MakingContact.org - Listing All Conditions

Listing all conditions - alphabetically

Below is an alphabetical list of medical conditions that we have entries for in MakingContact.org. The number of people looking for contact for each condition is shown in brackets. You can view/list those members by clicking the condition name. If there are UK support groups for that condition it is indicated thus .

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( 0 )
( 0 ) 0 All Conditions
( 0 ) 17 Ketosteroid Reductase Deficiency
( 12 ) 22q11 Deletion Syndromes
( 0 ) 3 Hydroxy Acyl CoA Dehydrogenase Deficiency
( 0 ) 3 Methylglutaconic Adicuria
( 0 ) 3-hydroxy-3-methylglutaric aciduria
( 1 ) 3-Hydroxy-3-methylglutaryl-CoA lyase Deficiency
( 1 ) 3rd Nerve Palsy of the Eye
( 0 ) 5 Alpha Reductase Deficiency
( 4 ) Aarskog Syndrome Aarskog-Scott Syndrome; Greig Syndrome; facial digital genital syndrome; facio genital dysplasia; shawl scrotum syndrome
( 2 ) Aase-Smith Syndrome
( 1 ) Abdominal Exstrophies Umbilical Hernia
( 15 ) Abdominal Migraine
( 0 ) Abdominal Wall Dystonia
( 1 ) Absence of the Septum Pellucidum
( 0 ) Acanthosis Nigricans
( 3 ) Achalasia
( 3 ) Achalasia-Addisonianism-Alacrimia Syndrome AAA;Allgrove Syndrome;Triple A
( 0 ) Achenbach Syndrome
( 0 ) Achondrogenesis
( 26 ) Achondroplasia
( 0 ) Achromatopsia
( 0 ) Acid Maltase Deficiency
( 1 ) Acne Acne Vulgaris
( 0 ) Acne Vulgaris
( 1 ) Acoustic Neuroma Vestibular Schwannoma
( 0 ) Acquired Aplastic Anaemia
( 0 ) Acquired Partial Lipodystrophy
( 0 ) Acrocallosal Syndrome Schinzel Acrocallosal Syndrome; Hallux Duplication; postaxial polydactyly;and absence of corpus callosum
( 0 ) Acrocephaloplysyndactyly
( 0 ) Acrocephalosyndactyly
( 0 ) Acrocephalosyndactyly II
( 0 ) Acrocephalosyndactyly III
( 0 ) Acrocephalosyndactyly VI
( 1 ) Acrodermatitis Enteropathica
( 0 ) Acrodysostosis
( 0 ) Acromegaloid Facial Appearance Syndrome AFA Syndrome; Thick Lips and Oral Mucosa
( 0 ) Acromegaly
( 2 ) Acromesomelic Dysplasia
( 0 ) Acropectorovertebral Dysplasia F Syndrome
( 0 ) ACTH Deficiency Isolated ACTH Deficiency
( 0 ) Actinic Prurigo
( 0 ) Actinomycosis
( 0 ) Acute Anterior Poliomyelitis
( 2 ) Acute Cerebellar Ataxia Zappert's Syndrome
( 1 ) Acute Cholinergic Dysautonomia
( 15 ) Acute Disseminated Encephalomyelitis ADEM
( 1 ) Acute Haemorrhagic Oedema of Infancy Seidlmayer's Disease,Finkelstein's Disease,Acute Haemorrhagic Edema of Infancy
( 0 ) Acute Infective Demyelisation
( 0 ) Acute Inflammatory Polyneuropathy
( 3 ) Acute Intermittent Porphyria
( 0 ) Acute Pityriasis Lichenoides
( 0 ) Acute Zonal Occult Outer Retinopathy AZOOR
( 8 ) Adams-Oliver Syndrome Limbs/Scalp Defects;Adams-Olver Type
( 6 ) Addison Disease Adrenal Hypoplasia
( 0 ) Adducted Thumbs Syndrome
( 1 ) Adenosine Deaminase Deficiency ADA
( 0 ) Adenylosuccinate Lyase Deficiency
( 2 ) Adie Syndrome Holmes-Adie Syndrome
( 3 ) Adrenoleukodystrophy Adrenomyeloneuropathy,Schilder's Disease,Sudanophilic leukodystrophy, ALD
( 0 ) Adrenomyelopathy
( 0 ) Adynamic Oesphagus
( 1 ) Agammaglobulinaemia
( 0 ) Age related macular degeneration
( 57 ) Agenesis of the Corpus Callosum Dysgenesis of the Corpus Callosum,Agenesis of the Corpus Callosum + Choroid Plexus Lipoma
( 2 ) Agoraphobia
( 0 ) Agyria
( 6 ) Aicardi Syndrome
( 5 ) Aicardi-Goutieres Syndrome
( 0 ) ALA Dehydratase Deficiency
( 1 ) Alagille Syndrome
( 4 ) Albinism Piebaldism,Oculocerebral Syndrome with Hypopigmentation
( 27 ) Albright Hereditary Osteodystrophy AHO;Albright's Hereditary Osteodystrophy
( 2 ) Alcaptonuria
( 0 ) Aldosteronism
( 5 ) Alexander Disease
( 1 ) Alkaptonuria
