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


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

autosomal dominant Segawa

Dysmorphism multiple structural

B-cell chronic Leukemia

syndrome Arthrocutaneouveal granulomatosis Organic mood syndrome


Dystonia progressive with familial juvenile systemic

Dysmorphic facial features and

Chronic B-cell leukemia

diurnal variation

Granulomatosis Organic personality syndrome

Organoid nevus with sebaceous

differentiation a speckled-

multiple structural abnormalities

lentiginous nevus and other Thalamic degeneration symmetrical

B-cell chronic lymphocytic leukemia AD-DRD Blau syndrome

associated anomalies

a speckled-lentiginous nevus and

other associated anomalies


Organoid nevus with sebaceous Symmetrical infantile thalamic

C-CLL Dystonia 5

Dopa-responsive autosomal

Granulomatosis familial Blau type differentiation


B-Cell Lymphoma

dominant Dystonia ACUG Phacomatosis pigmentokeratotica Thalamic degenerescence infantile

B-cell lymphomas Dopa-responsive Dystonia

autosomal dominant Dopa-

familial Blau type Granulomatosis Ornithinemia Thalamic syndrome

Lymphoma B-Cell

responsive dystonia

progressive with diurnal

Jackson-Barr syndrome Oro acral syndrome Dejerine Roussy syndrome

B-cell prolymphocytic leukaemia variation Dystonia Deafness conductive Orocraniodigital syndrome Thalassemia

Segawa syndrome autosomal

Cleft lip/palate with abnormal


dominant Jacobsen syndrome

thumbs and microcephaly thalassemia major

Dystonia Dopa-responsive

Thalassemia minor (Beta-

Budd-Chiari syndrome

autosomal dominant Chromosome 11q deletion syndrome Orofaciodigital syndrome 4 thalassemia minor)

Bd syndrome Dystrophinopathy Partial 11q monosomy syndrome OFD syndrome 4

Orofaciodigital syndrome with tibial

Thalassemia intermedia

Beals-Hecht syndrome E.M.C. Jadassohn Lewandowsky syndrome dysplasia Erythroblastic anemia

multiple with arachnodactyly



Ear anomalies-contractures-

carcinoma PC1 Baraitser-Burn syndrome Beta-thalassemia

dysplasia of bone with kyphoscoliosis E.V. Pachyonychia congenita type 1

Pachyonychia congenita Jadassohn

OFD4 beta-thalassemia major

Beals syndrome EV1

Lewandowsky type OFD syndrome with tibial defects Mediterranean anemia

Arachnodactyly contractural Beals Epidermodysplasia

Orofaciodigital syndrome Gabrielli Thalassemia major (Beta-


verruciformis Jaffe campanacci syndrome


thalassemia major)

contractural Beals type

Orofaciodigital syndrome Thurston

Arachnodactyly EA syndrome Fibromatosis multiple non ossifying type Thalassemia minor

Congenital contractural

Disseminated nonossifying fibromas


Contractures multiple with

Episodic Ataxia syndrome in association with cafe-au-lait spots Orofaciodigital syndrome type 2 Thalidomide embryopathy

arachnodactyly Eagle-Barret syndrome Jaffer Beighton syndrome Orofaciodigital syndrome type 5 Thanatophoric dysplasia

Arachnodactyly joint laxity and

Thanatophoric dysplasia Glasgow

Bean syndrome Eales disease

spondylolisthesis Orofaciodigital syndrome


Idiopathic obliterative

joint laxity and spondylolisthesis

Neonatally lethal short-limb skeletal



Arachnodactyly Orofaciodigital syndrome type 8 dysplasia glasgow type

Idiopathic recurrent vitreal

glasgow type Neonatally lethal short-

Blue rubber bleb nevus

hemorrhage Jagell holmgren hofer syndrome OFD syndrome type 8

limb skeletal dysplasia

Ichthyosis alopecia eclabion

Orofaciodigital syndrome with

Blue rubber bleb nevus syndrome ear malformation

ectropion mental retardation

fibular apalsia Thanos Stewart Zonana syndrome

the presence of large clumps of

pigment in hair shafts Pigmentary

Beardwell syndrome Sellars-Beighton syndrome JakschÆ syndrome Orofaciodigital syndrome type 10 dilution of the skin and hair

