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inserted disease: 607084 OMIM #607084 DEAFNESS, AUTOSOMAL RECESSIVE 31; DFNB31;;WHIRLER, MOUSE, HOMOLOG OF
id in db is: 295686
inserted disease: 614021 OMIM %614021 VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 3; CPVT3
id in db is: 295687
inserted disease: 252010 OMIM #252010 MITOCHONDRIAL COMPLEX I DEFICIENCY;;NADH:Q(1) OXIDOREDUCTASE DEFICIENCY;;NADH-COENZYME Q REDUCTASE DEFICIENCY;;MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCYOF
id in db is: 295688
inserted disease: 254400 OMIM MYCOSIS FUNGOIDES
id in db is: 295689
inserted disease: 1455 ORPHA Autosomal dominant coarctation of aorta
id in db is: 295690
inserted disease: 614970 OMIM #614970 JOUBERT SYNDROME 20; JBTS20
id in db is: 295691
inserted disease: 207770 OMIM APROSENCEPHALY SYNDROME
id in db is: 295692
inserted disease: 306300 OMIM GRANULOMAS, CONGENITAL CEREBRAL
id in db is: 295693
inserted disease: 615420 OMIM #615420 MYOPIA 22, AUTOSOMAL DOMINANT; MYP22
id in db is: 295694
inserted disease: 83469 ORPHA Desmoplastic small round cell tumor
id in db is: 295695
inserted disease: 126700 OMIM BASAL LAMINAR DRUSEN
id in db is: 295696
inserted disease: 612529 OMIM #612529 AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA2; AI2A2;;AMELOGENESIS IMPERFECTA, PIGMENTED HYPOMATURATION TYPE, 2
id in db is: 295697
inserted disease: 601682 OMIM GLAUCOMA 1, OPEN ANGLE, C
id in db is: 295698
inserted disease: 615042 OMIM #615042 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iu; CDG1U;;CDG Iu; CDGIu
id in db is: 295699
inserted disease: 136 ORPHA CADASIL
id in db is: 295700
inserted disease: 300510 OMIM #300510 OVARIAN DYSGENESIS 2; ODG2;;OVARIAN DYSGENESIS, HYPERGONADOTROPIC, X-LINKED;;OVARIAN FAILURE, HYPERGONADOTROPIC, DUE TO OVARIAN DYSGENESISPREMATURE OVARIAN FAILURE 4, INCLUDED; POF4, INCLUDED
id in db is: 295701
inserted disease: 614114 OMIM MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2; MVA2
id in db is: 295702
inserted disease: 612539 OMIM SPASTIC PARAPLEGIA 42, AUTOSOMAL DOMINANT; SPG42
id in db is: 295703
inserted disease: 612653 OMIM #612653 SPHEROCYTOSIS, TYPE 4; SPH4;;SPHEROCYTOSIS, HEREDITARY, 4; HS4
id in db is: 295704
inserted disease: 193300 OMIM #193300 VON HIPPEL-LINDAU SYNDROME; VHLVON HIPPEL-LINDAU SYNDROME, MODIFIERS OF, INCLUDED
id in db is: 295705
inserted disease: 614929 OMIM %614929 ECTODERMAL DYSPLASIA 7, HAIR/NAIL TYPE; ECTD7
id in db is: 295706
inserted disease: 192600 OMIM #192600 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1; CMH1;;CMH;;VENTRICULAR HYPERTROPHY, HEREDITARY;;ASYMMETRIC SEPTAL HYPERTROPHY; ASH;;HYPERTROPHIC SUBAORTIC STENOSIS, IDIOPATHIC
id in db is: 295707
inserted disease: 102100 OMIM %102100 ACROMEGALOID CHANGES, CUTIS VERTICIS GYRATA, AND CORNEAL LEUKOMA;;ROSENTHAL-KLOEPFER SYNDROME
id in db is: 295708
inserted disease: 170 ORPHA Woolly hair
id in db is: 295709
inserted disease: 277300 OMIM SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 1
id in db is: 295710
inserted disease: 305620 OMIM FRONTOMETAPHYSEAL DYSPLASIA
id in db is: 295711
inserted disease: 616364 OMIM #616364 MENTAL RETARDATION, AUTOSOMAL DOMINANT 37; MRD37
id in db is: 295712
inserted disease: 192315 OMIM #192315 VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHY; RVCL;;CEREBRORETINAL VASCULOPATHY, HEREDITARY; CRV;;RETINOPATHY, VASCULAR, WITH CEREBRAL AND RENAL INVOLVEMENT AND RAYNAUDAND MIGRAINE PHENOMENA
id in db is: 295713
inserted disease: 764 ORPHA Pyomyositis
id in db is: 295714
inserted disease: 85112 ORPHA Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome
id in db is: 295715
inserted disease: 300496 OMIM AUTISM, SUSCEPTIBILITY TO, X-LINKED 3; AUTSX3
id in db is: 295716
inserted disease: 821 ORPHA Sotos syndrome
id in db is: 295717
inserted disease: 180550 OMIM #180550 RING DERMOID OF CORNEA; RDC
id in db is: 295718
inserted disease: 616307 OMIM SENIOR-LOKEN SYNDROME 8; SLSN8
id in db is: 295719
inserted disease: 99893 ORPHA ACTH-independent Cushing syndrome
id in db is: 295720
inserted disease: 212400 OMIM CATARACT AND CONGENITAL ICHTHYOSIS
id in db is: 295721
inserted disease: 262875 OMIM PLATELET PROSTACYCLIN RECEPTOR DEFECT
id in db is: 295722
inserted disease: 609808 OMIM HAMARTOMA, PRECALCANEAL CONGENITAL FIBROLIPOMATOUS
id in db is: 295723
inserted disease: 93388 ORPHA Brachydactyly type A1
id in db is: 295724
inserted disease: 169170 OMIM 169170 PATTERSON PSEUDOLEPRECHAUNISM SYNDROME
id in db is: 295725
inserted disease: 188580 OMIM THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1; TTPP1
id in db is: 295726
inserted disease: 300934 OMIM CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iy; CDG1Y
id in db is: 295727
inserted disease: 208230 OMIM ARTHROPATHY, PROGRESSIVE PSEUDORHEUMATOID, OF CHILDHOOD
id in db is: 295728
inserted disease: 615363 OMIM ESTROGEN RESISTANCE; ESTRR
id in db is: 295729
inserted disease: 160148 ORPHA Cap polyposis
id in db is: 295730
inserted disease: 153630 OMIM MACROGLOSSIA
id in db is: 295731
inserted disease: 104350 OMIM AMASTIA, BILATERAL, WITH URETERAL TRIPLICATION AND DYSMORPHISM
id in db is: 295732
inserted disease: 612356 OMIM HEPARIN COFACTOR II DEFICIENCY
id in db is: 295733
inserted disease: 782 ORPHA Axenfeld-Rieger syndrome
id in db is: 295734
inserted disease: 100675 OMIM ACETAMINOPHEN METABOLISM
id in db is: 295735
inserted disease: 201750 OMIM #201750 ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS;ABS1
id in db is: 295736
inserted disease: 609049 OMIM PIERSON SYNDROME
id in db is: 295737
inserted disease: 251700 OMIM MICROPHTHALMIA WITH HYPEROPIA, RETINAL DEGENERATION, MACROPHAKIA,AND DENTAL ANOMALIES
id in db is: 295738
inserted disease: 271200 OMIM SPINAL MUSCULAR ATROPHY, RYUKYUAN TYPE
id in db is: 295739
inserted disease: 600376 OMIM TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2; HHT2
id in db is: 295740
inserted disease: 614228 OMIM #614228 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2O; CMT2O;;CHARCOT-MARIE-TOOTH NEUROPATHY, AXONAL, TYPE 2O;;CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2O
id in db is: 295741
inserted disease: 616685 OMIM #616685 EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 14; EIG14
id in db is: 295742
inserted disease: 600501 OMIM ABCD SYNDROME
id in db is: 295743
inserted disease: 249600 OMIM MENTAL RETARDATION SYNDROME, MIETENS-WEBER TYPE
id in db is: 295744
inserted disease: 217500 OMIM CORNEAL DYSTROPHY, BAND-SHAPED
id in db is: 295745
inserted disease: 269800 OMIM 269800 SENILE PLAQUE FORMATION
id in db is: 295746
inserted disease: 606176 OMIM #606176 DIABETES MELLITUS, PERMANENT NEONATAL; PNDM;;DIABETES MELLITUS, PERMANENT, OF INFANCY; PDMIDIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, INCLUDED;;DEVELOPMENTAL DELAY, EPILEPSY, AND NEONATAL DIABETES, INCLUDED; DEND,INCLUDED
id in db is: 295747
inserted disease: 222470 OMIM #222470 TRICHOHEPATOENTERIC SYNDROME 1; THES1;;THE SYNDROME;;DIARRHEA, SYNDROMIC;;DIARRHEA, FATAL INFANTILE, WITH TRICHORRHEXIS NODOSA
id in db is: 295748
inserted disease: 600467 OMIM MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 4
id in db is: 295749
inserted disease: 239710 OMIM 239710 ACROFRONTOFACIONASAL DYSOSTOSIS 2;;AFFN DYSOSTOSIS 2; AFFND2;;ACROFRONTOFACIONASAL DYSOSTOSIS WITH GENITOURINARY ANOMALIES;;NAGUIB-RICHIERI-COSTA SYNDROME;;HYPERTELORISM, HYPOSPADIAS, AND POLYSYNDACTYLY SYNDROME
id in db is: 295750
inserted disease: 608967 OMIM #608967 LOEYS-DIETZ SYNDROME, TYPE 2A; LDS2A;;AORTIC ANEURYSM, FAMILIAL THORACIC 5; AAT5
id in db is: 295751
inserted disease: 610427 OMIM #610427 CONE-ROD SYNAPTIC DISORDER, CONGENITAL NONPROGRESSIVE; CRSD;;NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2B, FORMERLY; CSNB2B,FORMERLY;;NIGHT BLINDNESS, CONGENITAL STATIONARY, INCOMPLETE, AUTOSOMAL RECESSIVE,FORMERLY
id in db is: 295752
inserted disease: 132990 OMIM ERYTHEMA NODOSUM, FAMILIAL
id in db is: 295753
inserted disease: 608390 OMIM MYOTONIA, POTASSIUM-AGGRAVATED
id in db is: 295754
inserted disease: 613341 OMIM #613341 LEBER CONGENITAL AMAUROSIS 14; LCA14RETINAL DYSTROPHY, EARLY-ONSET SEVERE, LRAT-RELATED, INCLUDED;;RETINITIS PIGMENTOSA, JUVENILE, LRAT-RELATED, INCLUDED
id in db is: 295755
inserted disease: 214980 OMIM CHOLESTASIS WITH GALLSTONE, ATAXIA, AND VISUAL DISTURBANCE
id in db is: 295756
inserted disease: 125000 OMIM DEAFNESS, UNILATERAL
id in db is: 295757
inserted disease: 603383 OMIM GLAUCOMA 1, OPEN ANGLE, F; GLC1F
id in db is: 295758
inserted disease: 606394 OMIM #606394 MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 6; MODY6;;MODY, TYPE 6
id in db is: 295759
inserted disease: 144755 OMIM HYPEROSTOSIS CRANIALIS INTERNA
id in db is: 295760
inserted disease: 180105 OMIM RETINITIS PIGMENTOSA 10; RP10
id in db is: 295761
inserted disease: 614284 OMIM #614284 STICKLER SYNDROME, TYPE V; STL5
id in db is: 295762
inserted disease: 85193 ORPHA Idiopathic juvenile osteoporosis
id in db is: 295763
inserted disease: 1658 ORPHA Absence of fingerprints-congenital milia syndrome
id in db is: 295764
inserted disease: 614756 OMIM CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION; CANPMR
id in db is: 295765
inserted disease: 314050 OMIM #314050 THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED; XLTT;;THROMBOCYTOPENIA, PLATELET DYSFUNCTION, HEMOLYSIS, AND IMBALANCEDGLOBIN SYNTHESIS
id in db is: 295766
inserted disease: 128950 OMIM EARLOBE CREASE
id in db is: 295767
inserted disease: 1487 ORPHA Cooks syndrome
id in db is: 295768
inserted disease: 93307 ORPHA Multiple epiphyseal dysplasia type 4
id in db is: 295769
inserted disease: 3448 ORPHA Weaver-Williams syndrome
id in db is: 295770
inserted disease: 155700 OMIM MELANOMA, MALIGNANT FAMILIAL INTRAOCULAR
id in db is: 295771
inserted disease: 557000 OMIM #557000 PEARSON MARROW-PANCREAS SYNDROME;;SIDEROBLASTIC ANEMIA WITH MARROW CELL VACUOLIZATION AND EXOCRINE PANCREATICDYSFUNCTION
id in db is: 295772
inserted disease: 609968 OMIM HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5; HHF5
id in db is: 295773
inserted disease: 116800 OMIM #116800 CATARACT, LAMELLAR;;CATARACT, ZONULAR;;PERINUCLEAR CATARACTCATARACT, MARNER TYPE, INCLUDED; CAM, INCLUDED;;CTM, INCLUDED
id in db is: 295774
inserted disease: 1349 ORPHA Maternally-inherited cardiomyopathy and hearing loss
id in db is: 295775
inserted disease: 608220 OMIM %608220 SPASTIC PARAPLEGIA 25, AUTOSOMAL RECESSIVE; SPG25;;DISC HERNIATION WITH SPASTIC PARAPLEGIA, AUTOSOMAL RECESSIVE
id in db is: 295776
inserted disease: 602398 OMIM #602398 DESMOSTEROLOSIS
id in db is: 295777
inserted disease: 50918 ORPHA Kikuchi-Fujimoto disease
id in db is: 295778
inserted disease: 178900 OMIM PUPILLARY MEMBRANE, PERSISTENCE OF
id in db is: 295779
inserted disease: 610758 OMIM #610758 CEREBROOCULOFACIOSKELETAL SYNDROME 4; COFS4
id in db is: 295780
inserted disease: 314389 ORPHA Xq12-q13.3 duplication syndrome
id in db is: 295781
inserted disease: 112250 OMIM DIAPHYSEAL MEDULLARY STENOSIS WITH MALIGNANT FIBROUS HISTIOCYTOMA; DMSMFH
id in db is: 295782
inserted disease: 95714 ORPHA Primary congenital hypothyroidism without thyroid developmental anomaly
id in db is: 295783
inserted disease: 165600 OMIM ORBITAL MARGIN, HYPOPLASIA OF
id in db is: 295784
inserted disease: 600146 OMIM SPASTIC PARAPLEGIA 5B, AUTOSOMAL RECESSIVE
id in db is: 295785
inserted disease: 170400 OMIM #170400 HYPOKALEMIC PERIODIC PARALYSIS, TYPE 1; HOKPP1;;HYPOKALEMIC PERIODIC PARALYSIS; HOKPP
id in db is: 295786
inserted disease: 614294 OMIM CHROMOSOME 15q25 DELETION SYNDROME
id in db is: 295787
inserted disease: 615674 OMIM %615674 DOWLING-DEGOS DISEASE 3; DDD3
id in db is: 295788
inserted disease: 616100 OMIM AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V; ALPS5
id in db is: 295789
inserted disease: 613801 OMIM #613801 RETINITIS PIGMENTOSA 40; RP40
id in db is: 295790
inserted disease: 613424 OMIM #613424 CARDIOMYOPATHY, DILATED, 1R; CMD1RLEFT VENTRICULAR NONCOMPACTION 4, INCLUDED; LVNC4, INCLUDED
id in db is: 295791
inserted disease: 605627 OMIM %605627 CEREBROOCULONASAL SYNDROME
id in db is: 295792
inserted disease: 160500 OMIM #160500 MYOPATHY, DISTAL, 1; MPD1;;MYOPATHY, LATE DISTAL HEREDITARY;;LAING DISTAL MYOPATHY;;MYOPATHY, DISTAL, EARLY-ONSET, AUTOSOMAL DOMINANT
id in db is: 295793
inserted disease: 238320 OMIM HYPERGONADOTROPIC HYPOGONADISM
id in db is: 295794
inserted disease: 609647 OMIM DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE 46
id in db is: 295795
inserted disease: 613908 OMIM #613908 SPINOCEREBELLAR ATAXIA 35; SCA35
id in db is: 295796
inserted disease: 99688 ORPHA Dermotrichic syndrome
id in db is: 295797
inserted disease: 158580 OMIM #158580 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIA; HMN7A;;HMN VIIA;;NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIA;;DHMN7A;;DHMNVP;;SPINAL MUSCULAR ATROPHY, DISTAL, WITH VOCAL CORD PARALYSIS;;HARPER-YOUNG MYOPATHY
id in db is: 295798
inserted disease: 614673 OMIM #614673 MICROCEPHALY 8, PRIMARY, AUTOSOMAL RECESSIVE; MCPH8
id in db is: 295799
inserted disease: 261211 ORPHA 16p11.2p12.2 microdeletion syndrome
id in db is: 295800
inserted disease: 177990 OMIM PTERYGIUM COLLI, ISOLATED
id in db is: 295801
inserted disease: 2098 ORPHA Acromesomelic dysplasia, Grebe type
id in db is: 295802
inserted disease: 123540 OMIM CRYOFIBRINOGENEMIA, FAMILIAL PRIMARY
id in db is: 295803
inserted disease: 607498 OMIM MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 3
id in db is: 295804
inserted disease: 614435 OMIM #614435 HYPOPLASTIC LEFT HEART SYNDROME 2; HLHS2
id in db is: 295805
inserted disease: 251240 OMIM MICROCEPHALY WITH CHEMOTACTIC DEFECT AND TRANSIENT HYPOGAMMAGLOBULINEMIA
id in db is: 295806
inserted disease: 269880 OMIM SHORT SYNDROME
id in db is: 295807
inserted disease: 613229 OMIM TRICHOTILLOMANIA; TTM
id in db is: 295808
inserted disease: 226950 OMIM EPIPHYSEAL DYSPLASIA OF FEMORAL HEAD, MYOPIA, AND DEAFNESS
id in db is: 295809
inserted disease: 616099 OMIM PALMOPLANTAR KERATODERMA AND WOOLLY HAIR; PPKWH
id in db is: 295810
inserted disease: 221790 OMIM DERMATOLEUKODYSTROPHY
id in db is: 295811
inserted disease: 612423 OMIM #612423 PREKALLIKREIN DEFICIENCY;;PKK DEFICIENCY;;FLETCHER FACTOR DEFICIENCY
id in db is: 295812
inserted disease: 132810 OMIM EPOXIDE HYDROLASE 1, MICROSOMAL
id in db is: 295813
inserted disease: 613652 OMIM #613652 C1q DEFICIENCY; C1QD
id in db is: 295814
inserted disease: 264090 OMIM %264090 PROGEROID SYNDROME, NEONATAL;;WIEDEMANN-RAUTENSTRAUCH SYNDROME
id in db is: 295815
inserted disease: 85277 ORPHA X-linked intellectual disability, Cantagrel type
id in db is: 295816
inserted disease: 324708 ORPHA ABeta amyloidosis, Iowa type
id in db is: 295817
inserted disease: 209981 ORPHA IRIDA syndrome
id in db is: 295818
inserted disease: 530 ORPHA Lipoid proteinosis
id in db is: 295819
inserted disease: 601076 OMIM MULLERIAN DUCT APLASIA, UNILATERAL RENAL AGENESIS, AND CERVICOTHORACICSOMITE ANOMALIES
id in db is: 295820
inserted disease: 82004 ORPHA Ehlers-Danlos syndrome with periventricular heterotopia
id in db is: 295821
inserted disease: 615995 OMIM BARDET-BIEDL SYNDROME 18; BBS18
id in db is: 295822
inserted disease: 3144 ORPHA Schneckenbecken dysplasia
id in db is: 295823
inserted disease: 187100 OMIM 187100 TEETH, SUPERNUMERARY
id in db is: 295824
inserted disease: 170995 OMIM *170995 ATP-BINDING CASSETTE, SUBFAMILY D, MEMBER 3; ABCD3;;PEROXISOMAL MEMBRANE PROTEIN 1; PXMP1;;PEROXISOMAL MEMBRANE PROTEIN, 70-KD; PMP70
id in db is: 295825
inserted disease: 260600 OMIM #260600 LEUKODYSTROPHY, HYPOMYELINATING, 3; HLD3
id in db is: 295826
inserted disease: 314034 ORPHA 7p22.1 microduplication syndrome
id in db is: 295827
inserted disease: 615066 OMIM #615066 OSTEOGENESIS IMPERFECTA, TYPE XIV; OI14 ;;OI, TYPE XIV
id in db is: 295828
inserted disease: 600994 OMIM DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 5
id in db is: 295829
inserted disease: 300029 OMIM #300029 RETINITIS PIGMENTOSA 3; RP3;;RETINITIS PIGMENTOSA 15; RP15;;CONE-ROD DEGENERATION, X-LINKED;;CHOROIDORETINAL DEGENERATION WITH RETINAL REFLEX IN HETEROZYGOUS WOMEN
id in db is: 295830
inserted disease: 612126 OMIM #612126 GLUT1 DEFICIENCY SYNDROME 2; GLUT1DS2;;PAROXYSMAL EXERCISE-INDUCED DYSKINESIA WITH OR WITHOUT EPILEPSY AND/ORHEMOLYTIC ANEMIA;;PED WITH OR WITHOUT EPILEPSY AND/OR HEMOLYTIC ANEMIA;;PAROXYSMAL EXERTION-INDUCED DYSTONIA WITH OR WITHOUT EPILEPSY AND/ORHEMOLYTIC ANEMIA;;DYSTONIA 18; DYT18
id in db is: 295831
inserted disease: 293978 ORPHA Deficiency in anterior pituitary function-variable immunodeficiency syndrome
id in db is: 295832
inserted disease: 216820 OMIM COLOBOMA, OCULAR, AUTOSOMAL RECESSIVE
id in db is: 295833
inserted disease: 254509 ORPHA Iatrogenic botulism
id in db is: 295834
inserted disease: 99812 ORPHA LIG4 syndrome
id in db is: 295835
inserted disease: 212135 OMIM 212135 CARDIOSKELETAL SYNDROME, KUWAITI TYPE
id in db is: 295836
inserted disease: 251250 OMIM MICROCEPHALY WITH CERVICAL SPINE FUSION ANOMALIES
id in db is: 295837
inserted disease: 278780 OMIM XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G; XPG
id in db is: 295838
inserted disease: 2616 ORPHA 3M syndrome
id in db is: 295839
inserted disease: 269 ORPHA Facioscapulohumeral dystrophy
id in db is: 295840
inserted disease: 607060 OMIM PARKINSON DISEASE 8, AUTOSOMAL DOMINANT; PARK8
id in db is: 295841
inserted disease: 168563 ORPHA 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome
id in db is: 295842
inserted disease: 120450 OMIM COMEDONES, FAMILIAL DYSKERATOTIC
id in db is: 295843
inserted disease: 602134 OMIM TREMOR, HEREDITARY ESSENTIAL, 2
id in db is: 295844
inserted disease: 612069 OMIM #612069 AMYOTROPHIC LATERAL SCLEROSIS 10, WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA;ALS10FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED,INCLUDED;;FRONTOTEMPORAL DEMENTIA WITH TDP43 INCLUSIONS, TARDBP-RELATED, INCLUDED;;FTLD-TDP, TARDBP-RELATED, INCLUDED
id in db is: 295845
inserted disease: 187800 OMIM #187800 BLEEDING DISORDER, PLATELET-TYPE, 16; BDPLT16;;GLANZMANN THROMBASTHENIA, AUTOSOMAL DOMINANT;;THROMBASTHENIA OF GLANZMANN AND NAEGELI, AUTOSOMAL DOMINANT
id in db is: 295846
inserted disease: 200980 OMIM 200980 ACRORENAL-MANDIBULAR SYNDROME;;ACRORENAL-UTERINE-MANDIBULAR SYNDROME; ARUMS;;SPLIT-HAND AND SPLIT-FOOT WITH MANDIBULAR HYPOPLASIA
id in db is: 295847
inserted disease: 276422 ORPHA 10q22.3q23.3 microduplication syndrome
id in db is: 295848
inserted disease: 603546 OMIM #603546 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY TYPE 2; SEMDJL2;;SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, HALL TYPE;;SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, LEPTODACTYLICTYPE;;SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH MULTIPLE DISLOCATIONS, HALLTYPE
id in db is: 295849
inserted disease: 608624 OMIM 608624 MIDFACE HYPOPLASIA, OBESITY, DEVELOPMENTAL DELAY, AND NEONATAL HYPOTONIA
id in db is: 295850
inserted disease: 616455 OMIM ZIMMERMANN-LABAND SYNDROME 2; ZLS2
id in db is: 295851
inserted disease: 312500 OMIM RETICULOENDOTHELIOSIS, X-LINKED
id in db is: 295852
inserted disease: 631 ORPHA Non-acquired isolated growth hormone deficiency
id in db is: 295853
inserted disease: 99742 ORPHA Amish lethal microcephaly
id in db is: 295854
