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2 Hydroxglutaric Aciduria see Metabolic Diseases
4 Hydroxybutyric Aciduria see Metabolic Diseases
2-Methylacetoacetyl-CoA Thiolase Deficiency see Metabolic Diseases
3-Hydroxy Acyl CoA Dehydrogenase Deficiency see Metabolic Diseases
3-Hydroxy-Methylglutaril CoA Lyase Deficiency see Organic Acidaemias
3-Methylglutaconic Aciduria see Metabolic Diseases
4p-Syndrome see Wolf-Hirschhorn Syndrome
5 Alpha Reductase Deficiency see Metabolic Diseases
5-Oxoprolinuria see Metabolic Diseases
21 Hydroxylase Deficiency see Congenital Adrenal Hyperplasia

aAA see Acquired Aplastic Anaemia
ADA see Primary Immune Deficiencies
ADD see Attention Deficit Hyperactivity Disorder
ADHD see Attention Deficit Hyperactivity Disorder
ADL see Adrenoleukodystrophy
AIDS see HIV Infection and AIDS
AMC see Arthrogryposis
APRT see Purine & Pyrimidine Metabolic Diseases
ASA see Purine & Pyrimidine Metabolic Diseases
ASD see Heart Defects
ATR-X see Alpha Thalassaemia/Mental Retardation on the X Chromosome
Abdominal Exstrophies
Abetalipoproteinaemia see Metabolic Diseases
Achondroplasia see Restricted Growth
Acne
Acne Vulgaris see Acne
Acquired Aplastic Anaemia
Acrodermatitis Enteropathica see Metabolic Diseases
Acrofacial dysostosis see Nager Syndrome
Acute\Chronic Lymphatic Anaemia see Leukaemia and other Allied Blood Disorders
Acute Idiopathic Polyneuritis see Guillain-Barré Syndrome and other Neuropathies
Acute Inflammatory Polyneuropathy see Guillain-Barré Syndrome and other Neuropathies
Adams-Oliver Syndrome
Addison Disease
Adenine phosphoribosyltransferase deficiency see Purine & Pyrimidine Metabolic Diseases
Adenosine Deaminase Deficiency see Primary Immune Deficiencies
Adenylosuccinase deficiency see Purine & Pyrimidine Metabolic Diseases
Adipogenital Retinitis Pigmentosa-Polydactyly see Laurence-Moon-Bardet-Biedl Syndrome
Adrenal Hyperplasia see Congenital Adrenal Hyperplasia Adrenal Hypoplasia see Addison Disease
Adrenoleukodystrophy
Agenesis of the Corpus Callosum/Aicardi Syndrome
Aicardi see Agenesis of the Corpus Callosum/Aicardi Syndrome
Aicardi-Gourtier see Metabolic Diseases
Alagille's Syndrome see Liver Disease
Albinism
Albright Syndrome see Brittle Bone Diseases (Osteogenesis Imperfecta)
Alcaptonuria see Metabolic Diseases
Alexanders Leukodystrophy see Metabolic Diseases
Allergies
Alobar HPE see Holoprosencephaly
Alpers Disease see Metabolic Diseases and see Mitochondrial Cytopathies and Related Disorders
Alpha One Antitrypsin Deficiency see Liver Disease
Alpha Thalassaemia/Mental Retardation on the X Chromosome
Alternating Hemiplegia
Alports Syndrome see Metabolic Diseases
Alstrom's Disease see Metabolic Diseases
Alymphocytosis see Primary Immune Deficiencies
Amyloidosis see Metabolic Diseases
Amyoplasia Congenita see Arthrogryposis
Amyotrophic Lateral Sclerosis see Motor Neurone Disease
Anaphylaxis
Andersen Disease see Glycogen Storage Diseases
Anderson-Fabry Disease
Androgen Insensitivity Syndrome
Androgen Resistance Syndrome see Androgen Insensitivity Syndrome
Anencephaly
Angelman Syndrome
Angiokeratoma corporis diffusum see Anderson-Fabry Disease
Ankylosing Spondylitis
Anomalous Pulmonary Venous Drainage see Heart Defects
Anophthalmia
Anorchia see Congenital Absence of the Testes
Anorchidism see Congenital Absence of the Testes
Anorexia Nervosa see Eating Disorders
Antley Bixler Syndrome see Craniofacial Conditions
Anxiety Disorders
Aortic Stenosis see Heart Defects
Apert Syndrome see Craniofacial Conditions
Aplastic Anaemia see Leukaemia and other Allied Blood Disorders
Arachidonic Acid, Absence of see Metabolic Diseases
Arginase Deficiency see Metabolic Diseases
Argininosuccinic Aciduria see Metabolic Diseases
Arm or Hand Deficiencies see Upper Limb Abnormalities
Aromatic Amino Acid Decarboxylase Deficiency see Metabolic Diseases
Arterial Calcification of Infancy see Metabolic Diseases
Arthritis see Arthritis (Juvenile Idiopathic)
Arthritis (Juvenile Idiopathic)
Arthrochalasis-multiplex congenita see Ehlers-Danlos Syndrome
Arthrogryposis
Arylsulphatase A Deficiency see Metabolic Diseases
Aspartylglycosaminuria see Mucopolysaccharide Diseases and associated diseases
Asperger Syndrome see Autism including Asperger Syndrome
Aspergillosis see Lung Diseases
Asthma
Asymmetry Dwarfism see Silver-Russell Syndrome
Ataxia-Telangiectasia
Athetosis see Cerebral Palsy
Atrial Septal Defect see Heart Defects
Atrioventricular Septal Defect see Heart Defects
Attention Deficit Disorder see Attention Deficit Hyperactivity Disorder
Attention Deficit Hyperactivity Disorder
Aural Atresia see Treacher-Collins Syndrome
Auriculovertebral Dysplasia see Goldenhar Syndrome
Autism including Asperger Syndrome

BBS see Laurence-Moon-Bardet-Biedl Syndrome
BPD see Broncho Pulmonary Dysplasia
Bard et-Biedl Syndrome see Laurence-Moon-Bardet-Biedl Syndrome
Bartters Syndrome see Metabolic Diseases
Basal Cell Naevus Syndrome see Gorlin Syndrome
Batten's Disease see Metabolic Diseases
Becker Dystrophy see Muscular Dystrophy and allied disorders
Beckwith-Wiedemann Syndrome
Berardinelli Lipodystrophy Syndrome see Metabolic Diseases
Best's Disease see Retinitis Pigmentosa
Beta Ketothiolase Deficiency see Metabolic Diseases
Beta-Methylcrotonylglycinuria see Organic Acidaemias
Biliary Atresia see Liver Disease
Biliary Hypoplasia see Liver Disease
Biotin Deficiency see Metabolic Diseases
Blackfan Diamond Syndrome see Diamond Blackfan Syndrome
Bladder Exstrophy
Blepharospasm see Dystonia
Blindness see Visual Impairment
Bonnevie-Ullrich Syndrome see Turner Syndrome
Brachial Plexus Paralysis see Erb's Palsy
Brachman de Lange Syndrome see Cornelia De Lange Syndrome
Brain Tumours
Brissaud II see Tourette Syndrome
Brittle Bone Diseases (Osteogenesis Imperfecta)
Broad Thumb-Great Toe Syndrome see Rubinstein Taybi Syndrome
Bronchiectasis see Lung Diseases
Broncho Pulmonary Dysplasia
Bruton's Disease see Primary Immune Deficiencies
Bulbar Palsy see Tracheo-Oesophageal Fistula and/or Oesophageal Atresia
Bulbar Poliomyelitis see Poliomyelitis
Bulimia nervosa see Eating Disorders
Bullous Ichthyosiform Erythroderma see Ichthyosis
Bullseye Dystrophy see Retinitis Pigmentosa
Buphthalmia see Glaucoma
Butterfly-shaped Dystrophy see Retinitis Pigmentosa