( 3 ) Allan Hurndon Dudley syndrome Allen Hurndon syndrome
( 3 ) Allergic Colitis
( 1 ) Allergic Enteropathy
( 16 ) Allergies Milk Intolerance
( 0 ) Alopecia Congenital Hypotrichosis;
( 0 ) Alopecia Areata
( 0 ) Alopecia Mucinosa Follicular Mucinosis
( 0 ) Alopecia-Mental Retardation Syndrome
( 9 ) Alpers Disease
( 0 ) Alpha 1 - Antitrypsin Deficiency (Adult)
( 1 ) Alpha 1 - Antitrypsin Deficiency (Paediatric)
( 0 ) Alpha Amino Adipic Aciduria
( 2 ) Alpha Thalassaemia ATR-16,ATR-X,Mental Retardation on the X Chromosome
( 1 ) Alpha-feto protein deficiency
( 2 ) Alports Syndrome Alport Syndrome
( 0 ) Alström Syndrome Alstrom Syndrome
( 2 ) Alternating Hemiplegia Alternating Hemiplegic Migraine
( 0 ) Alveolar Capillary Dysplasia
( 1 ) Alzheimer's Disease
( 0 ) Ambidexterous
( 1 ) Ambiguous Genitalia
( 2 ) Amelogenesis Imperfecta Trichodento-Osseous
( 0 ) Ametropia
( 0 ) Amnesia
( 0 ) Amnesic Syndrome
( 2 ) Amniotic Band Syndrome
( 0 ) Amputation
( 0 ) Amyloidosis
( 0 ) Anaemias
( 1 ) Anal Atresia
( 5 ) Anal Stenosis
( 3 ) Anaphylaxis Angioneurotic Oedema
( 2 ) Andermann Syndrome Charlevoix Disease
( 0 ) Andrade Syndrome Neuropathic Amyloidosis
( 3 ) Androgen Insensitivity Syndrome Testicular Feminisation;Incomplete Androgen Insensitivity;Complete Androgen Insensitivity;CAIS;Partial Androgen Insensitivity Syndrome;PAIS;Androgen Resistance Syndrome; Feminisation Syndrome;Feminising Testes Syndrome;Male Pseudo-Hermaphroditism;Goldberg
( 5 ) Anencephaly
( 0 ) Aneurysmal Bone Cyst
( 32 ) Angelman Syndrome
( 0 ) Angina
( 5 ) Angina Bullosa Haemorrhagica oral blisters;oral blood blisters
( 0 ) Angiokeratoma
( 0 ) Angiomyolipoma
( 0 ) Anhidrotic Ectodermal Dysplasia
( 9 ) Aniridia Congenital Abnormality of the Iris
( 1 ) Ankylosing Spondylitis
( 0 ) Anonychia-Onychodystrophy with Hypoplasia or Absence/Distal Phal
( 4 ) Anophthalmia Heminasal Aplasia
( 0 ) Anorchia (Acquired)
( 1 ) Anorchidism
( 1 ) Anorexia Nervosa
( 0 ) Anosmia Congenital Anosmia
( 0 ) Anoxia
( 3 ) Anterior Anus with Vestibular Fistula
( 0 ) Anterior Horn Cell Hypoplasia
( 0 ) Anti K Antibodies
( 0 ) Anti-Jo-1 Syndrome
( 9 ) Antiphospholipid Syndrome Hughes Syndrome
( 0 ) Antithrombin Deficiency Antithrombin III Deficiency
( 0 ) Antley Bixler Syndrome
( 6 ) Anxiety Disorders School Phobia
( 0 ) Aortic-Left Ventricular Tunnel Aorto Left Ventricular Tunnel; ALVT; aortico-left ventricular tunnel
( 4 ) APECED Syndrome
( 0 ) Apendoma
( 1 ) Apert Syndrome
( 4 ) Aphasia
( 13 ) Aplasia Cutis Cutis Aplasia Congenita
( 0 ) Aplastic Anemia Hyoplastic Anaemia
( 1 ) Apnoea
( 0 ) Arboviral Encepalites
( 0 ) Arginase Deficiency
( 3 ) Argininosuccinic Aciduria
( 2 ) Arm or Hand Deficiencies
( 32 ) Arnold Chiari Malformation Chiari Malformation
( 0 ) Aromatic Amino Acid Decarboxylase Deficiency
( 0 ) Arrhythmia
( 11 ) Arterial Calcification of Infancy Occlusive Infantile Arteriopathy,Arteriopathy - Occlusive Infantile
( 0 ) Arterial Tortuosity Syndrome
( 1 ) Arteriovenous Malformation
( 5 ) Arthritis Enteropathic Arthritis,Lumbar Spondylosis
( 31 ) Arthritis (Juvenile Idiopathic) Stills Disease
( 14 ) Arthrogryposis Amyoplasia Congenita,Arthrogryposis Multiplex Congenita
( 0 ) Arthrogryposis Renal Dysfunction and Cholestasis
( 0 ) Asbestosis
( 1 ) Aspartylglycosaminuria
( 1 ) Assisted Ventilation
( 22 ) Asthma
( 0 ) Astrocytoma
( 3 ) Ataxia (undefined)
( 3 ) Ataxia with Oculomotor Apraxia
( 1 ) Ataxia-Telangiectasia Louis Bar Syndrome
( 2 ) Atopic Eczema
( 0 ) Atrial Septal Defect
( 0 ) Atrophoderma Vermiculata
( 167 ) Attention Deficit Hyperactivity Disorder AD(H)D,ADD,Attention Deficit Disorder,ADHD,Hyperkinetic Disorder