inserted disease: 616270 OMIM #616270 AMELOGENESIS IMPERFECTA, TYPE IF; AI1F ;;AMELOGENESIS IMPERFECTA, HYPOPLASTIC TYPE IF; AI1F
id in db is: 295855
inserted disease: 143890 OMIM HYPERCHOLESTEROLEMIA, FAMILIAL
id in db is: 295856
inserted disease: 600204 OMIM EPIPHYSEAL DYSPLASIA, MULTIPLE, 2; EDM2
id in db is: 295857
inserted disease: 3434 ORPHA MMEP syndrome
id in db is: 295858
inserted disease: 613837 OMIM #613837 LEBER CONGENITAL AMAUROSIS 11; LCA11
id in db is: 295859
inserted disease: 1297 ORPHA Branchio-oculo-facial syndrome
id in db is: 295860
inserted disease: 388 ORPHA Hirschsprung disease
id in db is: 295861
inserted disease: 614457 OMIM #614457 ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION; ISQMR
id in db is: 295862
inserted disease: 241800 OMIM 241800 HYPOTHALAMIC HAMARTOMASCONGENITAL HYPOTHALAMIC HAMARTOMA SYNDROME, INCLUDED; CHHS, INCLUDED
id in db is: 295863
inserted disease: 616216 OMIM THROMBOCYTOPENIA 5; THC5
id in db is: 295864
inserted disease: 603373 OMIM #603373 HYPERTHYROIDISM, FAMILIAL GESTATIONAL
id in db is: 295865
inserted disease: 75373 ORPHA Progressive bifocal chorioretinal atrophy
id in db is: 295866
inserted disease: 250790 OMIM #250790 METHEMOGLOBINEMIA TYPE IV;;METHEMOGLOBINEMIA DUE TO DEFICIENCY OF CYTOCHROME b5
id in db is: 295867
inserted disease: 307000 OMIM HYDROCEPHALUS DUE TO CONGENITAL STENOSIS OF AQUEDUCT OF SYLVIUS
id in db is: 295868
inserted disease: 613068 OMIM NEURODEGENERATION DUE TO CEREBRAL FOLATE TRANSPORT DEFICIENCY
id in db is: 295869
inserted disease: 177200 OMIM LIDDLE SYNDROME
id in db is: 295870
inserted disease: 248910 OMIM CUTANEOUS MASTOCYTOSIS, CONDUCTIVE HEARING LOSS AND MICROTIA
id in db is: 295871
inserted disease: 227260 OMIM FACIAL ECTODERMAL DYSPLASIA
id in db is: 295872
inserted disease: 615789 OMIM #615789 SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES
id in db is: 295873
inserted disease: 3193 ORPHA Supravalvular aortic stenosis
id in db is: 295874
inserted disease: 112240 OMIM #112240 COLE-CARPENTER SYNDROME 1; CLCRP1;;BONE FRAGILITY WITH CRANIOSYNOSTOSIS, OCULAR PROPTOSIS, HYDROCEPHALUS,AND DISTINCTIVE FACIAL FEATURES
id in db is: 295875
inserted disease: 612447 OMIM SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION
id in db is: 295876
inserted disease: 245200 OMIM #245200 KRABBE DISEASE;;GLOBOID CELL LEUKODYSTROPHY; GLD; GCL;;GLOBOID CELL LEUKOENCEPHALOPATHY;;GALACTOSYLCERAMIDE BETA-GALACTOSIDASE DEFICIENCY;;GALACTOCEREBROSIDASE DEFICIENCY;;GALC DEFICIENCY
id in db is: 295877
inserted disease: 1178 ORPHA Ataxia-tapetoretinal degeneration syndrome
id in db is: 295878
inserted disease: 46488 ORPHA Linear IgA dermatosis
id in db is: 295879
inserted disease: 613721 OMIM #613721 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11; EIEE11
id in db is: 295880
inserted disease: 193003 OMIM %193003 NYSTAGMUS 4, CONGENITAL, AUTOSOMAL DOMINANT; NYS4;;VESTIBULOCEREBELLAR DISORDER WITH PREDOMINANT OCULAR SIGNS
id in db is: 295881
inserted disease: 273900 OMIM THROMBOCYTOPENIA 3
id in db is: 295882
inserted disease: 258040 OMIM 258040 OEIS COMPLEX;;OMPHALOCELE-EXSTROPHY-IMPERFORATE ANUS-SPINAL DEFECTS
id in db is: 295883
inserted disease: 615731 OMIM #615731 NEMALINE MYOPATHY 9; NEM9
id in db is: 295884
inserted disease: 255800 OMIM #255800 SCHWARTZ-JAMPEL SYNDROME, TYPE 1; SJS1;;SCHWARTZ-JAMPEL SYNDROME; SJS;;MYOTONIC MYOPATHY, DWARFISM, CHONDRODYSTROPHY, AND OCULAR AND FACIALABNORMALITIES;;SCHWARTZ-JAMPEL-ABERFELD SYNDROME;;SJA SYNDROME;;CHONDRODYSTROPHIC MYOTONIA
id in db is: 295885
inserted disease: 609197 OMIM %609197 GLUCOCORTICOID DEFICIENCY 3; GCCD3;;FAMILIAL GLUCOCORTICOID DEFICIENCY 3; FGD3;;GLUCOCORTICOID DEFICIENCY 2, FORMERLY; GCCD2, FORMERLY
id in db is: 295886
inserted disease: 151610 OMIM LEVATOR-MEDIAL RECTUS SYNKINESIS
id in db is: 295887
inserted disease: 1759 ORPHA Thoraco-abdominal enteric duplication
id in db is: 295888
inserted disease: 609039 OMIM NARCOLEPSY 3; NRCLP3
id in db is: 295889
inserted disease: 3074 ORPHA Intellectual disability-short stature-hypertelorism syndrome
id in db is: 295890
inserted disease: 89937 ORPHA Autosomal dominant hypophosphatemic rickets
id in db is: 295891
inserted disease: 263300 OMIM #263300 POLYCYTHEMIA VERA;;PV;;POLYCYTHEMIA RUBRA VERA; PRV
id in db is: 295892
inserted disease: 117 ORPHA Behçet disease
id in db is: 295893
inserted disease: 607841 OMIM #607841 DEAFNESS, AUTOSOMAL DOMINANT 48; DFNA48
id in db is: 295894
inserted disease: 614376 OMIM #614376 SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY; SRTD5;;ASPHYXIATING THORACIC DYSTROPHY 5; ATD5
id in db is: 295895
inserted disease: 1059 ORPHA Blue rubber bleb nevus
id in db is: 295896
inserted disease: 119500 OMIM POPLITEAL PTERYGIUM SYNDROME
id in db is: 295897
inserted disease: 314900 OMIM XM SYSTEM
id in db is: 295898
inserted disease: 609015 OMIM #609015 TRIFUNCTIONAL PROTEIN DEFICIENCY;;MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCYTRIFUNCTIONAL PROTEIN DEFICIENCY WITH MYOPATHY AND NEUROPATHY, INCLUDED
id in db is: 295899
inserted disease: 613458 OMIM CHROMOSOME 16p13.3 DUPLICATION SYNDROME
id in db is: 295900
inserted disease: 615592 OMIM #615592 IMMUNODEFICIENCY 15; IMD15
id in db is: 295901
inserted disease: 610023 OMIM 610023 BRACHYDACTYLY, COLOBOMA, AND ANTERIOR SEGMENT DYSGENESIS
id in db is: 295902
inserted disease: 614608 OMIM #614608 MENTAL RETARDATION, AUTOSOMAL DOMINANT 15; MRD15
id in db is: 295903
inserted disease: 311350 OMIM OUABAIN RESISTANCE
id in db is: 295904
inserted disease: 341 ORPHA Viral hemorrhagic fever
id in db is: 295905
inserted disease: 611560 OMIM #611560 JOUBERT SYNDROME 7; JBTS7
id in db is: 295906
inserted disease: 73256 ORPHA Central neurocytoma
id in db is: 295907
inserted disease: 148360 OMIM 148360 KERATODERMA, PALMOPLANTAR, WITH NAIL DYSTROPHY AND HEREDITARY MOTOR-SENSORYNEUROPATHY;;AXONAL NEUROPATHY WITH PALMOPLANTAR KERATODERMA;;CHARCOT-MARIE-TOOTH DISEASE WITH PALMOPLANTAR KERATODERMA AND NAILDYSTROPHY
id in db is: 295908
inserted disease: 106990 OMIM 106990 ANONYCHIA-ONYCHODYSTROPHY WITH BRACHYDACTYLY TYPE B AND ECTRODACTYLY
id in db is: 295909
inserted disease: 2749 ORPHA Oromandibular-limb hypogenesis syndrome
id in db is: 295910
inserted disease: 1216 ORPHA Autosomal dominant congenital benign spinal muscular atrophy
id in db is: 295911
inserted disease: 1660 ORPHA Dermo-odonto dysplasia
id in db is: 295912
inserted disease: 611584 OMIM #611584 WAARDENBURG SYNDROME, TYPE 2E; WS2E;;HYPOGONADOTROPIC HYPOGONADISM WITH ANOSMIA AND DEAFNESS, WITH OR WITHOUTHYPOPIGMENTATION;;WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT;;WS2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT;;WAARDENBURG SYNDROME, TYPE IIE
id in db is: 295913
inserted disease: 609944 OMIM ECTODERMAL DYSPLASIA, SENSORINEURAL HEARING LOSS, AND DISTINCTIVE FACIAL FEATURES
id in db is: 295914
inserted disease: 2017 ORPHA Sternal cleft
id in db is: 295915
inserted disease: 606842 OMIM CARDIONEUROMYOPATHY WITH HYALINE MASSES AND NEMALINE RODS
id in db is: 295916
inserted disease: 1878 ORPHA Autosomal recessive limb-girdle muscular dystrophy type 2H
id in db is: 295917
inserted disease: 607578 OMIM BREATH-HOLDING SPELLS
id in db is: 295918
inserted disease: 615468 OMIM #615468 IMMUNODEFICIENCY 12; IMD12
id in db is: 295919
inserted disease: 609255 OMIM FEBRILE SEIZURES, FAMILIAL, 5; FEB5
id in db is: 295920
inserted disease: 179600 OMIM RAYNAUD DISEASE
id in db is: 295921
inserted disease: 606579 OMIM #606579 VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1;VAMAS1;;VITILIGO; VTLG;;SYSTEMIC LUPUS ERYTHEMATOSUS, VITILIGO-RELATED; SLEV1
id in db is: 295922
inserted disease: 605019 OMIM #605019 HYPOBETALIPOPROTEINEMIA, FAMILIAL, 2; FHBL2;;HYPOLIPIDEMIA, FAMILIAL, COMBINED
id in db is: 295923
inserted disease: 614055 OMIM ACETYL-CoA ACETYLTRANSFERASE-2 DEFICIENCY; ACAT2D
id in db is: 295924
inserted disease: 148820 OMIM #148820 WAARDENBURG SYNDROME, TYPE 3; WS3;;WAARDENBURG SYNDROME WITH UPPER LIMB ANOMALIES;;WAARDENBURG SYNDROME, TYPE III;;KLEIN-WAARDENBURG SYNDROME
id in db is: 295925
inserted disease: 106750 OMIM ANONYCHIA WITH FLEXURAL PIGMENTATION
id in db is: 295926
inserted disease: 512 ORPHA Metachromatic leukodystrophy
id in db is: 295927
inserted disease: 701 ORPHA Alopecia universalis
id in db is: 295928
inserted disease: 169000 OMIM %169000 PATELLA, FAMILIAL RECURRENT DISLOCATION OF
id in db is: 295929
inserted disease: 107900 OMIM ARMS, MALFORMATION OF
id in db is: 295930
inserted disease: 300486 OMIM #300486 MENTAL RETARDATION, X-LINKED, WITH CEREBELLAR HYPOPLASIA AND DISTINCTIVEFACIAL APPEARANCE;;MENTAL RETARDATION, X-LINKED 60, FORMERLY; MRX60, FORMERLY
id in db is: 295931
inserted disease: 307700 OMIM HYPOPARATHYROIDISM, X-LINKED
id in db is: 295932
inserted disease: 171100 OMIM PHAGOCYTOSIS, PLASMA-RELATED DEFECT IN
id in db is: 295933
inserted disease: 1573 ORPHA Hypotrichosis with juvenile macular degeneration
id in db is: 295934
inserted disease: 163937 ORPHA X-linked intellectual disability, Najm type
id in db is: 295935
inserted disease: 600089 OMIM PANCREATIC BETA CELL AGENESIS WITH NEONATAL DIABETES MELLITUS
id in db is: 295936
inserted disease: 1027 ORPHA Autosomal recessive amelia
id in db is: 295937
inserted disease: 616398 OMIM DYSTONIA 26, MYOCLONIC; DYT26
id in db is: 295938
inserted disease: 184400 OMIM SPRENGEL DEFORMITY
id in db is: 295939
inserted disease: 2720 ORPHA Oculocerebral hypopigmentation syndrome, Preus type
id in db is: 295940
inserted disease: 102800 OMIM ADENOSINE TRIPHOSPHATASE DEFICIENCY, ANEMIA DUE TO
id in db is: 295941
inserted disease: 233600 OMIM GRANULOCYTOPENIA WITH IMMUNOGLOBULIN ABNORMALITY
id in db is: 295942
inserted disease: 615147 OMIM #615147 RETINAL DYSTROPHY, IRIS COLOBOMA, AND COMEDOGENIC ACNE SYNDROME; RDCCAS
id in db is: 295943
inserted disease: 2325 ORPHA Epidermolysis bullosa simplex with anodontia/hypodontia
id in db is: 295944
inserted disease: 255100 OMIM MYOPATHY WITH ABNORMAL LIPID METABOLISM
id in db is: 295945
inserted disease: 616479 OMIM PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 2; PEOB2
id in db is: 295946
inserted disease: 1422 ORPHA Chondrodysplasia-disorder of sex development syndrome
id in db is: 295947
inserted disease: 66630 ORPHA Congenital pseudoarthrosis of clavicle
id in db is: 295948
inserted disease: 492 ORPHA Proliferating trichilemmal cyst
id in db is: 295949
inserted disease: 609460 OMIM GOLDBERG-SHPRINTZEN SYNDROME; GOSHS
id in db is: 295950
inserted disease: 174500 OMIM #174500 POLYDACTYLY, PREAXIAL II; PPD2;;POLYDACTYLY OF TRIPHALANGEAL THUMB;;TRIPHALANGEAL THUMB-POLYDACTYLY SYNDROMETRIPHALANGEAL THUMB WITH POLYSYNDACTYLY, INCLUDED;;TRIPHALANGEAL THUMB-POLYSYNDACTYLY SYNDROME, INCLUDED;;TPT-PS SYNDROME, INCLUDED;;TRIPHALANGEAL THUMB, INCLUDED; TPT, INCLUDED
id in db is: 295951
inserted disease: 270500 OMIM 270500 ATAXIA, SPASTIC, CHILDHOOD-ONSET, AUTOSOMAL RECESSIVE, WITH OPTICATROPHY AND MENTAL RETARDATION
id in db is: 295952
inserted disease: 300958 OMIM MENTAL RETARDATION, X-LINKED 102; MRX102
id in db is: 295953
inserted disease: 257350 OMIM NUCHAL BLEB, FAMILIAL
id in db is: 295954
inserted disease: 820 ORPHA Sneddon syndrome
id in db is: 295955
inserted disease: 615619 OMIM CHOLANGIOCARCINOMA
id in db is: 295956
inserted disease: 142330 OMIM HEPATIC ADENOMAS, FAMILIAL
id in db is: 295957
inserted disease: 615387 OMIM #615387 T-CELL RECEPTOR-ALPHA/BETA DEFICIENCY;;IMMUNODEFICIENCY 7, TCR-ALPHA/BETA DEFICIENT; IMD7
id in db is: 295958
inserted disease: 678 ORPHA Papillon-Lefèvre syndrome
id in db is: 295959
inserted disease: 272750 OMIM TAY-SACHS DISEASE, AB VARIANT
id in db is: 295960
inserted disease: 133020 OMIM #133020 ERYTHERMALGIA, PRIMARY;;ERYTHROMELALGIA, PRIMARY;;ERYTHROMELALGIA, FAMILIALNEUROPATHY, SMALL FIBER, INCLUDED; SFNP, INCLUDED
id in db is: 295961
inserted disease: 616138 OMIM PERRAULT SYNDROME 5; PRLTS5
id in db is: 295962
inserted disease: 602401 OMIM %602401 ECTODERMAL DYSPLASIA 8, HAIR/TOOTH/NAIL TYPE; ECTD8
id in db is: 295963
inserted disease: 83317 ORPHA Scrub typhus
id in db is: 295964
inserted disease: 240400 OMIM HYPOASCORBEMIA
id in db is: 295965
inserted disease: 138300 OMIM GLUTATHIONE REDUCTASE
id in db is: 295966
inserted disease: 613703 OMIM MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6
id in db is: 295967
inserted disease: 616202 OMIM CEREBELLOFACIODENTAL SYNDROME; CFDS
id in db is: 295968
inserted disease: 613285 OMIM #613285 DEAFNESS, AUTOSOMAL RECESSIVE 25; DFNB25
id in db is: 295969
inserted disease: 2815 ORPHA Spastic paraparesis-deafness syndrome
id in db is: 295970
inserted disease: 142470 OMIM FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 2
id in db is: 295971
inserted disease: 2535 ORPHA Microcornea-corectopia-macular hypoplasia syndrome
id in db is: 295972
inserted disease: 66625 ORPHA Cerebro-oculo-nasal syndrome
id in db is: 295973
inserted disease: 262650 OMIM PITUITARY DWARFISM IV
id in db is: 295974
inserted disease: 607721 OMIM #607721 NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR; NSLH;;TOSTI SYNDROME
id in db is: 295975
inserted disease: 93406 ORPHA Syndactyly type 5
id in db is: 295976
inserted disease: 614350 OMIM #614350 COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5; HNPCC5
id in db is: 295977
inserted disease: 616282 OMIM SPASTIC PARAPLEGIA 73, AUTOSOMAL DOMINANT; SPG73
id in db is: 295978
inserted disease: 90674 ORPHA Isolated thyroid-stimulating hormone deficiency
id in db is: 295979
inserted disease: 226440 OMIM 226440 EPIDERMOLYSIS BULLOSA, LATE-ONSET LOCALIZED JUNCTIONAL, WITH MENTALRETARDATION
id in db is: 295980
inserted disease: 608264 OMIM DEAFNESS, CONGENITAL NEUROSENSORY, AUTOSOMAL RECESSIVE 40
id in db is: 295981
inserted disease: 608612 OMIM MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY; MADB
id in db is: 295982
inserted disease: 612394 OMIM #612394 BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS;;LYSYL HYDROXYLASE 3 DEFICIENCY;;LH3 DEFICIENCY
id in db is: 295983
inserted disease: 123150 OMIM #123150 JACKSON-WEISS SYNDROME; JWS;;CRANIOSYNOSTOSIS, MIDFACIAL HYPOPLASIA, AND FOOT ABNORMALITIES
id in db is: 295984
inserted disease: 217030 OMIM COMPLEMENT FACTOR I
id in db is: 295985
inserted disease: 95496 ORPHA Pituitary stalk interruption syndrome
id in db is: 295986
inserted disease: 611 ORPHA Inclusion body myositis
id in db is: 295987
inserted disease: 158673 ORPHA Acral dystrophic epidermolysis bullosa
id in db is: 295988
inserted disease: 610706 OMIM #610706 DEAFNESS, CONGENITAL, WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA;;DEAFNESS, CONGENITAL, WITH LABYRINTHINE APLASIA, MICROTIA, AND MICRODONTIA;;DEAFNESS WITH LAMM
id in db is: 295989
inserted disease: 277950 OMIM #277950 WINCHESTER SYNDROME; WNCHRS
id in db is: 295990
inserted disease: 125540 OMIM DERMAL RIDGES, PATTERNLESS
id in db is: 295991
inserted disease: 192050 OMIM 192050 UTERUS BICORNIS BICOLLIS WITH PARTIAL VAGINAL SEPTUM AND UNILATERALHEMATOCOLPOS WITH IPSILATERAL RENAL AGENESIS
id in db is: 295992
inserted disease: 261311 ORPHA 20q13.33 microdeletion syndrome
id in db is: 295993
inserted disease: 235700 OMIM #235700 HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY
id in db is: 295994
inserted disease: 608762 OMIM EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 3; EIG3
id in db is: 295995
inserted disease: 139474 ORPHA 17q11.2 microduplication syndrome
id in db is: 295996
inserted disease: 609115 OMIM LIMB-GIRDLE MUSCULAR DYSTROPHY, TYPE 1G; LGMD1G
id in db is: 295997
inserted disease: 253240 OMIM %253240 MUCUS INSPISSATION OF RESPIRATORY TRACT
id in db is: 295998
inserted disease: 231580 ORPHA Primary unilateral adrenal hyperplasia
id in db is: 295999
inserted disease: 614286 OMIM #614286 MYELODYSPLASTIC SYNDROME; MDS;;MYELODYSPLASTIC SYNDROME, SUSCEPTIBILITY TO, INCLUDED
id in db is: 296000
inserted disease: 3268 ORPHA Radioulnar synostosis-microcephaly-scoliosis syndrome
id in db is: 296001
inserted disease: 1802 ORPHA Ghosal hematodiaphyseal dysplasia
id in db is: 296002
inserted disease: 191480 OMIM %191480 UNCOMBABLE HAIR SYNDROME;;PILI TRIANGULI ET CANALICULI
id in db is: 296003
inserted disease: 614200 OMIM %614200 BLEEDING DISORDER, PLATELET-TYPE, 9; BDPLT9;;GLYCOPROTEIN Ia DEFICIENCY;;GP Ia DEFICIENCY;;COLLAGEN PLATELET RECEPTOR DEFICIENCY
id in db is: 296004
inserted disease: 199318 ORPHA 15q13.3 microdeletion syndrome
id in db is: 296005
inserted disease: 314580 OMIM #314580 WIEACKER-WOLFF SYNDROME; WRWF;;WIEACKER SYNDROME;;CONTRACTURES OF FEET, MUSCLE ATROPHY, AND OCULOMOTOR APRAXIA;;APRAXIA, OCULOMOTOR, WITH CONGENITAL CONTRACTURES AND MUSCLE ATROPHY
id in db is: 296006
inserted disease: 277990 OMIM INTELLECTUAL DISABILITY, WOLFF TYPE
id in db is: 296007
inserted disease: 85435 ORPHA Juvenile rheumatoid factor-positive polyarthritis
id in db is: 296008
inserted disease: 189700 OMIM %189700 TORUS PALATINUS AND TORUS MANDIBULARIS
id in db is: 296009
inserted disease: 2197 ORPHA Idiopathic hypercalciuria
id in db is: 296010
inserted disease: 231100 OMIM HEMOCHROMATOSIS, NEONATAL
id in db is: 296011
inserted disease: 96253 ORPHA Cushing disease
id in db is: 296012
inserted disease: 604403 OMIM #604403 GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2; GEFSP2;;GEFS+, TYPE 2; GEFS+2FEBRILE SEIZURES, FAMILIAL, 3A, INCLUDED; FEB3A, INCLUDED
id in db is: 296013
inserted disease: 613853 OMIM #613853 TRANSPOSITION OF THE GREAT ARTERIES, DEXTRO-LOOPED 2; DTGA2
id in db is: 296014
inserted disease: 300498 OMIM #300498 MENTAL RETARDATION, X-LINKED 45; MRX45
id in db is: 296015
inserted disease: 222 ORPHA Erosive pustular dermatosis of the scalp
id in db is: 296016
inserted disease: 608154 OMIM %608154 LIPODYSTROPHY, GENERALIZED, WITH MENTAL RETARDATION, DEAFNESS, SHORTSTATURE, AND SLENDER BONES
id in db is: 296017
inserted disease: 440 ORPHA Familial hypospadias
id in db is: 296018
inserted disease: 167600 OMIM PALMARIS LONGUS MUSCLE, ABSENCE OF
id in db is: 296019
inserted disease: 1355 ORPHA Congenital heart defect-round face-developmental delay syndrome
id in db is: 296020
inserted disease: 615287 OMIM #615287 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 13; MDDGA13;;WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, B3GNT1-RELATED
id in db is: 296021
inserted disease: 606766 OMIM #606766 SPERMATOGENIC FAILURE 3; SPGF3
id in db is: 296022
inserted disease: 615745 OMIM ATRIAL STANDSTILL 2; ATRST2
id in db is: 296023
inserted disease: 1949 ORPHA Benign familial neonatal epilepsy
id in db is: 296024
inserted disease: 268500 OMIM 268500 ROWLEY-ROSENBERG SYNDROME;;GROWTH RETARDATION, PULMONARY HYPERTENSION, AND AMINO ACIDURIA
id in db is: 296025
inserted disease: 613205 OMIM #613205 MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED;;MDCL
id in db is: 296026
inserted disease: 253200 OMIM #253200 MUCOPOLYSACCHARIDOSIS TYPE VI; MPS6;;MPS VI;;MAROTEAUX-LAMY SYNDROME;;ARYLSULFATASE B DEFICIENCY;;ARSB DEFICIENCY;;N-ACETYLGALACTOSAMINE-4-SULFATASE DEFICIENCY
id in db is: 296027
inserted disease: 147750 OMIM IVIC SYNDROME
id in db is: 296028
inserted disease: 612702 OMIM #612702 HYPOGONADOTROPIC HYPOGONADISM 6 WITH OR WITHOUT ANOSMIA; HH6
id in db is: 296029
inserted disease: 125500 OMIM DENTINOGENESIS IMPERFECTA, SHIELDS TYPE III
id in db is: 296030
