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


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

Blepharo naso facial syndrome Van

maldergem type Elejalde syndrome Agonadism mosaic Tetrasomy 12p Congenital lipoatrophic diabetes


Berardinelli-seip congenital


neurocutaneous syndrome Kennerknecht Vogel syndrome Isochromosome 12p syndrome lipodystrophy type 2


Agonadism mental retardation

double lip

melanolysosomal disease delayed bone age Pallister W syndrome Tourette syndrome


mental retardation and pugilistic

Blepharo-facio-skeletal syndrome melanolysosomal syndrome Kenny-Caffey syndrome

facies Median cleft upper lip Gilles de la Tourette syndrome


Median cleft upper lip mental

syndrome Elephant man in context of NF Keratitis herpetic

retardation and pugilistic facies Townes-Brocks syndrome

Blepharophimosis Elephantitis Ocular herpes W syndrome REAR syndrome

Deafness sensorineural with

imperforate anus and hypoplastic

epicanthus inversus Lymphatic filariasis Herpetic keratitis Pallister-Hall syndrome


Blepharophimosis nasal groove Elevated dark spiny papules on

growth retardation

the face or trunk Keratitis sicca PHS Renal-ear-anal-radial syndrome

Blepharophimosis ptosis esotropia

sensorineural with imperforate anus

syndactyly short Trichostasis spinulosa KCS Pallister Hall syndrome

and hypoplastic thumbs Deafness

Blepharophimosis syndrome ohdo dark spiny papules on the face


or trunk Elevated Dry eye syndrome Palmer pagon syndrome

Palmitoyl-proteine thioesterase

Toxic encephalopathy

Ohdo madokoro sonoda syndrome Elliptocytosis Keratoconjunctivitis sicca

deficiency Neurotoxicity syndromes

Blepharophimosis syndrome type 1 Spherocytosis Keratoconus CLN5 Toxoplasma embryopathy

BPES type 1 Ellis Van Creveld syndrome Noninflammatory corneal thinning CLN2 TPMT deficiency

Blepharophimosis ptosis epicanthus

keratoconus febrile seizures and

inversus with ovarian failure EVC

sinoatrial block Mental retardation Ceroid lipofuscinosis Thiopurines poor metabolism of

ptosis epicanthus inversus with

Thiopurine S methyltranferase

ovarian failure Blepharophimosis Mesodermic dysplasia Keratoconus posticus circumscriptus CLN1


ptosis epicanthus inversus type 1

Palmoplantar keratoderma

Blepharophimosis Ellis Yale Winter syndrome

Microcephaly congenital heart

disease lung segmentation


punctate poor metabolism of Thiopurines

defects and unilateral renal

Palmoplantar porokeratosis of Thiopurine methyltransferase

BPES with premature ovarian failure agenesis

congenital heart disease lung

segmentation defects and

dental abnormalities- hypogonadism Mantoux


Blepharophimosis ptosis epicanthus unilateral renal agenesis

Palpebral coloboma lipoma

inversus type 1

Microcephaly Epithelioma


Nasopalpebral lipoma coloboma

Tracheal agenesis

Blepharoptosis aortic anomaly Emanuel syndrome Keratoderma palmoplantar

syndrome Congenital tracheal agenesis

Blepharoptosis cleft palate

Supernumerary der(22) Keratoderma palmoplantar punctate

ectrodactyly dental anomalies syndrome


type 2 Pancreas agenesis Congenital tracheal stenosis


Rhabdomyosarcoma Type 2 punctate PPK

punctate type 2 Keratoderma

Pancreas annular Tracheobronchomalacia

BL Embryonal sarcoma

palmoplantar Annular pancreas Tracheobronchomegaly

Embryonary disorganization Porokeratosis plantaris palmaris et




disseminata Pancreatic adenoma


Keratoderma palmoplantar striate Pancreatic and cerebellar

Blethen Wenick Hawkins syndrome

blindness deafness and metabolic


form 3

agenesis TBOCP

abnormalities Primary testicular Essential mixed

Tracheoesophageal fistula

insufficiency with normal virilization cryoglobulinemia PPKS3 Pancreatic carcinoma


hypogonadism and metabolic

Tracheoesophageal fistula with or

anomalies Cardiomyopathy

Primary testicular insufficiency with

normal virilization blindness deafness

Emerinopathy Keratosis palmoplantaris striata 3 Pancreatic cancer

without esophageal atresia

and metabolic abnormalities Emery Nelson syndrome Striate palmoplantar keratoderma 3 Pancreatic endocrine tumour Tracheoesophageal fistula

