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Listing all conditions - hierarchically

Below is a hierarchical 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 thus ?. Click on this icon to view a list of the available support groups.

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

Condition (aliases) No. of members Support Group
0 -
22q11 Deletion Syndromes 24 G
DiGeorge Syndrome 27 -
Velo-Cardio-Facial Syndrome (VCFS; Sprintzen Syndrome; Catch 22) 4 G
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
Exomphalos (Omphalocele) 2 -
Gastroschisis 6 -
Abdominal Migraine 18 -
Absence of the Septum Pellucidum 2 -
Acanthosis Nigricans 0 -
Achalasia 3 -
Achalasia-Addisonianism-Alacrimia Syndrome (AAA; Allgrove Syndrome; Triple A) 3 -
Achenbach Syndrome 0 -
Acne (Acne Vulgaris) 1 G
Acne Vulgaris 0 -
Acoustic Neuroma (Vestibular Schwannoma) 1 G
Acrocallosal Syndrome (Schinzel Acrocallosal Syndrome; Hallux Duplication; postaxial polydactyly; and absence of corpus callosum) 0 -
Acrodysostosis 0 -
Acromegaloid Facial Appearance Syndrome (AFA Syndrome; Thick Lips and Oral Mucosa) 0 -
Acropectorovertebral Dysplasia (F Syndrome) 0 -
Actinomycosis 0 -
Acute Infective Demyelisation 0 -
Adams-Oliver Syndrome (Limbs/Scalp Defects; Adams-Olver Type) 17 G
Addison Disease (Adrenal Hypoplasia) 9 G
Adrenoleukodystrophy (Adrenomyeloneuropathy,Schilder's Disease,Sudanophilic leukodystrophy, ALD) 3 G
Adrenomyelopathy 0 -
Adynamic Oesphagus 0 -
Agenesis of the Corpus Callosum (Dysgenesis of the Corpus Callosum,Agenesis of the Corpus Callosum + Choroid Plexus Lipoma) 68 G
Aicardi Syndrome 6 -
Albinism (Piebaldism,Oculocerebral Syndrome with Hypopigmentation) 4 G
Albright Hereditary Osteodystrophy (AHO; Albright's Hereditary Osteodystrophy) 31 G
Alkaptonuria 1 G
Allan Hurndon Dudley syndrome (Allen Hurndon syndrome) 5 -
Allergies (Milk Intolerance) 19 G
Allergic Colitis 4 -
Allergic Enteropathy 3 -
Lactose Intolerance (Hypolactasia) 3 -
Latex Allergy 1 -
Multiple Chemical Sensitivity 0 -
Piriton Allergy 0 -
Uticaria (Angioedema) 0 -
Alopecia (Congenital Hypotrichosis; ) 0 G
Alopecia Areata 0 -
Female pattern Hair Loss (Female Androgenetic Alopecia; female hairloss) 0 -
Male Balding (Male Pattern Hair Loss; Androgenetic Alopecia; male hairloss) 0 -
Monilethrix Syndrome 0 -
Alopecia-Mental Retardation Syndrome 0 -
Alpha Thalassaemia (ATR-16,ATR-X,Mental Retardation on the X Chromosome) 4 G
Alpha-feto protein deficiency 1 -
Alström Syndrome (Alstrom Syndrome) 0 G
Alternating Hemiplegia (Alternating Hemiplegic Migraine) 2 G
Ambidexterous 0 -
Amelogenesis Imperfecta (Trichodento-Osseous) 2 -
Amnesia 0 -
Amnesic Syndrome 0 -
Amniotic Band Syndrome 4 -
Anaemias 0 -
Acquired Aplastic Anaemia 0 G
Aplastic Anemia (Hyoplastic Anaemia) 0 -
Autoimmune Haemolytic Anaemia 0 -
Congenital Dyserythropiectic Anaemia (Dyserythropoiectic Anaemia) 4 -
Congenital Dyserythropoietic Anemia Type II 0 -
Folate Deficiency Anaemia 0 -
Haemoglobinaemia 0 -
Haemolytic Anaemia 0 -
Haemophagocytic Anaemia (Virus Associated) 0 -
Hereditary Haemolytic Anaemia 1 -
Megaloblastic Aaemia 0 -
Paroxysmal Cold Hemoglobulinuria 0 -
Pernicious Anaemia 1 -
Sideroblastic Anaemia 0 -
Anaphylaxis (Angioneurotic Oedema) 3 G
Andermann Syndrome (Charlevoix Disease) 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) 4 G
Anencephaly 8 -
Angelman Syndrome 49 G
Angina Bullosa Haemorrhagica (oral blisters; oral blood blisters) 7 -
Ankylosing Spondylitis 2 G
Anonychia-Onychodystrophy with Hypoplasia or Absence/Distal Phal 0 -
Anosmia (Congenital Anosmia) 0 -
Anoxia 0 -
Anterior Horn Cell Hypoplasia 0 -
Anti-Jo-1 Syndrome 0 -
Antiphospholipid Syndrome (Hughes Syndrome) 10 G
Antithrombin Deficiency (Antithrombin III Deficiency) 0 -
Anxiety Disorders (School Phobia) 15 G
Agoraphobia 4 -
Body Dysmorphic Disorder 0 -
Phobias 1 -
Apnoea 4 -
Arboviral Encepalites 0 G
Japanese Encephalitis 0 -
Louping Ill Virus 0 G
Powassan Virus 0 G
Tick Borne Encephalitis 0 -
West Nile Encephalitis 0 -
Arnold Chiari Malformation (Chiari Malformation) 37 -
Arterial Calcification of Infancy (Occlusive Infantile Arteriopathy,Arteriopathy - Occlusive Infantile) 17 -
Arthritis (Enteropathic Arthritis,Lumbar Spondylosis) 6 G
Cervical Spondylosis 3 -
Gout 0 -
Pauci-articular Arthritis 0 -
Polumyalgica Rheumatica 0 -
Rheumatoid Arthritis 1 -
Secondary Arthritis 0 -
Arthritis (Juvenile Idiopathic) (Stills Disease) 40 G
Enthestitis Related Arthritis 2 -
Juvenile Spondylitis 1 -
Monarticular Arthritis 0 -
Osteoarthritis 11 -
Polyarthritis 1 -
Polyarticular Arthritis 6 -
Arthrogryposis (Amyoplasia Congenita,Arthrogryposis Multiplex Congenita) 15 G
Arthrogryposis Renal Dysfunction and Cholestasis 0 -
Gordon Syndrome 0 -
Asthma 39 G
Brittle Asthma 2 -
Ataxia (undefined) 7 -
Acute Cerebellar Ataxia (Zappert's Syndrome) 2 -
Cerebellar Ataxia 10 -
Cerebral Ataxia (Idiopathic Cerebellar Ataxia) 3 -
Episodic Ataxia 0 -
Friedreich's Ataxia (Spinocerebellar Degeneration,Recessive spinocerebellar degeneration) 7 G
Recessive Spinocerebellar Degeneration 0 -
Spinal Cerebral Ataxia 0 -
Spinocerebellar Ataxia 3 -
Zappert's Syndrome 0 -
Ataxia with Oculomotor Apraxia 3 -
Ataxia-Telangiectasia (Louis Bar Syndrome) 1 G
Attention Deficit Hyperactivity Disorder (AD(H)D,ADD,Attention Deficit Disorder,ADHD,Hyperkinetic Disorder) 226 G
Chatterbox Syndrome 1 -
Minimal Brain Dysfunction 1 -
Auditory Memory Loss 0 -
Autistic Spectrum Disorders including Aspergers Syndrome (autism,aspergers syndrome,asperger,asd) 501 G
Autoimmune Disorders 0 -
Autoimmine Neutropenia 1 -
Autoimmune Enteropathy 0 -
Autonomic Neuropathy 0 -
Acute Cholinergic Dysautonomia 1 -
Riley-day syndrome (Riley day) 0 -
Avascular Necrosis (Osteonecrosis) 4 -
