Nuove politiche per l'innovazione nel settore delle scienze della vita

• Short-link
• Link
• Embed

Charcot-Marie-Tooth disease axonal Gershinibaruch Leibo Spondylodysplasia with pure Type 2G syndrome Wedge-shaped epiphyses of knees Cupped metaphyses and cone- brachyolmia X-linked Pro<strong>per</strong>din deficiency shaped epiphyses of knees with recessive Spastic paraplegia type CMT 2H Gestational pemphigoid brachydactyly Metaphyseal and epiphyseal 5A type 1 Pro<strong>per</strong>din deficiency Charcot-Marie-Tooth disease axonal dysplasia with unusual facies and Type 2H Herpes gestationis cataract SPG5A Pro<strong>per</strong>din P factor deficiency Type 2H Charcot-Marie-Tooth Kozlowski Rafinski Klicharska Autosomal recessive spastic disease Pemphigoid gestationis syndrome paraplegia Pro<strong>per</strong>din deficiency type 1 axonal Type 2H Charcot-Marie-Tooth Gestational trophoblastic X-linked pseudoautosomal Hodgkin disease disease metaphyseal chondrodysplasia recessive type 2 Cutis laxa disease Metaphyseal chondrodysplasia Murk X-linked recessive 3 Charcot-Marie- CMT 4B2 GTD Jansen type recessive type Larsen syndrome Multiple congenital dislocations Tooth disease Type 4B2 Charcot-Marie-Tooth Gestational trophoblastic Murk Jansen type metaphyseal associated with characteristic disease tumors chondrodysplasia facial abnormality CMTX3 Gestational Trophoblastic Jansen type metaphyseal X-linked recessive Exsudative CMT DI1 Neoplasms chondrodysplasia Rectal cancer retinopathy familial dominant intermediate 1 Charcot- Metaphyseal chondrodysplasia Marie-Tooth disease Gestationis pemphigoid Schmid type Rectal neoplasm X-linked SCID Metaphyseal dysostosis mental X-linked Severe combined CMT DI2 GGF3 retardation conductive deafness Rectosigmoid neoplasm Recurrent hepatitis C virus immunodeficiency dominant intermediate 2 Charcot- Metaphyseal dysostosis conductive induced liver disease in liver Marie-Tooth disease gingival 3 Fibromatosis hearing loss and mental retardation transplant recipients Immunodeficiency 4 conductive hearing loss and mental recurrent infections and CMT I HGF3 retardation Metaphyseal dysostosis monocytosis Holoprosencephaly recurrent of childhood X-SCID CMT1A GINGF3 Metaphyseal dysplasia Encephalopathy Neuhauser Eichner Opitz SCID X-linked CMTD-2 GGM Pyle disease syndrome SCIDX Glucose galactose Metaphyseal dysplasia with little Encephalopathy recurrent of CMTD malabsorption deficiency Glucose-galactose involvement of the cranial bones childhood X-linked Situs inversus Charcot-Marie-Tooth disease malabsorption Edwin Pyle disease Metaphyseal dysplasia maxillary Recurrent <strong>per</strong>ipheral facial palsy X-linked Spastic paraplegia 2 CMT 1 GGT deficiency hypoplasia brachydacty Metaphyseal dysplasia maxillary Recurrent trichofolliculoma (type) SPPX2 CMT2 Glutathionuria hypoplasia brachydactyly Trichofolliculoma spg2 CMTX2 GGT1 deficiency Metaphyseal dysplasia Pyle type Congenital trichofolliculoma (type) Folliculo-sebaceous cystic X-linked Spastic paraplegia type 1 X-linked recessive 2 Charcot-Marie- Gamma-glutamyltransferase hamartoma ( is a trichofolliculoma X-linked syndromic 5 Mental Tooth disease deficiency Metastatic insulinoma at its very late stage) retardation Gamma- basal ganglia disease and seizures glutamyltranspeptidase Metastatic squamous neck cancer Dandy-Walker malformation with CMV antenatal infection deficiency with occult primary Sebaceous trichofolliculoma (type) Reductional transverse limb mental retardation COA Syndrome GTG deficiency metatarsal type Czech dysplasia progressive with hypoplastic toes defects Pettigrew syndrome Cervico-Oculo-Acoustic