Cardiomyopathy hypogonadism and

Keratoderma palmoplantaris

Esophageal atresia with or without

metabolic anomalies Empty scrotum


congenital familial in plaques

Pancreatic hypoplasia

tracheoesophageal fistula

Weinstein Kliman Scully syndrome Congenital absence of testes Erythrokeratodermia figurata Yorifuji-Okuno syndrome TEF

Keratosis palmoplantaris

Pancreatic insufficiency and bone

Bloch-Sulzberger syndrome TRS

transgrediens et progrediens marrow dysfunction Tracheopathia osteoplastica

(formerly) IP2 Vanishing testes Greither disease SDS Tracheobronchopathia osteoplastica

type 2 (formerly) Incontinentia XY gonadal dysgenesis

Lipomatosis of pancreas

Cartilaginous or bony projections into


familial male-lethal type Incontinentia

syndrome Erythrokeratodermia variabilis congenital

the tracheobronchial lumen

pigmenti Testicular regression syndrome EKV Shwachman-Bodian syndrome Tracheophageal fistula hypospadias

Erythrokeratodermia variabilis with congenital Lipomatosis of

Tranebjaerg type seizures and

Incontinentia pigmenti Absence of testes

erythema gyratum repens


psoriasis Mental retardation X-linked

Erythrokeratodermia figurata Pancreatic lipomatosis and X-linked mental retardation

IP2 (formerly) Anorchia

congenital familial in plaques duodenal atresia

associated with psoriasis

Mental retardation X-linked

Incontinentia pigmenti familial male-

Keratoderma palmoplantaris Pancreatic lipomatosis duodenal Tranebjaerg type seizures and

lethal type Empty sella syndrome

transgrediens et progrediens stenosis


Incontinentia pigmenti type 2

Keratosis extremitatum hereditaria


Blomstrand lethal

Secondary ESS (subtype) progrediens Pancreatic polypeptidoma Tranebjaerg Svejgaard syndrome

osteochondrodysplasia Primary ESS (subtype) Keratosis focal palmoplantar gingival Pancreatic VIPoma Tranebjaerg-Svejgaard syndrome

Focal palmoplantar and oral mucosa Vasoactive intestinal peptide-

BOCD Empty sella turcica


producing tumor Transcobalamin 2 deficiency

Lethal congenital dwarfism with

Keratosis follicularis dwarfism Vasoactive intestinal peptide (VIP)

accelerated skeletal maturation ESS

cerebral atrophy

keratosis follicularis spinulosa

tumor Transcobalamin II deficiency

blomstrand type Chondrodysplasia EMS

Severe muscle pain and

decalvans Ichthyosis Pancreatoblastoma Transient Acantholytic Dermatosis

Blomstrand osteochondrodysplasia abnormally high eosinophils Keratosis palmaris et plantaris Panner disease

Osteochondrosis of the capital

Grover's disease

Blomstrand syndrome L-tryptophan induced EMS clinodactyly

humerus transient Erythroblastopenia

Keratosis palmoplantar

Aseptic necrosis of the capital Transient erythroblastopenia of

Bloom syndrome Eosinophilia-myalgia syndrome periodontopathy



Enamel hypoplasia cataract Keratosis palmoplantaris with

Familial transient erythroblastopenia

Bloom-Torre-Machacek syndrome hydrocephaly

periodontopathia Panniculitis

Winkelmann's cytophagic

of childhood

Bobble head doll syndrome Encephalitis Papillon Lefevre Syndrome

Keratosis palmoplantaris

panniculitis Erythroblastopenia transient

Bobble-head doll syndrome Encephalitis lethargica

adenocarcinoma of the colon Panostotic fibrous dysplasia Transient neonatal arthrogryposis

Encephalo cranio cutaneous Keratosis palmoplantaris

transitional cell cancer Renal pelvis

Body cavity-based lymphoma lipomatosis

nummularis Papillary cystadenocarcinoma and ureter


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