inserted disease: 614390 OMIM #614390 PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2; RPRGL2
id in db is: 296031
inserted disease: 132450 OMIM #132450 EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND CONDUCTIVE DEAFNESS;EDMMD
id in db is: 296032
inserted disease: 324575 ORPHA Hyperinsulinism due to HNF1A deficiency
id in db is: 296033
inserted disease: 168601 OMIM PARKINSON DISEASE 1, AUTOSOMAL DOMINANT; PARK1
id in db is: 296034
inserted disease: 612852 OMIM #612852 OSTEOMYELITIS, STERILE MULTIFOCAL, WITH PERIOSTITIS AND PUSTULOSIS;OMPP;;INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY; DIRA
id in db is: 296035
inserted disease: 260150 OMIM 260150 PALANT CLEFT PALATE SYNDROME
id in db is: 296036
inserted disease: 50810 ORPHA Microlissencephaly-micromelia syndrome
id in db is: 296037
inserted disease: 235740 OMIM HIRSCHSPRUNG DISEASE WITH POLYDACTYLY, RENAL AGENESIS, AND DEAFNESS
id in db is: 296038
inserted disease: 604370 OMIM BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1; BROVCA1
id in db is: 296039
inserted disease: 614744 OMIM #614744 FACIAL PARESIS, HEREDITARY CONGENITAL, 3; HCFP3
id in db is: 296040
inserted disease: 280000 OMIM #280000 COLOBOMA, CONGENITAL HEART DISEASE, ICHTHYOSIFORM DERMATOSIS, MENTALRETARDATION, AND EAR ANOMALIES SYNDROME; CHIME;;CHIME SYNDROME;;ZUNICH NEUROECTODERMAL SYNDROME
id in db is: 296041
inserted disease: 174400 OMIM POLYDACTYLY, PREAXIAL I
id in db is: 296042
inserted disease: 615458 OMIM #615458 MICROCORNEA, MYOPIC CHORIORETINAL ATROPHY, AND TELECANTHUS; MMCAT
id in db is: 296043
inserted disease: 601596 OMIM CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C; CMT4C
id in db is: 296044
inserted disease: 2368 ORPHA Gastroschisis
id in db is: 296045
inserted disease: 614894 OMIM MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE
id in db is: 296046
inserted disease: 608768 OMIM #608768 SPINOCEREBELLAR ATAXIA 8; SCA8
id in db is: 296047
inserted disease: 612073 OMIM #612073 MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH ORWITHOUT METHYLMALONIC ACIDURIA); MTDPS5;;MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM, WITHOR WITHOUT METHYLMALONIC ACIDURIA, AUTOSOMAL RECESSIVE, SUCLA2-RELATED
id in db is: 296048
inserted disease: 583 ORPHA Mucopolysaccharidosis type 6
id in db is: 296049
inserted disease: 610181 OMIM AICARDI-GOUTIERES SYNDROME 2; AGS2
id in db is: 296050
inserted disease: 217340 ORPHA 17q21.31 microduplication  syndrome
id in db is: 296051
inserted disease: 615993 OMIM BARDET-BIEDL SYNDROME 16; BBS16
id in db is: 296052
inserted disease: 116200 OMIM CATARACT, ZONULAR PULVERULENT 1
id in db is: 296053
inserted disease: 600268 OMIM %600268 OCULOECTODERMAL SYNDROME; OES;;APLASIA CUTIS CONGENITA WITH EPIBULBAR DERMOIDS
id in db is: 296054
inserted disease: 1806 ORPHA Ectodermal dysplasia-blindness syndrome
id in db is: 296055
inserted disease: 614561 OMIM %614561 LEUKOENCEPHALOPATHY, BRAIN CALCIFICATIONS, AND CYSTS; LCC;;LABRUNE SYNDROME
id in db is: 296056
inserted disease: 3121 ORPHA Ruvalcaba syndrome
id in db is: 296057
inserted disease: 259200 OMIM BLOUNT DISEASE, ADOLESCENT
id in db is: 296058
inserted disease: 329329 ORPHA Autosomal recessive frontotemporal pachygyria
id in db is: 296059
inserted disease: 2003 ORPHA Cleft lip/palate-deafness-sacral lipoma syndrome
id in db is: 296060
inserted disease: 610535 OMIM GLAUCOMA 1, OPEN ANGLE, M
id in db is: 296061
inserted disease: 615889 OMIM LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE; LKENP
id in db is: 296062
inserted disease: 610202 OMIM #610202 CATARACT 21, MULTIPLE TYPES; CTRCT21;;CATARACT 21, MULTIPLE TYPES, WITH OR WITHOUT MICROCORNEA;;CATARACT, CONGENITAL, CERULEAN TYPE, 4; CCA4;;CATARACT, PULVERULENT, JUVENILE-ONSET
id in db is: 296063
inserted disease: 309620 OMIM %309620 MENTAL RETARDATION, SKELETAL DYSPLASIA, AND ABDUCENS PALSY; MRSD;;CHRISTIAN SYNDROME; CHRS
id in db is: 296064
inserted disease: 88637 ORPHA Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome
id in db is: 296065
inserted disease: 615895 OMIM POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY; PGBM1
id in db is: 296066
inserted disease: 602722 OMIM #602722 RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE; RTADR;;RTA, DISTAL, AUTOSOMAL RECESSIVE;;RENAL TUBULAR ACIDOSIS, AUTOSOMAL RECESSIVE, WITH PRESERVED HEARINGRENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE, WITH LATE-ONSETSENSORINEURAL HEARING LOSS, INCLUDED
id in db is: 296067
inserted disease: 613428 OMIM #613428 RETINITIS PIGMENTOSA 54; RP54
id in db is: 296068
inserted disease: 391411 ORPHA Atypical juvenile parkinsonism
id in db is: 296069
inserted disease: 613074 OMIM DEAFNESS, AUTOSOMAL DOMINANT 50; DFNA50
id in db is: 296070
inserted disease: 98798 ORPHA Isochromosomy Yq
id in db is: 296071
inserted disease: 108720 OMIM ATELOSTEOGENESIS, TYPE I; AO1
id in db is: 296072
inserted disease: 1041 ORPHA Hydrops fetalis
id in db is: 296073
inserted disease: 587 ORPHA Muir-Torre syndrome
id in db is: 296074
inserted disease: 90033 ORPHA Autoimmune hemolytic anemia, warm type
id in db is: 296075
inserted disease: 616459 OMIM AL-RAQAD SYNDROME; ARS
id in db is: 296076
inserted disease: 300705 OMIM #300705 MENTAL RETARDATION, X-LINKED 17; MRX17;;MENTAL RETARDATION, X-LINKED 31; MRX31
id in db is: 296077
inserted disease: 616248 OMIM LETHAL CONGENITAL CONTRACTURE SYNDROME 6; LCCS6
id in db is: 296078
inserted disease: 261349 ORPHA 2p15p16.1 microdeletion syndrome
id in db is: 296079
inserted disease: 120330 OMIM #120330 PAPILLORENAL SYNDROME; PAPRS;;RENAL-COLOBOMA SYNDROME;;OPTIC NERVE COLOBOMA WITH RENAL DISEASE;;COLOBOMA OF OPTIC NERVE WITH RENAL DISEASE;;OPTIC COLOBOMA, VESICOURETERAL REFLUX, AND RENAL ANOMALIES;;RENAL-COLOBOMA SYNDROME WITH MACULAR ABNORMALITIES;;CONGENITAL ANOMALIES OF THE KIDNEY AND URINARY TRACT WITH OCULAR ABNORMALITIES;;CAKUT WITH OCULAR ABNORMALITIES
id in db is: 296080
inserted disease: 3230 ORPHA Deafness-oligodontia syndrome
id in db is: 296081
inserted disease: 613670 OMIM #613670 MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTICFEATURES
id in db is: 296082
inserted disease: 9 ORPHA Tetrasomy X
id in db is: 296083
inserted disease: 200950 OMIM ACID PHOSPHATASE DEFICIENCY
id in db is: 296084
inserted disease: 220400 OMIM JERVELL AND LANGE-NIELSEN SYNDROME
id in db is: 296085
inserted disease: 610208 OMIM MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 10
id in db is: 296086
inserted disease: 93160 ORPHA Hypocalcemic vitamin D-resistant rickets
id in db is: 296087
inserted disease: 141750 OMIM #141750 ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, CHROMOSOME 16-RELATED;;ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, DELETION-TYPE;;ATR-16 SYNDROME;;ATR, DELETION-TYPE;;HEMOGLOBIN H-RELATED MENTAL RETARDATION; HBHR;;MENTAL RETARDATION WITH HEMOGLOBIN H;;CHROMOSOME 16p DELETION SYNDROME
id in db is: 296088
inserted disease: 228900 OMIM #228900 FIBULAR HYPOPLASIA AND COMPLEX BRACHYDACTYLY;;DU PAN SYNDROME
id in db is: 296089
inserted disease: 2050 ORPHA Cole-Carpenter syndrome
id in db is: 296090
inserted disease: 1259 ORPHA Blepharoptosis-myopia-ectopia lentis syndrome
id in db is: 296091
inserted disease: 145290 OMIM HYPERREFLEXIA
id in db is: 296092
inserted disease: 187350 OMIM TELECANTHUS
id in db is: 296093
inserted disease: 612079 OMIM ALOPECIA, NEUROLOGIC DEFECTS, AND ENDOCRINOPATHY SYNDROME; ANES
id in db is: 296094
inserted disease: 615705 OMIM #615705 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15; SCAR15;;SALIH ATAXIA
id in db is: 296095
inserted disease: 615351 OMIM MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14; MDDGB14
id in db is: 296096
inserted disease: 300895 OMIM #300895 OHDO SYNDROME, X-LINKED; OHDOX;;BLEPHAROPHIMOSIS-MENTAL RETARDATION SYNDROME, MAAT-KIEVIT-BRUNNERTYPE
id in db is: 296097
inserted disease: 105580 OMIM ANAL CANAL CARCINOMACLOACOGENIC CARCINOMA, INCLUDED
id in db is: 296098
inserted disease: 1003 ORPHA Scalp defects-postaxial polydactyly syndrome
id in db is: 296099
inserted disease: 2911 ORPHA Poland syndrome
id in db is: 296100
inserted disease: 106260 OMIM #106260 ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE;;AEC SYNDROME;;HAY-WELLS SYNDROME
id in db is: 296101
inserted disease: 213600 OMIM #213600 BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1; IBGC1;;STRIOPALLIDODENTATE CALCINOSIS, BILATERAL; BSPDC;;STRIOPALLIDODENTATE CALCINOSIS, AUTOSOMAL DOMINANT, ADULT-ONSET;;CEREBRAL CALCIFICATION, NONARTERIOSCLEROTIC, IDIOPATHIC, ADULT-ONSET;;FERROCALCINOSIS, CEREBROVASCULAR;;FAHR DISEASE, FAMILIAL, FORMERLY;;BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 3, FORMERLY; IBGC3, FORMERLY
id in db is: 296102
inserted disease: 301700 OMIM ANOSMIA
id in db is: 296103
inserted disease: 613887 OMIM #613887 CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 4; CATC4
id in db is: 296104
inserted disease: 300779 OMIM %300779 CORNEAL DYSTROPHY, ENDOTHELIAL, X-LINKED; XECD;;ENDOTHELIAL CORNEAL DYSTROPHY, X-LINKED
id in db is: 296105
inserted disease: 500002 OMIM #500002 MITOCHONDRIAL MYOPATHY WITH DIABETES;;MITOCHONDRIAL MYOPATHY, LIPID TYPE
id in db is: 296106
inserted disease: 39 ORPHA Acromelanosis
id in db is: 296107
inserted disease: 754 ORPHA Androgen insensitivity syndrome
id in db is: 296108
inserted disease: 3377 ORPHA Trismus-pseudocamptodactyly syndrome
id in db is: 296109
inserted disease: 792 ORPHA X-linked retinoschisis
id in db is: 296110
inserted disease: 123000 OMIM CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT
id in db is: 296111
inserted disease: 149000 OMIM %149000 KLIPPEL-TRENAUNAY-WEBER SYNDROME;;KTW SYNDROME;;KLIPPEL-TRENAUNAY SYNDROME; KTS;;ANGIOOSTEOHYPERTROPHY SYNDROME
id in db is: 296112
inserted disease: 614102 OMIM #614102 IMMUNOGLOBULIN KAPPA LIGHT CHAIN DEFICIENCY; IGKCD;;KAPPA CHAIN DEFICIENCY
id in db is: 296113
inserted disease: 611426 OMIM 611426 TENTED EYEBROWS
id in db is: 296114
inserted disease: 211180 OMIM BOWEN-CONRADI SYNDROME
id in db is: 296115
inserted disease: 182815 OMIM SPASTIC PARAPLEGIA WITH NEUROPATHY AND POIKILODERMA
id in db is: 296116
inserted disease: 79405 ORPHA Junctional epidermolysis bullosa inversa
id in db is: 296117
inserted disease: 226292 ORPHA Permanent congenital hypothyroidism
id in db is: 296118
inserted disease: 251950 OMIM MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS; MMLA
id in db is: 296119
inserted disease: 180000 OMIM RETINAL ARTERIES, TORTUOSITY OF
id in db is: 296120
inserted disease: 1915 ORPHA Fetal alcohol syndrome
id in db is: 296121
inserted disease: 243110 OMIM INTERLEUKIN 1, DEFECTIVE T-CELL RESPONSE TO
id in db is: 296122
inserted disease: 202900 OMIM ALANINURIA WITH MICROCEPHALY, DWARFISM, ENAMEL HYPOPLASIA, AND DIABETESMELLITUS
id in db is: 296123
inserted disease: 176873 OMIM CELL DIVISION CYCLE 2-LIKE 1
id in db is: 296124
inserted disease: 615883 OMIM MYOPATHY, TUBULAR AGGREGATE, 2; TAM2
id in db is: 296125
inserted disease: 3 DECIPHER Williams-Beuren Syndrome (WBS)
id in db is: 296126
inserted disease: 139436 ORPHA Multicentric reticulohistiocytosis
id in db is: 296127
inserted disease: 615574 OMIM ASPARAGINE SYNTHETASE DEFICIENCY; ASNSD
id in db is: 296128
inserted disease: 1112 ORPHA Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome
id in db is: 296129
inserted disease: 1426 ORPHA Greenberg dysplasia
id in db is: 296130
inserted disease: 613107 OMIM #613107 NEUTROPENIA, SEVERE CONGENITAL, 2, AUTOSOMAL DOMINANT; SCN2
id in db is: 296131
inserted disease: 227270 OMIM FACIOCARDIOMELIC DYSPLASIA, LETHAL
id in db is: 296132
inserted disease: 600384 OMIM %600384 APHALANGIA, PARTIAL, WITH SYNDACTYLY AND DUPLICATION OF METATARSALIV
id in db is: 296133
inserted disease: 614842 OMIM #614842 HYPOGONADOTROPIC HYPOGONADISM 13 WITH OR WITHOUT ANOSMIA; HH13
id in db is: 296134
inserted disease: 233710 OMIM GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE,TYPE II
id in db is: 296135
inserted disease: 607596 OMIM PONTOCEREBELLAR HYPOPLASIA, TYPE 1
id in db is: 296136
inserted disease: 608591 OMIM CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2G; CMT2G
id in db is: 296137
inserted disease: 145650 OMIM THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY
id in db is: 296138
inserted disease: 176690 OMIM 176690 PROGEROID SHORT STATURE WITH PIGMENTED NEVI;;MULVIHILL-SMITH SYNDROME
id in db is: 296139
inserted disease: 601086 OMIM LATERALITY DEFECTS, AUTOSOMAL DOMINANT
id in db is: 296140
inserted disease: 121050 OMIM ARTHROGRYPOSIS, DISTAL, TYPE 9
id in db is: 296141
inserted disease: 264050 OMIM PRENATAL BOWING
id in db is: 296142
inserted disease: 90289 ORPHA Localized scleroderma
id in db is: 296143
inserted disease: 246550 OMIM 246550 LICHTENSTEIN SYNDROME
id in db is: 296144
inserted disease: 2573 ORPHA Moyamoya disease
id in db is: 296145
inserted disease: 163850 OMIM NODULI CUTANEI, MULTIPLE, WITH URINARY TRACT ABNORMALITIES
id in db is: 296146
inserted disease: 194190 OMIM #194190 WOLF-HIRSCHHORN SYNDROME; WHS;;CHROMOSOME 4p16.3 DELETION SYNDROME;;PITT-ROGERS-DANKS SYNDROME; PRDS;;PITT SYNDROME
id in db is: 296147
inserted disease: 261529 ORPHA Ring chromosome Y
id in db is: 296148
inserted disease: 136200 OMIM FLUSHING OF EARS AND SOMNOLENCE
id in db is: 296149
inserted disease: 208085 OMIM #208085 ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1; ARCS1;;ARC SYNDROME; ARCS
id in db is: 296150
inserted disease: 2268 ORPHA ICF syndrome
id in db is: 296151
inserted disease: 606864 OMIM CARNEY-STRATAKIS SYNDROME
id in db is: 296152
inserted disease: 3050 ORPHA Intellectual disability-hypotonia-skin hyperpigmentation syndrome
id in db is: 296153
inserted disease: 248900 OMIM MAST SYNDROME
id in db is: 296154
inserted disease: 612577 OMIM #612577 AMYOTROPHIC LATERAL SCLEROSIS 11; ALS11
id in db is: 296155
inserted disease: 190650 OMIM TRIPHALANGEAL THUMBS AND DISLOCATION OF PATELLA
id in db is: 296156
inserted disease: 615779 OMIM CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 4; CHTD4
id in db is: 296157
inserted disease: 616535 OMIM THYROID CANCER, NONMEDULLARY, 5; NMTC5
id in db is: 296158
inserted disease: 260660 OMIM #260660 COUSIN SYNDROME;;CRANIOFACIAL DYSMORPHISM, HYPOPLASIA OF SCAPULA AND PELVIS, AND SHORTSTATURE;;PELVISCAPULAR DYSPLASIA
id in db is: 296159
inserted disease: 140400 OMIM %140400 PROGRESSIVE FAMILIAL HEART BLOCK, TYPE II; PFHB2;;PFHBII
id in db is: 296160
inserted disease: 154400 OMIM ACROFACIAL DYSOSTOSIS 1, NAGER TYPE; AFD1
id in db is: 296161
inserted disease: 1883 ORPHA Ectodermal dysplasia-sensorineural deafness syndrome
id in db is: 296162
inserted disease: 300143 OMIM #300143 MENTAL RETARDATION, X-LINKED 21; MRX21;;MENTAL RETARDATION, X-LINKED 34; MRX34
id in db is: 296163
inserted disease: 613881 OMIM #613881 CARDIOMYOPATHY, DILATED, 1HH; CMD1HH
id in db is: 296164
inserted disease: 616276 OMIM COENZYME Q10 DEFICIENCY, PRIMARY, 7; COQ10D7
id in db is: 296165
inserted disease: 614212 OMIM #614212 ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 4; IIAE4
id in db is: 296166
inserted disease: 226 ORPHA Dihydropteridine reductase deficiency
id in db is: 296167
inserted disease: 604168 OMIM #604168 CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY;;CCFDN;;CATARACT, CONGENITAL, WITH FACIAL DYSMORPHISM AND NEUROPATHY
id in db is: 296168
inserted disease: 237100 OMIM 237100 HYMEN, IMPERFORATE
id in db is: 296169
inserted disease: 79134 ORPHA DEND syndrome
id in db is: 296170
inserted disease: 219600 OMIM CYSTIC DISEASE OF LUNG
id in db is: 296171
inserted disease: 85168 ORPHA Craniofacial conodysplasia
id in db is: 296172
inserted disease: 191950 OMIM URTICARIA, FAMILIAL LOCALIZED HEAT
id in db is: 296173
inserted disease: 330001 ORPHA Wild type ATTR amyloidosis
id in db is: 296174
inserted disease: 613239 OMIM THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 2; TTPP2
id in db is: 296175
inserted disease: 605594 OMIM DEAFNESS, AUTOSOMAL DOMINANT 39, WITH DENTINOGENESIS IMPERFECTA 1
id in db is: 296176
inserted disease: 163700 OMIM NIPPLES, SUPERNUMERARY
id in db is: 296177
inserted disease: 607080 OMIM 46,XY GONADAL DYSGENESIS, PARTIAL, WITH MINIFASCICULAR NEUROPATHY
id in db is: 296178
inserted disease: 611105 OMIM LEUKOENCEPHALOPATHY WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION; LBSL
id in db is: 296179
inserted disease: 549 ORPHA Legionellosis
id in db is: 296180
inserted disease: 257100 OMIM NEUTROPENIA, LETHAL CONGENITAL, WITH EOSINOPHILIA
id in db is: 296181
inserted disease: 117550 OMIM #117550 SOTOS SYNDROME 1; SOTOS1;;SOTOS SYNDROME;;CEREBRAL GIGANTISM;;CHROMOSOME 5q35 DELETION SYNDROME
id in db is: 296182
inserted disease: 181350 OMIM #181350 EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AUTOSOMAL DOMINANT; EDMD2;;EMD2;;EMERY-DREIFUSS MUSCULAR DYSTROPHY, AUTOSOMAL DOMINANT;;SCAPULOILIOPERONEAL ATROPHY WITH CARDIOPATHY;;MUSCULAR DYSTROPHY WITH EARLY CONTRACTURES AND CARDIOMYOPATHY, AUTOSOMALDOMINANT;;HAUPTMANN-THANNHAUSER MUSCULAR DYSTROPHYEMERY-DREIFUSS MUSCULAR DYSTROPHY, ATYPICAL, AUTOSOMAL RECESSIVE,INCLUDED;;EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AUTOSOMAL RECESSIVE, INCLUDED;EDMD3, INCLUDED
id in db is: 296183
inserted disease: 612067 OMIM #612067 DYSTONIA 16; DYT16
id in db is: 296184
inserted disease: 252164 ORPHA Benign schwannoma
id in db is: 296185
inserted disease: 391487 ORPHA Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
id in db is: 296186
inserted disease: 183700 OMIM SPLIT-FOOT DEFORMITY WITH MANDIBULOFACIAL DYSOSTOSIS
id in db is: 296187
inserted disease: 3221 ORPHA Generalized resistance to thyroid hormone
id in db is: 296188
inserted disease: 411777 ORPHA Generalized eruptive keratoacanthoma
id in db is: 296189
inserted disease: 218450 OMIM 218450 CRANIOSTENOSIS, SAGITTAL, WITH CONGENITAL HEART DISEASE, MENTAL DEFICIENCY,AND MANDIBULAR ANKYLOSIS;;PFEIFFER CARDIOCRANIAL SYNDROME
id in db is: 296190
inserted disease: 614417 OMIM #614417 EPILEPSY, FAMILIAL TEMPORAL LOBE, 5; ETL5
id in db is: 296191
inserted disease: 615412 OMIM #615412 CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4; CDCBM4
id in db is: 296192
inserted disease: 612736 OMIM GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY
id in db is: 296193
inserted disease: 614429 OMIM #614429 VENTRICULAR SEPTAL DEFECT 1; VSD1
id in db is: 296194
inserted disease: 615424 OMIM INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 3; IBMPFD3
id in db is: 296195
inserted disease: 1188 ORPHA Ataxia-deafness-intellectual disability syndrome
id in db is: 296196
inserted disease: 122 ORPHA Birt-Hogg-Dubé syndrome
id in db is: 296197
inserted disease: 99965 ORPHA O'Sullivan-McLeod syndrome
id in db is: 296198
inserted disease: 180080 OMIM 180080 RETINAL VENOUS BEADING
id in db is: 296199
inserted disease: 191800 OMIM URINARY BLADDER, ATONY OF
id in db is: 296200
inserted disease: 2097 ORPHA Grant syndrome
id in db is: 296201
inserted disease: 264010 OMIM 264010 PRADER-WILLI HABITUS, OSTEOPENIA, AND CAMPTODACTYLY;;URBAN-ROGERS-MEYER SYNDROME
id in db is: 296202
inserted disease: 59315 ORPHA Rhombencephalosynapsis
id in db is: 296203
inserted disease: 311360 OMIM PREMATURE OVARIAN FAILURE 1
id in db is: 296204
inserted disease: 90042 ORPHA Primary familial polycythemia
id in db is: 296205
inserted disease: 616214 OMIM HYPERPROINSULINEMIA
