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C1 Esterase Inhibitor Deficiency
C1 Inhibitor Deficiency see C1 Esterase Inhibitor Deficiency
CADASIL
CAH see Congenital Adrenal Hyperplasia
CAIS see Androgen Insensitivity syndrome
CATCH 22 see 22q11 Deletions
CAVE see Pallister Hall syndrome
CBD see Corticobasal Degeneration
CBPS see Congenital Bilateral Perisylvian syndrome
CD40 Ligand Deficiency see Primary Immunodeficiencies
CDH see Congenital Dislocation and Developmental Dysplasia of the Hip
CFC syndrome see Cardiofaciocutaneous syndrome
CFIDS see Chronic Fatigue syndrome / Myalgic Encephalopathy
CFS/ME see Chronic Fatigue syndrome / Myalgic Encephalopathy
CGD see Chronic Granulomatous Disorder
ChAc see Neuroacanthocytosis disorders
CHARGE association see CHARGE syndrome
CHARGE syndrome
CHT see Thyroid Disorders
CIDP see Guillain-Barré syndrome
CINCA see Chronic infantile neurologic cutaneous and articular syndrome
CJD see Creutzfeldt-Jakob disease
CLL see Leukaemia and other allied blood disorders
CML see Leukaemia and other allied blood disorders
CMN see Congenital Melanocytic Naevi
CMT see Charcot-Marie-Tooth disease
CMV see Cytomegalovirus
COFS see Cockayne syndrome
COPD see Lung diseases
COX see Metabolic diseases and see Mitochondrial Cytopathies and related disorders
CPD-Choline Phosphotrasferase deficiency see Purine & Pyrimidine Metabolic diseases
CPS Deficiency see Urea Cycle Disorders
CPT I see Fatty Acid Oxidation Disorders
CPT II see Fatty Acid Oxidation Disorders
CVID see Primary Immunodeficiencies
California encephalitis, see Encephalitis
Calve-Perthes disease see Perthes disease
Canavan disease
Cancer
Carbamyl Phosphate Synthase see Urea Cycle Disorders
Carbohydrate Deficient Glycoprotein syndrome see Congenital Disorders of Glycosylation
Cardiofaciocutaneous syndrome
Cardiomyopathies
Carnitine Acylcarnitine Translocase deficiency see Fatty Acid Oxidation Disorders
Carnitine Palmitoyl-Transferase I (CPT I) deficiency see Fatty Acid Oxidation Disorders
Carnitine Palmitoyl-Transferase II (CPT II) deficiency see Fatty Acid Oxidation Disorders
Carpenter syndrome see Craniofacial Conditions
Cataplexy see Narcolepsy
Cataracts
Cataract-oligophrenia see Marinesco-Sjögren Syndrome
Catch 22 see 22q11 Deletion syndromes
Cauda Equina Lesion see Spinal Injuries
Cavernous Haemangioma see Vascular Birthmarks
Central Areolar Choroidal Dystrophy see Retinitis Pigmentosa
Central Core disease see Muscular Dystrophy and neuromuscular disorders
Central Hypoventilation syndrome see Congenital Central Hypoventilation syndrome
Centronuclear Myopathy see Myotubular Myopathy
Cerebellar Ataxia
Cerebellar Atrophy see Friedreich's Ataxia
Cerebellitis see Encephalitis
Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leucoencephalopathy see CADASIL
Cerebral Palsy
Cerebro-Acro-Visceral Early Lethality Multiplex syndrome see Pallister Hall syndrome
Cerebro-Oculo-Facio-Skeletal see Cockayne syndrome
Cerebro-Oculo-Muscular Dystrophy see Cortical malformations
Cerebroside Lipidosis see Gauchers disease
Cerebrotendinous Xanthomatosis see Metabolic diseases
Cerebrovascular Accident see Stroke
Cervical Dystonia see Dystonia
Charcot-Marie-Tooth disease
Chediak-Higashi syndrome see Albinism
Chiari Malformation see Syringomyelia
Choledochal Cyst see Liver disease
Chondroectodermal Dysplasia see Ellis-Van Creveld syndrome
Chorea-acanthocytosis see Neuroacanthocytosis disorders
Choreoancanthocytosis see Neuroacanthocytosis disorders
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 11 q- syndrome see Jacobsen 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 and Immune Dysfunction syndrome see Chronic Fatigue syndrome / Myalgic Encephalopathy
Chronic Fatigue syndrome / Myalgic Encephalopathy
Chronic Glomerulonephritis see Kidney disease
Chronic Granulomatous Disorder
Chronic Idiopathic Demyelinating Polyradiculoneuropathy see Guillain-Barré syndrome
Chronic Idiopathic Polyneuritis see Guillain-Barré syndrome
Chronic infantile neurologic cutaneous and articular syndrome
Chronic Inflammatory Demylenating Polyneuropathy see Guillain-Barré syndrome
Chronic Iridocyclitis see Arthritis (Juvenile Idiopathic)
Chronic Leukaemia see Leukaemia and other allied blood disorders
Chronic Lymphocytic Leukaemia see Leukaemia and other allied blood disorders
Chronic Mucocutaneous Candidiasis see Primary Immunodeficiencies
Chronic Myeloid Leukaemia see Leukaemia and other allied blood disorders
Chronic Obstructive Pulmonary disease see Lung diseases
