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


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

Acute myeloblastic leukemia type 1 Constrictive bronchiolitis

Continuous muscle fiber

Hemifacial atrophy agenesis of the

caudate nucleus Mucopolysaccharidosis type 3 C MPS 3 A

Acute myeloblastic leukemia type 2 activity hereditary Hemifacial atrophy progressive MPS IIIC Santos Mateus Leal syndrome

Continuous muscle fiber

Hirschsprung disease deafness and

Acute myeloblastic leukemia type 3 activity syndrome Romberg hemi-facial atrophy MPS 7


Mucopolysaccharidosis type 7 Sly deafness and polydactyly

Acute myeloblastic leukemia type 4 Quantal squander syndrome Parry-Romberg syndrome


Hirschsprung disease

Acute myeloblastic leukemia type 5 isaacs syndrome Progressive hemifacial atrophy MPS IVB Santos-Mateus-Leal syndrome

Acute myeloblastic leukemia type 6 Neuromyotonia Hemifacial hyperplasia strabismus Mucopolysaccharidosis type IV-B Sarcocystosis

Acute myeloblastic leukemia type 7 Isaac's-Merten's syndrome Hemifacial myohyperplasia MRGH Sarcosporidiosis

Acute myeloblastic leukemia with

Hypertrophy and asymmetry of the

maturation CMFAS

facial muscles MRK anomaly Sarcoma botryoides

Continuous spike-wave during

Congenital absence of uterus and


slow sleep syndrome Hemihypertrophy in context of NF vagina Sarcoma of the uterus

Acute myeloblastic leukemia without Contractures ectodermal Hemihypertrophy intestinal web Mayer Rokitansky Kuster Hauser


dysplasia cleft lip palate corneal opacity


Von Mayer Rokitansky Kuster

Uterine sarcoma

Acute myelocytic leukemia

Acute myeloid leukaemia and

myelodysplastic syndromes related

Contractures of fingers and jaw Hemimegalencephaly

anomaly Sarcomatous glioblastoma

to topoisomerase type II inhibitor

Acute myeloid leukaemia and

myelodysplastic syndromes related

distal type 2E Arthrogryposis Hemiplegic migraine RKH syndrome Sarcosin dehydrogenase complex

to alkylating agent Conversion disorder Hemispinal cord syndrome MRKH anomaly Sarcosinemia

Acute myeloid leukaemia and

Rokitansky Kuster Hauser

myelodysplastic syndromes Cooley anaemia Hemiparaplegic syndrome

syndrome SAR deficiency

Acute myeloid leukaemia with Copper deficiency familial

Uterus bipartitus solidus

multilineage dysplasia

benign Hemicord syndrome

rudimentarius cum vagina solida SAR

Sarcosin dehydrogenase complex

Acute myeloid leukemia FAB-M6 Coproporphyria Hereditary Brown-Sequard syndrome MRX1

deficiency of

Acute erythroleukemia - M6a subtype CPO deficiency hemivertebrae MRX21 SARDH deficiency

Acute erythroleukemia - M6b subtype CPRO deficiency urogenital-intestinal dysgenesis X-linked 21 Mental retardation Hypersarcosinemia

X-linked nonspecific type 1 Mental deficiency of Sarcosin

Acute erythroleukemia Porphyria hepatica II Aphalangy


dehydrogenase complex

Acute myelomonocytic leukaemia Hereditary Coproporphyria Johnson-Munson syndrome Atkin Flaitz Patil Smith syndrome Satoyoshi syndrome

Porphyria Hepatica

Hemochromatosis autosomal

Acute non lymphoblastic leukemia Coproporphyria

dominant Mental retardation X-linked 21 Komuragaeri Disease

Acute non lymphoblastic leukemia

Hemochromatosis due to defect in Mental retardation X-linked

(generic term) Coproporphyria


nonspecific type 1 Saul wilkes stevenson syndrome

Coproporphyria Porphyria

Mental retardation X-linked Atkin

Acute nonlymphocytic leukemia Hepatica type 4 Hemochromatosis

autosomal dominant

type Say barber hobbs syndrome

Acute myeloid leukemia HCP

Hemochromatosis MRX Say barber miller syndrome

Hereditary coproporphyria

X-linked nonspecific Mental


porphyria HFE4

retardation Say Carpenter syndrome

Coproporphyrinogen oxidase Hemochromatosis due to defect in Atkin type Mental retardation X- Metaphyseal dysplasia hypertelorism