C1 Esterase Deficiency see Metabolic Diseases
CAH see Congenital Adrenal Hyperplasia
CAIS see Androgen Insensitivity Syndrome
CD40 Ligand Deficiency see Primary Immune Deficiencies
CDH see Congenital Dislocation of the Hip
CGD see Chronic Granulomatous Disorder
CHARGE Association
CMT see Charcot-Marie-Tooth Disease
CMV see Cytomegalovirus
COAD see Lung Diseases
COX see Metabolic Diseases and see Mitochondrial Cytopathies and Related Disorders
CPS see Metabolic Diseases
CPT see Purine & Pyrimidine Metabolic Diseases
CVI see Primary Immune Deficiencies
CDP-choline phosphotrasferase deficiency see Purine & Pyrimidine Metabolic Diseases
Calve-Perthes Disease see Perthes Disease
Canavan Disease see Metabolic Diseases
Cancers and Leukaemias
Carbamyl Phosphate Synthetase Deficiency see Metabolic Diseases
Carbohydrate Deficient Glycoprotein Syndrome see Metabolic Diseases
Cardiomyopathies
Carnitine Deficiency see Metabolic Diseases
Carnitine Palmitoyltransferase Deficiency see Metabolic Diseases
Carpenter Syndrome see Craniofacial Conditions
Cat Eye Syndrome see Coloboma
Cataplexy see Narcolepsy
Cataracts see Visual Impairment
Central Areolar Choroidal Dystrophy see Retinitis Pigmentosa
Central Core Disease see Muscular Dystrophy and allied disorders
Central Hypoventilation Syndrome see Congenital Central Hypoventilation Syndrome
Cerebellar Ataxia
Cerebellar Atrophy see Friedreich's Ataxia and all inherited ataxias
Cerebral Palsy
Cerebro-Oculo-Muscular Dystrophy see Lissencephaly
Cerebroside Lipidosis see Gauchers Disease
Cerebrotendinous Xanthomatosis see Metabolic Diseases
Cerebrovascular Accident see Stroke
Charcot-Marie-Tooth Disease
Chediak Higashi Syndrome see Primary Immune Deficiencies
Chondroectodermal Dysplasia see Ellis-Van Creveld Syndrome
Choroideraemia see Retinitis Pigmentosa
Christmas Disease see Haemophilia, von Willebrand Disease and other coagulation defects
Chromosome 4p- Syndrome see Wolf-Hirschhorn Syndrome
Chromosome 5 short arm deletion see Cri du Chat Syndrome
Chromosome 5p- Syndrome see Cri du Chat Syndrome
Chromosome 13 + Syndrome see Patau Syndrome
Chromosome 18 + Syndrome see Edwards' Syndrome
Chromosome Disorders
Chronic Bronchitis see Lung Diseases
Chronic Degenerative Chorea see Huntington's Disease
Chronic Fatigue Syndrome see Myalgic Encephalomyelitis
Chronic Glomerulonephritis see Kidney Disease
Chronic Granulomatous Disorder
Chronic Idiopathic Polyneuritis see Guillain-Barré Syndrome and other Neuropathies
Chronic Iridocyclitis see Arthritis (Juvenile Idiopathic)
Chronic Mucocutaneous Candidiasis see Primary Immune Deficiencies
Chronic Obstructive Airways Disease see Lung Diseases
Churg-Strauss Syndrome see Guillain-Barré Syndrome and other Neuropathies
Ciliary Dyskinesia see Primary Ciliary Dyskinesia
Citrullinaemia see Metabolic Diseases
Cleft Lip and/or Palate
Cloacal Exstrophy see Bladder Exstrophy
Cloverleaf Skull see Craniofacial Conditions
Clumsy Child Syndrome see Dyspraxia
Coagulation Defects see Haemophilia, von Willebrand Disease and other coagulation defects
Coarctation of the Aorta see Heart Defects
Cobalamin C/G Deficiency see Metabolic Diseases
Coeliac Disease
Cogan's Apraxia see Congenital Ocular Motor Apraxia
Cohen Syndrome
Coloboma
Common Variable Immunodeficiency see Primary Immune Deficiencies
Communication Disorder see Speech and Language Impairment
Complete Androgen Insensitivity Syndrome see Androgen Insensitivity Syndrome
Complex Regional Pain Syndrome see Reflex Sympathetic Dystrophy
Congenital Absence of the Testes
Congenital Adrenal Hyperplasia
Congenital Aplastic Anaemia see Fanconi's Anaemia
Congenital Aregenerative Anaemia see Diamond Blackfan Syndrome
Congenital Asplenia see Primary Immune Deficiencies
Congenital Central Hypoventilation Syndrome
Congenital Dislocation of the Hip
Congenital Fibre Type Disproportion see Muscular Dystrophy and allied disorders
Congenital Heart Abnormality see Heart Defects
Congenital Mitochondrial Myopathy see Mitochondrial Cytopathies and Related Disorders and see Muscular Dystrophy and allied disorders
Congenital Muscular Dystrophy
Congenital Myasthenia see Myasthenia Gravis
Congenital Myopathies see Muscular Dystrophy and allied disorders
Congenital Neutropenia
Congenital Ocular Motor Apraxia
Congenital Pancreatic Insufficiency with neutropenia and Growth Failure see Shwachman Syndrome
Congenital Suprabulbar Paresis see Worster-Drought Syndrome
Conradi-Hünermann Syndrome see Ichthyosis
Cooley's Anaemia see Thalassaemia Major (Beta-thalassaemia)
Coprolalia Generalised Tic see Tourette Syndrome
Cori Disease see Glycogen Storage Diseases
Cortical Blindness see Visual Impairment
Cornelia De Lange Syndrome
Cot Death
Coxa Plana see Perthes Disease
Craniofacial Conditions
Craniostenosis see Craniofacial Conditions
Craniosynostosis see Craniofacial Conditions
Cranium Bifida see Spina Bifida
Creutzfeld-Jakob Disease
Cri du Chat Syndrome
Crigler Najjar Syndrome see Metabolic Diseases
Crohn's Disease and Ulcerative Colitis
Crouzon Syndrome see Craniofacial Conditions
Cushing Syndrome/Disease
Cutis Hyperelastica see Ehlers-Danlos Syndrome
Cyclical Neutropenia see Congenital Neutropenia
Cyclical Vomiting
Cystic Dysplasia see Kidney Disease
Cystic Encephalomalacia see Porencephaly
Cystic Fibrosis
Cystic Hygroma
Cystinosis see Metabolic Diseases
Cystinuria see Metabolic Diseases
Cytochrome C Oxydase Deficiency see Metabolic Diseases and see Mitochondrial Cytopathies and Related Disorders
Cytomegalovirus