Back Pain 3 -
Baller-Gerold Syndrome (craniosynostosis-radial aplasia syndrome) 1 -
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
Barre-Lieou Syndrome 0 -
Bartsocas-papas syndrome (Popliteal Pterygium syndrome- Lethal Type) 0 -
Batten Disease 1 G
Jansky-Bielschowsky Disease (Late Infantile Type) 0 -
Kufs Disease (Adult type) 0 -
NCL 0 -
Neuronal Ceroid Lipofuscinosis Type 1 (Infantile) 1 -
Neuronal Ceroid Lipofuscinosis Type 2 (late infant 0 -
Neuronal Ceroid Lipofuscinosis Type 3 (Juvenile) 0 -
Santavuori Disease 0 -
Santavuori-Haltia Disease (Infantile) 0 -
Vogt-Spielmeyer Disease 0 -
Beals I Syndrome (Auriculoosteodysplasia; Beals syndrome) 0 -
Beals II Syndrome (Congenital Contractural Arachnodactyly; Beals Hecht Syndrome) 3 -
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 -
Benign Essential Tremor (Essential Tremor) 0 -
Benign Hereditary Chorea (Benign Familial Chorea) 0 -
Benign Paroxysmal Positonal Vertigo 0 -
Benign Paroxysmal Torticollis in Infancy 15 -
Traumatic Birth 0 -
Bernard-Soulier Syndrome 0 -
Birthmarks/Naevus (Naevus; Fragmented Mole; Congenital Giant Naevus) 2 G
Congenital Melanocytic Naevi 1 G
Melanocytic Naevus 0 -
Vascular Birthmarks 1 G
Bladder Disease 0 -
Irritable Bladder (Urge Incontinence) 0 -
Vesico-ureteral Reflux 4 -
Bladder Exstrophy (exstrophy epispadias complex) 4 G
Cloacal Exstrophy 2 -
Ectopic Bladder 0 -
Ectopica Vesicae 0 -
Epispadias 1 -
Epispadias (Female) 0 -
Vesico Intestinal Fissure 0 -
Blood Disorders 3 -
Anti K Antibodies 0 -
Eosinophilia 0 -
Essential Thrombocythemia 0 -
Factor II Deficiency 0 -
Factor V Leiden 6 -
Factor XI Deficiency 0 -
Glanzmann's Thrombasthenia (Thrombasthenia) 0 G
Haemoglobin G Norfolk 0 -
Haemoglobin M 0 -
Hypereosinophilia Syndrome 2 -
Idiopathic Hypereosinophilia Syndrome 2 -
Infantile Pyknocytosis 0 -
Intrinsic Platelet Defect 0 -
Methaemogloulinaemia 0 -
Monoclonal Gammopathy 0 -
Monoclonal Globulinopathy of Unknown Significance 1 -
Owren Disease 0 -
Platelet Function Disorders 1 -
Polycythemia 0 -
Polycythemia Vera 1 -
Protein C Deficiency 0 -
Protein S Deficiency 2 -
Rhesus Incompatibility (Haemolytic Disease of the Newborn) 0 -
Thrombocythemia 0 -
Thrombocytopenia 2 -
Thrombocytosis 0 -
Thrombophilia 1 -
Bloom Syndrome (Bloom-Torre-Mackacek) 1 -
Blount Barber Syndrome (Blounts Disease; Tibia vara) 7 -
Bone Disorders 1 -
Fibrous Dysplasia 2 -
Osteofibrous Dysplasia 4 -
Osteopenia 0 -
Skeletal Dysplasias 4 -
Worth Disease (Hyperostosis Corticalis Generalisata; Benign form of Worth with Torus Palatinus; Autosomal Dominant Osteosclerosis; Autosomal Dominant Endosteal Hyperostosis) 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 -
Brain Disorders (inc Head Injury) 6 -
Benign Intracranial Hypertension (Pseudotumour Cerebri; Idiopathic Intracranial Hypertension) 17 -
Brain Aneurysm 2 -
Brain Cysts (Arachnoid Cysts; Periventricular Cysts) 2 -
Brain Damage/Injury (acquired and congenital) 33 -
Brain Stem Atrophy 0 -
Cavum Septum Pellucidum 0 -
Cerebellar Mutism 0 -
Cerebral Aneurysm 0 -
Cerebral Hernia 0 -
Cerebral Hypertension 0 -
Cerebral Hypotension 0 -
Cerebral Infarct 2 -
Cerebral Malacoplakia 0 -
Cleft Split of Cerebellum 0 -
Head Injuries 7 G
Hypopthalamic Dysfunction 1 -
Hypoxic Brain Damage 5 -
Organic Brain Dysfunction 1 -
Pallidol Degeneration 0 -
Vein of Galen Malformation 1 G
Ventriculomegaly 9 -
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 -
Brittle Bone Diseases (Osteogenesis Imperfecta) 13 G
Dentinogenesis Imperfecta 1 -
Osteogenesis Imperfecta 7 -
Sacrococcygeal Teratoma 1 -
Brody disease (Brody Myopathy) 0 -
Broncho Pulmonary Dysplasia (BPD) 3 G
Brown-Vialetto-Van-Laere Syndrome 1 -
Buerger Disease (Occlusive Peripheral Vascular Disease,Thromboangiitis Obliterans) 0 -
Bulbar Palsy 9 -
Bullous Pemphigoid 0 -
Burning Mouth Syndrome 0 -
Burns (Scalds) 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 -
Cancer 2 G
Asbestosis 0 -
Branchial Cleft Carcinoma 0 -
Cervical Cancer 0 -
Chromosome 14 Disorder 10 G
Cylindroma (Adenoid Cystic Carcinoma) 0 -
Ependymoma Tumour 0 -
Ewing's Sarcoma 0 -
Fibrosarcoma 0 -
Gastric Teratoma Tumour 0 -
Medulloepithelioma (Diktyoma) 0 -
Mycosis Fungoides 0 -
Paraganglioma 0 -
Paraneoplastic Syndrome 0 -
Pleuro-pulmonary blastoma 0 -
Rhabdosarcoma 0 -
Secretin Adrenal Carcinoma 0 -
Soft Tissue Sarcoma 0 -
Testicular Cancer 0 -
Turcot syndrome 0 -
Cantu Syndrome (Hypertrichotic Oseochondrodysplasia) 0 -
Cardiofaciocutaneous Syndrome (CFC Syndrome) 4 -
Cardiomyopathies (HCM,Dilated Cardiomyopathy,Hypertrophic Cardiomyopathy) 4 G
Carney Syndrome (Carney Triad; Carney Complex; Lamb Syndrome; Name Syndrome) 1 -
Carp Mouth Syndrome (Chromosome 18q) 0 -
Carpal Tarsal Osteolysis (Idiopathic Carpal Tarsal Osteolysis; multicentric osteolysis) 0 -
Carpal Tunnel Syndrome 0 -
Castleman Disease 0 -
Cat Eye Syndrome 1 -
Catel-Manzke Syndrome (Pierre Robin Syndrome with Hyperphalangy & Clinodactyly) 6 -
Caudal Regression Syndrome (Mermaid Syndrome; Caudal Dysplasia; Caudal Dysgenesis) 7 -
Cavernous Haemangioma (Cavernoma) 0 -
Cellulitis 0 -
Central Auditory Processing Disorder 2 -
Cephalic Disorders (Acephaly; Colpocephaly; Exencephaly; Micrencephaly; Octocephaly; Iniencephaly) 0 -
Megalencephaly (Macrencephaly) 0 -
Schizencephaly 11 -
Cerebral Atrophy 9 -
Cerebral Palsy 243 G
Cerebrocostomandibular Syndrome (Smith-Theiler-Schachenmann Syndrome; CCM Syndrome; CCMS; Rib Gap Defects with Micrognathia) 7 -
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
Dejerine Sottas Disease (Progressive Hypertropic Interstitial Polyneuropathy) 3 -
CHARGE Association ("Colomba; Heart Defect; Atresia Choanae; Restricted Growth and Development; Genital Hypoplasia; Ear Anomalies") 9 G