id in db is: 296206
inserted disease: 609625 OMIM CHROMOSOME 10q26 DELETION SYNDROME
id in db is: 296207
inserted disease: 48 ORPHA Congenital bilateral absence of vas deferens
id in db is: 296208
inserted disease: 118700 OMIM #118700 CHOREA, BENIGN HEREDITARY; BHC;;BCH;;HEREDITARY PROGRESSIVE CHOREA WITHOUT DEMENTIA
id in db is: 296209
inserted disease: 153870 OMIM %153870 MACULAR DYSTROPHY, CONCENTRIC ANNULAR;;MCDCA;;MACULAR DYSTROPHY, BENIGN CONCENTRIC ANNULAR; BCAMD
id in db is: 296210
inserted disease: 609338 OMIM #609338 CAROTID INTIMAL MEDIAL THICKNESS 1;;CIMT1;;INTIMAL MEDIAL THICKNESS OF INTERNAL CAROTID ARTERY
id in db is: 296211
inserted disease: 167750 OMIM PANCREAS, ANNULAR
id in db is: 296212
inserted disease: 511 ORPHA Maple syrup urine disease
id in db is: 296213
inserted disease: 606937 OMIM SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 5
id in db is: 296214
inserted disease: 1911 ORPHA Cocaine embryofetopathy
id in db is: 296215
inserted disease: 268650 OMIM 268650 RUDIGER SYNDROME
id in db is: 296216
inserted disease: 157150 OMIM MICROSPHEROPHAKIA WITH HERNIA
id in db is: 296217
inserted disease: 615397 OMIM #615397 MECKEL SYNDROME, TYPE 11; MKS11
id in db is: 296218
inserted disease: 182690 OMIM SPASTIC PARAPLEGIA, SENSORINEURAL DEAFNESS, MENTAL RETARDATION, AND
id in db is: 296219
inserted disease: 100800 OMIM #100800 ACHONDROPLASIA; ACH
id in db is: 296220
inserted disease: 188201 OMIM THUMBS, STIFF, WITH BRACHYDACTYLY TYPE A1 AND DEVELOPMENTAL DELAY
id in db is: 296221
inserted disease: 132300 OMIM EPILEPSY, READING
id in db is: 296222
inserted disease: 158300 OMIM #158300 ARTHROGRYPOSIS, DISTAL, TYPE 7; DA7;;TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME;;MOUTH, INABILITY TO OPEN COMPLETELY, AND SHORT FINGER-FLEXOR TENDONS;;HECHT SYNDROME
id in db is: 296223
inserted disease: 601098 OMIM CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1C; CMT1C
id in db is: 296224
inserted disease: 126850 OMIM DUODENAL ULCER, HYPERPEPSINOGENEMIC I
id in db is: 296225
inserted disease: 275300 OMIM TRACHEOBRONCHOMEGALY
id in db is: 296226
inserted disease: 2016 ORPHA Cleft palate-lateral synechia syndrome
id in db is: 296227
inserted disease: 606445 OMIM #606445 PERSISTENT POLYCLONAL B-CELL LYMPHOCYTOSIS; PPBL;;B CELL EXPANSION WITH NFKB AND T CELL ANERGY; BENTA
id in db is: 296228
inserted disease: 607584 OMIM SPASTIC PARAPLEGIA 24, AUTOSOMAL RECESSIVE
id in db is: 296229
inserted disease: 614521 OMIM #614521 THROMBOCYTHEMIA 3; THCYT3;;THROMBOCYTOSIS 3
id in db is: 296230
inserted disease: 122470 OMIM #122470 CORNELIA DE LANGE SYNDROME 1; CDLS1;;CDL; CDLS;;TYPUS DEGENERATIVUS AMSTELODAMENSIS;;DE LANGE SYNDROME;;BRACHMANN-DE LANGE SYNDROME; BDLS
id in db is: 296231
inserted disease: 611961 OMIM 611961 STEVENSON-CAREY SYNDROME
id in db is: 296232
inserted disease: 262500 OMIM GROWTH HORMONE INSENSITIVITY SYNDROME
id in db is: 296233
inserted disease: 227010 OMIM 227010 ERMINE PHENOTYPE;;PIGMENTARY DISORDER WITH HEARING LOSSBLACK LOCKS WITH ALBINISM AND DEAFNESS SYNDROME, INCLUDED; BADS, INCLUDED
id in db is: 296234
inserted disease: 614595 OMIM #614595 PREECLAMPSIA/ECLAMPSIA 5; PEE5
id in db is: 296235
inserted disease: 602557 OMIM 602557 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SHOHAT TYPE;;SEMD, SHOHAT TYPE
id in db is: 296236
inserted disease: 603552 OMIM #603552 HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL4;;HPLH4;;HLH4
id in db is: 296237
inserted disease: 184255 OMIM SPONDYLOMETAPHYSEAL DYSPLASIA, CORNER FRACTURE TYPE
id in db is: 296238
inserted disease: 270750 OMIM %270750 SPASTIC PARAPLEGIA 23; SPG23;;SPASTIC PARAPLEGIA WITH PIGMENTARY ABNORMALITIES;;SPASTIC PARAPARESIS, VITILIGO, PREMATURE GRAYING, CHARACTERISTIC FACIES;;LISON SYNDROME
id in db is: 296239
inserted disease: 758 ORPHA Pseudoxanthoma elasticum
id in db is: 296240
inserted disease: 108100 OMIM ARTHRITIS, SACROILIAC
id in db is: 296241
inserted disease: 608710 OMIM GRANULOMATOSIS WITH POLYANGIITIS
id in db is: 296242
inserted disease: 612840 OMIM LEUKOCYTE ADHESION DEFICIENCY, TYPE III; LAD3
id in db is: 296243
inserted disease: 93402 ORPHA Syndactyly type 1
id in db is: 296244
inserted disease: 194000 OMIM WIDOW'S PEAK
id in db is: 296245
inserted disease: 128980 OMIM %128980 EARLOBES, THICKENED, WITH CONDUCTIVE DEAFNESS FROM INCUDOSTAPEDIALABNORMALITIES
id in db is: 296246
inserted disease: 610896 OMIM #610896 BRANCHIOOTORENAL SYNDROME 2; BOR2
id in db is: 296247
inserted disease: 612244 OMIM #612244 INFLAMMATORY BOWEL DISEASE 13; IBD13
id in db is: 296248
inserted disease: 94064 ORPHA Deafness-infertility syndrome
id in db is: 296249
inserted disease: 600118 OMIM #600118 WARBURG MICRO SYNDROME 1; WARBM1;;MICRO SYNDROME
id in db is: 296250
inserted disease: 79410 ORPHA Pretibial dystrophic epidermolysis bullosa
id in db is: 296251
inserted disease: 85330 ORPHA X-linked intellectual disability-corpus callosum agenesis-spastic quadriparesis syndrome
id in db is: 296252
inserted disease: 1293 ORPHA Brachyolmia
id in db is: 296253
inserted disease: 602081 OMIM SPEECH-LANGUAGE DISORDER 1
id in db is: 296254
inserted disease: 602093 OMIM #602093 CONE DYSTROPHY 3; COD3;;RETINAL CONE DYSTROPHYCONE-ROD DYSTROPHY 14, INCLUDED; CORD14, INCLUDED
id in db is: 296255
inserted disease: 609253 OMIM FEBRILE SEIZURES, FAMILIAL, 6; FEB6
id in db is: 296256
inserted disease: 929 ORPHA Achalasia-microcephaly syndrome
id in db is: 296257
inserted disease: 609265 OMIM #609265 LI-FRAUMENI SYNDROME 2; LFS2
id in db is: 296258
inserted disease: 235 ORPHA Dubowitz syndrome
id in db is: 296259
inserted disease: 271950 OMIM 271950 SUBAORTIC STENOSIS, MEMBRANOUS
id in db is: 296260
inserted disease: 312080 OMIM #312080 PELIZAEUS-MERZBACHER DISEASE; PMD;;LEUKODYSTROPHY, HYPOMYELINATING, 1; HLD1
id in db is: 296261
inserted disease: 222448 OMIM #222448 DONNAI-BARROW SYNDROME;;FACIOOCULOACOUSTICORENAL SYNDROME;;DBS/FOAR SYNDROME;;DIAPHRAGMATIC HERNIA, EXOMPHALOS, ABSENT CORPUS CALLOSUM, HYPERTELORISM,MYOPIA, SENSORINEURAL DEAFNESS, AND PROTEINURIA
id in db is: 296262
inserted disease: 222900 OMIM SUCRASE-ISOMALTASE DEFICIENCY, CONGENITAL
id in db is: 296263
inserted disease: 250215 OMIM METAPHYSEAL ACROSCYPHODYSPLASIA
id in db is: 296264
inserted disease: 502 ORPHA Langer-Giedion syndrome
id in db is: 296265
inserted disease: 613251 OMIM #613251 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 14; CMH14
id in db is: 296266
inserted disease: 311100 OMIM OPTIC ATROPHY--SPASTIC PARAPLEGIA SYNDROME
id in db is: 296267
inserted disease: 2007 ORPHA Alar cartilages hypoplasia-coloboma-telecanthus syndrome
id in db is: 296268
inserted disease: 1778 ORPHA Facial dysmorphism-shawl scrotum-joint laxity syndrome
id in db is: 296269
inserted disease: 3225 ORPHA Hearing loss-familial salivary gland insensitivity to aldosterone syndrome
id in db is: 296270
inserted disease: 602579 OMIM #602579 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ib; CDG1B;;CDG Ib; CDGIb;;CDG, GASTROINTESTINAL TYPE;;MANNOSEPHOSPHATE ISOMERASE DEFICIENCY;;MPI DEFICIENCY;;PROTEIN-LOSING ENTEROPATHY-HEPATIC FIBROSIS SYNDROME;;SAGUENAY-LAC SAINT-JEAN SYNDROME; SLSJ SYNDROME
id in db is: 296271
inserted disease: 33001 ORPHA Lymphedema-distichiasis syndrome
id in db is: 296272
inserted disease: 324703 ORPHA ABetaL34V amyloidosis
id in db is: 296273
inserted disease: 610651 OMIM XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP B
id in db is: 296274
inserted disease: 614980 OMIM #614980 CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 2; CHTD2
id in db is: 296275
inserted disease: 612513 OMIM #612513 CHROMOSOME 2p16.1-p15 DELETION SYNDROME
id in db is: 296276
inserted disease: 615436 OMIM #615436 AORTIC ANEURYSM, FAMILIAL THORACIC 8; AAT8
id in db is: 296277
inserted disease: 614091 OMIM #614091 SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY; SRTD7;;SHORT RIB-POLYDACTYLY SYNDROME, TYPE V; SRPS5
id in db is: 296278
inserted disease: 1811 ORPHA Odontomicronychial dysplasia
id in db is: 296279
inserted disease: 613086 OMIM #613086 GLAUCOMA 3, PRIMARY CONGENITAL, D; GLC3D
id in db is: 296280
inserted disease: 300861 OMIM %300861 MENTAL RETARDATION, X-LINKED, SYNDROMIC, CHUDLEY-SCHWARTZ TYPE; MRXSCS;;MENTAL RETARDATION, X-LINKED, WITH SEIZURES, HYPOGAMMAGLOBULINEMIA,AND GAIT DISTURBANCE
id in db is: 296281
inserted disease: 93930 ORPHA Bladder exstrophy
id in db is: 296282
inserted disease: 107741 OMIM APOLIPOPROTEIN E
id in db is: 296283
inserted disease: 615877 OMIM MICROPHTHALMIA, SYNDROMIC 14; MCOPS14
id in db is: 296284
inserted disease: 259720 OMIM OSTEOPETROSIS, AUTOSOMAL RECESSIVE 5; OPTB5
id in db is: 296285
inserted disease: 208200 OMIM ARTHROGRYPOSIS-LIKE DISORDER
id in db is: 296286
inserted disease: 129550 OMIM ECTODERMAL DYSPLASIA WITH ADRENAL CYST
id in db is: 296287
inserted disease: 207790 OMIM 207790 ARACHNOID CYSTS, INTRACRANIAL
id in db is: 296288
inserted disease: 611588 OMIM #611588 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 4; MDDGC4;;MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2M; LGMD2M
id in db is: 296289
inserted disease: 199310 ORPHA Tetragametic chimerism
id in db is: 296290
inserted disease: 319487 ORPHA Familial papillary or follicular thyroid carcinoma
id in db is: 296291
inserted disease: 179280 OMIM RADIAL-RENAL SYNDROME
id in db is: 296292
inserted disease: 615510 OMIM #615510 ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME; AAMR
id in db is: 296293
inserted disease: 1702 ORPHA Non-distal trisomy 13q
id in db is: 296294
inserted disease: 602 ORPHA GNE myopathy
id in db is: 296295
inserted disease: 225280 OMIM #225280 EEM SYNDROME;;ECTODERMAL DYSPLASIA, ECTRODACTYLY, AND MACULAR DYSTROPHY
id in db is: 296296
inserted disease: 614097 OMIM #614097 ACATALASEMIA;;ACATALASIA;;CATALASE DEFICIENCY
id in db is: 296297
inserted disease: 763 ORPHA Pycnodysostosis
id in db is: 296298
inserted disease: 604919 OMIM BECKER NEVUS SYNDROME
id in db is: 296299
inserted disease: 609304 OMIM #609304 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 3; EIEE3
id in db is: 296300
inserted disease: 1397 ORPHA Cerebellum agenesis-hydrocephaly syndrome
id in db is: 296301
inserted disease: 578 ORPHA Mucolipidosis type IV
id in db is: 296302
inserted disease: 221750 OMIM DEAFNESS, SENSORINEURAL, WITH PITUITARY DWARFISM
id in db is: 296303
inserted disease: 99874 ORPHA Adult pulmonary Langerhans cell histiocytosis
id in db is: 296304
inserted disease: 269700 OMIM LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2; CGL2
id in db is: 296305
inserted disease: 613080 OMIM #613080 46,XY SEX REVERSAL 5; SRXY5;;46,XY SEX REVERSAL, CBX2-RELATED;;46,XY GONADAL DYSGENESIS, COMPLETE, CBX2-RELATED;;SEX REVERSAL, XY, CBX2-RELATED;;DISORDER OF SEX DEVELOPMENT, 46,XY, CBX2-RELATED
id in db is: 296306
inserted disease: 615871 OMIM EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24; EIEE24
id in db is: 296307
inserted disease: 613404 OMIM ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2; ARCS2
id in db is: 296308
inserted disease: 616437 OMIM FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3; FTDALS3
id in db is: 296309
inserted disease: 225100 OMIM ECTOPIA LENTIS
id in db is: 296310
inserted disease: 146450 OMIM %146450 HYPOSPADIAS 3, AUTOSOMAL; HYSP3
id in db is: 296311
inserted disease: 153600 OMIM MACROGLOBULINEMIA, WALDENSTROM, SUSCEPTIBILITY TO, 1
id in db is: 296312
inserted disease: 97927 ORPHA Peripheral resistance to thyroid hormones
id in db is: 296313
inserted disease: 616511 OMIM MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 14; MODY14
id in db is: 296314
inserted disease: 249700 OMIM #249700 LANGER MESOMELIC DYSPLASIA; LMD;;DYSCHONDROSTEOSIS, HOMOZYGOUS;;MESOMELIC DWARFISM OF THE HYPOPLASTIC ULNA, FIBULA, AND MANDIBLE TYPE
id in db is: 296315
inserted disease: 613835 OMIM #613835 LEBER CONGENITAL AMAUROSIS 8; LCA8
id in db is: 296316
inserted disease: 602459 OMIM #602459 DEAFNESS, AUTOSOMAL DOMINANT 15; DFNA15
id in db is: 296317
inserted disease: 148800 OMIM KLEEBLATTSCHAEDEL SYNDROME
id in db is: 296318
inserted disease: 254500 OMIM #254500 MYELOMA, MULTIPLEAMYLOIDOSIS, SYSTEMIC, INCLUDED; AL, INCLUDED;;AL AMYLOIDOSIS, INCLUDED
id in db is: 296319
inserted disease: 175850 OMIM POROKERATOSIS PLANTARIS, PALMARIS, ET DISSEMINATA
id in db is: 296320
inserted disease: 44890 ORPHA Gastrointestinal stromal tumor
id in db is: 296321
inserted disease: 3164 ORPHA Omphalocele syndrome, Shprintzen-Goldberg type
id in db is: 296322
inserted disease: 592 ORPHA Macrophagic myofasciitis
id in db is: 296323
inserted disease: 133600 OMIM EXOSTOSES OF HEEL
id in db is: 296324
inserted disease: 300580 OMIM MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION, X-LINKED; CFTDX
id in db is: 296325
inserted disease: 600360 OMIM APLASIA CUTIS CONGENITA OF LIMBS, RECESSIVE
id in db is: 296326
inserted disease: 601287 OMIM #601287 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2F; LGMD2F
id in db is: 296327
inserted disease: 309100 OMIM MACULAR DYSTROPHY, X-LINKED
id in db is: 296328
inserted disease: 609454 OMIM SUPRANUCLEAR PALSY, PROGRESSIVE, 2; PSNP2
id in db is: 296329
inserted disease: 1193 ORPHA Atkin-Flaitz syndrome
id in db is: 296330
inserted disease: 615546 OMIM VAN MALDERGEM SYNDROME 2; VMLDS2
id in db is: 296331
inserted disease: 156310 OMIM METACHROMATIC LEUKODYSTROPHY, ADULT-ONSET, WITH NORMAL ARYLSULFATASEA
id in db is: 296332
inserted disease: 614860 OMIM DYSTONIA 23; DYT23
id in db is: 296333
inserted disease: 1954 ORPHA Congenital lethal erythroderma
id in db is: 296334
inserted disease: 170500 OMIM HYPERKALEMIC PERIODIC PARALYSIS; HYPP
id in db is: 296335
inserted disease: 300751 OMIM #300751 ANEMIA, SIDEROBLASTIC, X-LINKED; XLSA;;ANEMIA, HYPOCHROMIC; ANH1;;ANEMIA, HEREDITARY SIDEROBLASTIC;;HEREDITARY IRON-LOADING ANEMIA
id in db is: 296336
inserted disease: 119530 OMIM %119530 OROFACIAL CLEFT 1; OFC1;;CLEFT LIP WITH OR WITHOUT CLEFT PALATE, NONSYNDROMIC, 1;;OROFACIAL CLEFT, NONSYNDROMIC; OFC;;CLEFT LIP/PALATE, NONSYNDROMIC
id in db is: 296337
inserted disease: 614866 OMIM #614866 PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER); PBD5APEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 5, INCLUDED;CG5, INCLUDED;;PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 10, INCLUDED;CG10, INCLUDED;;PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP F, INCLUDED;CGF, INCLUDED
id in db is: 296338
inserted disease: 1203 ORPHA Duodenal atresia
id in db is: 296339
inserted disease: 245100 OMIM %245100 RICHARDS-RUNDLE SYNDROME; RRNS;;ATAXIA-DEAFNESS-MENTAL RETARDATION SYNDROME
id in db is: 296340
inserted disease: 166450 OMIM OSTEOMESOPYKNOSIS
id in db is: 296341
inserted disease: 610220 OMIM #610220 DEAFNESS, AUTOSOMAL RECESSIVE 59; DFNB59
id in db is: 296342
inserted disease: 1159 ORPHA Progressive pseudorheumatoid arthropathy of childhood
id in db is: 296343
inserted disease: 93260 ORPHA Pfeiffer syndrome type 3
id in db is: 296344
inserted disease: 124200 OMIM DARIER-WHITE DISEASE
id in db is: 296345
inserted disease: 139393 OMIM GUILLAIN-BARRE SYNDROME, FAMILIAL
id in db is: 296346
inserted disease: 302900 OMIM 302900 CHARCOT-MARIE-TOOTH PERONEAL MUSCULAR ATROPHY AND FRIEDREICH ATAXIA,COMBINED
id in db is: 296347
inserted disease: 613090 OMIM #613090 BARTTER SYNDROME, TYPE 4B;;BARTTER SYNDROME, INFANTILE, WITH SENSORINEURAL DEAFNESS
id in db is: 296348
inserted disease: 218300 OMIM 218300 CRANIODIAPHYSEAL DYSPLASIA; CDD
id in db is: 296349
inserted disease: 300299 OMIM #300299 NEUTROPENIA, SEVERE CONGENITAL, X-LINKED; SCNX;;XLN
id in db is: 296350
inserted disease: 615500 OMIM CILIARY DYSKINESIA, PRIMARY, 26; CILD26
id in db is: 296351
inserted disease: 1940 ORPHA Shoulder and thorax deformity-congenital heart disease syndrome
id in db is: 296352
inserted disease: 300607 OMIM #300607 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 8; EIEE8;;HYPEREKPLEXIA AND EPILEPSY
id in db is: 296353
inserted disease: 611277 OMIM #611277 GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 3; GEFSP3;;GEFS+, TYPE 3; GEFS+3FEBRILE SEIZURES, FAMILIAL, 8, INCLUDED; FEB8, INCLUDED
id in db is: 296354
inserted disease: 79276 ORPHA Acute intermittent porphyria
id in db is: 296355
inserted disease: 306400 OMIM GRANULOMATOUS DISEASE, CHRONIC, X-LINKED
id in db is: 296356
inserted disease: 1568 ORPHA X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome
id in db is: 296357
inserted disease: 261483 ORPHA Xq27.3q28 duplication syndrome
id in db is: 296358
inserted disease: 218340 OMIM CRANIOFACIAL DYSMORPHISM WITH OCULAR COLOBOMA, ABSENT CORPUS CALLOSUM,AND AORTIC DILATATION
id in db is: 296359
inserted disease: 2321 ORPHA Jung-Wolff-Back-Stahl syndrome
id in db is: 296360
inserted disease: 616126 OMIM #616126 IMMUNODEFICIENCY 38; IMD38;;IMMUNODEFICIENCY 38, MYCOBACTERIOSIS, AUTOSOMAL RECESSIVE;;ISG15 DEFICIENCY, AUTOSOMAL RECESSIVE
id in db is: 296361
inserted disease: 190500 OMIM TRIPHALANGEAL THUMB WITH DOUBLE PHALANGES
id in db is: 296362
inserted disease: 605289 OMIM SPLIT-HAND/FOOT MALFORMATION 4; SHFM4
id in db is: 296363
inserted disease: 611863 OMIM MICROTIA - EYE COLOBOMA - IMPERFORATION OF THE NASOLACRIMAL DUCT
id in db is: 296364
inserted disease: 126800 OMIM DUANE RETRACTION SYNDROME 1
id in db is: 296365
inserted disease: 607107 OMIM %607107 NASOPHARYNGEAL CARCINOMA;;NPCA;;NPC;;NASOPHARYNGEAL CANCERNASOPHARYNGEAL CARCINOMA, SUSCEPTIBILITY TO, 1, INCLUDED; NPCA1, INCLUDED
id in db is: 296366
inserted disease: 614820 OMIM #614820 ALTERNATING HEMIPLEGIA OF CHILDHOOD 2; AHC2
id in db is: 296367
inserted disease: 2635 ORPHA Metatropic dysplasia
id in db is: 296368
inserted disease: 213010 OMIM CEREBELLAR VERMIS APLASIA WITH ASSOCIATED FEATURES SUGGESTING SMITH-LEMLI-OPITZSYNDROME AND MECKEL SYNDROME
id in db is: 296369
inserted disease: 94068 ORPHA Spondyloepiphyseal dysplasia congenita
id in db is: 296370
inserted disease: 613119 OMIM #613119 BRUGADA SYNDROME 6; BRGDA6
id in db is: 296371
inserted disease: 116870 OMIM CELIAC ARTERY STENOSIS FROM COMPRESSION BY MEDIAN ARCUATE LIGAMENTOF DIAPHRAGM
id in db is: 296372
inserted disease: 156580 OMIM %156580 MICROCEPHALY, AUTOSOMAL DOMINANT
id in db is: 296373
inserted disease: 610380 OMIM #610380 LOEYS-DIETZ SYNDROME, TYPE 2B; LDS2B;;AORTIC ANEURYSM, FAMILIAL THORACIC 3; AAT3;;MARFAN SYNDROME, TYPE II, FORMERLY
id in db is: 296374
inserted disease: 113650 OMIM BRANCHIOOTORENAL SYNDROME 1
id in db is: 296375
inserted disease: 615821 OMIM CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS; DCWHKTA
id in db is: 296376
inserted disease: 40 ORPHA Acromesomelic dysplasia, Maroteaux type
id in db is: 296377
inserted disease: 79129 ORPHA Trichodysplasia-amelogenesis imperfecta syndrome
id in db is: 296378
inserted disease: 615235 OMIM #615235 CARDIOMYOPATHY, DILATED, 1JJ; CMD1JJ
id in db is: 296379
inserted disease: 224410 OMIM #224410 DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE; DDSH;;DYSSEGMENTAL DWARFISM, SILVERMAN-HANDMAKER TYPE;;ANISOSPONDYLIC CAMPTOMICROMELIC DWARFISM, SILVERMAN-HANDMAKER TYPE
id in db is: 296380
inserted disease: 601853 OMIM 601853 CEREBELLOTRIGEMINAL DERMAL DYSPLASIA;;GOMEZ-LOPEZ-HERNANDEZ SYNDROME;;GLH SYNDROME;;CEREBELLO-TRIGEMINAL-DERMAL DYSPLASIA
id in db is: 296381
