPORT FOR; 167730 PALPEBRAL COLOBOMA-LIPOMA SYNDROME; 167790 SERINE PROTEASE INHIBITOR, KAZAL-TYPE, 1; SPINK1; 168470 PARATHYROID HORMONE-LIKE HORMONE; PTHLH; 168605 PARKINSONISM WITH ALVEOLAR HYPOVENTILATION AND MENTAL DEPRESSION; 168820 PARAOXONASE 1; PON1; 169500 LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT; 170100 PEPTIDASE D; PEPD; 170993 PEROXISOMAL MEMBRANE PROTEIN 3; PXMP3; 170995 ATP-BINDING CASSETTE, SUBFAMILY D, MEMBER 3; ABCD3; 171000 PEYRONIE DISEASE; 172460 METHYLENETETRAHYDROFOLATE DEHYDROGENASE 1; MTHFD1; 172471 PHOSPHORYLASE KINASE, TESTIS/LIVER, GAMMA-2; PHKG2; 173110 POU DOMAIN, CLASS 1, TRANSCRIPTION FACTOR 1; POU1F1; 173350 PLASMINOGEN; PLG; 173370 PLASMINOGEN ACTIVATOR, TISSUE; PLAT; 173470 INTEGRIN, BETA-3; ITGB3; 173610 SELECTIN P; SELP; 173850 POLIOVIRUS RECEPTOR; PVR; 173910 POLYCYSTIC KIDNEY DISEASE 2; PKD2; 174000 MEDULLARY CYSTIC KIDNEY DISEASE 1; MCKD1; 174500 POLYDACTYLY, PREAXIAL II; PPD2; 174770 ACTINIC PRURIGO; 175100 ADENOMATOUS POLYPOSIS OF THE COLON; APC; 176000 PORPHYRIA, ACUTE INTERMITTENT; 176100 PORPHYRIA CUTANEA TARDA; 176261 POTASSIUM CHANNEL, VOLTAGE-GATED, ISK-RELATED SUBFAMILY, MEMBER 1;; 176300 TRANSTHYRETIN; TTR; 176730 INSULIN; INS; 176801 PROSAPOSIN; PSAP; 176860 PROTEIN C DEFICIENCY, CONGENITAL THROMBOTIC DISEASE DUE TO; 176880 PROTEIN S, ALPHA; PROS1; 176930 COAGULATION FACTOR II; F2; 176947 ZETA-CHAIN-ASSOCIATED PROTEIN KINASE; ZAP70; 177000 PROTOPORPHYRIA, ERYTHROPOIETIC; 177400 BUTYRYLCHOLINESTERASE; BCHE; 179503 RAS-RELATED ASSOCIATED WITH DIABETES; RRAD; 179600 RAYNAUD DISEASE; 179700 RED CELL PHOSPHOLIPID DEFECT WITH HEMOLYSIS; 180250 RETINOL-BINDING PROTEIN 4; RBP4; 180380 RHODOPSIN; RHO; 180660 POLYMERASE II, RNA, SUBUNIT A; POLR2A; 180700 ROBINOW SYNDROME; 180860 SILVER-RUSSELL SYNDROME; SRS; 180900 RUTHERFURD SYNDROME; 180920 SALIVARY GLANDS, ABSENCE OF; 180960 S-ADENOSYLHOMOCYSTEINE HYDROLASE; AHCY; 181400 AMYOTROPHY, SCAPULOPERONEAL; 181430 SCAPULOPERONEAL MYOPATHY; SPM; 181440 SCHEUERMANN DISEASE; 181515 SCHOLTE SYNDROME; 181600 SCLEROTYLOSIS; 181750 SCLERODERMA, FAMILIAL PROGRESSIVE; 182125 SEPIAPTERIN REDUCTASE; SPR; 182250 SINGLETON-MERTEN SYNDROME; 182410 SNEDDON SYNDROME; 182860 SPECTRIN, ALPHA, ERYTHROCYTIC 1; SPTA1; 182870 SPECTRIN, BETA, ERYTHROCYTIC; SPTB; 182900 SPHEROCYTOSIS, HEREDITARY; HS; 182980 SPINAL MUSCULAR ATROPHY, PROXIMAL, ADULT TYPE; 184757 NUCLEAR RECEPTOR SUBFAMILY 5, GROUP A, MEMBER 1; NR5A1; 184900 STIFF SKIN SYNDROME; 185050 STORAGE POOL PLATELET DISEASE; 185470 SUCCINATE DEHYDROGENASE COMPLEX, SUBUNIT B, IRON SULFUR PROTEIN; SDHB; 186350 SYNDACTYLY-POLYDACTYLY-EARLOBE SYNDROME; 186400 SYNOSTOSES, TARSAL, CARPAL AND DIGITAL; 186550 SYNOSTOSIS, CARPAL, WITH DYSPLASTIC ELBOW JOINTS AND BRACHYDACTYLY; 186921 LIM DOMAIN ONLY 1; LMO1; 186940 CD4 ANTIGEN; CD4; 187000 TEETH, ODD SHAPES OF; 187395 TERATOCARCINOMA-DERIVED GROWTH FACTOR 1; TDGF1; 188040 THROMBOMODULIN; THBD; 188070 THROMBOXANE A2 RECEPTOR, PLATELET; TBXA2R; 188840 TITIN; TTN; 190160 THYROID HORMONE RECEPTOR, BETA; THRB; 190182 TRANSFORMING GROWTH FACTOR-BETA RECEPTOR, TYPE II; TGFBR2; 190450 TRIOSEPHOSPHATE ISOMERASE 1; TPI1; 190605 TRIPHALANGEAL THUMB-POLYSYNDACTYLY SYNDROME; 190900 TRITANOPIA; 191044 TROPONIN I, CARDIAC; TNNI3; 191170 TUMOR PROTEIN p53; TP53; 191330 UBIQUINOL-CYTOCHROME c REDUCTASE-BINDING PROTEIN; UQCRB; 191342 UBIQUITIN CARBOXYL-TERMINAL ESTERASE L1; UCHL1; 191480 UNCOMBABLE HAIR SYNDROME; 191520 UPINGTON DISEASE; 192974 INTEGRIN, ALPHA-2; ITGA2; 193003 NYSTAGMUS 4, CONGENITAL, AUTOSOMAL DOMINANT; NYS4; 193090 R BINDER PROTEIN; 193300 VON HIPPEL-LINDAU SYNDROME; VHL; 193400 VON WILLEBRAND DISEASE; 193700 WHISTLING FACE-WINDMILL VANE HAND SYNDROME; 194350 WT LIMB-BLOOD SYNDROME; 194470 ZINC, ELEVATED PLASMA; 200350 ACETYL-CoA CARBOXYLASE-ALPHA; ACACA; 200990 ACROCALLOSAL SYNDROME; ACLS; 201000 ACROCEPHALOPOLYSYNDACTYLY TYPE II; 201300 ACROOSTEOLYSIS, NEUROGENIC; 201460 ACYL-CoA DEHYDROGENASE, LONG-CHAIN, DEFICIENCY OF; 201475 ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF; 201550 ADDUCTED THUMBS SYNDROME; 201810 ADRENAL HYPERPLASIA II; 202010 ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 11-BETA-HYDROXYLASE DEFICIENCY; 202110 ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 17-ALPHA-HYDROXYLASE DEFICIENCY; 203200 OCULOCUTANEOUS ALBINISM, TYPE II; OCA2; 203650 ALOPECIA-MENTAL RETARDATION SYNDROME; 203700 ALPERS DIFFUSE DEGENERATION OF CEREBRAL GRAY MATTER WITH HEPATIC CIRRHOSIS; 203740 ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY; 206700 ANIRIDIA, CEREBELLAR ATAXIA, AND MENTAL DEFICIENCY; 206920 ANOPHTHALMOS WITH LIMB ANOMALIES; 208050 ARTERIAL TORTUOSITY; 208150 PENA-SHOKEIR SYNDROME, TYPE I; 208200 ARTHROGRYPOSIS-LIKE DISORDER; 208400 ASPARTYLGLUCOSAMINURIA; 208500 ASPHYXIATING THORACIC DYSTROPHY; ATD; 208800 PYRUVATE DECARBOXYLASE DEFICIENCY; 209100 ATONIC-ASTATIC SYNDROME OF FOERSTER; 210000 BEHR SYNDROME; 210100 BETA-AMINOISOBUTYRIC ACID, URINARY EXCRETION OF; 210200 3-@METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY; 210210 3-@METHYLCROTONYL-CoA CARBOXYLASE 2 DEFICIENCY; 210710 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I; 211100 FUCOSYLTRANSFERASE 1; FUT1; 211180 BOWEN HUTTERITE SYNDROME; 211390 BRITTLE HAIR AND MENTAL DEFICIT; 211500 BULBAR PALSY, PROGRESSIVE, OF CHILDHOOD; 211530 BULBAR PALSY, PROGRESSIVE, WITH SENSORINEURAL DEAFNESS; 211750 C SYNDROME; 211890 CAMPOMELIA, CUMMING TYPE; 211960 CAMPTODACTYLY WITH MUSCULAR HYPOPLASIA, SKELETAL DYSPLASIA, AND ABNORMAL; 212138 SOLUTE CARRIER FAMILY 25 (CARNITINE/ACYLCARNITINE TRANSLOCASE), MEMBER; 212350 CATARACT AND CARDIOMYOPATHY; 212500 CATARACT, CONGENITAL OR JUVENILE; 212750 CELIAC DISEASE; CD; 212840 CEREBELLAR ATAXIA AND HYPOGONADOTROPIC HYPOGONADISM; 213100 CEREBELLOPARENCHYMAL DISORDER II; CPD II; 213200 CEREBELLAR ATAXIA 1; CLA1; 213300 JOUBERT SYNDROME 1; JBTS1; 213600 FAHR DISEASE; 214110 CEREBROHEPATORENAL SYNDROME, VARIANT TYPES; 214370 NEUROPATHY, HEREDITARY MOTOR AND SENSORY, WITH DEAFNESS, MENTAL RETARDATION,; 214900 CHOLESTASIS-LYMPHEDEMA SYNDROME; 214950 CHOLESTASIS, INTRAHEPATIC, WITH DEFECTIVE METABOLISM OF TRIHYDROXYCOPROSTANIC; 215470 CHORIORETINAL DYSTROPHY, SPINOCEREBELLAR ATAXIA, AND HYPOGONADOTROPIC; 216340 CLEIDOCRANIAL DYSPLASIA WITH MICROGNATHIA, ABSENT THUMBS, AND DISTAL; 216400 COCKAYNE SYNDROME, TYPE I; CKN1; 216950 COMPLEMENT COMPONENT C1r DEFICIENCY; 217000 COMPLEMENT COMPONENT 2 DEFICIENCY; 217030 I