Familial ankylosing vertebral

Atrophic polychondritis cartilagenous Oromandibular limb hypogenesis

hyperostosis with tylosis Earlobes

arthritic deafness syndrome

complex Griscelli syndrome type 1

Griscelli syndrome with neurologic

Beare stevenson syndrome conductive deafness

Early cutaneous

Jaksch Wartenhorst's syndrome Hanhart syndrome


Cutis Gyrata syndrome of Beare and photosensitivity and severe Meyenburg-Altherr-Uehlinger

Griscelli syndrome cutaneous and



syndrome Oromandibular limb hypoplasia neurologic type

Beare-Stevenson Cutis Gyrata lethal Cutaneous

cutaneous and neurologic type


photosensitivity and colitis Ashkenazi syndrome Hanahart syndrome

Griscelli syndrome

Pigmentary dilution of the skin and

Early infantile epileptic

cartilagenous arthritic deafness

hair the presence of large clumps of



syndrome Atrophic polychondritis Aglossia adactylia

pigment in hair shafts

Partial albinism and primary

neurologic disease without

Benign essential blepharospasm EIEE

Early myoclonic

Von Jaksch Wartenhorst's syndrome Orotic aciduria hereditary

hemophagocytic syndrome

Becker nevus syndrome


early onset of peripheral

gangrene Neuroaxonal

dystrophy presenting with

Jamaican vomiting syndrome Orotic aciduria purines-pyrimidines Theodor Hertz Goodman syndrome

Becker's nevus

neonatal dysmorphic features Ackee fruit Oroticaciduria Thermosensitive neuropathy

Hunter Carpenter Macdonald

Orotidylic decarboxylase

Thiamine responsive megaloblastic

Beckwith-Wiedemann syndrome syndrome

Neuroaxonal dystrophy

presenting with neonatal

Blighia sapida


anemia syndrome

Exomphalos macroglossia gigantism dysmorphic features early


onset of peripheral gangrene Jankovic Rivera syndrome Oroya fever Abboud syndrome

thiamine-dependent megaloblastic

anemia and sensorineural deafness

associated with deficient alpha-

Wiedemann-Beckwith Syndrome

Hereditary myoclonus and

ketoglutarate dehydrogenase act

(WBS) Early onset torsion dystonia progressive distal muscular atrophy Carrion disease

Diabetes mellitus

Torsion dystonia 1 autosomal

Bartonellosis due to Bartonella

emg syndrome

dominant Japanese encephalitis

bacilliformis infection Thiamine responsive myelodysplasia

Diabetes mellitus thiaminedependent

megaloblastic anemia

and sensorineural deafness

autosomal dominant Torsion

associated with deficient alpha-

Beemer Ertbruggen syndrome

Beemer lethal malformation

dystonia 1 JBS ORW3

ketoglutarate dehydrogenase act

syndrome EOTD Johanson-Blizzard syndrome Osler-rendu-weber syndrome 3 Rogers syndrome

Dystonia musculorum

hereditary hemorrhagic type 3 Thiamine-responsive megaloblastic

Beemer-Ertbruggen syndrome deformans type 1 JBTS3


anaemia syndrome

early onset with diurnal

Telangiectasia hereditary

Behcet syndrome

fluctuation Parkinsonism

Parkinson disease autosomal

Joubert syndrome 3

hemorrhagic type 3 Roger disease

Behcet disease

recessive early onset JBTS4 OSCC Thiemann disease

Parkinsonism early onset with

Aseptic necrosis of phalangeal

Behrens Baumann Dust syndrome diurnal fluctuation Joubert syndrome 4 oral SCC



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