inserted disease: 615225 OMIM #615225 CORNEAL INTRAEPITHELIAL DYSKERATOSIS AND ECTODERMAL DYSPLASIA; CIDED
id in db is: 296382
inserted disease: 168549 ORPHA Axial spondylometaphyseal dysplasia
id in db is: 296383
inserted disease: 604278 OMIM RENAL TUBULAR ACIDOSIS, PROXIMAL, WITH OCULAR ABNORMALITIES AND MENTALRETARDATION
id in db is: 296384
inserted disease: 168829 ORPHA Primary peritoneal carcinoma
id in db is: 296385
inserted disease: 444490 ORPHA Familial chylomicronemia syndrome
id in db is: 296386
inserted disease: 277480 OMIM VON WILLEBRAND DISEASE, RECESSIVE FORM
id in db is: 296387
inserted disease: 158668 ORPHA Epidermolysis bullosa simplex due to plakophilin deficiency
id in db is: 296388
inserted disease: 487 ORPHA Krabbe disease
id in db is: 296389
inserted disease: 616083 OMIM MENTAL RETARDATION, AUTOSOMAL DOMINANT 30; MRD30
id in db is: 296390
inserted disease: 89842 ORPHA Recessive dystrophic epidermolysis bullosa-generalized other
id in db is: 296391
inserted disease: 93387 ORPHA Brachydactyly type E
id in db is: 296392
inserted disease: 85273 ORPHA X-linked intellectual disability, Abidi type
id in db is: 296393
inserted disease: 137040 OMIM GALLBLADDER, AGENESIS OF
id in db is: 296394
inserted disease: 300928 OMIM MENTAL RETARDATION, X-LINKED 101; MRX101
id in db is: 296395
inserted disease: 614870 OMIM #614870 PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER); PBD6APEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 7, INCLUDED;CG7, INCLUDED;;PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP B, INCLUDED;CGB, INCLUDED
id in db is: 296396
inserted disease: 2715 ORPHA Oculorenocerebellar syndrome
id in db is: 296397
inserted disease: 150900 OMIM LENTIGINES
id in db is: 296398
inserted disease: 615550 OMIM #615550 DIAMOND-BLACKFAN ANEMIA 12; DBA12
id in db is: 296399
inserted disease: 64755 ORPHA Becker nevus syndrome
id in db is: 296400
inserted disease: 300009 OMIM DENT DISEASE 1
id in db is: 296401
inserted disease: 54 DECIPHER Angelman syndrome (Type 2)
id in db is: 296402
inserted disease: 236900 OMIM HYDROXYLYSINURIA
id in db is: 296403
inserted disease: 261102 ORPHA Distal 7q11.23 microduplication syndrome
id in db is: 296404
inserted disease: 166400 OMIM OSTEOMAS OF MANDIBLE
id in db is: 296405
inserted disease: 99014 ORPHA X-linked Charcot-Marie-Tooth disease type 5
id in db is: 296406
inserted disease: 85164 ORPHA Camptodactyly-tall stature-scoliosis-hearing loss syndrome
id in db is: 296407
inserted disease: 116860 OMIM #116860 CEREBRAL CAVERNOUS MALFORMATIONS; CCM;;CAVERNOUS ANGIOMA, FAMILIAL;;CAVERNOUS ANGIOMATOUS MALFORMATIONS; CAM;;CEREBRAL CAPILLARY MALFORMATIONSCEREBRAL CAVERNOUS MALFORMATIONS 1, INCLUDED; CCM1, INCLUDED;;CAVERNOUS MALFORMATIONS OF CNS AND RETINA, INCLUDED;;HYPERKERATOTIC CUTANEOUS CAPILLARY-VENOUS MALFORMATIONS ASSOCIATEDWITH CEREBRAL CAPILLARY MALFORMATIONS, INCLUDED
id in db is: 296408
inserted disease: 616116 OMIM MENTAL RETARDATION, AUTOSOMAL RECESSIVE 46; MRT46
id in db is: 296409
inserted disease: 614087 OMIM #614087 FANCONI ANEMIA, COMPLEMENTATION GROUP M; FANCM
id in db is: 296410
inserted disease: 169150 OMIM #169150 MACULAR DYSTROPHY, PATTERNED, 1; MDPT1;;PATTERNED DYSTROPHY OF RETINAL PIGMENT EPITHELIUM;;MACULAR DYSTROPHY, BUTTERFLY-SHAPED PIGMENTARY;;BUTTERFLY DYSTROPHY OF RETINAL PIGMENT EPITHELIUM
id in db is: 296411
inserted disease: 258865 OMIM OROFACIODIGITAL SYNDROME IX
id in db is: 296412
inserted disease: 613227 OMIM #613227 CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME3; CAMRQ3;;CEREBELLAR ATAXIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDALLOCOMOTION 3
id in db is: 296413
inserted disease: 100700 OMIM ACHARD SYNDROME
id in db is: 296414
inserted disease: 305600 OMIM FOCAL DERMAL HYPOPLASIA; FDH
id in db is: 296415
inserted disease: 614224 OMIM #614224 RETINAL ARTERIAL MACROANEURYSM WITH SUPRAVALVULAR PULMONIC STENOSIS;RAMSVPS
id in db is: 296416
inserted disease: 173200 OMIM #173200 PITYRIASIS RUBRA PILARIS; PRP
id in db is: 296417
inserted disease: 611548 OMIM PREMATURE OVARIAN FAILURE 5; POF5
id in db is: 296418
inserted disease: 169 ORPHA Ringed hair disease
id in db is: 296419
inserted disease: 90290 ORPHA CREST syndrome
id in db is: 296420
inserted disease: 683 ORPHA Progressive supranuclear palsy
id in db is: 296421
inserted disease: 276821 OMIM ULNAR HYPOPLASIA WITH MENTAL RETARDATION
id in db is: 296422
inserted disease: 614298 OMIM NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4; NBIA4
id in db is: 296423
inserted disease: 605432 OMIM RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA
id in db is: 296424
inserted disease: 168400 OMIM #168400 PARASTREMMATIC DWARFISM
id in db is: 296425
inserted disease: 1773 ORPHA Sacrococcygeal dysgenesis association
id in db is: 296426
inserted disease: 658 ORPHA Non-histaminic angioedema
id in db is: 296427
inserted disease: 616734 OMIM #616734 SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2; CSCSC2
id in db is: 296428
inserted disease: 143465 OMIM ATTENTION DEFICIT-HYPERACTIVITY DISORDER
id in db is: 296429
inserted disease: 231237 ORPHA Delta-beta-thalassemia
id in db is: 296430
inserted disease: 264060 OMIM PREPAPILLARY VASCULAR LOOPS
id in db is: 296431
inserted disease: 1706 ORPHA Mosaic trisomy 15
id in db is: 296432
inserted disease: 79481 ORPHA Pemphigus foliaceus
id in db is: 296433
inserted disease: 91351 ORPHA Pituitary dermoid and epidermoid cysts
id in db is: 296434
inserted disease: 137599 ORPHA Stromal keratitis
id in db is: 296435
inserted disease: 614882 OMIM #614882 PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER); PBD10APEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 12, INCLUDED;CG12, INCLUDED;;PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP G, INCLUDED;CGG, INCLUDED
id in db is: 296436
inserted disease: 224300 OMIM DYSOSTEOSCLEROSIS
id in db is: 296437
inserted disease: 614872 OMIM #614872 PEROXISOME BIOGENESIS DISORDER 7A (ZELLWEGER); PBD7APEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 8, INCLUDED;CG8, INCLUDED;;PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP A, INCLUDED;CGA, INCLUDED
id in db is: 296438
inserted disease: 177850 OMIM #177850 PSEUDOXANTHOMA ELASTICUM, FORME FRUSTEPSEUDOXANTHOMA ELASTICUM, HETEROZYGOUS, INCLUDED
id in db is: 296439
inserted disease: 307150 OMIM #307150 HYPERTRICHOSIS, CONGENITAL GENERALIZED; HTC2;;CHROMOSOME Xq27.1 INTERCHROMOSOMAL INSERTION SYNDROME;;CGH;;HCG
id in db is: 296440
inserted disease: 601544 OMIM DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 3
id in db is: 296441
inserted disease: 604232 OMIM #604232 LEBER CONGENITAL AMAUROSIS 3; LCA3RETINITIS PIGMENTOSA, JUVENILE, SPATA7-RELATED, INCLUDED
id in db is: 296442
inserted disease: 251220 OMIM MICROCEPHALY-CARDIOMYOPATHY
id in db is: 296443
inserted disease: 2116 ORPHA Hartnup disease
id in db is: 296444
inserted disease: 614832 OMIM #614832 AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA4; AI2A4
id in db is: 296445
inserted disease: 1892 ORPHA Ectrodactyly-polydactyly syndrome
id in db is: 296446
inserted disease: 311250 OMIM #311250 ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO;;ORNITHINE CARBAMOYLTRANSFERASE DEFICIENCY;;OTC DEFICIENCYVALPROATE SENSITIVITY, INCLUDED
id in db is: 296447
inserted disease: 1858 ORPHA Skeletal dysplasia-epilepsy-short stature syndrome
id in db is: 296448
inserted disease: 263534 ORPHA Acral peeling skin syndrome
id in db is: 296449
inserted disease: 649 ORPHA Norrie disease
id in db is: 296450
inserted disease: 2107 ORPHA Hall-Riggs syndrome
id in db is: 296451
inserted disease: 615723 OMIM #615723 PREMATURE OVARIAN FAILURE 8; POF8
id in db is: 296452
inserted disease: 182090 ORPHA Pulmonary arterial hypertension
id in db is: 296453
inserted disease: 140300 OMIM HASHIMOTO THYROIDITIS
id in db is: 296454
inserted disease: 65 DECIPHER ATR-16 syndrome
id in db is: 296455
inserted disease: 3068 ORPHA Intellectual disability-myopathy-short stature-endocrine defect syndrome
id in db is: 296456
inserted disease: 186550 OMIM SYNOSTOSIS, CARPAL, WITH DYSPLASTIC ELBOW JOINTS AND BRACHYDACTYLY
id in db is: 296457
inserted disease: 241200 OMIM BARTTER SYNDROME, ANTENATAL, TYPE 2
id in db is: 296458
inserted disease: 610419 OMIM DEAFNESS, AUTOSOMAL RECESSIVE 68
id in db is: 296459
inserted disease: 616370 OMIM MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 4; MMDS4
id in db is: 296460
inserted disease: 223100 OMIM LACTASE PERSISTENCE
id in db is: 296461
inserted disease: 613737 OMIM ACNE INVERSA, FAMILIAL, 3; ACNINV3
id in db is: 296462
inserted disease: 614075 OMIM #614075 HERMANSKY-PUDLAK SYNDROME 6; HPS6
id in db is: 296463
inserted disease: 329249 ORPHA Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency
id in db is: 296464
inserted disease: 270600 OMIM SPASTIC DIPLEGIA, INFANTILE TYPE
id in db is: 296465
inserted disease: 613981 OMIM #613981 HYPOTRICHOSIS 3; HYPT3;;HYPOTRICHOSIS SIMPLEX OF THE SCALP 2; HTSS2
id in db is: 296466
inserted disease: 95720 ORPHA Thyroid hypoplasia
id in db is: 296467
inserted disease: 609452 OMIM #609452 MYOPATHY, MYOFIBRILLAR, 4; MFM4;;MYOPATHY, MYOFIBRILLAR, ZASP-RELATED
id in db is: 296468
inserted disease: 39041 ORPHA Omenn syndrome
id in db is: 296469
inserted disease: 1535 ORPHA Craniosynostosis-dysmorphism-brachydactyly syndrome
id in db is: 296470
inserted disease: 260000 OMIM HYPEROXALURIA, PRIMARY, TYPE II; HP2
id in db is: 296471
inserted disease: 85335 ORPHA Fried syndrome
id in db is: 296472
inserted disease: 1088 ORPHA Short stature-heart defect-craniofacial anomalies syndrome
id in db is: 296473
inserted disease: 601412 OMIM DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 7
id in db is: 296474
inserted disease: 87876 ORPHA Sialidosis type 2
id in db is: 296475
inserted disease: 128800 OMIM EAR WITHOUT HELIX
id in db is: 296476
inserted disease: 60030 ORPHA Loeys-Dietz syndrome
id in db is: 296477
inserted disease: 612278 OMIM #612278 INFLAMMATORY BOWEL DISEASE 19; IBD19
id in db is: 296478
inserted disease: 478 ORPHA Kallmann syndrome
id in db is: 296479
inserted disease: 602071 OMIM BROAD TERMINAL PHALANGES, FAMILIAL
id in db is: 296480
inserted disease: 506 ORPHA Leigh syndrome
id in db is: 296481
inserted disease: 614063 OMIM #614063 N-ACETYLASPARTATE DEFICIENCY; NACED;;NAA DEFICIENCY;;HYPOACETYLASPARTIA
id in db is: 296482
inserted disease: 314652 ORPHA Variant ABeta2M amyloidosis
id in db is: 296483
inserted disease: 79234 ORPHA Crigler-Najjar syndrome type 1
id in db is: 296484
inserted disease: 103400 OMIM AINHUM
id in db is: 296485
inserted disease: 600274 OMIM FRONTOTEMPORAL DEMENTIA; FTD
id in db is: 296486
inserted disease: 69087 ORPHA Naegeli-Franceschetti-Jadassohn syndrome
id in db is: 296487
inserted disease: 613869 OMIM #613869 MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTONIC, ALPHA-B CRYSTALLIN-RELATED;;MFM, FATAL INFANTILE HYPERTONIC, ALPHA-B CRYSTALLIN-RELATED
id in db is: 296488
inserted disease: 616425 OMIM 46,XY SEX REVERSAL 10; SRXY10
id in db is: 296489
inserted disease: 274500 OMIM THYROID HORMONOGENESIS, GENETIC DEFECT IN, 2A
id in db is: 296490
inserted disease: 102200 OMIM #102200 PITUITARY ADENOMA, GROWTH HORMONE-SECRETING;;SOMATOTROPINOMA, FAMILIAL ISOLATED; FIS;;ISOLATED FAMILIAL SOMATOTROPINOMA; IFS;;SOMATOTROPHINOMA, FAMILIAL;;ACROMEGALY DUE TO PITUITARY ADENOMAPITUITARY ADENOMA PREDISPOSITION, INCLUDED; PAP, INCLUDED;;PITUITARY ADENOMA, FAMILIAL ISOLATED, INCLUDED; FIPA, INCLUDED;;SOMATOSTATIN ANALOG, RESISTANCE TO, INCLUDED
id in db is: 296491
inserted disease: 228940 OMIM 228940 FIBULOULNAR APLASIA OR HYPOPLASIA WITH RENAL ABNORMALITIES
id in db is: 296492
inserted disease: 600561 OMIM SPONDYLOEPIPHYSEAL DYSPLASIA WITH ATLANTOAXIAL INSTABILITY
id in db is: 296493
inserted disease: 124490 OMIM 124490 DEAFNESS, CONDUCTIVE STAPEDIAL, WITH EAR MALFORMATION AND FACIAL PALSY
id in db is: 296494
inserted disease: 204300 OMIM CEROID LIPOFUSCINOSIS, NEURONAL, 4A, AUTOSOMAL RECESSIVE
id in db is: 296495
inserted disease: 226316 ORPHA Genetic transient congenital hypothyroidism
id in db is: 296496
inserted disease: 158310 OMIM MUCOEPITHELIAL DYSPLASIA, HEREDITARY
id in db is: 296497
inserted disease: 615522 OMIM #615522 COLE DISEASE; COLED;;GUTTATE HYPOPIGMENTATION AND PUNCTATE PALMOPLANTAR KERATODERMA WITHOR WITHOUT ECTOPIC CALCIFICATION
id in db is: 296498
inserted disease: 126840 OMIM DUODENAL ULCER DUE TO ANTRAL G-CELL HYPERFUNCTION
id in db is: 296499
inserted disease: 130900 OMIM #130900 AMELOGENESIS IMPERFECTA, TYPE III; AI3;;AMELOGENESIS IMPERFECTA, HYPOCALCIFICATION TYPE, AUTOSOMAL DOMINANT;ADHCAI;;AMELOGENESIS IMPERFECTA, HYPOMINERALIZATION TYPE
id in db is: 296500
inserted disease: 188400 OMIM #188400 DIGEORGE SYNDROME; DGS;;CHROMOSOME 22q11.2 DELETION SYNDROME;;HYPOPLASIA OF THYMUS AND PARATHYROIDS;;THIRD AND FOURTH PHARYNGEAL POUCH SYNDROMEDIGEORGE SYNDROME CHROMOSOME REGION, INCLUDED; DGCR, INCLUDED;;TAKAO VCF SYNDROME, INCLUDED;;CATCH22, INCLUDED
id in db is: 296501
inserted disease: 615596 OMIM #615596 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw; CDG1W;;CDG Iw; CDGIw
id in db is: 296502
inserted disease: 551500 OMIM NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA
id in db is: 296503
inserted disease: 2473 ORPHA McKusick-Kaufman syndrome
id in db is: 296504
inserted disease: 2796 ORPHA Pachydermoperiostosis
id in db is: 296505
inserted disease: 120300 OMIM COLOBOMA OF MACULA
id in db is: 296506
inserted disease: 601223 OMIM NEURONAL INTESTINAL DYSPLASIA, TYPE B
id in db is: 296507
inserted disease: 272150 OMIM 272150 SUGARMAN BRACHYDACTYLY;;BRACHYDACTYLY WITH MAJOR PROXIMAL PHALANGEAL SHORTENING
id in db is: 296508
inserted disease: 605588 OMIM CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B1; CMT2B1
id in db is: 296509
inserted disease: 65759 ORPHA Carpenter syndrome
id in db is: 296510
inserted disease: 616409 OMIM EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33; EIEE33
id in db is: 296511
inserted disease: 610093 OMIM #610093 MICROPHTHALMIA, ISOLATED 2; MCOP2;;ANOPHTHALMIA, CLINICAL, ISOLATED
id in db is: 296512
inserted disease: 183850 OMIM SPONDYLOEPIPHYSEAL DYSPLASIA WITH PUNCTATE CORNEAL DYSTROPHY
id in db is: 296513
inserted disease: 119570 OMIM CLEFT SOFT PALATE
id in db is: 296514
inserted disease: 616722 OMIM #616722 RETINAL DYSTROPHY AND IRIS COLOBOMA WITH OR WITHOUT CONGENITAL CATARACT;RDICC
id in db is: 296515
inserted disease: 214900 OMIM CHOLESTASIS-LYMPHEDEMA SYNDROME
id in db is: 296516
inserted disease: 616413 OMIM BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 6; IBGC6
id in db is: 296517
inserted disease: 896 ORPHA Waardenburg syndrome type 3
id in db is: 296518
inserted disease: 214950 OMIM BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4
id in db is: 296519
inserted disease: 613694 OMIM #613694 CARDIOMYOPATHY, DILATED, 1U; CMD1U
id in db is: 296520
inserted disease: 255700 OMIM #255700 MYOTONIA CONGENITA, AUTOSOMAL RECESSIVE;;BECKER DISEASE;;MYOTONIA, GENERALIZED
id in db is: 296521
inserted disease: 602114 OMIM NEPHROPATHY, PROGRESSIVE TUBULOINTERSTITIAL, WITH CHOLESTATIC LIVERDISEASE
id in db is: 296522
inserted disease: 85297 ORPHA X-linked spinocerebellar ataxia type 3
id in db is: 296523
inserted disease: 143000 OMIM HORNER SYNDROME, CONGENITAL
id in db is: 296524
inserted disease: 612714 OMIM #612714 EXOCRINE PANCREATIC INSUFFICIENCY, DYSERYTHROPOIETIC ANEMIA, AND CALVARIALHYPEROSTOSIS
id in db is: 296525
inserted disease: 615402 OMIM #615402 DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3; DUH3
id in db is: 296526
inserted disease: 1849 ORPHA Infundibulopelvic stenosis-multicystic kidney syndrome
id in db is: 296527
inserted disease: 131760 OMIM EPIDERMOLYSIS BULLOSA HERPETIFORMIS, DOWLING-MEARA TYPE
id in db is: 296528
inserted disease: 300590 OMIM #300590 CORNELIA DE LANGE SYNDROME 2; CDLS2;;CORNELIA DE LANGE SYNDROME, X-LINKED;;CDLS, X-LINKED
id in db is: 296529
inserted disease: 612726 OMIM HARDIKAR SYNDROME
id in db is: 296530
inserted disease: 137000 OMIM FUTCHER LINE
id in db is: 296531
inserted disease: 90308 ORPHA Klippel-Trénaunay syndrome
id in db is: 296532
inserted disease: 180849 OMIM #180849 RUBINSTEIN-TAYBI SYNDROME 1; RSTS1;;RUBINSTEIN SYNDROME;;BROAD THUMBS AND GREAT TOES, CHARACTERISTIC FACIES, AND MENTAL RETARDATION;;BROAD THUMB-HALLUX SYNDROME
id in db is: 296533
inserted disease: 30925 ORPHA Hereditary central diabetes insipidus
id in db is: 296534
inserted disease: 324713 ORPHA ABeta amyloidosis, Italian type
id in db is: 296535
inserted disease: 435651 ORPHA CIDEC-related familial partial lipodystrophy
id in db is: 296536
inserted disease: 50814 ORPHA Craniolenticulosutural dysplasia
id in db is: 296537
inserted disease: 829 ORPHA Adult-onset Still disease
id in db is: 296538
inserted disease: 600882 OMIM CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B
id in db is: 296539
inserted disease: 211369 OMIM BRACHYDACTYLY, TYPE A2, WITH MICROCEPHALY
id in db is: 296540
inserted disease: 155150 OMIM MEDIAN-ULNAR NERVE COMMUNICATIONS
id in db is: 296541
inserted disease: 2787 ORPHA Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome
id in db is: 296542
inserted disease: 3440 ORPHA Waardenburg syndrome
id in db is: 296543
inserted disease: 193200 OMIM VITILIGOVTLG
id in db is: 296544
inserted disease: 250650 OMIM METHANE PRODUCTION
id in db is: 296545
inserted disease: 609464 OMIM #609464 SARCOIDOSIS, EARLY-ONSET;;EOS
id in db is: 296546
inserted disease: 251800 OMIM MICROTIA WITH MEATAL ATRESIA AND CONDUCTIVE DEAFNESS
id in db is: 296547
inserted disease: 181515 OMIM SCHOLTE SYNDROME
id in db is: 296548
inserted disease: 103285 OMIM #103285 ADULT SYNDROME;;ACRO-DERMATO-UNGUAL-LACRIMAL-TOOTH SYNDROME
id in db is: 296549
inserted disease: 610031 OMIM #610031 POLYMICROGYRIA, SYMMETRIC OR ASYMMETRIC; PMGYSA
id in db is: 296550
inserted disease: 106220 OMIM ANIRIDIA AND ABSENT PATELLA
id in db is: 296551
inserted disease: 106100 OMIM ANGIOEDEMA, HEREDITARY
id in db is: 296552
inserted disease: 178487 ORPHA Adult intestinal botulism
id in db is: 296553
inserted disease: 277320 OMIM VISCERAL MYOPATHY, FAMILIAL, WITH EXTERNAL OPHTHALMOPLEGIA
id in db is: 296554
inserted disease: 1184 ORPHA Ataxia-photosensitivity-short stature syndrome
id in db is: 296555
inserted disease: 199343 ORPHA EAST syndrome
id in db is: 296556
inserted disease: 305435 OMIM FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 3
id in db is: 296557
inserted disease: 306900 OMIM HEMOPHILIA B
id in db is: 296558
inserted disease: 600081 OMIM #600081 VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1B; VDDR1B;;VITAMIN D-DEPENDENT RICKETS, TYPE 1B;;25-@HYDROXYVITAMIN D3 DEFICIENCY, SELECTIVE;;PSEUDOVITAMIN D3 DEFICIENCY RICKETS DUE TO 25-HYDROXYLASE DEFICIENCY
id in db is: 296559
inserted disease: 199276 ORPHA Familial multiple lipomatosis
id in db is: 296560
inserted disease: 600886 OMIM #600886 HYPERFERRITINEMIA WITH OR WITHOUT CATARACT;;HYPERFERRITINEMIA-CATARACT SYNDROME;;HYPERFERRITINEMIA, HEREDITARY, WITH CONGENITAL CATARACTS; HHCS
id in db is: 296561
inserted disease: 611383 OMIM #611383 USHER SYNDROME, TYPE IID; USH2D
id in db is: 296562
inserted disease: 616108 OMIM RETINAL DYSTROPHY, JUVENILE CATARACTS, AND SHORT STATURE SYNDROME; RDJCSS
id in db is: 296563