FACTOR; IF; 217050 COMPLEMENT COMPONENT 6 DEFICIENCY; 217070 COMPLEMENT COMPONENT 7 DEFICIENCY; 217400 CORNEAL DYSTROPHY AND PERCEPTIVE DEAFNESS; 217980 CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND ROBIN SEQUENCE; 218030 CORTISOL 11-BETA-KETOREDUCTASE DEFICIENCY; 218040 COSTELLO SYNDROME; 218330 CRANIOECTODERMAL DYSPLASIA; 218900 CROME SYNDROME; 219150 CUTIS LAXA, CORNEAL CLOUDING, AND MENTAL RETARDATION; 220210 DANDY-WALKER-LIKE MALFORMATION WITH ATRIOVENTRICULAR SEPTAL DEFECT; 220500 DEAFNESS, CONGENITAL, AND ONYCHODYSTROPHY, RECESSIVE FORM; 221745 MITOCHONDRIAL DEAFNESS MODIFIER GENE 1; MDM1; 221800 DERMOCHONDROCORNEAL DYSTROPHY; 222100 DIABETES MELLITUS, INSULIN-DEPENDENT; IDDM; 222448 DONNAI-BARROW SYNDROME; 222745 2,4-@DIENOYL-CoA REDUCTASE 1; DECR1; 222748 DIHYDROPYRIMIDINASE; DPYS; 222800 DIPHOSPHOGLYCERATE MUTASE DEFICIENCY OF ERYTHROCYTE; 222900 DISACCHARIDE INTOLERANCE I; 223360 DOPAMINE BETA-HYDROXYLASE, PLASMA; DBH; 223370 DUBOWITZ SYNDROME; 224050 DYSEQUILIBRIUM SYNDROME; DES; 224690 EAR, PATELLA, SHORT STATURE SYNDROME; 224750 SCHOPF-SCHULZ-PASSARGE SYNDROME; 225280 EEM SYNDROME; 225750 AICARDI-GOUTIERES SYNDROME 1; AGS1; 226750 EPILEPSY AND YELLOW TEETH; 226960 EPIPHYSEAL DYSPLASIA, MICROCEPHALY, AND NYSTAGMUS; 227260 FACIAL ECTODERMAL DYSPLASIA; 227330 FACIODIGITOGENITAL SYNDROME, RECESSIVE; 227400 FACTOR V DEFICIENCY; 227500 FACTOR VII DEFICIENCY; 227600 FACTOR X DEFICIENCY; 228000 FARBER LIPOGRANULOMATOSIS; 228100 FATTY METAMORPHOSIS OF VISCERA; 228960 FLAUJEAC FACTOR DEFICIENCY; 229000 FLETCHER FACTOR DEFICIENCY; 229200 FRAGILITAS OCULI WITH JOINT HYPEREXTENSIBILITY; 229600 FRUCTOSE INTOLERANCE, HEREDITARY; 229700 FRUCTOSE-1,6-BISPHOSPHATASE 1; FBP1; 229800 FRUCTOSURIA; 229850 FRYNS SYNDROME; FRNS; 230000 FUCOSIDOSIS; 230500 GANGLIOSIDOSIS, GENERALIZED GM1, TYPE I; 230740 GAPO SYNDROME; 231090 HYDATIDIFORM MOLE; 231670 GLUTARICACIDEMIA I; 231950 GLUTATHIONURIA; 232200 GLYCOGEN STORAGE DISEASE I; 232400 GLYCOGEN STORAGE DISEASE III; 232700 GLYCOGEN STORAGE DISEASE VI; 232800 GLYCOGEN STORAGE DISEASE VII; 233400 GONADAL DYSGENESIS, XX TYPE, WITH DEAFNESS; 234000 HAGEMAN FACTOR DEFICIENCY; 234050 HAIR-BRAIN SYNDROME; 234500 HARTNUP DISORDER; 235200 HEMOCHROMATOSIS; HFE; 235255 MULLERIAN DERIVATIVES, PERSISTENCE OF, WITH LYMPHANGIECTASIA AND POSTAXIAL; 235510 HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME; 235800 HISTIDINEMIA; 236100 HOLOPROSENCEPHALY 1, ALOBAR; HPE1; 236200 HOMOCYSTINURIA; 236680 HYDROLETHALUS SYNDROME; 236730 UROFACIAL SYNDROME; UFS; 238600 HYPERLIPOPROTEINEMIA, TYPE I; 239100 HYPEROSTOSIS CORTICALIS GENERALISATA; 239800 HYPERTELORISM, MICROTIA, FACIAL CLEFTING SYNDROME; 240200 HYPOADRENOCORTICISM, FAMILIAL; 241080 HYPOGONADISM, DIABETES MELLITUS, ALOPECIA, MENTAL RETARDATION, AND; 241150 HYPOKALEMIA, FAMILIAL; 242670 IMMOTILE CILIA SYNDROME DUE TO DEFECTIVE RADIAL SPOKES; 242700 IMMUNE DEFECT DUE TO ABSENCE OF THYMUS; 242840 IMMUNODEFICIENCY WITH CLEFT LIP/PALATE, CATARACT, HYPOPIGMENTATION,; 243150 INTESTINAL ATRESIA, MULTIPLE; 243180 INTESTINAL PSEUDOOBSTRUCTION DUE TO NEURONAL DISEASE; 243400 ISONIAZID INACTIVATION; 243600 JEJUNAL ATRESIA; 243800 JOHANSON-BLIZZARD SYNDROME; JBS; 244200 KALLMANN SYNDROME 3; KAL3; 244450 KAUFMAN OCULOCEREBROFACIAL SYNDROME; 245050 3-@OXOACID CoA TRANSFERASE; OXCT; 245100 KETOACIDURIA WITH MENTAL DEFICIENCY AND OTHER FEATURES; 245349 PYRUVATE DEHYDROGENASE COMPLEX, COMPONENT X; 245600 LARSEN SYNDROME, RECESSIVE; 245800 LAURENCE-MOON SYNDROME; 246300 LEPROSY, SUSCEPTIBILITY TO; 246400 LETTERER-SIWE DISEASE; 246450 3-@HYDROXY-3-METHYLGLUTARYL-CoA LYASE DEFICIENCY; 246530 LEUKOTRIENE C4 SYNTHASE; LTC4S; 246600 LIPASE, CONGENITAL ABSENCE OF PANCREATIC; 246700 CHYLOMICRON RETENTION DISEASE; CMRD; 248310 MALARIA, INTENSITY OF INFECTION IN; 248500 MANNOSIDOSIS, ALPHA B, LYSOSOMAL; 248510 MANNOSIDOSIS, BETA A, LYSOSOMAL; 248700 MARDEN-WALKER SYNDROME; 248800 MARINESCO-SJOGREN SYNDROME; MSS; 249000 MECKEL SYNDROME, TYPE 1; MKS1; 249210 MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME; 249310 MEGALOCORNEA-MENTAL RETARDATION SYNDROME; 249620 MENTAL RETARDATION, CONGENITAL HEART DISEASE, BLEPHAROPHIMOSIS, BLEPHAROPTOSIS,; 250790 METHEMOGLOBINEMIA DUE TO DEFICIENCY OF CYTOCHROME b5; 250800 METHEMOGLOBINEMIA DUE TO DEFICIENCY OF METHEMOGLOBIN REDUCTASE; 250850 METHIONINE ADENOSYLTRANSFERASE DEFICIENCY; 250900 METHIONINE MALABSORPTION SYNDROME; 251000 METHYLMALONICACIDURIA DUE TO METHYLMALONIC CoA MUTASE DEFICIENCY; 251170 MEVALONATE KINASE; MVK; 251230 MICROCEPHALY-MICROMELIA SYNDROME; 251270 MICROCEPHALY WITH CHORIORETINOPATHY; 251300 MICROCEPHALY, HIATUS HERNIA, AND NEPHROTIC SYNDROME; 251450 DESBUQUOIS SYNDROME; DBQD; 251850 MICROVILLUS INCLUSION DISEASE; 252350 MOYAMOYA DISEASE 1; MYMY1; 252500 MUCOLIPIDOSIS II; 252920 MUCOPOLYSACCHARIDOSIS TYPE IIIB; 252930 MUCOPOLYSACCHARIDOSIS TYPE IIIC; 253000 MUCOPOLYSACCHARIDOSIS TYPE IVA; 253200 MUCOPOLYSACCHARIDOSIS TYPE VI; 253220 MUCOPOLYSACCHARIDOSIS TYPE VII; 253260 BIOTINIDASE; BTD; 253270 MULTIPLE CARBOXYLASE DEFICIENCY; MCD; 253290 MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE; 253310 LETHAL CONGENITAL CONTRACTURE SYNDROME 1; 253700 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C; LGMD2C; 254900 MYOCLONUS-NEPHROPATHY SYNDROME; 256520 NEU-LAXOVA SYNDROME; NLS; 256540 NEURAMINIDASE DEFICIENCY WITH BETA-GALACTOSIDASE DEFICIENCY; 256600 NEUROAXONAL DYSTROPHY, INFANTILE; 256700 NEUROBLASTOMA; 256855 NEUROPATHY, HEREDITARY MOTOR AND SENSORY, WITH EXCESSIVE MYELIN FOLDING; 257800 OCULOCEREBRAL SYNDROME WITH HYPOPIGMENTATION; 257970 OCULORENOCEREBELLAR SYNDROME; 258870 ORNITHINE AMINOTRANSFERASE DEFICIENCY; 258900 OROTICACIDURIA I; 259450 BRUCK SYNDROME; 259730 OSTEOPETROSIS WITH RENAL TUBULAR ACIDOSIS; 259780 OTOONYCHOPERONEAL SYNDROME; 260300 PALLIDOPYRAMIDAL SYNDROME; 260565 PEHO SYNDROME; 260600 PELIZAEUS-MERZBACHER DISEASE, ACUTE INFANTILE TYPE; 261000 PERNICIOUS ANEMIA, CONGENITAL, DUE TO DEFECT OF INTRINSIC FACTOR; 261540 PETERS-PLUS SYNDROME; 261600 PHENYLKETONURIA; 261630 PHENYLKETONURIA II; 261640 6-@PYRUVOYLTETRAHYDROPTERIN SYNTHASE; PTS; 261650 PHOSPHOENOLPYRUVATE CARBOXYKINASE 2, MITOCHONDRIAL; PCK2; 261670 PHOSPHOGLYCERATE MUTASE, DEFICIENCY OF M SUBUNIT OF; 261680 PHOSPHOENOLPYRUVATE CARBOXYKINASE 1, SOLUBLE; PCK1; 262000 PILI TORTI AND NERVE DEAFNESS; 262850 PLASMIN INHIBITOR DEFICIENCY; 263210 POLYCYSTIC KIDNEY DISEASE, POTTER TYPE I, WITH MICROBRACHYCEPHALY,; 