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Listing all conditions - alphabetically

Below is an alphabetical list of all the medical conditions within MakingContact.org. Click on the name of a condition to see the list of members registered against it.
If there are UK support groups for that condition it is indicated with this icon G. Click on this icon to view available support groups.

You can also return to the search page or list these conditions hierarchically.

Condition (aliases) No. of members Support Group
0 -
0 All Conditions 2 -
17 Ketosteroid Reductase Deficiency 0 -
22q11 Deletion Syndromes 24 G
3 Hydroxy Acyl CoA Dehydrogenase Deficiency 0 -
3 Methylglutaconic Adicuria 0 -
3-hydroxy-3-methylglutaric aciduria 0 -
3-Hydroxy-3-methylglutaryl-CoA lyase Deficiency 2 -
3rd Nerve Palsy of the Eye 2 -
5 Alpha Reductase Deficiency 0 -
Aarskog Syndrome (Aarskog-Scott Syndrome; Greig Syndrome; facial digital genital syndrome; facio genital dysplasia; shawl scrotum syndrome) 12 -
Aase-Smith Syndrome 2 -
Abdominal Exstrophies (Umbilical Hernia) 1 G
Abdominal Migraine 18 -
Abdominal Wall Dystonia 0 -
Absence of the Septum Pellucidum 2 -
Acanthosis Nigricans 0 -
Achalasia 3 -
Achalasia-Addisonianism-Alacrimia Syndrome (AAA; Allgrove Syndrome; Triple A) 3 -
Achenbach Syndrome 0 -
Achondrogenesis 0 -
Achondroplasia 28 -
Achromatopsia 0 -
Acid Maltase Deficiency 0 -
Acne (Acne Vulgaris) 1 G
Acne Vulgaris 0 -
Acoustic Neuroma (Vestibular Schwannoma) 1 G
Acquired Aplastic Anaemia 0 G
Acquired Partial Lipodystrophy 10 -
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 0 -
Acrodermatitis Enteropathica 2 -
Acrodysostosis 0 -
Acromegaloid Facial Appearance Syndrome (AFA Syndrome; Thick Lips and Oral Mucosa) 0 -
Acromegaly 0 -
Acromesomelic Dysplasia 2 -
Acropectorovertebral Dysplasia (F Syndrome) 0 -
ACTH Deficiency (Isolated ACTH Deficiency) 1 -
Actinic Prurigo 0 -
Actinomycosis 0 -
Acute Anterior Poliomyelitis 0 -
Acute Cerebellar Ataxia (Zappert's Syndrome) 2 -
Acute Cholinergic Dysautonomia 1 -
Acute Disseminated Encephalomyelitis (ADEM) 21 G
Acute Haemorrhagic Oedema of Infancy (Seidlmayer's Disease,Finkelstein's Disease,Acute Haemorrhagic Edema of Infancy) 1 -
Acute Infective Demyelisation 0 -
Acute Inflammatory Polyneuropathy 0 -
Acute Intermittent Porphyria 4 -
Acute Pityriasis Lichenoides 3 -
Acute Zonal Occult Outer Retinopathy (AZOOR) 0 -
Adams-Oliver Syndrome (Limbs/Scalp Defects; Adams-Olver Type) 17 G
Addison Disease (Adrenal Hypoplasia) 9 G
Adenosine Deaminase Deficiency (ADA) 1 -
Adenylosuccinate Lyase Deficiency 1 -
Adie Syndrome (Holmes-Adie Syndrome) 2 -
Adrenoleukodystrophy (Adrenomyeloneuropathy,Schilder's Disease,Sudanophilic leukodystrophy, ALD) 3 G
Adrenomyelopathy 0 -
Adynamic Oesphagus 0 -
Agammaglobulinaemia 2 -
Age related macular degeneration 0 -
Agenesis of the Corpus Callosum (Dysgenesis of the Corpus Callosum,Agenesis of the Corpus Callosum + Choroid Plexus Lipoma) 71 G
Agoraphobia 4 -
Agyria 0 -
Aicardi Syndrome 6 -
Aicardi-Goutieres Syndrome 5 -
ALA Dehydratase Deficiency 0 -
Alagille Syndrome (Alagille-Watson Syndrome,Arteriohepatic Dysplasia,Cardiovertebral Syndrome,Watson-Miller Syndrome) 1 -
Albinism (Piebaldism,Oculocerebral Syndrome with Hypopigmentation) 4 G
Albright Hereditary Osteodystrophy (AHO; Albright's Hereditary Osteodystrophy) 31 G
Alcaptonuria 2 -
Aldosteronism 0 -
Alexander Disease 6 -
Alkaptonuria 1 G
Allan Hurndon Dudley syndrome (Allen Hurndon syndrome) 5 -
Allergic Colitis 4 -
Allergic Enteropathy 3 -
Allergies (Milk Intolerance) 19 G
Alopecia (Congenital Hypotrichosis; ) 0 G
Alopecia Areata 0 -
Alopecia Mucinosa (Follicular Mucinosis) 0 -
Alopecia-Mental Retardation Syndrome 0 -
Alpers Disease 17 -
Alpha 1 - Antitrypsin Deficiency (Adult) 0 G
Alpha 1 - Antitrypsin Deficiency (Paediatric) 1 -
Alpha Amino Adipic Aciduria 0 -
Alpha Thalassaemia (ATR-16,ATR-X,Mental Retardation on the X Chromosome) 4 G
Alpha-feto protein deficiency 1 -
Alports Syndrome (Alport Syndrome) 2 -
Alström Syndrome (Alstrom Syndrome) 0 G
Alternating Hemiplegia (Alternating Hemiplegic Migraine) 2 G
Alveolar Capillary Dysplasia 0 -
Alzheimer's Disease 1 G
Ambidexterous 0 -
Ambiguous Genitalia 1 -
Amelogenesis Imperfecta (Trichodento-Osseous) 2 -
Ametropia 0 -
Amnesia 0 -
Amnesic Syndrome 0 -
Amniotic Band Syndrome 4 -
Amputation 1 -
Amyloidosis 1 -
Anaemias 0 -
Anal Atresia 4 -
Anal Stenosis 5 -
Anaphylaxis (Angioneurotic Oedema) 3 G
Andermann Syndrome (Charlevoix Disease) 3 -
Andrade Syndrome (Neuropathic Amyloidosis) 0 -
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) 4 G
Anencephaly 9 -
Aneurysmal Bone Cyst 0 -
Angelman Syndrome 49 G
Angina 0 -
Angina Bullosa Haemorrhagica (oral blisters; oral blood blisters) 7 -
Angiokeratoma 0 -
Angiomyolipoma 0 -
Anhidrotic Ectodermal Dysplasia 0 -
Aniridia (Congenital Abnormality of the Iris) 13 -
Ankylosing Spondylitis 2 G
Anonychia-Onychodystrophy with Hypoplasia or Absence/Distal Phal 0 -
Anophthalmia (Heminasal Aplasia) 4 G
Anorchia (Acquired) 0 -
Anorchidism 1 -
Anorexia Nervosa 2 -
Anosmia (Congenital Anosmia) 0 -
Anoxia 0 -
Anterior Anus with Vestibular Fistula 4 -
Anterior Horn Cell Hypoplasia 0 -
Anti K Antibodies 0 -
Anti-Jo-1 Syndrome 0 -
Antiphospholipid Syndrome (Hughes Syndrome) 10 G
Antithrombin Deficiency (Antithrombin III Deficiency) 0 -
Antley Bixler Syndrome 0 -
Anxiety Disorders (School Phobia) 15 G
Aortic-Left Ventricular Tunnel (Aorto Left Ventricular Tunnel; ALVT; aortico-left ventricular tunnel) 0 -
APECED Syndrome 5 -
Apendoma 0 -
Apert Syndrome 2 -
Aphasia 4 -
Aplasia Cutis (Cutis Aplasia Congenita) 30 -
Aplastic Anemia (Hyoplastic Anaemia) 0 -
Apnoea 4 -
Arboviral Encepalites 0 G
Arginase Deficiency 0 -
Argininosuccinic Aciduria 6 -
Arm or Hand Deficiencies 3 -
Arnold Chiari Malformation (Chiari Malformation) 38 -
Aromatic Amino Acid Decarboxylase Deficiency 0 -
Arrhythmia 0 -
Arterial Calcification of Infancy (Occlusive Infantile Arteriopathy,Arteriopathy - Occlusive Infantile) 17 -
Arterial Tortuosity Syndrome 0 -
Arteriovenous Malformation 2 G
Arthritis (Enteropathic Arthritis,Lumbar Spondylosis) 6 G
Arthritis (Juvenile Idiopathic) (Stills Disease) 41 G
Arthrogryposis (Amyoplasia Congenita,Arthrogryposis Multiplex Congenita) 16 G
Arthrogryposis Renal Dysfunction and Cholestasis 0 -
Asbestosis 0 -
Aspartylglycosaminuria 1 -
Assisted Ventilation 4 -
Asthma 39 G
Astrocytoma 1 -
Ataxia (undefined) 7 -
Ataxia with Oculomotor Apraxia 3 -
Ataxia-Telangiectasia (Louis Bar Syndrome) 1 G
Atopic Eczema 3 -
Atrial Septal Defect 4 -
Atrophoderma Vermiculata 2 -
Attention Deficit Hyperactivity Disorder (AD(H)D,ADD,Attention Deficit Disorder,ADHD,Hyperkinetic Disorder) 226 G
Atypical Haemolytic Uraemic Syndrome 0 -
Auditory Memory Loss 0 -
Auditory Neuropathy 6 -
Autistic Spectrum Disorders including Aspergers Syndrome (autism,aspergers syndrome,asperger,asd) 505 G
Auto-Immune Thyroid Deficiency 3 -
Autoimmine Neutropenia 2 -
Autoimmune Disorders 0 -
Autoimmune Enteropathy 0 -
Autoimmune Haemolytic Anaemia 0 -
Autoimmune Inflammatory Disease 0 -
Autoimmune Polyendocrinopathy-Candidiasis-Ectoderm 3 -
Autoimmune Proliferative Syndrome 0 -
AutoimmuneVasculitis with Cryoglobulinaemia 0 -
Autonomic Neuropathy 0 -
Avascular Necrosis (Osteonecrosis) 4 -
Axenfeld Syndrome (Axenfeld Anomaly; Axenfeld-Rieger Syndrome; Rieger Syndrome) 0 -
Axenfeld-Schürenberg Syndrome (Cyclic Oculomotor Paralysis; Congenital Cyclic Oculomotor Paralysis) 0 -
Back Pain 3 -
Baller-Gerold Syndrome (craniosynostosis-radial aplasia syndrome) 2 -
Bannayan-Riley-Ruvalcaba Syndrome (Bannayan-Zonana Syndrome; Riley-Smith Syndrome; Ruvalcaba Myhre-Smith syndrome; Bannayan Syndrome; Macrocepahly; Multiple Lipomas and Hemangiomata; BRRS; ) 7 -
Barber-Say Syndrome 0 -
Bardet-Biedl Syndrome (Laurence-Moon-Bardet-Beidl Syndrome, Adipogenital Retinitis Pigmentosa-Polydactyly) 9 G
Barlow Syndrome 0 -
Barre-Lieou Syndrome 0 -
Barth Syndrome (3 Methylglutaconic Aciduria Type II) 1 G
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) 4 -
Bassen-Kornzweig syndrome (Abetalipoproteinemia; Acanthocytosis; Apolipoprotein B deficiency) 1 -
Batten Disease 1 G
Beals I Syndrome (Auriculoosteodysplasia; Beals syndrome) 0 -
Beals II Syndrome (Congenital Contractural Arachnodactyly; Beals Hecht Syndrome) 3 -
Becker Muscular Dystrophy 2 G
Beckwith-Wiedemann Syndrome (Neonatal hypoglycaemia, visceromegaly, hemihypertrophy,Exomphalos-Macroglossia-Gigantism) 9 G
Behavioural Difficulties (Emotional Difficulties; Episodic Dyscontrol Syndrome) 25 -
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) 0 -
Benign Intracranial Hypertension (Pseudotumour Cerebri; Idiopathic Intracranial Hypertension) 18 -
Benign Myoclonic Epilepsy 0 -
Benign Myoclonus of Infancy (Benign Myoclonus) 1 -
Benign Neonatal Familial Convulsions 1 -
Benign Paroxysmal Positonal Vertigo 0 -
Benign Paroxysmal Tonic Upward Gaze 5 -
Benign Paroxysmal Torticollis 12 -
Benign Paroxysmal Torticollis in Infancy 15 -
Benign Spinal Cord Tumour (Spinal Cord Tumour) 0 -
Benzodiazepines in Pregnancy 0 -
Berardinelli Lipodystrophy 0 -
Bernard-Soulier Syndrome 0 -
Best's Disease (Bests Disease) 3 -
Bethlem Myopathy (Benign Congenital Muscular Dystrophy) 9 -
Bicoronal Synostosis 0 -
Bicuspid Aortic Valve Disorder (BAVD) 0 -
Biliary Atresia 2 -
Biliary Hypoplasia 0 -
Binswanger Disease 0 -
Biotin Deficiency 1 -
Biotinidase deficiency 1 -
Bipolar Disorder (Manic Depression, Bipolar Affective disorder Bi Polar Disorder) 13 G
Bipolar Disorder Type II (Bi polar Disorder type II) 1 -
Birdshot Chorioretinopathy (Birdshot Retinochoroidopathy; BSCR) 2 -
Birth Trauma 5 -
Birthmarks/Naevus (Naevus; Fragmented Mole; Congenital Giant Naevus) 2 G
Bladder Disease 0 -
Bladder Exstrophy (exstrophy epispadias complex) 4 G
Blepharospasm 0 -
Blood Disorders 3 -
Bloom Syndrome (Bloom-Torre-Mackacek) 1 -
Blount Barber Syndrome (Blounts Disease; Tibia vara) 7 -
Blue Rubber Bleb Syndrome 4 -
Body Dysmorphic Disorder 0 -
Bone Disorders 1 -
Bone Tumour 0 -
Borjeson Syndrome (Borjeson-Forssman-Lehmann Syndrome) 0 -