( 0 ) Atypical Haemolytic Uraemic Syndrome
( 0 ) Auditory Memory Loss
( 3 ) Auditory Neuropathy
( 316 ) Autistic Spectrum Disorders including Aspergers Syndrome autism,aspergers syndrome,asperger,asd
( 2 ) Auto-Immune Thyroid Deficiency
( 2 ) Autoimmine Neutropenia
( 0 ) Autoimmune Disorders
( 0 ) Autoimmune Enteropathy
( 0 ) Autoimmune Haemolytic Anaemia
( 0 ) Autoimmune Inflammatory Disease
( 3 ) Autoimmune Polyendocrinopathy-Candidiasis-Ectoderm
( 0 ) Autoimmune Proliferative Syndrome
( 0 ) AutoimmuneVasculitis with Cryoglobulinaemia
( 0 ) Autonomic Neuropathy
( 3 ) Avascular Necrosis Osteonecrosis
( 0 ) Axenfeld Syndrome Axenfeld Anomaly;Axenfeld-Rieger Syndrome;Rieger Syndrome
( 0 ) Axenfeld-Schürenberg Syndrome Cyclic Oculomotor Paralysis;Congenital Cyclic Oculomotor Paralysis
( 2 ) Back Pain
( 1 ) Baller-Gerold Syndrome craniosynostosis-radial aplasia syndrome
( 4 ) Bannayan-Riley-Ruvalcaba Syndrome Bannayan-Zonana Syndrome;Riley-Smith Syndrome;Ruvalcaba Myhre-Smith syndrome;Bannayan Syndrome;Macrocepahly; Multiple Lipomas and Hemangiomata;
( 0 ) Barber-Say Syndrome
( 7 ) Bardet-Biedl Syndrome Laurence-Moon-Bardet-Beidl Syndrome, Adipogenital Retinitis Pigmentosa-Polydactyly
( 0 ) Barlow Syndrome
( 0 ) Barre-Lieou Syndrome
( 1 ) Barth Syndrome 3 Methylglutaconic Aciduria Type II
( 0 ) Bartsocas-papas syndrome Popliteal Pterygium syndrome- Lethal Type
( 0 ) Bartter Syndrome aldosteronism-normal blood pressure syndrome;Pseudo-Bartters;aldosteronism with hypokalemic alkalosis;juxtaglomerular hyperplasia syndrome
( 1 ) Bassen-Kornzweig syndrome Abetalipoproteinemia;Acanthocytosis; Apolipoprotein B deficiency
( 1 ) Batten Disease
( 0 ) Beals I Syndrome Auriculoosteodysplasia;Beals syndrome
( 2 ) Beals II Syndrome Congenital Contractural Arachnodactyly;Beals Hecht Syndrome
( 0 ) Becker Muscular Dystrophy
( 7 ) Beckwith-Wiedemann Syndrome Neonatal hypoglycaemia, visceromegaly, hemihypertrophy,Exomphalos-Macroglossia-Gigantism
( 16 ) Behavioural Difficulties Emotional Difficulties;Episodic Dyscontrol Syndrome
( 0 ) Behçet Syndrome Touraine Apthosis;Halushi-Behcet Syndrome;Adamantiades-Behcets;Oculobuccogenital syndrome
( 0 ) Behrs Hereditary Optic Atrophy Behr Syndrome
( 0 ) Bells Palsy
( 0 ) Belly Dancer Diskinesia
( 0 ) Benign Essential Tremor Essential Tremor
( 0 ) Benign Hereditary Chorea Benign Familial Chorea
( 11 ) Benign Intracranial Hypertension Pseudotumour Cerebri; Idiopathic Intracranial Hypertension
( 1 ) Benign Neonatal Familial Convulsions
( 0 ) Benign Paroxysmal Positonal Vertigo
( 4 ) Benign Paroxysmal Tonic Upward Gaze
( 5 ) Benign Paroxysmal Torticollis
( 10 ) Benign Paroxysmal Torticollis in Infancy
( 0 ) Benign Spinal Cord Tumour Spinal Cord Tumour
( 0 ) Benzodiazepines in Pregnancy
( 0 ) Berardinelli Lipodystrophy
( 0 ) Bernard-Soulier Syndrome
( 3 ) Best's Disease Bests Disease
( 7 ) Bethlem Myopathy Benign Congenital Muscular Dystrophy
( 0 ) Bicoronal Synostosis
( 0 ) Bicuspid Aortic Valve Disorder BAVD
( 2 ) Biliary Atresia
( 0 ) Biliary Hypoplasia
( 0 ) Binswanger Disease
( 0 ) Biotin Deficiency
( 0 ) Biotinidase deficiency
( 13 ) Bipolar Disorder Manic Depression, Bipolar Affective disorder Bi Polar Disorder
( 1 ) Bipolar Disorder Type II Bi polar Disorder type II
( 2 ) Birth Trauma
( 1 ) Birthmarks/Naevus Naevus;Fragmented Mole;Congenital Giant Naevus
( 0 ) Bladder Disease
( 3 ) Bladder Exstrophy exstrophy epispadias complex
( 0 ) Blepharospasm
( 3 ) Blood Disorders
( 0 ) Bloom Syndrome Bloom-Torre-Mackacek
( 6 ) Blount Barber Syndrome Blounts Disease;Tibia vara