263520 SHORT RIB-POLYDACTYLY SYNDROME, TYPE II; 263530 SHORT RIB-POLYDACTYLY SYNDROME, TYPE I; 263650 POPLITEAL PTERYGIUM SYNDROME, LETHAL TYPE; 263750 POSTAXIAL ACROFACIAL DYSOSTOSIS; POADS; 264090 PROGEROID SYNDROME, NEONATAL; 264470 PSEUDONEONATAL ADRENOLEUKODYSTROPHY; 264700 PSEUDOVITAMIN D DEFICIENCY RICKETS; 264900 PTA DEFICIENCY; 265000 PTERYGIUM SYNDROME; 265900 PYLE DISEASE; 266150 PYRUVATE CARBOXYLASE DEFICIENCY; 266200 PYRUVATE KINASE DEFICIENCY OF ERYTHROCYTE; 267000 RENAL HAMARTOMAS, NEPHROBLASTOMATOSIS, AND FETAL GIGANTISM; 267430 RENAL TUBULAR DYSGENESIS; 267500 RETICULAR DYSGENESIA; 268300 ROBERTS SYNDROME; RBS; 269150 SCHINZEL-GIEDION MIDFACE-RETRACTION SYNDROME; 269860 SHORT RIB-POLYDACTYLY SYNDROME, TYPE IV; 270200 SJOGREN-LARSSON SYNDROME; 270700 SPASTIC PARAPLEGIA 15, AUTOSOMAL RECESSIVE; SPG15; 270750 SPASTIC PARAPLEGIA 23; SPG23; 270800 SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE; SPG5A; 271245 INFANTILE-ONSET SPINOCEREBELLAR ATAXIA; IOSCA; 271980 ALDEHYDE DEHYDROGENASE 5 FAMILY, MEMBER A1; ALDH5A1; 272440 SYNDACTYLY, TYPE I, WITH MICROCEPHALY AND MENTAL RETARDATION; 272750 TAY-SACHS DISEASE, AB VARIANT; 273300 TESTICULAR TUMORS; 273750 THREE M SYNDROME; 274000 THROMBOCYTOPENIA--ABSENT RADIUS SYNDROME; 274180 THROMBOXANE A SYNTHASE 1; TBXAS1; 274270 DIHYDROPYRIMIDINE DEHYDROGENASE; DPYD; 275120 THYROTROPIN-RELEASING HORMONE DEFICIENCY; 275210 TIGHT SKIN CONTRACTURE SYNDROME, LETHAL; 275350 TRANSCOBALAMIN II DEFICIENCY; 275355 TRANSFORMING GROWTH FACTOR, BETA-1 RESPONSE ELEMENT; 275360 TREHALASE; TREH; 276000 PROTEASE, SERINE, 1; PRSS1; 276600 TYROSINE TRANSAMINASE DEFICIENCY; 276700 TYROSINEMIA, TYPE I; 276710 TYROSINEMIA, TYPE III; 276820 ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY; 276900 USHER SYNDROME, TYPE IA; USH1A; 276903 MYOSIN VIIA; MYO7A; 276905 USHER SYNDROME, TYPE IIB; USH2B; 277150 VAN BOGAERT-HOZAY SYNDROME; 277470 PONTOCEREBELLAR HYPOPLASIA, TYPE 2; 277600 WEILL-MARCHESANI SYNDROME, AUTOSOMAL RECESSIVE; 277730 WERNICKE-KORSAKOFF SYNDROME; 277950 WINCHESTER DISEASE; 278000 WOLMAN DISEASE; 278250 WRINKLY SKIN SYNDROME; WSS; 300000 OPITZ SYNDROME; 300005 METHYL-CpG-BINDING PROTEIN 2; MECP2; 300034 ANGIOTENSIN II RECEPTOR, TYPE 2; AGTR2; 300076 IMMUNONEUROLOGIC DISORDER, X-LINKED; 300088 EPILEPSY, FEMALE RESTRICTED, WITH MENTAL RETARDATION; EFMR; 300095 SOLUTE CARRIER FAMILY 16 (MONOCARBOXYLIC ACID TRANSPORTER), MEMBER; 300104 GDP DISSOCIATION INHIBITOR 1; GDI1; 300142 p21-ACTIVATED KINASE 3; PAK3; 300209 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2; 300218 MENTAL RETARDATION, X-LINKED, SYNDROMIC 7; MRXS7; 300221 HODGKIN DISEASE, X-LINKED PSEUDOAUTOSOMAL; 300229 VARIABLY CHARGED, X CHROMOSOME; VCX; 300238 MENTAL RETARDATION, X-LINKED, SYNDROMIC 11; MRXS11; 300244 TERMINAL OSSEOUS DYSPLASIA AND PIGMENTARY DEFECTS; 300260 LUBS X-LINKED MENTAL RETARDATION SYNDROME; 300261 ARMFIELD X-LINKED MENTAL RETARDATION SYNDROME; 300262 ABIDI X-LINKED MENTAL RETARDATION SYNDROME; 300263 SIDERIUS X-LINKED MENTAL RETARDATION SYNDROME; 300300 BRUTON AGAMMAGLOBULINEMIA TYROSINE KINASE; BTK; 300321 FG SYNDROME 2; FGS2; 300351 GRAVES DISEASE, SUSCEPTIBILITY TO, X-LINKED; 300388 POLYMICROGYRIA, BILATERAL PERISYLVIAN; 300406 FG SYNDROME 3; FGS3; 300421 WITTWER SYNDROME; 300422 FG SYNDROME 4; 300434 STOCCO DOS SANTOS X-LINKED MENTAL RETARDATION SYNDROME; 300442 TARP SYNDROME; 300464 CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 3; 300500 ALBINISM, OCULAR, TYPE I; OA1; 300600 ALBINISM, OCULAR, TYPE II; OA2; 300700 ALBINISM-DEAFNESS SYNDROME; ADFN; 301100 AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE; AIH; 301220 AMYLOIDOSIS, FAMILIAL CUTANEOUS; 301300 ANEMIA, SIDEROBLASTIC, X-LINKED; 301500 FABRY DISEASE; 301830 ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, X-LINKED; 301835 ATAXIA, FATAL X-LINKED, WITH DEAFNESS AND LOSS OF VISION; 301845 BAZEX SYNDROME; BZX; 302500 CEREBELLAR ATAXIA 2; CLA2; 302801 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 2; CMTX2; 302802 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 3; CMTX3; 303700 COLORBLINDNESS, BLUE-MONO-CONE-MONOCHROMATIC TYPE; CBBM; 303800 COLORBLINDNESS, PARTIAL, DEUTAN SERIES; CBD; 304050 CORPUS CALLOSUM, AGENESIS OF, WITH CHORIORETINAL ABNORMALITY; 304110 CRANIOFRONTONASAL SYNDROME; CFNS; 304800 DIABETES INSIPIDUS, NEPHROGENIC, X-LINKED; 305371 GATA-BINDING PROTEIN 1; GATA1; 305400 FACIOGENITAL DYSPLASIA; 305435 F-CELL PRODUCTION 1; FCP1; 305450 FG SYNDROME; FGS1; 305600 FOCAL DERMAL HYPOPLASIA; DHOF; 305900 GLUCOSE-6-PHOSPHATE DEHYDROGENASE; G6PD; 306000 GLYCOGEN STORAGE DISEASE VIII; 306100 GONADAL DYSGENESIS, XY FEMALE TYPE; GDXY; 306700 HEMOPHILIA A; 306900 HEMOPHILIA B; HEMB; 307800 HYPOPHOSPHATEMIA, X-LINKED; 308100 ICHTHYOSIS, X-LINKED; 308205 ICHTHYOSIS FOLLICULARIS, ATRICHIA, AND PHOTOPHOBIA SYNDROME; 308240 LYMPHOPROLIFERATIVE SYNDROME; 308700 KALLMANN SYNDROME 1; KAL1; 309000 LOWE OCULOCEREBRORENAL SYNDROME; OCRL; 309200 MAJOR AFFECTIVE DISORDER 2; MAFD2; 309500 RENPENNING SYNDROME 1; RENS1; 309520 MENTAL RETARDATION, X-LINKED, WITH MARFANOID HABITUS; 309548 FRAGILE SITE, FOLIC ACID TYPE, RARE, FRA(X)(q28); FRAXE; 309555 MENTAL RETARDATION WITH OPTIC ATROPHY, DEAFNESS, AND SEIZURES; 309583 MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE; 309585 WILSON-TURNER X-LINKED MENTAL RETARDATION SYNDROME; WTS; 309600 MENTAL RETARDATION, X-LINKED, WITH HYPOTONIA; 309605 MILES-CARPENTER X-LINKED MENTAL RETARDATION SYNDROME; MCS; 309610 PRIETO X-LINKED MENTAL RETARDATION SYNDROME; PRS; 309620 MENTAL RETARDATION, SKELETAL DYSPLASIA, AND ABDUCENS PALSY; MRSD; 309800 MICROPHTHALMIA WITH ASSOCIATED ANOMALIES; MAA; 309801 MICROPHTHALMIA WITH LINEAR SKIN DEFECTS; MLS; 309850 MONOAMINE OXIDASE A; MAOA; 309900 MUCOPOLYSACCHARIDOSIS TYPE II; 310460 MYOPIA 1; MYP1; 310490 NEUROPATHY, AXONAL MOTOR-SENSORY, WITH DEAFNESS AND MENTAL RETARDATION;; 310600 NORRIE DISEASE; NDP; 311000 OPHTHALMOPLEGIA, EXTERNAL, AND MYOPIA; OPEM; 311510 PARKINSONISM, EARLY-ONSET, WITH MENTAL RETARDATION; 311770 PHOSPHATIDYLINOSITOL GLYCAN, CLASS A; PIGA; 312170 PYRUVATE DEHYDROGENASE COMPLEX, E1-ALPHA POLYPEPTIDE 1; PDHA1; 312700 RETINOSCHISIS 1, X-LINKED, JUVENILE; RS1; 312820 SARCOMA, SYNOVIAL, X BREAKPOINT 1; SSX1; 313000 SPATIAL VISUALIZATION, APTITUDE FOR; 313850 THORACOABDOMINAL SYNDROME; THAS; 314200 THYROXINE-BINDING GLOBULIN OF SERUM; TBG; 314300 TORTICOLLIS, KELOIDS, CRYPTORCHIDISM, AND RENAL DYSPLASIA; TKCR; 