Syndrome GHD Pseudorheumatoid dysplasia Refetoff syndrome PGS Pseudorheumatoid dysplasia Mental retardation X-linked Wildervanck syndrome Growth hormone deficiency progressive with hypoplastic toes THRB syndromic 5 COACH syndrome Ghosal syndrome Metatarsus adductus GRTH MRXS5 Coarctation of aorta autosomal X-linked syndromic 6 Mental dominant giant axonal Neuropathy Metatrophic dysplasia Thyroid hormone receptor BETA retardation Generalized resistance to thyroid Wilson-Turner X-linked mental Coarctation of aorta dominant Giant axonal neuropathy 1 Metatropic dwarfism type 2 hormone retardation syndrome coarse face GAN1 Kniest dysplasia Reflex epilepsy MRXS6 Refractory anaemia with excess Wilson Turner mental retardation hypopigmentation GAN type 2 Metatropic dwarfism blasts syndrome Mental retardation X-linked Coarse face hypotonia constipation Neuropathy giant axonal Metatropic dysplasia 2 RAEB syndromic 6 Refractory cytopenia with X-linked with gynecomastia and Cocaine embryofetopathy Giant cell fibroblastoma Metatropic dysplasia 1 multilineage dysplasia obesity Mental retardation Dermatofibrosarcoma Mental retardation X-linked with Cocaine fetopathy protuberans Metastatic Metatropic dwarfism RCMD gynecomastia and obesity dermatofibrosarcoma X-linked syndromic 8 Mental Cocaine poisoning protuberans (subtype) Methanol poisoning Refsum disease Heredopathia atactica retardation Coccydynia dfsp Methimazole antenatal infection polyneuritiformis MRXS8 Familial dermatofibrosarcoma X-linked mental retardation Thiele syndrome protuberans (subtype) Methimazole embryofetopathy HMSN 4 syndromic 3 Giant condyloma of Buschke Methionine adenosyl transferase Coccygodynia and L÷wenstein deficiency Phytanic acid storage disease MRXS3 Herditary sensory and motor Mental retardation X-linked Cochleosaccular degeneration Buschke Lowenstein Tumor Giant condyloma acuminatum Methionine synthase deficiency neuropathy Renpenning type Cochleosaccular degeneration of the involving the prepuce and Tetrahydrofolate-methyltransferase Refsum disease with increased inner ear and progressive cataracts glans penis deficiency syndrome pipecolic acidemia Reginato-Schiapachasse Renpenning syndrome 1 Cockayne syndrome Giant congenital nevi Arakawa's syndrome 2 syndrome Sutherland-Haan syndrome Cockayne-Touraine type N5-methylhomocysteine transferase Regional choroidal atrophy and X-linked mental retardation with epidermolysis bullosa Giant ganglionic hy<strong>per</strong>plasia deficiency alopecia spastic diplegia Giant granulo-cellular Sutherland-Haan X-linked mental Weber-Cockayne syndrome Abrikosov's tumor Methotrexate toxicity Choroidal atrophy alopecia retardation syndrome Mental retardation X-linked EBS acral form Abrikosov's tumor Methyl mercury antenatal infection Moloney syndrome syndromic 8 Methylcobalamin deficiency cbl G X-linked Renpenning type Mental acral form EBS Granulosa cell tumor type Regional odontodysplasia retardation Epidermolysis bullosa simplex Methylcobalamin deficiency type cbl Weber-Cockayne type Abrikosoff's tumor G Ghost teeth X-linked type 2 Agammaglobulinemia Cockayne-Touraine type Malignant variant of Homocystinuria due to methionine Reinhardt-Pfeiffer mesomelic Epidermolysis bullosa simplex Abrikosov's tumor synthase deficiency dysplasia XLA2 Epidermolysis bullosa of hands and Abrikosoff's granulous cell feet Weber-Cockayne type epidermolysis tumor Methylmalonic acidemia cblB type Hypoplasia of Ulna and Fibula AGMX2 bullosa simplex Giant hy<strong>per</strong>trophic gastritis Methylmalonic aciduria cblB type Reinhardt Pfeiffer syndrome X-linked VACTERL-H syndrome CODAS syndrome Giant mammary hamartoma Methylmalonic acidemia with Reinhardt-Pfeiffer mesomelic X-linked VACTERL association with 259