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 -
Chondromalacia Patellae 1 -
Chorioretinopathy and Pituitary Dysfunction (CPD Syndrome) 0 -
Choroid Plexus Cysts 1 -
Chromosome Disorders 20 G
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 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 Marker 0 -
Chromosome X Inversion syndrome 0 -
de Grouchy Syndrome I (18p- syndrome; 18p deletion syndrome; chromosome 18p monosomy; del(18p) syndrome; deletion 18p syndrome; monosomy 18p; partial monosomy 18p ) 4 -
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 -
isodicentric 15 (idic(15)) 10 -
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 -
Monosomy 1p36 deletion syndrome 28 -
Mosaic Variegated Aneuploidy 0 -
Penta X Syndrome (XXXXX Syndrome) 0 -
Ring Chromosome 18 0 -
Ring G Monosomy 1 -
Ring X 0 -
Translocations 5 -
Triploidy 2 -
Trisomy 14 Mosaic (Trisomy 14,Mosaic Trisomy 14,Trisomy 14 Mosaicism Syndrome) 0 -
Uniparental Disomy 0 -
XYY Syndrome (Jacob's Syndrome) 13 G
Chronic Advancing Peripheral Axonal Neuropathy 0 -
Chronic Bullous Disease of Childhood (Linear IgA Dermatosis; LAD; Chronic Bullous Dermatitis of Childhood) 4 -
Chronic Eustacian Tube Dysfunction 0 -
Chronic Functional Abdominal Pain 0 -
Chronic Infantile Neurological Cutaneous Articular (CINCA; Neonatal Multisystem Inflammatory disease; NOMID) 0 -
Chronic Pain Syndrome 9 -
Chronic Partial Denervation 0 -
Chronic Progressive External Ophthalmoplegia 0 -
Cleft Lip and/or Palate (Cleft Mandible) 21 G
Cleidocranial Dysplasia (Marie Sainton Syndrome; Cleidocranial Dysostosis) 23 -
Cochlear Implants 0 -
Cockayne Syndrome (Cockayne Neills Dwarfism) 3 -
Coeliac Disease (Sprue Syndrome; Gluten Enteropathy) 4 G
Dermatitis Herpetiformis 0 -
Coffin-Lowry Syndrome 0 -
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
Colitis (Lymphocytic Colitis) 3 -
Coma (Persistent Vegetative State) 0 -
Condylar Hyperplasia 0 -
Congenital Absence of the Testes (Anorchidism,Absence of Testes) 1 G
Anorchia (Acquired) 0 -
Anorchidism 1 -
Congenital Adrenal Hypoplasia 0 -
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 Dislocation of the Hip (CDH) 32 -
Congenital Insensitivity to Pain 18 -
Congenital Lymphoedema (Primary Lymphoedema) 0 -
Congenital Ocular Motor Apraxia (Oculomotor Apraxia; Saccade initiation; Cogan's apraxia ) 29 G
Conn Syndrome 0 -
Connective Tissue Disorders 1 -
Cutis Laxa (elastolysis) 2 -
Mixed Connective Tissue Disease 0 -
Undifferentiated Connective Tissue Disease 0 -
Conradi-Hunermann Syndrome (Chondrodysplasia Punctata (Rhizomelic Type),Rhizomelic Chondrodysplasia Punctata) 24 -
Conversion Disorder 0 -
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 -
Costello Syndrome 1 G
Costochondritis 1 -
Cot Death 2 G
Craniodiaphyseal Dysplasia 0 -
Craniofacial Conditions 10 G
Acrocephaloplysyndactyly 0 -
Acrocephalosyndactyly 0 -
Acrocephalosyndactyly II 0 -
Acrocephalosyndactyly III 0 -
Acrocephalosyndactyly VI 0 -
Antley Bixler Syndrome 0 -
Apert Syndrome 2 -
Bicoronal Synostosis 0 -
Brachycephaly (Bicoronal Synostosis) 0 -
C-Trigonocephaly (Opitz Trigonocephaly Syndrome; C Syndrome; Trigonocephaly Syndrome) 1 -
Carpenter Syndrome 5 -
Cloverleaf Syndrome (Kleeblattschsedel Syndrome; Cloverleaf skull) 0 -
Craniofacial Cleft (Tessier Scale) 2 -
Craniofrontonasal Dysplasia (Craniofrontal Dysostosis) 2 -
Craniostenosis 3 -
Craniosynostosis 38 -
Crouzon Syndrome 3 -
Frontal Bone Protrusion 1 -
Frontonasal Dysplasia (Median Cleft Face Syndrome; de Meyer Syndrome) 2 -
Oxycephaly (Turricephaly) 0 -
Pfeiffer Syndrome 5 -
Plagiocephaly 3 -
Proboscis Lateralis 0 -
Saethre-Chotzen Syndrome 6 -
Scaphocephaly 4 -
Trigonocephaly 6 -
Craniometaphyseal Dysplasia 0 -
Cri du Chat Syndrome (Chromosome 5p,Lejeune Syndrome) 17 G
Crohn's Disease (Colitis) 1 G
Cronkite-Canada Syndrome 0 -
Crosslaterality 0 -
Cryoglobulinaemia 0 -
Currarino Syndrome (Currarino Triad) 7 -
Curry-Jones Syndrome 0 -
Cutis Marmorata Telangiectatica Congenita (Macrocephaly, Cutis Marmorata Telangiectatica Congenita) 14 -
Cyclical Vomiting 8 G
Cystic Adenomatoid Malformation Type I (CAM I) 0 -
Cystic Angiomatosis 0 -
Cystic Fibrosis (Cystic Fibrosis) 13 G
Cystic Hygroma 28 G
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 -
De Barsy Syndrome 2 -
Deaf Blind/Rubella Damaged (Congenital Rubella Syndrome,Rubella) 3 G
Deafblindness 1 -
Deafness 27 G
Auditory Neuropathy 6 -
Enlarged Vestibular Aqueduct Syndrome 1 -
Glue Ear 0 -
Otosclerosis 0 -
Pendred Syndrome 6 -
Degos Disease (Kohlmeier-Degos Disease,Degos-Kohlmeier Disease,Malignant Atrophic Papulosis) 0 G
Dementias 0 -
Alzheimer's Disease 1 G
Binswanger Disease 0 -
Cerebral Autosomal Dominant Arteriopathy with Subc (CADASIL) 7 -
Corticobasal Degeneration 4 G
Dementia 0 -
Frontotemporal Dementia (Pick's Disease) 0 G
Lewy Body Disease 0 -
Multi-Infarct Dementia 0 -
Postgastrectomy Dumping Syndrome 0 -
Subcortical Dementia 0 -
Denny-Brown Syndrome (Hereditary Sensory Neuropathy Type I,HSN1) 0 -
Dentato-Olivary Dysplasia 1 -
Dentatorubral-pallidoluysian Atrophy (DRPLA) 0 -
Dercum Disease 3 -
Dermatomyositis and Polymyositis (Juvenile Dermatomyositis) 1 G
Desbuquois Syndrome (Desbuquois Dysplasia,Micromelic Dwarfism with Vertebral and Metaphyseal Abnormalities and Advanced Carpotarsal Ossification) 0 -
Desquamative Interstitial Pneumenitis (Interstitial Pneumonitis) 0 -
Developmental Motor Co-ordination Disorder 4 -
Devic Disease (Neuromyelitis Optica) 1 -
Diabetes Mellitus 19 G
Maturity Onset Diabetes of the Young 0 -
Steroid Induced Diabetes 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 -
Diencephalic Syndrome (Diencephalic Tumor of Infancy) 0 -
Digestive Disorders 0 -
Diogenes Syndrome 0 -
Discitis 0 -
Disintegrative Psychosis (Childhood Disintegrative Disorder,Heller Syndrome) 2 -