314400 CARDIAC VALVULAR DYSPLASIA, X-LINKED; CVD1; 314500 VAN DEN BOSCH SYNDROME; 314580 WIEACKER SYNDROME; 314850 KELL BLOOD GROUP PRECURSOR; XK; 314995 ZINC FINGER PROTEIN 41; ZNF41; 400021 HODGKIN DISEASE, Y-LINKED PSEUDOAUTOSOMAL; 415000 AZOOSPERMIA FACTOR 1; AZF1; 600046 ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 1; ABCA1; 600151 BARDET-BIEDL SYNDROME 3; BBS3; 600185 BREAST CANCER 2 GENE; BRCA2; 600193 WAARDENBURG SYNDROME, TYPE IIB; WS2B; 600223 SPINOCEREBELLAR ATAXIA 4; SCA4; 600258 POSTMEIOTIC SEGREGATION INCREASED, S. CEREVISIAE, 1; PMS1; 600259 POSTMEIOTIC SEGREGATION INCREASED, S. CEREVISIAE, 2; PMS2; 600279 PEROXISOMAL FARNESYLATED PROTEIN; PXF; 600301 ACYL-CoA DEHYDROGENASE, SHORT/BRANCHED CHAIN; ACADSB; 600332 RIPPLING MUSCLE DISEASE 1; RMD1; 600343 PAROTID SALIVARY GLANDS, POLYCYSTIC DISEASE OF; 600361 HEREDITARY MOTOR AND SENSORY NEUROPATHY V; 600376 OSLER-RENDU-WEBER SYNDROME 2; ORW2; 600383 MESOMELIA-SYNOSTOSES SYNDROME; 600430 BRACHYDACTYLY-MENTAL RETARDATION SYNDROME; 600510 GLAUCOMA-RELATED PIGMENT DISPERSION SYNDROME; 600515 PURINERGIC RECEPTOR P2Y, G PROTEIN-COUPLED, 12; P2RY12; 600542 NUCLEAR RECEPTOR SUBFAMILY 4, GROUP A, MEMBER 3; NR4A3; 600555 SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 1; STAT1; 600630 UV-SENSITIVE SYNDROME; UVS; 600635 THYROID TRANSCRIPTION FACTOR 1; TITF1; 600638 FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3; FEOM3; 600678 MutS, E. COLI, HOMOLOG OF, 6; MSH6; 600726 INDIAN HEDGEHOG; IHH; 600901 FANCONI ANEMIA, COMPLEMENTATION GROUP E; FANCE; 600920 VAN DEN ENDE-GUPTA SYNDROME; VDEGS; 600929 CRYSTALLIN, BETA-B1; CRYBB1; 600950 ARYLALKYLAMINE N-ACETYLTRANSFERASE; AANAT; 600964 REFSUM DISEASE WITH INCREASED PIPECOLICACIDEMIA; RDPA; 601110 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id; 601199 CALCIUM-SENSING RECEPTOR; CASR; 601228 COLORECTAL ADENOMA AND CARCINOMA 1; CRAC1; 601240 GUANIDINOACETATE METHYLTRANSFERASE; GAMT; 601284 ACTIVIN A RECEPTOR, TYPE II-LIKE KINASE 1; ACVRL1; 601309 PATCHED, DROSOPHILA, HOMOLOG OF; PTCH; 601316 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 10; DFNA10; 601362 DIGEORGE SYNDROME/VELOCARDIOFACIAL SYNDROME SPECTRUM OF MALFORMATION; 601458 INFLAMMATORY BOWEL DISEASE 2; IBD2; 601471 MOEBIUS SYNDROME 2; MBS2; 601489 INSULIN-LIKE GROWTH FACTOR-BINDING PROTEIN, ACID-LABILE SUBUNIT; IGFALS; 601498 PEROXISOME BIOGENESIS FACTOR 6; PEX6; 601499 RIEGER SYNDROME, TYPE 2; RIEG2; 601515 FIBROBLAST GROWTH FACTOR 14; FGF14; 601536 NAVAJO BRAIN STEM SYNDROME; 601538 PROPHET OF PIT1, PAIRED-LIKE HOMEODOMAIN TRANSCRIPTION FACTOR; PROP1; 601568 ADDUCIN 3; ADD3; 601592 RECEPTOR-ASSOCIATED PROTEIN OF THE SYNAPSE, 43-KD; RAPSN; 601607 SWI/SNF-RELATED, MATRIX-ASSOCIATED, ACTIN-DEPENDENT REGULATOR OF CHROMATIN,; 601609 L-3-@HYDROXYACYL-CoA DEHYDROGENASE, SHORT CHAIN; HADHSC; 601690 PHOSPHOLIPASE A2, GROUP VII; PLA2G7; 601693 UNCOUPLING PROTEIN 2; UCP2; 601709 QUEBEC PLATELET DISORDER; QPD; 601758 PEROXISOME BIOGENESIS FACTOR 12; PEX12; 601776 ADDUCTED THUMB-CLUBFOOT SYNDROME; 601789 PEROXISOME BIOGENESIS FACTOR 13; PEX13; 601794 COLOBOMA-OBESITY-HYPOGENITALISM-MENTAL RETARDATION SYNDROME; 601844 PROTEIN KINASE, LYSINE-DEFICIENT 4; PRKWNK4; 601920 JAGGED 1; JAG1; 602066 INFANTILE CONVULSIONS AND PAROXYSMAL CHOREOATHETOSIS, FAMILIAL; ICCA; 602077 ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME; 602096 ALZHEIMER DISEASE, FAMILIAL, TYPE 5; 602097 USHER SYNDROME, TYPE IE; USH1E; 602124 DYSTONIA 7, TORSION; DYT7; 602136 PEROXISOME BIOGENESIS FACTOR 1; PEX1; 602225 CONE-ROD HOMEOBOX-CONTAINING GENE; CRX; 602248 MALIGNANT ATROPHIC PAPULOSIS; 602322 TELOMERASE RNA COMPONENT; TERC; 602360 L-ARGININE:GLYCINE AMIDINOTRANSFERASE; GATM; 602404 PARKINSON DISEASE 3, AUTOSOMAL DOMINANT LEWY BODY; PARK3; 602439 ACUTE MYELOGENOUS LEUKEMIA; 602669 PAIRED-LIKE HOMEODOMAIN TRANSCRIPTION FACTOR 3; PITX3; 602859 PEROXISOME BIOGENESIS FACTOR 10; PEX10; 602875 ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE; AMDM; 602914 AQUAPORIN 9; AQP9; 602935 FATTY ACID AMIDE HYDROLASE; FAAH; 602956 X-RAY REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 9; XRCC9; 603005 3-PRIME-@PHOSPHOADENOSINE 5-PRIME-PHOSPHOSULFATE SYNTHASE 2; PAPSS2; 603030 TOLL-LIKE RECEPTOR 4; TLR4; 603073 ZINC FINGER PROTEIN OF CEREBELLUM, 2; ZIC2; 603100 1-@ACYLGLYCEROL-3-PHOSPHATE O-ACYLTRANSFERASE 2; AGPAT2; 603164 PEROXISOME BIOGENESIS FACTOR 3; PEX3; 603165 DERMATITIS, ATOPIC; 603194 MECKEL SYNDROME, TYPE 2; MKS2; 603324 GAP JUNCTION PROTEIN, BETA-3; GJB3; 603360 PEROXISOME BIOGENESIS FACTOR 16; PEX16; 603372 THYROID-STIMULATING HORMONE RECEPTOR; TSHR; 603388 GRAVES DISEASE, SUSCEPTIBILITY TO, 2; 603503 DOLICHYL-PHOSPHATE MANNOSYLTRANSFERASE 1, CATALYTIC SUBUNIT; DPM1; 603516 SPINOCEREBELLAR ATAXIA 10; SCA10; 603650 BARDET-BIEDL SYNDROME 5; BBS5; 603680 SPINOCEREBELLAR ATAXIA 8; SCA8; 603796 POTASSIUM CHANNEL, VOLTAGE-GATED, ISK-RELATED SUBFAMILY, MEMBER 2;; 603967 SODIUM CHANNEL, VOLTAGE-GATED, TYPE IV, ALPHA SUBUNIT; SCN4A; 604185 MOEBIUS SYNDROME 3; MBS3; 604210 CRUMBS, DROSOPHILA, HOMOLOG OF, 1; CRB1; 604213 CHUDLEY-MCCULLOUGH SYNDROME; 604356 DUANE RETRACTION SYNDROME 2; 604365 PROMININ 1; PROM1; 604373 CHECKPOINT KINASE 2, S. POMBE, HOMOLOG OF; CHEK2; 604489 ALPHA-METHYLACYL-CoA RACEMASE; AMACR; 604492 VOLTAGE-DEPENDENT ANION CHANNEL 1; VDAC1; 604515 B-CELL LINKER PROTEIN; BLNK; 604517 PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-GAMMA, COACTIVATOR 1; PPARGC1; 604519 INFLAMMATORY BOWEL DISEASE 3; IBD3; 604547 VAN DER WOUDE SYNDROME MODIFIER; 604705 MER TYROSINE KINASE PROTOONCOGENE; MERTK; 604802 HUNTINGTON DISEASE-LIKE 3; HDL3; 605041 SPIEGLER-BROOKE SYNDROME; 605055 ALZHEIMER DISEASE, EARLY-ONSET FAMILIAL, WITH COEXISTING AMYLOID AND; 605102 MANNAN-BINDING LECTIN SERINE PROTEASE 2; MASP2; 605225 INFLAMMATORY BOWEL DISEASE 7; IBD7; 605232 PROTEIN KINASE, LYSINE-DEFICIENT 1; PRKWNK1; 605233 DIANZANI AUTOIMMUNE LYMPHOPROLIFERATIVE DISEASE; 605275 NOONAN SYNDROME 2; 605382 INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL; 605441 ADIPOSE MOST ABUNDANT GENE TRANSCRIPT 1; 605526 ALZHEIMER DISEASE 6; 605552 ABDOMINAL OBESITY-METABOLIC SYNDROME; 605572 ABDOMINAL OBESITY-METABOLIC SYNDROME QUANTITATIVE TRAIT LOCUS 2; 605589 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B2; 605608 CLAUDIN 14; CLDN14; 605627 CEREBROOCULONASAL SYNDROME; 605681 BROMODOMAIN ADJACENT TO ZINC FINGER DOMAIN, 1B; BAZ1B; 605711 MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME; 