( 2 ) Blue Rubber Bleb Syndrome
( 0 ) Body Dysmorphic Disorder
( 0 ) Bone Disorders
( 0 ) Bone Tumour
( 0 ) Borjeson Syndrome Borjeson-Forssman-Lehmann Syndrome
( 0 ) Bornholm Syndrome Myalgia Epidemic
( 0 ) Bowen Disease
( 1 ) BPES Blepharophimosis Syndrome,Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome
( 0 ) Brachycephaly Bicoronal Synostosis
( 1 ) Brachytelaphangic Chondrodysplasia Punctata
( 0 ) Bradycardia associated with heart block
( 2 ) Brain Aneurysm
( 2 ) Brain Cysts Arachnoid Cysts;Periventricular Cysts
( 17 ) Brain Damage/Injury (acquired and congenital)
( 5 ) Brain Disorders (inc Head Injury)
( 0 ) Brain Stem Atrophy
( 1 ) Brain Tumour PNET;Apendeoma;Pilocystic Astrocytoma
( 0 ) Branchial Cleft Carcinoma
( 0 ) Branchial Cleft Cyst
( 2 ) Branchio-Oculo-Facial Syndrome
( 1 ) Branchio-Oto-Renal Syndrome
( 1 ) Breath Holding
( 0 ) Bright's Disease Acute Glomerulonephritis
( 2 ) Brittle Asthma
( 11 ) Brittle Bone Diseases Osteogenesis Imperfecta
( 0 ) Brody disease
( 3 ) Bronchial Malacia
( 1 ) Bronchiectasis
( 2 ) Bronchiolitis Obliterans
( 1 ) Bronchiolitis Obliterans with Organizing Pneumonia BOOP
( 3 ) Broncho Pulmonary Dysplasia BPD
( 0 ) Brown Bowel Syndrome
( 0 ) Brown Syndrome
( 0 ) Brown-Séquard Syndrome
( 0 ) Brown-Vialetto-Van-Laere Syndrome
( 2 ) Brugada Syndrome
( 0 ) Brutons's Disease x-linked agammaglobulinaemia;XLA
( 1 ) Bruxism Teeth Grinding
( 0 ) Budd-Chiari Syndrome
( 0 ) Buerger Disease Occlusive Peripheral Vascular Disease,Thromboangiitis Obliterans
( 3 ) Bulbar Palsy
( 0 ) Bulimia Nervosa
( 0 ) Bull's Eye Dystrophy Concentric Annular Macular Dystrophy,Bull's eye macular dystropy,Maculopathy - Bull's eye
( 0 ) Bullouos Ichthyosiform Erythroderma
( 0 ) Bullous Ichthyosis
( 0 ) Bullous Pemphigoid
( 0 ) Burning Mouth Syndrome
( 0 ) Burns Scalds
( 0 ) Buschke Ollendorff Syndrome
( 1 ) C-Trigonocephaly Opitz Trigonocephaly Syndrome;C Syndrome;Trigonocephaly Syndrome
( 1 ) C1 Esterase Inhibitor Deficiency Hereditary Angiodemia;Cold weather Angiodema;Angioedema (Hereditary)
( 0 ) C1q deficiency
( 0 ) C1r Deficiency
( 0 ) C9 Deficiency
( 0 ) Caffey Disease Caffey Silverman Syndrome
( 0 ) Calcific Band Keratopathy
( 0 ) Calcinosis-Raynaud's Phenomenon-Sclerodactyly-Tela Calcinosis-Raynaud's Phenomenon-Esophaeal Involvement- Sclerodactyly-Telangiectasis,CREST,CRST
( 0 ) Camptomelic Dysplasia Campomelic Dysplasia
( 2 ) Camurati Englemann Syndrome Englemann Syndrome;Progressive Diaphyseal Dysplasia
( 1 ) Canavan Disease
( 1 ) Cancer
( 0 ) Cantu Syndrome Hypertrichotic Oseochondrodysplasia
( 1 ) Carbohydrate Deficient Glycoprotein Syndrome
( 0 ) Carbon Monoxide Poisoning
( 0 ) Carcinoid Disease Carcinoid Syndrome
( 4 ) Cardiofaciocutaneous Syndrome CFC Syndrome
( 1 ) Cardiomyopathies HCM,Dilated Cardiomyopathy,Hypertrophic Cardiomyopathy
( 1 ) Carney Syndrome Carney Triad;Carney Complex;Lamb Syndrome;Name Syndrome
( 0 ) Carnitine
( 0 ) Caroli Disease
( 0 ) Carp Mouth Syndrome Chromosome 18q
( 0 ) Carpal Tarsal Osteolysis Idiopathic Carpal Tarsal Osteolysis;multicentric osteolysis
( 0 ) Carpal Tunnel Syndrome
( 5 ) Carpenter Syndrome
( 0 ) Castleman Disease
( 0 ) Cat Eye Syndrome
( 15 ) Cataracts
( 5 ) Catel-Manzke Syndrome Pierre Robin Syndrome with Hyperphalangy & Clinodactyly
( 0 ) Cauda Equina Lesion
( 5 ) Caudal Regression Syndrome Mermaid Syndrome;Caudal Dysplasia;Caudal Dysgenesis
( 0 ) Cavernous Haemangioma Cavernoma
( 0 ) Cavum Septum Pellucidum
( 0 ) Cellulitis
( 2 ) Central Auditory Processing Disorder
( 0 ) Central Cleft of Lip/Encephalocele
( 0 ) Central Core Myopathy
( 0 ) Central Neural Myopathy