Diverticulitis 1 -
Divry-Van Bogaert Syndrome (Angiomatosis Diffuse Corticomeningeal,Bogaert- Divry Syndrome) 0 -
Donnai-Barrow Syndrome 4 -
Door Syndrome 0 -
Down's Syndrome (Trisomy 21,Chromosome 21 Trisomy, downs) 96 G
Mosaic Down's Syndrome 2 -
Down's Syndrome with Heart Defect (downs with heart defect) 22 G
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
Dyggve-Melchior-Clausen Syndrome 1 -
Dyke Davidoff-Masson Syndrome (Cerebral Hemiatrophy,DDM) 0 -
Dyscalculia 2 -
Dysequilibrium Syndrome (Cerebellar Disorder; Nonprogressive; with Mental Retardation) 1 -
Dysgraphia 0 -
Dyskeratosis Congenita 9 G
Dyslexia 25 G
Dysosteosclerosis 0 -
Dysphasia 0 -
Dysplasia Epiphysealis Hemimelica (Trevor Disease) 0 -
Dyspraxia (Motor Learning Difficulty,Clumsy Child Syndrome,Bilateral Integration) 120 G
Dystonia 14 G
Abdominal Wall Dystonia 0 -
Belly Dancer Diskinesia 0 -
Benign Paroxysmal Torticollis 12 -
Chorioathetosis (Paroxysmal Kinesigenic Choreoathetosis; Paroxysmal Kinesogenic Dyskinesia; Paroxysmal Dystonic Choreoathetosis) 2 -
Laryngeal Dystonia 0 -
Nervous Tic 0 -
Oromandibular Dystonia 0 -
Paroxysmal Torticollis 0 -
Segawa Syndrome 1 -
Spasmodic Dysphonia 3 -
Spasmodic Torticollis 3 -
Torsion Dystonia 0 -
Torticollis 0 -
Eagle Syndrome 0 -
Ear Nose and Throat Disorders 0 -
Choanal Atresia 3 -
Cholesteatoma 0 -
Labyrinthitis 0 -
Otitis Media 0 -
Pschogenic cough 0 -
Sinusitis (Concha Bullosa) 2 -
Eating Disorders 4 G
Anorexia Nervosa 2 -
Bulimia Nervosa 1 -
Ectodermal Dysplasia (Walker-Clodius Syndrome,EEC Syndrome) 6 G
Anhidrotic Ectodermal Dysplasia 0 -
Ectodermal Dysplasia Syndrome 0 -
Ectrodactyly; Ectodermal Dysplasia; Cleft Lip & Palate Syndrome 4 -
Hidrotic Ectodermal Dysplasia 0 -
Hydrohidrotic Ectodermal Dysplasia 2 -
Pachyonichia Congenita 0 -
Rapp Hodgkins 0 -
Tooth and Nail Syndrome 0 -
Trichorhinophalangeal Syndrome Type 1 2 -
X-linked Hypohidrotic Ectodermal Dysplasia 0 -
Eczema (Ectopic Eczema) 6 G
Atopic Eczema 3 -
Edward's Syndrome (Trisomy 18,Chromosome 18 Trisomy (18 + Syndrome)) 30 G
Ehlers-Danlos Syndrome (Cutis Hyperelastica,Arthrochalasis-Multiplex Congenita,EDS) 35 G
Elliptocytosis 0 -
Ellis-Van Crevald Syndrome (Chondroectodermal Dysplasia) 1 G
Encephalitis (Viral Encephalitis) 12 G
Acute Disseminated Encephalomyelitis (ADEM) 21 G
Hashimoto Encephalitis 2 -
Herpes Encephalitis 5 -
Meningoencephalomyelitis 0 -
Mycoplasm Encephalitis 1 -
Rasmussens Encephalitis 13 G
Encephalocraniocutaneous Lipomatosis 1 -
Endocardial Fibroelastosis 1 -
Endometriosis 1 -
Enterovirus (Non-polio Enterovirus) 0 -
Eosinophilic Colitis 16 -
Eosinophilic Gastroenteritis 3 -
Epidermal Naevus Syndrome (Epidermal Nevus syndrome; Linear Nevus Sebaceous syndrome; Linear Naevus Sebaceous syndrome) 2 -
Epidermolysis Bullosa (EB Simplex) 2 G
Dystrophic EB 1 -
Junctional Epidermolysis Bullosa (Junctional EB) 0 -
Epiglottitis (Supraglottisis) 0 -
Epilepsy (Spinal Myoclonus,Unverricht Lundborg) 139 G
Benign Myoclonic Epilepsy 0 -
Benign Neonatal Familial Convulsions 1 -
Benign Paroxysmal Tonic Upward Gaze 5 -
Dravet Syndrome 15 -
Electrical Status Epilepticus of Slow Wave Sleep (ESES) 3 -
Gelastic Epilepsy 0 -
Hypsarrhythmia 0 -
Jacksonian Seizures 0 -
Ketogenic Diet 0 -
Myoclonic Astatic Epilepsy (Doose Syndrome) 5 -
Myoclonic Epilepsy 20 -
Ohtahara Syndrome (Early Infantile Epileptic Encephalopathy,EIEE) 10 G
Panayiotopoulos syndrome (early-onset benign partial epilepsy with occipital paroxysms) 0 -
Ramsay Hunt Syndrome (Baltic Myoclonus, Unverricht-Lundborg Syndrome, Unverricht-Lundborg Disease,Unverricht Lundborg) 0 -
Rolandic Epilepsy 0 -
Severe Infantile Myoclonic Epilepsy 13 -
Temporal Lobe Epilepsy 14 -
Todd's Paralysis 1 -
Epstein Barr Virus 0 -
Erb's Palsy (Klumpke's Paralysis,Brachial Plexus paralysis) 6 G
Erythromelalgia 3 -
Evans Syndrome 1 -
Executive Function Disorder 0 -
Extrapyramidal Disorder 1 -
Facial Disfigurement (Facial Palsy) 4 G
Facioscapulohumeral Muscular Dystyrophy (Facioscapuloperoneal Muscular Dystrophy,Landouzy-Dejerine) 0 G
Fahr Disease 0 -
Failure to Thrive 19 -
Familial Dysautonomia 1 G
Familial Hyperlipidaemia (Familial Hypercholesterolaemia,Familial Hypertriglyceridaemia,FCH,Hyperlipidaemia,Familial Combined Hyperlipidaemia) 0 -
Familial Hyperlipidaemias (Hypercholesterolaemia) 0 G
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'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 -
Femur-Fibula-Ulna Syndrome 0 -
Fetal Abnormalities 0 G
Benzodiazepines in Pregnancy 0 -
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 -
Fibromatosis 0 -
Congenital Generalized Fibromatosis 0 -
Infantile Fibromatosis 0 -
Multifocal Infantile Myofibromatosis 0 -
Fibromyalgia 15 -
Fibrosing Alveolitis 0 -
Filipi Syndrome 0 -
Filippi Syndrome 0 -
Fine Lubinsky Syndrome 0 -
Finlay-Marks Syndrome 2 -
Floating-Harbor Syndrome 8 G
Forestier's Disease (Diffuse Ideopathic Skeletal Hyperostosis) 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
Frontometaphyseal Dysplasia 2 -
Fryns Syndrome 7 -
Gait Apraxia 0 -
Galactosaemia 2 G
Gall Bladder Problems (Cholecystectomy) 0 -
Galloway Syndrome 0 -
Gardner's Syndrome (Familial Adenomatous Polyposis,Polyposis coli) 1 -
Gastric Disorders 0 -
Gastroenteropathy 0 -
Reflux Oesophagitis (Barrett's Oesophagus) 1 -
Gastrostomy 23 -
Gaucher Disease (Familial splenic anaemia,Cerobroside Lipidosis) 1 G
Geleophysic Dysplasia 1 -
Gender Identity Problems 2 -
Geographic Tongue 1 -
Geroderma Osteodysplastica (Bamatter) 2 -
Gerstmann Syndrome 0 -
Gianotti-Crosti Syndrome 0 -
Gillespie Syndrome 7 -
Glycogen Storage Disease (Tarui Type VII Glycogenesis,Von Gierke) 0 G
Cori Type III Glycogenosis 0 -
McArdle disease 0 -
Pompe Disease 1 -