605827 BASALOID FOLLICULAR HAMARTOMA SYNDROME, GENERALIZED, AUTOSOMAL DOMINANT; 605909 PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK6; 605913 BLEEDING DISORDER, EAST TEXAS TYPE; 605967 ACROPECTORAL SYNDROME; 606071 HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC; 606170 GENITOPATELLAR SYNDROME; 606187 ALZHEIMER DISEASE 7; 606263 PAGET DISEASE OF BONE 4; PDB4; 606348 INFLAMMATORY BOWEL DISEASE 5; IBD5; 606482 CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B; 606483 CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE A; 606595 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F; 606599 THIOREDOXIN-INTERACTING PROTEIN; TXNIP; 606631 CAMURATI-ENGELMANN DISEASE, TYPE II; 606656 BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 2; 606662 WAARDENBURG SYNDROME, TYPE IIC; 606668 INFLAMMATORY BOWEL DISEASE 8; 606674 INFLAMMATORY BOWEL DISEASE 6; IBD6; 606675 INFLAMMATORY BOWEL DISEASE 4; IBD4; 606693 PARKINSON DISEASE 9; PARK9; 606713 VAN DER WOUDE SYNDROME 2; 606744 SECKEL SYNDROME 2; SCKL2; 606787 PERIPHERAL ARTERIAL OCCLUSIVE DISEASE 1; 606852 PARKINSON DISEASE 10; PARK10; 606874 HIRSCHSPRUNG DISEASE, SHORT-SEGMENT, 2; 606875 HIRSCHSPRUNG DISEASE, SHORT-SEGMENT, 3; 606963 PULMONARY DISEASE, CHRONIC OBSTRUCTIVE, SEVERE EARLY-ONSET; 606995 SENIOR-LOKEN SYNDROME 3; SLSN3; 607060 PARKINSON DISEASE 8; PARK8; 607116 ALZHEIMER DISEASE 8; 607151 MOYAMOYA DISEASE 2; MYMY2; 607313 GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS; HGPPS; 607339 CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 1; 607361 MECKEL SYNDROME, TYPE 3; MKS3; 607516 MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 6; 607596 PONTOCEREBELLAR HYPOPLASIA, TYPE 1; 607598 LETHAL CONGENITAL CONTRACTURE SYNDROME 2; 607626 ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS; 607656 CURLY HAIR-ACRAL KERATODERMA-CARIES SYNDROME; 607658 HYPOTRICHOSIS-OSTEOLYSIS-PERIODONTITIS-PALMOPLANTAR KERATODERMA SYNDROME; 607688 PARKINSON DISEASE 11; 607708 CALCIUM/CALMODULIN-DEPENDENT PROTEIN KINASE II-DELTA; CAMK2D; 607818 ZINC FINGER PROTEIN 365; 607836 AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 1; AIS1; 607853 PANIC DISORDER 1; 607936 EXFOLIATIVE ICHTHYOSIS, AUTOSOMAL RECESSIVE, ICHTHYOSIS BULLOSA OF; 608068 NEUTROPHILIC DERMATOSIS, ACUTE FEBRILE; 608091 CEREBELLOOCULORENAL SYNDROME 2; CORS2; 608111 PHD FINGER PROTEIN 9; PHF9; 608145 NONIMPRINTED GENE IN PRADER-WILLI SYNDROME/ANGELMAN SYNDROME CHROMOSOME; 608146 NONIMPRINTED GENE IN PRADER-WILLI SYNDROME/ANGELMAN SYNDROME CHROMOSOME; 608173 AUTOIMMUNE THYROID DISEASE, SUSCEPTIBILITY TO, 1; 608174 AUTOIMMUNE THYROID DISEASE, SUSCEPTIBILITY TO, 2; 608175 AUTOIMMUNE THYROID DISEASE, SUSCEPTIBILITY TO, 3; 608176 AUTOIMMUNE THYROID DISEASE, SUSCEPTIBILITY TO, 4; 608189 TROPICAL CALCIFIC PANCREATITIS; 608290 LELIS SYNDROME; 608316 CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 2; 608318 CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 4; 608323 CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE C; 608389 BRANCHIOOTIC SYNDROME 3; 608391 AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 2; AIS2; 608392 AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 3; AIS3; 608395 KARAK SYNDROME; 608445 SPEECH-SOUND DISORDER; 608448 INFLAMMATORY BOWEL DISEASE 9; IBD9; 608454 KNOBLOCH SYNDROME, TYPE II; 608520 MAJOR DEPRESSIVE DISORDER 1; Clinical Synopsis for 193510 WAARDENBURG SYNDROME, TYPE IIA; WS2A; Clinical Synopsis for 270800 SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE; SPG5A; Clinical Synopsis for 606612 MUSCULAR DYSTROPHY, CONGENITAL, 1C; MDC1C

March 16, 2004
New Entries:: 300487 ACTIN-RELATED PROTEIN T1; 608528 CELL DIVISION CYCLE 91, S. CEREVISIAE, HOMOLOG-LIKE 1; CDC91L1; 608529 FIBRILLIN 3; FBN3; 608530 BTB/POX DOMAIN-CONTAINING PROTEIN 1; BTBD1; 608531 BTB/POZ DOMAIN-CONTAINING PROTEIN 2; BTBD2; 608532 MORE THAN BLOOD, MOUSE, HOMOLOG OF; 608533 MODULATOR OF KLF7 ACTIVITY, MOUSE, HOMOLOG OF; 608534 ACTIN-RELATED PROTEIN M1; 608535 ACTIN-RELATED PROTEIN M2
Changed Entries:: 114130 CALCITONIN/CALCITONIN-RELATED POLYPEPTIDE, ALPHA; CALCA; 133450 EWING SARCOMA BREAKPOINT REGION 1; EWSR1; 157300 MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1; 158120 MONOCYTE DIFFERENTIATION ANTIGEN CD14; CD14; 159555 MYELOID/LYMPHOID OR MIXED LINEAGE LEUKEMIA; MLL; 160742 MYOSIN, HEAVY CHAIN 4, SKELETAL MUSCLE; MYH4; 166490 SECRETED PHOSPHOPROTEIN 1; SPP1; 186770 T-CELL LEUKEMIA, HOMEOBOX 1; TLX1; 201910 ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY; 230900 GAUCHER DISEASE, TYPE II; 231000 GAUCHER DISEASE, TYPE III; 252350 MOYAMOYA DISEASE 1; MYMY1; 256800 INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS; CIPA; 274600 PENDRED SYNDROME; PDS; 304340 DANDY-WALKER MALFORMATION WITH MENTAL RETARDATION, BASAL GANGLIA DISEASE,; 309550 FRAGILE SITE MENTAL RETARDATION 1 GENE; FMR1; 600163 SODIUM CHANNEL, VOLTAGE-GATED, TYPE V, ALPHA SUBUNIT; SCN5A; 601144 BRUGADA SYNDROME; 602522 BARTTER SYNDROME, INFANTILE, WITH SENSORINEURAL DEAFNESS; 603717 ATPase, H+ TRANSPORTING, LYSOSOMAL, 21 KD, V0 SUBUNIT C-PRIME, PRIME;; 603830 LONG QT SYNDROME 3; LQT3; 604240 T-CELL LEUKEMIA, HOMEOBOX 2; TLX2; 605493 TRIPARTITE MOTIF-CONTAINING 3; TRIM3; 605646 SOLUTE CARRIER FAMILY 26, MEMBER 4; SLC26A4; 606415 CANDIDIASIS, FAMILIAL CHRONIC MUCOCUTANEOUS, AUTOSOMAL DOMINANT, WITH; 606599 THIOREDOXIN-INTERACTING PROTEIN; TXNIP; 607115 CINCA SYNDROME; CINCA; 607151 MOYAMOYA DISEASE 2; MYMY2; 607708 CALCIUM/CALMODULIN-DEPENDENT PROTEIN KINASE II-DELTA; CAMK2D; 608487 TRIPARTITE MOTIF-CONTAINING PROTEIN 5; TRIM5; 608526 PERIODONTITIS, LOCALIZED AGGRESSIVE; 608529 FIBRILLIN 3; FBN3

March 15, 2004
New Entries:: 300481 CYTOCHROME b(-245), BETA SUBUNIT; CYBB; 300485 BCL6 COREPRESSOR; BCOR; 300486 MENTAL RETARDATION, X-LINKED 60, MRX60; 608508 CYTOCHROME b(-245), ALPHA SUBUNIT; CYBA; 608512 NEUTROPHIL CYTOSOLIC FACTOR 1; NCF1; 608515 NEUTROPHIL CYTOSOLIC FACTOR 2; NCF2; 608523 DIO3, OPPOSITE STRAND; DIO3OS; 608524 INHIBITOR OF GROWTH 4; ING4; 608525 INHIBITOR OF GROWTH 5; ING5; 608526 PERIODONTITIS, LOCALIZED AGGRESSIVE; 608527 NEURAMINIDASE 4; NEU4; Clinical Synopsis for 300472 CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA,; Clinical Synopsis for 602473 ENCEPHALOPATHY, ETHYLMALONIC; Clinical Synopsis for 604320 SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1; SMARD1; Clinical Synopsis for 608115 OVARIAN HYPERSTIMULATION SYNDROME; Clinical Synopsis for 608423 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1F; LGMD1F
