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

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

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 retroperitoneal Methylmalonyl-Coenzyme A

Relapsing febrile nodular

Coffin syndrome

liposarcoma

epimerase deficiency

nonsuppurative panniculitis MRX60 formerly

Mental retardation X-linked 60

Coffin-Lowry syndrome Retroperitoneal liposarcoma Methylmalonicaciduria Idiopathic lobular panniculitis formerly

Mental retardation with

Pelvic retroperitoneal

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 Hypernephroma

X-linked with mental deterioration

PARA Burkholderia mallei infection

Glanzmann thrombasthenia

CTCL Kidney cancer XLPD

Colavita Kozlowski syndrome type A Woringer kolopp disease Renal adysplasia X-linked lymphoproliferative disease

Short limb dwarf lethal Colavita 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 hyperthermia

Cold contact urticaria

cervix

susceptibility type 1 ARC syndrome Y chromosome pericentric inversion

Glastre Cochat Bouvier

Arthrogryposis renal dysfunction

Urticaria cold

syndrome

Familial infantile nephrotic

Hyperpyrexia malignant

cholestasis syndrome Y-chromosome microdeletions

syndrome with ocular

Arthrogryposis multiplex congenita

Primary idiopathic cold urticaria abnormalities Hyperthermia 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 hyperpyrexia 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 hyperthermia

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 perniosis 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

Pseudohyperkalemia 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

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