Tarui disease 0 -
Von Gierke disease 0 -
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 -
Gorham Syndrome 1 -
Gorlin Syndrome (Basal Cell Naevus Syndrome) 2 G
Greig Syndrome (Optic Hypertelorism) 0 -
Griscelli Syndrome 1 -
Group A Streptococcus 0 -
Group B Streptococcus 0 G
Growth Disorders 4 -
Gigantism 1 -
Premature Sexual Maturation (Precocious Puberty) 3 G
Silver-Russell Syndrome (Asymmetry Dwarfism,Russell-Silver Syndrome,Silver's,Russell,Silver) 21 G
Sotos Syndrome (Cerebral Gigantism in Childhood) 32 -
Growth Hormone Deficiency (Multipituitary Hormone Deficiency) 12 G
Guillain-Barré Syndrome (Chronic / Acute Inflammatory Polyneuropathy; Guillain Barre Syndrome) 0 G
Acute Inflammatory Polyneuropathy 0 -
Miller-Fisher Syndrome 0 -
Gulf War Syndrome 0 -
Gut Fermentation Syndrome 0 -
Gut Motility Disorders (Intractable Vomiting,Severe Constipation) 10 G
Chronic Intestinal Pseudo Obstruction 3 -
Gastro-oesophageal Reflux 47 -
Gastroparesis (Delayed gastric emptying) 0 -
Hirschsprung Disease 35 -
Hollow Visceral Myopathy 4 -
Hypogangliosis 0 -
Intestinal Pseudo Obstruction 1 -
Megacystis-microcolon-intestinal Hypoperistalis Sy 3 -
Microvillus Atrophy 0 -
Oesophagael dysmotility (Esophageal Motility disorders, esophageal dysmotility) 0 -
Oesophageal dysmotility (Esophageal Motility disorders; esophageal dysmotility) 0 -
Partial Villus Atrophy 0 -
Protein Losing Enteropathy 1 -
Rectal Prolapse 0 -
Gynecomastia 1 -
Haemangioma (Optic Nerve Haemangioma,Kasabach-Merrit Syndrome,Haemangio-endothelioma,Haemangio Lymphantioma,Cavernous Haemangioma) 1 -
Haemochromatosis 0 G
Haemolytic Uraemic Syndrome (E Coli Infection) 0 G
Atypical Haemolytic Uraemic Syndrome 0 -
Haemophilia (Platelet Function Defect,Von Willibrand Disease,Coagulation Defects) 1 G
Christmas Disease 1 -
Haemophilia A 2 -
Von Willebrand Disease 1 -
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 -
Heart and Heart/Lung Transplant 1 G
Heart Defects 34 G
Angina 0 -
Aortic-Left Ventricular Tunnel (Aorto Left Ventricular Tunnel; ALVT; aortico-left ventricular tunnel) 0 -
Arrhythmia 0 -
Arterial Tortuosity Syndrome 0 -
Atrial Septal Defect 4 -
Barlow Syndrome 0 -
Bicuspid Aortic Valve Disorder (BAVD) 0 -
Brugada Syndrome 1 -
Coarctation of the Aorta 4 -
Diverticulum of the Left Ventrical 0 -
Dressler Syndrome 0 -
Ebstein Anomaly 2 -
Eisenmenger Complex 0 -
Fallot's Tetralogy 16 -
LGL 0 -
Long QT Syndrome (Jervell-Lange-Nielsen Syndrome,Romano-Ward Syndrome) 2 G
Lown-Ganong-Levene Syndrome 0 -
Mitral Valve Prolapse Syndrome (Barlow Syndrome) 1 -
Mitral Valve Stenosis 0 -
Myocarditis 0 -
Pulmonary Stenosis 5 -
Pulmonary Vein Stenosis 0 -
Purkinje Cell Hamartoma (Histiocytoid Cardiomyopathy) 0 -
Shone Syndrome 0 -
Single Ventricle Cardiac Disorders 0 -
Sub Aortic Stenosis 2 -
Truncus Arteriosus 3 -
Hecht Syndrome 0 -
Hemihypertrophy 7 -
Hemimegalencephaly (Linear Nevus Sebaceous Syndrome,HME) 10 -
Hemiparesis 1 -
Hemiplegia 32 -
Hennekam Syndrome 1 -
Henoch Schonlein Purpura (HSP,Henoch-Schonlein Purpura) 44 G
Hereditary Haemorrhagic Telangiectasia (Telangiectasia,Haemorrhagic Telangectasia,HHT,Rendu-Osler-Weber Syndrome,Osler-Rendu-Weber Syndrome) 5 G
Hereditary Multiple Exostoses 4 -
Hermaphroditism 0 -
Hernias (Diaphragmatic Hernia + Blockage,Rectus Abdominus Hernia) 2 -
Herpes Simplex Virus 0 -
Genital Herpes Simplex 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 -
Histiocytosis (Hand-Schuller-Christian Disease,Familial Erythrophagocytic Lymphohistiocytosis) 1 G
Eosinophilic Granuloma 2 -
Haemophagocytic Lymphohistiocytosis 0 -
Langerhan's Cell Histiocytosis 4 -
Letterer-Siwe Disese 0 -
Malignant Histiocytosis 0 -
Rosai-Dorfman Disease 0 -
Sinus-Histiocytosis with Massive Lymphadenopathy 0 -
HIV Infection and AIDS (AIDS,HIV) 0 G
Hoffmann Syndrome (Hypothyroid Myopathy) 0 -
Holoprosencephaly (Semilobar Holoprosencephaly,Semilobar Holoprosencephaly) 24 -
Holt-Oram Syndrome (Atriodigital dysplasia) 17 -
Hopkins syndrome 1 -
Horner Syndrome 0 -
Hoyeraal-Hreidarsson Syndrome 2 -
HTLV-1 associated Myelopathy (Jamaican Myelopathy,HAN-TSP,Tropical Spastic Paraparesis) 0 -
Huntington's Disease (Huntington's Chorea) 2 G
Hydatidiform Mole 0 -
Hydranencephaly 1 G
Hydroa Vaccininforme 0 -
Hydrocephalus (Normal Pressure Hydrocephalus (adult onset)) 87 -
Hydromyelia 0 -
Hydronephrosis 5 -
Hyperactivity (Hyperkinetic Disorder,Hyperkinesis) 4 -
Hyperacusis 1 -
Hyperekplexia (Startle Disease/Syndrome,Stiff Baby Syndrome) 14 G
Hyperhidrosis 0 -
Hyperlipidaemia 0 -
Hypermobility Syndrome (Hyperlaxity Syndrome) 89 G
Hypertension 0 -
Hypoglycaemia (Non-diabetic) 1 -
Hypohydrosis 0 -
Hypomagnesemia 0 -
Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (Famililal Hypomagnesemia-Hypocalcemia; Famililal Hypomagnesemia-Calciuria; FHHNC; Manz syndrome) 0 -
Hypomelanosis of Ito (Incontinentia Pigmenti Achromans) 10 G
Hypospadias 8 G
Hyposperda 0 -
Hypotonia (Benign Congenital Hypotonia,Amyotonia Congenita) 82 G
Ichthyosis 5 G
Bullouos Ichthyosiform Erythroderma 2 -
Bullous Ichthyosis 0 -
Collodian Baby 0 -
Harlequin Ichthyosis 1 -
Ichthyosis Erythroderma 1 -
Ichthyosis Lamellar 1 -
Ichthyosis Vulgaris 1 -
Netherton Syndrome 8 -
Non- Bullouos Ichthyosiform Erythroderma 0 -
Non-Bullous Ichthyosiform Erythroderma 1 -
Sjögren Larsson Syndrome (Sjogren Larsson Syndrome) 2 -
X-linked Ichthyosis 0 -
Idiopathic Inflammatory Myopathies 0 -
Inclusion Body Myositis (inflammatory myopathy) 0 -
Idiopathic Nail Atrophy 0 -
Idiopathic Scrotal Oedema 0 -
Immune (Idiopathic) Thrombocytopenic Purpura D (Idiopathic Thrombocytopenia Purpura,ITP) 0 -
Immune Disorders 2 -
APECED Syndrome 5 -
Autoimmune Inflammatory Disease 0 -
Autoimmune Polyendocrinopathy-Candidiasis-Ectoderm 3 -
