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


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

Type 2B2 degraded tetracycline


Cerebro-facio-articular syndrome of

CMT 2B2 Fetal indomethacin syndrome Recurrent Scarring Aphthae


Van Maldergem

Type 2B2 Charcot-Marie-Tooth

Van maldergem wetzburger verloes

disease Fetal iodine syndrome Recurrent Aphthous Ulcer Pregnancy-related cholestasis syndrome

neuronal Type 2B2 Charcot-Marie-

Recurrent intrahepatic cholestasis

Tooth disease

Charcot-Marie-Tooth disease with

Fetal left ventricular aneurysm Aphthous Ulcer Recurrent

of preganancy Cerebro facio articular syndrome

palmoplantar keratoderma and nail

Intrahepatic cholestasis of

Van Regemorter Pierquin Vamos

dystrophy Fetal macrosomia Sutton disease 2



Keratoderma palmoplantar spastic

Vancomycin-resistant enterococcal

paralysis Fetal methimazole syndrome RAU Prekallikrein deficiency


Keratoderma palmoplantar with nail

Premature chromosome

dystrophy and hereditary motor- Fetal methyl mercury

condensation with microcephaly

sensory neuropathy

Axonal neuropathy with palmoplantar

syndrome Aphthous Stomatitis Recurrent and mental retardation Vanishing testes syndrome


palmoplantar with nail dystrophy and

Fetal minoxidil syndrome Major hyperlipidemia Premature menopause Anorchidia

hereditary motor-sensory neuropathy Fetal parainfluenza virus type 3


Charcot-Marie-Tooth disease with

syndrome Mal de debarquement Ovarian failure XY gonadal agenesis

ptosis and parkinsonism

Charcot-Marie-Tooth hereditary

Fetal parvovirus syndrome Mal de debarquement syndrome Premature ovarian failure Absent testes

neuropathy Fetal phenothiazine syndrome Mal de Meleda POF

Premature senility premature

Varadi-Papp syndrome

Charcot-Marie-Tooth neuropathy and

Keratosis palmoplantaris

graying and loss of scalp hair

deafness autosomal dominant Fetal prostaglandin syndrome transgradiens of Siemens

wrinkled skin of the palms Variant CJD

demyelinating Type 1E Charcot-


Bird-headed dwarfism with

Marie-Tooth disease Fetal thalidomide syndrome Dysplasia-Nasal Alar Hypoplasia features of premature senility

premature graying and loss of


Charcot-Marie-Tooth disease

Ectodermal Dysplasia-Exocrine scalp hair wrinkled skin of the

demyelinating Type 1E Fetal transfusion syndrome Pancreatic Insufficiency

palms Premature senility Variant Creutzfeldt-Jakob disease

Charcot-Marie-Tooth disease and

Prenatal axonal dystrophy and

deafness Fetofetal transfusion syndrome Johanson Blizzard syndrome osteopetrosis New variant of CJD

Twin-to-twin transfusion

Osteopetrosis and infantile


syndrome Malakoplakia

neuroaxonal dystrophy Variant Creutzfeldt-Jacob disease

autosomal dominant Charcot-Marie-

Infantile osteopetrosis and

Tooth neuropathy and deafness FFTS Malacoplakia

neuronal storage disease variants Klinefelter syndrome

Charcot-Marie-Tooth peroneal

Prenatal growth retardation

muscular atrophy X-linked with Twin twin transfusion

progressive pancytopenia and

aplasia cutis congenita

syndrome Malakoplasia

cerebellar hypoplasia 49XXXXY syndrome

X-linked with aplasia cutis congenita

progressive pancytopenia and

Charcot-Marie-Tooth peroneal

cerebellar hypoplasia Prenatal

muscular atrophy Fetal varicella infection male hypogonadism

growth retardation XXXY males

Charcot Marie Tooth type 1 aplasia

male internal

Cerebellar hypoplasia with

cutis congenita Congenital varicella syndrome

Fetal effects of varicella zoster


pancytopenia Varicella virus antenatal infection

Charcot-Marie-Tooth type 6

virus Persistent oviduct syndrome Hoyeraal Hreidarsson syndrome

Presenile dementia with spastic

Varicella Zoster

CMT6 Fetal varicella zoster syndrome Persistent Mullerian duct syndrome ataxia V-Z