D+HUS see Haemolytic Uraemic Syndrome
DHPA see Purine & Pyrimidine Metabolic Diseases
DHPD see Purine & Pyrimidine Metabolic Diseases
DAF Syndrome see Niemann-Pick Disease
Dancing Eye Syndrome
Deaf/Blind/Rubella Damaged
Deafness
Deficiency of HLA Expression see Primary Immune Deficiencies
Dejerine-Sottas Disease see Muscular Dystrophy and allied disorders
Dermatitis Herpetiformis see Coeliac Disease
Dermatomyositis and Polymyositis
Diabetes Insipidus see Metabolic Diseases
Diabetes Mellitus
Diamond Blackfan Syndrome
Diaphyseal Aclasis see Hereditary Multiple Exostoses
Diastrophic Dysplasia see Restricted Growth
DiGeorge Syndrome see Primary Immune Deficiencies
Dihyropyrimidine dehydrogenase deficiency see Purine & Pyrimidine Metabolic Diseases
Dihyropyrimidinase deficiency see Purine & Pyrimidine Metabolic Diseases
Dilated Cardiomyopathy see Cardiomyopathies
Distal Muscular Dystrophy see Muscular Dystrophy and allied disorders
Donohue Syndrome see Metabolic Diseases
Double Inlet Ventricular see Heart Defects
Down's Syndrome
Down's Syndrome with Heart Defect
Duchenne Muscular Dystrophy
Duncan's Syndrome see Primary Immune Deficiencies
Durands Syndrome see Mucopolysaccharide Diseases and associated diseases
Dyskeratosis Congenita
Dyslexia
Dysmyelination see Metabolic Diseases
Dyspraxia
Dystonia
Dystrophia Myotonica see Myotonic Dystrophy
Dystrophic Epidermolysis Bullosa see Epidermolysis Bullosa

E.Coli 0157 infection see Haemolytic Uraemic Syndrome
EB Simplex see Epidermolysis Bullosa
EDS see Ehlers-Danlos Syndrome
EMG Syndrome see Beckwith-Wiedemann Syndrome
Eating Disorders
Ectodermal Dysplasia
Eczema
Edwards' Syndrome
Ehlers-Danlos Syndrome
Ellis-Van Creveld Syndrome
Emery-Dreifuss Disease see Muscular Dystrophy and allied disorders
Emphysema see Lung Diseases
Encephalitis
Encephalofacial Angiomatosis see Sturge-Weber Syndrome
Enchondromatosis see Olliers Disease
Endocardial Fibroelastosis see Metabolic Diseases
Enthesitis-related Arthritis see Arthritis (Juvenile Idiopathic)
Eosinophilic granuloma see Histiocytosis
Epidermal Naevus Syndrome see Hemimegalencephaly
Epidermolysis Bullosa
Epilepsy
Epispadias see Bladder Exstrophy
Epispadias Complex see Bladder Exstrophy
Erb's Palsy
Erythrogenesis imperfecta see Diamond Blackfan Syndrome
Erythromelalgia see Raynaud's Phenomenon
Ethylmalonic Aciduria see Metabolic Diseases
Ethylmalonic Adipic Aciduria see Metabolic Diseases
Eulenberg's Disease see Muscular Dystrophy and allied disorders
Exomphalos see Abdominal Exstrophies
Exomphalos-Macroglossia-Gigantism see Beckwith-Wiedemann Syndrome
Exostoses see Hereditary Multiple Exostoses
Extended Oligoarthritis see Arthritis (Juvenile Idiopathic)
Eye Defects see Visual Impairment
FAS see Fetal Alcohol Syndrome
FJHN see Purine & Pyrimidine Metabolic Diseases
Fabry-Anderson Disease see Anderson-Fabry Disease
Fabry's Disease see Anderson-Fabry Disease
Facial Disfigurement
Facioauriculovertebral Spectrum see Goldenhar Syndrome
Facioscapulohumeral Muscular Dystrophy
Facioscapuloperoneal Muscular Dystrophy see Facioscapulohumeral Muscular Dystrophy
Familial Combined Hyperlipidaemia see Familial Hyperlipidaemias
Familial Dysautonomia
Familial Haemorrhagic Telangiectasia see Hereditary Haemorrhagic Telangiectasia
Familial Hypercholesterolaemia see Familial Hyperlipidaemias
Familial Hyperlipidaemias
Familial Hypertriglyceridaemia see Familial Hyperlipidaemias
Familial juvenile hyperuricaemia nephropathy see Purine & Pyrimidine Metabolic Diseases
Familial Spastic Paraplegia
Familial Splenic Anaemia see Gauchers Disease
Fanconi's Anaemia
Feminising Testes Syndrome see Androgen Insensitivity Syndrome
Fetal Abnormality
Foetal Alcohol Effects see Fetal Alcohol Syndrome
Fetal Alcohol Syndrome
Fetal Anti-Convulsant Syndrome
Fibrosing Alveolitis see Lung Diseases
Fibrous Dysplasia see Brittle Bone Diseases (Osteogenesis Imperfecta)
Fingerprint Body Myopathy see Muscular Dystrophy and allied disorders
First Arch Syndrome see Treacher-Collins Syndrome
Fisher Syndrome see Guillain-Barré Syndrome and other Neuropathies
Fish Odour Syndrome see Metabolic Diseases
Fits and Faints see Reflex Anoxic Seizures
Floating-Harbor Syndrome
Foetal Abnormality see Fetal Abnormality
Foetal Alcohol Syndrome see Fetal Alcohol Syndrome
Foetal Anti-Convulsant Syndrome see Fetal Anti-Convulsant Syndrome
Fong's Disease see Nail-Patella Syndrome
Forbes Disease see Glycogen Storage Diseases
Fragile X Syndrome
Franceschetti-Klein see Treacher-Collins Syndrome
Friedreich's Ataxia and all inherited ataxias
Fructose Intolerance, Hereditary see Metabolic Diseases
Fructose 1/6 Dyphosphatase Deficiency see Metabolic Diseases
Fucosidosis see Mucopolysaccharide Diseases and associated diseases
Fukuyama Congenital Muscular Dystrophy see Lissencephaly
Fybrodysplasia Ossificans Progressiva see Metabolic Diseases
Galactokinase Deficiency see Metabolic Diseases
Galactosaemia
Gangliosidosis GM1 see Metabolic Diseases
Gangliosidosis GM2 see Metabolic Diseases
Gastro-oesophageal reflux see Gut Motility Disorders
Gastroschisis see Abdominal Exstrophies
Gauchers Disease
Gilbert-Dreyfus Syndrome see Androgen Insensitivity Syndrome
Gilberts Disease see Metabolic Diseases
Gilles de la Tourette Syndrome see Tourette Syndrome
Gitelman's Disease see Metabolic Diseases
Glanzmann's Thrombasthenia
Glaucoma
Gliomas see Brain Tumours
Global Disaccharide Intolerance see Metabolic Diseases
Glucose-6-Phosphate Dehydrogenase Deficiency see Metabolic Diseases
Glucose Galactose Malabsorption Deficiency see Metabolic Diseases
Glutaric Aciduria Type I see Organic Acidaemias
Glutaric Aciduria Type II see Metabolic Diseases
Glutathion Synthetase Deficiency see Metabolic Diseases
Glycerol Kinase Deficiency see Metabolic Diseases
Glycogen Storage Diseases
Goldberg-Maxwell Syndrome see Androgen Insensitivity Syndrome
Goldenhar Syndrome
Gonadal dysgenes is (XO) see Turner Syndrome
Gorlin-Goltz Syndrome see Gorlin Syndrome
Gorlin Syndrome
Granulomatous Disease see Chronic Granulomatous Disorder
Graves Disease see Thyroid Disorders
Group B Streptococcus
Growth Hormone Deficiency
Guanidinoacetic Acid Methyltransferase Deficiency see Metabolic Diseases
Guillain-Barré Syndrome and other Neuropathies
Guinon's Myospasia Impulsiva see Tourette Syndrome
Gut Motility Disorders