Autoimmune Proliferative Syndrome 0 -
AutoimmuneVasculitis with Cryoglobulinaemia 0 -
Incontinence (Urge Incontinence,Encopresis,Detrusor Instability,Enuresis) 4 -
Incontinentia Pigmenti (Block-Sulzberger Syndrome) 16 -
Infantile Systemic Hyalinosis 0 -
Intestinal Conditions (Protein leakage from Bowel,Neurogenic Bladder) 7 -
Anal Atresia 4 -
Anal Stenosis 4 -
Anterior Anus with Vestibular Fistula 4 -
Brown Bowel Syndrome 0 -
Chronic Gastritis 0 -
Colostomy 4 -
Fowler Syndrome (Idiopathic voiding dysfunction and retention) 0 -
Ileostomy 2 -
Imperforate Anus 46 -
Intestinal Atresia 0 -
Jejeunal Atresia 0 -
Lymphoid Nodular Hyperplasia 0 -
Neurointestinal Dysplasia 1 -
Neuronal Dysplasia 0 -
Non Functional Bowel 4 -
Organo-Axial Malrotation of the Stomach 1 -
Stomas 2 -
Intestinal Lymphangiectasia 9 -
Intra Cerebral Whipples Disease 0 -
Intussuception 0 -
Ion Channel Disorder (Calcium Ion Channel Disorder) 0 -
Irritable Bowel Syndrome 6 G
Isaac Syndrome (Neuromyotonia, Myokymia) 5 -
Ivemark Syndrome (Congenital Absence of Spleen,Right Atrial Isomersism) 1 G
Jacobs Syndrome (Arthropathy-Campodactyly Syndrome) 0 -
Jacobsen Syndrome (11q- syndrome ) 8 -
Jaffe-Lichtenstein-Sutro Syndrome (Pigmented Villonodular synovitis) 1 -
Jansen Syndrome 0 -
Jarcho-Levin Syndrome (Spondylo Thoracic Dysplasia) 8 -
Jessner's Lymphocytic infiltration of the skin 17 -
Jeune Syndrome (Asphyxiating Thoracic Dysplasia,Jeune Thoracic Dysplasia,Asphyxiating Thoracic Dystrophy,Jeune Thoracic Dystrophy) 0 -
Johanson-Blizzard Syndrome 8 -
Joubert Syndrome (Familial Cerebellar Vermis Agenesis) 19 -
Juvenile Hyaline Fibromatosis (Systemic Juvenile Hyalinosis) 2 -
Juvenile Osteoporosis (Osteoporosis) 3 G
Juvenile Respiratory / Laryngeal Papilomatosis (Papilloma) 2 -
Juvenile Retinoschisis 2 -
Kabuki Syndrome (Kabuki-Make Up Syndrome) 37 -
Kapur-Toriello Syndrome 0 -
Kaufman Oculocerebral Facial Syndrome (Kaufman Syndrome) 0 -
Kaufman-Mckusick Syndrome 0 -
Kawasaki Disease (Mucocutaneous Lymph Node Syndrome) 0 G
KBG Syndrome 2 -
Kernicterus (Bilirubin Encephalopathy) 2 -
KID Syndrome (Keratitis-Ichthyosis-Deafness) 0 -
Kidney Disease 7 G
Angiomyolipoma 0 -
Bright's Disease (Acute Glomerulonephritis) 1 -
Chloride Shunt Syndrome (Gordon Syndrome; Pseudohypoaldosteronism) 1 -
Chronic Glomerulonephritis 0 -
Congenital Horseshoe Kidney 1 -
Dent's Disease 0 -
Drash Syndrome (Denys-Drash Syndrome) 0 -
Focal segmental Glomerulosclerosis 5 -
Gitelman Syndrome 7 -
Goodpasture Syndrome (Ceelen-Cellerstedt Syndrome) 0 -
Haematuria 1 -
IgA Nephropathy (Berger Syndrome) 1 -
Juvenile Bnephronophthisis 0 -
Juvenile Nephronophthisis 2 -
Kidney Dysplasia 4 -
Liddle Syndrome 0 -
Medullary Sponge Kidney 0 -
Mesangiocapillary Glomerulonephritis 0 -
Multicystic Dysplastic Kidney 7 -
Nephrocalcinosis 0 -
Nephrotic Syndrome (Nephrosis) 26 G
Polycystic Kidney 0 G
Potter Syndrome (Oligohydramnios) 1 G
Renal Dysplasia 3 -
Renal Dystrophy 0 -
Renal Rickets 0 -
X-Linked Nephrolithiasis 0 -
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 -
Klinefelter Syndrome (XXXXY Syndrome,XXY Syndrome) 13 G
Klippel-Feil Syndrome (Congenital Osseous-torticollis,MURCS Associations,Brevicollis,Congenital Cervico-thoracic Vertebrae Synostosis) 36 -
Klippel-Trenaunay Syndrome (Parkes-Weber Syndrome,Angio Osteohypertrophy) 10 -
Kluver-Bucy syndrome 1 -
Knobloch Syndrome 0 -
Labial Fusion 0 -
Lacrimation Failure 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 -
Larsen Syndrome 12 -
Laryngeal Cleft (Laryngotracheoesophageal Cleft) 10 -
Laryngeal Web 2 -
Lazy Leucocyte Syndrome 0 -
Learning Disability 54 G
Developmental Delay 105 -
Global Developmental Delay 204 -
Mental Handicap 2 -
Leber's Congenital Amaurosis (Leber Amaurosis) 24 G
Leber's Optic Neuropathy (Leber's Optic Atrophy,Leber Hereditary Optic Atrophy,Leber Optic Atrophy) 2 -
Leiner Syndrome (Erythroderma Desquamatirum) 0 -
Lennox-Gastaut Syndrome 28 G
Leopard Syndrome (Multiple Lentignes Syndrome) 7 -
Leprechaunism 0 -
Leptin Deficiency 0 -
Leukaemia (Chronic Myelomonocytic Leukaemia,CMML) 2 -
Myelodysplastic Syndrome 1 -
Leukopaenia 0 -
Leydig Cell Aplasia 0 -
Li-Fraumeni Syndrome 5 -
Lichen Planus (Hallopeau's 1) 0 -
Lichen Sclerosus (Lichen Sclerosus et Atrophicus) 0 -
Limb Abnormalities 5 -
Amputation 1 -
Congenital Macrodactyly 30 -
Lower Limb Abnormalities (Hip Dysplasia,Multiple Epiphyseal,Dysplasia) 16 G
Upper Limb Abnormalities 6 G
Lissencephaly (ILS) 15 G
Agyria 0 -
Cerebro-Oculo-Muscular Dystrophy 0 -
Fukuyama Congenital Muscular Dystrophy 0 -
Heterotopia 2 -
Isolated Lissencephaly Sequence 1 -
Isotretinoin Embryopathy 0 -
Microgyria 0 -
Miller Dieker Syndrome 2 -
Muscle Eye Brain Disease (MEB, Santavuori's syndrome) 0 -
Norman Roberts Syndrome 3 -
Polymicrogyria 11 -
Walker-Warburg Syndrome 0 -
Listeriosis 0 -
Little Disease 0 -
Liver Disease (Obstetric Cholestasis,Hyperbilirubinaemia,Wilson Disease) 2 G
Alagille Syndrome (Alagille-Watson Syndrome,Arteriohepatic Dysplasia,Cardiovertebral Syndrome,Watson-Miller Syndrome) 1 -
Alpha 1 - Antitrypsin Deficiency (Paediatric) 1 -
Biliary Atresia 2 -
Biliary Hypoplasia 0 -
Budd-Chiari Syndrome 0 -
Caroli Disease 0 -
Cholangitis (Primary Sclerosing Cholangitis) 0 -
Cholestasis 0 -
Crigler-Najjar Syndrome (Congenital Familial Non-Haemolytic Jaundice) 0 -
Gilbert Syndrome 0 -
Hepatitis B 0 -
Hepatitis C (HVC; Non-A Non-B hepatitis; NANB) 0 -
Hyperbilirubinaemia 0 -
Jaundice 0 -
Obstetric Cholestasis 0 -
Portal Vein Interopathy 0 -
Wilson Disease (Hepatolenticular Degeneration) 0 -
Loeys-Dietz Syndrome (LDS; Loeys Dietz Syndrome; Loeys-Dietz Aortic Aneurysm Syndrome) 1 -
Loin Pain Hematuria 0 -
Loken-Senior Syndrome 1 -
Lordosis 1 -
Lowe Syndrome (Oculocerebrorenal Syndrome) 1 G