inserted disease: 616579 OMIM MENTAL RETARDATION, AUTOSOMAL DOMINANT 40; MRD40
id in db is: 296564
inserted disease: 1388 ORPHA Catel-Manzke syndrome
id in db is: 296565
inserted disease: 275761 ORPHA Lysosomal acid lipase deficiency
id in db is: 296566
inserted disease: 300147 OMIM %300147 PROSTATE CANCER, HEREDITARY, X-LINKED 1; HPCX1;;PROSTATE CANCER SUSCEPTIBILITY, X-LINKED; PCSX
id in db is: 296567
inserted disease: 611363 OMIM #611363 ATRIAL SEPTAL DEFECT 4; ASD4
id in db is: 296568
inserted disease: 218800 OMIM #218800 CRIGLER-NAJJAR SYNDROME, TYPE I;;HYPERBILIRUBINEMIA, CRIGLER-NAJJAR TYPE I; HBLRCN1;;CRIGLER-NAJJAR SYNDROME
id in db is: 296569
inserted disease: 614256 OMIM #614256 MENTAL RETARDATION, AUTOSOMAL DOMINANT 10; MRD10
id in db is: 296570
inserted disease: 605735 OMIM %605735 BLEEDING DISORDER, PLATELET-TYPE, 12; BDPLT12;;PROSTAGLANDIN-ENDOPEROXIDE SYNTHASE 1 DEFICIENCY, PLATELET;;PGHS1 DEFICIENCY;;PLATELET CYCLOOXYGENASE 1 DEFICIENCY;;PLATELET COX1 DEFICIENCY
id in db is: 296571
inserted disease: 161700 OMIM NECROTIZING ENCEPHALOMYELOPATHY, SUBACUTE, OF LEIGH, ADULT
id in db is: 296572
inserted disease: 300271 OMIM MENTAL RETARDATION, X-LINKED 72
id in db is: 296573
inserted disease: 611717 OMIM %611717 SPONDYLOEPIPHYSEAL DYSPLASIA-BRACHYDACTYLY AND DISTINCTIVE SPEECH;;SED-BDS;;FANTASY ISLAND SYNDROME;;TATOO DYSPLASIA
id in db is: 296574
inserted disease: 613235 OMIM FACTOR XIII, B SUBUNIT, DEFICIENCY OF
id in db is: 296575
inserted disease: 3344 ORPHA Weismann-Netter syndrome
id in db is: 296576
inserted disease: 614380 OMIM #614380 COMPLEMENT COMPONENT 4A DEFICIENCY; C4AD;;C4A DEFICIENCY
id in db is: 296577
inserted disease: 312090 OMIM PROTEIN P3
id in db is: 296578
inserted disease: 272620 OMIM TARDIVE DYSKINESIA
id in db is: 296579
inserted disease: 314400 OMIM CARDIAC VALVULAR DYSPLASIA, X-LINKED
id in db is: 296580
inserted disease: 235750 OMIM HIRSCHSPRUNG DISEASE WITH ULNAR POLYDACTYLY, POLYSYNDACTYLY OF BIGTOES, AND VENTRICULAR SEPTAL DEFECT
id in db is: 296581
inserted disease: 95429 ORPHA Angioma serpiginosum
id in db is: 296582
inserted disease: 610382 OMIM %610382 PROSOPAGNOSIA, HEREDITARY;;FACE BLINDNESS;;PROSOPAGNOSIA, DEVELOPMENTAL;;PROSOPAGNOSIA, CONGENITAL
id in db is: 296583
inserted disease: 615107 OMIM #615107 COWDEN SYNDROME 4; CWS4
id in db is: 296584
inserted disease: 235730 OMIM #235730 MOWAT-WILSON SYNDROME; MOWS;;MICROCEPHALY, MENTAL RETARDATION, AND DISTINCT FACIAL FEATURES, WITHOR WITHOUT HIRSCHSPRUNG DISEASE;;HIRSCHSPRUNG DISEASE-MENTAL RETARDATION SYNDROME
id in db is: 296585
inserted disease: 535 ORPHA Rare cutaneous lupus erythematosus
id in db is: 296586
inserted disease: 93473 ORPHA Hurler syndrome
id in db is: 296587
inserted disease: 364 ORPHA Glycogen storage disease due to glucose-6-phosphatase deficiency
id in db is: 296588
inserted disease: 2331 ORPHA Kawasaki disease
id in db is: 296589
inserted disease: 612718 OMIM #612718 CEREBRAL CREATINE DEFICIENCY SYNDROME 3; CCDS3;;ARGININE:GLYCINE AMIDINOTRANSFERASE DEFICIENCY AGAT DEFICIENCY;;GATM DEFICIENCY;;CREATINE DEFICIENCY SYNDROME DUE TO AGAT DEFICIENCY
id in db is: 296590
inserted disease: 958 ORPHA Acro-renal-mandibular syndrome
id in db is: 296591
inserted disease: 251274 ORPHA Familial hyperaldosteronism type III
id in db is: 296592
inserted disease: 203650 OMIM %203650 ALOPECIA-MENTAL RETARDATION SYNDROME 1; APMR1;;AMR SYNDROME
id in db is: 296593
inserted disease: 105570 OMIM ANDROSTENONE, ABILITY TO SMELL
id in db is: 296594
inserted disease: 228396 ORPHA Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome
id in db is: 296595
inserted disease: 615715 OMIM #615715 BONE MARROW FAILURE SYNDROME 2; BMFS2
id in db is: 296596
inserted disease: 106230 OMIM ANIRIDIA, MICROCORNEA, AND SPONTANEOUSLY REABSORBED CATARACT
id in db is: 296597
inserted disease: 152420 OMIM LITHIUM TRANSPORT
id in db is: 296598
inserted disease: 209500 OMIM ATRICHIA WITH PAPULAR LESIONS
id in db is: 296599
inserted disease: 100024 ORPHA Mu-heavy chain disease
id in db is: 296600
inserted disease: 314570 OMIM WIDOW'S PEAK SYNDROME
id in db is: 296601
inserted disease: 601560 OMIM MULTIPLE EPIPHYSEAL DYSPLASIA WITH ROBIN PHENOTYPE
id in db is: 296602
inserted disease: 615277 OMIM CATARACT 19; CTRCT19
id in db is: 296603
inserted disease: 261515 OMIM #261515 D-BIFUNCTIONAL PROTEIN DEFICIENCY;;17-@BETA-HYDROXYSTEROID DEHYDROGENASE IV DEFICIENCY;;DBP DEFICIENCY;;PEROXISOMAL BIFUNCTIONAL ENZYME DEFICIENCY;;PBFE DEFICIENCY
id in db is: 296604
inserted disease: 314550 OMIM VESICOURETERAL REFLUX, X-LINKED
id in db is: 296605
inserted disease: 147630 OMIM ISLET CELL ADENOMATOSIS
id in db is: 296606
inserted disease: 236410 OMIM 236410 HUMERORADIAL SYNOSTOSIS WITH CRANIOFACIAL ANOMALIES
id in db is: 296607
inserted disease: 2440 ORPHA Split hand-split foot malformation
id in db is: 296608
inserted disease: 123050 OMIM 123050 CRANIORHINY
id in db is: 296609
inserted disease: 489500 OMIM XG REGULATOR
id in db is: 296610
inserted disease: 1412 ORPHA Tarsal-carpal coalition syndrome
id in db is: 296611
inserted disease: 614230 OMIM CHROMOSOME 8q21.11 DELETION SYNDROME
id in db is: 296612
inserted disease: 613863 OMIM #613863 GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 7; GEFSP7;;GEFS+, TYPE 7; GEFS+7FEBRILE SEIZURES, FAMILIAL, 3B, INCLUDED; FEB3B, INCLUDED
id in db is: 296613
inserted disease: 203780 OMIM ALPORT SYNDROME, AUTOSOMAL RECESSIVE
id in db is: 296614
inserted disease: 614714 OMIM %614714 POROKERATOSIS 7, DISSEMINATED SUPERFICIAL ACTINIC TYPE; POROK7
id in db is: 296615
inserted disease: 613680 OMIM #613680 BEAULIEU-BOYCOTT-INNES SYNDROME; BBIS;;MICROCEPHALY, MENTAL RETARDATION, AND DISTINCTIVE FACIES, WITH CARDIACAND GENITOURINARY MALFORMATIONS
id in db is: 296616
inserted disease: 610840 OMIM MITRAL VALVE PROLAPSE, MYXOMATOUS 3
id in db is: 296617
inserted disease: 217000 OMIM COMPLEMENT COMPONENT 2 DEFICIENCY
id in db is: 296618
inserted disease: 602541 OMIM #602541 MUSCULAR DYSTROPHY, CONGENITAL, MEGACONIAL TYPE; MDCMC;;MUSCULAR DYSTROPHY, CONGENITAL, WITH MITOCHONDRIAL STRUCTURAL ABNORMALITIES
id in db is: 296619
inserted disease: 615578 OMIM COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 18; COXPD18
id in db is: 296620
inserted disease: 607594 OMIM #607594 IMMUNODEFICIENCY, COMMON VARIABLE, 1; CVID1;;ANTIBODY DEFICIENCY DUE TO ICOS DEFECTIMMUNODEFICIENCY, COMMON VARIABLE, INCLUDED; CVID, INCLUDED
id in db is: 296621
inserted disease: 616258 OMIM MECKEL SYNDROME 12; MKS12
id in db is: 296622
inserted disease: 73246 ORPHA Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome
id in db is: 296623
inserted disease: 52 DECIPHER 9q subtelomeric deletion syndrome
id in db is: 296624
inserted disease: 604250 OMIM #604250 HEMOCHROMATOSIS, TYPE 3; HFE3;;HEMOCHROMATOSIS DUE TO DEFECT IN TRANSFERRIN RECEPTOR 2
id in db is: 296625
inserted disease: 607731 OMIM CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2H
id in db is: 296626
inserted disease: 184500 OMIM STEATOCYSTOMA MULTIPLEX
id in db is: 296627
inserted disease: 249270 OMIM #249270 THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME; TRMA;;THIAMINE METABOLISM DYSFUNCTION SYNDROME 1 (MEGALOBLASTIC ANEMIA,DIABETES MELLITUS, AND DEAFNESS TYPE); THMD1;;MEGALOBLASTIC ANEMIA, THIAMINE-RESPONSIVE, WITH DIABETES MELLITUSAND SENSORINEURAL DEAFNESS;;ROGERS SYNDROME;;THIAMINE-RESPONSIVE ANEMIA SYNDROME;;THIAMINE-RESPONSIVE MYELODYSPLASIA
id in db is: 296628
inserted disease: 85321 ORPHA Deafness-intellectual disability syndrome, Martin-Probst type
id in db is: 296629
inserted disease: 250500 OMIM METAPHYSEAL MODELING ABNORMALITY, SKIN LESIONS, AND SPASTIC PARAPLEGIA
id in db is: 296630
inserted disease: 233270 OMIM 233270 GOMBO SYNDROME;;GROWTH RETARDATION, OCULAR ABNORMALITIES, MICROCEPHALY, BRACHYDACTYLY,AND OLIGOPHRENIA
id in db is: 296631
inserted disease: 608758 OMIM #608758 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10; CMH10;;CARDIOMYOPATHY, HYPERTROPHIC, MID-LEFT VENTRICULAR CHAMBER TYPE, 2
id in db is: 296632
inserted disease: 79357 ORPHA Hereditary palmoplantar keratoderma
id in db is: 296633
inserted disease: 610212 OMIM DEAFNESS, AUTOSOMAL RECESSIVE 66; DFNB66
id in db is: 296634
inserted disease: 257850 OMIM #257850 OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE;;ODDD, AUTOSOMAL RECESSIVE;;OCULODENTOOSSEOUS DYSPLASIA, AUTOSOMAL RECESSIVE;;ODOD, AUTOSOMAL RECESSIVE
id in db is: 296635
inserted disease: 162400 OMIM NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA; HSAN1A
id in db is: 296636
inserted disease: 217150 OMIM CONTRACTURES, CONGENITAL, TORTICOLLIS, AND MALIGNANT HYPERTHERMIA
id in db is: 296637
inserted disease: 612868 OMIM %612868 CORNEAL DYSTROPHY, POSTERIOR AMORPHOUS; PACD;;POSTERIOR AMORPHOUS CORNEAL DYSTROPHY
id in db is: 296638
inserted disease: 275350 OMIM #275350 TRANSCOBALAMIN II DEFICIENCY;;TC II DEFICIENCY;;TCN2 DEFICIENCY
id in db is: 296639
inserted disease: 248400 OMIM MANDIBULOFACIAL DYSOSTOSIS WITH MENTAL DEFICIENCY
id in db is: 296640
inserted disease: 304400 OMIM DEAFNESS, X-LINKED 2
id in db is: 296641
inserted disease: 309610 OMIM %309610 PRIETO X-LINKED MENTAL RETARDATION SYNDROME; PRS;;MENTAL RETARDATION, X-LINKED, SYNDROMIC 2; MRXS2;;MENTAL RETARDATION, X-LINKED, WITH DYSMORPHISM AND CEREBRAL ATROPHY
id in db is: 296642
inserted disease: 261250 ORPHA 16q24.3 microdeletion syndrome
id in db is: 296643
inserted disease: 225750 OMIM #225750 AICARDI-GOUTIERES SYNDROME 1; AGS1;;AGS;;ENCEPHALOPATHY, FAMILIAL INFANTILE, WITH INTRACRANIAL CALCIFICATIONAND CHRONIC CEREBROSPINAL FLUID LYMPHOCYTOSIS;;CREE ENCEPHALITIS;;PSEUDOTOXOPLASMOSIS SYNDROMEAICARDI-GOUTIERES SYNDROME 1, AUTOSOMAL DOMINANT, INCLUDED
id in db is: 296644
inserted disease: 600736 OMIM 600736 VELOFACIOSKELETAL SYNDROME
id in db is: 296645
inserted disease: 616298 OMIM SINGLETON-MERTEN SYNDROME 2; SGMRT2
id in db is: 296646
inserted disease: 258400 OMIM OPHTHALMOPLEGIA TOTALIS WITH PTOSIS AND MIOSIS
id in db is: 296647
inserted disease: 227150 OMIM ETHANOLAMINOSIS
id in db is: 296648
inserted disease: 2863 ORPHA Short stature-wormian bones-dextrocardia syndrome
id in db is: 296649
inserted disease: 614898 OMIM SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE; SPG53
id in db is: 296650
inserted disease: 300448 OMIM #300448 ALPHA-THALASSEMIA MYELODYSPLASIA SYNDROME; ATMDS;;HEMOGLOBIN H DISEASE, ACQUIRED
id in db is: 296651
inserted disease: 616716 OMIM #616716 RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5; RCDP5
id in db is: 296652
inserted disease: 611867 OMIM CHROMOSOME 22q11.2 DELETION SYNDROME, DISTAL
id in db is: 296653
inserted disease: 614878 OMIM #614878 AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION, PLCG2-ASSOCIATED;APLAID
id in db is: 296654
inserted disease: 609446 OMIM GENERALIZED EPILEPSY AND PAROXYSMAL DYSKINESIA
id in db is: 296655
inserted disease: 118220 OMIM CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A; CMT1A
id in db is: 296656
inserted disease: 190345 OMIM TRICHOEPITHELIOMAS, MULTIPLE DESMOPLASTIC
id in db is: 296657
inserted disease: 612555 OMIM BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2; BROVCA2
id in db is: 296658
inserted disease: 614073 OMIM #614073 HERMANSKY-PUDLAK SYNDROME 4; HPS4
id in db is: 296659
inserted disease: 105400 OMIM AMYOTROPHIC LATERAL SCLEROSIS 1
id in db is: 296660
inserted disease: 1241 ORPHA Bencze syndrome
id in db is: 296661
inserted disease: 106250 OMIM ANKYLOBLEPHARON FILIFORME ADNATUM AND CLEFT PALATE
id in db is: 296662
inserted disease: 142623 OMIM HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1; HSCR1
id in db is: 296663
inserted disease: 1478 ORPHA Interatrial communication
id in db is: 296664
inserted disease: 1664 ORPHA Embryonary disorganization syndrome
id in db is: 296665
inserted disease: 77258 ORPHA Trichorhinophalangeal syndrome type 1 and 3
id in db is: 296666
inserted disease: 226300 OMIM ENTEROPATHY, PROTEIN-LOSING
id in db is: 296667
inserted disease: 600252 OMIM 600252 LOWRY-MACLEAN SYNDROME
id in db is: 296668
inserted disease: 271665 OMIM #271665 SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE;;SMED-SL;;SMED, SHORT LIMB-HAND TYPE;;SMED, TYPE II;;SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-ABNORMAL CALCIFICATIONTYPE;;SMED, SHORT LIMB-ABNORMAL CALCIFICATION TYPE;;SMED-SL/AC
id in db is: 296669
inserted disease: 2792 ORPHA Otofaciocervical syndrome
id in db is: 296670
inserted disease: 609432 OMIM SYNDACTYLY, MESOAXIAL SYNOSTOTIC, WITH PHALANGEAL REDUCTION
id in db is: 296671
inserted disease: 137500 OMIM GIANT NEUTROPHIL LEUKOCYTES
id in db is: 296672
inserted disease: 1497 ORPHA X-linked complicated corpus callosum dysgenesis
id in db is: 296673
inserted disease: 265800 OMIM PYCNODYSOSTOSIS
id in db is: 296674
inserted disease: 410000 OMIM AMELOGENIN, Y-CHROMOSOMAL
id in db is: 296675
inserted disease: 190351 OMIM #190351 TRICHORHINOPHALANGEAL SYNDROME, TYPE III; TRPS3;;SUGIO-KAJII SYNDROME
id in db is: 296676
inserted disease: 2773 ORPHA Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome
id in db is: 296677
inserted disease: 616553 OMIM DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6; DKCA6
id in db is: 296678
inserted disease: 242550 OMIM ICHTHYOSIS, SPLIT HAIRS, AND AMINO ACIDURIA
id in db is: 296679
inserted disease: 613877 OMIM #613877 LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4; FPLD4;;LIPODYSTROPHY, FAMILIAL PARTIAL, ASSOCIATED WITH PLIN1 MUTATIONS
id in db is: 296680
inserted disease: 201170 OMIM %201170 ACROFACIAL DYSOSTOSIS SYNDROME OF RODRIGUEZ;;RODRIGUEZ LETHAL ACROFACIAL DYSOSTOSIS SYNDROME
id in db is: 296681
inserted disease: 213002 OMIM CEREBELLAR HYPOPLASIA WITH ENDOSTEAL SCLEROSIS
id in db is: 296682
inserted disease: 85325 ORPHA X-linked intellectual disability, Stevenson type
id in db is: 296683
inserted disease: 616081 OMIM PONTOCEREBELLAR HYPOPLASIA, TYPE 1C; PCH1C
id in db is: 296684
inserted disease: 112 ORPHA Bartter syndrome
id in db is: 296685
inserted disease: 1170 ORPHA Autosomal recessive cerebelloparenchymal disorder type 3
id in db is: 296686
inserted disease: 616449 OMIM BASEL-VANAGAITE-SMIRIN-YOSEF SYNDROME; BVSYS
id in db is: 296687
inserted disease: 3406 ORPHA Ulerythema ophryogenesis
id in db is: 296688
inserted disease: 616095 OMIM MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY; MCT1D
id in db is: 296689
inserted disease: 615885 OMIM HYPOTRICHOSIS 12; HYPT12
id in db is: 296690
inserted disease: 65288 ORPHA Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome
id in db is: 296691
inserted disease: 35737 ORPHA Morning glory syndrome
id in db is: 296692
inserted disease: 247604 ORPHA Juvenile primary lateral sclerosis
id in db is: 296693
inserted disease: 313850 OMIM THORACOABDOMINAL SYNDROME
id in db is: 296694
inserted disease: 215600 OMIM CIRRHOSIS, FAMILIALCIRRHOSIS, FAMILIAL, WITH PULMONARY HYPERTENSION, INCLUDED
id in db is: 296695
inserted disease: 612541 OMIM #612541 NEUTROPENIA, SEVERE CONGENITAL, 4, AUTOSOMAL RECESSIVE; SCN4DURSUN SYNDROME, INCLUDED;;PULMONARY ARTERIAL HYPERTENSION, LEUKOPENIA, AND ATRIAL SEPTAL DEFECT,INCLUDED
id in db is: 296696
inserted disease: 614557 OMIM #614557 EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY,AND HEARING LOSS; EDSKMH
id in db is: 296697
inserted disease: 615552 OMIM #615552 EPISODIC PAIN SYNDROME, FAMILIAL, 3; FEPS3
id in db is: 296698
inserted disease: 349 ORPHA Fucosidosis
id in db is: 296699
inserted disease: 131 ORPHA Budd-Chiari syndrome
id in db is: 296700
inserted disease: 1873 ORPHA Jalili syndrome
id in db is: 296701
inserted disease: 174 ORPHA Metaphyseal chondrodysplasia, Schmid type
id in db is: 296702
inserted disease: 127500 OMIM DYSCHROMATOSIS UNIVERSALIS HEREDITARIA
id in db is: 296703
inserted disease: 2777 ORPHA Osteomesopyknosis
id in db is: 296704
inserted disease: 616724 OMIM #616724 TOOTH AGENESIS, SELECTIVE, 7; STHAG7
id in db is: 296705
inserted disease: 611225 OMIM #611225 SPASTIC PARAPLEGIA 18, AUTOSOMAL RECESSIVE; SPG18;;INTELLECTUAL DISABILITY, MOTOR DYSFUNCTION, AND JOINT CONTRACTURES;IDMDC
id in db is: 296706
inserted disease: 2963 ORPHA Progeroid syndrome, Petty type
id in db is: 296707
inserted disease: 1493 ORPHA Vici syndrome
id in db is: 296708
inserted disease: 113500 OMIM #113500 BRACHYOLMIA TYPE 3;;BRACHYOLMIA, AUTOSOMAL DOMINANT;;BRACHYRACHIA
id in db is: 296709
inserted disease: 602390 OMIM #602390 HEMOCHROMATOSIS, TYPE 2A; HFE2AHEMOCHROMATOSIS, TYPE 2, INCLUDED; HFE2, INCLUDED;;HEMOCHROMATOSIS, JUVENILE, INCLUDED; JH, INCLUDED
id in db is: 296710
inserted disease: 300619 OMIM CATARACT, ATAXIA, SHORT STATURE, AND MENTAL RETARDATION
id in db is: 296711
inserted disease: 145000 OMIM HYPERPARATHYROIDISM 1
id in db is: 296712
inserted disease: 142669 OMIM HIP DYSPLASIA, BEUKES TYPE
id in db is: 296713
inserted disease: 155600 OMIM MELANOMA, CUTANEOUS MALIGNANT
id in db is: 296714
inserted disease: 222765 OMIM RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2
id in db is: 296715
inserted disease: 611875 OMIM #611875 BRUGADA SYNDROME 3; BRGDA3
id in db is: 296716
inserted disease: 615544 OMIM #615544 PERIVENTRICULAR NODULAR HETEROTOPIA 6; PVNH6
id in db is: 296717
inserted disease: 163100 OMIM NEVUS FLAMMEUS OF NAPE OF NECK
id in db is: 296718
inserted disease: 610204 OMIM PONTOCEREBELLAR HYPOPLASIA, TYPE 5; PCH5
id in db is: 296719
inserted disease: 177100 OMIM PRURITUS, HEREDITARY LOCALIZED
id in db is: 296720
inserted disease: 31150 ORPHA Tangier disease
id in db is: 296721
inserted disease: 293 ORPHA Congenital herpes simplex virus infection
id in db is: 296722
inserted disease: 600852 OMIM RETINITIS PIGMENTOSA 17
id in db is: 296723
inserted disease: 112370 OMIM BRACHMANN-DE LANGE-LIKE FACIAL CHANGES WITH MICROCEPHALY, METATARSUSADDUCTUS, AND DEVELOPMENTAL DELAY
id in db is: 296724
inserted disease: 35656 ORPHA Coenzyme Q10 deficiency
id in db is: 296725
inserted disease: 36237 ORPHA Bullous impetigo
id in db is: 296726
inserted disease: 112350 OMIM %112350 WEISMANN-NETTER SYNDROME; WNS;;BOWING OF LEGS, ANTERIOR, WITH DWARFISM;;TOXOPACHYOSTEOSE DIAPHYSAIRE TIBIO-PERONIERE
id in db is: 296727
inserted disease: 300918 OMIM PALMOPLANTAR KERATODERMA, MUTILATING, WITH PERIORIFICIAL KERATOTIC PLAQUES, X-LINKED
id in db is: 296728
inserted disease: 1621 ORPHA 3q13 microdeletion syndrome
id in db is: 296729
inserted disease: 615873 OMIM HELSMOORTEL-VAN DER AA SYNDROME; HVDAS
id in db is: 296730
inserted disease: 140450 OMIM 140450 HEART-HAND SYNDROME, SPANISH TYPE
id in db is: 296731
inserted disease: 265200 OMIM PULMONARY BULLAE CAUSING PNEUMOTHORAX
id in db is: 296732
inserted disease: 613406 OMIM #613406 CHROMOSOME 15q24 DELETION SYNDROMECHROMOSOME 15q24 DUPLICATION SYNDROME, INCLUDED
id in db is: 296733
inserted disease: 607765 OMIM #607765 BILE ACID SYNTHESIS DEFECT, CONGENITAL, 1; CBAS1;;3-@BETA-HYDROXY-DELTA-5-C27-STEROID OXIDOREDUCTASE DEFICIENCY
id in db is: 296734
inserted disease: 64741 ORPHA Pulmonary blastoma
id in db is: 296735
inserted disease: 242530 OMIM ICHTHYOSIS, MENTAL RETARDATION, DWARFISM, AND RENAL IMPAIRMENT
id in db is: 296736
inserted disease: 604401 OMIM ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 6
id in db is: 296737
inserted disease: 604571 OMIM #604571 BARE LYMPHOCYTE SYNDROME, TYPE I;;BLS, TYPE I;;HLA CLASS I DEFICIENCY
id in db is: 296738
