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


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

edema retardation and peculiar facies

Progressive Encephalopathy with

deafness/malformed ears mental

Autoimmune lymphoproliferative

edema Hypsarrhythmia and Optic

retardation and peculiar facies

syndrome Double discordance

atrophy OCA2

Syndrome of microcephaly


Autoimmune lymphoproliferative

Double discordia infantile cerebral Gaucher disease OCA1 Kawashima tsuji syndrome

syndrome type 1 autosomal

acute neuronopathic type Gaucher Oculocutaneous albinism minimal

dominant Corrected transposition disease

pigment type Microcephaly deafness syndrome

Autosomal dominant compelling helio Atrio-ventricular and ventriculo- Gaucher disease acute

minimal pigment type

Syndrome of microtia and aortic arch

ophthalmic outburst syndrome arterial double discordia neuronopathic type

Oculocutaneous albinism


Sneezing from light exposure Double fingernail of fifth finger Gaucher disease infantile cerebral minimal pigment type Albinism Microtia aortic arch syndrome

Isotretinoin embryopathy like

ACHOO syndrome Double outlet right ventricle Gaucher disease type 2 Oculocutaneous albinism type 1A

tyrosinase negative


Peroutka sneeze DORV GD 2

Oculocutaneous albinism Isotretinoin teratogen syndrome

Double tachycardia induced by Infantile convulsions and

Syndrome of opticoacoustic nerve

Photic sneeze reflex


choreoathetosis Albinism 1

atrophy with dementia

autosomal dominant disorder

Opticoacustic nerve atrophy with

affecting connective tissue Pleiotropic Double tooth Infantile digital fibromatosis

Asymptomatic nodular proliferation

Oculocutaneous albinism type 1 dementia

of fibrous tissue on the dorsal and Oculocutaneous albinism

and dementia Nerve deafness optic

Storm syndrome Fused mandibular incisors

Double upper lip

lateral aspects of the fingers or toes tyrosinase negative

nerve atrophy

Pleiotropic autosomal dominant blepharochalasis and

Oculocutaneous albinism

disorder affecting connective tissue enlargement of the thyroid Infantile dysphagia

tyrosinase positive Jensen syndrome

autosomal dominant Exsudative

Infantile form of phytanic acid

Nerve deafness optic nerve atrophy

retinopathy familial Ascher syndrome

blepharochalasis and

storage disease Albinism oculocutaneous type 2 and dementia

autosomal dominant form Lamellar enlargement of the thyroid

Syndrome of pseudomyxoma


Autosomal-dominant lamellar

Double upper lip IRD Albinoidism


ichthyosis Ascher's Syndrome Infantile Refsum disease Albinism 2 Pseudomyxoma peritonei

Ichthyosiform erythroderma

Double uterus-hemivagina-

Syndrome of tetraamelia with

nonbullous dominant form

renal agenesis infantile form Refsum disease ty-pos OCA

pulmonary hypoplasia

Dowling-Degos-Kitamura Infantile multisystem inflammatory

Absence of upper and lower limbs

Lamellar ichthyosis dominant disease

disease Oculocutaneous albinism type 2 with pulmonary hypoplasia

nonbullous dominant form

Dowling-Meara Epidermolysis


Tetra-amelia with pulmonary

Ichthyosiform erythroderma

bullosa herpetiformis

Dowling-Meara type

Infantile myofibromatosis

oculocutaneous albinism


dominant Lamellar ichthyosis Epidermolysis bullosa simplex infantile Neuroaxonal dystrophy oculocutaneous type 2 Albinism syndromic 1 Microphthalmia

Nonbullous congenital lamellar Epidermolysis bullosa simplex


Dowling-Meara type INAD

Infantile progressive spinal muscular

oculocutaneous type 3 Albinism MAA (formerly)

autosomal dominant form

Doxorubicin induced

atrophy with ophthalmoplegia and

Microphthalmia or anophthalmos

Microcephaly with chorioretinopathy cardiomyopathy

pyramidal symptoms Albinism oculocutaneous type 3 with associated anomalies (formerly)

autosomal dominant Hypocalcemia DPB infantile severe Myopia Oculocutaneous albinism type 3 Lenz dysplasia

autosomal dominant Iris hypoplasia

Infantile sialic acid storage disorder

with early onset glaucoma Diffuse panbronchiolitis (ISSD) Albinism 3 MCOPS1

Iridogoniodysgenesis syndrome Panbronchiolitis diffuse Sialic acid storage disease Oculocutaneous tyrosinemia Lenz microphthalmia syndrome