Bornholm Syndrome (Myalgia Epidemic) 0 -
Bowen Disease 0 -
BPES (Blepharophimosis Syndrome,Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome) 2 -
Brachycephaly (Bicoronal Synostosis) 0 -
Brachytelaphangic Chondrodysplasia Punctata 2 -
Bradycardia associated with heart block 1 -
Brain Aneurysm 2 -
Brain Cysts (Arachnoid Cysts; Periventricular Cysts) 2 -
Brain Damage/Injury (acquired and congenital) 33 -
Brain Disorders (inc Head Injury) 6 -
Brain Stem Atrophy 0 -
Brain Tumour (PNET; Apendeoma; Pilocystic Astrocytoma) 5 G
Branchial Cleft Carcinoma 0 -
Branchial Cleft Cyst 0 -
Branchio-Oculo-Facial Syndrome 2 -
Branchio-Oto-Renal Syndrome (Branchiootorenal syndrome, Melnick-Fraser syndrome, BOR syndrome, Branchio-otorenal dysplasia, Branchio-otorenal syndrome) 2 -
Breath Holding 2 -
Bright's Disease (Acute Glomerulonephritis) 1 -
Brittle Asthma 2 -
Brittle Bone Diseases (Osteogenesis Imperfecta) 13 G
Brody disease (Brody Myopathy) 0 -
Bronchial Malacia 5 -
Bronchiectasis 2 -
Bronchiolitis Obliterans 2 -
Bronchiolitis Obliterans with Organizing Pneumonia (BOOP) 1 -
Broncho Pulmonary Dysplasia (BPD) 3 G
Brown Bowel Syndrome 0 -
Brown Syndrome 0 -
Brown-Séquard Syndrome 0 -
Brown-Vialetto-Van-Laere Syndrome 1 -
Brugada Syndrome 1 -
Brutons's Disease (x-linked agammaglobulinaemia; XLA) 0 -
Bruxism (Teeth Grinding) 1 -
Budd-Chiari Syndrome 0 -
Buerger Disease (Occlusive Peripheral Vascular Disease,Thromboangiitis Obliterans) 0 -
Bulbar Palsy 9 -
Bulimia Nervosa 1 -
Bull's Eye Dystrophy (Concentric Annular Macular Dystrophy,Bull's eye macular dystropy,Maculopathy - Bull's eye) 0 -
Bullouos Ichthyosiform Erythroderma 2 -
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)) 1 -
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) 0 -
Camurati Englemann Syndrome (Englemann Syndrome; Progressive Diaphyseal Dysplasia) 2 -
Canavan Disease 1 -
Cancer 2 G
Cantu Syndrome (Hypertrichotic Oseochondrodysplasia) 0 -
Carbohydrate Deficient Glycoprotein Syndrome 2 -
Carbon Monoxide Poisoning 0 -
Carcinoid Disease (Carcinoid Syndrome) 0 -
Cardiofaciocutaneous Syndrome (CFC Syndrome) 4 -
Cardiomyopathies (HCM,Dilated Cardiomyopathy,Hypertrophic Cardiomyopathy) 5 G
Carney Syndrome (Carney Triad; Carney Complex; Lamb Syndrome; Name Syndrome) 1 -
Carnitine 0 -
Caroli Disease 0 -
Carp Mouth Syndrome (Chromosome 18q) 0 -
Carpal Tarsal Osteolysis (Idiopathic Carpal Tarsal Osteolysis; multicentric osteolysis) 0 -
Carpal Tunnel Syndrome 0 -
Carpenter Syndrome 5 -
Castleman Disease 0 -
Cat Eye Syndrome 1 -
Cataracts 20 G
Catel-Manzke Syndrome (Pierre Robin Syndrome with Hyperphalangy & Clinodactyly) 6 -
Cauda Equina Lesion 0 -
Caudal Regression Syndrome (Mermaid Syndrome; Caudal Dysplasia; Caudal Dysgenesis) 7 -
Cavernous Haemangioma (Cavernoma) 0 -
Cavum Septum Pellucidum 0 -
Cellulitis 0 -
Central Auditory Processing Disorder 2 -
Central Cleft of Lip/Encephalocele 0 -
Central Core Myopathy 1 -
Cephalic Disorders (Acephaly; Colpocephaly; Exencephaly; Micrencephaly; Octocephaly; Iniencephaly) 0 -
Cerebellar Ataxia 10 -
Cerebellar Hypoplasia (Cerebellar Agenesis; Cerebellar Aplasia; Hypoplasia of the Cerebellum; Cerbellar Dysgenesis; Dysgenesis of the Cerebellum) 11 -
Cerebellar Mutism 0 -
Cerebellar Vermis Hypoplasia 5 -
Cerebral Aneurysm 0 -
Cerebral Arteriovenous Malformation (Arteriovenous Malformation of the Brain; Cerebral AVM; Brain AVM) 1 -
Cerebral Ataxia (Idiopathic Cerebellar Ataxia) 3 -
Cerebral Atrophy 9 -
Cerebral Autosomal Dominant Arteriopathy with Subc (CADASIL) 7 -
Cerebral Hernia 0 -
Cerebral Hypertension 0 -
Cerebral Hypotension 0 -
Cerebral Infarct 2 -
Cerebral Lipidosis 0 -
Cerebral Malacoplakia 0 -
Cerebral Palsy 247 G
Cerebro-Oculo-Muscular Dystrophy 0 -
Cerebrocostomandibular Syndrome (Smith-Theiler-Schachenmann Syndrome; CCM Syndrome; CCMS; Rib Gap Defects with Micrognathia) 8 -
Cerebrohepatorenal 0 -
Cerebrotendinous Xanthomatosis 0 -
Cervical Cancer 0 -
Cervical Spondylosis 3 -
Channelopathies 0 -
Charcot-Marie-Tooth Disease (Motor & Sensory Neuropathy,Hereditary Motor & Sensory Neuropathy,Peroneal Muscular Dystrophy,Peroneal Muscular Atrophy,CMT,Congenital Axonal Neuropathy) 23 G
CHARGE Association ("Colomba; Heart Defect; Atresia Choanae; Restricted Growth and Development; Genital Hypoplasia; Ear Anomalies") 9 G
Charles Bonnet Syndrome (Bonnet Syndrome) 0 -
Chatterbox Syndrome 1 -
Chediak-Higashi Syndrome (Oculocutaneous albinism) 1 -
Cherubism (Fibrous Jaw Dysplasia) 2 -
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) 1 -
Chloride Shunt Syndrome (Gordon Syndrome; Pseudohypoaldosteronism) 1 -
Choanal Atresia 3 -
Cholangitis (Primary Sclerosing Cholangitis) 0 -
Cholestasis 0 -
Cholesteatoma 0 -
Cholesteryl Ester Transfer Protein Deficiency 0 -
Chondromalacia Patellae 1 -
Chorioathetosis (Paroxysmal Kinesigenic Choreoathetosis; Paroxysmal Kinesogenic Dyskinesia; Paroxysmal Dystonic Choreoathetosis) 2 -
Chorioretinopathy and Pituitary Dysfunction (CPD Syndrome) 0 -
Choroid Plexus Cysts 1 -
Choroideremia 0 -
Christmas Disease 1 -
Chromosome 1 Disorder 10 G
Chromosome 10 Disorder 5 G
Chromosome 11 Disorder 1 G
Chromosome 12 Disorder 14 G
Chromosome 13 Disorder 1 G
Chromosome 14 Disorder 10 G
Chromosome 15 Disorder 9 G
Chromosome 16 Disorder 0 G
Chromosome 17 Disorder 14 G
Chromosome 19 Disorder 1 G
Chromosome 2 Disorder 4 G
Chromosome 20 Disorder 3 G
Chromosome 21 Disorder 3 G
Chromosome 22 Disorder 3 G
Chromosome 3 Disorder 3 G
Chromosome 4 Disorder 4 G
Chromosome 5 Disorder 5 G
Chromosome 6 Disorder 5 G
Chromosome 7 Disorder 2 G
Chromosome 8 Disorder (Chromosome Disorders, Tetrasomy 8p) 9 G
Chromosome 9 Disorder 3 G
Chromosome Disorders 20 G
Chromosome Marker 0 -
Chromosome X Inversion syndrome 0 -
Chromotosia Congenita 0 -
Chronic Actinic Dermatitis (photosensitivity dermatitis/actinic reticuloid syndrome (PD/AR)) 3 -
Chronic Advancing Peripheral Axonal Neuropathy 0 -
Chronic Bullous Disease of Childhood (Linear IgA Dermatosis; LAD; Chronic Bullous Dermatitis of Childhood) 4 -
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 G
Chronic Hereditary Polyneuropathy 0 -
Chronic Infantile Neurological Cutaneous Articular (CINCA; Neonatal Multisystem Inflammatory disease; NOMID) 0 -
Chronic Inflamatory Demyelinating Polyneuropathy (Demyelination Peripheral Neuropathy) 0 -
Chronic Intestinal Pseudo Obstruction 3 -
Chronic Mucocutaneous Candidiasis 0 -
Chronic Obstructive Pulmonary Disease (COPD) 1 -
Chronic Pain Syndrome 9 -
Chronic Pancreatitis 1 -
Chronic Partial Denervation 0 -
Chronic Progressive External Ophthalmoplegia 0 -
Chronic Recurrent Multifocal Osteomyelitis (CRMO) 6 -
Chronic Tic Disorder 1 -
Churg-Strauss Syndrome 0 -
Chylomocron Retention Disease 0 -
Ciliary Dyskinesia 0 -
Citrullinaemia 6 -
Cleft Lip and/or Palate (Cleft Mandible) 21 G
Cleft Split of Cerebellum 0 -
Cleidocranial Dysplasia (Marie Sainton Syndrome; Cleidocranial Dysostosis) 23 -
Cloacal Exstrophy 2 -
Cloverleaf Syndrome (Kleeblattschsedel Syndrome; Cloverleaf skull) 0 -
Club Foot 4 -
Coarctation of the Aorta 4 -
Coats' Disease (Exudative Retinitis) 8 -
Cochlear Implants 0 -
Cockayne Syndrome (Cockayne Neills Dwarfism) 3 -
Coeliac Disease (Sprue Syndrome; Gluten Enteropathy) 4 G
Coffin-Lowry Syndrome 1 -
Coffin-Siris Syndrome (Dwarfism-onychodysplasia; Fifth Digit Syndrome) 6 -
Cogan's Dystrophy (Cogan's Syndrome III) 0 -
Cogan's I Syndrome (Keratitis-Deafness) 1 -
Cohen Syndrome 1 G
Cold Haemagglutinin Disease 0 -
Colitis (Lymphocytic Colitis) 3 -
Collodian Baby 0 -
Coloboma 13 -
coloboma & cyst on the cerebellum 0 -
Colostomy 4 -
Colourblindness 0 -
Coma (Persistent Vegetative State) 0 -
Common Variable Immunodeficiency (CVID) 1 -
Complement Deficiencies 0 -
Complement Receptor Deficiencies 0 -
Complex 1 Deficiency 0 -
Complex Pulmonary Atresia 1 -
Conduct Disorder and Oppositional Defiance Disorder 30 -
Condylar Hyperplasia 0 -
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) 1 G
Congenital Adrenal Hyperplasia (Adrenal Hyperplasia; CAH; adrenogenital syndrome) 8 G
Congenital Adrenal Hypoplasia 0 -
Congenital Asplenia 1 -
Congenital Bilateral Perisylvian Syndrome 24 G
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) 0 G
Congenital Chloride Diarrhoea 1 -
Congenital Cystic Adenomatoid Malformation (CCAM) 24 -
Congenital Dislocation of the Hip (CDH) 32 -
Congenital Disorders of Glycosylation (CDG,Carbohydrate Deficient Glycoprotein syndromes) 2 -
Congenital Dyserythropiectic Anaemia (Dyserythropoiectic Anaemia) 4 -
Congenital Dyserythropoietic Anemia Type II 0 -
Congenital Fibre Type Disproportional Myopathy 3 -
Congenital Folate Malabsorption (ICFM) 0 -
Congenital Generalized Fibromatosis 0 -
Congenital Horseshoe Kidney 1 -
Congenital Hyperinsulinism (Persistent Hyperinsulinism Hypoglycaemia of Infancy; PHHI; Nesidioblastosis) 1 -
Congenital Insensitivity to Pain 18 -
Congenital Laryngeal Stricture 0 -
Congenital Lobar Emphysema 7 -
Congenital Lymphoedema (Primary Lymphoedema) 0 -
Congenital Macrodactyly 30 -
Congenital Melanocytic Naevi 1 G
Congenital Muscular Dystrophy (Oculocerebromuscular) 10 -
Congenital Neutropenia (Infantile Agranulocytosis; Cyclical Neutropenia; Neutropenia; Kostmann's Disease) 12 -
Congenital Ocular Motor Apraxia (Oculomotor Apraxia; Saccade initiation; Cogan's apraxia ) 29 G
Congenital Porphyria 0 -
Congenital Pulmonary Lymphangiectasia (Pulmonary Lymphangiectasia) 4 -
Congenital Stationary Night Blindness 6 -
Congenital Varicella 1 -
Congenital Vertical Talus 1 -
Conn Syndrome 0 -
Connective Tissue Disorders 1 -
Conradi-Hunermann Syndrome (Chondrodysplasia Punctata (Rhizomelic Type),Rhizomelic Chondrodysplasia Punctata) 24 -
Conversion Disorder 0 -
Copper Poisoning 0 -
Cori Type III Glycogenosis 0 -
Corneal Dystrophy 5 -
Cornelia De Lange Syndrome (Status Degenerativus Typus Amstelodamensis,Amsterdam Dwarfism,Brachman de Lange,Status Degenerativus Typus Amstelodamensis,De Lange I Syndrome) 12 G
Cortical Dysplasia 2 -
Corticobasal Degeneration 4 G
Costello Syndrome 1 G
Costochondritis 2 -
Cot Death 2 G
Cowden Syndrome (Multiple Hamartoma Syndrome) 0 -