( 0 ) Cephalic Disorders Acephaly;Colpocephaly;Exencephaly;Micrencephaly;Octocephaly;Iniencephaly
( 8 ) Cerebellar Ataxia
( 7 ) Cerebellar Hypoplasia Cerebellar Agenesis;Cerebellar Aplasia;Hypoplasia of the Cerebellum;Cerbellar Dysgenesis;Dysgenesis of the Cerebellum
( 0 ) Cerebellar Mutism
( 3 ) Cerebellar Vermis Hypoplasia
( 0 ) Cerebral Aneurysm
( 1 ) Cerebral Arteriovenous Malformation Arteriovenous Malformation of the Brain;Cerebral AVM; Brain AVM
( 1 ) Cerebral Ataxia Idiopathic Cerebellar Ataxia
( 6 ) Cerebral Atrophy
( 6 ) Cerebral Autosomal Dominant Arteriopathy with Subc CADASIL
( 0 ) Cerebral Hernia
( 0 ) Cerebral Hypertension
( 0 ) Cerebral Hypotension
( 0 ) Cerebral Infarct
( 0 ) Cerebral Lipidosis
( 0 ) Cerebral Malacoplakia
( 167 ) Cerebral Palsy
( 0 ) Cerebro-Oculo-Muscular Dystrophy
( 5 ) Cerebrocostomandibular Syndrome Smith-Theiler-Schachenmann Syndrome;CCM Syndrome; CCMS;Rib Gap Defects with Micrognathia
( 0 ) Cerebrohepatorenal
( 0 ) Cerebrotendinous Xanthomatosis
( 0 ) Cervical Cancer
( 2 ) Cervical Spondylosis
( 0 ) Channelopathies
( 19 ) Charcot-Marie-Tooth Disease Motor & Sensory Neuropathy,Hereditary Motor & Sensory Neuropathy,Peroneal Muscular Dystrophy,Peroneal Muscular Atrophy,CMT,Congenital Axonal Neuropathy
( 5 ) CHARGE Association "Colomba;Heart Defect; Atresia Choanae; Restricted Growth and Development; Genital Hypoplasia; Ear Anomalies"
( 0 ) Charles Bonnet Syndrome Bonnet Syndrome
( 1 ) Chatterbox Syndrome
( 0 ) Chediak-Higashi Syndrome Oculocutaneous albinism
( 2 ) Cherubism Fibrous Jaw Dysplasia
( 0 ) Chilaiditi Syndrome
( 0 ) CHILD syndrome congenital hemidysplasia with ichthyosiform erythroderma and limb defects
( 1 ) Childhood Illness Erysiplers;Croup;febrile convulsions;german measles;glue ear;impetigo;mumps;scarlet fever;threadwork;whooping cough
( 0 ) Chloride Shunt Syndrome Gordon Syndrome;Pseudohypoaldosteronism
( 2 ) Choanal Atresia
( 0 ) Cholangitis Primary Sclerosing Cholangitis
( 0 ) Cholestasis
( 0 ) Cholesteatoma
( 0 ) Cholesteryl Ester Transfer Protein Deficiency
( 1 ) Chondromalacia Patellae
( 2 ) Chorioathetosis Paroxysmal Kinesigenic Choreoathetosis;Paroxysmal Kinesogenic Dyskinesia;Paroxysmal Dystonic Choreoathetosis
( 0 ) Chorioretinopathy and Pituitary Dysfunction CPD Syndrome
( 1 ) Choroid Plexus Cysts
( 0 ) Choroideremia
( 0 ) Christmas Disease
( 4 ) Chromosome 1 Disorder
( 1 ) Chromosome 10 Disorder
( 1 ) Chromosome 11 Disorder
( 9 ) Chromosome 12 Disorder
( 0 ) Chromosome 13 Disorder
( 5 ) Chromosome 14 Disorder
( 3 ) Chromosome 15 Disorder
( 0 ) Chromosome 16 Disorder
( 5 ) Chromosome 17 Disorder
( 0 ) Chromosome 19 Disorder
( 3 ) Chromosome 2 Disorder
( 3 ) Chromosome 20 Disorder
( 2 ) Chromosome 21 Disorder
( 1 ) Chromosome 22 Disorder
( 3 ) Chromosome 3 Disorder
( 4 ) Chromosome 4 Disorder
( 5 ) Chromosome 5 Disorder
( 3 ) Chromosome 6 Disorder
( 0 ) Chromosome 7 Disorder
( 5 ) Chromosome 8 Disorder
( 1 ) Chromosome 9 Disorder
( 14 ) Chromosome Disorders
( 0 ) Chromosome Marker
( 0 ) Chromotosia Congenita
( 3 ) Chronic Actinic Dermatitis photosensitivity dermatitis/actinic reticuloid syndrome (PD/AR)
( 0 ) Chronic Advancing Peripheral Axonal Neuropathy
( 1 ) Chronic Bullous Disease of Childhood Linear IgA Dermatosis;LAD;Chronic Bullous Dermatitis of Childhood
( 0 ) Chronic Eosinophilic Pneumonia
( 0 ) Chronic Eustacian Tube Dysfunction
( 0 ) Chronic Functional Abdominal Pain
( 0 ) Chronic Gastritis
( 0 ) Chronic Glomerulonephritis
( 0 ) Chronic Granulomatous Disorder Bronchocentric Granulomatous Disease;CGD
( 0 ) Chronic Hereditary Polyneuropathy