HCM see Cardiomyopathies
HGG see Primary Immune Deficiencies
HHH see Metabolic Diseases
HHT see Hereditary Haemorrhagic Telangiectasia
HIV Infection and AIDS
HLH see Histiocytosis
HMC see Hemimegalencephaly
HMG CoA Lyase Deficiency see Organic Acidaemias
HOCM see Cardiomyopathies
HOOD see Nail-Patella Syndrome
HPE see Holoprosencephaly
HPRT-complete deficiency see Purine & Pyrimidine Metabolic Diseases
HPRT-partial deficiency see Purine & Pyrimidine Metabolic Diseases
HSP see Henoch Schonlein Purpura
Haemochromatosis
Haemolytic Uraemic Syndrome
Haemophagocytic Lymphohistiocytosis see Histiocytosis
Haemophilia, von Willebrand Disease and other coagulation defects
Haemorrhagic nodular glycolipid lipidosis see Anderson-Fabry Disease
Hallervorden Spatz see Metabolic Diseases
Hand Schuller Christian Syndrome see Histiocytosis
Harlequin Ichthyosis see Ichthyosis
Hartnup Disease see Metabolic Diseases
Head Injuries
Heart and Heart/Lung Transplant
Heart Defects
Hemifacial Microsomia see Goldenhar Syndrome
Hemimegalencephaly
Hemiplegia
Henoch Schonlein Purpura
Hereditary Angioedema see Primary Immune Deficiencies
Hereditary Haemorrhagic Telangiectasia
Hereditary Motor and Sensory Neuropathy see Charcot-Marie-Tooth Disease
Hereditary Multiple Exostoses
Hereditary orotic aciduria see Purine & Pyrimidine Metabolic Diseases
Hereditary-Osteo-Onycho-Dysplasia see Nail-Patella Syndrome
Hereditary Progressive Arthro-Ophthalmopathy see Stickler Syndrome
Hereditary renal hypouricaemia see Purine & Pyrimidine Metabolic Diseases
Hermansky-Pudlak Syndrome see Metabolic Diseases
Hexosaminidase A Deficiency see Metabolic Diseases
Hirschsprung Disease see Gut Motility Disorders
Histiocytosis
Histiocytosis X see Histiocytosis
Hodgkin's Disease
Holocarboxylase Deficiency see Organic Acidaemias
Holoprosencephaly
Holt-Oram Syndrome
Homocystinuria see Metabolic Diseases
Homozygous Beta Thalassaemia see Thalassaemia Major (Beta-thalassaemia)
Horner Syndrome see Erb's Palsy
Hunter Syndrome see Mucopolysaccharide Diseases and associated diseases
Huntington's Chorea see Huntington's Disease
Huntington's Disease
Hurler Scheie see Mucopolysaccharide Diseases and associated diseases
Hurler Syndrome see Mucopolysaccharide Diseases and associated diseases
Hydrocephalus
Hydrophthalmia see Glaucoma
Hydroxicarboxylic Aciduria see Metabolic Diseases
Hyperactivity see Attention Deficit Hyperactivity Disorder
Hyperammonaemia see Metabolic Diseases
Hypercalcaemia Hypocalcinuria see Metabolic Diseases
Hypercalcinuria see Metabolic Diseases
Hypercarotinaemia see Metabolic Diseases
Hypercholesterolaemia see Metabolic Diseases
Hyperchylomicronaemia see Metabolic Diseases
Hyperglycinaemia see Metabolic Diseases
Hyper IgE Syndrome see Primary Immune Deficiencies
Hyper IgM Syndrome see Primary Immune Deficiencies
Hyperinsulinism see Metabolic Diseases
Hyperkinetic Disorder see Attention Deficit Hyperactivity Disorder
Hyperlipidaemia see Metabolic Diseases
Hyperlipoproteinaemia see Metabolic Diseases
Hyperornithinaemia see Metabolic Diseases
Hyperornithinaemia-Hyperammonaemia-Homocitrullinaemia see Metabolic Diseases
Hyperoxaluria (Type 1) see Metabolic Diseases
Hyperprolinaemia see Metabolic Diseases
Hypertelorism see Craniofacial Conditions
Hyperthyroidism see Thyroid Disorders
Hypertriglyceridaemia see Metabolic Diseases
Hypertrophic Cardiomyopathy see Cardiomyopathies
Hypertrophic Obstructive Cardiomyopathy see Cardiomyopathies
Hypobetalipoprotinaemia see Metabolic Diseases
Hypochondroplasia see Restricted Growth
Hypogammaglobulinaemia see Primary Immune Deficiencies
Hypoglycaemia see Metabolic Diseases
Hypolipoproteinaemia see Metabolic Diseases
Hypoparathyroidism see Metabolic Diseases
Hypophosphatasia see Metabolic Diseases
Hypophosphatemic Rickets see Metabolic Diseases
Hypoplastic congenital anaemia see Diamond Blackfan Syndrome
Hypoplastic Left Heart Syndrome see Heart Defects
Hypoprothrombinaemia see Metabolic Diseases
Hypothyroidism see Thyroid Disorders
Hypoxanthine phosphoribosyltransferase see Purine & Pyrimidine Metabolic Diseases

I Cell Disease see Mucopolysaccharide Diseases and associated diseases
IHSS see Cardiomyopathies
ITD see Dystonia
ITP see Immune (Idiopathic) Thrombocytopenic Purpura
Ichthyosis
Ichthyosis Vulgaris see Ichthyosis
Idiopathic Erythroblastopenia see Diamond Blackfan Syndrome
Idiopathic Hypertrophic Sub-Aortic Stenosis see Cardiomyopathies
Idiopathic Juvenile Osteoporosis see Juvenile Osteoporosis
Idiopathic Leukoderma see Vitiligo
Idiopathic Neonatal Hepatitis see Liver Disease
Idiopathic Torsion Dystonia see Dystonia
Immotile Cilia Syndrome see Primary Ciliary Dyskinesia
Immunoglobulin Light Chain Deficiency see Primary Immune Deficiencies
Immune (Idiopathic) Thrombocytopenic Purpura
Imperforate Anus see Intestinal and Urological Conditions
Incomplete Androgen Insensitivity see Androgen Insensitivity Syndrome
Infantile Neuroaxonal Dystrophy see Metabolic Diseases
Infantile Paralysis see Poliomyelitis
Infantile Spasms see West Syndrome
Infective Myositis see Muscular Dystrophy and allied disorders
Inherited Disciform Macular Degeneration see Retinitis Pigmentosa
Inosine triphosphate pyrophosphohydrolase deficiency see Purine & Pyrimidine Metabolic Diseases
Insulin Dependence see Diabetes Mellitus
Intestinal and Urological Conditions
Interleukin Deficiency see Primary Immune Deficiencies
Irritable Bowel Syndrome
Isolated Lissencephaly Sequence see Lissencephaly
Isolated Premature Thelarche see Premature Sexual Maturation
Isovaleric Acidaemia see Organic Acidaemia
Ivemark Syndrome