Craniodiaphyseal Dysplasia 0 -
Craniofacial Cleft (Tessier Scale) 2 -
Craniofacial Conditions 11 G
Craniofrontonasal Dysplasia (Craniofrontal Dysostosis) 3 -
Craniometaphyseal Dysplasia 0 -
Craniopharyngioma 0 -
Craniostenosis 3 -
Craniosynostosis 38 -
Creatine Transporter Deficiency Syndrome (SLC6A8 deficiency) 2 -
Creutzfeld-Jacob Disease (CJD,Creutzfeld Jacob) 0 G
Cri du Chat Syndrome (Chromosome 5p,Lejeune Syndrome) 17 G
Crigler-Najjar Syndrome (Congenital Familial Non-Haemolytic Jaundice) 0 -
Crohn's Disease (Colitis) 1 G
Cronkite-Canada Syndrome 0 -
Crosslaterality 0 -
Crouzon Syndrome 3 -
Cryoglobulinaemia 0 -
Currarino Syndrome (Currarino Triad) 8 -
Curry-Jones Syndrome 0 -
Cushing Syndrome (Cushing Disease) 1 G
Cutis Laxa (elastolysis) 2 -
Cutis Marmorata Telangiectatica Congenita (Macrocephaly, Cutis Marmorata Telangiectatica Congenita) 14 -
Cyclical Vomiting 8 G
Cylindroma (Adenoid Cystic Carcinoma) 0 -
Cystic Adenomatoid Malformation Type I (CAM I) 0 -
Cystic Angiomatosis 0 -
Cystic Fibrosis (Cystic Fibrosis) 13 G
Cystic Hygroma 28 G
Cystic Lymphoma 1 -
Cystinosis 1 -
Cystinuria 1 -
Cytochrome C Oxidase Deficiency (COX Deficiency) 1 -
Cytomegalovirus (CMV) 16 G
DAMP (Deficits in Attention; Motor control and Perception) 11 -
Dancing Eye Syndrome (Opsoclonus-myoclonus,Kinsbourine Syndrome,Myoclonic Encephalopathy) 0 G
Dandy Walker Syndrome 22 -
Darier Disease 2 -
Davidenkow syndrome (Neuropathic scapuloperoneal syndrome) 0 -
De Barsy Syndrome 2 -
de Grouchy Syndrome I (18p- syndrome; 18p deletion syndrome; chromosome 18p monosomy; del(18p) syndrome; deletion 18p syndrome; monosomy 18p; partial monosomy 18p ) 5 -
De Grouchy Syndrome II (18q- syndrome; 18q deletion syndrome; chromosome 18q; del(18q) syndrome; deletion 18q syndrome; monosomy 18q; partial monosomy 18q ) 9 -
De La Chappelle syndrome (XX Male syndrome) 0 -
Deaf Blind/Rubella Damaged (Congenital Rubella Syndrome,Rubella) 3 G
Deafblindness 1 -
Deafness 27 G
Degos Disease (Kohlmeier-Degos Disease,Degos-Kohlmeier Disease,Malignant Atrophic Papulosis) 0 G
Dejerine Sottas Disease (Progressive Hypertropic Interstitial Polyneuropathy) 3 -
Dementia 0 -
Dementias 0 -
Denny-Brown Syndrome (Hereditary Sensory Neuropathy Type I,HSN1) 0 -
Dent's Disease 0 -
Dentato-Olivary Dysplasia 1 -
Dentatorubral-pallidoluysian Atrophy (DRPLA) 0 -
Dentinogenesis Imperfecta 1 -
Depression 13 -
Dercum Disease 3 -
Dermatitis Herpetiformis 0 -
Dermatomyositis and Polymyositis (Juvenile Dermatomyositis) 1 G
Desbuquois Syndrome (Desbuquois Dysplasia,Micromelic Dwarfism with Vertebral and Metaphyseal Abnormalities and Advanced Carpotarsal Ossification) 0 -
Desmin-Related Myopathy (Desminopathy) 0 -
Desmoid Tumour (Musculo-aponeurotic fibromatosis; aponeurotic fibromatosis; agressive fibromatosis) 1 -
Desquamative Interstitial Pneumenitis (Interstitial Pneumonitis) 0 -
Developmental Delay 107 -
Developmental Motor Co-ordination Disorder 4 -
Developmental Verbal Dyspraxia 37 -
Devic Disease (Neuromyelitis Optica) 1 -
DHPR Deficiency (Phenylketonuria II; Dihydropteridine Reductase Deficiency; Atypical PKU) 1 -
Diabetes Insipidus 11 -
Diabetes Mellitus 19 G
Diabetic Neuropathy 0 -
Diamond Blackfan Anaemia Syndrome (Blackfan Diamond Syndrome,Congenital Aregenerative Anaemia,Erythrogenesis Imperfecta,Primary Red Cell Anaemia,Hypoplastic Congenital Anaemia,Idiopathic Erythroblastopenia) 9 G
Diaphragmatic Hernia (Congenital Diaphragmatic Hernia) 14 G
Diastasis Symphysis Pubis (Symphysis Pubic Dysfunction) 8 -
Diastematomyelia 3 -
Diastrophic Displasia (Diastrophic Dwarfism) 4 -
Diencephalic Syndrome (Diencephalic Tumor of Infancy) 0 -
DiGeorge Syndrome 27 -
Digestive Disorders 0 -
Dihydropyrimidine Dehydrogenase Deficiency 0 -
Diogenes Syndrome 0 -
Discitis 0 -
Disintegrative Psychosis (Childhood Disintegrative Disorder,Heller Syndrome) 2 -
Distal Muscular Dystrophy (Markesbery distal myopathy) 0 -
Diverticulitis 1 -
Diverticulum of the Left Ventrical 0 -
Divry-Van Bogaert Syndrome (Angiomatosis Diffuse Corticomeningeal,Bogaert- Divry Syndrome) 0 -
Donnai-Barrow Syndrome 5 -
Door Syndrome 0 -
Double Inlet Single Ventricle Condition 1 -
Double Inlet Ventricle 1 -
Down's Syndrome (Trisomy 21,Chromosome 21 Trisomy, downs) 97 G
Down's Syndrome with Heart Defect (downs with heart defect) 22 G
Drash Syndrome (Denys-Drash Syndrome) 0 -
Dravet Syndrome 15 -
Dressler Syndrome 0 -
Drugs (adverse reactions) (Tetracyclene (adverse reaction)) 0 -
Drusen Disease 0 -
Duane Retraction Syndrome (Duane Syndrome; DRS) 8 -
Dubowitz Syndrome 3 -
Duchenne Muscular Dystrophy (dmd) 31 G
Duncan Syndrome (X-Linked Proliferative Syndrome; XLP; Purtillo's syndrome) 1 -
Dupuytren Contracture 0 -
Dyggve-Melchior-Clausen Syndrome 1 -
Dyke Davidoff-Masson Syndrome (Cerebral Hemiatrophy,DDM) 0 -
Dysarthria 1 -
Dyscalculia 2 -
Dyschondrosteosis (Leri-Weill Syndrome) 2 -
Dysembryoplastic Neuroepithelial Tumour 2 -
Dysequilibrium Syndrome (Cerebellar Disorder; Nonprogressive; with Mental Retardation) 1 -
Dysgraphia 0 -
Dyskeratosis Congenita 9 G
Dyslexia 25 G
Dysosteosclerosis 0 -
Dysphagia 1 -
Dysphasia 0 -
Dysphonia 0 -
Dysplasia Epiphyseal Punctata (Epiphyseal Punctata) 0 -
Dysplasia Epiphysealis Hemimelica (Trevor Disease) 0 -
Dyspraxia (Motor Learning Difficulty,Clumsy Child Syndrome,Bilateral Integration) 120 G
Dysthymia 1 -
Dystonia 14 G
Dystrophic EB 1 -
Eagle Syndrome 0 -
Eales Disease 1 -
Ear Nose and Throat Disorders 0 -
Eating Disorders 4 G
Ebstein Anomaly 2 -
Ectodactyly 3 -
Ectodermal Dysplasia (Walker-Clodius Syndrome,EEC Syndrome) 6 G
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 0 -
Ectrodactyly; Ectodermal Dysplasia; Cleft Lip & Palate Syndrome 4 -
Eczema (Ectopic Eczema) 6 G
Edward's Syndrome (Trisomy 18,Chromosome 18 Trisomy (18 + Syndrome)) 30 G
Ehlers-Danlos Syndrome (Cutis Hyperelastica,Arthrochalasis-Multiplex Congenita,EDS) 35 G
Eisenmenger Complex 0 -
Electrical Status Epilepticus of Slow Wave Sleep (ESES) 3 -
Elliptocytosis 0 -
Ellis-Van Crevald Syndrome (Chondroectodermal Dysplasia) 1 G
Empty Sella Syndrome 0 -
Encephalitis (Viral Encephalitis) 12 G
Encephalocele 2 -
Encephalocraniocutaneous Lipomatosis 1 -
Endocardial Fibroelastosis 1 -
Endometriosis 1 -
Enlarged Vestibular Aqueduct Syndrome 1 -
Enterovirus (Non-polio Enterovirus) 0 -
Enthestitis Related Arthritis 2 -
Eosinophilia 0 -
Eosinophilic Colitis 17 -
Eosinophilic Gastritis 0 -
Eosinophilic Gastroenteritis 4 -
Eosinophilic Granuloma 2 -
Ependymoma Tumour 0 -
Epidermal Naevus Syndrome (Epidermal Nevus syndrome; Linear Nevus Sebaceous syndrome; Linear Naevus Sebaceous syndrome) 2 -
Epidermolysis Bullosa (EB Simplex) 2 G
Epiglottitis (Supraglottisis) 0 -
Epilepsy (Spinal Myoclonus,Unverricht Lundborg) 140 G
Episodic Ataxia 0 -
Episodic Ataxia Type 1 0 -
Episodic Ataxia Type 2 7 -
Epispadias 1 -
Epispadias (Female) 0 -
Epithelioid Haemangioendothelioma 0 -
Epstein Barr Virus 0 -
Erb's Palsy (Klumpke's Paralysis,Brachial Plexus paralysis) 6 G
Erdheim-Chester Syndrome (ECD) (ECD, Lipoid Granulomatosis) 0 -
Erythromelalgia 3 -
Essential Thrombocythemia 0 -
Ethropoietic Protoporphyria 3 -
Ethylmalonic Adipic Aciduria 0 -
Evans Syndrome 1 -
Ewing's Sarcoma 0 -
Executive Function Disorder 0 -
Exomphalos (Omphalocele) 2 -
Extrapyramidal Disorder 1 -
Fabry's Disease (Anderson-Fabry Disease, Haemorrhagic Nodular Glycolipid Lipidosis, Angiokeratoma corporis diffusum) 0 G
Facial Disfigurement (Facial Palsy) 4 G
Facioscapulohumeral Muscular Dystyrophy (Facioscapuloperoneal Muscular Dystrophy,Landouzy-Dejerine) 0 G
Factor B deficiency 0 -
Factor D deficency 0 -
Factor II Deficiency 0 -
Factor V Leiden 6 -
Factor XI Deficiency 0 -
Fahr Disease 0 -
Failure to Thrive 19 -
Fallot's Tetralogy 16 -
Familial Dysautonomia 1 G
Familial exudative vitreoretinopathy (FEVR) 2 -
Familial Hyperlipidaemia (Familial Hypercholesterolaemia,Familial Hypertriglyceridaemia,FCH,Hyperlipidaemia,Familial Combined Hyperlipidaemia) 0 -
Familial Hyperlipidaemias (Hypercholesterolaemia) 0 G
Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (Famililal Hypomagnesemia-Hypocalcemia; Famililal Hypomagnesemia-Calciuria; FHHNC; Manz syndrome) 0 -
Familial Mediterranean Fever (Siegal-Cattan-Mamou Syndrome) 2 -
Familial Spastic Paraplegia (Struempel Disease,Hereditary Spastic Paraplegia,Spastic Diplegia,Spastic Paraparesis,Spastic Paraplegia) 3 G
Fanconi Syndrome 2 -
Fanconi's Anaemia (Aplastic Anaemia - Congenital,Congenital Aplastic Anaemia) 4 G
Fatal Familial Insomnia 0 -
Fatty Acid Oxidation Disorders 0 G
Fazio-Londe Syndrome (Progressive Bulbar Paralysis) 1 -
Febrile Convulsions 2 -
Female pattern Hair Loss (Female Androgenetic Alopecia; female hairloss) 0 -
Femoral Hypoplasia-Unusual Facies Syndrome 20 -
Femur-Fibula-Ulna Syndrome 0 -
Fetal Abnormalities 0 G
Fetal Alcohol Syndrome 26 G
Fetal Anti-Convulsant Syndrome (Fetal Phenytoin Syndrome,Fetal Hydrotoin Syndrome,Phenytoin Syndrome,Sodium Valporate Syndrome) 30 G
Fetal Anticoagulant Syndrome (DiSala Syndrome,Coumarin Syndrome,Warfarin Syndrome,Wafarin Embryopathy,Heparin Embryopathy,Fetal Warfarin Syndrome,Congenital Warfarin Syndrome) 0 -
FG Syndrome (Opitz-Kaveggio syndrome; Opitz FG syndrome; Keller syndrome) 4 -
Fibrodysplasia Ossificans Progressiva (Myositis Ossificans) 0 -
Fibromatosis 0 -
Fibromyalgia 15 -
Fibrosarcoma 0 -
Fibrosing Alveolitis 0 -
Fibrous Dysplasia 2 -
Fibula Deficiency 0 -
Fibula Hemimelia 2 -
Filipi Syndrome 0 -
Filippi Syndrome 0 -
Fine Lubinsky Syndrome 0 -
Finlay-Marks Syndrome 2 -
Fish Odour Syndrome 2 -
Floating-Harbor Syndrome 8 G
Focal Myoclonus 0 -
Focal segmental Glomerulosclerosis 5 -
Folate Deficiency Anaemia 0 -
Food Poisoning 0 -
Forestier's Disease (Diffuse Ideopathic Skeletal Hyperostosis) 0 -
Fowler Syndrome (Idiopathic voiding dysfunction and retention) 0 -
Fragile X Syndrome (Fraxe Syndrome) 33 G
Frank-Ter Haar syndrome (Ter Haar syndrome,FTHS) 0 -
Fraser Syndrome (Cryptothalmus Syndactylly) 1 -
Freeman Sheldon Syndrome 3 G
Fregoli Illusion (Hyperidentification,Illusion of Fregoli) 1 -
Freiberg Disease (Osteochondrosis of the metatarsal head) 0 -