inserted disease: 209050 OMIM ATHROMBIA, ESSENTIAL
id in db is: 296739
inserted disease: 613530 OMIM %613530 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1H; LGMD1H
id in db is: 296740
inserted disease: 610374 OMIM #610374 DIABETES MELLITUS, TRANSIENT NEONATAL, 2;;TNDM2
id in db is: 296741
inserted disease: 345 ORPHA Dissecting cellulitis of the scalp
id in db is: 296742
inserted disease: 176090 OMIM 176090 PORPHYRIA CUTANEA TARDA, TYPE I;;PCT, TYPE I;;PCT, 'SPORADIC' TYPE
id in db is: 296743
inserted disease: 153100 OMIM LYMPHEDEMA, HEREDITARY, IA
id in db is: 296744
inserted disease: 194050 OMIM #194050 WILLIAMS-BEUREN SYNDROME; WBS;;CHROMOSOME 7q11.23 DELETION SYNDROME, 1.5- TO 1.8-MB;;WILLIAMS SYNDROME; WMS; WS
id in db is: 296745
inserted disease: 177700 OMIM #177700 GLAUCOMA 1, OPEN ANGLE, P; GLC1P
id in db is: 296746
inserted disease: 613707 OMIM #613707 LEOPARD SYNDROME 3; LPRD3
id in db is: 296747
inserted disease: 614702 OMIM #614702 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10; COXPD10;;CARDIOMYOPATHY, INFANTILE HYPERTROPHIC MITOCHONDRIAL, AND LACTIC ACIDOSIS
id in db is: 296748
inserted disease: 303110 OMIM #303110 CHOROIDEREMIA, DEAFNESS, AND MENTAL RETARDATION;;CHROMOSOME Xq21 DELETION SYNDROME
id in db is: 296749
inserted disease: 300434 OMIM #300434 STOCCO DOS SANTOS X-LINKED MENTAL RETARDATION SYNDROME;;SDSX;;MENTAL RETARDATION, X-LINKED, STOCCO DOS SANTOS TYPE
id in db is: 296750
inserted disease: 302 ORPHA Epidermodysplasia verruciformis
id in db is: 296751
inserted disease: 1307 ORPHA Distal limb deficiencies-micrognathia syndrome
id in db is: 296752
inserted disease: 614563 OMIM #614563 MENTAL RETARDATION, AUTOSOMAL DOMINANT 13; MRD13;;MENTAL RETARDATION, AUTOSOMAL DOMINANT, 13, WITH NEURONAL MIGRATIONDEFECTS
id in db is: 296753
inserted disease: 609308 OMIM #609308 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1; MDDGC1;;MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K; LGMD2K
id in db is: 296754
inserted disease: 611554 OMIM #611554 LEOPARD SYNDROME 2
id in db is: 296755
inserted disease: 274000 OMIM THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME; TAR
id in db is: 296756
inserted disease: 613418 OMIM #613418 BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 15; BMND15;;OSTEOPOROSIS, SUSCEPTIBILITY TO;;METAPHYSEAL FRACTURE, SUSCEPTIBILITY TO;;COMPRESSION FRACTURE, SUSCEPTIBILITY TO
id in db is: 296757
inserted disease: 1450 ORPHA Chromosome 8-derived supernumerary ring /marker
id in db is: 296758
inserted disease: 180050 OMIM %180050 RETINAL DETACHMENT
id in db is: 296759
inserted disease: 464 ORPHA Incontinentia pigmenti
id in db is: 296760
inserted disease: 50943 ORPHA Keratolytic winter erythema
id in db is: 296761
inserted disease: 79457 ORPHA Maculopapular cutaneous mastocytosis
id in db is: 296762
inserted disease: 609741 OMIM CATARACT 22, MULTIPLE TYPES; CTRCT22
id in db is: 296763
inserted disease: 612097 OMIM DEAFNESS, UNILATERAL, WITH DELAYED ENDOLYMPHATIC HYDROPS
id in db is: 296764
inserted disease: 613092 OMIM #613092 HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 2; HNFJ2;;EARLY-ONSET HYPERURICEMIA, ANEMIA, AND PROGRESSIVE KIDNEY FAILURE
id in db is: 296765
inserted disease: 300584 OMIM #300584 IMMUNODEFICIENCY WITHOUT ANHIDROTIC ECTODERMAL DYSPLASIA;;IMMUNODEFICIENCY, ISOLATED;;IMMUNODEFICIENCY, PURE
id in db is: 296766
inserted disease: 220295 ORPHA Xeroderma pigmentosum-Cockayne syndrome complex
id in db is: 296767
inserted disease: 300263 OMIM X-LINKED INTELLECTUAL DISABILITY, SIDERIUS TYPE
id in db is: 296768
inserted disease: 228930 OMIM FIBULAR APLASIA OR HYPOPLASIA, FEMORAL BOWING AND POLY-, SYN-, AND OLIGODACTYLY
id in db is: 296769
inserted disease: 613243 OMIM #613243 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 13; CMH13
id in db is: 296770
inserted disease: 435 ORPHA Ito hypomelanosis
id in db is: 296771
inserted disease: 96201 ORPHA X small rings
id in db is: 296772
inserted disease: 256690 OMIM 256690 NEUROFACIODIGITORENAL SYNDROME;;NFDR SYNDROME
id in db is: 296773
inserted disease: 300755 OMIM #300755 AGAMMAGLOBULINEMIA, X-LINKED; XLA;;BRUTON-TYPE AGAMMAGLOBULINEMIA;;AGAMMAGLOBULINEMIA, X-LINKED, TYPE 1; AGMX1;;IMMUNODEFICIENCY 1; IMD1HYPOGAMMAGLOBULINEMIA, X-LINKED, INCLUDED
id in db is: 296774
inserted disease: 113670 OMIM BREAST, UNILATERAL GIANT
id in db is: 296775
inserted disease: 1055 ORPHA Fetal left ventricular aneurysm
id in db is: 296776
inserted disease: 115080 OMIM CARDIAC CONDUCTION DEFECTSUDDEN CARDIAC DEATH, INCLUDED
id in db is: 296777
inserted disease: 611705 OMIM MYOPATHY, EARLY-ONSET, WITH FATAL CARDIOMYOPATHY
id in db is: 296778
inserted disease: 168900 OMIM PATELLA, CHONDROMALACIA OF
id in db is: 296779
inserted disease: 218330 OMIM CRANIOECTODERMAL DYSPLASIA 1; CED1
id in db is: 296780
inserted disease: 2216 ORPHA Maternal hyperthermia induced birth defects
id in db is: 296781
inserted disease: 2045 ORPHA FLOTCH syndrome
id in db is: 296782
inserted disease: 614850 OMIM #614850 HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 4;;ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 6; IIAE6
id in db is: 296783
inserted disease: 133180 OMIM ERYTHROLEUKEMIA, FAMILIAL
id in db is: 296784
inserted disease: 300422 OMIM #300422 FG SYNDROME 4; FGS4MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT NYSTAGMUS, INCLUDED
id in db is: 296785
inserted disease: 614830 OMIM #614830 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 8; MDDGA8;;WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, GTDC2-RELATED
id in db is: 296786
inserted disease: 167100 OMIM HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL DOMINANT
id in db is: 296787
inserted disease: 257220 OMIM NIEMANN-PICK DISEASE, TYPE C1; NPC1
id in db is: 296788
inserted disease: 216300 OMIM CLEFT PALATE, DEAFNESS, AND OLIGODONTIA
id in db is: 296789
inserted disease: 613576 OMIM %613576 ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 2; EDSS2
id in db is: 296790
inserted disease: 244400 OMIM #244400 CILIARY DYSKINESIA, PRIMARY, 1; CILD1;;PCD;;CILIARY DYSKINESIA, PRIMARY, 1, WITH OR WITHOUT SITUS INVERSUS;;IMMOTILE CILIA SYNDROME; ICS;;POLYNESIAN BRONCHIECTASISKARTAGENER SYNDROME, INCLUDED;;DEXTROCARDIA, BRONCHIECTASIS, AND SINUSITIS, INCLUDED;;SIEWERT SYNDROME, INCLUDED
id in db is: 296791
inserted disease: 185200 OMIM STRIAE DISTENSAE, FAMILIAL
id in db is: 296792
inserted disease: 274205 OMIM THUMB, HYPOPLASTIC, WITH CHOROID COLOBOMA, POORLY DEVELOPED ANTIHELIX,AND DEAFNESS
id in db is: 296793
inserted disease: 740 ORPHA Hutchinson-Gilford progeria syndrome
id in db is: 296794
inserted disease: 1174 ORPHA Cerebellar ataxia-ectodermal dysplasia syndrome
id in db is: 296795
inserted disease: 63446 ORPHA Acrocapitofemoral dysplasia
id in db is: 296796
inserted disease: 147610 OMIM IRIS PIGMENT LAYER, CLEAVAGE OF
id in db is: 296797
inserted disease: 2074 ORPHA Gemignani syndrome
id in db is: 296798
inserted disease: 123500 OMIM #123500 CROUZON SYNDROME;;CRANIOFACIAL DYSOSTOSIS, TYPE I; CFD1;;CROUZON CRANIOFACIAL DYSOSTOSIS
id in db is: 296799
inserted disease: 266500 OMIM REFSUM DISEASE
id in db is: 296800
inserted disease: 604091 OMIM HYPOALPHALIPOPROTEINEMIA, PRIMARY
id in db is: 296801
inserted disease: 616415 OMIM FAMILIAL ADENOMATOUS POLYPOSIS 3; FAP3
id in db is: 296802
inserted disease: 136800 OMIM CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 1
id in db is: 296803
inserted disease: 1839 ORPHA Hereditary mucoepithelial dysplasia
id in db is: 296804
inserted disease: 601705 OMIM T-CELL IMMUNODEFICIENCY, CONGENITAL ALOPECIA, AND NAIL DYSTROPHY
id in db is: 296805
inserted disease: 158900 OMIM #158900 FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1; FSHD1;;MUSCULAR DYSTROPHY, FACIOSCAPULOHUMERAL, TYPE 1;;FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY; FSHD; FMD;;MUSCULAR DYSTROPHY, FACIOSCAPULOHUMERAL, TYPE 1A; FSHD1A;;LANDOUZY-DEJERINE MUSCULAR DYSTROPHYFACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY, INFANTILE, INCLUDED;;FACIOSCAPULOHUMERAL DYSTROPHY WITH SENSORINEURAL HEARING LOSS ANDTORTUOSITY OF RETINAL ARTERIOLES, INCLUDED
id in db is: 296806
inserted disease: 615381 OMIM #615381 MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHYSYNDROME; MDPL
id in db is: 296807
inserted disease: 145600 OMIM #145600 MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1; MHS1;;MHS;;HYPERTHERMIA OF ANESTHESIA;;HYPERPYREXIA, MALIGNANT; MHKING SYNDROME, INCLUDED;;KING-DENBOROUGH SYNDROME, INCLUDED
id in db is: 296808
inserted disease: 604563 OMIM CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B2; CMT4B2
id in db is: 296809
inserted disease: 166113 ORPHA Bazex syndrome
id in db is: 296810
inserted disease: 615269 OMIM HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA; HH19
id in db is: 296811
inserted disease: 615598 OMIM #615598 PALMOPLANTAR KERATODERMA, NAGASHIMA TYPE; PPKN
id in db is: 296812
inserted disease: 608583 OMIM ATRIAL FIBRILLATION, FAMILIAL, 1; ATFB1
id in db is: 296813
inserted disease: 613371 OMIM SPINOCEREBELLAR ATAXIA 30; SCA30
id in db is: 296814
inserted disease: 305100 OMIM #305100 ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED; XHED;;ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC/HAIR/TOOTH TYPE, X-LINKED; ECTD1;;XLHED;;ECTODERMAL DYSPLASIA, ANHIDROTIC, X-LINKED; EDA;;EDA1;;ECTODERMAL DYSPLASIA, HYPOHIDROTIC, 1; HED1;;ECTODERMAL DYSPLASIA 1; ED1;;CHRIST-SIEMENS-TOURAINE SYNDROME;;CST SYNDROME
id in db is: 296815
inserted disease: 262020 OMIM PILODENTAL DYSPLASIA WITH REFRACTIVE ERRORS
id in db is: 296816
inserted disease: 179618 OMIM RECOVERIN
id in db is: 296817
inserted disease: 1226 ORPHA Bamforth-Lazarus syndrome
id in db is: 296818
inserted disease: 2611 ORPHA Linear verrucous nevus syndrome
id in db is: 296819
inserted disease: 613843 OMIM LEBER CONGENITAL AMAUROSIS 15; LCA15
id in db is: 296820
inserted disease: 183840 OMIM SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 2
id in db is: 296821
inserted disease: 93283 ORPHA Spondyloepiphyseal dysplasia, Kimberley type
id in db is: 296822
inserted disease: 426000 OMIM JUMONJI, AT-RICH INTERACTIVE DOMAIN 1D
id in db is: 296823
inserted disease: 606240 OMIM THYROID CANCER, NONMEDULLARY, 3; NMTC3
id in db is: 296824
inserted disease: 613255 OMIM #613255 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 15; CMH15
id in db is: 296825
inserted disease: 109560 OMIM B-CELL LEUKEMIA/LYMPHOMA 3
id in db is: 296826
inserted disease: 610246 OMIM #610246 SPINOCEREBELLAR ATAXIA 28; SCA28
id in db is: 296827
inserted disease: 25 ORPHA Glutaryl-CoA dehydrogenase deficiency
id in db is: 296828
inserted disease: 608423 OMIM #608423 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1F; LGMD1F
id in db is: 296829
inserted disease: 158003 ORPHA Xanthoma disseminatum
id in db is: 296830
inserted disease: 259710 OMIM #259710 OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2; OPTB2;;OSTEOPETROSIS, OSTEOCLAST-POOR;;OSTEOPETROSIS, MILD AUTOSOMAL RECESSIVE FORM
id in db is: 296831
inserted disease: 139500 OMIM HAIRY EARS
id in db is: 296832
inserted disease: 1345 ORPHA Cardiomyopathy-cataract-hip spine disease syndrome
id in db is: 296833
inserted disease: 613096 OMIM SPASTIC PARAPLEGIA 36, AUTOSOMAL DOMINANT; SPG36
id in db is: 296834
inserted disease: 615887 OMIM AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA5; AI2A5
id in db is: 296835
inserted disease: 44 ORPHA Neonatal adrenoleukodystrophy
id in db is: 296836
inserted disease: 227600 OMIM #227600 FACTOR X DEFICIENCY;;F10 DEFICIENCY;;STUART-PROWER FACTOR DEFICIENCY
id in db is: 296837
inserted disease: 615540 OMIM #615540 DEAFNESS, AUTOSOMAL RECESSIVE 76; DFNB76
id in db is: 296838
inserted disease: 613554 OMIM #613554 VON WILLEBRAND DISEASE, TYPE 2; VWD2;;VON WILLEBRAND DISEASE, TYPE II;;VWD, TYPE 2VON WILLEBRAND DISEASE, TYPE 2A, INCLUDED; VWD2A, INCLUDED;;VON WILLEBRAND DISEASE, TYPE 2B, INCLUDED; VWD2B, INCLUDED;;VON WILLEBRAND DISEASE, TYPE 2M, INCLUDED; VWD2M, INCLUDED;;VON WILLEBRAND DISEASE, TYPE 2N, INCLUDED; VWD2N, INCLUDED
id in db is: 296839
inserted disease: 613544 OMIM CHROMOSOME 6q11-q14 DELETION SYNDROME
id in db is: 296840
inserted disease: 263800 OMIM #263800 GITELMAN SYNDROME;;HYPOMAGNESEMIA-HYPOKALEMIA, PRIMARY RENOTUBULAR, WITH HYPOCALCIURIA;;POTASSIUM AND MAGNESIUM DEPLETION
id in db is: 296841
inserted disease: 175700 OMIM #175700 GREIG CEPHALOPOLYSYNDACTYLY SYNDROME; GCPS;;POLYSYNDACTYLY WITH PECULIAR SKULL SHAPE
id in db is: 296842
inserted disease: 610099 OMIM MYOPATHY, DISTAL 3
id in db is: 296843
inserted disease: 179250 OMIM RADIAL HYPOPLASIA, TRIPHALANGEAL THUMBS, HYPOSPADIAS, AND MAXILLARYDIASTEMA
id in db is: 296844
inserted disease: 259700 OMIM OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1; OPTB1
id in db is: 296845
inserted disease: 615092 OMIM #615092 LEFT VENTRICULAR NONCOMPACTION 7; LVNC7
id in db is: 296846
inserted disease: 607906 OMIM CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii; CDG1I
id in db is: 296847
inserted disease: 300881 OMIM %300881 BARATELA-SCOTT SYNDROME
id in db is: 296848
inserted disease: 300400 OMIM SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED
id in db is: 296849
inserted disease: 615897 OMIM IMMUNODEFICIENCY 24; IMD24
id in db is: 296850
inserted disease: 142625 OMIM HIRSUTISM--SKELETAL DYSPLASIA--MENTAL RETARDATION SYNDROME
id in db is: 296851
inserted disease: 85197 ORPHA Genochondromatosis type 1
id in db is: 296852
inserted disease: 1973 ORPHA Faciocardiorenal syndrome
id in db is: 296853
inserted disease: 607101 OMIM DEAFNESS, AUTOSOMAL RECESSIVE 30; DFNB30
id in db is: 296854
inserted disease: 614876 OMIM #614876 PEROXISOME BIOGENESIS DISORDER 8A (ZELLWEGER); PBD8APEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 9, INCLUDED;CG9, INCLUDED;;PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP D, INCLUDED;CGD, INCLUDED
id in db is: 296855
inserted disease: 607458 OMIM SPINOCEREBELLAR ATAXIA 18
id in db is: 296856
inserted disease: 616541 OMIM #616541 SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION; SSMED
id in db is: 296857
inserted disease: 150590 OMIM 150590 LEG ULCERS, FAMILIAL, OF JUVENILE ONSET
id in db is: 296858
inserted disease: 370921 ORPHA STT3A-CDG
id in db is: 296859
inserted disease: 613865 OMIM #613865 DEAFNESS, AUTOSOMAL RECESSIVE 61; DFNB61
id in db is: 296860
inserted disease: 106700 OMIM TOTAL ANOMALOUS PULMONARY VENOUS RETURN 1
id in db is: 296861
inserted disease: 164745 OMIM OMODYSPLASIA
id in db is: 296862
inserted disease: 267200 OMIM RENAL TUBULAR ACIDOSIS III
id in db is: 296863
inserted disease: 90023 ORPHA Primary immunodeficiency syndrome due to p14 deficiency
id in db is: 296864
inserted disease: 188550 OMIM THYROID CANCER, NONMEDULLARY, 1; NMTC1
id in db is: 296865
inserted disease: 189230 OMIM TOES, SPACE BETWEEN FIRST AND SECOND
id in db is: 296866
inserted disease: 601277 OMIM #601277 ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4A; ARCI4A;;ICHTHYOSIS CONGENITA IIB; ICR2B;;ICHTHYOSIS, LAMELLAR, 2, FORMERLY; LI2, FORMERLY
id in db is: 296867
inserted disease: 271320 OMIM SPINOCEREBELLAR DEGENERATION WITH MACULAR CORNEAL DYSTROPHY, CONGENITALCATARACTS, AND MYOPIA
id in db is: 296868
inserted disease: 300436 OMIM MENTAL RETARDATION, X-LINKED 46
id in db is: 296869
inserted disease: 605115 OMIM #605115 HYPERTENSION, EARLY-ONSET, AUTOSOMAL DOMINANT, WITH SEVERE EXACERBATIONIN PREGNANCY
id in db is: 296870
inserted disease: 614565 OMIM #614565 NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1E; CSNB1E;;CSNB, COMPLETE, AUTOSOMAL RECESSIVE
id in db is: 296871
inserted disease: 168811 ORPHA Malignant peritoneal mesothelioma
id in db is: 296872
inserted disease: 615861 OMIM FAMILIAL IDIOPATHIC STEROID-RESISTANT NEPHROTIC SYNDROME
id in db is: 296873
inserted disease: 116850 OMIM CATATRICHY
id in db is: 296874
inserted disease: 99798 ORPHA Oligodontia
id in db is: 296875
inserted disease: 101028 ORPHA Transaldolase deficiency
id in db is: 296876
inserted disease: 1906 ORPHA Fetal valproate syndrome
id in db is: 296877
inserted disease: 225290 OMIM ECTRODACTYLY-POLYDACTYLY
id in db is: 296878
inserted disease: 77 ORPHA Aniridia
id in db is: 296879
inserted disease: 271310 OMIM SPINOCEREBELLAR DEGENERATION AND CORNEAL DYSTROPHY
id in db is: 296880
inserted disease: 613060 OMIM #613060 EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 10; EIG10GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 5, SUSCEPTIBILITYTO, INCLUDED; GEFS5, INCLUDED;;GEFS+, TYPE 5, SUSCEPTIBILITY TO, INCLUDED;;GEFS+5, SUSCEPTIBILITY TO, INCLUDED;;GEFSP5, SUSCEPTIBILITY TO, INCLUDED;;EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 7, INCLUDED; EJM7,INCLUDED
id in db is: 296881
inserted disease: 226900 OMIM EPIPHYSEAL DYSPLASIA, MULTIPLE, 4
id in db is: 296882
inserted disease: 176400 OMIM PRECOCIOUS PUBERTY, CENTRAL
id in db is: 296883
inserted disease: 615530 OMIM #615530 PARKINSON DISEASE 20, EARLY-ONSET; PARK20
id in db is: 296884
inserted disease: 129510 OMIM 129510 ECTODERMAL DYSPLASIA, TRICHOODONTOONYCHIAL TYPE
id in db is: 296885
inserted disease: 179270 OMIM RADIAL RAY HYPOPLASIA WITH CHOANAL ATRESIA
id in db is: 296886
inserted disease: 2435 ORPHA Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome
id in db is: 296887
inserted disease: 610370 OMIM DIARRHEA 4, MALABSORPTIVE, CONGENITAL
id in db is: 296888
inserted disease: 79476 ORPHA Griscelli disease type 1
id in db is: 296889
inserted disease: 203000 OMIM FRONTONASAL DYSPLASIA WITH ALAR CLEFTS
id in db is: 296890
inserted disease: 215150 OMIM #215150 OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA; OSMED;;CHONDRODYSTROPHY WITH SENSORINEURAL DEAFNESS;;NANCE-INSLEY SYNDROME;;NANCE-SWEENEY CHONDRODYSPLASIA
id in db is: 296891
inserted disease: 262190 OMIM PINEAL HYPERPLASIA, INSULIN-RESISTANT DIABETES MELLITUS, AND SOMATIC ABNORMALITIES
id in db is: 296892
inserted disease: 1516 ORPHA Craniofacial dyssynostosis
id in db is: 296893
inserted disease: 142946 OMIM HOLOPROSENCEPHALY 4
id in db is: 296894
inserted disease: 93302 ORPHA Brachyolmia, Maroteaux type
id in db is: 296895
inserted disease: 2901 ORPHA Neuralgic amyotrophy
id in db is: 296896
inserted disease: 612095 OMIM RETINITIS PIGMENTOSA 41; RP41
id in db is: 296897
inserted disease: 79409 ORPHA Recessive dystrophic epidermolysis bullosa inversa
id in db is: 296898
inserted disease: 139650 OMIM HAIRY PALMS AND SOLES
id in db is: 296899
inserted disease: 221740 OMIM DEAFNESS-OLIGODONTIA SYNDROME
id in db is: 296900
inserted disease: 3002 ORPHA Immune thrombocytopenic purpura
id in db is: 296901
inserted disease: 274190 OMIM THUMB AGENESIS, SHORT STATURE, AND IMMUNODEFICIENCY
id in db is: 296902
inserted disease: 90037 ORPHA Drug-induced autoimmune hemolytic anemia
id in db is: 296903
inserted disease: 300115 OMIM %300115 MENTAL RETARDATION, X-LINKED 50; MRX50
id in db is: 296904
inserted disease: 2059 ORPHA Fryns syndrome
id in db is: 296905
inserted disease: 892 ORPHA Von Hippel-Lindau disease
id in db is: 296906
inserted disease: 616577 OMIM EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME; EHLMRS
id in db is: 296907
inserted disease: 36204 ORPHA Intestinal lymphangiectasia
id in db is: 296908
inserted disease: 144300 OMIM HYPERLIPOPROTEINEMIA, TYPE II, AND DEAFNESS