Jackknife convulsions see West Syndrome
Job's Syndrome see Primary Immune Deficiencies
Junctional EB see Epidermolysis Bullosa
Juvenile Dystonic Lipidosis see Niemann-Pick Disease
Juvenile Nephronopthisis see Kidney Disease
Juvenile Osteoporosis

KID Syndrome see Ichthyosis
Kartagener Syndrome see Primary Ciliary Dyskinesia
Kawasaki Disease
Kawasaki Syndrome see Kawasaki Disease
Kearns-Sayer Disease see Metabolic Diseases and see Mitochondrial Cytopathies and Related Disorders
Kidney Disease
Kinsbourne Syndrome see Dancing Eye Syndrome
Kleeblattschäedel Syndrome see Craniofacial Conditions
Klinefelter Syndrome
Klippel-Trenaunay Syndrome
Klumpke's Paralysis see Erb's Palsy
Kohlers Disease see Perthes Disease
Krabbes Leukodystrophy see Metabolic Diseases
Kuf's Disease see Metabolic Diseases
Kugelberg-Welander Disease see Spinal Muscular Atrophy

LCAD see Metabolic Diseases
LEMS see Myasthenia Gravis
LIMD see Mitochondrial Cytopathies and Related Disorders
Lactic Acidosis see Metabolic Diseases and see Mitochondrial Cytopathies and Related Disorders
Lafora Body Disease see Metabolic Diseases
Lambert-Eaton Myasthenia Syndrome see Myasthenia Gravis
Lamellar Ichthyosis see Ichthyosis
Landau-Kleffner Syndrome
Landouzy-Dejerine see Facioscapulohumeral Muscular Dystrophy
Landry's Ascending Paralysis see Guillain-Barré Syndrome and other Neuropathies
Langerhans Cell Histiocytosis see Histiocytosis
Language Disorder see Speech and Language Impairment
Laurence-Moon-Bardet-Biedl Syndrome
Laurence-Moon-Biedl see Laurence-Moon-Bardet-Biedl Syndrome
Learning Disability
Learning Problem see Dyslexia
Leber's Amaurosis see Leber's Congenital Amaurosis
Leber's Congenital Amaurosis
Leber's Optic Atrophy see Leber's Optic Neuropathy
Leber's Optic Neuropathy
Legg-Calve-Perthes Disease see Perthes Disease
Leigh's Encephalopathy see Metabolic Diseases and see Mitochondrial Cytopathies and Related Disorders
Lejeune Syndrome see Cri du Chat Syndrome
Lennox-Gastaut Syndrome
Leprechaunism see Metabolic Diseases
Leroy Syndrome (ML II) see Mucopolysaccharide Diseases and associated diseases
Lesch-Nyhan Syndrome see Purine & Pyrimidine Metabolic Diseases
Lethal Infantile Mitochondrial Disease see Mitochondrial Cytopathies and Related Disorders
Letterer Siwe Disease see Histiocytosis
Leukaemia and other Allied Blood Disorders
Leukodystrophy see Metabolic Diseases
Limb Girdle Dystrophy see Muscular Dystrophy and allied disorders
Linear Naevus Sebaceous Syndrome see Hemimegalencephaly
Lipodystrophy see Metabolic Diseases
Lissencephaly
Liver Disease
Lobar HPE see Holoprosencephaly
Localised Nodular Myosotis see Muscular Dystrophy and allied disorders
Long Chain Acyl Deficiency see Metabolic Diseases
Lowe Syndrome
Lower Limb Abnormalities
Lower Limb Deficiency see Lower Limb Abnormalities
Lub's Syndrome see Androgen Insensitivity Syndrome
Luft Disease see Mitochondrial Cytopathies and Related Disorders
Lung Diseases
Lung Transplant see Heart and Heart/Lung Transplant
Lupus
Lymphocytic Interstitial Pneumonitis see HIV Infection and AIDS
Lymphoedema
Lymphomas see Hodgkin's Disease

MCAD see Metabolic Diseases
MDA see Purine & Pyrimidine Metabolic Diseases
ME see Myalgic Encephalomyelitis
MED see Perthes Disease
MELAS see Metabolic Diseases and see Mitochondrial Cytopathies and Related Disorders
MERRF see Mitochondrial Cytopathies and Related Disorders
MG see Myasthenia Gravis
ML I see Mucopolysaccharide Diseases and associated diseases
ML II see Mucopolysaccharide Diseases and associated diseases
ML III see Mucopolysaccharide Diseases and associated diseases
ML IV see Mucopolysaccharide Diseases and associated diseases
MNGIE see Mitochondrial Cytopathies and Related Disorders
MPHD see Growth Hormone Deficiency
MPS I see Mucopolysaccharide Diseases and associated diseases
MPS II see Mucopolysaccharide Diseases and associated diseases
MPS III see Mucopolysaccharide Diseases and associated diseases
MPS IV see Mucopolysaccharide Diseases and associated diseases
MPS VI see Mucopolysaccharide Diseases and associated diseases
MPS VII see Mucopolysaccharide Diseases and associated diseases
MTAP see Purine & Pyrimidine Metabolic Diseases
Macular Dystrophy see Retinitis Pigmentosa
Male Pseudo-Hermaphroditism see Androgen Insensitivity Syndrome
Malignant Hyperpyrexia see Malignant Hyperthermia
Malignant Hyperthermia
Mandibulo Dysostosis see Treacher-Collins Syndrome
Mannosidosis see Mucopolysaccharide Diseases and associated diseases
Maple Syrup Urine Disease see Organic Acidaemias
Marfan Syndrome
Marinesco-Sjogren see Metabolic Diseases
Maroteaux Lamy see Mucopolysaccharide Diseases and associated diseases
McArdle Disease see Glycogen Storage Diseases
Mediterranean Anaemia see Thalassaemia Major (Beta-thalassaemia)
Medium Chain Acyl Co-Enzyme Dehydrogenase Deficiency see Metabolic Diseases
Medulloblastomas see Brain Tumours
Melnick-Needles Syndrome
Meningitis
Menkes see Metabolic Diseases
Mental Health
Mental Handicap see Learning Disability
Metachromatic Leukodystrophy see Metabolic Diseases
Metabolic Diseases
Methionine Adenosyl Transferase see Metabolic Diseases
Methylenetetrahydrofolate Reductase Deficiency see Metabolic Diseases
Methylmalonic Aciduria see Organic Acidaemias
Methylthioadenosine phosphorylase deficiency see Purine & Pyrimidine Metabolic Diseases
Microcephaly
Microphthalmia see Anophthalmia
Microphthalmus see Coloboma
Migraine
Miller-Dieker Syndrome see Lissencephaly
Miller-Fisher Syndrome see Guillain-Barré Syndrome and other Neuropathies
Milroy Disease see Lymphoedema
Mitochondrial Complex I see Metabolic Diseases
Mitochondrial Complex 2/3 see Metabolic Diseases and see Mitochondrial Cytopathies and Related Disorders
Mitochondrial Cytopathies and Related Disorders
Mitochondrial DNA Mutations see Mitochondrial Cytopathies and Related Disorders
Mitochondrial Deficiency see Metabolic Diseases
Mitochondrial Diseases see Mitochondrial Cytopathies and Related Disorders
Mitochondrial Encephalomyopathy see Metabolic Diseases and see Mitochondrial Cytopathies and Related Disorders
Mitochondrial Fatty Oxidase Disorders see Mitochondrial Cytopathies and Related Disorders
Mitochondrial mi (maternal inheritance) DNA see Metabolic Diseases and see Mitochondrial Cytopathies and Related Disorders
Mitochondrial Myopathy see Mitochondrial Cytopathies and Related Disorders and see Muscular Dystrophy and allied disorders
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis and Mitoketothiolase Deficiency see Metabolic Diseases
Möbius Syndrome see Moebius Sequence/Syndrome
Moebius Sequence/Syndrome
Molybdenum CoFactor Deficiency see Metabolic Diseases
Molybdenum co-factor deficiency - Combined XOD/sulphate oxidase deficiency see Purine & Pyrimidine Metabolic Diseases
Monosomy X see Turner Syndrome
Morquio see Mucopolysaccharide Diseases and associated diseases
Morris's Syndrome see Androgen Insensitivity Syndrome
Motor Impairment see Cerebral Palsy
Motor Neurone Disease
Mucocutaneous Lymph Node Syndrome see Kawasaki Disease
Mucolipidosis see Mucopolysaccharide Diseases and associated diseases
Mucopolysaccharide Diseases and associated diseases
Multiple Acyl CoA Dehydrogenase Deficiency see Metabolic Diseases
Multiple Births see Twins with Special Needs/Multiple Births
Multiple Carboxylase Deficiency see Metabolic Diseases
Multiple Epiphyseal Dysplasia see Perthes Disease
Multiple Myeloma see Leukaemia and other Allied Blood Disorders
Multiple osteochondromatosis see Hereditary Multiple Exostoses
Multiple Pituitary Hormone Deficiency see Growth Hormone Deficiency
Multiple Sclerosis
Multiple Sulphatase Deficiency see Mucopolysaccharide Diseases and associated diseases
Muscular Dystrophy and allied disorders
Muscular Sub-Aortic Stenosis see Cardiomyopathies
Myalgic Encephalomyelitis
Myasthenia Gravis
Myasthenic-Myopathic Syndrome see Myasthenia Gravis
Myoadenylate Deaminase see Purine & Pyrimidine Metabolic Diseases
Myoclonic Encephalopathy see Dancing Eye Syndrome
Myoclonic Epilepsy and Ragged-Red Fibre's see Mitochondrial Cytopathies and Related Disorders
Myoneurogastrointestinal Disorder and Encephalopathy see Mitochondrial Cytopathies and Related Disorders
Myotonia Congenita see Muscular Dystrophy and allied disorders
Myotonic Dystrophy