Acute myelogenous leukemia deficiency

transferrin receptor 2



ANNL CPX deficiency type 3 Hemochromatosis MRXS7 Say meyer syndrome

short stature and retarded

CoQ-responsive OXPHOS

Mental retardation X-linked psychomotor development


deficiency HFE3

syndromic 7


Ahmad X-linked Mental retardation short stature and developmental

Acute panmyelosis with myelofibrosis Cor biloculare Hemoglobin E disease


delay Trigonocephaly

Trigonocephaly short stature and

Acute myelofibrosis CORD Hemoglobin S Disease MRXS9

developmental delay

Acute myelodysplasia with

Trigonocephaly short stature and

myelofibrosis CORD7 Sickle cell disease

Sickling disorder due to hemoglobin


retarded psychomotor development

Acute myelosclerosis cone-rod dystrophy

S Multiple system atrophy Say syndrome

Acute peripheral arterial occlusion CORD6 HbS disease MSBD Cleft palate large ears small head

Acute placoid pigment epitheliopathy corectopia Sickle cell disorders Mixed sclerosing bone dystrophy SBCAD deficiency

APMPPE macular hypoplasia Sickle cell anemia Msbd syndrome 2-methylbutyric aciduria

Developmental delay due to 2-

Acute posterior multifocal placoid Cormier Rustin Munnich

Dystrophy osseous sclerosing methylbutyryl-CoA dehydrogenase

pigment epitheliopathy

syndrome Hemoglobin SC disease



Cormier rustin munnich

Short/branched-chain acyl-coA


syndrome de Hemoglobin-C disease Mseleni joint disease

dehydrogenase deficiency

APMPP Cornea plana Hb C disease Brachydactylous dwarfism SC5D deficiency

Acute posterior multifocal placoid Corneal anesthesia deafness

Deficiency of 3-beta-hydroxysteroid-


mental retardation Hemoglobin C disease MSMD


acute posterior multifocal placoid Corneal crystals myopathy

Mycobacterial disease Mendelian 3-beta-hydroxysteroid-delta(5)-


neuropathy Hemoglobinopathy

susceptibility to

disseminated Atypical

desaturase deficiency

Acute promyelocytic leukemia

Acute sensorineural hearing loss by

acute acoustic trauma or sudden

Corneal dystrophy Hemoglobinuria

mycobacterial infection Lathosterolosis

deafness or surgery induced acoustic

Atypical mycobacterial infection

trauma Corneal dystrophy epithelial hemoglobinuria group

familial disseminated

Atypical mycobacterial infection


Acyl coa oxydase deficiency Corneal dermoid Hemolytic anaemia

disseminated Spinocerebellar ataxia 22


Mendelian susceptibility to

Pseudoadrenoleukodystrophy syndrome Haemolytic anaemia

Mycobacterial disease SCA22

Corneal dystrophy granular

familial disseminated Atypical

Acylcholine acylhydrolase deficiency type Water-West syndrome

mycobacterial infection Spinocerebellar ataxia 19

Groenouw type I corneal Hemolytic anaemia due to adenylate

Butyrylcholinesterase deficiency dystrophy

kinase deficiency familial Atypical mycobacteriosis SCA23

Corneal dystrophy punctate or Hemolytic anemia due to G6PD

CHE1 deficiency


Corneal dystrophy ichthyosis

deficiency MSUD type 1A Spinocerebellar ataxia 23

microcephaly mental

Glucose 6 phosphate

BCHE deficiency


dehydrogenase deficiency type 1A Maple syrup urine disease SCA27

Corneal dystrophy lattice type

Cerebellar ataxia autosomal

Pseudocholinesterase E1 deficiency 1 G6PD def. type 1A MSUD

dominant FGF14-related

lattice type 1 Corneal

autosomal dominant FGF14-related

Acyl-CoA dehydrogenase

dystrophy G6PD deficiency MSUD type 2

Cerebellar ataxia

Acyl-CoA dehydrogenase medium Lattice corneal dystrophy type Hemolytic anemia lethal genital

chain deficiency of


anomalies type 2 MSUD Spinocerebellar ataxia 27

ACADM deficiency Corneal dystrophy pigmentary Hemophagocytic type 2 Maple syrup urine disease SCA28


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