( 0 ) Chronic Infantile Neurological Cutaneous Articular CINCA; Neonatal Multisystem Inflammatory disease; NOMID
( 0 ) Chronic Inflamatory Demyelinating Polyneuropathy Demyelination Peripheral Neuropathy
( 3 ) Chronic Intestinal Pseudo Obstruction
( 0 ) Chronic Mucocutaneous Candidiasis
( 1 ) Chronic Obstructive Pulmonary Disease COPD
( 5 ) Chronic Pain Syndrome
( 1 ) Chronic Pancreatitis
( 0 ) Chronic Partial Denervation
( 0 ) Chronic Progressive External Ophthalmoplegia
( 2 ) Chronic Recurrent Multifocal Osteomyelitis CRMO
( 0 ) Chronic Tic Disorder
( 0 ) Churg-Strauss Syndrome
( 0 ) Chylomocron Retention Disease
( 0 ) Ciliary Dyskinesia
( 3 ) Citrullinaemia
( 11 ) Cleft Lip and/or Palate Cleft Mandible
( 0 ) Cleft Split of Cerebellum
( 12 ) Cleidocranial Dysplasia Marie Sainton Syndrome;Cleidocranial Dysostosis
( 1 ) Cloacal Exstrophy
( 0 ) Cloverleaf Syndrome Kleeblattschsedel Syndrome;Cloverleaf skull
( 2 ) Club Foot
( 2 ) Coarctation of the Aorta
( 3 ) Coats' Disease Exudative Retinitis
( 0 ) Cochlear Implants
( 3 ) Cockayne Syndrome Cockayne Neills Dwarfism
( 2 ) Coeliac Disease Sprue Syndrome;Gluten Enteropathy
( 1 ) Coffin-Lowry Syndrome
( 4 ) Coffin-Siris Syndrome Dwarfism-onychodysplasia;Fifth Digit Syndrome
( 0 ) Cogan's Dystrophy Cogan's Syndrome III
( 1 ) Cogan's I Syndrome Keratitis-Deafness
( 1 ) Cohen Syndrome
( 0 ) Cold Haemagglutinin Disease
( 3 ) Colitis Lymphocytic Colitis
( 0 ) Collodian Baby
( 10 ) Coloboma
( 0 ) coloboma & cyst on the cerebellum
( 2 ) Colostomy
( 0 ) Colourblindness
( 0 ) Coma Persistent Vegetative State
( 1 ) Common Variable Immunodeficiency CVID
( 0 ) Complement Deficiencies
( 0 ) Complement Receptor Deficiencies
( 0 ) Complex 1 Deficiency
( 0 ) Complex Pulmonary Atresia
( 25 ) Conduct Disorder and Oppositional Defiance Disorder
( 0 ) Condylar Hyperplasia
( 1 ) Cone Dystrophy Combined Cone-Rod Degeneration;Progressive Cone-Rod Degeneration;Cone-Rod Dystrophy;Retinal Cone Degeneration;Retinal Cone Dystrophy;Retinal Cone-Rod Dystrophy
( 1 ) Congenital Absence of the Testes Anorchidism,Absence of Testes
( 5 ) Congenital Adrenal Hyperplasia Adrenal Hyperplasia;CAH; adrenogenital syndrome
( 0 ) Congenital Adrenal Hypoplasia
( 1 ) Congenital Asplenia
( 19 ) Congenital Bilateral Perisylvian Syndrome
( 0 ) Congenital Central Hypoventilation Syndrome Central Hypoventilation Syndrome;Ondine's; Ondine's Curse;CCHS; Congenital Alveolar Hypoventilation;Congenital Failure of Autonomic Control of Respiration Idiopathic Alveolar Hypoventilation;Primary Alveolar Hypoventilation;Primary Central Hypoventilatio
( 1 ) Congenital Chloride Diarrhoea
( 9 ) Congenital Cystic Adenomatoid Malformation CCAM
( 31 ) Congenital Dislocation of the Hip CDH
( 2 ) Congenital Disorders of Glycosylation CDG,Carbohydrate Deficient Glycoprotein syndromes
( 4 ) Congenital Dyserythropiectic Anaemia Dyserythropoiectic Anaemia
( 0 ) Congenital Dyserythropoietic Anemia Type II
( 2 ) Congenital Fibre Type Disproportional Myopathy
( 0 ) Congenital Generalized Fibromatosis
( 1 ) Congenital Horseshoe Kidney
( 1 ) Congenital Hyperinsulinism Persistent Hyperinsulinism Hypoglycaemia of Infancy;PHHI; Nesidioblastosis
( 12 ) Congenital Insensitivity to Pain
( 0 ) Congenital Laryngeal Stricture
( 7 ) Congenital Lobar Emphysema
( 0 ) Congenital Lymphoedema Primary Lymphoedema
( 17 ) Congenital Macrodactyly
( 1 ) Congenital Melanocytic Naevi
( 6 ) Congenital Muscular Dystrophy Oculocerebromuscular
( 11 ) Congenital Neutropenia Infantile Agranulocytosis;Cyclical Neutropenia;Neutropenia;Kostmann's Disease
( 14 ) Congenital Ocular Motor Apraxia Oculomotor Apraxia;Saccade initiation;Cogan's apraxia