NAGS Deficiency see Metabolic Diseases
NARP see Mitochondrial Cytopathies and Related Disorders
N-Acetylglutamate Synthetase Deficiency see Metabolic Diseases
Nager Syndrome
Nail-Patella Syndrome
Narcolepsy
Nemaline Myopathy see Muscular Dystrophy and allied disorders
Neonatal Death see Stillbirths and Neonatal Deaths
Neonatal Hypoglycemia-Visceromegaly-Macroglossia-Microcephaly see Beckwith-Wiedemann Syndrome
Nephronopthisis see Kidney Disease
Netherton's Syndrome see Ichthyosis
Neural Tube Defect see Spina Bifida
Neuroblastoma
Neurofibromatosis
Neuropathy, Ataxia and Retinitis Pigmentosa see Mitochondrial Cytopathies and Related Disorders
Neurovisceral Storage Disease see Niemann-Pick Disease
Neutral Lipid Storage Disease see Ichthyosis
Neutropenia see Congenital Neutropenia
Nevilles Disease see Niemann-Pick Disease
Niemann-Pick Disease
Non-Bullous Ichthyosiform Erythroderma see Ichthyosis
Non-Epileptic Seizures see Reflex Anoxic Seizures
Non-Hodgkin's Lymphoma see Hodgkin's Disease
Norman-Roberts Syndrome see Lissencephaly
Nuclear DNA Mutations see Mitochondrial Cytopathies and Related Disorders
Nystagmus

OCD see Anxiety Disorders
OTC Deficiency see Metabolic Diseases
Obsessive compulsive disorder see Anxiety Disorders
Occlusive Infantile Arteriopathy see Metabolic Diseases
Occupational Lung Diseases see Lung Diseases
Ocular Albinism see Albinism
Ocular Muscular Dystrophy see Muscular Dystrophy and allied disorders
Ocular Myasthenia see Myasthenia Gravis
Oculopharyngeal Muscular Dystrophy see Muscular Dystrophy and allied disorders
Oculoauriculovertebral Dysplasia see Goldenhar Syndrome
Oculo-cerebro-renal Syndrome see Lowe Syndrome
Oculo-cutaneous albinism see Albinism
Oesophageal Atresia see Tracheo-Oesophageal Fistula and/or Oesophageal Atresia
Ohdo Blepharophimosis Syndrome see Ohdo Syndrome
Ohdo Syndrome
Oligoarthritis see Arthritis (Juvenile Idiopathic)
Olivopontocerebellar Atrophy see Metabolic Diseases
Olliers Disease
Omenn's Syndrome see Primary Immune Deficiencies
Ondine's see Congenital Central Hypoventilation Syndrome
Ondine's Curse see Congenital Central Hypoventilation Syndrome
Opsoclonus-Myoclonus see Dancing Eye Syndrome
Optic Nerve Hypoplasia
Organic Acidaemias
Ornithinaemia see Metabolic Diseases
Ornithine Transcarbanylase Deficiency see Metabolic Diseases
Oromandibular Dystonia see Dystonia
Osgood Schlatter Disease see Perthes Disease
Osler-Rendu-Weber see Hereditary Haemorrhagic Telangiectasia
Osteochondritis of the Upper Femoral Epiphysis see Perthes Disease
Osteodysplasia see Melnick-Needles Syndrome
Osteodysplasty see Melnick-Needles Syndrome
Osteogenesis Imperfecta see Brittle Bone Diseases (Osteogenesis Imperfecta)
Osteopetrosis
Osteoporosis see Juvenile Osteoporosis
Otto Syndrome see Arthrogryposis
Oxygen Dependency see Broncho Pulmonary Dysplasia