Lowry-Wood Syndrome 0 -
Lujan-Fryns Syndrome (X-Linked Mental Retardation-Marfinoid Habitus Syndrome) 1 -
Lung Cysts (Cystic Lung Syndrome) 0 -
Lung Diseases (Spontanous Pneumothorax,Pulmonary Fibrosis) 3 G
Alpha 1 - Antitrypsin Deficiency (Adult) 0 G
Alveolar Capillary Dysplasia 0 -
Bronchial Malacia 5 -
Bronchiectasis 2 -
Bronchiolitis Obliterans 2 -
Chronic Eosinophilic Pneumonia 0 -
Chronic Obstructive Pulmonary Disease (COPD) 1 -
Congenital Cystic Adenomatoid Malformation (CCAM) 24 -
Congenital Lobar Emphysema 7 -
Congenital Pulmonary Lymphangiectasia (Pulmonary Lymphangiectasia) 4 -
Idiopathic Pulmonary Haemosiderosis 3 -
Lymphangioleiomyomatosis 0 -
Macleod Syndrome 0 -
Plastic Bronchitis 0 -
Pneumonia 0 -
Pulmonary Alveoli Mocroliathiasis (Harbitz) 0 -
Pulmonary Haemosiderosis 2 -
Pulmonary Hypoplasia 1 -
Respiratory Synctial Virus (RS-Virus) 0 -
Severe Acute Respiratory Syndrome (SARS) 0 -
Stridor 5 -
Tuberculosis 0 -
Lupus (SLE,Systemic Lupus Erythematosis) 4 G
Lyme Disease 0 -
Lymophoedema (Nonne-Milroy-Meige Syndrome; Milroy's) 2 G
Lymphangioma (Lymphangioma of Abdomen,Lymphangioma of Tongue) 9 -
Lymphangiomatosis of the Bone 7 -
Lymphoedema Microcephaly and Chorioretinopathy 0 -
Lymphoma 0 G
Cystic Lymphoma 1 -
Hodgkin's Disease (NHL) 0 -
Non-Hodgkin's Lymphoma 0 -
Subcutaneous T-cell Lymphoma 0 -
Macrocephaly (Benign Familial Macrocephaly,Familial Macrocephaly) 7 -
Macrocephaly - Cutis Marmorata Telangiectatica Congenita (M-CMTC) 22 G
Madelungs Deformity 9 -
Maffucci Syndrome 2 -
Mainzer-Salidino Retinal Dysplasia 0 -
Majewski Syndrome 0 -
Mal de Debarquement Syndrome 0 -
Malignant Hyperthermia (Malignant Hyperpyrexia) 3 G
Malpuech Facial Clefting Syndrome (Malpuech Syndrome) 0 -
Marden-Walker Syndrome 1 -
Marfan Syndrome 5 G
Marinesco-Sjorgen Syndrome 0 -
Marion's Syndrome 0 -
Maroteaux-Spranger-Wiedemann (Metatrophic Dwarfism Type I) 0 -
Marshall Syndrome 0 -
Marshall-Smith Syndrome 3 -
Martsolf Syndrome 0 -
Maxillonasal Dysplasia (Binder Syndrome) 0 -
May-Hegglin Anomaly 0 -
Mayer-Rokintansky-Kuster-Hauser 0 -
McCune-Albright Syndrome (Albright Syndrome,Polyostotic Fibrous Dysplasia) 17 -
Meckel-Gruber Syndrome (Meckel Syndrome) 19 -
Medium Chain Acyl Co-Enzyme Dehydrogenase 1 -
Meesmann Syndrome 0 -
Meesmanns Syndrome 0 -
Megalencephaly Polymicrogyria Polydactyl Syndrome 1 -
Megalocornea Mental Retardation Syndrome 0 -
Melkersson Rosenthal Syndrome 1 -
Melnick-Needles Syndrome (Osteodysplasy,Melnick-Needles Osteodysplasty) 0 G
Melorheostosis 0 -
Menière's Disease (Endolymphatic Hydrops) 0 -
Meningioma 0 -
Meningitis 4 G
Meningococcal Septicaemia 1 -
Mental Health (Post Natal Depression) 2 G
Bipolar Disorder (Manic Depression, Bipolar Affective disorder Bi Polar Disorder) 13 G
Bipolar Disorder Type II (Bi polar Disorder type II) 1 -
Conduct Disorder and Oppositional Defiance Disorder 30 -
Depression 13 -
Ganser Syndrome 0 -
Manic Depression 0 -
Night Terrors 0 -
Obsessive Compulsive Disorder (OCD) 18 G
Othello Syndrome (morbid jealousy,conjugal paranoia,erotomania,Clerambault syndrome,folie à deux,late paraphrenia) 2 -
Pervasive Refusal Syndrome 7 -
Pre-Natal Depression 0 -
Pschosomatic Illness 0 -
Psychological Disorders 0 -
Psychosis 3 -
Somatising 0 -
Mental retardation aphasia shuffling gait adducted thumbs (MASA Syndrome; Adducted thumb syndrome) 1 -
Metabolic Diseases 6 G
17 Ketosteroid Reductase Deficiency 0 -
3 Hydroxy Acyl CoA Dehydrogenase Deficiency 0 -
3 Methylglutaconic Adicuria 0 -
5 Alpha Reductase Deficiency 0 -
Acquired Partial Lipodystrophy 10 -
Acrodermatitis Enteropathica 2 -
ACTH Deficiency (Isolated ACTH Deficiency) 1 -
Adenylosuccinate Lyase Deficiency 1 -
Alcaptonuria 2 -
Aldosteronism 0 -
Alpers Disease 16 -
Alpha Amino Adipic Aciduria 0 -
Alports Syndrome (Alport Syndrome) 2 -
Amyloidosis 1 -
Arginase Deficiency 0 -
Argininosuccinic Aciduria 6 -
Aromatic Amino Acid Decarboxylase Deficiency 0 -
Barth Syndrome (3 Methylglutaconic Aciduria Type II) 1 G
Bartter Syndrome (aldosteronism-normal blood pressure syndrome; Pseudo-Bartters; aldosteronism with hypokalemic alkalosis; juxtaglomerular hyperplasia syndrome) 4 -
Berardinelli Lipodystrophy 0 -
Biotin Deficiency 1 -
Biotinidase deficiency 1 -
Carbohydrate Deficient Glycoprotein Syndrome 2 -
Carnitine 0 -
Cerebral Lipidosis 0 -
Cerebrohepatorenal 0 -
Cholesteryl Ester Transfer Protein Deficiency 0 -
Chylomocron Retention Disease 0 -
Citrullinaemia 6 -
Congenital Adrenal Hyperplasia (Adrenal Hyperplasia; CAH; adrenogenital syndrome) 8 G
Congenital Chloride Diarrhoea 1 -
Congenital Disorders of Glycosylation (CDG,Carbohydrate Deficient Glycoprotein syndromes) 2 -
Congenital Folate Malabsorption (ICFM) 0 -
Congenital Hyperinsulinism (Persistent Hyperinsulinism Hypoglycaemia of Infancy; PHHI; Nesidioblastosis) 1 -
Creatine Transporter Deficiency Syndrome (SLC6A8 deficiency) 2 -
Cystinosis 1 -
Cystinuria 1 -
Cytochrome C Oxidase Deficiency (COX Deficiency) 1 -
DHPR Deficiency (Phenylketonuria II; Dihydropteridine Reductase Deficiency; Atypical PKU) 1 -
Dihydropyrimidine Dehydrogenase Deficiency 0 -
Ethylmalonic Adipic Aciduria 0 -
Fabry's Disease (Anderson-Fabry Disease, Haemorrhagic Nodular Glycolipid Lipidosis, Angiokeratoma corporis diffusum) 0 G
Fanconi Syndrome 2 -
Fibrodysplasia Ossificans Progressiva (Myositis Ossificans) 0 -
Fish Odour Syndrome 2 -
Gangliosidosis GM1 and GM2 3 -
Glucose 6 Phosphate Dehydrogenase Deficiency 1 -
Glucose Galactose Malabsorption Deficiency 0 -
Guanadinoacetate Methyltransferase (GAMT) 0 -
Hartnup Disease (Tryptophan Malabsorption) 0 -
Hereditary Fructose Intolerance 0 -
Homocystinuria 1 -
Hyperglycinaemia 0 -
Hyperinsulinism (Functional hypoglycaemic syndrome, hyperinsulinism syndrome, organic hyperinsulinism syndrome, Harriss Syndrome, hyperinsulinoma, reactive functional hypoglycaemia.) 2 -