Friedreich's Ataxia (Spinocerebellar Degeneration,Recessive spinocerebellar degeneration) 7 G
Frontal Bone Protrusion 1 -
Frontal Lobe Dysfunction 0 -
Frontometaphyseal Dysplasia 2 -
Frontonasal Dysplasia (Median Cleft Face Syndrome; de Meyer Syndrome) 2 -
Frontotemporal Dementia (Pick's Disease) 0 G
Fryns Syndrome 7 -
Fucosidosis 1 -
Fukuyama Congenital Muscular Dystrophy 0 -
Gait Apraxia 0 -
Galactosaemia 2 G
Gall Bladder Problems (Cholecystectomy) 0 -
Galloway Syndrome 0 -
Gangliosidosis GM1 and GM2 3 -
Ganser Syndrome 0 -
Gardner's Syndrome (Familial Adenomatous Polyposis,Polyposis coli) 1 -
Gastric Disorders 0 -
Gastric Teratoma Tumour 0 -
Gastro-oesophageal Reflux 47 -
Gastroenteropathy 0 -
Gastroparesis (Delayed gastric emptying) 0 -
Gastroschisis 6 -
Gastrostomy 23 -
Gaucher Disease (Familial splenic anaemia,Cerobroside Lipidosis) 1 G
Gelastic Epilepsy 0 -
Geleophysic Dysplasia 1 -
Gender Identity Problems 2 -
Genital Herpes Simplex 0 -
Geographic Tongue 1 -
Geroderma Osteodysplastica (Bamatter) 2 -
Gerstmann Syndrome 0 -
Gerstmann-Straussler-Scheinker disease (Gerstmann Straussler Scheinker, GSS) 0 -
Gianotti-Crosti Syndrome 0 -
Giant axonal neuropathy 1 -
Gigantism 1 -
Gilbert Syndrome 0 -
Gillespie Syndrome 7 -
Gitelman Syndrome 7 -
Glanzmann's Thrombasthenia (Thrombasthenia) 0 G
Glaucoma 10 G
Global Developmental Delay 206 -
Glomangioma (angiomyoneuroma; angioneuroma) 1 -
Glucose 6 Phosphate Dehydrogenase Deficiency 1 -
Glucose Galactose Malabsorption Deficiency 0 -
Glue Ear 0 -
Glutaric Acidaemia Type I 1 -
Glutaric Acidaemia Type II 0 -
Glutaric Acididura 0 -
Glycogen Storage Disease (Tarui Type VII Glycogenesis,Von Gierke) 0 G
Goldberg Shprinzten syndrome (GOSHS; HSCR cleft palate-mental retardation; Goldberg-Shprinzten megacolon syndrome.) 0 -
Goldenhar Syndrome (Oculo-Auricular Verterbral Syndrome,Oculo Auriculo Verebral Dysplasia,Hemifacial Microsomia,First and Second Branchial Arch Syndrome,Facioauriculovertebral Spectrum,Auriculo-oculo-vertebral-Syndrome) 23 G
Goltz Syndrome (Focal Dermal Hypoplasia) 18 -
Gonadal Dysgenesis XX Type 0 -
Goodpasture Syndrome (Ceelen-Cellerstedt Syndrome) 0 -
Gordon Syndrome 0 -
Gorham Syndrome 1 -
Gorlin Syndrome (Basal Cell Naevus Syndrome) 2 G
Gout 0 -
Graves Disease 2 -
Greig Syndrome (Optic Hypertelorism) 0 -
Griscelli Syndrome 1 -
Group A Streptococcus 0 -
Group B Streptococcus 0 G
Growth Disorders 4 -
Growth Hormone Deficiency (Multipituitary Hormone Deficiency) 12 G
GTP Cyclohydrolase 1 Deficiency (Dopa-Responsive Dystonia,Dopa,Responsive) 0 -
Guanadinoacetate Methyltransferase (GAMT) 0 -
Guillain-Barré Syndrome (Chronic / Acute Inflammatory Polyneuropathy; Guillain Barre Syndrome) 0 G
Gulf War Syndrome 0 -
Gut Fermentation Syndrome 0 -
Gut Motility Disorders (Intractable Vomiting,Severe Constipation) 10 G
Gynecomastia 1 -
Haas Syndrome 0 -
Haemangioma (Optic Nerve Haemangioma,Kasabach-Merrit Syndrome,Haemangio-endothelioma,Haemangio Lymphantioma,Cavernous Haemangioma) 1 -
Haematuria 1 -
Haemochromatosis 0 G
Haemoglobin G Norfolk 0 -
Haemoglobin M 0 -
Haemoglobinaemia 0 -
Haemolytic Anaemia 0 -
Haemolytic Uraemic Syndrome (E Coli Infection) 0 G
Haemophagocytic Anaemia (Virus Associated) 0 -
Haemophagocytic Lymphohistiocytosis 0 -
Haemophilia (Platelet Function Defect,Von Willibrand Disease,Coagulation Defects) 1 G
Haemophilia A 2 -
Haemorrhagic Disease of the newborn 0 -
Haemorrhagic Shock Encephalopathy Syndrome (HSES) 0 -
Haemorrhoids 0 -
Hajdu-Cheney Syndrome (Arthrodentoosteodysplasia,Cheney Syndrome,Acrosteolysis with oesteoporosis and changes in skull and mandible) 7 -
Hallermann-Strieff Francois Syndrome 0 -
Hanhart Syndrome 0 -
Hardcastle Syndrome (Diaphyseal Medullary Stenosis with Malignant Fibrous Histiocytoma) 0 -
Harlequin Ichthyosis 1 -
Hartnup Disease (Tryptophan Malabsorption) 0 -
Hashimoto Encephalitis 2 -
Hashimoto Syndrome (Autoimmune Thyroidism) 5 -
Head Injuries 7 G
Heart and Heart/Lung Transplant 1 G
Heart Defects 34 G
Hecht Syndrome 0 -
Hemihypertrophy 7 -
Hemimegalencephaly (Linear Nevus Sebaceous Syndrome,HME) 10 -
Hemiparesis 1 -
Hemiplegia 35 -
Hennekam Syndrome 1 -
Henoch Schonlein Purpura (HSP,Henoch-Schonlein Purpura) 44 G
Hepatitis B 0 -
Hepatitis C (HVC; Non-A Non-B hepatitis; NANB) 0 -
Hereditary Corroporphyria 0 -
Hereditary Fructose Intolerance 0 -
Hereditary Haemolytic Anaemia 1 -
Hereditary Haemorrhagic Telangiectasia (Telangiectasia,Haemorrhagic Telangectasia,HHT,Rendu-Osler-Weber Syndrome,Osler-Rendu-Weber Syndrome) 5 G
Hereditary Multiple Exostoses 4 -
Hereditary Neuropathy with liability to pressure palsies 1 -
Hereditary Nodular Heterotopia (Periventricular Nodular Heterotopia, Subependial Nodular Hetero) 1 -
Hermaphroditism 0 -
Hernias (Diaphragmatic Hernia + Blockage,Rectus Abdominus Hernia) 2 -
Herniated Disc 0 -
Herpes Encephalitis 5 -
Herpes Simplex Virus 0 -
Heterotopia 2 -
Hidradenitis Supurativa 1 -
Hidrotic Ectodermal Dysplasia 0 -
Hinman Syndrome 0 -
Hippocampus Sclerosis 0 -
Hirayama syndrome (Benign Focal Amyotrophy, Hirayama Syndrome, Juvenile muscular atrophy of the distal upper extremity, Monomelic Amyotrophy) 0 -
Hirschsprung Disease 36 -
Histiocytosis (Hand-Schuller-Christian Disease,Familial Erythrophagocytic Lymphohistiocytosis) 1 G
HIV Infection and AIDS (AIDS,HIV) 0 G
HLA Deficiency Expression 0 -
Hodgkin's Disease (NHL) 0 -
Hoffmann Syndrome (Hypothyroid Myopathy) 0 -
Hollow Visceral Myopathy 5 -
Holoprosencephaly (Semilobar Holoprosencephaly,Semilobar Holoprosencephaly) 25 -
Holt-Oram Syndrome (Atriodigital dysplasia) 17 -
Homocystinuria 1 -
Homonymous Hemianopia 6 -
Hopf Disease (Acrokeratosis Verruciformis; Acrodermatitis Verruciformis) 0 -
Hopkins syndrome 1 -
Horner Syndrome 0 -
Hoyeraal-Hreidarsson Syndrome 2 -
HTLV-1 associated Myelopathy (Jamaican Myelopathy,HAN-TSP,Tropical Spastic Paraparesis) 0 -
Humeroradial Synostosis 0 -
Hunter Disease 0 -
Huntington's Disease (Huntington's Chorea) 2 G
Hurler Disease 1 -
Hydatidiform Mole 0 -
Hydranencephaly 1 G
Hydroa Vaccininforme 0 -
Hydrocephalus (Normal Pressure Hydrocephalus (adult onset)) 87 -
Hydrohidrotic Ectodermal Dysplasia 2 -
Hydromyelia 0 -
Hydronephrosis 5 -
Hyperactivity (Hyperkinetic Disorder,Hyperkinesis) 4 -
Hyperacusis 1 -
Hyperbilirubinaemia 0 -
Hyperekplexia (Startle Disease/Syndrome,Stiff Baby Syndrome) 14 G
Hypereosinophilia Syndrome 2 -
Hyperglycinaemia 0 -
Hyperhidrosis 0 -
Hyperinsulinism (Functional hypoglycaemic syndrome, hyperinsulinism syndrome, organic hyperinsulinism syndrome, Harriss Syndrome, hyperinsulinoma, reactive functional hypoglycaemia.) 2 -
Hyperkalaemic Periodic Paralysis 2 -
Hyperkeratosis 0 -
Hyperlexia 1 -
Hyperlipidaemia 0 -
Hypermobility Syndrome (Hyperlaxity Syndrome) 89 G
Hyperoxaluria (Oxalosis) 1 -
Hyperphosphatasia 0 -
Hypertension 0 -
Hyperthyroidism 1 -
Hypertriglycridaemia 0 -
Hypocalcaemia 0 -
Hypochondroplasia (Hypochondrodysplasia) 14 -
Hypogammaglobulinaemia 0 -
Hypogangliosis 0 -
Hypoglobulinaemia 0 -
Hypoglycaemia 0 -
Hypoglycaemia (Non-diabetic) 1 -
Hypogonadotropic Hypogonadism 0 -
Hypohydrosis 0 -
Hypokalaemic Periodic Paralysis (Gamstorp Disease) 0 -
Hypomagnesemia 0 -
Hypomelanosis of Ito (Incontinentia Pigmenti Achromans) 10 G
Hypoparathyroidism 9 -
Hypophosphatasia 0 -
Hypophosphatemic Rickets (VitaminResistant Rickets M) 4 -
Hypoplastic Left Heart Syndrome 18 G
Hypoplastic Right Heart Syndrome 14 -
Hypopthalamic Dysfunction 1 -
Hypospadias 8 G
Hyposperda 0 -
Hypothalamic Hamartoma 3 G
Hypothyroidism 17 -
Hypotonia (Benign Congenital Hypotonia,Amyotonia Congenita) 83 G
Hypoxic Brain Damage 5 -
Hypoxic Ischaemic Encephalopathy 26 -
Hypsarrhythmia 0 -
I Cell Disease 0 -
ICF 0 -
Ichthyosis 5 G
Ichthyosis Erythroderma 1 -
Ichthyosis Lamellar 1 -
Ichthyosis Vulgaris 1 -
Idiopathic Hypereosinophilia Syndrome 2 -
Idiopathic Hypoparathyroidism 0 -
Idiopathic Inflammatory Myopathies 0 -
Idiopathic Nail Atrophy 0 -
Idiopathic Optic Atrophy 1 -
Idiopathic Pulmonary Haemosiderosis 3 -
Idiopathic Scrotal Oedema 0 -
IgA Deficiency 6 -
IgA Nephropathy (Berger Syndrome) 1 -
IGG Deficiency 4 -
Ileostomy 2 -
Immune (Idiopathic) Thrombocytopenic Purpura D (Idiopathic Thrombocytopenia Purpura,ITP) 0 -
Immune Disorders 2 -
Immunodeficiency Centromefic Instabilities and Fac 0 -
Immunodeficiency with Partial Albinisim 0 -
Immunoglobulin Light Chain Deficiency 0 -
Imperforate Anus 46 -
Impulse Control Disorders 0 -
Inclusion Body Myositis (inflammatory myopathy) 0 -
Incontinence (Urge Incontinence,Encopresis,Detrusor Instability,Enuresis) 4 -
Incontinentia Pigmenti (Block-Sulzberger Syndrome) 16 -
Infantile Desmoplastic Ganglioglioma 0 -
Infantile Fibromatosis 0 -
Infantile Pyknocytosis 0 -
Infantile Systemic Hyalinosis 0 -
Inflammatory Linear Verrucous Epidermal Nevus (ILVEN) 1 -
Interleukin Deficiency 0 -
Intermediate SMA 1 -
Intestinal Atresia 0 -
Intestinal Conditions (Protein leakage from Bowel,Neurogenic Bladder) 7 -
Intestinal Lymphangiectasia 9 -
Intestinal Pseudo Obstruction 1 -
Intra Cerebral Whipples Disease 0 -
Intrauterine Growth Retardation 2 -
Intrinsic Platelet Defect 0 -
Intussuception 0 -
Ion Channel Disorder (Calcium Ion Channel Disorder) 0 -
Irritable Bladder (Urge Incontinence) 0 -
Irritable Bowel Syndrome 6 G
Isaac Syndrome (Neuromyotonia, Myokymia) 5 -
isodicentric 15 (idic(15)) 10 -
Isolated ACTH Deficiency Isovaleric Acidaemia 0 -
Isolated Gonadotropin Deficiency 0 -
Isolated Lissencephaly Sequence 1 -
Isotretinoin Embryopathy 0 -
Ivemark Syndrome (Congenital Absence of Spleen,Right Atrial Isomersism) 1 G
Jacksonian Seizures 0 -
Jacobs Syndrome (Arthropathy-Campodactyly Syndrome) 0 -
Jacobsen Syndrome (11q- syndrome ) 8 -
Jaffe-Lichtenstein-Sutro Syndrome (Pigmented Villonodular synovitis) 1 -
Jansen Syndrome 0 -
Jansky-Bielschowsky Disease (Late Infantile Type) 0 -
Japanese Encephalitis 0 -
Jarcho-Levin Syndrome (Spondylo Thoracic Dysplasia) 8 -
Jaundice 0 -
Jejeunal Atresia 0 -
Jessner's Lymphocytic infiltration of the skin 17 -
Jeune Syndrome (Asphyxiating Thoracic Dysplasia,Jeune Thoracic Dysplasia,Asphyxiating Thoracic Dystrophy,Jeune Thoracic Dystrophy) 0 -