Changed Entries:: 102600 ADENINE PHOSPHORIBOSYLTRANSFERASE; APRT; 109400 BASAL CELL NEVUS SYNDROME; BCNS; 131244 ENDOTHELIN RECEPTOR, TYPE B; EDNRB; 134638 TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 6; TNFSF6; 137760 GLAUCOMA, PRIMARY OPEN ANGLE, ADULT-ONSET; POAG; 145420 HYPERTELORISM, TEEBI TYPE; 147460 SUPEROXIDE DISMUTASE 2; SOD2; 152700 LUPUS ERYTHEMATOSUS, SYSTEMIC; SLE; 153000 LYMPHEDEMA AND PTOSIS; 153800 MACULAR DEGENERATION, AGE-RELATED, 2; ARMD2; 158343 ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 1; ABCC1; 165170 SPLEEN FOCUS FORMING VIRUS PROVIRAL INTEGRATION ONCOGENE SPI1; SPI1; 175100 ADENOMATOUS POLYPOSIS OF THE COLON; APC; 191170 TUMOR PROTEIN p53; TP53; 192240 VASCULAR ENDOTHELIAL GROWTH FACTOR; VEGF; 214200 CEROID STORAGE DISEASE; 224690 EAR, PATELLA, SHORT STATURE SYNDROME; 228930 FIBULAR APLASIA OR HYPOPLASIA, FEMORAL BOWING AND POLY-, SYN-, AND; 233690 GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE; 233700 GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE,; 233710 GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE,; 253000 MUCOPOLYSACCHARIDOSIS TYPE IVA; 259775 OSTEOSCLEROTIC BONE DYSPLASIA, LETHAL; 270680 MOVED TO 270750; 276850 MOVED TO 274150; 300040 SMC1-LIKE 1; SMC1L1; 300127 OLIGOPHRENIN 1; OPHN1; 300148 MENTAL RETARDATION, EPILEPTIC SEIZURES, HYPOGONADISM AND HYPOGENITALISM,; 300187 SUSHI REPEAT-CONTAINING PROTEIN, X CHROMOSOME; SRPX; 300225 NADPH OXIDASE 1; NOX1; 300481 CYTOCHROME b(-245), BETA SUBUNIT; CYBB; 306400 GRANULOMATOUS DISEASE, CHRONIC, X-LINKED; CGD; 312700 RETINOSCHISIS 1, X-LINKED, JUVENILE; RS1; 600040 BCL2-ASSOCIATED X PROTEIN; BAX; 600703 RIBOSOMAL PROTEIN S1-LIKE; RPS1L; 601038 DEIODINASE, IODOTHYRONINE, TYPE III; DIO3; 601488 NEUTROPHIL CYTOSOLIC FACTOR 4; NCF4; 601995 TENASCIN-R; TNR; 602170 MYELOID DIFFERENTIATION PRIMARY RESPONSE GENE 88; MYD88; 602842 GEMININ; GMNN; 603075 MACULAR DEGENERATION, AGE-RELATED, 1; ARMD1; 603174 HOMOCYSTEINEMIA; 604229 PETERS ANOMALY; 605100 PROTEIN PHOSPHATASE, MAGNESIUM-DEPENDENT, 1, DELTA ISOFORM; PPM1D; 605261 NADPH OXIDASE 4; NOX4; 605745 DUODENAL CYTOCHROME b; 606572 NADPH OXIDASE 5; NOX5; 606758 DUAL OXIDASE 1; DUOX1; 606759 DUAL OXIDASE 2; DUOX2; 606986 PROTEIN TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 22; PTPN22; 607105 NADPH OXIDASE 3; NOX3; 607493 INHIBITOR OF GROWTH 3; ING3; 608042 C2 DOMAIN-CONTAINING PROTEIN JFC1; 608203 NEUTROPHIL IMMUNODEFICIENCY SYNDROME; 608515 NEUTROPHIL CYTOSOLIC FACTOR 2; NCF2; 608525 INHIBITOR OF GROWTH 5; ING5; 608526 PERIODONTITIS, LOCALIZED AGGRESSIVE; Clinical Synopsis for 210000 BEHR SYNDROME; Clinical Synopsis for 233690 GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE; Clinical Synopsis for 233700 GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE,; Clinical Synopsis for 233710 GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE,; Clinical Synopsis for 270680 MOVED TO 270750; Clinical Synopsis for 276850 MOVED TO 274150; Clinical Synopsis for 300472 CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA,; Clinical Synopsis for 302800 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED, 1; CMTX1; Clinical Synopsis for 306400 GRANULOMATOUS DISEASE, CHRONIC, X-LINKED; CGD; Clinical Synopsis for 600513 EPILEPSY, NOCTURNAL FRONTAL LOBE, TYPE 1; Clinical Synopsis for 601419 DESMIN-RELATED MYOPATHY

March 11, 2004
New Entries:: 608505 CREE ENCEPHALITIS; 608516 MAJOR DEPRESSIVE DISORDER; MDD; 608520 MAJOR DEPRESSIVE DISORDER 1; 608521 HEPATITIS B VIRUS X PROTEIN-INTERACTING PROTEIN; HBXIP; 608522 HEPATITIS B VIRUS X-ASSOCIATED PROTEIN; HBXAP; Clinical Synopsis for 606324 PARKINSON DISEASE, TYPE 7, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK7
Changed Entries:: 104640 AMPHIREGULIN; AREG; 116806 CATENIN, BETA-1; CTNNB1; 118850 CHORIONIC GONADOTROPIN, ALPHA CHAIN; CGA; 122561 CORTICOTROPIN-RELEASING HORMONE RECEPTOR 1; CRHR1; 132810 EPOXIDE HYDROLASE 1, MICROSOMAL; EPHX1; 136350 FIBROBLAST GROWTH FACTOR RECEPTOR 1; FGFR1; 148600 KERATOSIS PALMOPLANTARIS PAPULOSA; 152780 LUTEINIZING HORMONE, BETA POLYPEPTIDE; LHB; 152790 LUTEINIZING HORMONE/CHORIOGONADOTROPIN RECEPTOR; LHCGR; 153620 MACROPHAGE MIGRATION INHIBITORY FACTOR; MIF; 164014 V-REL AVIAN RETICULOENDOTHELIOSIS VIRAL ONCOGENE HOMOLOG A; RELA; 164820 WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 1; WNT1; 170261 TRANSPORTER, ATP-BINDING CASSETTE, MAJOR HISTOCOMPATIBILITY COMPLEX,; 175860 POROKERATOSIS PUNCTATA PALMARIS ET PLANTARIS; PPPP; 180660 POLYMERASE II, RNA, SUBUNIT A; POLR2A; 180902 RYANODINE RECEPTOR 2; RYR2; 188050 THROMBOPHILIA; 189963 GENERAL TRANSCRIPTION FACTOR IIB; GTF2B; 191190 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 1A; TNFRSF1A; 201475 ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF; 225750 AICARDI-GOUTIERES SYNDROME 1; AGS1; 227400 FACTOR V DEFICIENCY; 251290 PSEUDO-TORCH SYNDROME; 314670 X INACTIVATION-SPECIFIC TRANSCRIPT; XIST; 600345 BETACELLULIN; BTC; 602061 EPIREGULIN; EREG; 602842 GEMININ; 602938 BILE ACID CoA:AMINO ACID N-ACYLTRANSFERASE; BAAT; 603352 BACULOVIRAL IAP REPEAT-CONTAINING PROTEIN 5; BIRC5; 603375 SWI/SNF-RELATED, MATRIX-ASSOCIATED, ACTIN-DEPENDENT REGULATOR OF CHROMATIN,; 603714 SINE OCULIS HOMEO BOX, DROSOPHILA, HOMOLOG OF, 3; SIX3; 603813 HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE; ARH; 603896 LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER; VWM; 604302 RHEUMATOID ARTHRITIS, SYSTEMIC JUVENILE; 604595 CHOLESTEROL-LOWERING FACTOR; 605747 ARH GENE; ARH; 606057 RAP GUANINE NUCLEOTIDE EXHANGE FACTOR 3; RAPGEF3; 606829 FRDA GENE; FRDA; 607709 TIGHT JUNCTION PROTEIN 2; TJP2; 607748 HYPERCHOLANEMIA, FAMILIAL; FHCA; 608519 F-BOX ONLY PROTEIN 16; FBXO16; Clinical Synopsis for 151210 THANATOPHORIC DYSPLASIA VARIANTS; Clinical Synopsis for 156810 MICROGASTRIA-LIMB REDUCTION DEFECTS ASSOCIATION; MLRD; Clinical Synopsis for 222600 DIASTROPHIC DYSPLASIA; Clinical Synopsis for 270685 SPASTIC PARAPLEGIA 17; SPG17; Clinical Synopsis for 600794 SPINAL MUSCULAR ATROPHY, DISTAL, TYPE V; DSMAV

March 10, 2004
New Entries:: 608519 F-BOX ONLY PROTEIN 16; FBXO16