Chronic Pancreatitis see Pancreatitis
Ciliary Dyskinesia see Primary Ciliary Dyskinesia
Citrullinaemia see Urea Cycle Disorders
Classical Lissencephaly see Cortical malformations
Classical Type Ehlers-Danlos syndrome see Ehlers-Danlos syndrome
Cleft Lip and/or Palate
Cleidocranial Dysostosis
Cloacal Exstrophy see Bladder Exstrophy
Cloverleaf Skull see Craniofacial Conditions
Clubfoot see Congenital Talipes Equinovarus
Clumsy Child syndrome see Dyspraxia
Coagulation Defects see Haemophilia, von Willebrand disease and other coagulation defects
Coarctation of the Aorta see Heart Defects
Coats disease
Cobalamin C/G Deficiency see Metabolic diseases
Cobblestone Lissencephaly see Cortical malformations
Cockayne syndrome
Coeliac disease
Coffin-Lowry syndrome
Cogan's Apraxia see Congenital Ocular Motor Apraxia
Cohen syndrome
Colorado tick fever see Encephalitis
Coloboma
Common Variable Immunodeficiency see Primary Immunodeficiencies
Communication Disorder see Speech and Language Impairment
Complete Androgen Insensitivity syndrome see Androgen Insensitivity syndrome
Complex Regional Pain syndrome see Reflex Sympathetic Dystrophy
Conduct Disorder see Conduct disorder and Oppositional Defiant disorder
Conduct disorder and Oppositional Defiant disorder
Cone Disorders see Vision Disorders in Childhood
Cone Dystrophy see Macular disease
Congenital abnormality of the iris see Aniridia
Congenital Absence of the Testes
Congenital Adrenal Hyperplasia
Congenital and Acquired Brain Damage and Dysfunction in Childhood
Congenital Aplastic Anaemia see Fanconi Anaemia
Congenital Aregenerative Anaemia see Diamond Blackfan syndrome
Congenital Asplenia see Primary Immunodeficiencies
Congenital Bilateral Perisylvian syndrome
Congenital Cataracts see Cataracts
Congenital Central Hypoventilation syndrome
Congenital Diaphragmatic Hernia see Diaphragmatic Hernia
Congenital Dislocation and Developmental Dysplasia of the Hip
Congenital Disorders of Glycosylation
Congenital Fibre Type Disproportion see Muscular Dystrophy and neuromuscular disorders
Congenital Heart Abnormality see Heart Defects
Congenital Hyperinsulinism
Congenital Hypothyroidism see Thyroid Disorders
Congenital Insensitivity/Indifference to Pain
Congenital Melanocytic Naevi
Congenital Microcephaly see Microcephaly
Congenital Mitochondrial Myopathy see Mitochondrial Cytopathies and related disorders and see Muscular Dystrophy and neuromuscular disorders
Congenital Muscular Dystrophy
Congenital Myasthenia see Myasthenia Gravis and other Myasthenic syndromes
Congenital Myopathies see Muscular Dystrophy and neuromuscular disorders
Congenital Nephrotic syndrome see Nephrotic syndrome
Congenital neutropenia see Neutropenia (Severe Chronic)
Congenital Ocular Motor Apraxia
Congenital Pancreatic Insufficiency with neutropenia and Growth Failure see Shwachman syndrome
Congenital porphyria see Porphyria
Congenital Pseudarthrosis of the Tibia see Lower Limb abnormalities
Congenital Short Femur see Lower Limb abnormalities
Congenital Suprabulbar Paresis see Worster-Drought syndrome
Congenital Talipes Equinovaruss
Congenital Telangiectatic Erythema see Bloom syndrome
Congenital Tibia Recurvatum see Lower Limb abnormalities
Conradi-Hunermann syndrome
Cooley's Anaemia see Thalassaemia Major (ß Thalassaemia)
Coprolalia Generalised Tic see Tourette syndrome
Cori disease see Glycogen Storage diseases
Corneal Dystrophies see Vision Disorders in Childhood
Cortical Blindness see Visual Impairment
Cortical Malformations
Cornelia De Lange syndrome
Corticobasal Degeneration
Costello syndrome
Cot Death
Cowden disease
Cowden syndrome see Cowden disease
Coxa Plana see Perthes disease
Cranial Dystonia see Dystonia
Craniocarpotarsal Dystrophy see Freeman Sheldon syndrome
Craniofacial Conditions
Craniopharyngioma see Pituitary Disorders
Craniostenosis see Craniofacial Conditions
Craniosynostosis see Craniofacial Conditions
Cranium Bifida see Spina Bifida
Cree encephalitis see Aicardi-Goutières syndrome
Crescentic Glomerulonephritis see Glomerulonephritis
Creutzfeldt-Jakob disease
Cri du Chat syndrome
Crigler-Najjar syndrome see Liver disease
Crohn's disease and Ulcerative Colitis
Crouzon disease
Cushing syndrome/disease
Cutaneous Porphyrias see Porphyria
Cutaneous mastocytosis see Mastocytosis
Cutis Hyperelastica see Ehlers-Danlos syndrome
Cutis Laxa
Cutis Marmorata Telangiectasia Congenita syndrome see M-CMTC syndrome
Cyclical neutropenia see Neutropenia (Severe Chronic)
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