PAIS see Androgen Insensitivity Syndrome
PDA see Heart Defects
PDH see Metabolic Diseases and see Mitochondrial Cytopathies and Related Disorders
PEO see Mitochondrial Cytopathies and Related Disorders
PEPCK see Mitochondrial Cytopathies and Related Disorders
PID see Primary Immune Deficiencies
PKU see Phenylketonuria
PNP see Purine & Pyrimidine Metabolic Diseases
PR PS see Purine & Pyrimidine Metabolic Diseases
Paediatric HIV Infection see HIV Infection and AIDS
Pallid Infantile Syncope see Reflex Anoxic Seizures
Panic Attack see Anxiety Disorders
Paramyotonia congenita see Muscular Dystrophy and allied disorders
Paraplegia see Spinal Injuries
Partial Androgen Insensitivity Syndrome see Androgen Insensitivity Syndrome
Patau Syndrome
Pearson Syndrome see Mitochondrial Cytopathies and Related Disorders
Pelizaeus-Merzbacher Syndrome
Perceptuo-motor Dysfunction see Dyspraxia
Peroneal Muscular Atrophy see Charcot-Marie-Tooth Disease
Peroxisomal Defects see Metabolic Diseases
Persistent Ductus Arteriosus see Heart Defects
Persistent Oligoarthritis see Arthritis (Juvenile Idiopathic)
Perthes Disease
Petit Mal see Epilepsy
Pfeiffer Syndrome see Craniofacial Conditions
Phenosulphotransferase P Deficiency see Metabolic Diseases
Phenylketonuria
Phobia see Anxiety Disorders
Phosphoenolpyruvate Carboxykinase Deficiency see Mitochondrial Cytopathies and Related Disorders
Phosphoribosylpyrophospate synthetase superactivity see Purine & Pyrimidine Metabolic Diseases
Phosphorylation Diseases see Mitochondrial Cytopathies and Related Disorders
Pierre Robin Syndrome
Pneumocystic Carinii Pneumonia see HIV Infection and AIDS
Pneumocystis Pneumonia see HIV Infection and AIDS
Poland Syndrome see Lower Limb Abnormalities
Poliomyelitis
Polyarthritis see Arthritis (Juvenile Idiopathic)
Polyarticular Arthritis see Arthritis (Juvenile Idiopathic)
Polymyositis see Dermatomyositis and Polymyositis
Polycystic Disease see Kidney Disease
Pompe Disease see Glycogen Storage Diseases
Pontocerebellar Hypoplasia Type 2 see Metabolic Diseases
Porencephaly
Porphyria see Metabolic Diseases
Porphyria - Protoporphyria Proto see Metabolic Diseases
Post Infectious Radiculoneuropathy see Guillain-Barré Syndrome and other Neuropathies
Prader-Willi Syndrome
Precocious Puberty see Premature Sexual Maturation
Pre-eclampsia
Pre-eclamptic Toxaemia see Pre-eclampsia
Premature Adrenarch see Premature Sexual Maturation
Premature Babies see Prematurity and sick newborn
Premature Sexual Maturation
Prematurity and sick newborn
Primary Ciliary Dyskinesia
Primary Gout see Purine & Pyrimidine Metabolic Diseases
Primary Immune Deficiencies
Progeria see Metabolic Diseases
Proteus Syndrome
Primary Red Cell Anaemia see Diamond Blackfan Syndrome
Progressive Bulbar Palsy see Motor Neurone Disease
Progressive External Opthalmoplegia see Mitochondrial Cytopathies and Related Disorders
Progressive Hypertrophic Interstitial Polyneuropathy see Muscular Dystrophy and allied disorders
Progressive Muscular Atrophy see Motor Neurone Disease
Properdin Deficiency see Primary Immune Deficiencies
Propionic Acidaemia see Organic Acidaemias
Prune Belly see Intestinal and Urological Conditions
Pseudo Achondroplasia see Restricted Growth
Pseudo Hurler Polydystrophy see Mucopolysaccharide Diseases and associated diseases
Pseudoachondroplasia see Restricted Growth
Pseudocholinesterase Deficiency see Metabolic Diseases
Pseudohypoaldosteronism see Metabolic Diseases
Pseudohypoparathyroidism see Metabolic Diseases
Pseudopseudo Hypoparathyroidism see Metabolic Diseases
Pseudoxanthoma Elasticum see Metabolic Diseases
Psoriasis
Psoriatic Arthritis see Arthritis (Juvenile Idiopathic)
Psoriatic Arthropathy
Psoriatic Spondylitis see Psoriatic Arthropathy
Pulmonary Fibrosis see Lung Diseases
Pulmonary Stenosis see Heart Defects
Purine & Pyrimidine Metabolic Diseases
Purine Metabolism see Purine & Pyrimidine Metabolic Diseases
Purine Nucleoside Phosphorylase Deficiency see Purine & Pyrimidine Metabolic Diseases
Pyrimidine 5' - nucleotidase deficiency see Purine & Pyrimidine Metabolic Diseases
Purtillo's Syndrome see Primary Immune Deficiencies
Pyridoxine Dependent Vitamin B deficiency see Metabolic Diseases
Pyrimidine 5-nucleotidase deficiency see Purine & Pyrimidine Metabolic Diseases
Pyroglutamic Aciduria see Metabolic Diseases
Pyruvate Dehydrogenase Complex Deficiency see Metabolic Diseases and see Mitochondrial Cytopathies and Related Disorders
Pyruvate Dehydrogenase Deficiency see Metabolic Diseases and see Mitochondrial Cytopathies and Related Disorders
Pyruvate Kinase Deficiency see Metabolic Diseases

RSV see Lung Diseases
Raynaud's Phenomenon
Reading Disorders see Dyslexia
Recessive Spino-cerebellar Degeneration see Friedreich's Ataxia and all inherited ataxias
Reflex Anoxic Seizures
Reflex Sympathetic Dystrophy
Refsum's Disease see Ichthyosis
Reifenstein Syndrome see Androgen Insensitivity Syndrome
Renal Failure see Kidney Disease
Rendu-Osler-Weber see Hereditary Haemorrhagic Telangiectasia
Respiratory Chain Disorders see Mitochondrial Cytopathies and Related Disorders
Respiratory Syncytial Virus see Lung Diseases
Restricted Growth
Reticular Dysgenesis see Primary Immune Deficiencies
Retinitis Pigmentosa
Retinoblastoma
Retinopathy see Visual Impairment
Rett Syndrome
Reye Syndrome
Rhizomelic Chondrodysplasia Punctata see Restricted Growth
Right Atrial Isomerism see Ivemark Syndrome
Riley-Day Syndrome see Metabolic Diseases
Robin Anomalad see Pierre Robin Syndrome
Rosai-Dorfman Disease see Histiocytosis
Rubella Damage see Deaf/Blind/Rubella Damaged
Rubinstein Taybi Syndrome
Russell-Silver Syndrome see Silver-Russell Syndrome