Job's Syndrome (Hyper IgE Syndrome) 24 -
Johanson-Blizzard Syndrome 8 -
Joubert Syndrome (Familial Cerebellar Vermis Agenesis) 19 -
Junctional Epidermolysis Bullosa (Junctional EB) 0 -
Juvenile Angiofibroma (Angiofibroma; Juvenile Nasopharyngeal Angiofibroma) 0 -
Juvenile Bnephronophthisis 0 -
Juvenile Hyaline Fibromatosis (Systemic Juvenile Hyalinosis) 2 -
Juvenile Myoclonic Epilepsy 5 -
Juvenile Nephronophthisis 2 -
Juvenile Osteoporosis (Osteoporosis) 3 G
Juvenile Respiratory / Laryngeal Papilomatosis (Papilloma) 2 -
Juvenile Retinoschisis 3 -
Juvenile Spondylitis 1 -
Kabuki Syndrome (Kabuki-Make Up Syndrome) 37 -
Kallman Syndrome 1 -
Kapur-Toriello Syndrome 0 -
Kartagener Syndome 0 -
Kaufman Oculocerebral Facial Syndrome (Kaufman Syndrome) 0 -
Kaufman-Mckusick Syndrome 0 -
Kawasaki Disease (Mucocutaneous Lymph Node Syndrome) 0 G
KBG Syndrome 2 -
Kearne-Sayer Disease 6 -
Kearns-Sayer Disease 3 -
Kearns-Sayre Syndrome 8 -
Kennedy Disease 2 -
Kenny Caffey syndrome (Kenny Disease, Kenny Syndrome, Congenital Medullary Stenosis, Tubular Stenosis; Kenny Type) 0 -
Keratoconus 2 G
Keratoderma (Palmoplantar Keratoderma; Greithers Syndrome; Hyperkenatosis Keratoderma; Keratosis Palmaris et Plantaris Hereditarium/Unna-Thorst Disease; Keratosis Pilaris; Keratosis Pilaris Atrophicus) 3 -
Keratosis Pilaris Atrophicans Facies 1 -
Kernicterus (Bilirubin Encephalopathy) 2 -
Ketogenic Diet 0 -
KID Syndrome (Keratitis-Ichthyosis-Deafness) 0 -
Kidney Disease 7 G
Kidney Dysplasia 4 -
Kienbocks 0 -
Kimura disease 0 -
Kinematic Imbalances due to Suboccipital Strain (KISS Syndrome) 0 -
King Syndrome 0 -
Kjellin Syndrome (Spastic Paraplegia and Retinal Degeneration ) 0 -
Klein-Levin Syndrome 2 -
Klein-Waardenburg Syndrome 0 -
Klinefelter Syndrome (XXXXY Syndrome,XXY Syndrome) 13 G
Klippel-Feil Syndrome (Congenital Osseous-torticollis,MURCS Associations,Brevicollis,Congenital Cervico-thoracic Vertebrae Synostosis) 37 -
Klippel-Trenaunay Syndrome (Parkes-Weber Syndrome,Angio Osteohypertrophy) 10 -
Kluver-Bucy syndrome 1 -
Kniest Syndrome (Metatrophic Dwarfism Type II) 2 -
Knobloch Syndrome 0 -
Kohler's Disease 0 -
Krabbe Disease 6 -
Kufs Disease (Adult type) 0 -
Kugelberg-Welander Disease 0 -
L1 Syndrome (L1 Spectrum; L1 Disease; CRASH syndrome. Includes: HSAS; MASA syndrome; SPG1 (X-linked complicated hereditary spastic paraplegia type 1); X-linked complicated corpus callosum agenesis.) 1 -
L2-hydroxyglutaric aciduria 0 -
Labial Fusion 0 -
Labyrinthitis 0 -
Lacrimation Failure 0 -
Lactic Acidosis 2 -
Lactose Intolerance (Hypolactasia) 3 -
LAD I Deficiency (Leukocyte Adhesion Defect (I)) 0 -
LAD II Deficiency (Leukocye Adhesion Defect (II)) 0 -
LADD Syndrome (Lacrimo-Auriculo-Dento-Digital Syndrome) 3 -
Lafora Body Disease (Myoclonic Progressive Familial Epilepsy) 0 -
Lance Adams Syndrome 2 -
Landau-Kleffner Syndrome 11 G
Langer Mesomelic Dysplasia 3 -
Langer-Giedion Syndrome (Trichorhinophalangeal Syndrome Type 2) 7 -
Langerhan's Cell Histiocytosis 4 -
Larsen Syndrome 12 -
Larsen-Johansen Syndrome 0 -
Laryngeal Cleft (Laryngotracheoesophageal Cleft) 10 -
Laryngeal Dystonia 0 -
Laryngeal Web 2 -
Laryngomalacia (Epiglottopexy) 6 -
Latex Allergy 1 -
Lazy Leucocyte Syndrome 0 -
Lead Poisoning 1 -
Learning Disability 55 G
Leber's Congenital Amaurosis (Leber Amaurosis) 24 G
Leber's Optic Neuropathy (Leber's Optic Atrophy,Leber Hereditary Optic Atrophy,Leber Optic Atrophy) 2 -
Leigh's Disease 25 -
Leiner Syndrome (Erythroderma Desquamatirum) 0 -
Lennox-Gastaut Syndrome 28 G
Leopard Syndrome (Multiple Lentignes Syndrome) 7 -
Leprechaunism 0 -
Leptin Deficiency 0 -
Lesch-Nyhan Syndrome 16 -
Letterer-Siwe Disese 0 -
Leucocyte Adhesion Defect 0 -
Leukaemia (Chronic Myelomonocytic Leukaemia,CMML) 2 -
Leukodystrophy 15 -
Leukopaenia 0 -
Levine-Critchley syndrome (Choreoacanthocytosis; Chorea-acanthocytosis; ChAc) 0 -
Lewy Body Disease 0 -
Leydig Cell Aplasia 0 -
LGL 0 -
Lhermitte Duclos Syndrome (Dysplastic Ganglioma) 2 -
Li-Fraumeni Syndrome 5 -
Lichen Planus (Hallopeau's 1) 0 -
Lichen Sclerosus (Lichen Sclerosus et Atrophicus) 0 -
Liddle Syndrome 0 -
Limb Abnormalities 5 -
Limb Girdle Muscular Dystrophy 0 -
Linear IgA 1 -
Linear IgA Bullous Dermatosis 0 -
Lipodystrophy (Berardinelli Lipodystrophy,Mandibuoacral Dysplasia,MAD,Familial Partial Lipodystrophy) 0 -
Lipomyelomeningocele 3 -
Lissencephaly (ILS) 15 G
Listeriosis 0 -
Little Disease 0 -
Liver Disease (Obstetric Cholestasis,Hyperbilirubinaemia,Wilson Disease) 2 G
Lobster Claw Deformity 1 -
Loeys-Dietz Syndrome (LDS; Loeys Dietz Syndrome; Loeys-Dietz Aortic Aneurysm Syndrome) 1 -
Loin Pain Hematuria 0 -
Loken-Senior Syndrome 1 -
Long Chain 3 Hydrocylacyl COA Dehydrogenase defice 0 -
Long QT Syndrome (Jervell-Lange-Nielsen Syndrome,Romano-Ward Syndrome) 2 G
Lordosis 1 -
Louping Ill Virus 0 G
Lowe Syndrome (Oculocerebrorenal Syndrome) 1 G
Lower Limb Abnormalities (Hip Dysplasia,Multiple Epiphyseal,Dysplasia) 16 G
Lown-Ganong-Levene Syndrome 0 -
Lowry-Wood Syndrome 0 -
Lujan-Fryns Syndrome (X-Linked Mental Retardation-Marfinoid Habitus Syndrome) 1 -
Lumbo-Sacral Plexopathy 0 -
Lung Cysts (Cystic Lung Syndrome) 0 -
Lung Diseases (Spontanous Pneumothorax,Pulmonary Fibrosis) 3 G
Lupus (SLE,Systemic Lupus Erythematosis) 4 G
Lyme Disease 0 -
Lymophoedema (Nonne-Milroy-Meige Syndrome; Milroy's) 2 G
Lymphangioleiomyomatosis 0 -
Lymphangioma (Lymphangioma of Abdomen,Lymphangioma of Tongue) 9 -
Lymphangiomatosis of the Bone 7 -
Lymphoedema Microcephaly and Chorioretinopathy 0 -
Lymphoid Nodular Hyperplasia 0 -
Lymphoma 0 G
Macleod Syndrome 0 -
Macro-adenoma 0 -
Macrocephaly (Benign Familial Macrocephaly,Familial Macrocephaly) 7 -
Macrocephaly - Cutis Marmorata Telangiectatica Congenita (M-CMTC) 22 G
Macular Disease 0 G
Macular Dystrophy 1 -
Madelungs Deformity 9 -
Maffucci Syndrome 2 -
Mainzer-Salidino Retinal Dysplasia 0 -
Majewski Osteodysplastic Primordial Dwarfism ( Caroline Crachami osteodysplastic primordial dwarfism, MOPD) 2 -
Majewski Osteodysplastic Primordial Dwarfism Type II ((MOPD II)) 0 -
Majewski Syndrome 0 -
Mal de Debarquement Syndrome 0 -
Male Balding (Male Pattern Hair Loss; Androgenetic Alopecia; male hairloss) 0 -
Malignant Histiocytosis 0 -
Malignant Hyperthermia (Malignant Hyperpyrexia) 3 G
Malpuech Facial Clefting Syndrome (Malpuech Syndrome) 0 -
Manic Depression 0 -
Maple Syrup Urine Disease 0 -
Marcus Gunn Syndrome (Jaw Winking Syndrome) 39 -
Marden-Walker Syndrome 1 -
Marfan Syndrome 5 G
Marinesco-Sjorgen Syndrome 0 -
Marion's Syndrome 0 -
Mariteaux Lamy Disease 0 -
Maroteaux-Spranger-Wiedemann (Metatrophic Dwarfism Type I) 0 -
Marshall Syndrome 0 -
Marshall-Smith Syndrome 3 -
Martsolf Syndrome 0 -
Maternal PKU (Maternal Phenylkentouria) 1 -
Maturity Onset Diabetes of the Young 0 -
Maxillonasal Dysplasia (Binder Syndrome) 0 -
May-Hegglin Anomaly 0 -
Mayer-Rokintansky-Kuster-Hauser 0 -
MCAD 10 -
McArdle disease 0 -
McCune-Albright Syndrome (Albright Syndrome,Polyostotic Fibrous Dysplasia) 18 -
McLeod syndrome (McLeod Acanthocytosis syndrome) 0 -
Meckel-Gruber Syndrome (Meckel Syndrome) 19 -
Medium Chain Acyl Co-Enzyme Dehydrogenase 1 -
Medium Chain Acyl Co-Enzyme Dehydrogenase Deficien 1 -
Medullary Sponge Kidney 0 -
Medulloblastoma 1 -
Medulloepithelioma (Diktyoma) 0 -
Meesmann Syndrome 0 -
Meesmanns Syndrome 0 -
Megacystis-microcolon-intestinal Hypoperistalis Sy 3 -
Megalencephaly (Macrencephaly) 0 -
Megalencephaly Polymicrogyria Polydactyl Syndrome 1 -
Megaloblastic Aaemia 0 -
Megalocornea Mental Retardation Syndrome 0 -
Melanocytic Naevus 0 -
MELAS (Melas Syndrome ) 1 -
Melkersson Rosenthal Syndrome 1 -
Melnick-Needles Syndrome (Osteodysplasy,Melnick-Needles Osteodysplasty) 0 G
Melorheostosis 0 -
Menière's Disease (Endolymphatic Hydrops) 0 -
Meningioma 0 -
Meningitis 5 G
Meningococcal Septicaemia 1 -
Meningoencephalomyelitis 0 -
Menkes Syndrome (Kinky Hair Syndrome) 1 -
Mental Handicap 2 -
Mental Health (Post Natal Depression) 2 G
Mental retardation aphasia shuffling gait adducted thumbs (MASA Syndrome; Adducted thumb syndrome) 1 -
Mesangiocapillary Glomerulonephritis 0 -
Metabolic Aciduria 1 -
Metabolic Diseases 6 G
Metachondromatosis 0 -
Metachromatic Leukodystrophy 2 -
Metaphyseal Acroscyphodysplasia 0 -
Metaphyseal Anadysplasia 0 -
Metaphyseal Chondrodysplasia 1 -
Metaphyseal Chondrodysplasia (Type McKusick) (Cartilage Hair Hypoplasia) 1 -
Methaemogloulinaemia 0 -
Methionine Adenosyl Transferase 0 -
Methionine Synthase Deficiency 0 -
Methylenetetrahydrofolate Reductase Deficiency 0 -
Methylglutaconic Aciduria 1 -
Methylmalonic Aciduria 3 -
Mevalonic Aciduria 0 -
Mibellis (Porokerotosis) 0 -
Microcephaly 85 G
Microcephaly and Lymphoedema 0 -
Microgyria 0 -
Micropenis 4 -
Microphthalmia 5 -
Microtia 20 -
Microvillus Atrophy 0 -
Mid-Aortic Syndrome 0 -
MIDAS Syndrome (Microphthalmia with Linear Skin Defects, MLS, Microphthalmia, Dermal Aplasia and Sclerocornea) 0 -
Migraine (Vertebrobasilar Migraine) 3 G
Mild SMA 0 -
Miller Dieker Syndrome 2 -
Miller Syndrome 0 -
Miller-Fisher Syndrome 0 -
Minimal Brain Dysfunction 1 -
Mirror Movements 0 -
Miscarriage 1 -
Mitchell's II Syndrome (Barraquer-Simons Syndrome,Partial Lipodystrophy) 4 -
Mitochondrial Cytopathies (Pearson Syndrome,Neuropathy, Ataxia, Retinitis Pigmentosa) 5 -
Mitochondrial Myopathy 12 -
Mitral Valve Prolapse Syndrome (Barlow Syndrome) 1 -
Mitral Valve Stenosis 0 -
Mixed Connective Tissue Disease 0 -
Moebius Sequence/Syndrome 15 -
Molluscum Contagiosum 0 -
Molybdenum Cofactor Deficiency 0 -
Momo Syndrome (Macrosomia Obesity Macrocephaly Ocular Abnormality Syndrome) 6 -
Monamine Oxidase Deficiency (MOAD) 0 -
Monarticular Arthritis 0 -
Monilethrix Syndrome 0 -
Monoclonal Gammopathy 0 -
Monoclonal Globulinopathy of Unknown Significance 1 -
Mononeuritis Multiplex (Neuritis Multiplex Cutanea) 0 -
Mononeuropathy 0 -
Monosomy 1p36 deletion syndrome 28 -
Moore-Federman Syndrome 1 -
Morning Glory Syndrome 0 -
Mosaic Down's Syndrome 2 -
Mosaic Variegated Aneuploidy 0 -
Mosaic XO/XY Turner Syndrome 9 -
