PubMed Nucleotide Protein Genome Structure PopSet Taxonomy OMIM

OMIM Update List for February, 2009

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February 27, 2009

New Entries:

612377 COMM DOMAIN-CONTAINING PROTEIN 6; COMMD6

Changed Entries:

103000 ADENYLATE KINASE 1; AK1
104300 ALZHEIMER DISEASE; AD
107580 TRANSCRIPTION FACTOR AP2-ALPHA; TFAP2A
113620 BRANCHIOOCULOFACIAL SYNDROME; BOFS
146550 HYPOTRICHOSIS, MARIE UNNA TYPE
176100 PORPHYRIA CUTANEA TARDA
176270 PRADER-WILLI SYNDROME; PWS
177900 PSORIASIS SUSCEPTIBILITY 1; PSORS1
178500 PULMONARY FIBROSIS, IDIOPATHIC
178642 SURFACTANT, PULMONARY-ASSOCIATED PROTEIN A2; SFTPA2
190000 TRANSFERRIN; TF
201910 ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY
205400 TANGIER DISEASE; TGD
230000 FUCOSIDOSIS
230200 GALACTOKINASE DEFICIENCY
230400 GALACTOSEMIA
235400 HEMOLYTIC UREMIC SYNDROME, ATYPICAL
277380 METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE
300756 ALZHEIMER DISEASE 16; AD16
600192 SYNOVIAL SARCOMA TRANSLOCATION, CHROMOSOME 18; SS18
601181 RAN-BINDING PROTEIN 2; RANBP2
602544 PARKIN; PARK2
603090 UBIQUITIN CARBOXYL-TERMINAL ESTERASE L3; UCHL3
603188 BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 8; BMIQ8
604362 LIM DOMAIN ONLY 7; LMO7
606609 3-PRIME @REPAIR EXONUCLEASE 1; TREX1
606641 BODY MASS INDEX; BMI
607238 COMM DOMAIN-CONTAINING PROTEIN 1; COMMD1
607714 TNFAIP3-INTERACTING PROTEIN 1; TNIP1
607749 CELL DIVISION CYCLE-ASSOCIATED PROTEIN 3; CDCA3
607920 MOVED TO 159001
607955 STERILE ALPHA MOTIFS- AND SH3 DOMAIN-CONTAINING PROTEIN 1; SASH1
608033 ENCEPHALOPATHY, ACUTE NECROTIZING 1, SUSCEPTIBILITY TO; ANE1
608216 COMM DOMAIN-CONTAINING PROTEIN 5; COMMD5
608868 LEUCINE-RICH REPEATS- AND IMMUNOGLOBULIN-LIKE DOMAINS-CONTAINING PROTEIN
608869 LEUCINE-RICH REPEATS- AND IMMUNOGLOBULIN-LIKE DOMAINS-CONTAINING PROTEIN
608870 LEUCINE-RICH REPEATS- AND IMMUNOGLOBULIN-LIKE DOMAINS-CONTAINING PROTEIN
609937 CELL DIVISION CYCLE-ASSOCIATED PROTEIN 7; CDCA7
610113 ADAMTS-LIKE 4; ADAMTSL4
610140 HEART-HAND SYNDROME, SLOVENIAN TYPE
611772 NUF2, S. CEREVISIAE, HOMOLOG OF; NUF2
612299 COMM DOMAIN-CONTAINING PROTEIN 9; COMMD9
612377 COMM DOMAIN-CONTAINING PROTEIN 6; COMMD6
612599 PSORIASIS SUSCEPTIBILITY 11; PSORS11
612635 MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 7; MVCD7

February 26, 2009

New Entries:

612641 ANKYRIN 1; ANK1

Changed Entries:

104150 ALPHA-FETOPROTEIN; AFP
109270 SOLUTE CARRIER FAMILY 4 (ANION EXCHANGER), MEMBER 1; SLC4A1
125305 ERYTHROCYTE MEMBRANE PROTEIN BAND 4.9; EPB49
142200 HEMOGLOBIN, GAMMA A; HBG1
147100 IgG HEAVY CHAIN LOCUS; IGHG1
164008 NUCLEAR FACTOR OF KAPPA LIGHT CHAIN GENE ENHANCER IN B CELLS INHIBITOR,
168000 PARAGANGLIOMAS 1; PGL1
172430 ENOLASE 1; ENO1
173900 POLYCYSTIC KIDNEYS
174400 POLYDACTYLY, PREAXIAL I
177070 PROTEIN 4.2, ERYTHROCYTIC; EPB42
179740 RELAXIN 2; RLN2
180860 SILVER-RUSSELL SYNDROME; SRS
181590 SCL/TAL1-INTERRUPTING LOCUS; STIL
182860 SPECTRIN, ALPHA, ERYTHROCYTIC 1; SPTA1
182870 SPECTRIN, BETA, ERYTHROCYTIC; SPTB
182900 SPHEROCYTOSIS, TYPE 1; SPH1
194190 WOLF-HIRSCHHORN SYNDROME; WHS
219000 FRASER SYNDROME
219050 CRYPTORCHIDISM, UNILATERAL OR BILATERAL
219721 CYSTIC FIBROSIS WITH HELICOBACTER PYLORI GASTRITIS, MEGALOBLASTIC
221770 POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY;
223340 DK PHOCOMELIA SYNDROME
224100 ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE II; CDAN2
224500 DYSTONIA 2, TORSION, AUTOSOMAL RECESSIVE; DYT2
226200 ENTEROKINASE DEFICIENCY
226700 EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE
227500 FACTOR VII DEFICIENCY
227650 FANCONI ANEMIA; FA
228000 FARBER LIPOGRANULOMATOSIS
228100 FATTY METAMORPHOSIS OF VISCERA
228960 HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY
234700 HEART BLOCK, CONGENITAL
235200 HEMOCHROMATOSIS; HFE
235400 HEMOLYTIC UREMIC SYNDROME, ATYPICAL; aHUS
236000 HODGKIN LYMPHOMA
236130 HOMOCARNOSINOSIS
236200 HOMOCYSTINURIA
270970 SPHEROCYTOSIS, TYPE 3; SPH3
277700 WERNER SYNDROME; WRN
600275 NOTCH, DROSOPHILA, HOMOLOG OF, 2; NOTCH2
600465 ANKYRIN 3; ANK3
601313 POLYCYSTIC KIDNEY DISEASE 1; PKD1
601702 RHO-ASSOCIATED COILED-COIL-CONTAINING PROTEIN KINASE 1; ROCK1
601810 DNA REPLICATION HELICASE 2, YEAST, HOMOLOG OF; DNA2
602878 SOLUTE CARRIER FAMILY 30 (ZINC TRANSPORTER), MEMBER 3; SLC30A3
602968 BREAST CARCINOMA AMPLIFIED SEQUENCE 1; BCAS1
604759 SYNAPTONEMAL COMPLEX PROTEIN 3; SYCP3
604775 TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY A, MEMBER 1;
605124 SERINE PROTEASE INHIBITOR, KUNITZ-TYPE, 2; SPINT2
605533 NEUREGULIN 3; NRG3
605797 ANKYRIN REPEAT, SAM, AND BASIC LEUCINE ZIPPER DOMAIN-CONTAINING 1;
608078 SCHIZOPHRENIA 11
608143 1-@ACYLGLYCEROL-3-PHOSPHATE O-ACYLTRANSFERASE 6; AGPAT6
608994 ANKYRIN REPEAT AND STERILE ALPHA MOTIF DOMAINS-CONTAINING PROTEIN
609803 ANKYRIN AND ARMADILLO REPEATS-CONTAINING PROTEIN; ANKAR
610099 MYOPATHY, DISTAL 3; MPD3
610583 ANKYRIN REPEAT DOMAIN-CONTAINING PROTEIN 6; ANKRD6
610702 HEAT-SHOCK 70-KD PROTEIN 12B; HSPA12B

February 25, 2009

New Entries:

612632 USHER SYNDROME, TYPE IH; USH1H
612635 MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 7; MVCD7

Changed Entries:

102582 SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 3; STAT3
104300 ALZHEIMER DISEASE; AD
106280 ANKYLOGLOSSIA
120436 MutL, E. COLI, HOMOLOG OF, 1; MLH1
126449 DOPAMINE RECEPTOR D1; DRD1
142983 MUSCLE SEGMENT HOMEOBOX, DROSOPHILA, HOMOLOG OF, 1; MSX1
171060 ATP-BINDING CASSETTE, SUBFAMILY B, MEMBER 4; ABCB4
172860 PIGMENT EPITHELIUM-DERIVED FACTOR; PEDF
176200 PORPHYRIA VARIEGATA
176290 DELTA, DROSOPHILA, HOMOLOG-LIKE 1; DLK1
190000 TRANSFERRIN; TF
194190 WOLF-HIRSCHHORN SYNDROME; WHS
235200 HEMOCHROMATOSIS; HFE
256600 NEUROAXONAL DYSTROPHY, INFANTILE; INAD1
276900 USHER SYNDROME, TYPE I
277600 WEILL-MARCHESANI SYNDROME, AUTOSOMAL RECESSIVE
600241 G PROTEIN-COUPLED RECEPTOR 3; GPR3
601544 DEAFNESS, AUTOSOMAL DOMINANT 3; DFNA3
601902 ORIGIN RECOGNITION COMPLEX, SUBUNIT 1, S. CEREVISIAE, HOMOLOG OF;
601978 SIGMA NONOPIOID INTRACELLULAR RECEPTOR 1; SIGMAR1
602625 MEMBRANE-ASSOCIATED GUANYLATE KINASE, WW AND PDZ DOMAINS-CONTAINING,
602682 BRAIN-SPECIFIC ANGIOGENESIS INHIBITOR 1; BAI1
603029 TOLL-LIKE RECEPTOR 3; TLR3
603604 PHOSPHOLIPASE A2, GROUP VI; PLA2G6
603933 MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 1; MVCD1
604297 SYNAPTOJANIN 1; SYNJ1
604943 SOLUTE CARRIER FAMILY 26, MEMBER 5; SLC26A5
606420 ENGULFMENT AND CELL MOTILITY GENE 1; ELMO1
608990 A DISINTEGRIN-LIKE AND METALLOPROTEINASE WITH THROMBOSPONDIN TYPE
609309 MutS, E. COLI, HOMOLOG OF, 2; MSH2
609439 DEAFNESS, AUTOSOMAL RECESSIVE 48; DFNB48
609644 FANCM GENE; FANCM
610217 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2; NBIA2
610812 HYDROCEPHALUS-INDUCING, MOUSE, HOMOLOG OF; HYDIN
610813 HYDROCEPHALUS-INDUCING, MOUSE, HOMOLOG OF, 2; HYDIN2
610884 FANCONI ANEMIA-ASSOCIATED PROTEIN, 24-KD
611140 TELOMERE MAINTENANCE 2, S. CEREVISIAE, HOMOLOG OF; TELO2
612474 CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB
612475 CHROMOSOME 1q21.1 DUPLICATION SYNDROME
612635 MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 7; MVCD7

February 24, 2009

New Entries:

300756 ALZHEIMER DISEASE 16; AD16
612599 PSORIASIS SUSCEPTIBILITY 11; PSORS11
612640 CHROMOSOME 10 OPEN READING FRAME 27; C10ORF27

Changed Entries:

104250 ALPHA-2C-ADRENERGIC RECEPTOR; ADRA2C
104300 ALZHEIMER DISEASE; AD
109630 BETA-1-ADRENERGIC RECEPTOR; ADRB1
115200 CARDIOMYOPATHY, DILATED, 1A; CMD1A
118511 CHOLINERGIC RECEPTOR, NEURONAL NICOTINIC, ALPHA POLYPEPTIDE 7; CHRNA7
125853 DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM
150330 LAMIN A/C; LMNA
159001 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B; LGMD1B
159460 MYELIN-ASSOCIATED GLYCOPROTEIN; MAG
161561 INTERLEUKIN 12B; IL12B
168605 PERRY SYNDROME
177900 PSORIASIS SUSCEPTIBILITY 1; PSORS1
179617 RAD51, S. CEREVISIAE, HOMOLOG OF; RAD51
181270 SCALP-EAR-NIPPLE SYNDROME
184420 FARNESYLDIPHOSPHATE FARNESYLTRANSFERASE 1; FDFT1
188550 THYROID CARCINOMA, PAPILLARY
190000 TRANSFERRIN; TF
210250 SITOSTEROLEMIA
212160 CARNITINE DEFICIENCY, MYOPATHIC
212200 CARNOSINEMIA
212750 CELIAC DISEASE; CD
214700 DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL
214800 CHARGE SYNDROME
215250 CHONDROITIN-6-SULFATURIA, DEFECTIVE CELLULAR IMMUNITY, NEPHROTIC SYNDROME
215600 CIRRHOSIS, FAMILIAL
215700 CITRULLINEMIA, CLASSIC
216400 COCKAYNE SYNDROME, TYPE A; CSA
218030 CORTISOL 11-BETA-KETOREDUCTASE DEFICIENCY
218700 HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2; CHNG2
218800 CRIGLER-NAJJAR SYNDROME
220100 CYSTINURIA
222300 WOLFRAM SYNDROME 1; WFS1
223000 LACTASE DEFICIENCY, CONGENITAL
223100 LACTASE PERSISTENCE
224100 ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE II; CDAN2
231070 GERODERMA OSTEODYSPLASTICUM; GO
235200 HEMOCHROMATOSIS; HFE
253300 SPINAL MUSCULAR ATROPHY, TYPE I; SMA1
259600 TORG-WINCHESTER SYNDROME
275000 GRAVES DISEASE
277950 MOVED TO 259600
300246 PROTOCADHERIN 11, X-LINKED; PCDH11X
300401 PROTEOLIPID PROTEIN 1; PLP1
300633 HYPOSPADIAS 1, X-LINKED; HYSP1
300757 RP2 GENE; RP2
300758 HYPOSPADIAS 2, X-LINKED; HYSP2
314670 X INACTIVATION-SPECIFIC TRANSCRIPT; XIST
600354 SURVIVAL OF MOTOR NEURON 1, TELOMERIC; SMN1
600378 INNER MEMBRANE PROTEIN, MITOCHONDRIAL; IMMT
600669 EPILEPSY, IDIOPATHIC GENERALIZED; EIG
600958 MYOSIN-BINDING PROTEIN C, CARDIAC; MYBPC3
601143 DYNACTIN 1; DCTN1
601627 SURVIVAL OF MOTOR NEURON 2, CENTROMERIC; SMN2
602048 RAS-RELATED C3 BOTULINUM TOXIN SUBSTRATE 1; RAC1
602315 MITOGEN-ACTIVATED PROTEIN KINASE KINASE 3; MAP2K3
602539 MITOGEN-ACTIVATED KINASE KINASE KINASE 3; MAP3K3
602625 BAI1-ASSOCIATED PROTEIN 1; BAIAP1
602692 GLIOMA PATHOGENESIS-RELATED PROTEIN 1; GLIPR1
602967 ZINC FINGER PROTEIN 217; ZNF217
602968 BREAST CARCINOMA AMPLIFIED SEQUENCE 1; BCAS1
603384 SYNAPTIC RAS-GTPase-ACTIVATING PROTEIN 1; SYNGAP1
603933 MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 1; MVCD1
603935 PSORIASIS SUSCEPTIBILITY 4; PSORS4
605156 MOVED TO 259600
605330 INTERLEUKIN 22; IL22
605364 PSORIASIS SUSCEPTIBILITY 6; PSORS6
605424 MASTERMIND-LIKE 1; MAML1
605606 PSORIASIS SUSCEPTIBILITY 7; PSORS7
605830 FIBROBLAST GROWTH FACTOR RECEPTOR-LIKE 1; FGFRL1
606665 OPSIN 4; OPN4
607379 NEUROFIBROMIN 2; NF2
607562 INTERLEUKIN 23 RECEPTOR; IL23R
607857 PSORIASIS SUSCEPTIBILITY 9; PSORS9
607920 MOVED TO 159001
607929 CCM2 GENE; CCM2
608330 PRECURSOR mRNA-PROCESSING FACTOR 19, S. CEREVISIAE, HOMOLOG OF; PRPF19
608581 RP1-LIKE PROTEIN 1; RP1L1
608651 CENTAURIN, GAMMA-2; CENTG2
609590 QUAKING, MOUSE, HOMOLOG OF; QKI
610155 DIABETES MELLITUS, INSULIN-DEPENDENT, 19; IDDM19
610566 MICRO RNA 146A; MIRN146A
610707 PSORIASIS SUSCEPTIBILITY 8; PSORS8
611549 SODIUM LEAK CHANNEL, NONSELECTIVE; NALCN
612001 CHROMOSOME 15q13.3 MICRODELETION SYNDROME
612410 PSORIASIS SUSCEPTIBILITY 10; PSORS10
612523 IQ MOTIF-CONTAINING PROTEIN H: IQCH
612568 SPIC TRANSCRIPTION FACTOR; SPIC
612571 LUNG CANCER SUSCEPTIBILITY 3; LNCR3
612586 ANEURYSM, INTRACRANIAL BERRY, 9
612587 ANEURYSM, INTRACRANIAL BERRY, 10
612589 COLORECTAL CANCER, SUSCEPTIBILITY TO, 8; CRCS8
612590 COLORECTAL CANCER, SUSCEPTIBILITY TO, 9; CRCS9
612591 COLORECTAL CANCER, SUSCEPTIBILITY TO, 10; CRCS10
612592 COLORECTAL CANCER, SUSCEPTIBILITY TO, 11; CRCS11
612593 LUNG CANCER SUSCEPTIBILITY 4; LNCR4
612594 MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 2; MS2
612595 MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 3; MS3
612596 MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 4; MS4
612609 LATE CORNIFIED ENVELOPE PROTEIN 2A; LCE2A
612610 LATE CORNIFIED ENVELOPE PROTEIN 2B; LCE2B
612611 LATE CORNIFIED ENVELOPE PROTEIN 2C; LCE2C
612612 LATE CORNIFIED ENVELOPE PROTEIN 2D; LCE2D
612613 LATE CORNIFIED ENVELOPE PROTEIN 3A; LCE3A
612614 LATE CORNIFIED ENVELOPE PROTEIN 3B; LCE3B
612615 LATE CORNIFIED ENVELOPE PROTEIN 3C; LCE3C
612616 LATE CORNIFIED ENVELOPE PROTEIN 3D; LCE3D
612617 LATE CORNIFIED ENVELOPE PROTEIN 3E; LCE3E
612618 LATE CORNIFIED ENVELOPE PROTEIN 4A; LCE4A
612619 LATE CORNIFIED ENVELOPE PROTEIN 5A; LCE5A
612620 RAS ASSOCIATION DOMAIN FAMILY, MEMBER 6; RASSF6
612621 MENTAL RETARDATION, AUTOSOMAL DOMINANT 5; MRD5
612622 DIABETES MELLITUS, INSULIN-DEPENDENT, 23; IDDM23
612623 MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 2; MVCD2
612624 MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 3; MVCD3
612625 LMBR1 DOMAIN-CONTAINING PROTEIN 1: LMBRD1
612629 ADIPONECTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 4; ADIPQTL4
612630 HAIR MORPHOLOGY 1; HRM1
612631 ADENYLATE KINASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO
612636 CHROMOSOME 2 OPEN READING FRAME 21; C2ORF21
Clinical Synopsis for 612474 CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB
Clinical Synopsis for 612475 CHROMOSOME 1q21.1 DUPLICATION SYNDROME

February 23, 2009

New Entries:

612633 MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 5; MVCD5
612634 MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 6; MVCD6
612636 CHROMOSOME 2 OPEN READING FRAME 21; C2ORF21
612638 NADH-DEHYDROGENASE 1 ALPHA SUBCOMPLEX, 11; NDUFA11
612639 INFLAMMATORY BOWEL DISEASE 26; IBD26

Changed Entries:

104770 AMYLOID P COMPONENT, SERUM; APCS
115197 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4; CMH4
146550 HYPOTRICHOSIS, MARIE UNNA TYPE
146790 Fc FRAGMENT OF IgG, LOW AFFINITY IIa, RECEPTOR FOR; FCGR2A
147460 SUPEROXIDE DISMUTASE 2; SOD2
150330 LAMIN A/C; LMNA
165500 OPTIC ATROPHY 1; OPA1
168820 PARAOXONASE 1; PON1
190000 TRANSFERRIN; TF
190080 V-MYC AVIAN MYELOCYTOMATOSIS VIRAL ONCOGENE HOMOLOG; MYC
194355 X BOX-BINDING PROTEIN 1; XBP1
200900 ACHONDROPLASIA, SO-CALLED, AND SEVERE COMBINED IMMUNODEFICIENCY
235200 HEMOCHROMATOSIS; HFE
242840 IMMUNODEFICIENCY WITH CLEFT LIP/PALATE, CATARACT, HYPOPIGMENTATION,
266600 INFLAMMATORY BOWEL DISEASE 1; IBD1
276903 MYOSIN VIIA; MYO7A
277380 METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE
300403 NADH-DEHYDROGENASE 1 BETA SUBCOMPLEX, 11; NDUFB11
300758 HYPOSPADIAS 2, X-LINKED; HYSP2
600849 NUCLEAR RECEPTOR COREPRESSOR 1; NCOR1
600958 MYOSIN-BINDING PROTEIN C, CARDIAC; MYBPC3
601665 OBESITY
602302 HAIRLESS, MOUSE, HOMOLOG OF; HR
602447 PARAOXONASE 2; PON2
602465 SPROUTY, DROSOPHILA, HOMOLOG OF, 1; SPRY1
603188 BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 8; BMIQ8
603933 MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 1; MVCD1
604033 ENDOPLASMIC RETICULUM-TO-NUCLEUS SIGNALING 1; ERN1
604180 RIBOSOMAL PROTEIN L24; RPL24
605166 HISTONE DEACETYLASE 3; HDAC3
605225 INFLAMMATORY BOWEL DISEASE 7; IBD7
606641 BODY MASS INDEX; BMI
610140 HEART-HAND SYNDROME, SLOVENIAN TYPE
611020 MICRO RNA 21; MIRN21
612460 BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 14; BMIQ14
612566 INFLAMMATORY BOWEL DISEASE 24; IBD24
612625 LMBR1 DOMAIN-CONTAINING PROTEIN 1: LMBRD1
Clinical Synopsis for 253300 SPINAL MUSCULAR ATROPHY, TYPE I; SMA1
Clinical Synopsis for 276903 MYOSIN VIIA; MYO7A

February 20, 2009

New Entries:

300758 HYPOSPADIAS 2, X-LINKED; HYSP2
612630 HAIR MORPHOLOGY 1; HRM1

Changed Entries:

113705 BREAST CANCER 1 GENE; BRCA1
114208 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, L TYPE, ALPHA-1S SUBUNIT; CACNA1S
116952 CELL DIVISION CYCLE 42; CDC42
124020 CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 19; CYP2C19
125890 DIARRHEA, GLUCOSE-STIMULATED SECRETORY, WITH COMMON VARIABLE IMMUNODEFICIENCY
133440 EUKARYOTIC TRANSLATION INITIATION FACTOR 4E; EIF4E
138945 GRANULIN PRECURSOR; GRN
139150 RAS p21 PROTEIN ACTIVATOR 1; RASA1
139310 GUANINE NUCLEOTIDE-BINDING PROTEIN, ALPHA-INHIBITING ACTIVITY POLYPEPTIDE
139450 HAIR MORPHOLOGY 2; HRM2
143055 CYCLIN T1; CCNT1
146450 HYPOSPADIAS 3, AUTOSOMAL; HYSP3
146840 IMMUNODEFICIENCY WITH DEFECTIVE LEUKOCYTE AND LYMPHOCYTE FUNCTION
152780 LUTEINIZING HORMONE, BETA POLYPEPTIDE; LHB
158900 FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1A; FSHMD1A
160900 DYSTROPHIA MYOTONICA 1
170400 HYPOKALEMIC PERIODIC PARALYSIS; HOKPP
222100 DIABETES MELLITUS, INSULIN-DEPENDENT; IDDM
242860 IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME
253300 SPINAL MUSCULAR ATROPHY, TYPE I; SMA1
259600 TORG-WINCHESTER SYNDROME
275000 GRAVES DISEASE
276300 MISMATCH REPAIR CANCER SYNDROME
300120 MASTERMIND-LIKE DOMAIN-CONTAINING PROTEIN 1; MAMLD1
300346 HIV-1 TAT STIMULATORY FACTOR 1; HTATSF1
300633 HYPOSPADIAS 1, X-LINKED; HYSP1
313700 ANDROGEN RECEPTOR; AR
600378 INNER MEMBRANE PROTEIN, MITOCHONDRIAL; IMMT
600819 FRAGILE X MENTAL RETARDATION, AUTOSOMAL HOMOLOG 1; FXR1
601500 SMOOTHENED, DROSOPHILA, HOMOLOG OF; SMOH
601675 TRICHOTHIODYSTROPHY, PHOTOSENSITIVE; TTDP
602322 TELOMERASE RNA COMPONENT; TERC
602506 MOVED TO 143055
602529 TUBULIN, ALPHA-1A; TUBA1A
603251 CYCLIN-DEPENDENT KINASE 9; CDK9
603372 THYROID-STIMULATING HORMONE RECEPTOR; TSHR
603862 CYCLIN T2; CCNT2
604095 ECTODYSPLASIN A RECEPTOR; EDAR
605256 RAD18, S. CEREVISIAE, HOMOLOG OF; RAD18
605327 NUCLEAR FACTOR, INTERLEUKIN 3-REGULATED; NFIL3
605621 INTERLEUKIN 20 RECEPTOR, BETA; IL20RB
605687 INTERLEUKIN 19; IL19
607218 INTERFERON REGULATORY FACTOR 5; IRF5
607328 HEXAMETHYLENE BIS ACETAMIDE-INDUCIBLE PROTEIN 1; HEXIM1
607485 FRONTOTEMPORAL LOBAR DEGENERATION WITH UBIQUITIN-POSITIVE INCLUSIONS;
608354 CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION
608749 BROMODOMAIN-CONTAINING PROTEIN 4; BRD4
609326 MICRO RNA 1-1; MIRN1-1
611100 PROSTATE CANCER, HEREDITARY, 10; HPC10
611469 COLORECTAL CANCER, SUSCEPTIBILITY TO, 2; CRCS2
611603 LISSENCEPHALY 3; LIS3
611833 MITOCHONDRIAL RIBOSOMAL PROTEIN L20; MRPL20
Clinical Synopsis for 610688 JOUBERT SYNDROME 6; JBTS6
Clinical Synopsis for 610854 OSTEOGENESIS IMPERFECTA, TYPE IIB
Clinical Synopsis for 611131 RETINITIS PIGMENTOSA 37; RP37
Clinical Synopsis for 611377 BRACHYDACTYLY, TYPE B2; BDB2
Clinical Synopsis for 611528 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 12; ARVD12

February 19, 2009

Changed Entries:

104250 ALPHA-2C-ADRENERGIC RECEPTOR; ADRA2C
106150 ANGIOTENSINOGEN; AGT
106180 ANGIOTENSIN I-CONVERTING ENZYME; ACE
109630 BETA-1-ADRENERGIC RECEPTOR; ADRB1
114840 CARBOXYL-ESTER LIPASE; CEL
123890 CYTOTOXIC T LYMPHOCYTE-ASSOCIATED 4; CTLA4
125850 MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1; MODY1
125851 MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 2; MODY2
133170 ERYTHROPOIETIN; EPO
137920 RENAL CYSTS AND DIABETES SYNDROME
139200 GROUP-SPECIFIC COMPONENT; GC
142410 HNF1 HOMEOBOX A; HNF1A
147679 INTERLEUKIN 1 RECEPTOR ANTAGONIST; IL1RN
147760 INTERLEUKIN 1-ALPHA; IL1A
167413 PAIRED BOX GENE 4; PAX4
168400 PARASTREMMATIC DWARFISM
177750 PSEUDOMONILETHRIX
180104 RETINITIS PIGMENTOSA 9; RP9
180105 RETINITIS PIGMENTOSA 10; RP10
182860 SPECTRIN, ALPHA, ERYTHROCYTIC 1; SPTA1
182870 SPECTRIN, BETA, ERYTHROCYTIC; SPTB
186740 CD3 ANTIGEN, GAMMA SUBUNIT; CD3G
190040 PLATELET-DERIVED GROWTH FACTOR, BETA POLYPEPTIDE; PDGFB
191480 UNCOMBABLE HAIR SYNDROME
192240 VASCULAR ENDOTHELIAL GROWTH FACTOR; VEGF
194300 WOOLLY HAIR, AUTOSOMAL DOMINANT
214350 CHANDS
243110 IMMUNODEFICIENCY WITH DEFECTIVE T-CELL RESPONSE TO INTERLEUKIN 1
248370 MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY; MADA
250100 METACHROMATIC LEUKODYSTROPHY
268000 RETINITIS PIGMENTOSA; RP
275000 GRAVES DISEASE
275550 TRICHORRHEXIS NODOSA SYNDROME
278150 WOOLLY HAIR, AUTOSOMAL RECESSIVE
300029 RETINITIS PIGMENTOSA 15; RP15
300155 RETINITIS PIGMENTOSA 24; RP24
300277 INTERLEUKIN 1 RECEPTOR ACCESSORY PROTEIN-LIKE 2; IL1RAPL2
300283 INTERLEUKIN 1 RECEPTOR-ASSOCIATED KINASE 1; IRAK1
300388 POLYMICROGYRIA, BILATERAL PERISYLVIAN; BPP
300389 RETINITIS PIGMENTOSA 3; RP3
300424 RETINITIS PIGMENTOSA 23; RP23
300605 RETINITIS PIGMENTOSA 34; RP34
305900 GLUCOSE-6-PHOSPHATE DEHYDROGENASE; G6PD
308385 INTERLEUKIN 3 RECEPTOR, ALPHA; IL3RA
312612 RETINITIS PIGMENTOSA 6; RP6
600059 RETINITIS PIGMENTOSA 13; RP13
600281 HEPATOCYTE NUCLEAR FACTOR 4-ALPHA; HNF4A
600496 MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3; MODY3
600733 INSULIN PROMOTER FACTOR 1; IPF1
600852 RETINITIS PIGMENTOSA 17; RP17
601214 NAXOS DISEASE
601414 RETINITIS PIGMENTOSA 18; RP18
601881 RETINA AND ANTERIOR NEURAL FOLD HOMEOBOX GENE; RAX
602400 ICHTHYOSIS, FOLLICULAR ATROPHODERMA, HYPOTRICHOSIS, AND HYPOHIDROSIS
602594 RETINITIS PIGMENTOSA 22; RP22
602626 INTERLEUKIN 1 RECEPTOR ACCESSORY PROTEIN; IL1RAP
603181 INTERLEUKIN ENHANCER-BINDING FACTOR 2; ILF2
603301 KRUPPEL-LIKE FACTOR 11; KLF11
603304 INTERLEUKIN 1 RECEPTOR-ASSOCIATED KINASE 2; IRAK2
603388 GRAVES DISEASE, SUSCEPTIBILITY TO, 2
604512 INTERLEUKIN 1 RECEPTOR-LIKE 2; IL1RL2
605313 RNA-BINDING MOTIF PROTEIN 8A; RBM8A
605509 INTERLEUKIN 1 FAMILY, MEMBER 6; IL1F6
605510 INTERLEUKIN 1 FAMILY, MEMBER 7; IL1F7
606068 RETINITIS PIGMENTOSA 28; RP28
606392 MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 4; MODY4
606394 MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 6; MODY6
607921 RETINITIS PIGMENTOSA 30; RP30
608133 RETINITIS PIGMENTOSA 7; RP7
609812 MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 8, WITH EXOCRINE DYSFUNCTION;
609913 RETINITIS PIGMENTOSA 32; RP32
609923 RETINITIS PIGMENTOSA 31; RP31
610359 RETINITIS PIGMENTOSA 33; RP33
610508 MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 7; MODY7
611038 MICROPHTHALMIA, ISOLATED 3; MCOP3
612052 LUNG CANCER SUSCEPTIBILITY 2; LNCR2
612165 RETINITIS PIGMENTOSA 29; RP29
612225 MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 9; MODY9
Clinical Synopsis for 163950 NOONAN SYNDROME 1; NS1
Clinical Synopsis for 222470 TRICHOHEPATOENTERIC SYNDROME
Clinical Synopsis for 265000 MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT
Clinical Synopsis for 268300 ROBERTS SYNDROME; RBS
Clinical Synopsis for 269000 SC PHOCOMELIA SYNDROME
Clinical Synopsis for 269920 INFANTILE SIALIC ACID STORAGE DISORDER
Clinical Synopsis for 276710 TYROSINEMIA, TYPE III
Clinical Synopsis for 276820 ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY
Clinical Synopsis for 276904 USHER SYNDROME, TYPE IC; USH1C
Clinical Synopsis for 277610 WEISSENBACHER-ZWEYMULLER SYNDROME; WZS
Clinical Synopsis for 300055 MENTAL RETARDATION, X-LINKED, SYNDROMIC 13; MRXS13
Clinical Synopsis for 300069 CARDIOMYOPATHY, DILATED, 3A; CMD3A
Clinical Synopsis for 300260 LUBS X-LINKED MENTAL RETARDATION SYNDROME; MRXSL
Clinical Synopsis for 300299 NEUTROPENIA, SEVERE CONGENITAL, X-LINKED; XLN
Clinical Synopsis for 300367 DYSERYTHROPOIETIC ANEMIA WITH THROMBOCYTOPENIA
Clinical Synopsis for 300412 MOVED TO 300166
Clinical Synopsis for 303350 MASA SYNDROME
Clinical Synopsis for 305000 DYSKERATOSIS CONGENITA, X-LINKED; DKC
Clinical Synopsis for 305390 EXUDATIVE VITREORETINOPATHY, FAMILIAL, X-LINKED RECESSIVE; EVR2
Clinical Synopsis for 307000 HYDROCEPHALUS DUE TO CONGENITAL STENOSIS OF AQUEDUCT OF SYLVIUS; HSAS
Clinical Synopsis for 312550 RETINAL DYSPLASIA, PRIMARY; PRD
Clinical Synopsis for 313900 THROMBOCYTOPENIA 1; THC1
Clinical Synopsis for 601067 USHER SYNDROME, TYPE ID; USH1D
Clinical Synopsis for 601386 DEAFNESS, AUTOSOMAL RECESSIVE 12; DFNB12
Clinical Synopsis for 601631 IRIDOGONIODYSGENESIS, TYPE 1; IRID1
Clinical Synopsis for 601884 BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 1; BMND1
Clinical Synopsis for 602036 ERYTHROKERATODERMIA, PROGRESSIVE SYMMETRIC
Clinical Synopsis for 602083 USHER SYNDROME, TYPE IF; USH1F
Clinical Synopsis for 602540 ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS
Clinical Synopsis for 603543 LIMB-MAMMARY SYNDROME; LMS
Clinical Synopsis for 603622 DEAFNESS, AUTOSOMAL DOMINANT 17; DFNA17
Clinical Synopsis for 604292 ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME
Clinical Synopsis for 604369 SIALURIA, FINNISH TYPE
Clinical Synopsis for 604841 STICKLER SYNDROME, TYPE II; STL2
Clinical Synopsis for 605249 SEBASTIAN SYNDROME; SBS
Clinical Synopsis for 606812 FUMARASE DEFICIENCY
Clinical Synopsis for 606966 NEPHRONOPHTHISIS 4; NPHP4
Clinical Synopsis for 606996 SENIOR-LOKEN SYNDROME 4; SLSN4
Clinical Synopsis for 607078 EPIPHYSEAL DYSPLASIA, MULTIPLE, 5; EDM5
Clinical Synopsis for 607236 HYPOPREBETALIPOPROTEINEMIA, ACANTHOCYTOSIS, RETINITIS PIGMENTOSA,
Clinical Synopsis for 607326 SMITH-MCCORT DYSPLASIA; SMC
Clinical Synopsis for 607634 OSTEOPETROSIS, AUTOSOMAL DOMINANT 1; OPTA1
Clinical Synopsis for 607636 VAN BUCHEM DISEASE, TYPE 2
Clinical Synopsis for 607778 ACROCAPITOFEMORAL DYSPLASIA; ACFD
Clinical Synopsis for 608728 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MATRILIN-3 RELATED
Clinical Synopsis for 609441 CHONDRODYSPLASIA, ACROMESOMELIC, WITH GENITAL ANOMALIES
Clinical Synopsis for 610188 JOUBERT SYNDROME 5; JBTS5
Clinical Synopsis for 610189 SENIOR-LOKEN SYNDROME 6; SLSN6
Clinical Synopsis for 610256 APHAKIA, CONGENITAL PRIMARY
Clinical Synopsis for 610377 MEVALONIC ACIDURIA
Clinical Synopsis for 610448 CHILBLAIN LUPUS; CHBL

February 18, 2009

New Entries:

612572 RETINITIS PIGMENTOSA 46; RP46

Changed Entries:

103000 ADENYLATE KINASE 1; AK1
114500 COLORECTAL CANCER; CRC
122700 COUMARIN RESISTANCE
123825 CYCLIC NUCLEOTIDE-GATED CHANNEL, ALPHA-1; CNGA1
125350 FAILURE OF TOOTH ERUPTION, PRIMARY; PFE
125850 MATURITY-ONSET DIABETES OF THE YOUNG, TYPE I; MODY1
127550 DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT
140340 MOVED TO 125370
143500 GILBERT SYNDROME
146691 IMP DEHYDROGENASE 2; IMPDH2
147685 INTERLEUKIN ENHANCER-BINDING FACTOR 1; ILF1
151400 LEUKEMIA, CHRONIC LYMPHOCYTIC; CLL
152780 LUTEINIZING HORMONE, BETA POLYPEPTIDE; LHB
156000 MENIERE DISEASE
159530 MYELOPROLIFERATIVE LEUKEMIA VIRUS ONCOGENE; MPL
164759 MOVED TO 167000
167000 OVARIAN CANCER
180071 PHOSPHODIESTERASE 6A, cGMP-SPECIFIC, ROD, ALPHA; PDE6A
180300 RHEUMATOID ARTHRITIS; RA
182860 SPECTRIN, ALPHA, ERYTHROCYTIC 1; SPTA1
191740 UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1
201300 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE II; HSAN2
229120 FOUNTAIN SYNDROME
241080 HYPOGONADISM, ALOPECIA, DIABETES MELLITUS, MENTAL RETARDATION, AND
254500 MYELOMA, MULTIPLE
266140 PYROPOIKILOCYTOSIS, HEREDITARY; HPP
268000 RETINITIS PIGMENTOSA; RP
277950 MOVED TO 259600
590085 TRANSFER RNA, MITOCHONDRIAL, SERINE, 2; MTTS2
600105 RETINITIS PIGMENTOSA 12; RP12
600132 RETINITIS PIGMENTOSA 14; RP14
600342 G PROTEIN-COUPLED RECEPTOR, RETINAL; RGR
600724 CYCLIC NUCLEOTIDE-GATED CHANNEL, BETA-1; CNGB1
601718 RETINITIS PIGMENTOSA 19; RP19
602225 CONE-ROD HOMEOBOX-CONTAINING GENE; CRX
602544 PARKIN; PARK2
602692 GLIOMA PATHOGENESIS-RELATED PROTEIN 1; GLIPR1
602772 RETINITIS PIGMENTOSA 25; RP25
604064 ACTIVATING TRANSCRIPTION FACTOR 4; ATF4
604370 BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1; BROVCA1
604392 ARYLHYDROCARBON-INTERACTING RECEPTOR PROTEIN-LIKE 1; AIPL1
604526 ISOCITRATE DEHYDROGENASE 3, BETA SUBUNIT; IDH3B
605156 MOVED TO 259600
605441 ADIPOCYTE-, C1q-, AND COLLAGEN DOMAIN-CONTAINING; ADIPOQ
605508 INTERLEUKIN 1 FAMILY, MEMBER 8; IL1F8
605542 INTERLEUKIN 1 FAMILY, MEMBER 9; IL1F9
605580 INTERLEUKIN 23-ALPHA; IL23A
605943 GLYCEROPHOSPHODIESTER PHOSPHODIESTERASE 1; GDE1
606255 STATURE AS A QUANTITATIVE TRAIT
606770 ADIPONECTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 2; ADIPQTL2
606771 ADIPONECTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 3; ADIPQTL3
607981 NEGATIVE REGULATOR OF UBIQUITIN-LIKE PROTEINS 1; NUB1
608380 RETINITIS PIGMENTOSA 26; RP26
608620 MOVED TO 605232
608968 V-MAF MUSCULOAPONEUROTIC FIBROSARCOMA ONCOGENE FAMILY, PROTEIN B;
610112 C-MAF-INDUCING PROTEIN
610282 RETINITIS PIGMENTOSA 35; RP35
610303 V-MAF AVIAN MUSCULOAPONEUROTIC FIBROSARCOMA ONCOGENE HOMOLOG A; MAFA
610359 RETINITIS PIGMENTOSA 33; RP33
610599 RETINITIS PIGMENTOSA 36; RP36
610702 HEAT-SHOCK 70-KD PROTEIN 12B; HSPA12B
610926 TOOTH AGENESIS, SELECTIVE, 5; STHAG5
611131 RETINITIS PIGMENTOSA 37; RP37
611955 PROSTATE CANCER, HEREDITARY, 11; HPC11
612095 RETINITIS PIGMENTOSA 41; RP41
612223 STATURE QUANTITATIVE TRAIT LOCUS 11; STQTL11
612224 STATURE QUANTITATIVE TRAIT LOCUS 12; STQTL12
612381 INFLAMMATORY BOWEL DISEASE 23; IBD23
612555 BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2; BROVCA2
612556 ADIPONECTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1; ADIPQTL1
612560 BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 12; BMND12
612561 DIAMOND-BLACKFAN ANEMIA 6; DBA6
612562 DIAMOND-BLACKFAN ANEMIA 7; DBA7
612563 DIAMOND-BLACKFAN ANEMIA 8; DBA8
612564 THIOREDOXIN DOMAIN-CONTAINING PROTEIN 9; TXNDC9
612565 RAS-ASSOCIATED PROTEIN RAB1B; RAB1B
612566 INFLAMMATORY BOWEL DISEASE 24; IBD24
612567 INFLAMMATORY BOWEL DISEASE 25; IBD25
612568 SPIC TRANSCRIPTION FACTOR; SPIC
612569 CELL DIVISION CYCLE AND APOPTOSIS REGULATOR 1; CCAR1
612570 FIBRILLIN 2; FBN2
612572 RETINITIS PIGMENTOSA 46; RP46
612576 SPLIT-HAND/FOOT MALFORMATION WITH LONG BONE DEFICIENCY 3; SHFLD3
612578 STATURE QUANTITATIVE TRAIT LOCUS 15; STQTL15
612579 STATURE QUANTITATIVE TRAIT LOCUS 16; STQTL16
612580 MENTAL RETARDATION, AUTOSOMAL DOMINANT 3; MRD3
612581 MENTAL RETARDATION, AUTOSOMAL DOMINANT 4; MRD4
612582 CHROMOSOME 6pter-p24 DELETION SYNDROME
612583 SPINSTER, DROSOPHILA, HOMOLOG OF, 1; SPNS1
612584 SPINSTER, DROSOPHILA, HOMOLOG OF, 2; SPNS2
612585 CLPTM1-LIKE PROTEIN; CLPTM1L
612588 BCL2-ASSOCIATED TRANSCRIPTION FACTOR 1; BCLAF1
612597 CYTOTOXIC AND REGULATORY T-CELL MOLECULE; CRTAM
612598 RING FINGER PROTEIN 11; RNF11
612600 RNA METHYLTRANSFERASE-LIKE 1; RNMTL1
612601 RET FINGER PROTEIN-LIKE 4A; RFPL4A
612602 RNA-BINDING MOTIF PROTEIN 15B; RBM15B
612603 LATE CORNIFIED ENVELOPE PROTEIN 1A; LCE1A
612604 LATE CORNIFIED ENVELOPE PROTEIN 1B; LCE1B
612605 LATE CORNIFIED ENVELOPE 1C; LCE1C
612606 LATE CORNIFIED ENVELOPE PROTEIN 1D; LCE1D
612607 LATE CORNIFIED ENVELOPE PROTEIN 1E; LCE1E
612608 LATE CORNIFIED ENVELOPE PROTEIN 1F; LCE1F
612631 ADENYLATE KINASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO
Clinical Synopsis for 109150 MACHADO-JOSEPH DISEASE; MJD
Clinical Synopsis for 125370 DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY; DRPLA
Clinical Synopsis for 143100 HUNTINGTON DISEASE; HD
Clinical Synopsis for 160900 DYSTROPHIA MYOTONICA 1
Clinical Synopsis for 164300 OCULOPHARYNGEAL MUSCULAR DYSTROPHY; OPMD
Clinical Synopsis for 209900 BARDET-BIEDL SYNDROME; BBS
Clinical Synopsis for 209920 BARE LYMPHOCYTE SYNDROME, TYPE II
Clinical Synopsis for 229300 FRIEDREICH ATAXIA 1; FRDA
Clinical Synopsis for 277950 MOVED TO 259600
Clinical Synopsis for 313200 SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1; SMAX1
Clinical Synopsis for 602668 DYSTROPHIA MYOTONICA 2; DM2
Clinical Synopsis for 603516 SPINOCEREBELLAR ATAXIA 10; SCA10
Clinical Synopsis for 605156 MOVED TO 259600
Clinical Synopsis for 606438 HUNTINGTON DISEASE-LIKE 2; HDL2
Clinical Synopsis for 606798 BLEPHAROSPASM, BENIGN ESSENTIAL
Clinical Synopsis for 607136 SPINOCEREBELLAR ATAXIA 17; SCA17
Clinical Synopsis for 608768 SPINOCEREBELLAR ATAXIA 8; SCA8