SCID see Primary Immune Deficiencies
SED see Restricted Growth
SIDS see Cot Death
SLE see Lupus
SMA see Spinal Muscular Atrophy
S-adenosylhomocysteine hydolase deficiency see Purine & Pyrimidine Metabolic Diseases
Saccade Initiation Failure see Congenital Ocular Motor Apraxia
Sacral Agenesis
Saethre-Chotzen see Craniofacial Conditions
Sagital Craniosynostosis see Craniofacial Conditions
Salaam attacks see West Syndrome
Sandhoff's Disease see Metabolic Diseases
Sanfilippo see Mucopolysaccharide Diseases and associated diseases
Sarcoidosis see Lung Diseases
Scapulohumeral Dystrophy see Muscular Dystrophy and allied disorders
Scapuloperoneal Dystrophy see Muscular Dystrophy and allied disorders
Schilder's Disease see Adrenoleukodystrophy
Scheie see Mucopolysaccharide Diseases and associated diseases
Scheurmanns Disease see Perthes Disease
Schilder's Disease see Metabolic Diseases
Schizophrenia
Scleroderma
Scoliosis
Second Arch Syndrome see Treacher-Collins Syndrome
Segawa's Syndrome see Dystonia
Seizures (epileptic) see Epilepsy
Seizures (anoxic) see Reflex Anoxic Seizures
Selective IgA Deficiency see Primary Immune Deficiencies
Semilobar HPE see Holoprosencephaly
Septo-optic Dysplasia see Optic Nerve Hypoplasia
Serum Cholinesterase Deficiency see Metabolic Diseases
Severe Combined Immune Deficiency see Primary Immune Deficiencies
Severs Disease see Perthes Disease
Short Stature see Restricted Growth
Shwachman-Diamond Syndrome see Shwachman Syndrome
Shwachman Syndrome
Sialic Acid Storage Disease see Mucopolysaccharide Diseases and associated diseases
Sialidosis see Mucopolysaccharide Diseases and associated diseases
Sickle Cell Anaemia
Sick New Born Babies see Prematurity and sick newborn
Silver-Russell Syndrome
Silver's Syndrome see Silver-Russell Syndrome
Sjögren-Larsson Syndrome see Ichthyosis
Sjögren's Syndrome see Raynaud's Phenomenon
Sly see Mucopolysaccharide Diseases and associated diseases
Small Eye see Coloboma
Smith Magenis Syndrome
Sotos Syndrome
Spasticity see Cerebral Palsy
Speech and Language Impairment
Sphingomyelin Lipidosis see Niemann-Pick Disease
Spina Bifida
Spina Bifida Cystica see Spina Bifida
Spina Bifida Occulta see Spina Bifida
Spinal Cord Injury see Spinal Injuries
Spinal Injuries
Spinal Muscular Atrophy
Spondylo Epiphyseal Dysplasia see Restricted Growth
Spongiform Leukodystrophy see Metabolic Diseases
Stammering
Stargardt's Disease see Retinitis Pigmentosa
Steinert's Disease see Myotonic Dystrophy
Steroid Sulphatase Deficiency with Icthiosis and Microcephaly with Global Delay see Metabolic Diseases
Stickler Syndrome
Stillbirths and Neonatal Deaths
Stills Disease see Arthritis (Juvenile Idiopathic)
Stomas see Intestinal and Urological Conditions
Stroke
Stroke-like Episodes see Metabolic Diseases and see Mitochondrial Cytopathies and Related Disorders
Struempell-Lorraine Syndrome see Familial Spastic Paraplegia
Sturge-Weber Syndrome
Sucrose Isomaltose Enzyme Deficiency see Metabolic Diseases
Sudanophilic Leukodystrophy see Adrenoleukodystrophy
Sudden Infant Death Syndrome see Cot Death
Supranuclear Opthalmoplegic Lipidosis see Niemann-Pick Disease
Syringomyelia
Systemic Arthritis see Arthritis (Juvenile Idiopathic)
Systemic Lupus Erythematosus see Lupus
Systemic Sclerosis see Scleroderma
TAR Syndrome
TB see Tuberculosis
TPMT see Purine & Pyrimidine Metabolic Diseases
Talipes see Lower Limb Abnormalities
Tauri Disease see Glycogen Storage Diseases
TaySachs Disease
T-cell Activation Deficiency see Primary Immune Deficiencies
T-cell Receptor Deficiency see Primary Immune Deficiencies
Termination of Pregnancy see Fetal Abnormality
Testicular Feminisation see Androgen Insensitivity Syndrome
Tetrahydrobiopterin Deficiency see Metabolic Diseases
Tetralogy of Fallot see Heart Defects
Tetraplegia see Spinal Injuries
Thalassaemia Major (Beta-thalassaemia)
Thiopurine methyltransferase deficiency/superactivity see Purine & Pyrimidine Metabolic Diseases
Thomsen Disease see Muscular Dystrophy and allied disorders
Thrombocytopenia with Absent Radii see TAR Syndrome
Thymic Aplasia see Primary Immune Deficiencies
Thymoma with Hypogammaglobulinaemia see Primary Immune Deficiencies
Thyroid Disorders
Thyrotoxicosis see Thyroid Disorders
Tinnitus
Torticollis see Dystonia
Tourette Syndrome
Toxocariasis
Toxoplasmosis
Tracheo-Oesophageal Fistula and/or Oesophageal Atresia
Tracheostomy
Transcobalamin II Deficiency see Primary Immune Deficiencies
Transient Hypogammaglobulinaemia of Infancy see Primary Immune Deficiencies
Transient Ischaemic Attack see Stroke
Transposition of Great Arteries see Heart Defects
Transverse Myelitis see Guillain-Barré Syndrome and other Neuropathies
Treacher-Collins Syndrome
Tricuspid Atresia see Heart Defects
Trigonocephaly see Craniofacial Conditions
Trimethylamineuria see Metabolic Diseases
Triosephosphate Isomerase Deficiency see Metabolic Diseases
Trisomy 13 see Patau Syndrome
Trisomy 18 see Edwards' Syndrome
Trisomy 21 see Down's Syndrome
Trisomy 21 with Heart Defect see Down's Syndrome with Heart Defect
Tryptophan Malabsorption see Metabolic Diseases
Tuberculosis
Tuberous Sclerosis
Turner Syndrome
Turner-Ullrich Syndrome see Turner Syndrome
Twins with Special Needs/Multiple Births
Tyrosinaemia Type 1 see Metabolic Diseases
UMP hydrolase deficiency see Purine & Pyrimidine Metabolic Diseases
Ulcerative Colitis see Crohn's Disease and Ulcerative Colitis
Upper Limb Abnormalities
Usher Syndrome
VATER Association
VLCAD see Metabolic Diseases
VSD see Heart Defects
VTEC 0157 infection see Haemolytic Uraemic Syndrome
Very Long Chain Acyl CoA Dehydrogenase Deficiency see Metabolic Diseases
Viral Encephalitis see Encephalitis
Viral Fatigue Syndrome see Myalgic Encephalomyelitis
Visual Impairment
Vitiligo
Vitamin D Resistant Rickets see Metabolic Diseases
Von Gierke Disease see Glycogen Storage Diseases
Von Hippel-Lindau Syndrome
Von Recklinghausen's Disease see Neurofibromatosis
Von Willebrand Syndrome see Haemophilia, von Willebrand Disease and other coagulation defects
Walker-Warburg Syndrome see Lissencephaly
Weaver Syndrome see Sotos Syndrome
Weil's Disease see Meningitis
Werdnig-Hoffman Disease see Spinal Muscular Atrophy
West Syndrome
White Breath Holding see Reflex Anoxic Seizures
Wiedemann-Rautenstrauch Syndrome see Metabolic Diseases
Williams-Beuren Syndrome see Williams Syndrome
Williams Syndrome
Wilson's Disease see Metabolic Diseases
Winchester Syndrome see Mucopolysaccharide Diseases and associated diseases
Wiskott-Aldrich Syndrome see Primary Immune Deficiencies
Wolf-Hirschhorn Syndrome
Wolman's Disease see Metabolic Diseases
Worster-Drought Syndrome
XLA see Primary Immune Deficiencies
XLP see Primary Immune Deficiencies
XO Syndrome see Turner Syndrome
XOD see Purine & Pyrimidine Metabolic Diseases
XXY see Klinefelter Syndrome
XXXY see Klinefelter Syndrome
XXXXY see Klinefelter Syndrome
X-Linked Agammaglobulinaemia see Primary Immune Deficiencies
X-Linked Ichthyosis see Ichthyosis
X-Linked Lymphoproliferative Syndrome see Primary Immune Deficiencies
Xanthine Oxidase/Sulphite Oxidase Deficiency see Metabolic Diseases
Xanthinuria deficiency see Purine & Pyrimidine Metabolic Diseases
Xeroderma Pigmentosum see Metabolic Diseases
Zellweger Syndrome see Metabolic Diseases