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


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


chronic neutropenia and mental

retardation syndrome

Onychotrichodysplasia FTC Megalodactyly of the foot Pulmonary arterio-veinous fistula Winter Harding Hyde syndrome

Chronic neutrophilic leukemia follicular Thyroid cancer Macrodactyly of the foot Pulmonary artery WHH syndrome

Chronic pain requiring intraspinal

Pachygyria joint contractures facial

analgesia Thyroid carcinoma follicular Megalodactylism of the foot Pulmonary artery agenesis

Pulmonary artery coming from the


Chronic polyradiculoneuritis follicular Thyroid carcinoma

Fuchs atrophia gyrata

Megarbane syndrome

aorta Winter-Shortland-Temple syndrome

chronic spasmodic Dysphonia chorioideae et retinae Megarbane-Loiselet syndrome Pulmonary artery familial dilatation

Pulmonary atresia with ventricular

Wisconsin syndrome

Chronic T-cell leukemia Fuchs gyrate atrophy

Fuchs gyrate atrophy of the

Branchiogenic deafness syndrome septal defect Wiskott-Aldrich syndrome

T-cell chronic Leukemia

choroid and retina Mehes syndrome Pulmonary branch defects WAS;1

Chronic urticaria with

with deafness Keratoderma

macroglobulinemia Fuchs' dystrophy Mehta Lewis Patton syndrome Pulmonary branches stenosis palmoplantar

Hereditary palmoplantar

Chudley syndrome

short stature and hypogonadotropic

FECD1 Mehta-Lewis-Patton syndrome Pulmonary fibrosis /granuloma keratoderma with deafness (subtype)

hypogonadism Multicore myopathy Fuchs' endothelial 1 Corneal

Keratoderma palmoplantar with

with mental retardation

dystrophy Meier Blumberg Imahorn syndrome

Idiopathic hypercalciuria with

Pulmonary haemosiderosis deafness

Chudley Rozdilsky syndrome

Multicore myopathy with mental

Early-onset FECD

bilateral macular colobomata Pulmonary hemosiderosis Keratoderma palmoplantar deafness

retardation short stature and

Hemosiderosis pulmonary with Palmoplantar keratoderma and

hypogonadotropic hypogonadism Dystrophia epithelialis corneae Meier Rotschild syndrome

deficiency of gamma-a globulin sensorineural deafness

Fuchs' endothelial early-onset

pulmonary with deficiency of Diffuse palmoplantar keratoderma

Chudley-Mccullough syndrome

Deafness sensorineural with partial

Corneal dystrophy Meige syndrome

gamma-a globulin Hemosiderosis with deafness (subtype)

agenesis of the corpus callosum and

Focal palmoplantar keratoderma with

arachnoid cysts Fuchs' endothelial dystrophy Meigel disease Alveolar hypoventilation syndrome sensorineural deafness (subtype)

sensorineural with partial agenesis of

with lymphangiectasia and postaxial

the corpus callosum and arachnoid early-onset Fuchs' endothelial

Idiopathic pulmonary

polydactyly Persistence of mullerian

cysts Deafness

Deafness bilateral sensorineural and

corneal dystrophy Meinecke pepper syndrome



hydrocephalus due to foramen of Fuchs' endothelial corneal

monro obstruction

bilateral sensorineural and

dystrophy early-onset Meinecke syndrome pulmonary hypoplasia Urioste Martinez-Frias syndrome

hydrocephalus due to foramen of Corneal dystrophy Fuchs'

pulmonary hypoplasia autosomal

monro obstruction Deafness

endothelial early-onset Melanoma astrocytoma syndrome recessive Urioste syndrome

Persistence of mullerian derivatives

Familial proneness to melanoma Pulmonary hypoplasia familial with lymphangiectasia and postaxial

Cicatricial pemphigoid ocular Fucosidosis type 1

and nervous system tumors



Cutaneous malignant melanoma

with or without cell oxyphilia

Pemphigoid ocular cicatricial Infantile fucosidosis

and cerebral astrocytoma Pulmonary lymphangiectasia Nonmedullary thyroid carcinoma

Fukuda Miyanomae Nakata Melanoma and neural system tumor

Ocular cicatricial pemphigoid


syndrome Pulmonary pseudolymphoma TCO 1

Pulmonary nodular lymphoid with stretchable skin and syndactyly


Chronic inflammatory demyelinating

Fumarase deficiency Melanoma of soft part


Eyebrows duplication of

polyneuropathy Fumaric aciduria Clear cell sarcoma Pulmonary sarcoidosis Wittwer syndrome