( 0 ) Congenital Porphyria
( 3 ) Congenital Pulmonary Lymphangiectasia Pulmonary Lymphangiectasia
( 5 ) Congenital Stationary Night Blindness
( 1 ) Congenital Varicella
( 0 ) Congenital Vertical Talus
( 0 ) Conn Syndrome
( 0 ) Connective Tissue Disorders
( 14 ) Conradi-Hunermann Syndrome Chondrodysplasia Punctata (Rhizomelic Type),Rhizomelic Chondrodysplasia Punctata
( 0 ) Conversion Disorder
( 0 ) Copper Poisoning
( 0 ) Cori Type III Glycogenosis
( 4 ) Corneal Dystrophy
( 10 ) Cornelia De Lange Syndrome Status Degenerativus Typus Amstelodamensis,Amsterdam Dwarfism,Brachman de Lange,Status Degenerativus Typus Amstelodamensis,De Lange I Syndrome
( 2 ) Cortical Dysplasia
( 3 ) Corticobasal Degeneration
( 1 ) Costello Syndrome
( 2 ) Costochondritis
( 2 ) Cot Death
( 0 ) Cowden Syndrome Multiple Hamartoma Syndrome
( 0 ) Craniodiaphyseal Dysplasia
( 2 ) Craniofacial Cleft (Tessier Scale)
( 5 ) Craniofacial Conditions
( 0 ) Craniofrontonasal Dysplasia Craniofrontal Dysostosis
( 0 ) Craniometaphyseal Dysplasia
( 0 ) Craniopharangioma
( 1 ) Craniostenosis
( 29 ) Craniosynostosis
( 0 ) Creutzfeld-Jacob Disease CJD,Creutzfeld Jacob
( 13 ) Cri du Chat Syndrome Chromosome 5p,Lejeune Syndrome
( 0 ) Crigler-Najjar Syndrome Congenital Familial Non-Haemolytic Jaundice
( 0 ) Crohn's Disease Colitis
( 0 ) Cronkite-Canada Syndrome
( 0 ) Crosslaterality
( 2 ) Crouzon Syndrome
( 0 ) Cryoglobulinaemia
( 4 ) Currarino Syndrome Currarino Triad
( 0 ) Curry-Jones Syndrome
( 0 ) Cushing Syndrome Cushing Disease
( 2 ) Cutis Laxa elastolysis
( 8 ) Cutis Marmorata Telangiectatica Congenita Macrocephaly, Cutis Marmorata Telangiectatica Congenita
( 5 ) Cyclical Vomiting
( 0 ) Cylindroma Adenoid Cystic Carcinoma
( 0 ) Cystic Adenomatoid Malformation Type I CAM I
( 0 ) Cystic Angiomatosis
( 9 ) Cystic Fibrosis Cystic Fibrosis
( 26 ) Cystic Hygroma
( 1 ) Cystic Lymphoma
( 0 ) Cystinosis
( 1 ) Cystinuria
( 1 ) Cytochrome C Oxidase Deficiency COX Deficiency
( 14 ) Cytomegalovirus CMV
( 6 ) DAMP Deficits in Attention; Motor control and Perception
( 0 ) Dancing Eye Syndrome Opsoclonus-myoclonus,Kinsbourine Syndrome,Myoclonic Encephalopathy
( 17 ) Dandy Walker Syndrome
( 2 ) Darier Disease
( 1 ) De Barsy Syndrome
( 4 ) de Grouchy Syndrome I 18p- syndrome;18p deletion syndrome;chromosome 18p monosomy;del(18p) syndrome;deletion 18p syndrome; monosomy 18p;partial monosomy 18p
( 6 ) De Grouchy Syndrome II 18q- syndrome; 18q deletion syndrome;chromosome 18q;del(18q) syndrome;deletion 18q syndrome;monosomy 18q;partial monosomy 18q
( 3 ) Deaf Blind/Rubella Damaged Congenital Rubella Syndrome,Rubella
( 0 ) Deafblindness
( 20 ) Deafness
( 0 ) Degos Disease Kohlmeier-Degos Disease,Degos-Kohlmeier Disease,Malignant Atrophic Papulosis
( 2 ) Dejerine Sottas Disease Progressive Hypertropic Interstitial Polyneuropathy
( 0 ) Dementia
( 0 ) Dementias
( 0 ) Denny-Brown Syndrome Hereditary Sensory Neuropathy Type I,HSN1
( 0 ) Dent's Disease
( 1 ) Dentato-Olivary Dysplasia
( 0 ) Dentatorubral-pallidoluysian Atrophy DRPLA
( 1 ) Dentinogenesis Imperfecta
( 9 ) Depression
( 3 ) Dercum Disease
( 0 ) Dermatitis Herpetiformis
( 0 ) Dermatomyositis and Polymyositis Juvenile Dermatomyositis
( 0 ) Desmin-Related Myopathy Desminopathy
( 1 ) Desmoid Tumour Musculo-aponeurotic fibromatosis;aponeurotic fibromatosis;agressive fibromatosis
( 0 ) Desquamative Interstitial Pneumenitis Interstitial Pneumonitis
( 58 ) Developmental Delay
( 3 ) Developmental Motor Co-ordination Disorder
( 24 ) Developmental Verbal Dyspraxia
( 1 ) Devic Disease Neuromyelitis Optica