Motor Neurone Disease (Progressive Bulbar Palsy,Progressive Muscular Atrophy,Amyotrophic Lateral Sclerosis) 1 G
Moulded Baby Syndrome 0 -
Mowat-Wilson Syndrome (Microcephaly-Mental Retardation syndrome) 14 G
Moya Moya Syndrome (Leeds Syndrome) 1 -
Muckle-Wells Syndrome (Urticaria-Deafness-Amyloidosis Syndrome, UDA Syndrome) 1 -
Mucolipidosis 1 -
Mucopolysaccharide Diseases (Mannosidosis,Sanfilippo syndome,ML II,ML IV,Multiple Sulphatese Deficiency,Morquio Disease,ML III) 4 G
Mulibrey Nanism 0 -
Multi Resistant Staphlococcus Aureus (MRSA) 0 -
Multi-Infarct Dementia 0 -
Multicore/Minicore Disease (Minicore Disease) 0 -
Multicystic Dysplastic Kidney 7 -
Multifocal atrial tachycardia 0 -
Multifocal Infantile Myofibromatosis 0 -
Multifocal Motor Neuropathy 1 -
Multiple Aneurysms 0 -
Multiple Births (Siamese Twins,Twins with Special Needs) 2 G
Multiple Chemical Sensitivity 0 -
Multiple Endocrine Neoplasia 0 -
Multiple Endocrine Neoplasia (Type I) 0 G
Multiple Endocrine Neoplasia (Type II) 0 G
Multiple Epitheliomata 0 -
Multiple Haemangioma 0 -
Multiple Hormone Deficiencies 1 -
Multiple Pterygum Syndrome 0 -
Multiple Sclerosis (Encephalomyelitis Disseminated - Acute, MS) 7 G
Multiple System Atrophy 0 G
Multisystem Vasculitis Disorder 0 -
Munchausen Syndrome 0 -
Muscle Eye Brain Disease (MEB, Santavuori's syndrome) 0 -
Muscular Dystrophy 1 G
Myalgic Encephalomyelitis (Chronic Fatigue Syndrome, ME , Post Viral Fatigue Syndrome, Viral Fatigue Syndrome) 9 G
Myasthenia Gravis (Lambert-Eaton Myasthenia Syndrome,Congenital Myasthenia) 5 -
Mycobacterium Avium 0 -
Mycobacterium Avium Intracellulare 0 -
Mycoplasm Encephalitis 1 -
Mycosis Fungoides 0 -
Myelin Deficiency (Delayed Myelination) 14 -
Myelodysplastic Syndrome 1 -
Myocarditis 0 -
Myoclonic Astatic Epilepsy (Doose Syndrome) 5 -
Myoclonic Epilepsy 21 -
Myoclonus 0 -
Myokymia with Periodic Ataxia (Neuromyotonia and Myokymia) 0 -
Myoshi Myopathy 0 -
Myotonic Dystrophy (Steinert Syndrome) 22 -
Myotonic Periodic Paralysis 0 -
Myotubular Myopathy (Centronuclear Myopathy) 4 -
Naevus Sebaceous (Nevus Sebaceous) 0 -
Nager Syndrome (Acrofacial dysostosis) 3 -
Nail Dysplasia (20 Nail DystrophyDenny) 0 -
Nail-Patella Syndrome (Turner-Kieser Syndrome,Hereditary Osteo-Onycho Dysplasia,Fong's Disease) 11 G
Nance-Horan Syndrome 0 -
Narcolepsy (Gelineau Syndrome) 5 G
Narcoplexy (Cataplexy) 0 -
NCL 0 -
Near Drowning 0 -
Necrotising Enterocolitis 6 -
Necrotising Fasciitis 0 -
Nemaline Myopathy 0 -
Neonatal Abstinence Syndrome 0 -
Neonatal alloimmune thrombocytopenia (Fetomaternal alloimmune thrombocytopenia ; NAIT; FMAIT) 0 -
Neonatal Disorders 1 -
Nephrocalcinosis 0 -
Nephrogenic Diabetes Insipidus 2 -
Nephrotic Syndrome (Nephrosis) 26 G
Nervous Tic 0 -
Netherton Syndrome 8 -
Neualonic Aciduria 0 -
Neuhauser Syndrome 0 -
Neuralgic Amyotrophy (Parsonage Turner Syndrome) 0 -
Neuroacanthocytosis 0 G
Neuroaxonal Dystrophy (Seitelberger Disease,Infantile Neuroaxonal Dystrophy) 0 -
Neuroblastoma 3 G
Neurocutaneous Melanosis 0 -
Neuroectodermal Disorder 0 -
Neurofibromatosis (Von Recklinghausen Disease) 47 G
Neurointestinal Dysplasia 1 -
Neurological Features 0 -
Neuromuscular Disorders 2 -
Neuronal Ceroid Lipofuscinosis Type 1 (Infantile) 1 -
Neuronal Ceroid Lipofuscinosis Type 2 (late infant 0 -
Neuronal Ceroid Lipofuscinosis Type 3 (Juvenile) 0 -
Neuronal Dysplasia 0 -
Neuronal Migration Disorder (Double Cortex Syndrome,Neuromigratory Disorder,Subcortical band heteretropia) 0 -
Neuropathic Pain Disorder 0 -
Neurotransmitter disease 0 -
Neurovisceral Storage Disease 0 -
Neutrophil Disorders 1 -
Neville Disease 0 -
Nicolaides-Baraitser Syndrome (SPARSE HAIR AND MENTAL RETARDATION) 5 -
Niemann-Pick Disease (Sphingomyelin Lipidosis) 4 G
Niemann-Pick Disease Type A 0 -
Night Terrors 0 -
Nijmegan Breakage Syndrome 0 -
Non Functional Bowel 4 -
Non Verbal Learning Difficulty (NLD) 19 -
Non- Bullouos Ichthyosiform Erythroderma 0 -
Non-Bullous Ichthyosiform Erythroderma 1 -
Non-Epileptic Seizures (Pseudsoseizures) 4 -
Non-Hodgkin's Lymphoma 0 -
Non-Ketotic Hyperglycaemia 1 -
Noonan Syndrome 38 -
Norman Roberts Syndrome 4 -
Normokalaemic Periodic Paralysis 0 -
Norrie Disease (Norries) 4 -
Nystagmus (Spasmus nutans,Congenital Idiopathic Nystagmus) 22 G
Nystagmus and Astigmatism 7 -
Obesity 1 -
Obesity-Hypoventilation Syndrome 0 -
Obsessive Compulsive Disorder (OCD) 18 G
Obstetric Cholestasis 0 -
Ocular Albinism 1 -
Ocular Cerebral Hypopigmentation Syndrome 0 -
Ocular Disorders (Drusen Syndrome) 0 -
Ocular Pemphigoid 1 -
Oculo-Dento-Digital Syndrome 6 -
Oculocerebrocutaneous Syndrome (Delleman Syndrome) 1 -
Oesophagael dysmotility (Esophageal Motility disorders, esophageal dysmotility) 0 -
Oesophageal Atresia 0 -
Oesophageal dysmotility (Esophageal Motility disorders; esophageal dysmotility) 0 -
OHDO Syndrome 4 G
Ohtahara Syndrome (Early Infantile Epileptic Encephalopathy,EIEE) 10 G
Okihiro Syndrome 2 -
Olivopontocerebellar Degeneration/Atrophy 0 -
Ollier's Disease (Enchondromatosis) 39 -
Olmodysplasia 0 -
Omenn's Syndrome 5 -
Opercular Syndrome (Foix Chavany-Marie Syndrome) 0 -
Opitz BBB Syndrome (BBB Syndrome; Opitz G Syndrome; Opitz-Frias Syndrome; dysphagia-hypospadias syndrome; hypertelorism-oesophageal abnormality; hypospadias-dysphagia syndrome. ) 10 -
Opitz Syndromes 3 -
Opitz-Christian Syndrome (Hypertelorisim-Hypospadias,Christian-Opitz Syndrome) 0 -
Optic Glioma 4 -
Optic Nerve Atrophy 6 -
Optic Nerve Dysplasia 2 -
Optic Nerve Hypoplasia 20 -
Optic Neuritis 1 -
Optic Neuromyelitis 0 -
Oral Dyspraxia 22 -
Oral-Facial-Digital Syndrome Type VI 0 -
Oral-Facial-Digital Syndromes (OFD Syndrome,Varadi-Papp Syndrome,Mohr Syndrome,Orofaciodigital Syndrome) 3 -
Orchidoplastyy 0 -
Organic Acidaemias 1 -
Organic Brain Dysfunction 1 -
Organo-Axial Malrotation of the Stomach 1 -
Ornithinaemia 0 -
Ornithine Transcarbamylase Deficiency (OTC) 13 -
Oromandibular Dystonia 0 -
Osgood Schlatter Syndrome 0 -
Osteoarthritis 11 -
Osteochondritis of the Upper Femoral Epiphysis 0 -
Osteofibrous Dysplasia 4 -
Osteogenesis Imperfecta 7 -
Osteoitis Pubis 1 -
Osteomyelitis (Benign Relapsing Multi-Focal Osteomyelitis) 0 -
Osteopathia Striata 7 -
Osteopenia 0 -
Osteopetrosis (Albers-Schonberg Syndrome) 0 G
Osteopoikilosis 0 -
Osteoporosis 2 -
OTA's Syndrome (Ocular Dermal Melanocytosis) 0 -
Othello Syndrome (morbid jealousy,conjugal paranoia,erotomania,Clerambault syndrome,folie à deux,late paraphrenia) 2 -
Otitis Media 0 -
Oto-palato-digital Syndrome 0 -
Otofaciocervical Syndrome 0 -
Otosclerosis 0 -
Owren Disease 0 -
Oxalosis 1 -
Oxycephaly (Turricephaly) 0 -
Oxygen Dependency 0 -
Pachydermoperiostosis (Touraine-Solenti-GolT Syndrome) 0 -
Pachygyria 4 -
Pachymyelitis 0 -
Pachyonichia Congenita 0 -
Paget's Disease (Paget's Disease of the Bone; Paget disease) 0 G
Palatal Myoclonus 0 -
Pallidol Degeneration 0 -
Pallister Killian Syndrome 7 G
Pallister-Hall Syndrome 1 -
Panayiotopoulos syndrome (early-onset benign partial epilepsy with occipital paroxysms) 0 -
Pancreatitis 0 G
PANDAS (Paediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcal Infections) 3 -
Panhypopituitarism 10 -
Panniculitis 0 -
Pantothenate Kinase Associated Neurodegeneration (PKAN; Neurodegeneration with Brain Iron Accumulation; Hallervorden-Spatz syndrome) 0 -
Paraganglioma 0 -
Paraneoplastic Syndrome 0 -
Paraplegia 1 -
Parinauds Syndrome 0 -
Parkinson's Disease (Parkinsonism,Parkinson's Plus) 1 G
Paroxysmal Cold Hemoglobulinuria 0 -
Paroxysmal extreme pain disorder (PEPD,FRP,Hayden-Grossman Syndrome; Familial rectal pain) 4 -
Paroxysmal Nocturnal Hemoglobinurea 0 -
Paroxysmal Torticollis 0 -
Parry-Romberg Syndrome (Romberg Syndrome) 1 -
Partial Paralysis 0 -
Partial Villus Atrophy 0 -
Parvo-virus infection B19 (Fifth Disease,Slapped cheek/jaw Syndrome) 0 -
Patau Syndrome (Pseudotrisomy 13,Trisomy 13,Chromosome 13 Trisomy) 2 G
Pathological Demand Avoidance Syndrome (PDA) 15 G
Patin Syndrome 0 -
Patterson-Brown-Kelly Syndrome 0 -
Patterson-Stevenson-Fontaine-Syndrome 0 -
Pauci-articular Arthritis 0 -
PCD 0 -
Pearson Syndrome 1 -
Pectus Excavatum 3 -
PEHO Syndrome (Progressive Encephalopathy with Edema, Hypsarrythmia Optic Atrophy) 2 -
Pelizaeus-Merzbacher Syndrome 3 -
Pemphigus Vulgaris 1 G
Pena-Shokeir I Syndrome (Fetal Akineasia Deformation Sequence) 0 -
Pena-Shokeir II Syndrome (COFS Syndrome,Cerebro-Oculo-Facio-Skeletal Syndrome) 0 -
Pendred Syndrome 6 -
Penta X Syndrome (XXXXX Syndrome) 0 -
Pentalogy of Cantrell 13 -
Peripheral Neuropathy (Polyneuropathy,Chronic Hereditary Polyneuropathy,Mononeuritis Multiplex) 2 G
Peripheral Primitive Neuroectodermal Tumour 0 -
Periventricular Leukomalacia 29 -
Perlman Syndrome 0 -
Pernicious Anaemia 1 -
Peroxisomal Defect 0 -
Persistant Hyperplastic Primary Vitreous 2 -
Perthes Disease (Larsen-Johansson Syndrome,Osteochondritis of the Upper Femoral Epiphysis,Epiphyseal Dysplasia) 33 G
Pervasive Refusal Syndrome 7 -
Pes Cavus 0 -
Peter's Anomaly 7 -
Peter's Plus Syndrome (Peter's Plus Anomaly) 11 -
Peutz-Jeghers Syndrome (Multiple Poliposis) 0 -
PFAPA Syndrome 1 -
Pfeiffer Syndrome 5 -
Phacomoatosis Pigmentokeratotica 1 -
Phaeochromocytoma 0 -
Phelan-McDermid Syndrome (Deletion 22q13 syndrome) 11 -
Phenylketonuria (PKU) 3 G
Pheochromocytoma 0 -
Phobias 1 -
Phocomelia 0 -
Photosensitivity 0 -
PICA 1 -
Pickwickian Syndrome 0 -
Pierpont Syndrome ( Plantar lipomatosis; unusual facial phenotype and developmental delay) 3 -
Pierre Robin Syndrome 22 -
Pigment Epithelium retinal detachment 0 -
Pilocystic Astrocytoma 0 -
Pinealoma 0 -
Piriton Allergy 0 -
Pitt-Hopkins Syndrome 9 -
Pitt-Rogers-Danks Syndrome (Pitt Syndrome) 0 -
Pituitary Deficiency 3 -
Pituitary Disorders (Hypopituitarism,Diabetes Insipidus) 7 G
Pityriasis Ruba Pilaris 0 -
Pityriasis Versicolor 0 -
Plagiocephaly 3 -
Plasminogen Activator Deficiency 0 -
Plastic Bronchitis 0 -
Platelet Function Disorders 1 -
Platelet Storage-Pool Disease 0 -
Pleuro-pulmonary blastoma 0 -
Plott Syndrome 0 -
Pneumatosis Cystoides Intestinalis 0 -
Pneumonia 0 -
POEMS Syndrome (Crow-Fukase Syndrome) 0 -
Poisoning 1 -
Poland Syndrome 0 G
Poliomyelitis (Infantile Paralysis) 3 G