Clear cell sarcoma of the tendons

Wittwer tpe X-linked mental

Ciguatera fish poisoning Fumaricaciduria

and aponeuroses Pulmonary sequestration

retardation syndrome

X-linked mental retardation

CILD2 fumhd

A severe variant of pityriasis

Melanoma of the choroid Pulmonary supravalvular stenosis syndrome Wittwer tpe

lichenoides et varioliformis

X-linked mental retardation type

2 Primary ciliary dyskinesia

acuta (PLEVA)

Febrile Ulceronecrotic Mucha-

Melanoma of the ciliary body pulmonary Tuberculosis



Habermann disease

Ulceronecrotic Mucha-

Melanoma-pancreatic cancer PTB WND

3 Primary ciliary dyskinesia

Habermann disease

Functioning pancreatic

Melhem Fahl syndrome Pulmonary Kochs Wilson disease

Ciliary dysentery

endocrine tumor Fifteen dorsal vertebrae and rib pairs PMT+ Hepatolenticular degeneration

Balantidiosis Fuqua Berkovitz syndrome Meliodosis Pulmonary valve agenesis HLD

ciliary dysfunction Fuqua-Berkovitz syndrome Melkersson rosenthal syndrome Pulmonary valves agenesis WD

ciliary dyskinesia Ambiguous genitalia Melnick-Needles osteodysplasty

Osteodysplasty of Melnick and

Pulmonary veins stenosis Wohlwill-Andrade syndrome

Secondary ciliary dyskinesia normal Mullerian development Needles Pulmonary venoocclusive disease Hereditary neuropathic amyloidosis

Pulmonary venous connection Familial Portuguese polyneuritic

Ciliary dyskinesia-bronchiectasis Furlong syndrome Melnick-Needles syndrome



type 2 Marfanoid disorder with

Pulmonaryatresia intact ventricular

ciliary dystrophy


Marfanoid disorder with


septum Neuropathic amyloid syndrome

trichilemmal cysts

craniosynostosis type 2 Melorheostosis of Leri Pulmonic stenosis Wohlwill-Corino Andrade syndrome

Furukawa takagi nakao Membranoproliferative

Cilliers Beighton syndrome


glomerulonephritis Valvular pulmonic stenosis Amyloid neuropathy type 1

Circumscribed cutaneous aplasia of


Pulmonic stenosis with cafe-au-lait

the vertex Furuncular myiasis


spots Wolff type Mental retardation

Circumscribed disseminated

Cafe-au-lait spots with pulmonic

keratosis Jadassohn Lew type

Cirrhosis associated cardiac

Furunculous myiasis MEN

stenosis Wolff mental retardation syndrome

dysfunction Furunculoid myiasis Multiple endocrine neoplasia Watson syndrome Wolff zimmermann syndrome

Severe achondroplasia

cirrhosis pulmonary emphysema and

Fusospirillosis Menl Pulp stones Mental retardation wolff type

cerebral calcification Berry aneurysm

Cerebral aneurysm-cirrhosis

Vincent's infection MEN 2A Coronal dentin dysplasia Wolffian adenoma

syndrome Acute membranous gingivitis PTC syndrome Shields type 2 Dentin dyspalsia Wolffian adnexal tumor

Multiple endocrine neoplasia type

Female adnexal tumor of probable

Cirrhotic cardiomyopathy Phagedenic gingivitis


Wolffian origin

Citrulline transport defect Fusospirillary gingivitis MEN-2A syndrome

Pheochromocytoma and amyloid

producing medullary thyroid

Pulpal dysplasia FATPWO

Citrullinemia 2 Vincent's stomatitis

carcinoma Dentin dyspalsia Shields type 2 Wolffian tumor

Acute necrotizing ulcerative

Punctate acrokeratoderma freckle

Citrin deficiency

gingivitis Sipple syndrome

like pigmentation Wolf-Hirschorn syndrome

Citrullinemia type 1 Vincent's gingivitis Mende Syndrome Punctate inner choroidopathy Wolf syndrome

Classic citrullinemia ANUG WS1 Punctate keratoderma and spastic Chromosome 4p syndrome


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