February 17, 2009

New Entries:

612631 ADENYLATE KINASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO

Changed Entries:

103000 ADENYLATE KINASE 1; AK1
107720 APOLIPOPROTEIN C-III; APOC3
120131 COLLAGEN, TYPE IV, ALPHA-4; COL4A4
134797 FIBRILLIN 1; FBN1
138945 GRANULIN PRECURSOR; GRN
140340 MOVED TO 125370
147679 INTERLEUKIN 1 RECEPTOR ANTAGONIST; IL1RN
165500 OPTIC ATROPHY 1; OPA1
180721 ROD OUTER SEGMENT PROTEIN 1; ROM1
200710 MOVED TO 200610
200720 MOVED TO 200610
248340 MALPUECH FACIAL CLEFTING SYNDROME
257920 MICHELS SYNDROME
265050 CARNEVALE SYNDROME
268000 RETINITIS PIGMENTOSA; RP
300382 ARISTALESS-RELATED HOMEOBOX, X-LINKED; ARX
300591 STATURE QUANTITATIVE TRAIT LOCUS 6; STQTL6
300623 FRAGILE X TREMOR/ATAXIA SYNDROME; FXTAS
300633 HYPOSPADIAS, 1, X-LINKED; HYSP1
400043 DEAFNESS, Y-LINKED 1; DFNY1
602671 GLUCOSE-6-PHOSPHATE TRANSPORTER 1; G6PT1
605210 DISRUPTED IN SCHIZOPHRENIA 1; DISC1
606256 STATURE QUANTITATIVE TRAIT LOCUS 2; STQTL2
606257 STATURE QUANTITATIVE TRAIT LOCUS 3; STQTL3
606258 STATURE QUANTITATIVE TRAIT LOCUS 4; STQTL4
606391 MATURITY-ONSET DIABETES OF THE YOUNG; MODY
606770 ADIPONECTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 2; ADIPQTL2
606771 ADIPONECTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 3; ADIPQTL3
608133 RETINITIS PIGMENTOSA 7; RP7
608735 SOLUTE CARRIER FAMILY 39 (ZINC TRANSPORTER), MEMBER 13; SLC39A13
608982 STATURE QUANTITATIVE TRAIT LOCUS 5; STQTL5
609822 STATURE QUANTITATIVE TRAIT LOCUS 7; STQTL7
610114 STATURE QUANTITATIVE TRAIT LOCUS 8; STQTL8
612350 SPONDYLOCHEIRODYSPLASIA, EHLERS-DANLOS SYNDROME-LIKE
612570 FIBRILLIN 2; FBN2
612576 SPLIT-HAND/FOOT MALFORMATION WITH LONG BONE DEFICIENCY 3; SHFLD3
612628 MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 4; MVCD4
612631 ADENYLATE KINASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO
Clinical Synopsis for 125370 DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY; DRPLA
Clinical Synopsis for 140340 MOVED TO 125370
Clinical Synopsis for 200710 MOVED TO 200610
Clinical Synopsis for 200720 MOVED TO 200610

February 16, 2009

New Entries:

612621 MENTAL RETARDATION, AUTOSOMAL DOMINANT 5; MRD5
612628 MICROVASCULAR COMPLICATIONS OF DIABETES 4, SUSCEPTIBILITY TO; MVCD4
612629 ADIPONECTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 4; ADIPQTL4

Changed Entries:

109750 BILIVERDIN REDUCTASE A; BLVRA
116899 CYCLIN-DEPENDENT KINASE INHIBITOR 1A; CDKN1A
116957 RETINOBLASTOMA-LIKE 1; RBL1
125850 MATURITY-ONSET DIABETES OF THE YOUNG, TYPE I; MODY1
126200 MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO; MS
142340 DIAPHRAGMATIC HERNIA, CONGENITAL
142959 HOMEOBOX A13; HOXA13
147679 INTERLEUKIN 1 RECEPTOR ANTAGONIST; IL1RN
147720 INTERLEUKIN 1-BETA; IL1B
155720 MELANOMA, UVEAL
176730 INSULIN; INS
179095 UBIQUITIN-CONJUGATING ENZYME E2B; UBE2B
179200 RADIAL HEADS, POSTERIOR DISLOCATION OF
180100 RETINITIS PIGMENTOSA 1; RP1
180200 RETINOBLASTOMA; RB1
180203 RETINOBLASTOMA-LIKE 2; RBL2
213300 JOUBERT SYNDROME; JBTS
268000 RETINITIS PIGMENTOSA; RP
276820 ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY
300155 RETINITIS PIGMENTOSA 24; RP24
300389 RETINITIS PIGMENTOSA 3; RP3
300578 CHROMOSOME Xp11.3 DELETION SYNDROME
300757 RP2 GENE; RP2
310600 NORRIE DISEASE; ND
312180 UBIQUITIN-CONJUGATING ENZYME E2A; UBE2A
312600 RETINITIS PIGMENTOSA 2; RP2
312610 RETINITIS PIGMENTOSA GTPase REGULATOR; RPGR
600145 SACRAL DEFECT WITH ANTERIOR MENINGOCELE
600998 GUANINE NUCLEOTIDE-BINDING PROTEIN, Q POLYPEPTIDE; GNAQ
601593 BRCA1-ASSOCIATED RING DOMAIN 1; BARD1
602291 FORKHEAD BOX J1; FOXJ1
602501 MACROCEPHALY-CAPILLARY MALFORMATION; M-CM
602971 TUBULIN-SPECIFIC CHAPERONE C; TBCC
603384 SYNAPTIC RAS-GTPase-ACTIVATING PROTEIN 1; SYNGAP1
603670 BLUE NEVI, FAMILIAL MULTIPLE
603699 WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 11; WNT11
603803 DACHSHUND, DROSOPHILA, HOMOLOG OF, 1; DACH1
604365 PROMININ 1; PROM1
604695 ADP-RIBOSYLATION FACTOR-LIKE 3; ARL3
604861 LARGE TUMOR SUPPRESSOR, DROSOPHILA, HOMOLOG OF, 2; LATS2
605256 RAD18, S. CEREVISIAE, HOMOLOG OF; RAD18
605751 CONVULSIONS, BENIGN FAMILIAL INFANTILE, 2; BFIC2
606391 MATURITY-ONSET DIABETES OF THE YOUNG; MODY
606653 LEUCINE-RICH REPEAT-CONTAINING G PROTEIN-COUPLED RECEPTOR 6; LGR6
606667 LEUCINE-RICH REPEAT-CONTAINING G PROTEIN-COUPLED RECEPTOR 5; LGR5
606770 ADIPONECTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 2; ADIPQTL2
606771 ADIPONECTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 3; ADIPQTL3
608048 SNF2, LINKER HISTONE, PHD FINGER, RING FINGER, AND HELICASE DOMAINS-CONTAINING
609030 DIGEORGE SYNDROME CRITICAL REGION GENE 8; DGCR8
612556 ADIPONECTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1; ADIPQTL1

February 13, 2009

New Entries:

612589 COLORECTAL CANCER, SUSCEPTIBILITY TO, 8; CRCS8
612590 COLORECTAL CANCER, SUSCEPTIBILITY TO, 9; CRCS9
612591 COLORECTAL CANCER, SUSCEPTIBILITY TO, 10; CRCS10
612592 COLORECTAL CANCER, SUSCEPTIBILITY TO, 11; CRCS11
612594 MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 2; MS2
612595 MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 3; MS3
612596 MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 4; MS4

Changed Entries:

103880 ALDO-KETO REDUCTASE FAMILY 1, MEMBER B1; AKR1B1
106150 ANGIOTENSINOGEN; AGT
106180 ANGIOTENSIN I-CONVERTING ENZYME; ACE
107720 APOLIPOPROTEIN C-III; APOC3
107741 APOLIPOPROTEIN E; APOE
114500 COLORECTAL CANCER; CRC
114800 CARBONIC ANHYDRASE I; CA1
118430 CHLORPROPAMIDE-ALCOHOL FLUSHING; CPAF
120360 MATRIX METALLOPROTEINASE 2; MMP2
123885 S100 CALCIUM-BINDING PROTEIN A8; S100A8
123886 S100 CALCIUM-BINDING PROTEIN A9; S100A9
126200 MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO; MS
133170 ERYTHROPOIETIN; EPO
146661 INTERLEUKIN 7 RECEPTOR; IL7R
146700 ICHTHYOSIS VULGARIS
147440 INSULIN-LIKE GROWTH FACTOR I; IGF1
147730 INTERLEUKIN 2 RECEPTOR, ALPHA; IL2RA
151460 PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, C; PTPRC
152445 LORICRIN; LOR
162280 NEUROFILAMENT PROTEIN, LIGHT POLYPEPTIDE; NEFL
167413 PAIRED BOX GENE 4; PAX4
172860 PIGMENT EPITHELIUM-DERIVED FACTOR; PEDF
188545 THYROTROPIN-RELEASING HORMONE RECEPTOR; TRHR
188825 TISSUE INHIBITOR OF METALLOPROTEINASE 2; TIMP2
190040 PLATELET-DERIVED GROWTH FACTOR, BETA POLYPEPTIDE; PDGFB
192240 VASCULAR ENDOTHELIAL GROWTH FACTOR; VEGF
222100 DIABETES MELLITUS, INSULIN-DEPENDENT; IDDM
222300 WOLFRAM SYNDROME 1; WFS1
223360 DOPAMINE BETA-HYDROXYLASE DEFICIENCY, CONGENITAL
243400 ACETYLATION, SLOW
269700 LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2; CGL2
600074 CD24 ANTIGEN; CD24
600214 ADVANCED GLYCOSYLATION END PRODUCT-SPECIFIC RECEPTOR; AGER
600754 MATRIX METALLOPROTEINASE 14; MMP14
600835 CHEMOKINE, CXC MOTIF, LIGAND 12; CXCL12
600899 PROTEIN KINASE, DNA-ACTIVATED, CATALYTIC SUBUNIT; PRKDC
601588 MOVED TO 152445
601922 ANGIOPOIETIN 2; ANGPT2
602201 EXTRACELLULAR MATRIX PROTEIN 1; ECM1
602958 SERUM/GLUCOCORTICOID-REGULATED KINASE 1; SGK1
603030 TOLL-LIKE RECEPTOR 4; TLR4
603865 GLUTAMINE:FRUCTOSE-6-PHOSPHATE AMIDOTRANSFERASE 2; GFPT2
603933 MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 1; MVCD1
604671 JUMPING TRANSLOCATION BREAKPOINT; JTB
604740 SOLUTE CARRIER FAMILY 39 (ZINC TRANSPORTER), MEMBER 1; SLC39A1
605988 DNA CROSS-LINK REPAIR PROTEIN 1C; DCLRE1C
605995 KINESIN FAMILY MEMBER 1B; KIF1B
608197 PEPTIDOGLYCAN RECOGNITION PROTEIN 3; PGLYRP3
608198 PEPTIDOGLYCAN RECOGNITION PROTEIN 4; PGLYRP4
608330 PRECURSOR mRNA-PROCESSING FACTOR 19, S. CEREVISIAE, HOMOLOG OF; PRPF19
609708 LIPOPROTEIN LIPASE; LPL
611537 CATENIN, BETA-LIKE, 1; CTNNBL1
612623 MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 2; MVCD2
612624 MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 3; MVCD3

February 12, 2009

New Entries:

300757 RP2 GENE; RP2
612571 LUNG CANCER SUSCEPTIBILITY 3; LNCR3
612586 ANEURYSM, INTRACRANIAL BERRY, 9
612587 ANEURYSM, INTRACRANIAL BERRY, 10
612593 LUNG CANCER SUSCEPTIBILITY 4; LNCR4
612606 LATE CORNIFIED ENVELOPE PROTEIN 1D; LCE1D
612607 LATE CORNIFIED ENVELOPE PROTEIN 1E; LCE1E
612608 LATE CORNIFIED ENVELOPE PROTEIN 1F; LCE1F
612609 LATE CORNIFIED ENVELOPE PROTEIN 2A; LCE2A
612610 LATE CORNIFIED ENVELOPE PROTEIN 2B; LCE2B
612611 LATE CORNIFIED ENVELOPE PROTEIN 2C; LCE2C
612612 LATE CORNIFIED ENVELOPE PROTEIN 2D; LCE2D
612613 LATE CORNIFIED ENVELOPE PROTEIN 3A; LCE3A
612614 LATE CORNIFIED ENVELOPE PROTEIN 3B; LCE3B
612615 LATE CORNIFIED ENVELOPE PROTEIN 3C; LCE3C
612616 LATE CORNIFIED ENVELOPE PROTEIN 3D; LCE3D
612617 LATE CORNIFIED ENVELOPE PROTEIN 3E; LCE3E
612618 LATE CORNIFIED ENVELOPE PROTEIN 4A; LCE4A
612619 LATE CORNIFIED ENVELOPE PROTEIN 5A; LCE5A
612622 DIABETES MELLITUS, INSULIN-DEPENDENT, 23; IDDM23
612623 MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 2; MVCD2
612624 MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 3; MVCD3
612625 LMBR1 DOMAIN-CONTAINING PROTEIN 1: LMBRD1
Clinical Synopsis for 612391 HYPERPIGMENTATION, CUTANEOUS, WITH HYPERTRICHOSIS, HEPATOSPLENOMEGALY,

Changed Entries:

101200 APERT SYNDROME
105800 ANEURYSM, INTRACRANIAL BERRY, 1
106180 ANGIOTENSIN I-CONVERTING ENZYME; ACE
107720 APOLIPOPROTEIN C-III; APOC3
107741 APOLIPOPROTEIN E; APOE
115700 CATARACT, CRYSTALLINE ACULEIFORM
120360 MATRIX METALLOPROTEINASE 2; MMP2
123450 CRI-DU-CHAT SYNDROME
125853 DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM
133170 ERYTHROPOIETIN; EPO
148066 KERATIN 14; KRT14
156232 MESOMELIC DYSPLASIA, KANTAPUTRA TYPE
164400 SPINOCEREBELLAR ATAXIA 1; SCA1
166600 OSTEOPETROSIS, AUTOSOMAL DOMINANT 2; OPTA2
168300 PARAMYOTONIA CONGENITA OF VON EULENBURG; PMC
168550 PARIETAL FORAMINA WITH CLEIDOCRANIAL DYSPLASIA; PFMCCD
174100 MOVED TO 192350
180500 RIEGER SYNDROME, TYPE 1; RIEG1
191390 INFLAMMATORY BOWEL DISEASE 11; IBD11
192240 VASCULAR ENDOTHELIAL GROWTH FACTOR; VEGF
200990 ACROCALLOSAL SYNDROME; ACLS
204500 CEROID LIPOFUSCINOSIS, NEURONAL, 2; CLN2
211980 LUNG CANCER
222100 DIABETES MELLITUS, INSULIN-DEPENDENT; IDDM
225400 EHLERS-DANLOS SYNDROME, TYPE VI
228100 FATTY METAMORPHOSIS OF VISCERA
231070 GERODERMA OSTEODYSPLASTICUM; GO
231690 GLUTARIC ACIDURIA III
239400 HYPERPIPECOLATEMIA
251260 NIJMEGEN BREAKAGE SYNDROME
259600 TORG-WINCHESTER SYNDROME
266600 INFLAMMATORY BOWEL DISEASE 1; IBD1
277480 VON WILLEBRAND DISEASE, RECESSIVE FORM
277950 MOVED TO 259600
308370 MOVED TO 312300
312600 RETINITIS PIGMENTOSA 2; RP2
312865 SHORT STATURE HOMEOBOX; SHOX
313900 THROMBOCYTOPENIA 1; THC1
600046 ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 1; ABCA1
600501 ABCD SYNDROME
601451 NEVO SYNDROME
603543 LIMB-MAMMARY SYNDROME; LMS
603594 TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 4; TNFSF4
603933 MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 1; MVCD1
604292 ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME
605156 MOVED TO 259600
606348 INFLAMMATORY BOWEL DISEASE 5; IBD5
607983 SCYL1-BINDING PROTEIN 1; SCYL1BP1
609187 CHROMOSOME 7 OPEN READING FRAME 10; C7ORF10
609567 PATATIN-LIKE PHOSPHOLIPASE DOMAIN-CONTAINING PROTEIN 3; PNPLA3
609708 LIPOPROTEIN LIPASE; LPL
611892 ANEURYSM, INTRACRANIAL BERRY, 6
612052 LUNG CANCER SUSCEPTIBILITY 2; LNCR2
612391 HYPERPIGMENTATION, CUTANEOUS, WITH HYPERTRICHOSIS, HEPATOSPLENOMEGALY,
612606 LATE CORNIFIED ENVELOPE PROTEIN 1D; LCE1D
612607 LATE CORNIFIED ENVELOPE PROTEIN 1E; LCE1E
612608 LATE CORNIFIED ENVELOPE PROTEIN 1F; LCE1F
612609 LATE CORNIFIED ENVELOPE PROTEIN 2A; LCE2A
612615 LATE CORNIFIED ENVELOPE PROTEIN 3C; LCE3C
612624 MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 3; MVCD3
Clinical Synopsis for 103500 TIETZ SYNDROME
Clinical Synopsis for 106260 ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE
Clinical Synopsis for 112500 BRACHYDACTYLY, TYPE A1; BDA1
Clinical Synopsis for 113000 BRACHYDACTYLY, TYPE B1; BDB1
Clinical Synopsis for 113100 BRACHYDACTYLY, TYPE C; BDC
Clinical Synopsis for 118600 CHONDROCALCINOSIS 2; CCAL2
Clinical Synopsis for 124200 DARIER-WHITE DISEASE; DAR
Clinical Synopsis for 124500 DEAFNESS, CONGENITAL, WITH KERATOPACHYDERMIA AND CONSTRICTIONS OF
Clinical Synopsis for 125420 DENTIN DYSPLASIA, TYPE II
Clinical Synopsis for 125490 DENTINOGENESIS IMPERFECTA 1; DGI1
Clinical Synopsis for 129400 RAPP-HODGKIN SYNDROME; RHS
Clinical Synopsis for 132400 EPIPHYSEAL DYSPLASIA, MULTIPLE, 1; EDM1
Clinical Synopsis for 140350 HAWKINSINURIA
Clinical Synopsis for 144750 HYPEROSTOSIS CORTICALIS GENERALISATA, BENIGN FORM OF WORTH, WITH TORUS
Clinical Synopsis for 148350 KERATODERMA, PALMOPLANTAR, WITH DEAFNESS
Clinical Synopsis for 150800 LEIOMYOMA, HEREDITARY MULTIPLE, OF SKIN
Clinical Synopsis for 151100 LEOPARD SYNDROME 1
Clinical Synopsis for 153640 FECHTNER SYNDROME; FTNS
Clinical Synopsis for 153840 MACULAR DYSTROPHY, ATYPICAL VITELLIFORM; VMD1
Clinical Synopsis for 154780 MARSHALL SYNDROME
Clinical Synopsis for 158350 COWDEN DISEASE; CD
Clinical Synopsis for 163950 NOONAN SYNDROME 1; NS1
Clinical Synopsis for 166600 OSTEOPETROSIS, AUTOSOMAL DOMINANT 2; OPTA2
Clinical Synopsis for 169400 PELGER-HUET ANOMALY; PHA
Clinical Synopsis for 173600 PNEUMOTHORAX, PRIMARY SPONTANEOUS
Clinical Synopsis for 174100 MOVED TO 192350
Clinical Synopsis for 177820 PSEUDO-VON WILLEBRAND DISEASE
Clinical Synopsis for 177850 PSEUDOXANTHOMA ELASTICUM, FORME FRUSTE
Clinical Synopsis for 183085 MOVED TO 109150
Clinical Synopsis for 184460 STAPES ANKYLOSIS WITH BROAD THUMB AND TOES
Clinical Synopsis for 184500 STEATOCYSTOMA MULTIPLEX
Clinical Synopsis for 184840 STICKLER SYNDROME, TYPE III; STL3
Clinical Synopsis for 185800 SYMPHALANGISM, PROXIMAL; SYM1
Clinical Synopsis for 186500 MULTIPLE SYNOSTOSES SYNDROME 1; SYNS1
Clinical Synopsis for 186570 TARSAL-CARPAL COALITION SYNDROME; TCC
Clinical Synopsis for 190350 TRICHORHINOPHALANGEAL SYNDROME, TYPE I; TRPS1
Clinical Synopsis for 190351 TRICHORHINOPHALANGEAL SYNDROME, TYPE III; TRPS3
Clinical Synopsis for 193520 WATSON SYNDROME
Clinical Synopsis for 193530 WEYERS ACROFACIAL DYSOSTOSIS
Clinical Synopsis for 200700 CHONDRODYSPLASIA, GREBE TYPE
Clinical Synopsis for 201250 ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE
Clinical Synopsis for 215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA
Clinical Synopsis for 215150 OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA; OSMED
Clinical Synopsis for 222600 DIASTROPHIC DYSPLASIA
Clinical Synopsis for 226900 EPIPHYSEAL DYSPLASIA, MULTIPLE, 4; EDM4
Clinical Synopsis for 228600 FIBROMATOSIS, JUVENILE HYALINE
Clinical Synopsis for 228900 FIBULAR HYPOPLASIA AND COMPLEX BRACHYDACTYLY
Clinical Synopsis for 228930 FIBULAR APLASIA OR HYPOPLASIA, FEMORAL BOWING AND POLY-, SYN-, AND
Clinical Synopsis for 234200 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1; NBIA1
Clinical Synopsis for 236700 MCKUSICK-KAUFMAN SYNDROME; MKKS
Clinical Synopsis for 239400 HYPERPIPECOLATEMIA
Clinical Synopsis for 241410 HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME; HRD
Clinical Synopsis for 244460 KENNY-CAFFEY SYNDROME, TYPE 1; KCS
Clinical Synopsis for 245010 HAIM-MUNK SYNDROME; HMS
Clinical Synopsis for 250250 CARTILAGE-HAIR HYPOPLASIA; CHH
Clinical Synopsis for 250460 METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS
Clinical Synopsis for 251200 MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 1; MCPH1
Clinical Synopsis for 252600 MUCOLIPIDOSIS III ALPHA/BETA
Clinical Synopsis for 256050 ATELOSTEOGENESIS, TYPE II; AOII
Clinical Synopsis for 256100 NEPHRONOPHTHISIS 1; NPHP1
Clinical Synopsis for 260920 HYPER-IgD SYNDROME; HIDS
Clinical Synopsis for 262190 PINEAL HYPERPLASIA, INSULIN-RESISTANT DIABETES MELLITUS, AND SOMATIC
Clinical Synopsis for 308370 MOVED TO 312300

February 11, 2009

New Entries:

612600 RNA METHYLTRANSFERASE-LIKE 1; RNMTL1
612601 RET FINGER PROTEIN-LIKE 4A; RFPL4A
612602 RNA-BINDING MOTIF PROTEIN 15B; RBM15B
612603 LATE CORNIFIED ENVELOPE PROTEIN 1A; LCE1A
612604 LATE CORNIFIED ENVELOPE PROTEIN 1B; LCE1B
612605 LATE CORNIFIED ENVELOPE 1C; LCE1C
612620 RAS ASSOCIATION DOMAIN FAMILY, MEMBER 6; RASSF6

Changed Entries:

114019 CADHERIN 15; CDH15
146930 INTERLEUKIN 8; IL8
167200 PACHYONYCHIA CONGENITA, TYPE 1; PC1
180100 RETINITIS PIGMENTOSA 1; RP1
180104 RETINITIS PIGMENTOSA 9; RP9
180380 RHODOPSIN; RHO
207800 ARGININEMIA
207900 ARGININOSUCCINIC ACIDURIA
208100 ARTHROGRYPOSIS MULTIPLEX CONGENITA, NEUROGENIC TYPE; AMCN
208150 FETAL AKINESIA DEFORMATION SEQUENCE; FADS
208400 ASPARTYLGLUCOSAMINURIA
208900 ATAXIA-TELANGIECTASIA; AT
209800 AUSTRALIA ANTIGEN
209880 AUTONOMIC CONTROL, CONGENITAL FAILURE OF
275000 GRAVES DISEASE
600185 BRCA2 GENE; BRCA2
601985 COILED-COIL DOMAIN-CONTAINING PROTEIN 6; CCDC6
602544 PARKIN; PARK2
603030 TOLL-LIKE RECEPTOR 4; TLR4
603937 RP1 GENE; RP1
605243 LYMPHOCYTE ANTIGEN 96; LY96
606077 RNA-BINDING MOTIF PROTEIN 15; RBM15
606155 FRYNS-AFTIMOS SYNDROME
606156 SENER SYNDROME
606951 INTERFERON INDUCED WITH HELICASE C DOMAIN PROTEIN 1; IFIH1
608578 CEREBROFRONTOFACIAL SYNDROME
610155 DIABETES MELLITUS, INSULIN-DEPENDENT, 19; IDDM19

February 10, 2009

New Entries:

612582 CHROMOSOME 6p DELETION SYNDROME

Changed Entries:

103050 ADENYLOSUCCINASE DEFICIENCY
103580 PSEUDOHYPOPARATHYROIDISM, TYPE IA; PHP1A
107480 TOWNES-BROCKS SYNDROME; TBS
115197 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4; CMH4
118200 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B; CMT1B
123825 CYCLIC NUCLEOTIDE-GATED CHANNEL, ALPHA-1; CNGA1
143100 HUNTINGTON DISEASE; HD
146510 PALLISTER-HALL SYNDROME; PHS
165240 GLI-KRUPPEL FAMILY MEMBER 3; GLI3
174100 MOVED TO 192350
174200 POLYDACTYLY, POSTAXIAL, TYPE A1
175700 GREIG CEPHALOPOLYSYNDACTYLY SYNDROME; GCPS
176290 DELTA, DROSOPHILA, HOMOLOG-LIKE 1; DLK1
180071 PHOSPHODIESTERASE 6A, cGMP-SPECIFIC, ROD, ALPHA; PDE6A
180090 RETINALDEHYDE-BINDING PROTEIN 1; RLBP1
180200 RETINOBLASTOMA; RB1
191100 TUBEROUS SCLEROSIS; TS
191710 CYTIDINE MONOPHOSPHATE (UMP-CMP) KINASE 1, CYTOSOLIC; CMPK1
192340 ARGININE VASOPRESSIN; AVP
192350 VATER ASSOCIATION
192500 LONG QT SYNDROME 1; LQT1
192600 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC; CMH
192974 INTEGRIN, ALPHA-2; ITGA2
193200 VITILIGO
193300 VON HIPPEL-LINDAU SYNDROME; VHL
193400 VON WILLEBRAND DISEASE
193530 WEYERS ACROFACIAL DYSOSTOSIS
194000 WIDOW'S PEAK
194050 WILLIAMS-BEUREN SYNDROME; WBS
194070 WILMS TUMOR 1; WT1
194380 DEHYDRATED HEREDITARY STOMATOCYTOSIS; DHS
200100 ABETALIPOPROTEINEMIA; ABL
200700 CHONDRODYSPLASIA, GREBE TYPE
201100 ACRODERMATITIS ENTEROPATHICA, ZINC-DEFICIENCY TYPE; AEZ
201910 ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY
203100 ALBINISM, OCULOCUTANEOUS, TYPE IA; OCA1A
203500 ALKAPTONURIA
203750 ALPHA-METHYLACETOACETIC ACIDURIA
205400 TANGIER DISEASE; TGD
206500 ANENCEPHALY
207750 APOLIPOPROTEIN C-II DEFICIENCY
231000 GAUCHER DISEASE, TYPE III
236250 HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE
251280 MICROCEPHALY WITH SPASTIC QUADRIPLEGIA
300207 G PROTEIN-COUPLED RECEPTOR 50; GPR50
600342 G PROTEIN-COUPLED RECEPTOR, RETINAL; RGR
600596 MICROFIBRILLAR-ASSOCIATED PROTEIN 4; MFAP4
600665 MELATONIN RECEPTOR 1A; MTNR1A
600724 CYCLIC NUCLEOTIDE-GATED CHANNEL, BETA-1; CNGB1
600804 MELATONIN RECEPTOR 1B; MTNR1B
600958 MYOSIN-BINDING PROTEIN C, CARDIAC; MYBPC3
602218 SAL-LIKE 1; SALL1
603233 PSEUDOHYPOPARATHYROIDISM, TYPE IB; PHP1B
603431 EUKARYOTIC TRANSLATION INITIATION FACTOR 4H; EIF4H
603432 CAP-GLY DOMAIN-CONTAINING LINKER PROTEIN 2; CLIP2
605532 SMAD-SPECIFIC E3 UBIQUITIN PROTEIN LIGASE 2; SMURF2
605678 MLX-INTERACTING PROTEIN-LIKE; MLXIPL
605719 LINKER FOR ACTIVATION OF T CELLS FAMILY, MEMBER 2; LAT2
605842 TRANSDUCIN-BETA-LIKE 2; TBL2
606247 STAM-BINDING PROTEIN; STAMBP
606409 ITCHY, MOUSE, HOMOLOG OF; ITCH
607093 5,10-@METHYLENETETRAHYDROFOLATE REDUCTASE; MTHFR
611631 EPILEPSY, FAMILIAL TEMPORAL LOBE, 4; ETL4
Clinical Synopsis for 274000 CHROMOSOME 1q21.1 DELETION SYNDROME, 200-KB
Clinical Synopsis for 606176 DIABETES MELLITUS, PERMANENT NEONATAL; PNDM
Clinical Synopsis for 606673 BETA-UREIDOPROPIONASE; UPB1

February 9, 2009

New Entries:

612580 MENTAL RETARDATION, AUTOSOMAL DOMINANT 3; MRD3
612581 MENTAL RETARDATION, AUTOSOMAL DOMINANT 4; MRD4
612597 CYTOTOXIC AND REGULATORY T-CELL MOLECULE; CRTAM
612598 RING FINGER PROTEIN 11; RNF11

Changed Entries:

102700 SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE,
113705 BREAST CANCER 1 GENE; BRCA1
114019 CADHERIN 15; CDH15
125370 DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY; DRPLA
127750 DEMENTIA, LEWY BODY; DLB
140340 MOVED TO 125370
163950 NOONAN SYNDROME 1; NS1
168600 PARKINSON DISEASE; PD
176300 TRANSTHYRETIN; TTR
176450 CURRARINO SYNDROME
176630 PRIMARY RELEASE DISORDER OF PLATELETS
176640 PRION PROTEIN; PRNP
176730 INSULIN; INS
176805 PROSTAGLANDIN-ENDOPEROXIDE SYNTHASE 1; PTGS1
177000 PROTOPORPHYRIA, ERYTHROPOIETIC
177720 PSEUDOHYPERKALEMIA, FAMILIAL, 1, DUE TO RED CELL LEAK
179000 PURPURA SIMPLEX
179450 RAGWEED SENSITIVITY
180200 RETINOBLASTOMA; RB1
180250 RETINOL-BINDING PROTEIN 4; RBP4
180370 THIOSULFATE SULFURTRANSFERASE; TST
181000 SARCOIDOSIS, SUSCEPTIBILITY TO, 1; SS1
181500 SCHIZOPHRENIA; SCZD
181510 SCHIZOPHRENIA 1; SCZD1
181750 SCLERODERMA, FAMILIAL PROGRESSIVE
182205 SEX HORMONE-BINDING GLOBULIN; SHBG
182230 SEPTOOPTIC DYSPLASIA
182280 SMALL CELL CANCER OF THE LUNG
182800 SPASTIC PARAPLEGIA WITH ASSOCIATED EXTRAPYRAMIDAL SIGNS
182900 SPHEROCYTOSIS, HEREDITARY; HS
182940 NEURAL TUBE DEFECTS
183090 SPINOCEREBELLAR ATAXIA 2; SCA2
183900 SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; SEDC
184757 NUCLEAR RECEPTOR SUBFAMILY 5, GROUP A, MEMBER 1; NR5A1
185200 STRIAE DISTENSAE, FAMILIAL
186790 CD3 ANTIGEN, DELTA SUBUNIT; CD3D
186930 T-CELL ANTIGEN RECEPTOR, BETA SUBUNIT; TCRB
187300 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER;
187600 THANATOPHORIC DYSPLASIA, TYPE I; TD1
188000 THROMBOCYTOPENIA 2; THC2
189800 PREECLAMPSIA/ECLAMPSIA 1; PEE1
190030 V-FES FELINE SARCOMA VIRAL/V-FPS FUJINAMI AVIAN SARCOMA VIRAL ONCOGENE
190350 TRICHORHINOPHALANGEAL SYNDROME, TYPE I; TRPS1
190450 TRIOSEPHOSPHATE ISOMERASE 1; TPI1
190685 DOWN SYNDROME
233690 GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE
480000 SEX-DETERMINING REGION Y; SRY
600005 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, TRANSACTIVATOR; MHC2TA
600105 RETINITIS PIGMENTOSA 12; RP12
600185 BRCA2 GENE; BRCA2
601253 CAVEOLIN 3; CAV3
601373 CHEMOKINE, CC MOTIF, RECEPTOR 5; CCR5
603023 IKAROS FAMILY ZINC FINGER 1; IKZF1
604210 CRUMBS, DROSOPHILA, HOMOLOG OF, 1; CRB1
605686 IMMUNOGLOBULIN SUPERFAMILY, MEMBER 4; IGSF4
605943 GLYCEROPHOSPHODIESTER PHOSPHODIESTERASE 1; GDE1
605998 HCLS1-ASSOCIATED PROTEIN X1; HAX1
606463 GLUCOSIDASE, BETA, ACID; GBA
607462 ATROPHIN 1; ATN1
607761 KIN OF IRRE-LIKE 3; KIRREL3
608160 SRY-BOX 9; SOX9
608508 CYTOCHROME b(-245), ALPHA SUBUNIT; CYBA
610738 NEUTROPENIA, SEVERE CONGENITAL, AUTOSOMAL RECESSIVE 3; SCN3

February 6, 2009

New Entries:

612555 BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2; BROVCA2
612583 SPINSTER, DROSOPHILA, HOMOLOG OF, 1; SPNS1
612584 SPINSTER, DROSOPHILA, HOMOLOG OF, 2; SPNS2
612585 CLPTM1-LIKE PROTEIN; CLPTM1L
612588 BCL2-ASSOCIATED TRANSCRIPTION FACTOR 1; BCLAF1

Changed Entries:

106165 ANGIOTENSIN RECEPTOR 1; AGTR1
113705 BREAST CANCER 1 GENE; BRCA1
114480 BREAST CANCER
116806 CATENIN, BETA-1; CTNNB1
125700 DIABETES INSIPIDUS, NEUROHYPOPHYSEAL
131200 ENDOMETRIOSIS, SUSCEPTIBILITY TO, 1
137215 GASTRIC CANCER
162400 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE I; HSAN1
164759 MOVED TO 167000
164870 V-ERB-B2 AVIAN ERYTHROBLASTIC LEUKEMIA VIRAL ONCOGENE HOMOLOG 2; ERBB2
167000 OVARIAN CANCER
167800 PANCREATITIS, HEREDITARY; PCTT
168000 PARAGANGLIOMAS 1; PGL1
168360 EMBRYONIC LETHAL, ABNORMAL VISION, DROSOPHILA, HOMOLOG-LIKE 4; ELAVL4
168830 PASSOVOY FACTOR
169300 PECTUS EXCAVATUM
169610 PEMPHIGUS VULGARIS, FAMILIAL
170500 HYPERKALEMIC PERIODIC PARALYSIS; HYPP
171100 PHAGOCYTOSIS, PLASMA-RELATED DEFECT IN
171720 ALKALINE PHOSPHATASE, PLASMA LEVEL OF, QUANTITATIVE TRAIT LOCUS 1
171834 PHOSPHATIDYLINOSITOL 3-KINASE, CATALYTIC, ALPHA; PIK3CA
173100 PITUITARY DWARFISM DUE TO ISOLATED GROWTH HORMONE DEFICIENCY, AUTOSOMAL
173410 PLATELET-DERIVED GROWTH FACTOR RECEPTOR, BETA; PDGFRB
173900 POLYCYSTIC KIDNEYS
173910 POLYCYSTIC KIDNEY DISEASE 2; PKD2
174100 POLYDACTYLY, IMPERFORATE ANUS, AND VERTEBRAL ANOMALIES
174300 OROFACIODIGITAL SYNDROME V; OFD5
174770 ACTINIC PRURIGO
174800 MCCUNE-ALBRIGHT SYNDROME; MAS
175100 ADENOMATOUS POLYPOSIS OF THE COLON; APC
176010 PORPHYRIA, CHESTER TYPE; PORC
176100 PORPHYRIA CUTANEA TARDA
176200 PORPHYRIA VARIEGATA
176270 PRADER-WILLI SYNDROME; PWS
176300 TRANSTHYRETIN; TTR
179740 RELAXIN 2; RLN2
190020 V-HA-RAS HARVEY RAT SARCOMA VIRAL ONCOGENE HOMOLOG; HRAS
190070 V-KI-RAS2 KIRSTEN RAT SARCOMA VIRAL ONCOGENE HOMOLOG; KRAS
191306 KINASE INSERT DOMAIN RECEPTOR; KDR
192090 CADHERIN 1; CDH1
192240 VASCULAR ENDOTHELIAL GROWTH FACTOR; VEGF
192340 ARGININE VASOPRESSIN; AVP
201300 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE II; HSAN2
201470 ACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF
276300 MISMATCH REPAIR CANCER SYNDROME
300642 SUSHI REPEAT-CONTAINING PROTEIN, X-LINKED, 2; SRPX2
300643 ROLANDIC EPILEPSY, MENTAL RETARDATION, AND SPEECH DYSPRAXIA, X-LINKED;
600098 RELATED RAS VIRAL ONCOGENE HOMOLOG 2; RRAS2
600185 BRCA2 GENE; BRCA2
600632 OPIOID-BINDING PROTEIN/CELL ADHESION MOLECULE-LIKE; OPCML
600663 MADS BOX TRANSCRIPTION ENHANCER FACTOR 2, POLYPEPTIDE D; MEF2D
600678 MutS, E. COLI, HOMOLOG OF, 6; MSH6
600816 HEAT-SHOCK 70-KD PROTEIN 8; HSPA8
601728 PHOSPHATASE AND TENSIN HOMOLOG; PTEN
602194 HTRA SERINE PEPTIDASE 1; HTRA1
602544 PARKIN; PARK2
603101 CARBOXYPEPTIDASE B2, PLASMA; CPB2
603527 DPH1, S. CEREVISIAE, HOMOLOG OF; DPH1
603737 OVARIAN GERM CELL CANCER
604061 SEPTIN 9; SEPT9
604238 SNAIL, DROSOPHILA, HOMOLOG OF, 1; SNAI1
604370 BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1; BROVCA1
605232 PROTEIN KINASE, LYSINE-DEFICIENT 1; WNK1
605872 C-TYPE LECTIN DOMAIN FAMILY 4, MEMBER M; CLEC4M
606241 DICER, DROSOPHILA, HOMOLOG OF, 1; DICER1
606255 STATURE AS A QUANTITATIVE TRAIT
606852 PARKINSON DISEASE 10; PARK10
606885 ACYL-CoA DEHYDROGENASE, SHORT-CHAIN; ACADS
607893 OVARIAN CANCER, SUSCEPTIBILITY TO, 1; OVCAS1
607896 OVARIAN CANCER-ASSOCIATED GENE 2
608620 MOVED TO 605232
608828 RIBONUCLEASE III, NUCLEAR; RNASEN
612226 STATURE QUANTITATIVE TRAIT LOCUS 13; STQTL13
612228 STATURE QUANTITATIVE TRAIT LOCUS 14; STQTL14
Clinical Synopsis for 201300 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE II; HSAN2
Clinical Synopsis for 300388 POLYMICROGYRIA, BILATERAL PERISYLVIAN; BPP