Pollitt Syndrome 0 -
Polumyalgica Rheumatica 0 -
Polyarteritis Nodosa (Kussmaul-Maier Syndrome; Periarteritis Nodosa) 4 -
Polyarthritis 1 -
Polyarticular Arthritis 6 -
Polychondritis 1 -
Polycystic Kidney 0 G
Polycystic Kidney and Lung Hypoplasia 0 -
Polycystic Ovaries 2 G
Polycythemia 0 -
Polycythemia Vera 1 -
Polydactyly 1 -
Polymicrogyria 12 -
Polymorphic Light Eruption (PLE) 0 -
Polyneuropathy 0 -
Polysplenia (Bilateral left-sidedness) 0 -
Pompe Disease 1 -
Pompholyx 0 -
Pontocerebellar Hypoplasia 21 -
Popliteal Pterygium Syndrome (Popliteal Web Syndrome) 7 -
Porencephalic cyst 9 -
Porencephaly (Cystic Encephalomalacia) 9 -
Porphyria 0 G
Porphyria Cutanea Tarda 0 -
Portal Hypertension 0 -
Portal Vein Interopathy 0 -
Post Polio Syndrome 2 -
Post Polymorhous Corneal Dystrophy 0 -
Post Traumatic Stress Disorder 3 -
Posterior Urethral Valves (PUV) 5 -
Postgastrectomy Dumping Syndrome 0 -
Posthypoxic Myoclonus 0 -
Potter Syndrome (Oligohydramnios) 1 G
Powassan Virus 0 G
Prader-Willi Syndrome (Prader-Willi-Labhart) 15 G
Pre-eclampsia (HELLP,EPH Gestosis,Metabolic Toxaemia of Late Pregnancy,Pre-eclamptic Toxaemia,Pregnancy Induced Hypertension,Toxaemia in pregnancy) 5 G
Pre-Natal Depression 0 -
Preauricular Pits 1 -
Premature Ejaculation 0 -
Premature Sexual Maturation (Precocious Puberty) 3 G
Pressure Palsy 0 -
Presumed Ocular Histoplasmosis 0 -
Primary Ciliary Dyskinesia (Immotile ciliary syndrome,Immotile ciliary dysfunction) 2 G
Primary Hypoparathyroidism 1 -
Primary Immune Deficiencies (C1 Inhibitor deficiency; Leukocyte Adhesion Defect; Interferon Gamma Deficiency; ) 5 G
Primary Lateral Sclerosis 0 -
Primary Pulmonary Hypertension 4 G
Prion Diseases 0 -
Proboscis Lateralis 0 -
Proctalgia Fugax 1 -
Progeria 0 -
Progeroid Syndrome (Neonatal) 0 -
Progressive Multifocal Leukoencephalopathy 0 -
Progressive Myoclonus Epilepsy 1 -
Progressive Osseous Heteroplasia 0 -
Progressive Supranuclear Palsy (Richardson-Steele-Olszewski Syndrome) 0 G
Prolactinoma 0 -
Prolapsed Rectum (Prolapsed Bowel) 0 -
Prolapsed Umbilical Cord 0 -
Prolapsed womb 0 -
Properdin Deficiency 0 -
Propionic Acidaemia 2 -
Propriospinal Myoclonus 0 -
Protein C Deficiency 0 -
Protein Losing Enteropathy 1 -
Protein S Deficiency 2 -
Proteus Syndrome 9 G
Protruding Ears 0 -
Proximal Femoral-Focal Deficiency 21 -
Prune Belly Syndrome 13 G
Pschogenic cough 0 -
Pschosomatic Illness 0 -
Pseudo Xanthoma Elasticum (PXE) 0 -
Pseudo-Bulbar Palsy 1 -
Pseudo-Hypoaldosteronism 3 -
Pseudoachondrodysplasia 1 -
Pseudoachondroplasia 2 -
Pseudoarthrosis (Congenital Pseudoarthrosis) 2 -
Pseudocholinesterase Deficiency 4 -
Pseudodiastrophic Dysplasia 1 -
Pseudoglioma 0 -
Psoriasis 0 G
Psoriatic Arthropathy 1 G
Psuedotoxoplasmosis Syndrome 0 -
Psychological Disorders 0 -
Psychosis 3 -
Pulmonary Alveoli Mocroliathiasis (Harbitz) 0 -
Pulmonary Arteriovenous Malformation (Arteriovenous Malformation of the Lung; Pulmonary AVM; Lung AVM) 1 -
Pulmonary Atresia 4 -
Pulmonary atresia with intact ventricular septum (PAIVS) 0 -
Pulmonary Eosinophilia 0 -
Pulmonary Haemosiderosis 2 -
Pulmonary Hypertension 2 -
Pulmonary Hypoplasia 1 -
Pulmonary Stenosis 5 -
Pulmonary Vascular Diseases in Childhood (Pulmonary veno-occulusive disease,Invasive Pulmonary Capillary Haemangiomatosis,Embolic pulmonary vascular disease) 0 -
Pulmonary Vein Stenosis 0 -
Purine and Pyrimidine Metabolic Diseases (Myoadenylate Deaminase Deficiency,Gout (Purine)) 0 -
Purine Nucleoside Phosphorylase Deficiency (PNP) 0 -
Purkinje Cell Hamartoma (Histiocytoid Cardiomyopathy) 0 -
Pyle's Disease (Metaphyseal Dysplasia) 0 -
Pyloric Stenosis 1 -
Pyoderma Gangrenosum 0 -
Pyridoxine Dependent Epilepsy 6 -
Pyridoxine Dependent Vitamin B Deficiency 1 -
Pyrine Autism 5 -
Pyruvate Dehydrogenase Complex 3 -
Pyruvate Dehydrogenase Deficiency 1 -
Pyruvate Kinase Deficiency 0 -
Pyruvate Kinase Deficiency Hemolytic Anemia 0 -
Radial Aplasia 0 -
Raine Syndrome 0 -
Ramsay Hunt Syndrome (Baltic Myoclonus, Unverricht-Lundborg Syndrome, Unverricht-Lundborg Disease,Unverricht Lundborg) 0 -
Rapid-onset Obesity with Hypothalamic Dysfunction, Hypoventilation and Autonomic Dysregulation (ROHHAD) 0 -
Rapp Hodgkins 0 -
Rasmussens Encephalitis 13 G
Raynaud's Phenomenon (Erythromelalgia,Erythermalgia) 4 G
Reactive Attachment Disorder (Attachment Disorder) 9 -
Recessive Spinocerebellar Degeneration 0 -
Rectal Prolapse 0 -
Reese-Ellsworth Syndrome (Anterior Chamber Cleavage) 0 -
Reflex Anoxic Seizures (Pallid Infantile Syncope,Vasovagal Syncope) 20 G
Reflex Sympathetic Dystrophy 5 G
Reflux Oesophagitis (Barrett's Oesophagus) 1 -
Refsum Syndrome (Infantile Refsum Syndrome; Refsum Disease) 1 -
Reis-Büclers (Reis-Bncklers) 0 -
Reiter's Syndrome 0 -
Relapsing Polychondritis 0 G
Renal Dysplasia 3 -
Renal Dystrophy 0 -
Renal Rickets 0 -
Renpenning Syndrome 0 -
Repetitive Strain Injury 0 -
Reproductive System Anomalies (Genital Abnormalities,Indeterminate Gender,Indescended Testes) 0 -
Respiratory Distress Syndrome (Hyaline Membrane Disease) 1 -
Respiratory Synctial Virus (RS-Virus) 0 -
Respiratory Synkinesis (Breathing Hands Sydnrome) 1 -
Restless Legs Syndrome (Wittmaak-Ekbom Syndrome,Ekbom Syndrome) 0 -
Restricted Growth (Intrauterine Growth Retardation,Pseudoachondroplasia) 0 G
Reticular Dysgenesis 0 -
Retinitis Pigmentosa (Bulls Eye Dystrophy; Central Areola Choroidal Dystrophy; Retinal Dystrophy, Tapeto Retinal Degenaration) 2 G
Retinoblastoma (Cancer of the Eye) 0 G
Retinodysphasia 0 -
Retinopathy of Prematurity 1 -
Retroperitoneal Fibrosis 0 -
Rett Syndrome 13 G
Reye Syndrome 0 G
Rh Incompatibility 0 -
Rhabdoid Tumour 0 -
Rhabdomylosis 0 -
Rhabdomyoma 0 -
Rhabdosarcoma 0 -
Rhesus Incompatibility (Haemolytic Disease of the Newborn) 0 -
Rheumatic Fever (Acute Rheumatic Fever) 0 -
Rheumatoid Arthritis 1 -
Rhinencephaly 0 -
Richner-Hanhart syndrome (Richner syndrome) 0 G
Rieger's Anomaly 1 -
Riley-day syndrome (Riley day) 0 -
Ring Chromosome 18 0 -
Ring G Monosomy 1 -
Ring X 0 -
Ritscher-Schinzel Syndrome 6 -
Ritters Syndrome 0 -
Roberts Syndrome 7 -
Robinow Syndrome (Robinow Silverman Smith Syndrome) 0 -
Robinson Syndrome 0 -
Rod Monochromatisim 0 -
Rokitansky Syndrome 17 -
Rolandic Epilepsy 0 -
Rosai-Dorfman Disease 0 -
Rosenberg-Chutorian Syndrome 0 -
Rothmund-Thomson Syndrome 2 -
Roussy-Levy Syndrome 1 -
Rubinstein-Taybi Syndrome (Broad Thumb-Great Toe Syndrome) 11 -
Rud Syndrome 0 -
Ruvalcaba Syndrome 0 -
Sacral Agenesis 36 G
Sacrococcygeal Teratoma 1 -
Sacrocyccygeal Tumour 0 -
Sacroilliac facit joint syndrome 0 -
Saethre-Chotzen Syndrome 6 -
Salla Disease 0 -
Sandhoff Disease 0 -
Sandifer Syndrome 2 -
Santavuori Disease 0 -
Santavuori-Haltia Disease (Infantile) 0 -
Sarcoidosis 0 G
Scaphocephaly 4 -
Scheie Disease 0 -
Scheuermann's disease (Spinal Osteochondrosis) 3 -
Schimke Immunoosseous Dysplasia 2 -
Schinzel-Giedion Syndrome 2 -
Schizencephaly 11 -
Schizophrenia (Schizotypal Disorder) 2 G
Schmid Type Metaphyseal Chondrodysplasia (Metaphyseal Dysostosis Type BI) 2 -
Schmidt Syndrome 0 -
Schwartz-Jampel-Aberfeld Syndrome 3 -
Scimitar Syndrome (Hypogenetic Lung) 4 -
Sclerocornea 3 -
Scleroderma (Morphoea) 1 G
Scleromyxedema 0 -
Scoliosis (Spondylosis,Kyphoscoliosis) 43 G
Scotopic Sensitivity Syndrome (Meares-Irlen Syndrome,Irlen Syndrome) 1 -
Scott's Syndrome 3 -
Seasonal Affective Disorder 0 -
Seckel Syndrome 0 -
Secondary Arthritis 0 -
Secretin Adrenal Carcinoma 0 -
Secreting Adrenal Carcinoma 0 -
Segawa Syndrome 1 -
Segmental Myoclonus 0 -
Selective IgA Deficiency 0 -
Selective Mutism (Elective Mutism) 46 G
Semantic Pragmatic Disorder (Pragmatic Disorder) 10 -
Sensitive Hearing 1 -
Sensory Integration Dysfunction (Tactile Defensiveness,Olfactory Defensiveness,Sensory Defensiveness) 16 -
Sensory Neuropathy (Insensitivity to Pain,Multisensory Neuropathy) 0 -
Septic Phlebitis (Lemierre Syndrome) 0 -
Septicaemia 0 -
Septo Optic Dysplasia (De Morsiers) 37 -
Serine Deficiency 0 -
Serum Cholinesterase Deficiency 3 -
Severe Acute Respiratory Syndrome (SARS) 0 -
Severe Combined Immunodeficiency (SCID) 6 -
Severe Infantile Myoclonic Epilepsy 13 -
Severe SMA 0 -
Severs Disease 2 -
Shaken Baby Syndrome 0 -
Shone Syndrome 0 -
Short Bowel Syndrome 5 -
Short Rib Polydactyly Syndrome 0 -
Short Syndrome 0 -
Shprintzen Goldberg (Craniofacial) Syndrome 3 -
Shwachman Syndrome D 2 -
Shy Drager Syndrome 0 -
Sialic Acid Storage Disease 0 -
Sialidosis 0 -
Sick sinus syndrome (Bradycardia tachycardia syndrome) 0 -
Sickle Cell Disorders (Sickle Cell Anaemia) 3 -
Sideroblastic Anaemia 0 -
Silicosis 2 -
Silver-Russell Syndrome (Asymmetry Dwarfism,Russell-Silver Syndrome,Silver's,Russell,Silver) 21 G
Simpson-Golabi-Behmel Syndrome (Golabi-Rosen Syndrome) 13 -
Single Ventricle Cardiac Disorders 0 -
Sinus bradycardia 0 -
Sinus tachycardia 1 -
Sinus-Histiocytosis with Massive Lymphadenopathy 0 -
Sinusitis (Concha Bullosa) 2 -
Situs Inversus 1 -
Sjögren Larsson Syndrome (Sjogren Larsson Syndrome) 2 -
Sjögren Syndrome (Sjogren Syndrome) 1 G
Skeletal Dysplasias 4 -
Skeletal Problems 1 -
Skin Disorders 0 -
Sleep Apnoea 5 -
Sleep Disorders (Rythmic Movement Disorder) 1 -
Slipped Epyphysis 1 -
Sly Disease 0 -
Smith-Lemli-Opitz Syndrome (RSH Syndrome; SLOS) 13 -
Smith-Magenis Syndrome (Chromosome 17p) 35 G
Smith-Theiler-Schachenmann Syndrome (Rib Gap Syndrome) 0 -
Sneddon Wilkinson Disease 0 -
Soft Tissue Sarcoma 0 -
Solar Utricaria 0 -
Somatising 0 -
Sotos Syndrome (Cerebral Gigantism in Childhood) 33 -
Spasmodic Dysphonia 3 -
Spasmodic Torticollis 3 -
Spastic Quadriplegia 3 -
Speech and Language Impairment 50 G
Spherocytosis (Hereditary) 32 -
Spheromicrophakia 0 -
Spina Bifida (Occipital Encephalocele,Meningoencephaly) 55 G
Spinal Cerebral Ataxia 0 -
Spinal Cysts (Spinal Defrayism) 0 -
Spinal Injuries 5 G
Spinal Muscular Atrophy 1 G
Spinal Muscular Atrophy with Respiratory Distress (SMARD1) 2 -
Spinal Myoclonus 0 -
Spinocerebellar Ataxia 3 -
Splenectomy 0 -
Spondylo Epiphyseal Dysplasia (SED) 5 -
Spondylo Epiphyseal Dysplasia Tarda X-Linked 0 -
Spondylocostal Dysplasia 0 -
Spondylolisthesis 1 -
Sprengle's Deformity 1 -
Stammering 0 G
Staphylitis 0 -