( 0 ) DHPR Deficiency Phenylketonuria II;Dihydropteridine Reductase Deficiency; Atypical PKU
( 9 ) Diabetes Insipidus
( 9 ) Diabetes Mellitus
( 0 ) Diabetic Neuropathy
( 9 ) Diamond Blackfan Anaemia Syndrome Blackfan Diamond Syndrome,Congenital Aregenerative Anaemia,Erythrogenesis Imperfecta,Primary Red Cell Anaemia,Hypoplastic Congenital Anaemia,Idiopathic Erythroblastopenia
( 10 ) Diaphragmatic Hernia Congenital Diaphragmatic Hernia
( 4 ) Diastasis Symphysis Pubis Symphysis Pubic Dysfunction
( 2 ) Diastematomyelia
( 0 ) Diastrophic Displasia Diastrophic Dwarfism
( 0 ) Diencephalic Syndrome Diencephalic Tumor of Infancy
( 14 ) DiGeorge Syndrome
( 0 ) Digestive Disorders
( 0 ) Dihydropyrimidine Dehydrogenase Deficiency
( 0 ) Diogenes Syndrome
( 0 ) Discitis
( 0 ) Disintegrative Psychosis Childhood Disintegrative Disorder,Heller Syndrome
( 0 ) Distal Muscular Dystrophy Markesbery distal myopathy
( 1 ) Diverticulitis
( 0 ) Diverticulum of the Left Ventrical
( 0 ) Divry-Van Bogaert Syndrome Angiomatosis Diffuse Corticomeningeal,Bogaert- Divry Syndrome
( 4 ) Donnai-Barrow Syndrome
( 0 ) Door Syndrome
( 0 ) Double Inlet Single Ventricle Condition
( 0 ) Double Inlet Ventricle
( 79 ) Down's Syndrome Trisomy 21,Chromosome 21 Trisomy, downs
( 19 ) Down's Syndrome with Heart Defect downs with heart defect
( 0 ) Drash Syndrome Denys-Drash Syndrome
( 6 ) Dravet Syndrome
( 0 ) Dressler Syndrome
( 0 ) Drugs (adverse reactions) Tetracyclene (adverse reaction)
( 0 ) Drusen Disease
( 7 ) Duane Retraction Syndrome Duane Syndrome;DRS
( 2 ) Dubowitz Syndrome
( 24 ) Duchenne Muscular Dystrophy dmd
( 1 ) Duncan Syndrome X-Linked Proliferative Syndrome; XLP;Purtillo's syndrome
( 0 ) Dupuytren Contracture
( 1 ) Dyggve-Melchior-Clausen Syndrome
( 0 ) Dyke Davidoff-Masson Syndrome Cerebral Hemiatrophy,DDM
( 1 ) Dysarthria
( 2 ) Dyscalculia
( 1 ) Dyschondrosteosis Leri-Weill Syndrome
( 1 ) Dysembryoplastic Neuroepithelial Tumour
( 1 ) Dysequilibrium Syndrome Cerebellar Disorder; Nonprogressive; with Mental Retardation
( 0 ) Dysgraphia
( 7 ) Dyskeratosis Congenita
( 18 ) Dyslexia
( 0 ) Dysosteosclerosis
( 1 ) Dysphagia
( 0 ) Dysphasia
( 0 ) Dysphonia
( 0 ) Dysplasia Epiphyseal Punctata Epiphyseal Punctata
( 0 ) Dysplasia Epiphysealis Hemimelica Trevor Disease
( 87 ) Dyspraxia Motor Learning Difficulty,Clumsy Child Syndrome,Bilateral Integration
( 1 ) Dysthymia
( 11 ) Dystonia
( 1 ) Dystrophic EB
( 0 ) Eagle Syndrome
( 1 ) Eales Disease
( 0 ) Ear Nose and Throat Disorders
( 3 ) Eating Disorders
( 2 ) Ebstein Anomaly
( 3 ) Ectodactyly
( 5 ) Ectodermal Dysplasia Walker-Clodius Syndrome,EEC Syndrome
( 0 ) Ectodermal Dysplasia Syndrome
( 0 ) Ectopic Bladder
( 0 ) Ectopic heartbeat PVB,premature ventricular beat, Premature contraction, Premature beats, PVC, premature ventricular contraction, Extrasystole
( 0 ) Ectopica Vesicae
( 4 ) Ectrodactyly; Ectodermal Dysplasia; Cleft Lip & Palate Syndrome
( 5 ) Eczema Ectopic Eczema
( 27 ) Edward's Syndrome Trisomy 18,Chromosome 18 Trisomy (18 + Syndrome)
( 21 ) Ehlers-Danlos Syndrome Cutis Hyperelastica,Arthrochalasis-Multiplex Congenita,EDS
( 0 ) Eisenmenger Complex
( 1 ) Electrical Status Epilepticus of Slow Wave Sleep ESES
( 0 ) Elliptocytosis
( 1 ) Ellis-Van Crevald Syndrome Chondroectodermal Dysplasia
( 0 ) Empty Sella Syndrome
( 9 ) Encephalitis Viral Encephalitis
( 2 ) Encephalocele
( 1 ) Encephalocraniocutaneous Lipomatosis
( 1 ) Endocardial Fibroelastosis
( 1 ) Endometriosis
( 1 ) Enlarged Vestibular Aqueduct Syndrome
( 0 ) Enterovirus Non-polio Enterovirus
( 2 ) Enthestitis Related Arthritis
( 0 ) Eosinophilia