Peripheral neuropathy and optic

Persistent mullerian duct syndrome

atrophy Fetal effects of Chickenpox types 1 and 2 FBD Vascular disruption sequence

Pseudohermaphroditism male Cerebral amyloid angiopathy

CHARGE association

Familial CHARGE syndrome

Varicella Embryopathy


British type Vascular leukoencephalopathy

(subtype) Fetal varicella syndrome Hernia uteri inguinale familial British Dementia Vascular malposition

Female genital ducts in otherwise British type Cerebral amyloid

CHARGE syndrome Fetal warfarin syndrome normal male

types 1 and 2 Persistent mullerian

angiopathy Vascular purpura

Hall-Hittner syndrome FFDD type I

Bitemporal aplasia cutis

duct syndrome Pretibial epidermolysis bullosa Henoch-Schonlein purpura

Charge like syndrome

congenital male limited Precocious puberty Prieto syndrome

X-linked with dysmorphism and

cerebral atrophy Mental

Purpura Schonlein-Henoch

Abruzzo-Erickson syndrome FG syndrome 2 Pubertas Praecox


X-linked syndromic 2 Mental

Anaphylactoid purpura

CHARGE like syndrome X linked FG syndrome 4 Testotoxicosis


Mental retardation X-linked with

Henoch Schonlein purpura

Abruzzo Erickson syndrome FGS4 Familial Testotoxicosis (subtype) dysmorphism and cerebral atrophy Schonlein-Henoch Purpura

Sexual precocity familial

X-linked dysmorphic syndrome

X linked CHARGE like syndrome FGS3


with mental retardation Vasculitis hypersensitivity

familial gonadotropin-independent Prieto X-linked mental retardation

Charlie M syndrome FG syndrome 3

Sexual precocity

syndrome Leukocytoclastic angiitis

Vasopressin-resistant diabetes

Cheilitis glandularis FHCC Precocious puberty male limited MRXS2


Fibrolamellar hepatocellular Male pseudohermaphroditism due to Mental retardation X-linked

Cheilitis Granulomatosa


5-alpha-reductase 2 deficiency syndromic 2 Vasquez Hurst Sotos syndrome

Fibrolamellar variant of Male pseudohermaphroditism due to

Melkersson-Rosenthal syndrome hepatocellular carcinoma defective LH molecule Prieto-Badia-Mulas syndrome Vasquez-Hurst-Sotos syndrome

Hepatocellular carcinoma Male sterility due to Y-chromosome

Melkersson syndrome

(fibrolamellar variant)

deletions Primary agammaglobulinemia gynecomastia

MRS FL HCC Y chromosome microdeletions Primary aldosteronism

Primary amebic

Vasterbotten dystrophy

Chemke oliver mallek syndrome FI-HCC Y chromosome deletions

meningoencephalitis Bothnia retinal dystrophy

Chemke syndrome Fibrinogen deficiency Deleted in azoospermia PAME VATER association

Meningoencephalitis caused by Vein of Galen aneurysm

COD (cerebroocular dysgenesis) fibrocartilaginous Embolism Malformations in neuronal migration Naegleria fowleri


HARD syndrome Embolism fibrocartilaginous Malignant astrocytoma PAM

Primary amenorrhoea with

coloboma and total agenesis of the

Vein of Galen aneurysm

Warburg syndrome Fibrochondrogenesis

Fibrocystic pulmonary

malignant Atrophic papulosis corpus callosum Ectasia or varix of the vein of Galen

Hard +/- E syndrome

dysplasia Degos syndrome Calloso-genital dysplasia Galenic arteriovenous malformation

Cherry-red-spot Hamman-Rich disease Atrophic papulosis malignant Primary cutaneous amyloidosis Galen vein aneurysm

Vein of Galen arteriovenous

Normomorphic sialidosis cryptogenic Fibrosing alveolitis Degos disease PCA


Degos's malignant atrophic

Primary cutaneous CD30-positive

Sialidosis type 1 Hamman-Rich syndrome papulosis

T-cell lymphoproliferative disorders Velofacioskeletal syndrome

Cherubism gingival fibromatosis Familial idiopathic pulmonary

mental retardation

fibrosis Malignant fever Primary effusion lymphoma Velopharyngeal incompetence


More magazines by this user
Similar magazines