Changed Entries:: 116900 CDC28 PROTEIN KINASE 1B; CKS1B; 140571 HEAT-SHOCK 90-KD PROTEIN 1, ALPHA; HSPCA; 147760 INTERLEUKIN 1-ALPHA; IL1A; 162010 NERVE GROWTH FACTOR RECEPTOR; NGFR; 162030 NERVE GROWTH FACTOR, BETA SUBUNIT; NGFB; 191110 TUBULIN, ALPHA-1; TUBA1; 191130 TUBULIN, BETA; TUBB; 201475 ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF; 270960 AZOOSPERMIA DUE TO PERTURBATIONS OF MEIOSIS; 311040 ELK1, MEMBER OF ETS ONCOGENE FAMILY; ELK1; 600150 POTASSIUM CHANNEL, CALCIUM-ACTIVATED, LARGE CONDUCTANCE, SUBFAMILY; 600185 BREAST CANCER 2 GENE; BRCA2; 600589 SERUM RESPONSE FACTOR; SRF; 601203 INTERLEUKIN 1 RECEPTOR-LIKE 1; IL1RL1; 601436 S-PHASE KINASE-ASSOCIATED PROTEIN 2; SKP2; 602458 SORTILIN; SORT1; 603258 INHIBITOR OF KAPPA LIGHT CHAIN GENE ENHANCER IN B CELLS, KINASE OF,; 603951 POTASSIUM CHANNEL, CALCIUM-ACTIVATED, LARGE CONDUCTANCE, SUBFAMILY; 604759 SYNAPTONEMAL COMPLEX PROTEIN 3; SYCP3; 604808 FIBRONECTIN-LIKE DOMAIN-CONTAINING LEUCINE-RICH TRANSMEMBRANE PROTEIN; 606127 MYOCARDIN; MYOCD

March 9, 2004
New Entries:: 608455 GLYCOGEN PHOSPHORYLASE, MUSCLE; PYGM; 608514 ANDROGEN-INDUCED GENE 1; AIG1; 608517 MYOPALLADIN; MYPN
Changed Entries:: 102200 ACROMEGALY; 105400 AMYOTROPHIC LATERAL SCLEROSIS 1; ALS1; 112210 MEMBRANE-SPANNING 4 DOMAINS, SUBFAMILY A, MEMBER 1; MS4A1; 121013 GAP JUNCTION PROTEIN, ALPHA-5; GJA5; 123870 CYTOCHROME c OXIDASE, SUBUNIT VIII; COX8; 131100 MULTIPLE ENDOCRINE NEOPLASIA, TYPE I; MEN1; 134660 GLUTATHIONE S-TRANSFERASE, PI; GSTP1; 134690 FAU GENE; FAU; 136350 FIBROBLAST GROWTH FACTOR RECEPTOR 1; FGFR1; 138247 GLUTAMATE RECEPTOR, IONOTROPIC, AMPA 2; GRIA2; 138550 GLYCOGEN PHOSPHORYLASE, BRAIN TYPE; PYGB; 151430 B-CELL CLL/LYMPHOMA 2; BCL2; 153460 MOVED TO 232600; 153700 MACULAR DYSTROPHY, VITELLIFORM; VMD; 165110 S13 AVIAN ERYTHROBLASTOSIS ONCOGENE HOMOLOG; SEA; 167040 OXYSTEROL-BINDING PROTEIN; OSBP; 168000 PARAGANGLIOMAS, FAMILIAL NONCHROMAFFIN, 1; PGL1; 180721 ROD OUTER SEGMENT PROTEIN 1; ROM1; 182175 SIGNAL RECOGNITION PARTICLE, 19-KD; SRP19; 188840 TITIN; TTN; 209900 BARDET-BIEDL SYNDROME; BBS; 232600 GLYCOGEN STORAGE DISEASE V; 232700 GLYCOGEN STORAGE DISEASE VI; 300390 CHM GENE; CHM; 600707 SIGNAL RECOGNITION PARTICLE, 9-KD; SRP9; 600708 SIGNAL RECOGNITION PARTICLE, 14-KD; SRP14; 601650 PARAGANGLIOMAS, FAMILIAL NONCHROMAFFIN, 2; PGL2; 601671 REQUIEM, APOPTOSIS RESPONSE ZINC FINGER GENE; REQ; 602122 SIGNAL RECOGNITION PARTICLE, 72-KD; SRP72; 603166 MITOGEN-ACTIVATED PROTEIN KINASE KINASE KINASE KINASE 2; MAP4K2; 604407 LEUCINE ZIPPER/EF-HAND-CONTAINING TRANSMEMBRANE PROTEIN 1; LETM1; 604517 PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-GAMMA, COACTIVATOR 1; PPARGC1; 604857 SIGNAL RECOGNITION PARTICLE, 54-KD; SRP54; 604858 SIGNAL RECOGNITION PARTICLE, 68-KD; SRP68; 605577 RAS GUANYL NUCLEOTIDE-RELEASING PROTEIN 2; RASGRP2; 606158 BSCL2 GENE; BSCL2; 606278 F-BOX AND WD40 DOMAIN PROTEIN 7; FBXW7; 608092 PALLADIN, MOUSE, HOMOLOG OF; 608277 B-CELL RAG-ASSOCIATED GENE

March 8, 2004
New Entries:: 300482 GRB2-ASSOCIATED BINDING PROTEIN 3; GAB3; 300483 FAMILY WITH SEQUENCE SIMILARITY 11, MEMBER A; FAM11A; 608513 H1RNA
Changed Entries:: 106165 ANGIOTENSIN RECEPTOR 1; AGTR1; 143500 GILBERT SYNDROME; 157660 MITOCHONDRIAL RNA-PROCESSING ENDORIBONUCLEASE, RNA COMPONENT OF; RMRP; 175100 ADENOMATOUS POLYPOSIS OF THE COLON; APC; 191740 UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1; 235400 HEMOLYTIC-UREMIC SYNDROME; HUS; 274150 THROMBOTIC THROMBOCYTOPENIC PURPURA, FAMILIAL; TTP; 276850 MOVED TO 274150; 300031 FRAGILE SITE F, X-LINKED; FRAXF; 300100 ADRENOLEUKODYSTROPHY; ALD; 600262 PROSTAGLANDIN-ENDOPEROXIDE SYNTHASE 2; PTGS2; 600490 NUCLEAR FACTOR OF ACTIVATED T CELLS, CYTOPLASMIC, CALCINEURIN-DEPENDENT; 601256 MOVED TO 106165; 603570 VANIN 1; VNN1; 603936 GROWTH/DIFFERENTIATION FACTOR 11; GDF11; 604134 A DISINTEGRIN-LIKE AND METALLOPROTEASE WITH THROMBOSPONDIN TYPE 1; 605380 FIBROBLAST GROWTH FACTOR 23; FGF23; 605735 PROSTAGLANDIN-ENDOPEROXIDE SYNTHASE DEFICIENCY; 605851 ISOPRENYLCYSTEINE CARBOXYLMETHYLTRANSFERASE; ICMT

March 5, 2004
New Entries:: 608509 ALOPECIA UNIVERSALIS CONGENITA, XY GONADAL DYSGENESIS, AND LARYNGOMALACIA; 608510 EWS/FLI1-ACTIVATED TRANSCRIPT 2; 608511 PHYTANOYL-CoA HYDROXYLASE-INTERACTING PROTEIN; PHYHIP
Changed Entries:: 121020 MOVED TO 160120; 122480 MOVED TO 166740; 123580 CRYSTALLIN, ALPHA-A; CRYAA; 123590 CRYSTALLIN, ALPHA-B; CRYAB; 123620 CRYSTALLIN, BETA-B2; CRYBB2; 123680 CRYSTALLIN, GAMMA-C; CRYGC; 130650 BECKWITH-WIEDEMANN SYNDROME; BWS; 138140 SOLUTE CARRIER FAMILY 2 (FACILITATED GLUCOSE TRANSPORTER), MEMBER; 146150 MOVED TO 300337; 147460 SUPEROXIDE DISMUTASE 2; SOD2; 147686 MOVED TO 300119; 151385 RUNT-RELATED TRANSCRIPTION FACTOR 1; RUNX1; 160100 MOVED TO 160120; 162375 MOVED TO 118200; 168350 MOVED TO 168300; 176270 PRADER-WILLI SYNDROME; PWS; 176960 PROTEIN KINASE C, ALPHA; PRKCA; 180850 MOVED TO 180849; 188395 MOVED TO 300159; 191344 MOVED TO 191321; 222300 WOLFRAM SYNDROME; 224570 MOVED TO 500001; 257250 MOVED TO 257220; 270680 MOVED TO 270750; 270750 SPASTIC PARAPLEGIA 23; SPG23; 300449 MOVED TO 300448; 312400 MOVED TO 604278; 312890 MOVED TO 312920; 313100 MOVED TO 605041; 314555 MOVED TO 604492; 535000 LEBER OPTIC ATROPHY; 555000 MOVED TO 607313; 600037 ORTHODENTICLE, DROSOPHILA, HOMOLOG OF, 2; OTX2; 600083 MOVED TO 300144; 600094 MOVED TO 300095; 600177 MOVED TO 300102; 600180 MOVED TO 108355; 600409 PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-DELTA; PPARD; 600539 MOVED TO 300094; 600545 MOVED TO 300240; 600569 MOVED TO 300103; 600612 MOVED TO 300101; 600619 MOVED TO 300097; 600622 MOVED TO 300069; 600689 MOVED TO 300096; 600891 MOVED TO 300098; 600893 MOVED TO 300099; 601108 MOVED TO 300283; 601231 FKBP12-RAPAMYCIN COMPLEX-ASSOCIATED PROTEIN 1; FRAP1; 601343 MOVED TO 276821; 601377 MOVED TO 218340; 601765 MOVED TO 601542; 601965 ENDOTHELIAL DIFFERENTIATION GENE 3; EDG3; 602057 MOVED TO 300256; 602195 HEAT-SHOCK 27-KD PROTEIN 1; HSPB1; 602225 CONE-ROD HOMEO BOX-CONTAINING GENE; CRX; 602299 MOVED TO 300284; 602328 MOVED TO 300118; 602698 NUCLEAR FACTOR OF ACTIVATED T CELLS, CYTOPLASMIC, CALCINEURIN-DEPENDENT; 602699 NUCLEAR FACTOR OF ACTIVATED T CELLS, CYTOPLASMIC, CALCINEURIN-DEPENDENT; 603077 MOVED TO 300157; 603087 MOVED TO 110600; 603374 MOVED TO 300186; 603492 SIGNALING LYMPHOCYTE ACTIVATION MOLECULE; SLAM; 603570 VANIN 1; VNN1; 603700 ARACHIDONATE 5-LIPOXYGENASE-ACTIVATING PROTEIN; ALOX5AP; 603723 MOVED TO 300248; 603789 MOVED TO 300237; 603850 DYNAMIN 1-LIKE; DNM1L; 603938 MOVED TO 300205; 604006 REMOVED FROM DATABASE; 604007 XYLAN 1,4-BETA-XYLOSIDASE 1; XBX1; 604008 PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, ZETA-2; PTPRZ2; 604513 CD84 ANTIGEN; CD84; 604928 WFS GENE 2; WFS2; 605050 MOVED TO 142750; 605111 ENDOTHELIAL DIFFERENTIATION GENE 5; EDG5; 605851 ISOPRENYLCYSTEINE CARBOXYLMETHYLTRANSFERASE; ICMT; 605887 MOVED TO 300357; 605985 MOVED TO 300408; 606201 WOLFRAMIN; WFS1; 606761 MALONYL-CoA DECARBOXYLASE; MLYCD; 607148 MOVED TO 300417; 607261 EVC2 GENE; EVC2; 607480 MOVED TO 300434; 608503 POLY(rC)-BINDING PROTEIN 4; PCBP4; 608510 EWS/FLI1-ACTIVATED TRANSCRIPT 2; Clinical Synopsis for 235400 HEMOLYTIC-UREMIC SYNDROME; HUS; Clinical Synopsis for 270750 SPASTIC PARAPLEGIA 23; SPG23