id in db is: 296909
inserted disease: 613391 OMIM DEAFNESS, AUTOSOMAL RECESSIVE 84; DFNB84
id in db is: 296910
inserted disease: 39 DECIPHER 8p23.1 deletion syndrome
id in db is: 296911
inserted disease: 2673 ORPHA Neurofaciodigitorenal syndrome
id in db is: 296912
inserted disease: 79238 ORPHA Galactose epimerase deficiency
id in db is: 296913
inserted disease: 146300 OMIM HYPOPHOSPHATASIA, ADULT
id in db is: 296914
inserted disease: 300125 OMIM MIGRAINE, FAMILIAL TYPICAL, SUSCEPTIBILITY TO, 2
id in db is: 296915
inserted disease: 142900 OMIM #142900 HOLT-ORAM SYNDROME; HOS;;HOS1;;HEART-HAND SYNDROME;;ATRIODIGITAL DYSPLASIA
id in db is: 296916
inserted disease: 613705 OMIM #613705 OROFACIAL CLEFT 10; OFC10;;CLEFT LIP WITH OR WITHOUT CLEFT PALATE, NONSYNDROMIC, 10
id in db is: 296917
inserted disease: 217031 ORPHA Obesity due to MC3R deficiency
id in db is: 296918
inserted disease: 606768 OMIM MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL ONSET
id in db is: 296919
inserted disease: 616230 OMIM EPILEPSY, PROGRESSIVE MYOCLONIC, 8; EPM8
id in db is: 296920
inserted disease: 156156 ORPHA Lipoatrophy with diabetes, leukomelanodermic papules, liver steatosis, and hypertrophic cardiomyopathy
id in db is: 296921
inserted disease: 1597 ORPHA Distal monosomy 17q
id in db is: 296922
inserted disease: 616220 OMIM FOCAL SEGMENTAL GLOMERULOSCLEROSIS 9; FSGS9
id in db is: 296923
inserted disease: 610878 OMIM #610878 VESICOURETERAL REFLUX 2; VUR2
id in db is: 296924
inserted disease: 165720 OMIM OSTEOARTHRITIS
id in db is: 296925
inserted disease: 605285 OMIM #605285 NEUROPATHY, HEREDITARY MOTOR AND SENSORY, RUSSE TYPE; HMSNR;;CHARCOT-MARIE-TOOTH DISEASE, TYPE 4G; CMT4G;;CHARCOT-MARIE-TOOTH DISEASE, AUTOSOMAL RECESSIVE, TYPE 4G;;HEREDITARY MOTOR AND SENSORY NEUROPATHY, RUSSE TYPE;;CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 4G
id in db is: 296926
inserted disease: 615233 OMIM #615233 RETINITIS PIGMENTOSA 66; RP66
id in db is: 296927
inserted disease: 227646 OMIM #227646 FANCONI ANEMIA, COMPLEMENTATION GROUP D2; FANCD2;;FAD2;;FANCONI ANEMIA, COMPLEMENTATION GROUP D; FANCD; FACD;;FANCONI PANCYTOPENIA, TYPE 4; FA4
id in db is: 296928
inserted disease: 616106 OMIM PSORIASIS 15, PUSTULAR, SUSCEPTIBILITY TO; PSORS15
id in db is: 296929
inserted disease: 610992 OMIM PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY
id in db is: 296930
inserted disease: 614706 OMIM #614706 CEROID LIPOFUSCINOSIS, NEURONAL, 11; CLN11
id in db is: 296931
inserted disease: 231 ORPHA Dracunculiasis
id in db is: 296932
inserted disease: 607271 OMIM CASPASE 8 DEFICIENCY
id in db is: 296933
inserted disease: 58 ORPHA Alexander disease
id in db is: 296934
inserted disease: 613875 OMIM #613875 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 19; CMH19
id in db is: 296935
inserted disease: 615109 OMIM COWDEN SYNDROME 6; CWS6
id in db is: 296936
inserted disease: 611879 OMIM #611879 CARDIOMYOPATHY, DILATED, 1Z; CMD1Z
id in db is: 296937
inserted disease: 324290 ORPHA Early-onset Lafora body disease
id in db is: 296938
inserted disease: 200300 OMIM 200300 ACETOPHENETIDIN SENSITIVITY
id in db is: 296939
inserted disease: 211770 OMIM CAHMR SYNDROME
id in db is: 296940
inserted disease: 613070 OMIM #613070 LIVER FAILURE, INFANTILE, TRANSIENT; LFIT
id in db is: 296941
inserted disease: 606744 OMIM #606744 SECKEL SYNDROME 2; SCKL2;;SECKEL-TYPE DWARFISM 2;;MICROCEPHALIC PRIMORDIAL DWARFISM 2
id in db is: 296942
inserted disease: 272000 OMIM SUCROSURIA, HIATUS HERNIA AND MENTAL RETARDATION
id in db is: 296943
inserted disease: 615119 OMIM #615119 CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASEDEFICIENCY 2; CEMCOX2
id in db is: 296944
inserted disease: 606 ORPHA Proximal myotonic myopathy
id in db is: 296945
inserted disease: 184705 OMIM 184705 STEINFELD SYNDROME
id in db is: 296946
inserted disease: 231242 ORPHA Hemoglobin C-beta-thalassemia syndrome
id in db is: 296947
inserted disease: 159600 OMIM MYOCLONIC EPILEPSY, HARTUNG TYPE
id in db is: 296948
inserted disease: 75497 ORPHA X-linked Ehlers-Danlos syndrome
id in db is: 296949
inserted disease: 119550 OMIM CLEFT PALATE-LATERAL SYNECHIA SYNDROME
id in db is: 296950
inserted disease: 654 ORPHA Nephroblastoma
id in db is: 296951
inserted disease: 119540 OMIM #119540 CLEFT PALATE, ISOLATED; CPI;;CLEFT PALATE; CPCLEFT PALATE, ISOLATED, AND MENTAL RETARDATION, INCLUDED
id in db is: 296952
inserted disease: 175860 OMIM POROKERATOSIS PUNCTATA PALMARIS ET PLANTARIS
id in db is: 296953
inserted disease: 1359 ORPHA Carney complex
id in db is: 296954
inserted disease: 151100 OMIM #151100 LEOPARD SYNDROME 1;;LENTIGINOSIS, CARDIOMYOPATHIC;;MULTIPLE LENTIGINES SYNDROME
id in db is: 296955
inserted disease: 11 ORPHA Pentasomy X
id in db is: 296956
inserted disease: 277350 OMIM VITAMIN A METABOLIC DEFECT
id in db is: 296957
inserted disease: 1122 ORPHA Ulnar hypoplasia-split foot syndrome
id in db is: 296958
inserted disease: 614886 OMIM #614886 PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER); PBD12APEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 14, INCLUDED;;CG14, INCLUDED;;PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP J, INCLUDED;;CGJ, INCLUDED
id in db is: 296959
inserted disease: 228300 OMIM #228300 HYPOGONADOTROPIC HYPOGONADISM 23 WITHOUT ANOSMIA; HH23;;PASQUALINI SYNDROME;;FERTILE EUNUCH SYNDROME
id in db is: 296960
inserted disease: 114200 OMIM CAMPTODACTYLYSTREBLODACTYLY, INCLUDED
id in db is: 296961
inserted disease: 2297 ORPHA Insulin-resistance syndrome type A
id in db is: 296962
inserted disease: 30 ORPHA Hereditary orotic aciduria
id in db is: 296963
inserted disease: 614222 OMIM WARBURG MICRO SYNDROME 3; WARBM3
id in db is: 296964
inserted disease: 615082 OMIM #615082 C3HEX, ABILITY TO SMELL
id in db is: 296965
inserted disease: 314585 ORPHA 15q overgrowth syndrome
id in db is: 296966
inserted disease: 243700 OMIM #243700 HYPER-IgE RECURRENT INFECTION SYNDROME, AUTOSOMAL RECESSIVE;;HYPER-IgE SYNDROME, AUTOSOMAL RECESSIVE;;HIES, AUTOSOMAL RECESSIVE
id in db is: 296967
inserted disease: 2744 ORPHA Horizontal gaze palsy with progressive scoliosis
id in db is: 296968
inserted disease: 640 ORPHA Hereditary neuropathy with liability to pressure palsies
id in db is: 296969
inserted disease: 99803 ORPHA Haddad syndrome
id in db is: 296970
inserted disease: 50809 ORPHA Talo-patello-scaphoid osteolysis
id in db is: 296971
inserted disease: 616390 OMIM #616390 TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE; TTD2
id in db is: 296972
inserted disease: 615554 OMIM #615554 MULTIPLE FIBROADENOMAS OF THE BREAST; MFAB
id in db is: 296973
inserted disease: 614728 OMIM #614728 SECKEL SYNDROME 6; SCKL6
id in db is: 296974
inserted disease: 260650 OMIM PELLAGRA-LIKE SYNDROME
id in db is: 296975
inserted disease: 137608 ORPHA Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome
id in db is: 296976
inserted disease: 613211 OMIM #613211 AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA3; AI2A3
id in db is: 296977
inserted disease: 93383 ORPHA Brachydactyly type B
id in db is: 296978
inserted disease: 963 ORPHA Acromegaly
id in db is: 296979
inserted disease: 1155 ORPHA Arthrogryposis due to muscular dystrophy
id in db is: 296980
inserted disease: 233100 OMIM #233100 RENAL GLUCOSURIA; GLYS1;;GLYCOSURIA, RENAL
id in db is: 296981
inserted disease: 206800 OMIM ANONYCHIA CONGENITA
id in db is: 296982
inserted disease: 609283 OMIM PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 2; PEOA2
id in db is: 296983
inserted disease: 109400 OMIM #109400 BASAL CELL NEVUS SYNDROME; BCNS;;GORLIN SYNDROME;;GORLIN-GOLTZ SYNDROME;;NEVOID BASAL CELL CARCINOMA SYNDROME; NBCCS;;MULTIPLE BASAL CELL NEVI, ODONTOGENIC KERATOCYSTS, AND SKELETAL ANOMALIES
id in db is: 296984
inserted disease: 607745 OMIM #607745 SEIZURES, BENIGN FAMILIAL INFANTILE, 3; BFIS3;;CONVULSIONS, BENIGN FAMILIAL INFANTILE, 3; BFIC3;;SEIZURES, BENIGN FAMILIAL NEONATAL-INFANTILE; BFNIS
id in db is: 296985
inserted disease: 210900 OMIM BLOOM SYNDROME
id in db is: 296986
inserted disease: 246560 OMIM #246560 SPLIT-HAND/FOOT MALFORMATION 3; SHFM3;;SHSF3;;LIMB DEFICIENCIES, DISTAL, WITH MICROGNATHIA;;CHROMOSOME 10Q24 DUPLICATION SYNDROME
id in db is: 296987
inserted disease: 217335 ORPHA RIN2 syndrome
id in db is: 296988
inserted disease: 521 ORPHA Chronic myeloid leukemia
id in db is: 296989
inserted disease: 86909 ORPHA Myoclonic epilepsy of infancy
id in db is: 296990
inserted disease: 615703 OMIM #615703 MORBID OBESITY AND SPERMATOGENIC FAILURE; MOSPGF
id in db is: 296991
inserted disease: 614852 OMIM #614852 MICROCEPHALY 9, PRIMARY, AUTOSOMAL RECESSIVE; MCPH9
id in db is: 296992
inserted disease: 276413 ORPHA 10q22.3q23.3 microdeletion syndrome
id in db is: 296993
inserted disease: 251200 OMIM MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 1
id in db is: 296994
inserted disease: 224900 OMIM ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE; ECTD10B
id in db is: 296995
inserted disease: 811 ORPHA Shwachman-Diamond syndrome
id in db is: 296996
inserted disease: 610708 OMIM OPTIC ATROPHY 5
id in db is: 296997
inserted disease: 112200 OMIM %112200 BLUE RUBBER BLEB NEVUS;;BEAN SYNDROME
id in db is: 296998
inserted disease: 300424 OMIM #300424 RETINITIS PIGMENTOSA 23; RP23
id in db is: 296999
inserted disease: 157997 ORPHA Benign cephalic histiocytosis
id in db is: 297000
inserted disease: 271322 OMIM 271322 SPINOCEREBELLAR DEGENERATION WITH SLOW EYE MOVEMENTS; SDSEM
id in db is: 297001
inserted disease: 613717 OMIM #613717 TREACHER COLLINS SYNDROME 2; TCS2
id in db is: 297002
inserted disease: 611556 OMIM #611556 GLYCOGEN STORAGE DISEASE 0, MUSCLE; GSD0B;;GSD 0b;;; MUSCLE GLYCOGEN STORAGE DISEASE 0;;MUSCLE GLYCOGEN SYNTHASE DEFICIENCY
id in db is: 297003
inserted disease: 615863 OMIM DIARRHEA 7; DIAR7
id in db is: 297004
inserted disease: 201000 OMIM #201000 CARPENTER SYNDROME 1; CRPT1;;CARPENTER SYNDROME;;ACROCEPHALOPOLYSYNDACTYLY TYPE II;;ACPS II
id in db is: 297005
inserted disease: 140900 OMIM HEMANGIOMAS OF SMALL INTESTINE
id in db is: 297006
inserted disease: 220111 OMIM #220111 LEIGH SYNDROME, FRENCH CANADIAN TYPE; LSFC;;CYTOCHROME c OXIDASE DEFICIENCY, FRENCH CANADIAN TYPE;;COX DEFICIENCY, FRENCH CANADIAN TYPE;;COX DEFICIENCY, SAGUENAY-LAC-SAINT-JEAN TYPE;;LEIGH SYNDROME, SAGUENAY-LAC-SAINT-JEAN TYPE
id in db is: 297007
inserted disease: 168605 OMIM #168605 PERRY SYNDROME;;PARKINSONISM WITH ALVEOLAR HYPOVENTILATION AND MENTAL DEPRESSION
id in db is: 297008
inserted disease: 93316 ORPHA Spondylometaphyseal dysplasia, Schmidt type
id in db is: 297009
inserted disease: 300908 OMIM ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY
id in db is: 297010
inserted disease: 232400 OMIM #232400 GLYCOGEN STORAGE DISEASE III;;GSD III; GSD3;;FORBES DISEASE;;CORI DISEASE;;LIMIT DEXTRINOSIS;;AMYLO-1,6-GLUCOSIDASE DEFICIENCY;;AGL DEFICIENCY;;GLYCOGEN DEBRANCHER DEFICIENCY;;GDE DEFICIENCYGLYCOGEN STORAGE DISEASE IIIa, INCLUDED; GSD IIIa, INCLUDED;;GLYCOGEN STORAGE DISEASE IIIb, INCLUDED; GSD IIIb, INCLUDED;;GLYCOGEN STORAGE DISEASE IIIc, INCLUDED; GSD IIIc, INCLUDED;;GLYCOGEN STORAGE DISEASE IIId, INCLUDED; GSD IIId, INCLUDED
id in db is: 297011
inserted disease: 211600 OMIM CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 1
id in db is: 297012
inserted disease: 256540 OMIM NEURAMINIDASE DEFICIENCY WITH BETA-GALACTOSIDASE DEFICIENCY
id in db is: 297013
inserted disease: 48431 ORPHA Congenital cataracts-facial dysmorphism-neuropathy syndrome
id in db is: 297014
inserted disease: 608890 OMIM WAARDENBURG SYNDROME, TYPE 2D; WS2D
id in db is: 297015
inserted disease: 613094 OMIM MICROPHTHALMIA, ISOLATED 4
id in db is: 297016
inserted disease: 607261 OMIM *607261 EVC2 GENE; EVC2;;LIMBIN; LBN
id in db is: 297017
inserted disease: 118230 OMIM 118230 CHARCOT-MARIE-TOOTH DISEASE, GUADALAJARA NEURONAL TYPE
id in db is: 297018
inserted disease: 261800 OMIM PIERRE ROBIN SYNDROME
id in db is: 297019
inserted disease: 606595 OMIM CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F; CMT2F
id in db is: 297020
inserted disease: 268060 OMIM RETINOPATHY, PERICENTRAL PIGMENTARY, AUTOSOMAL RECESSIVE
id in db is: 297021
inserted disease: 246400 OMIM LETTERER-SIWE DISEASE
id in db is: 297022
inserted disease: 930 ORPHA Idiopathic achalasia
id in db is: 297023
inserted disease: 612567 OMIM #612567 INFLAMMATORY BOWEL DISEASE 25, AUTOSOMAL RECESSIVE; IBD25;;INFLAMMATORY BOWEL DISEASE, EARLY-ONSET, AUTOSOMAL RECESSIVE
id in db is: 297024
inserted disease: 269840 OMIM #269840 SELECTIVE T-CELL DEFECT; STCD
id in db is: 297025
inserted disease: 128200 OMIM #128200 EPISODIC KINESIGENIC DYSKINESIA 1; EKD1;;PAROXYSMAL KINESIGENIC CHOREOATHETOSIS; PKC;;PAROXYSMAL KINESIGENIC DYSKINESIA; PKD;;DYSTONIA, FAMILIAL PAROXYSMAL;;DYSTONIA 10; DYT10
id in db is: 297026
inserted disease: 604116 OMIM #604116 CONE-ROD DYSTROPHY 3; CORD3
id in db is: 297027
inserted disease: 600541 OMIM ETS VARIANT GENE 1
id in db is: 297028
inserted disease: 300273 OMIM GOITER, MULTINODULAR 2
id in db is: 297029
inserted disease: 609456 OMIM MUSCULAR DYSTROPHY, CONGENITAL, MEROSIN-POSITIVE
id in db is: 297030
inserted disease: 156900 OMIM MICROPHTHALMIA, ISOLATED, WITH CORECTOPIA
id in db is: 297031
inserted disease: 600093 OMIM SPONDYLOEPIPHYSEAL DYSPLASIA TARDA WITH CHARACTERISTIC FACIES
id in db is: 297032
inserted disease: 193 ORPHA Cohen syndrome
id in db is: 297033
inserted disease: 138800 OMIM GOITER, MULTINODULAR 1
id in db is: 297034
inserted disease: 516006 OMIM COMPLEX I, SUBUNIT ND6
id in db is: 297035
inserted disease: 251992 ORPHA Ganglioneuroma
id in db is: 297036
inserted disease: 457059 ORPHA Pseudohypoparathyroidism with Albright hereditary osteodystrophy
id in db is: 297037
inserted disease: 611719 OMIM #611719 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 5; COXPD5
id in db is: 297038
inserted disease: 615279 OMIM #615279 CARDIOFACIOCUTANEOUS SYNDROME 3; CFC3
id in db is: 297039
inserted disease: 613690 OMIM CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7; CMH7
id in db is: 297040
inserted disease: 93929 ORPHA Cloacal exstrophy
id in db is: 297041
inserted disease: 1393 ORPHA Cerebro-costo-mandibular syndrome
id in db is: 297042
inserted disease: 130300 OMIM ELECTROENCEPHALOGRAPHIC PECULIARITY: FRONTO-PRECENTRAL BETA WAVE GROUPS
id in db is: 297043
inserted disease: 163690 ORPHA Hypotonia-cystinuria syndrome
id in db is: 297044
inserted disease: 616278 OMIM BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5; CBAS5
id in db is: 297045
inserted disease: 303100 OMIM #303100 CHOROIDEREMIA; CHM;;TAPETOCHOROIDAL DYSTROPHY, PROGRESSIVE; TCDCHOROIDAL SCLEROSIS, INCLUDED
id in db is: 297046
inserted disease: 615418 OMIM #615418 MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE); MTDPS12
id in db is: 297047
inserted disease: 1326 ORPHA Camptodactyly syndrome, Guadalajara type 2
id in db is: 297048
inserted disease: 2639 ORPHA Fibular aplasia-complex brachydactyly syndrome
id in db is: 297049
inserted disease: 610248 OMIM DEAFNESS, AUTOSOMAL RECESSIVE 65; DFNB65
id in db is: 297050
inserted disease: 615851 OMIM PONTOCEREBELLAR HYPOPLASIA, TYPE 2E; PCH2E
id in db is: 297051
inserted disease: 105550 OMIM AMYOTROPHIC LATERAL SCLEROSIS AND/OR FRONTOTEMPORAL DEMENTIA 1
id in db is: 297052
inserted disease: 183707 ORPHA Neutrophil immunodeficiency syndrome
id in db is: 297053
inserted disease: 3135 ORPHA Familial Scheuermann disease
id in db is: 297054
inserted disease: 214300 OMIM KLIPPEL-FEIL SYNDROME, AUTOSOMAL RECESSIVE
id in db is: 297055
inserted disease: 178400 OMIM PULMONARY EDEMA OF MOUNTAINEERS
id in db is: 297056
inserted disease: 277970 OMIM 277970 WISKOTT-ALDRICH SYNDROME
id in db is: 297057
inserted disease: 608720 OMIM 608720 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, ADULT-ONSET, WITH ANOSMIA
id in db is: 297058
inserted disease: 612370 OMIM #612370 HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA; HH5
id in db is: 297059
inserted disease: 614407 OMIM %614407 MICROCEPHALY, CEREBELLAR HYPOPLASIA, AND CARDIAC CONDUCTION DEFECTSYNDROME; MCHCCD;;ZAKI-GLEESON SYNDROME
id in db is: 297060
inserted disease: 281201 ORPHA Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome
id in db is: 297061
inserted disease: 605711 OMIM #605711 MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1; MMDS1;;MMDS
id in db is: 297062
inserted disease: 610832 OMIM #610832 FANCONI ANEMIA, COMPLEMENTATION GROUP N; FANCN
id in db is: 297063
inserted disease: 98880 ORPHA Familial afibrinogenemia
id in db is: 297064
inserted disease: 2026 ORPHA Gingival fibromatosis-hypertrichosis syndrome
id in db is: 297065
inserted disease: 245 ORPHA Nager syndrome
id in db is: 297066
inserted disease: 977 ORPHA Adrenomyodystrophy
id in db is: 297067
inserted disease: 187390 OMIM TENDONS, EXTENSOR, OF FINGERS, ANOMALOUS INSERTION OF
id in db is: 297068
inserted disease: 241850 OMIM HYPOTHYROIDISM, ATHYROIDAL, WITH SPIKY HAIR AND CLEFT PALATE
id in db is: 297069
inserted disease: 266510 OMIM #266510 PEROXISOME BIOGENESIS DISORDER 3B; PBD3B
id in db is: 297070
inserted disease: 616738 OMIM #616738 RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2; RUSAT2
id in db is: 297071
inserted disease: 601552 OMIM #601552 FACIAL DYSMORPHISM, LENS DISLOCATION, ANTERIOR SEGMENT ABNORMALITIES,AND SPONTANEOUS FILTERING BLEBS; FDLAB;;TRABOULSI SYNDROME;;ECTOPIA LENTIS, SPONTANEOUS FILTERING BLEBS, AND CRANIOFACIAL DYSMORPHISM
id in db is: 297072
inserted disease: 614840 OMIM #614840 HYPOGONADOTROPIC HYPOGONADISM 11 WITH OR WITHOUT ANOSMIA; HH11
id in db is: 297073
inserted disease: 312550 OMIM RETINAL DYSPLASIA, PRIMARY
id in db is: 297074
inserted disease: 616266 OMIM CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY; CLIFAHDD
id in db is: 297075
inserted disease: 612691 OMIM POLYMICROGYRIA, BILATERAL TEMPOROOCCIPITAL; BTOP
id in db is: 297076
inserted disease: 234580 OMIM #234580 HEIMLER SYNDROME 1; HMLR1;;HEARING LOSS, SENSORINEURAL, WITH ENAMEL HYPOPLASIA AND NAIL DEFECTS;;PEROXISOME BIOGENESIS DISORDER 1C; PBD1C
id in db is: 297077
inserted disease: 180500 OMIM AXENFELD-RIEGER SYNDROME, TYPE 1; RIEG1
id in db is: 297078
inserted disease: 601885 OMIM #601885 CATARACT, ZONULAR PULVERULENT 3; CZP3;;CAE3
id in db is: 297079
inserted disease: 99969 ORPHA Pleomorphic liposarcoma
id in db is: 297080
inserted disease: 126 ORPHA Blepharophimosis-epicanthus inversus-ptosis syndrome
id in db is: 297081
inserted disease: 2145 ORPHA Craniosynostosis, Herrmann-Opitz type
id in db is: 297082
inserted disease: 264500 OMIM PSEUDOURIDINURIA AND MENTAL DEFECT
id in db is: 297083
inserted disease: 314560 OMIM VON WILLEBRAND DISEASE, X-LINKED FORM
id in db is: 297084
inserted disease: 249100 OMIM FAMILIAL MEDITERRANEAN FEVER
id in db is: 297085
inserted disease: 858 ORPHA Congenital toxoplasmosis
id in db is: 297086
inserted disease: 615267 OMIM #615267 HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA; HH18
id in db is: 297087
dumping to file: ./MYHPO_03_2017.sql
  calling: [mysqldump, --user=hudson_mysql, --password=hpo_hudson, --host=localhost, --port=3306, MYHPO_03_2017]
Done dumping to file.
exiting...
make: Leaving directory '/var/lib/jenkins/jobs/hpo.annotations.monthly/workspace/annotation'
Archiving artifacts
Sending e-mails to: sebastian.koehler@charite.de
Finished: SUCCESS