February 5, 2009

Changed Entries:

106180 ANGIOTENSIN I-CONVERTING ENZYME; ACE
123910 GRANZYME B; GZMB
125853 DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM
129850 EDINBURGH MALFORMATION SYNDROME
147556 INTEGRIN, ALPHA-6; ITGA6
147557 INTEGRIN, BETA-4; ITGB4
156000 MENIERE DISEASE
156560 METHIONYL-tRNA SYNTHETASE; MARS
162642 NEUROPEPTIDE Y RECEPTOR Y2; NPY2R
164343 EARLY B-CELL FACTOR; EBF
168000 PARAGANGLIOMAS 1; PGL1
176871 PROTEIN KINASE, INTERFERON-INDUCIBLE DOUBLE-STRANDED RNA-ACTIVATED;
180073 PHOSPHODIESTERASE 6G, cGMP-SPECIFIC, ROD, GAMMA; PDE6G
180645 SMALL NUCLEOLAR RNA, H/ACA BOX, 73A; SNORA73A
182590 TREFOIL FACTOR 2; TFF2
186930 T-CELL ANTIGEN RECEPTOR, BETA SUBUNIT; TCRB
189967 TEA DOMAIN FAMILY MEMBER 1; TEAD1
191092 TSC2 GENE; TSC2
218340 CRANIOFACIAL DYSMORPHISM WITH OCULAR COLOBOMA, ABSENT CORPUS CALLOSUM,
226730 EPIDERMOLYSIS BULLOSA JUNCTIONALIS WITH PYLORIC ATRESIA
233690 GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE
238970 HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA SYNDROME
276903 MYOSIN VIIA; MYO7A
300097 MELANOMA ANTIGEN, FAMILY B, 1; MAGEB1
300098 MELANOMA ANTIGEN, FAMILY B, 2; MAGEB2
600012 UBIQUITIN-CONJUGATING ENZYME E2L 1; UBE2L1
600023 CADHERIN 11; CDH11
600220 PHOSPHOLIPASE C, GAMMA-2; PLCG2
600596 MICROFIBRILLAR-ASSOCIATED PROTEIN 4; MFAP4
600698 HIGH MOBILITY GROUP AT-HOOK 2; HMGA2
601806 MINICHROMOSOME MAINTENANCE, S. POMBE, HOMOLOG OF, 6; MCM6
603196 COCHLIN; COCH
603861 SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER, ORNITHINE TRANSPORTER),
604498 AMEGAKARYOCYTIC THROMBOCYTOPENIA, CONGENITAL; CAMT
605032 COMPLEXIN 1; CPLX1
605441 ADIPOCYTE-, C1q-, AND COLLAGEN DOMAIN-CONTAINING; ADIPOQ
606641 BODY MASS INDEX; BMI
607462 ATROPHIN 1; ATN1
610443 CHROMOSOME 17q21.31 MICRODELETION SYNDROME
612243 G PROTEIN-COUPLED RECEPTOR 126; GPR126
612556 ADIPONECTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1; ADIPQTL1
612579 STATURE QUANTITATIVE TRAIT LOCUS 16; STQTL16

February 4, 2009

Changed Entries:

102582 SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 3; STAT3
103830 ALDO-KETO REDUCTASE FAMILY 1, MEMBER A1; AKR1A1
104613 CHAPERONIN CONTAINING T-COMPLEX POLYPEPTIDE 1, SUBUNIT 6A; CCT6A
118945 CILIARY NEUROTROPHIC FACTOR; CNTF
121011 GAP JUNCTION PROTEIN, BETA-2; GJB2
123828 CYCLIN-DEPENDENT KINASE 3; CDK3
125265 RECEPTOR EXPRESSION-ENHANCING PROTEIN 5; REEP5
126375 DNA METHYLTRANSFERASE 1; DNMT1
128240 UTROPHIN; UTRN
133430 ESTROGEN RECEPTOR 1; ESR1
141900 HEMOGLOBIN--BETA LOCUS; HBB
147435 INDOLEAMINE 2,3-DIOXYGENASE; INDO
147620 INTERLEUKIN 6; IL6
156790 MICROFIBRILLAR-ASSOCIATED PROTEIN 2; MFAP2
163950 NOONAN SYNDROME 1; NS1
164750 OMPHALOCELE
166200 OSTEOGENESIS IMPERFECTA, TYPE I
166210 OSTEOGENESIS IMPERFECTA, TYPE IIA
166950 TERATOMA, OVARIAN
167030 NEPHROLITHIASIS, CALCIUM OXALATE
176883 PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 6; PTPN6
600121 RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 3; RCDP3
600286 PHOSPHATIDYLINOSITOL 4-KINASE, CATALYTIC, ALPHA; PI4KA
600491 MICROFIBRILLAR-ASSOCIATED PROTEIN 3; MFAP3
600756 PROTEIN PHOSPHATASE 2, REGULATORY SUBUNIT B-PRIME; PPP2R4
600914 SPLICING FACTOR, ARGININE/SERINE-RICH, 5; SFRS5
601103 MICROFIBRILLAR-ASSOCIATED PROTEIN 5; MFAP5
601112 THIOREDOXIN REDUCTASE 1; TXNRD1
601120 CADHERIN 5; CDH5
601167 PURINERGIC RECEPTOR P2Y, G PROTEIN-COUPLED, 1; P2RY1
601241 HISTONE DEACETYLASE 1; HDAC1
601266 dUTP PYROPHOSPHATASE; DUT
601335 MITOGEN-ACTIVATED PROTEIN KINASE KINASE 4; MAP2K4
601364 CADHERIN 13; CDH13
601512 SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 6; STAT6
601646 PROTEIN PHOSPHATASE 2, REGULATORY SUBUNIT B (B56), DELTA; PPP2R5D
601647 PROTEIN PHOSPHATASE 2, REGULATORY SUBUNIT B (B56), EPSILON; PPP2R5E
601912 SMALL UBIQUITIN-LIKE MODIFIER 1; SUMO1
601951 CDC-LIKE KINASE 1; CLK1
602139 NADH-UBIQUINONE OXIDOREDUCTASE 1 ALPHA SUBCOMPLEX, 7; NDUFA7
602149 PAIRED-LIKE HOMEODOMAIN TRANSCRIPTION FACTOR 1; PITX1
602162 SYNAPTONEMAL COMPLEX PROTEIN 1; SYCP1
602229 SRY-BOX 10; SOX10
602231 SMALL UBIQUITIN-LIKE MODIFIER 3; SUMO3
602341 FORKHEAD, DROSOPHILA, HOMOLOG-LIKE 16; FKHL16
602508 PLATELET-ACTIVATING FACTOR ACETYLHYDROLASE, ISOFORM 1B, BETA SUBUNIT;
602672 RAS-ASSOCIATED PROTEIN RAB13; RAB13
602678 MAP/MICROTUBULE AFFINITY-REGULATING KINASE 3; MARK3
602877 PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 7; PPP1R7
603004 GLIOBLASTOMA AMPLIFIED SEQUENCE; GBAS
603035 INTERLEUKIN 16; IL16
603261 PHOSPHATIDYLINOSITOL-4-PHOSPHATE 5-KINASE, TYPE II, BETA; PIP5K2B
603594 TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 4; TNFSF4
603598 TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 10; TNFSF10
604434 KALLIKREIN-RELATED PEPTIDASE 11; KLK11
604438 KALLIKREIN-RELATED PEPTIDASE 7; KLK7
605315 HISTONE DEACETYLASE 5; HDAC5
605507 INTERLEUKIN 1 FAMILY, MEMBER 5; IL1F5
605539 KALLIKREIN-RELATED PEPTIDASE 12; KLK12
606673 BETA-UREIDOPROPIONASE; UPB1
608736 SOLUTE CARRIER FAMILY 39 (ZINC TRANSPORTER), MEMBER 14; SLC39A14
610142 CENTROSOMAL PROTEIN, 290-KD; CEP290
612570 FIBRILLIN 2; FBN2

February 3, 2009

New Entries:

612578 STATURE QUANTITATIVE TRAIT LOCUS 15; STQTL15
612579 STATURE QUANTITATIVE TRAIT LOCUS 16; STQTL 16

Changed Entries:

102800 ADENOSINE TRIPHOSPHATASE DEFICIENCY, ANEMIA DUE TO
104170 N-ACETYL-ALPHA-D-GALACTOSAMINIDASE; NAGA
104200 ALPORT SYNDROME, AUTOSOMAL DOMINANT
105150 AMYLOIDOSIS VI
106070 ANGIOMA, HEREDITARY NEUROCUTANEOUS
106300 SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1; SPDA1
107730 APOLIPOPROTEIN B; APOB
107750 ARBITRARY RESTRICTION POLYMORPHISM 1
107776 AQUAPORIN 1; AQP1
108800 ATRIAL SEPTAL DEFECT 1; ASD1
109730 AORTIC VALVE DISEASE
110450 BLOOD GROUP--COLTON; CO
112500 BRACHYDACTYLY, TYPE A1; BDA1
114050 CALBINDIN 1; CALB1
114130 CALCITONIN/CALCITONIN-RELATED POLYPEPTIDE, ALPHA; CALCA
114290 CAMPOMELIC DYSPLASIA
115200 CARDIOMYOPATHY, DILATED, 1A; CMD1A
116860 CEREBRAL CAVERNOUS MALFORMATIONS; CCM
116920 LEUKOCYTE ADHESION DEFICIENCY, TYPE I; LAD
118430 CHLORPROPAMIDE-ALCOHOL FLUSHING; CPAF
120820 COMPLEMENT COMPONENT 4B; C4B
123000 CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT; CMDD
123260 C-REACTIVE PROTEIN, PENTRAXIN-RELATED; CRP
123885 S100 CALCIUM-BINDING PROTEIN A8; S100A8
125310 CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS
126180 DISCRIMINATION, TWO-POINT, REDUCTION IN
130650 BECKWITH-WIEDEMANN SYNDROME; BWS
136000 FINGERPRINTS, ABSENCE OF
136820 FUCOSIDASE, ALPHA-L, 2; FUCA2
137800 GLIOMA OF BRAIN, FAMILIAL
138250 ALDEHYDE DEHYDROGENASE 18 FAMILY, MEMBER A1; ALDH18A1
139190 GROWTH HORMONE-RELEASING HORMONE; GHRH
139200 GROUP-SPECIFIC COMPONENT; GC
141850 HEMOGLOBIN--ALPHA LOCUS 2; HBA2
142700 ACETABULAR DYSPLASIA
143500 GILBERT SYNDROME
146500 HYPOTENSION, ORTHOSTATIC
146900 IgA CONSTANT HEAVY CHAIN 1; IGHA1
147050 IgE RESPONSIVENESS, ATOPIC; IGER
147060 HYPERIMMUNOGLOBULIN E RECURRENT INFECTION SYNDROME, AUTOSOMAL DOMINANT
147450 SUPEROXIDE DISMUTASE 1; SOD1
147510 INSULIN-RELATED DNA POLYMORPHISM; IRDN
147540 INSECT STINGS, HYPERSENSITIVITY TO
147660 INTERFERON, ALPHA-1; IFNA1
149400 HYPEREKPLEXIA, HEREDITARY
160900 DYSTROPHIA MYOTONICA 1
161200 NAIL-PATELLA SYNDROME; NPS
162400 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE I; HSAN1
162500 NEUROPATHY, HEREDITARY, WITH LIABILITY TO PRESSURE PALSIES; HNPP
164177 POU DOMAIN, CLASS 5, TRANSCRIPTION FACTOR 1; POU5F1
167870 PANIC DISORDER 1; PAND1
180071 PHOSPHODIESTERASE 6A, cGMP-SPECIFIC, ROD, ALPHA; PDE6A
180901 RYANODINE RECEPTOR 1; RYR1
181500 SCHIZOPHRENIA; SCZD
182230 SEPTOOPTIC DYSPLASIA
200600 ACHONDROGENESIS, TYPE IA; ACG1A
200610 ACHONDROGENESIS, TYPE II; ACG2
200710 MOVED TO 200610
200720 MOVED TO 200610
232400 GLYCOGEN STORAGE DISEASE III
252150 MOLYBDENUM COFACTOR DEFICIENCY
257200 NIEMANN-PICK DISEASE, TYPE A
300042 ALOPECIA, CONGENITAL
300136 DIABETES MELLITUS, INSULIN-DEPENDENT, X-LINKED, SUSCEPTIBILITY TO
300144 GLUTAMATE DEHYDROGENASE 2; GLUD2
300159 THYMOSIN, BETA-4, X CHROMOSOME; TMSB4X
300290 INTRAUTERINE GROWTH RETARDATION, METAPHYSEAL DYSPLASIA, ADRENAL HYPOPLASIA
300414 PHD FINGER PROTEIN 6; PHF6
400004 RETINITIS PIGMENTOSA, Y-LINKED; RPY
600685 KARYOPHERIN ALPHA-2; KPNA2
600972 ACHONDROGENESIS, TYPE IB; ACG1B
601137 GUANYLYL CYCLASE, MEMBRANE, TYPE D, MURINE
601661 UBIQUITIN-CONJUGATING ENZYME E2I; UBE2I
601887 MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5
601893 TRIPLE FUNCTIONAL DOMAIN; TRIO
602275 GUANYLATE CYCLASE ACTIVATOR 1B; GUCA1B
602566 PURINERGIC RECEPTOR P2X, LIGAND-GATED ION CHANNEL, 7; P2RX7
603178 METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE; MMSDH
603368 CYCLIN-DEPENDENT KINASE 6; CDK6
603707 MOLYBDENUM COFACTOR SYNTHESIS GENE 1; MOCS1
603708 MOLYBDENUM COFACTOR SYNTHESIS GENE 2; MOCS2
604931 CORTISONE REDUCTASE DEFICIENCY
605329 MOVED TO 605205
605334 MOVED TO 300290
605642 THYROID CARCINOMA, PAPILLARY, WITH PAPILLARY RENAL NEOPLASIA
606178 HEDGEHOG-INTERACTING PROTEIN; HHIP
606255 STATURE AS A QUANTITATIVE TRAIT
606718 SOLUTE CARRIER FAMILY 26 (SULFATE TRANSPORTER), MEMBER 2; SLC26A2
608447 CAROTID INTIMAL MEDIAL THICKNESS 2
611547 STATURE QUANTITATIVE TRAIT LOCUS 9; STQTL9
611797 UBIQUINOL-CYTOCHROME C REDUCTASE COMPLEX CHAPERONE; UQCC
611799 LIGAND-DEPENDENT NUCLEAR RECEPTOR COREPRESSOR-LIKE PROTEIN; LCORL
611920 C-REACTIVE PROTEIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1; CRPQTL1
612218 ZINC FINGER- AND BTB DOMAIN-CONTAINING PROTEIN 38; ZBTB38
612221 STATURE QUANTITATIVE TRAIT LOCUS 10; STQTL10
612223 STATURE QUANTITATIVE TRAIT LOCUS 11; STQTL11
612224 STATURE QUANTITATIVE TRAIT LOCUS 12; STQTL12
612226 STATURE QUANTITATIVE TRAIT LOCUS 13; STQTL13
612228 STATURE QUANTITATIVE TRAIT LOCUS 14; STQTL14
612480 TCDD-INDUCIBLE POLY(ADP-RIBOSE) POLYMERASE; TIPARP
612523 IQ MOTIF-CONTAINING PROTEIN H: IQCH
612556 ADIPONECTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1; ADIPQTL1
612570 FIBRILLIN 2; FBN2
Clinical Synopsis for 106490 ANNEXIN A3; ANXA3
Clinical Synopsis for 106491 ANNEXIN A4; ANXA4
Clinical Synopsis for 107290 ANTIPYRINE METABOLISM
Clinical Synopsis for 300624 FRAGILE X MENTAL RETARDATION SYNDROME
Clinical Synopsis for 600186 MOVED TO 300016