homocystinuria skeletal dysplasia hydrocephaly X-linked with cerebellar hypoplasia Methylmalonic acidemia and Mesomelic dwarfism of hypoplastic and distinctive facial appearance Coenzyme Q 10 Giant hamartoma of the breast homocystinuria cblC type ulna and fibula type Mental retardation Coenzyme Q cytochrome c Cobalamin-C methylmalonic Mesomelic dwarfism Reinhardt reductase deficiency Giant papillary conjunctivitis acidemia and homocystinuria Pfeiffer type formerly MRX60 Coenzyme Q cytochrome c Methylmalonic acidemia and Rejection after corneal X-linked 60 formerly Mental reductase deficiency of GPC homocystinemia transplantation retardation Giant pelvic retro<strong>per</strong>itoneal Methylmalonyl-Coenzyme A Relapsing febrile nodular Coffin syndrome liposarcoma epimerase deficiency nonsuppurative panniculitis MRX60 formerly Mental retardation X-linked 60 Coffin-Lowry syndrome Retro<strong>per</strong>itoneal liposarcoma Methylmalonicaciduria Idiopathic lobular panniculitis formerly Mental retardation with Pelvic retro<strong>per</strong>itoneal Methylmalonyl-Coenzyme A mutase X-linked with excessive autophagy osteocartilaginous abnormalities liposarcoma deficiency Idiopathic nodular panniculitis Myopathy Relapsing febrile nodular X-linked with Hutchinsonian Teeth Cogan syndrome Giant pigmented hairy nevus Gigantism advanced bone age MCM Deficiency panniculitis Cataract Cogan-Reese syndrome hoarse cry Mevalonicaciduria Weber-Christian panniculitis Cataract-Dental Syndrome Nodular non-suppurative Cataract X-linked with Hutchinsonian Cohen Lockood Wyborney syndrome Blepharophimosis ptosis syndactyly Gillerot Mevalonic aciduria panniculitis Teeth mental retardation disorder of sex development Mevalonate kinase deficiency Pfeiffer-Weber-Christian syndrome Nance-Horan syndrome COIF syndrome Verloes Pagetoid reticulosis Relapsing fever Mesiodens-Cataract Syndrome X-linked with mental deterioration Iso-Kikuchi syndrome Gingival fibromatosis dominant SzS Relapsing polychondritis SEMD Gingival fibromatosis facial Sketetal dysplasia coarse facies Onychodysplasia of the index fingers dysmorphism Sezary syndrome Renal adenocarcinoma mental retardation Colangite esclerosante SEMD X-linked with mental porracoccidiodomicose Gingival fibrosis Mycosis fungoides Renal cell carcinoma 1 deterioration Spondyloepimetaphyseal dysplasia Paracoccidioidomycosis Glanders Cutaneous T cell lymphoma Hy<strong>per</strong>nephroma X-linked with mental deterioration PARA Burkholderia mallei infection Glanzmann thrombasthenia CTCL Kidney cancer XLPD Cola<strong>vita</strong> Kozlowski syndrome type A Woringer kolopp disease Renal adysplasia X-linked lymphoproliferative disease Short limb dwarf lethal Cola<strong>vita</strong> deficiency of Platelet fibrinogen Kozlowski type receptor Sezary's lymphoma Renal adysplasia dominant type Renal agenesis meningomyelocele mullerian XMR Colchicine poisoning Glanzmann thrombasthenia MGA 3 defect X-linked mental retardation Platelet glycoprotein 2 b-3a Renal and anogenital Cold agglutination syndrome deficiency MGA 4 malformations with syndactyly x-splenomegaly Platelet fibrinogen receptor Green Sandford Davison Cold antibody disease deficiency of MGCT syndrome renal and ureter agenesis/dysgenesis and intrauterine growth retardation Splenomegaly Thrombasthenia of Glanzmann (IUGR) Syndrome of unilobed or hemolytic cold antibody Anemia and Naegeli Deficiency of GP 2 b 3 a Malignant germ cell tumor absent thymus XX male syndrome Anemia hemolytic cold antibody complex