Stargardt's Disease (Stargardt's Macular Dystropy; Stargadts disease) 12 G
Stein Leventhal Syndrome 0 -
Steroid (long term use) Induced Skin Disorder 0 -
Steroid Abuse 0 -
Steroid Induced Diabetes 0 -
Steroid Sulphatase Deficiency 0 -
Stevens-Johnson Syndrome (Erythema Multiforma) 2 -
Stickler Syndrome (Wagner Syndrome,Weissen-Bacher-Zweymuller Syndrome,Hereditary Progressive Arthro- opthalmopathy,Arthro-opthalmopathy) 7 G
Stiff Limb Syndrome 0 -
Stiff Man Syndrome 2 G
Stillbirths and Neonatal Deaths 2 G
Stomas 2 -
Storage Pool Platelet Disease 1 -
Stormorken syndrome 0 -
Stridor 5 -
Stroke (Spinal Stroke,Transient Ischaemic Attack) 4 G
Sturge-Weber Syndrome (Encephalofacial Angiomatosis,Sturge Webber Syndrome) 12 G
Sub Aortic Stenosis 2 -
Subacute Sclerosing Panencephalitis (SSPE) 1 G
Subcortical Dementia 0 -
Subcutaneous T-cell Lymphoma 0 -
Subglottic Stenosis 3 -
Succinic Semialdehyde Dehydrogonase Deficiency (SSADH) 0 -
Sucrose Intolerance 0 -
Sucrose Isomaltose Enzyme Deficiency 6 -
Sudden Adult Death Syndrome 0 -
Sudden Infant Death Syndrome (SIDS) 0 -
SUNA (Short lasting unilateral neuralgiform headache attacks with cranial autonomic symptoms) 0 -
Supraventricular Tachycardia (SVT) 0 -
Sweet Syndrome (Acute Febrile Neutrophilic Dermatosis; neutrophilic dermatitis) 0 -
Sydenham Chorea (Sydenham's Chorea) 7 -
Symbrachydactyly 11 -
Synaesthesia 0 -
Syndactyly (Webbed Fingers/Toes) 3 -
Synovitus 0 -
Syringobulbia 3 -
Syringoma 0 -
Syringomyelia 23 G
Systemic Mastocytosis (Diffuse Cutaneous Mastocytosis) 5 -
T-Cell receptor signalling defect 0 -
T3 Toxicosis 0 -
Takayasu Arteritis 0 -
Talipes 24 -
TAR Syndrome (Thrombocytopenia with Absent Radii) 10 G
Tardive Dyskinesia 0 -
Tarui disease 0 -
Taussig- Bing Syndrome 1 -
Tay Sachs Disease 7 -
Tay Syndrome (Trichothiodystrophy with Congenital Ichthyosis) 0 -
Technology Dependency 0 -
Tel Hashomer Camptodactyly 0 -
Temporal Arteritis 0 -
Temporal Lobe Epilepsy 14 -
Temporomandibular Joint Syndrome (TMJ; Temporomandibular Joint Pain Dysfunction Syndrome; Costen Syndrome) 3 -
Testicular Cancer 0 -
Testicular Infarction (bilateral testicular infarction) 0 -
Tethered Spinal Cord 5 -
Tetrasomy X (48XXXX,XXXX) 2 -
Thalassaemia Major (Beta thalassaemia) (Haemoglobin H Disease; Homozygous Beta Thalassaemia; Haemoglobinopathy Hb British Columbia (A); Mediteranean Anaemia) 0 G
Thalidomide 0 -
Thanatophoric Dysplasia/Dwarfism 0 -
Thomsen Disease 1 -
Thoracic Outlet Syndrome 0 -
Three M Syndrome 0 -
Thrombocythemia 0 -
Thrombocytopenia 2 -
Thrombocytosis 0 -
Thrombophilia 1 -
Thrombotic Thrombocytopenic Purpura (TTP,Moschcowicz Syndrome) 2 -
Thyroglossal Cyst 0 -
Thyroid Aplasia 0 -
Thyroid Disorders 6 G
Thyroid Eye Disease (Thyroid Ophthalmopathy; Thyroid Associated Ophthalmopathy; Graves' Eye Disease; Graves' Ophthalmopathy ) 1 G
Tic Disorders 1 -
Tick Borne Encephalitis 0 -
Timothy Syndrome (Long QT with Syndactyly) 2 -
Tinnitus (Post-natal Tinnitus) 0 G
Tnf Receptor Associated Periodic Syndrome (TRAPS) 0 -
Todd's Paralysis 1 -
Toddler Diarrhoea 0 -
Toe walking 0 -
Tolosa Hunt Syndrome 0 -
Tongue Tie (Ankyloglossia) 1 -
Tooth and Nail Syndrome 0 -
TORCH Syndrome (Toxoplasmosis, Rubella, Cytomegalovirus, Herpes Syndrome) 0 -
Toriello-Carey Syndrome 4 -
Torre Muir Syndrome (Cutaneous Sebaceous Neoplasms and Keratoacanthomas, Multiple with Gastrointestinal and other Carcinomas) 2 -
Torsion Dystonia 0 -
Torsion of the Testicle 0 -
Torticollis 0 -
Tourette Syndrome (Guinon's Myospasia Impulsiva,Coprolalia Generalised Tic,Brissaud's II,Gilles de la Tourette) 29 G
Townes-Brocks Syndrome (Townes Syndrome) 2 -
Toxic Epidermal Necrolysis (Scalded Skin Syndrome) 0 -
Toxic Shock Syndrome 0 -
Toxocariasis 0 G
Toxoplasmosis 2 G
Trachea-Oesophageal Fistula and/or Oesophageal Atr (Oesphageal Atresia,Adynamic Oesophagus,Duodenal Atresia) 11 -
Tracheal Stenosis 5 -
Tracheobronchopathia Osteochondroplastica 0 -
Tracheomalacia 5 -
Tracheostomy 28 G
Transcobalamin Type II Deficiency 0 -
Transient Neo-Natal Hyperammonaemia 0 -
Transient Tic Disoder 0 -
Translocations 5 -
Transplants (Post-transplant Lymphoproliferative Disorder) 1 -
Transverse Myelitis 0 -
Traumatic Birth 0 -
Treacher-Collins Syndrome (Franceshetti-Klein,First Arch Syndrome,Mandibulo Dysostosis) 1 -
Trichoepithelial Tumour 0 -
Trichorhinophalangeal Syndrome Type 1 2 -
Trichotillomania 1 -
Tricuspid Atresia 4 -
Trigeminal Neuralgia (Tic Douloureux) 0 G
Trigonitis 0 -
Trigonitis Pseudomembranous Idiopathic 0 -
Trigonocephaly 6 -
Trihydoxi Acyl CoA Dehydrogenase Deficiency 0 -
Trimethylamineuria 2 -
Triose Phosphate Isomerase Deficiency 0 -
Triosephosphate Isomerase Deficiency 0 -
Triploidy 2 -
Trisomy 10 1 -
Trisomy 14 Mosaic (Trisomy 14,Mosaic Trisomy 14,Trisomy 14 Mosaicism Syndrome) 0 -
Trisomy 17 0 -
Trisomy 6q ( Trisomy 6q Syndrome; Partial, 6q+ Syndrome; Partial, Trisomy 6q; Partial, Distal Trisomy 6q, Duplication 6q; Partial, Distal Duplication 6q) 1 -
Trisomy 7 0 -
Truncus Arteriosus 3 -
Ttracheomalacia 0 -
Tube Feeding (Gastrostomy) 29 -
Tuberculosis 0 -
Tuberous Sclerosis (Epiloia,Bourneville Syndrome) 16 G
Tumoral Calcinosis 0 -
Tumours 1 -
Turcot syndrome 0 -
Turner Syndrome (XO Syndrome,Bonnevie-Ullrich Syndrome,Gonadal Dysgenesis (XO),Monosomy X) 28 G
Tyrosinaemia Type 1 1 -
Tyrosine Hydroxylase Deficiency 0 -
Ulcerative Colitis (Pioderma Gangrenosum) 2 -
Ulerythema Ophyogenes 2 -
Ullrich Muscular Dystrophy (Ullrich Disease; Ullrich Scleroatonic Muscular Dystrophy, Ullrich Congenital Muscular Dystrophy, UCMD) 8 -
Undiagnosed Bone Disorders 0 -
Undiagnosed Endocrine Disorders 1 -
Undiagnosed Learning Disability 15 -
Undiagnosed Metabolic Disorders 1 -
Undifferentiated Connective Tissue Disease 0 -
Uniparental Disomy 0 -
Univentricular Atrioventricular Connection 0 -
Upper Limb Abnormalities 6 G
Urea Cycle Disorder 3 -
Ureter Defects 0 -
Urethrocele 0 -
Urofacial Syndrome (Ochoa Syndrome) 0 -
Urological Conditions 0 -
Urological Conditions Neurogenic Bladder 2 -
Urostomy 0 -
Urticaria (Urticaral Vasculitis,Cold Urticaria,Aquagenic Urticaria) 0 -
Urticaria Pigmentosa (Cutaneous Mastocytosis,Mastocytosis) 12 -
Usher Syndrome 1 G
Uterus Didelphys 4 -
Uticaria (Angioedema) 0 -
Uveitis 1 G
Van Bogaert's Syndrome 0 -
Van Buchem Syndrome (Endosteal Hyperostosis) 0 -
Van der Knaap Syndrome (Van der Knaap Leukodystrophy) 0 -
Van der Woude Syndrome (Demarquay Syndrome) 1 -
Varicella (Chicken Pox) 0 -
Variegate Porphyria 0 -
Vascular Birthmarks 1 G
Vascular Disorders 1 -
Vasculitis 1 -
VATER Association D (VATERL Association) 3 -
Vein of Galen Malformation 1 G
Velo-Cardio-Facial Syndrome (VCFS; Sprintzen Syndrome; Catch 22) 4 G
Veno-occlusive Disease 0 -
Ventricular fibrillation 0 -
Ventricular tachycardia (Wide-complex tachycardia; V tach; Tachycardia - ventricular) 0 -
Ventriculomegaly 9 -
Verbal Dyspraxia 41 -
Vernal Conjunctivitis 0 -
Vertebrobasilar Stroke 0 -
Vertigo 0 -
Very Long Chain Acyl CoA Dehydrogenase Deficiency (VLCAD, VLCADD) 0 -
Vesico Intestinal Fissure 0 -
Vesico-ureteral Reflux 4 -
Vestibular disorders (Balance disorders) 1 -
Viral Infection (Herpes Virus) 0 -
Visceral Myopathy 1 -
Visual Impairment/Disorders 40 G
Visual Spatial Disorder 0 -
Vitamin B12 Uptake Deficiency 1 -
Vitamin B12 Uptake Deficiency M 0 -
Vitamin D Dependent Rickets Type I 0 -
Vitamin K Deficiency (Hypoprothrombenaemia) 0 -
Vitiligo (Leukoderma) 0 G
Vocal Cord paralysis 0 -
Vogt-Koyanagi-Harada Syndrome 0 -
Vogt-Spielmeyer Disease 0 -
Von Gierke disease 0 -
Von Hippel-Lindau Syndrome 2 G
Von Willebrand Disease 1 -
Vulvodynia (Vulvar Dysesthesia) 1 -
Waardenburg's Syndrome 7 -
WAGR Syndrome 6 -
Waldenstrom's Macroglobulinaemia 0 -
Walker-Warburg Syndrome 0 -
Warburg Micro Syndrome (Micro Syndrome) 5 -
Watson Syndrome 0 -
Weaver Syndrome 2 -
Weber-Christian Disease (Weber Christian Panniculitis) 0 -
Wegener Granulomatosis 0 -
Weidemann Rautenstrauch Syndrome 0 -
Weidemann Rautenstrauch Syndrome M 0 -
Weidemann Syndrome 0 -
Weismann-Netter Stuhh 0 -
Wells Syndrome 0 -
Werdnig-Hoffmann Disease 0 -
Werner Syndrome (Progeria of Adulthood) 0 -
Wernicke Korsakoff Syndrome (Wernicke Encephalopathy) 1 -
West Nile Encephalitis 0 -
West Syndrome (Salaam Attacks,Jackknife Convulsion,Infantile Spasms) 65 G
Whipples Disease 0 -
Wildervanck Syndrome (Cervico oculo acoustic Syndrome) 2 -
William's Syndrome (Hypercalcaemia, Infantile Hypercalcaemia) 30 G
Wilms Tumour (Nephroblastoma) 2 -
Wilson Disease (Hepatolenticular Degeneration) 0 -
Wilson-Mikity Syndrome (Cystic Pulmonary Emphysema,Interstitial Prematurity Fibosis,Neonatal Cystic Pulmonary Emphysema) 0 -
Winchester Syndrome 0 -
Winter-Tsukahara Syndrome 0 -
Wiskott-Aldrich Syndrome 0 -
Wolcott-Rallison syndrome (early-onset diabetes mellitus-epiphyseal dysplasia,infancy-onset diabetes mellitus-multiple epiphyseal dysplasia,multiple epiphyseal dysplasia-early onset diabetes mellitus,MED-IDDM,spondylo-epiphyseal dysplasia-diabetes mellitus,IDDM-MED) 2 -
Wolf-Hirschhorn Syndrome (Chromosome 4p) 13 G
Wolf-Parkinson-White Syndrome 6 -
Wolfram Syndrome (DIDMOAD) 4 -
Wooly-hair syndrome (Wooly hair syndrome,whs) 0 -
Worster-Drought Syndrome (Congenital Suprabulbar Paresis; Supra Bulbar Paresis; Suprabulbar Palsy) 19 G
Worth Disease (Hyperostosis Corticalis Generalisata; Benign form of Worth with Torus Palatinus; Autosomal Dominant Osteosclerosis; Autosomal Dominant Endosteal Hyperostosis) 0 -
X-linked Hypohidrotic Ectodermal Dysplasia 0 -
X-linked Hypophosphatemic Rickets (Hypophosphatemic Rickets) 0 -
X-linked Ichthyosis 0 -
X-linked Juvenile Retinoschisis (Hereditary Retinoschisis) 9 -
X-Linked Nephrolithiasis 0 -
X-Linked Proliferative Disease 0 -
X-linked severe combined immunodefiency (Interleukin 2 Receptor Gamma chain Deficiency) 0 -
Xeroderma Pigmentosum (Kaposi's Syndrome II,De Santis-Cacchione Syndrome) 0 G
XXX Syndrome (Triple X) 3 -
XXYY Syndrome 0 -
XYY Syndrome (Jacob's Syndrome) 13 G
Young Syndrome (Barry-Perkins-Young) 0 -
Young-Simpson Syndrome 0 -
Yunis Varon Syndrome 0 -
Zappert's Syndrome 0 -
Zellweger Syndrome 3 -
Zollinger Ellison Syndrome 0 -