February 2, 2009

New Entries:

612556 ADIPONECTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1; ADIPQTL1
612569 CELL DIVISION CYCLE AND APOPTOSIS REGULATOR 1; CCAR1
612570 FIBRILLIN 2; FBN2
612576 SPLIT-HAND/FOOT MALFORMATION WITH LONG BONE DEFICIENCY 3; SHFLD3

Changed Entries:

104760 AMYLOID BETA A4 PRECURSOR PROTEIN; APP
105800 ANEURYSM, INTRACRANIAL BERRY, 1
106165 ANGIOTENSIN RECEPTOR 1; AGTR1
113100 BRACHYDACTYLY, TYPE C; BDC
114830 CARBONYL REDUCTASE 1; CBR1
117550 SOTOS SYNDROME
119100 SPLIT-HAND/FOOT MALFORMATION WITH LONG BONE DEFICIENCY 1; SHFLD1
120215 COLLAGEN, TYPE V, ALPHA-1; COL5A1
121050 CONTRACTURAL ARACHNODACTYLY, CONGENITAL; CCA
123695 PHOSPHATE CYTIDYLYLTRANSFERASE 1, CHOLINE, ALPHA ISOFORM; PCYT1A
125485 DENTIN SIALOPHOSPHOPROTEIN; DSPP
125853 DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM
126060 DIHYDROFOLATE REDUCTASE; DHFR
133430 ESTROGEN RECEPTOR 1; ESR1
136350 FIBROBLAST GROWTH FACTOR RECEPTOR 1; FGFR1
138322 GLUTATHIONE PEROXIDASE 4; GPX4
138965 CHEMOKINE, CXC MOTIF, LIGAND 6; CXCL6
143100 HUNTINGTON DISEASE; HD
147678 CASPASE 1, APOPTOSIS-RELATED CYSTEINE PROTEASE; CASP1
147720 INTERLEUKIN 1-BETA; IL1B
154400 ACROFACIAL DYSOSTOSIS 1, NAGER TYPE; AFD1
154700 MARFAN SYNDROME; MFS
159900 MYOCLONIC DYSTONIA
161561 INTERLEUKIN 12B; IL12B
164050 NUCLEOSIDE PHOSPHORYLASE; NP
166945 NEIGHBOR OF BRCA1 GENE 1; NBR1
173335 ECTONUCLEOTIDE PYROPHOSPHATASE/PHOSPHODIESTERASE 1; ENPP1
173900 POLYCYSTIC KIDNEYS
175100 ADENOMATOUS POLYPOSIS OF THE COLON; APC
176640 PRION PROTEIN; PRNP
177900 PSORIASIS SUSCEPTIBILITY 1; PSORS1
179600 RAYNAUD DISEASE
179618 RECOVERIN; RCV1
180200 RETINOBLASTOMA; RB1
180202 JUMONJI, AT-RICH INTERACTIVE DOMAIN 1A; JARID1A
181000 SARCOIDOSIS, SUSCEPTIBILITY TO, 1; SS1
181590 SCL-INTERRUPTING LOCUS; SIL
191170 TUMOR PROTEIN p53; TP53
191191 TUMOR NECROSIS FACTOR RECEPTOR SUBFAMILY, MEMBER 1B; TNFRSF1B
191290 TYROSINE HYDROXYLASE; TH
200110 ABLEPHARON-MACROSTOMIA SYNDROME
208400 ASPARTYLGLUCOSAMINURIA
211750 C SYNDROME
212065 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia; CDG1A
217000 COMPLEMENT COMPONENT 2 DEFICIENCY
222300 WOLFRAM SYNDROME 1; WFS1
227810 FANCONI-BICKEL SYNDROME; FBS
230400 GALACTOSEMIA
234100 HALLERMANN-STREIFF SYNDROME; HSS
235200 HEMOCHROMATOSIS; HFE
238600 HYPERLIPOPROTEINEMIA, TYPE I
250950 3-@METHYLGLUTACONIC ACIDURIA, TYPE I
259720 OSTEOPETROSIS, AUTOSOMAL RECESSIVE 5; OPTB5
261600 PHENYLKETONURIA; PKU
267750 KNOBLOCH SYNDROME, TYPE I
276000 PROTEASE, SERINE, 1; PRSS1
300024 ZINC FINGER PROTEIN 157; ZNF157
300149 CBP/p300-INTERACTING TRANSACTIVATOR WITH GLU/ASP-RICH C-TERMINAL DOMAIN,
300300 BRUTON AGAMMAGLOBULINEMIA TYROSINE KINASE; BTK
300336 NEUROLIGIN 3; NLGN3
300557 PARKINSON DISEASE 12
301845 BAZEX SYNDROME; BZX
306190 MOVED TO 300200
312870 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1; SGBS1
314200 THYROXINE-BINDING GLOBULIN OF SERUM; TBG
600007 FMS-RELATED TYROSINE KINASE 3 LIGAND; FLT3LG
600140 CREB-BINDING PROTEIN; CREBBP
600215 MICROFIBRILLAR-ASSOCIATED PROTEIN 1; MFAP1
600398 ZINC FINGER PROTEIN 160; ZNF160
600403 FIBROBLAST ACTIVATION PROTEIN, ALPHA; FAP
600475 TAF10 RNA POLYMERASE II, TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR,
600491 MICROFIBRIL-ASSOCIATED PROTEIN 3; MFAP3
600583 TEC PROTEIN TYROSINE KINASE; TEC
600701 HIGH MOBILITY GROUP AT-HOOK 1; HMGA1
600733 INSULIN PROMOTER FACTOR 1; IPF1
600797 INSULIN RECEPTOR SUBSTRATE 2; IRS2
600920 VAN DEN ENDE-GUPTA SYNDROME; VDEGS
601032 PROTEIN KINASE N1; PKN1
601269 COMPLEMENT COMPONENT C1q-BINDING PROTEIN; C1QBP
601321 NEUROFIBROMATOSIS-NOONAN SYNDROME; NFNS
601460 SOLUTE CARRIER ORGANIC ANION TRANSPORTER FAMILY, MEMBER 2A1; SLCO2A1
601467 MITOTIC ARREST-DEFICIENT 2, S. CEREVISIAE, HOMOLOG-LIKE 1; MAD2L1
601548 EGF-CONTAINING FIBULIN-LIKE EXTRACELLULAR MATRIX PROTEIN 1; EFEMP1
601584 PROTEIN-TYROSINE PHOSPHATASE, TYPE 4A, 2; PTP4A2
601713 GLIA MATURATION FACTOR, BETA; GMFB
601805 G PROTEIN-COUPLED RECEPTOR 30; GPR30
601807 MATRIX METALLOPROTEINASE 19; MMP19
601866 SEMAPHORIN 4D; SEMA4D
601946 MOVED TO 601531
601962 TAP-BINDING PROTEIN; TAPBP
602312 MOVED TO 142711
602421 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR
602495 CHEMOKINE, CC MOTIF, LIGAND 24; CCL24
602557 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SHOHAT TYPE
602565 CHEMOKINE, CC MOTIF, LIGAND 25; CCL25
602585 MICROCEPHALY AND DIGITAL ABNORMALITIES WITH NORMAL INTELLIGENCE
602681 FORKHEAD BOX O3A; FOXO3A
602836 PURINERGIC RECEPTOR P2X, LIGAND-GATED ION CHANNEL, 5; P2RX5
602958 SERUM/GLUCOCORTICOID-REGULATED KINASE 1; SGK1
603029 TOLL-LIKE RECEPTOR 3; TLR3
603192 ATP SYNTHASE, H+ TRANSPORTING, MITOCHONDRIAL F0 COMPLEX, SUBUNIT C,
603254 SWI/SNF-RELATED, MATRIX-ASSOCIATED, ACTIN-DEPENDENT REGULATOR OF CHROMATIN,
603598 TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 10; TNFSF10
603718 CLAUDIN 1; CLDN1
603862 CYCLIN T2; CCNT2
604039 MENINGIOMA-EXPRESSED ANTIGEN 5; MGEA5
604607 HOMEOBOX B13; HOXB13
604811 LEUKOCYTE IMMUNOGLOBULIN-LIKE RECEPTOR, SUBFAMILY B, MEMBER 1; LILRB1
604958 ACTIN-LIKE 6A; ACTL6A
605248 MUCOLIPIN 1; MCOLN1
605390 LEUPAXIN; LPXN
605441 ADIPOCYTE-, C1q-, AND COLLAGEN DOMAIN-CONTAINING; ADIPOQ
605614 GENERAL CONTROL OF AMINO ACID SYNTHESIS 1, YEAST, HOMOLOG-LIKE 1;
605631 NAPSIN A
605638 BACULOVIRAL IAP REPEAT-CONTAINING PROTEIN 6; BIRC6
606059 PROTEIN KINASE, cAMP-DEPENDENT CATALYTIC, INHIBITOR ALPHA; PKIA
606075 CHROMOSOME 10 OPEN READING FRAME 2; C10ORF2
606504 CANCER SUSCEPTIBILITY CANDIDATE 3; CASC3
606641 BODY MASS INDEX; BMI
606770 ADIPONECTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 2; ADIPQTL2
606771 ADIPONECTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 3; ADIPQTL3
606924 MOVED TO 300748
607086 AORTIC ANEURYSM, FAMILIAL THORACIC 1; AAT1
607132 LARYNGEAL ATRESIA, ENCEPHALOCELE, AND LIMB DEFORMITIES
607344 TUBULIN, DELTA-1
607623 NPC1 GENE; NPC1
607929 CCM2 GENE; CCM2
608285 NAD SYNTHETASE 1; NADSYN1
608529 FIBRILLIN 3; FBN3
608634 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB; HMN2B
609688 MICRO RNA 196B; MIRN196B
609813 SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 3; SCDO3
610085 FAMILY WITH SEQUENCE SIMILARITY 167, MEMBER A; FAM167A
610262 HYPERTENSION, ESSENTIAL, SUSCEPTIBILITY TO, 6
610380 LOEYS-DIETZ SYNDROME, TYPE 2B; LDS2B
610438 RESTLESS LEGS SYNDROME, SUSCEPTIBILITY TO, 3
611031 EPISODIC KINESIGENIC DYSKINESIA 2; EKD2
611720 CHROMOSOME 14 OPEN READING FRAME 4; C14ORF4
612187 HEME-RESPONSIVE GENE 1
612424 EYES SHUT, DROSOPHILA, HOMOLOG OF; EYS
612570 FIBRILLIN 2; FBN2
Clinical Synopsis for 115150 CARDIOFACIOCUTANEOUS SYNDROME
Clinical Synopsis for 117550 SOTOS SYNDROME
Clinical Synopsis for 118100 KLIPPEL-FEIL SYNDROME, AUTOSOMAL DOMINANT
Clinical Synopsis for 129900 ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME
Clinical Synopsis for 131300 CAMURATI-ENGELMANN DISEASE
Clinical Synopsis for 182212 SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
Clinical Synopsis for 207750 APOLIPOPROTEIN C-II DEFICIENCY
Clinical Synopsis for 216550 COHEN SYNDROME; COH1
Clinical Synopsis for 234100 HALLERMANN-STREIFF SYNDROME; HSS
Clinical Synopsis for 235730 MOWAT-WILSON SYNDROME
Clinical Synopsis for 256050 ATELOSTEOGENESIS, TYPE II; AOII
Clinical Synopsis for 258870 ORNITHINE AMINOTRANSFERASE DEFICIENCY
Clinical Synopsis for 268020 RETINITIS PIGMENTOSA, DEAFNESS, MENTAL RETARDATION, AND HYPOGONADISM
Clinical Synopsis for 277580 WAARDENBURG-SHAH SYNDROME
Clinical Synopsis for 300243 MENTAL RETARDATION, X-LINKED, SYNDROMIC, CHRISTIANSON TYPE
Clinical Synopsis for 300299 NEUTROPENIA, SEVERE CONGENITAL, X-LINKED; XLN
Clinical Synopsis for 305100 ECTODERMAL DYSPLASIA, HYPOHIDROTIC, X-LINKED; XHED
Clinical Synopsis for 306190 MOVED TO 300200
Clinical Synopsis for 311250 ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO
Clinical Synopsis for 516000 COMPLEX I, SUBUNIT ND1; MTND1
Clinical Synopsis for 600512 EPILEPSY, LATERAL TEMPORAL LOBE, AUTOSOMAL DOMINANT; ADLTE
Clinical Synopsis for 605685 CUTIS VERTICIS GYRATA, RETINITIS PIGMENTOSA, AND SENSORINEURAL DEAFNESS
Clinical Synopsis for 607602 ICHTHYOSIS, CYCLIC, WITH EPIDERMOLYTIC HYPERKERATOSIS
Clinical Synopsis for 607706 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, WITH VOCAL CORD PARESIS, AUTOSOMAL
Clinical Synopsis for 610168 LOEYS-DIETZ SYNDROME, TYPE 1B; LDS1B
Clinical Synopsis for 610233 HYPEROSTOSIS-HYPERPHOSPHATEMIA SYNDROME; HHS

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