MGUS Thymic-Renal-Anal-Lung dysplasia Syndrome of unilobed or absent thymus renal and ureter agenesis/dysgenesis and XX sex reversal type A Glanzmann intrauterine growth retardation Anemia autoimmune hemolytic thrombasthenia MGUS:128 (IUGR) XXSR Monoclonal gammopathy of predisposition to squamous cell CAD Glass bone disease Glass Chapman Hockley undetermined significance Renal artery stenosis carcinoma AHIA syndrome Craniosynostosis MH Renal caliceal diverticuli deafness XY Female autoimmune hemolytic Anemia brachydactyly Glass-Chapman-Hockley Mucha-Habermann disease Renal cell carcinoma 4 XY female 46 Cold antibody hemolytic anemia syndrome MHC class 1 or class 2 deficiency RCC4 46 XY female Glassy cell adenocarcinoma of renal dysfunction and cholestasis Cold agglutinin disease the uterine cervix MHS Arthrogryposis multiplex congenita XY female type Gonadal dysgenesis Glassy cell carcinoma of the Malignant hy<strong>per</strong>thermia Cold contact urticaria cervix susceptibility type 1 ARC syndrome Y chromosome <strong>per</strong>icentric inversion Glastre Cochat Bouvier Arthrogryposis renal dysfunction Urticaria cold syndrome Familial infantile nephrotic Hy<strong>per</strong>pyrexia malignant cholestasis syndrome Y-chromosome microdeletions syndrome with ocular Arthrogryposis multiplex congenita Primary idiopathic cold urticaria abnormalities Hy<strong>per</strong>thermia of anesthesia renal dysfunction and cholestasis Partial deletion of Y Nephrotic syndrome ocular Renal dysplasia diffuse autosomal cold Urticaria anomalies MHS6 recessive Partial deletion of chromosome Y Malignant hy<strong>per</strong>pyrexia susceptibility Partial deletion of the long arm of the Urticaria idiopathic cold Cold-induced painful or pruritic Glaucoma hereditary type 6 Renal dysplasia diffuse cystic Y chromosome erythematous or violaceous acral Glaucoma Malignant hy<strong>per</strong>thermia Partial deletion of Y chromosome papular or nodular lesions iridogoniodysgenesia susceptibility type 6 Diffuse cystic renal dysplasia Renal dysplasia hepatic fibrosis short arm Chilblains Glaucoma sleep apnea Michels syndrome dandy walker Yellow mutant albinism Idiopathic <strong>per</strong>niosis Glaucoma type 1C Oculopalatoskeletal syndrome Kudo tamura fuse syndrome Yellow albinism cold-sensitive Stomatocytosis Glioblastoma Craniosynostosis with lid anomalies Renal dysplasia limb defects Renal dysplasia megalocystis Albinism yellow mutant type Cryohydrocytosis Glioblastoma multiforme Mickleson syndrome sirenomelia Renal dysplasia mesomelia and Oculocutaneous albinism type 1B Pseudohy<strong>per</strong>kalemia Cardiff Glioma Mickulicz disease radiohumeral fusion mesomelia and radiohumeral yellow mutant type Albinism Stomatocytosis cold-sensitive Gliomatosis cerebri Micrencephaly fusion Renal dysplasia Renal dysplasia - limb defects Yellow nail syndrome Cole carpenter syndrome Global developmental delay Proud-Levine-Carpenter syndrome syndrome YNS Micrencephaly corpus callosum Yemenite deaf-blind Cole-Hughes syndrome ectodermal defect agenesis RL syndrome hypopigmentation syndrome Global disaccharide Micrencephaly olivopontocerebellar Benign familial megalencephaly intolerance Glomerular basement hypoplasia Ulbright Hodes syndrome Warburg Thomsen syndrome membrane disease nail-patella Renal dysplasia mesomelia Yemenite (Warburg) deaf-blind Benign familial macrocephaly syndrome type Micro syndrome radiohumeral fusion hypopigmentation syndrome nail-patella syndrome type Renal dysplasia or hydronephrosis Coleman Randall syndrome Glomerular basement Microbrachycephaly oligohydramnios and subsequent Yersiniosis 260