D-plus hemolytic uremic

Oculodentodigital dysplasia

Iridogoniodysgenesis type 2

syndrome (D+HUS) Salla disease

dominant syndromic 7 Microphthalmia

Oculodentodigital dysplasia Microphthalmia dermal aplasia and


Iris hypoplasia with early onset

DR syndrome Free sialic acid storage disease recessive


glaucoma autosomal dominant Duane-radial ray syndrome Finnish type Sialuria Oculo-dento-digital syndrome MCOPS7

N-acetylneuraminic acid (NANA) Oculodentoosseous dysplasia

IGDS Acrorenoocular syndrome storage disease (NSD)

dominant MLS

Duane anomaly with radial

Oculodentoosseous dysplasia Microphthalmia with linear skin

dominant type Iridogoniodysgenesis abnormalities and deafness Sialuria Finnish type



dermal aplasia and sclerocornea

IRID2 Okihiro syndrome Infantile spasms ODOD recessive


autosomal dominant KID syndrome Dravet syndrome

Severe myoclonic epilepsy of

Infantile spasms broad thumbs Oculoectodermal syndrome Syngnathia cleft palate

KID syndrome

infancy Infantile spinal muscular atrophy Toriello-Lacassie-Droste syndrome Syngnathia multiple anomalies

autosomal dominant Keratitis-

oculogastrointestinal Muscular

ichthyosis-deafness syndrome DRTA ISMA

dystrophy Synostoses

Ichthyosis and Deafness (KID)

Infantile striato thalamic

Syndrome Keratitis distal Renal tubular acidosis degeneration Oculomelic amyoplasia

Arthrogryposis with oculomotor


Keratitis Ichthyosis and Deafness

infantile type Polycystic kidney limitation and electroretinal

(KID) Syndrome dRTA7


Infantile xanthomatous

abnormalities Synostosis microcephaly scoliosis

KID syndrome autosomal dominant Drug induced dyskinesia cardiomyopathy oculomotor apraxia Tsukuhara syndrome


Drugs with membrane-

Synostosis of talus and calcaneus

syndrome autosomal dominant

Autosomal dominant myopathy with

congenital joint contractures

ophthalmoplegia and rimmed

stabilizing effect Oncocytic cardiomyopathy Oculo-osteo-cutaneous syndrome short stature


autosomal dominant Inclusion body

Drummond syndrome Focal lipid cardiomyopathy Oculo-oto-facial dysplasia Synovial cancer


ophthalmoplegia and rimmed

vacuoles Autosomal dominant

indicanuria infantile histiocytoid Cardiomyopathy Oculo-palato-cerebral dwarfism Synovial osteochondromatosis

myopathy with congenital joint

Foamy myocardial transformation of

contractures Blue Diaper syndrome

infancy Oculo-palato-cerebral syndrome

oculopharyngeal Muscular

Synovial sarcoma

IBM3 Drusen dominant

Dry skin photophobia

Infarct of the spleen

dystrophy Synovialosarcoma

hyperkeratosis abnormal

Muscular dystrophy

Inclusion body myopathy 3

fingernails Splenic infarcts

oculopharyngeal Synovitis

Autosomal dominant nonnuclear Keratodermia palmoplantar Infection disseminated by

Synovitis acne pustulosis

polymorphic congenital cataract periorificial

cytomegalovirus OPMD

hyperostosis osteitis

photophobia hyperkeratosis Infection due to Opisthorchis

Cataract polymorphic congenital abnormal fingernails Dry skin (felineus)(viverrini) ODD SAPHO

Palmoplantar and perioroficial

synovitis and short fourth

keratoderma with corneal

metacarpals Talo-patello-scaphoid

polymorphic congenital Cataract

Cataract congenital dominant non

epithelial dysplasia Infection due to cat liver fluke Oppositional defiant disorder osteolysis

nuclear DSAP Opisthorchiasis O'Doherty syndrome SYNS2

autosomal dominant nonsyndromic disseminated superficial actinic Infection with Mycobacterium Cutaneous albinism Multiple synostoses syndrome 2


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