March 4, 2004
Changed Entries:: 123580 CRYSTALLIN, ALPHA-A; CRYAA; 123590 CRYSTALLIN, ALPHA-B; CRYAB; 139260 GUANINE DEAMINASE; GDA; 150330 LAMIN A/C; LMNA; 176801 PROSAPOSIN; PSAP; 188410 THYMOCYTE ANTIGEN CD1D; CD1D; 232200 GLYCOGEN STORAGE DISEASE I; 300100 ADRENOLEUKODYSTROPHY; ALD; 300200 ADRENAL HYPOPLASIA, CONGENITAL; AHC; 300398 B-CELL RECEPTOR-ASSOCIATED PROTEIN 31; BCAP31; 306700 HEMOPHILIA A; 600758 PROTEIN-TYROSINE KINASE, CYTOPLASMIC; PTK2; 600759 PRESENILIN 2; PSEN2; 602671 GLUCOSE-6-PHOSPHATE TRANSPORTER 1; G6PT1; 605747 ARH GENE; ARH; 608481 SOLUTE CARRIER FAMILY 26 (SULFATE TRANSPORTER), MEMBER 9; SLC26A9

March 3, 2004
New Entries:: 608506 MITOFUSIN 1; MFN1; 608507 MITOFUSIN 2; MFN2
Changed Entries:: 118945 CILIARY NEUROTROPHIC FACTOR; CNTF; 120435 COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 1; 121013 GAP JUNCTION PROTEIN, ALPHA-5; GJA5; 134920 FIBROBLAST GROWTH FACTOR 2; FGF2; 140550 HEAT-SHOCK 70-KD PROTEIN 1A; HSPA1A; 140571 HEAT-SHOCK 90-KD PROTEIN 1, ALPHA; HSPCA; 147569 INTERFERON, GAMMA, RECEPTOR 2; IFNGR2; 147570 INTERFERON, GAMMA; IFNG; 147679 INTERLEUKIN 1 RECEPTOR ANTAGONIST; IL1RN; 152427 POTASSIUM CHANNEL, VOLTAGE-GATED, SUBFAMILY H, MEMBER 2; KCNH2; 162200 NEUROFIBROMATOSIS, TYPE I; NF1; 180300 RHEUMATOID ARTHRITIS; RA; 235000 HEMIHYPERTROPHY; 248300 MAL DE MELEDA; 252940 MUCOPOLYSACCHARIDOSIS TYPE IIID; 274150 THROMBOTIC THROMBOCYTOPENIC PURPURA, FAMILIAL; 309550 FRAGILE SITE MENTAL RETARDATION 1 GENE; FMR1; 600826 CHONDROITIN SULFATE PROTEOGLYCAN 3; CSPG3; 602983 POTASSIUM CHANNEL, CALCIUM-ACTIVATED, INTERMEDIATE/SMALL CONDUCTANCE,; 603031 TOLL-LIKE RECEPTOR 5; TLR5; 603850 DYNAMIN 1-LIKE; DNM1L; 604439 GRB2-ASSOCIATED BINDING PROTEIN 1; GAB1; 604705 MER TYROSINE KINASE PROTOONCOGENE; MERTK; 605474 TOLL-LIKE RECEPTOR 9; TLR9; 605679 INTERLEUKIN 26; IL26; 606119 SECRETED LY6/UPAR-RELATED PROTEIN 1; 607664 N-ACETYLGLUCOSAMINE-6-SULFATASE; GNS

March 2, 2004
New Entries:: 608502 POLY(rC)-BINDING PROTEIN 3; PCBP3; 608503 POLY(rC)-BINDING PROTEIN 4; PCBP4; 608504 RHO GUANINE NUCLEOTIDE EXCHANGE FACTOR 15; ARHGEF15
Changed Entries:: 100500 MOVED TO 200150; 107730 APOLIPOPROTEIN B; APOB; 109270 SOLUTE CARRIER FAMILY 4 (ANION EXCHANGER), MEMBER 1; SLC4A1; 109535 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 5; TNFRSF5; 114206 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, L TYPE, ALPHA-1D SUBUNIT; CACNA1D; 118750 CHOREOATHETOSIS, FAMILIAL INVERTED; 118910 CHROMOGRANIN A; CHGA; 140550 HEAT-SHOCK 70-KD PROTEIN 1A; HSPA1A; 142680 PERIODIC FEVER, FAMILIAL, AUTOSOMAL DOMINANT; 143890 HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT; 161200 NAIL-PATELLA SYNDROME; NPS; 166490 SECRETED PHOSPHOPROTEIN 1; SPP1; 200150 CHOREOACANTHOCYTOSIS; CHAC; 218030 CORTISOL 11-BETA-KETOREDUCTASE DEFICIENCY; 231670 GLUTARICACIDEMIA I; 261100 MEGALOBLASTIC ANEMIA 1; MGA1; 263200 POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE; ARPKD; 314850 KELL BLOOD GROUP PRECURSOR; XK; 516005 COMPLEX I, SUBUNIT ND5; MTND5; 600046 ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 1; ABCA1; 600749 CCAAT/ENHANCER-BINDING PROTEIN, EPSILON; CEBPE; 601209 POLY(rC)-BINDING PROTEIN 1; PCBP1; 601210 POLY(rC)-BINDING PROTEIN 2; PCBP2; 601877 ENDOMETRIAL BLEEDING-ASSOCIATED FACTOR; EBAF; 603037 LEFT-RIGHT DETERMINATION, FACTOR B; LEFTB; 605978 VACUOLAR PROTEIN SORTING 13A; VPS13A; 605999 LECTIN, C-TYPE, SUPERFAMILY MEMBER 14; CLECSF14; 606438 HUNTINGTON DISEASE-LIKE 2; HDL2; 606661 MELANOMA, UVEAL, SUSCEPTIBILITY TO, 2; Clinical Synopsis for 100500 MOVED TO 200150; Mini-MIM for 143890 HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT; Clinical Synopsis for 153460 MCARDLE SYNDROME, AUTOSOMAL DOMINANT

March 1, 2004
New Entries:: 608500 PRICKLE-LIKE 1; PRICKLE1; 608501 PRICKLE-LIKE 2; PRICKLE2
Changed Entries:: 121013 GAP JUNCTION PROTEIN, ALPHA-5; GJA5; 123812 cAMP RESPONSE ELEMENT MODULATOR; CREM; 123900 VILLIN 2; VIL2; 124015 CYTOCHROME P450 REDUCTASE; POR; 164831 LEUKEMIA VIRAL BMI-1 ONCOGENE, MOUSE, HOMOLOG OF; BMI1; 179410 RADIXIN; RDX; 182700 MOVED TO 270685; 207410 ANTLEY-BIXLER SYNDROME; ABS; 232220 GLYCOGEN STORAGE DISEASE Ib; 270685 SPASTIC PARAPLEGIA 17; SPG17; 300004 CORPUS CALLOSUM, AGENESIS OF, WITH ABNORMAL GENITALIA; 300215 LISSENCEPHALY, X-LINKED, WITH AMBIGUOUS GENITALIA; XLAG; 300382 ARISTALESS-RELATED HOMEOBOX, X-LINKED; ARX; 301900 BORJESON-FORSSMAN-LEHMANN SYNDROME; BFLS; 309845 MOESIN; MSN; 600075 TATA BOX-BINDING PROTEIN; TBP; 600246 ELK4, ETS-DOMAIN PROTEIN; ELK4; 600346 ZINC FINGER PROTEIN 144; ZNF144; 600489 NUCLEAR FACTOR OF ACTIVATED T CELLS, CYTOPLASMIC, CALCINEURIN-DEPENDENT; 600490 NUCLEAR FACTOR OF ACTIVATED T CELLS, CYTOPLASMIC, CALCINEURIN-DEPENDENT; 600758 PROTEIN-TYROSINE KINASE, CYTOPLASMIC; PTK2; 600794 SPINAL MUSCULAR ATROPHY, DISTAL, TYPE V; DSMAV; 601489 INSULIN-LIKE GROWTH FACTOR-BINDING PROTEIN, ACID-LABILE SUBUNIT; IGFALS; 602698 NUCLEAR FACTOR OF ACTIVATED T CELLS, CYTOPLASMIC, CALCINEURIN-DEPENDENT; 602937 CBP/p300-INTERACTING TRANSACTIVATOR, WITH GLU/ASP-RICH C-TERMINAL; 603215 N-ETHYLMALEIMIDE-SENSITIVE FACTOR ATTACHMENT PROTEIN, ALPHA; NAPA; 603680 SPINOCEREBELLAR ATAXIA 8; SCA8; 604437 SOLUTE CARRIER FAMILY 38 (AMINO ACID TRANSPORTER), MEMBER 3; SLC38A3; 606002 SPINOCEREBELLAR ATAXIA, RECESSIVE, NON-FRIEDREICH TYPE 1; 606063 EXONUCLEASE 1, S. CEREVISIAE, HOMOLOG OF; EXO1; 606202 MEMBRANE-ASSOCIATED TRANSPORTER PROTEIN; MATP; 606574 OCULOCUTANEOUS ALBINISM, TYPE IV; OCA4; 606945 LOW DENSITY LIPOPROTEIN RECEPTOR; LDLR; 607542 POTASSIUM CHANNEL, VOLTAGE-GATED, KQT-LIKE SUBFAMILY, MEMBER 1; KCNQ1; 607566 EPM2A GENE; EPM2A; 608065 SOLUTE CARRIER FAMILY 38 (AMINO ACID TRANSPORTER), MEMBER 4; SLC38A4; 608446 MYOCARDIAL INFARCTION, EARLY-ONSET, SUSCEPTIBILITY TO; 608465 SENATAXIN; 608497 OLFACTORY RECEPTOR, FAMILY 2, SUBFAMILY F, MEMBER 1; OR2F1

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