Hyperoxaluria (Oxalosis) 1 -
Hyperphosphatasia 0 -
Hypertriglycridaemia 0 -
Hypocalcaemia 0 -
Hypoglycaemia 0 -
Hypoparathyroidism 9 -
Hypophosphatasia 0 -
Hypophosphatemic Rickets (VitaminResistant Rickets M) 4 -
Idiopathic Hypoparathyroidism 0 -
Isolated ACTH Deficiency Isovaleric Acidaemia 0 -
Kearne-Sayer Disease 5 -
Kearns-Sayer Disease 3 -
Leigh's Disease 25 -
Leukodystrophy 15 -
Lipodystrophy (Berardinelli Lipodystrophy,Mandibuoacral Dysplasia,MAD,Familial Partial Lipodystrophy) 0 -
Long Chain 3 Hydrocylacyl COA Dehydrogenase defice 0 -
Maple Syrup Urine Disease 0 -
Marcus Gunn Syndrome (Jaw Winking Syndrome) 39 -
MCAD 10 -
Medium Chain Acyl Co-Enzyme Dehydrogenase Deficien 1 -
Menkes Syndrome (Kinky Hair Syndrome) 1 -
Metabolic Aciduria 1 -
Methionine Adenosyl Transferase 0 -
Methionine Synthase Deficiency 0 -
Methylenetetrahydrofolate Reductase Deficiency 0 -
Methylglutaconic Aciduria 1 -
Methylmalonic Aciduria 3 -
Mevalonic Aciduria 0 -
Molybdenum Cofactor Deficiency 0 -
Monamine Oxidase Deficiency (MOAD) 0 -
Multiple Hormone Deficiencies 1 -
Neualonic Aciduria 0 -
Neuroaxonal Dystrophy (Seitelberger Disease,Infantile Neuroaxonal Dystrophy) 0 -
Neurovisceral Storage Disease 0 -
Non-Ketotic Hyperglycaemia 1 -
Olivopontocerebellar Degeneration/Atrophy 0 -
Ornithinaemia 0 -
Ornithine Transcarbamylase Deficiency (OTC) 13 -
Oxalosis 1 -
Peroxisomal Defect 0 -
Primary Hypoparathyroidism 1 -
Progeria 0 -
Progeroid Syndrome (Neonatal) 0 -
Pseudo-Hypoaldosteronism 3 -
Pseudocholinesterase Deficiency 4 -
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 -
Richner-Hanhart syndrome (Richner syndrome) 0 G
Sandhoff Disease 0 -
Serine Deficiency 0 -
Serum Cholinesterase Deficiency 3 -
Steroid Sulphatase Deficiency 0 -
Sucrose Intolerance 0 -
Sucrose Isomaltose Enzyme Deficiency 6 -
Thomsen Disease 1 -
Transcobalamin Type II Deficiency 0 -
Transient Neo-Natal Hyperammonaemia 0 -
Trihydoxi Acyl CoA Dehydrogenase Deficiency 0 -
Trimethylamineuria 2 -
Triose Phosphate Isomerase Deficiency 0 -
Triosephosphate Isomerase Deficiency 0 -
Tumoral Calcinosis 0 -
Tyrosinaemia Type 1 1 -
Urea Cycle Disorder 3 -
Very Long Chain Acyl CoA Dehydrogenase Deficiency (VLCAD, VLCADD) 0 -
Vitamin B12 Uptake Deficiency 1 -
Vitamin D Dependent Rickets Type I 0 -
Weidemann Rautenstrauch Syndrome 0 -
Metaphyseal Acroscyphodysplasia 0 -
Mibellis (Porokerotosis) 0 -
Microcephaly 84 G
Microcephaly and Lymphoedema 0 -
Microtia 19 -
Mid-Aortic Syndrome 0 -
MIDAS Syndrome (Microphthalmia with Linear Skin Defects, MLS, Microphthalmia, Dermal Aplasia and Sclerocornea) 0 -
Migraine (Vertebrobasilar Migraine) 3 G
Miller Syndrome 0 -
Miscarriage 1 -
Mitchell's II Syndrome (Barraquer-Simons Syndrome,Partial Lipodystrophy) 4 -
Mitochondrial Cytopathies (Pearson Syndrome,Neuropathy, Ataxia, Retinitis Pigmentosa) 5 -
Complex 1 Deficiency 0 -
Kearns-Sayre Syndrome 8 -
Lactic Acidosis 2 -
MELAS (Melas Syndrome ) 1 -
Mitochondrial Myopathy 12 -
Moebius Sequence/Syndrome 15 -
Momo Syndrome (Macrosomia Obesity Macrocephaly Ocular Abnormality Syndrome) 6 -
Moore-Federman Syndrome 1 -
Morning Glory Syndrome 0 -
Motor Neurone Disease (Progressive Bulbar Palsy,Progressive Muscular Atrophy,Amyotrophic Lateral Sclerosis) 1 G
Primary Lateral Sclerosis 0 -
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 -
Mucopolysaccharide Diseases (Mannosidosis,Sanfilippo syndome,ML II,ML IV,Multiple Sulphatese Deficiency,Morquio Disease,ML III) 4 G
Aspartylglycosaminuria 0 -
Fucosidosis 1 -
Hunter Disease 0 -
Hurler Disease 1 -
I Cell Disease 0 -
Mariteaux Lamy Disease 0 -
Mucolipidosis 1 -
Salla Disease 0 -
Scheie Disease 0 -
Sialic Acid Storage Disease 0 -
Sialidosis 0 -
Sly Disease 0 -
Winchester Syndrome 0 -
Mulibrey Nanism 0 -
Multi Resistant Staphlococcus Aureus (MRSA) 0 -
Multicore/Minicore Disease (Minicore Disease) 0 -
Multifocal Motor Neuropathy 1 -
Multiple Aneurysms 0 -
Multiple Births (Siamese Twins,Twins with Special Needs) 2 G
Multiple Endocrine Neoplasia 0 -
Multiple Endocrine Neoplasia (Type I) 0 G
Multiple Endocrine Neoplasia (Type II) 0 G
Multiple Haemangioma 0 -
Multiple Pterygum Syndrome 0 -
Multiple Sclerosis (Encephalomyelitis Disseminated - Acute, MS) 7 G
Multiple System Atrophy 0 G
Multisystem Vasculitis Disorder 0 -
Munchausen Syndrome 0 -
Muscular Dystrophy 1 G
Becker Muscular Dystrophy 2 G
Bethlem Myopathy (Benign Congenital Muscular Dystrophy) 9 -
Central Core Myopathy 1 -
Congenital Fibre Type Disproportional Myopathy 2 -
Congenital Muscular Dystrophy (Oculocerebromuscular) 10 -
Distal Muscular Dystrophy (Markesbery distal myopathy) 0 -
Limb Girdle Muscular Dystrophy 0 -
Partial Paralysis 0 -
Ullrich Muscular Dystrophy (Ullrich Disease; Ullrich Scleroatonic Muscular Dystrophy, Ullrich Congenital Muscular Dystrophy, UCMD) 8 -
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 -
Myelin Deficiency (Delayed Myelination) 14 -
Myoclonus 0 -
Benign Myoclonus of Infancy (Benign Myoclonus) 1 -
Focal Myoclonus 0 -
Juvenile Myoclonic Epilepsy 5 -
Posthypoxic Myoclonus 0 -
Progressive Myoclonus Epilepsy 1 -
Segmental Myoclonus 0 -
Myokymia with Periodic Ataxia (Neuromyotonia and Myokymia) 0 -
Myoshi Myopathy 0 -
Myotonic Dystrophy (Steinert Syndrome) 22 -
Myotubular Myopathy (Centronuclear Myopathy) 4 -
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 -
Near Drowning 0 -
Necrotising Enterocolitis 6 -
Necrotising Fasciitis 0 -
Nemaline Myopathy 0 -
Neonatal Abstinence Syndrome 0 -
Neonatal Disorders 1 -
Birth Trauma 5 -
Hypoxic Ischaemic Encephalopathy 26 -
Nephrogenic Diabetes Insipidus 2 -
Neuhauser Syndrome 0 -
Neuralgic Amyotrophy (Parsonage Turner Syndrome) 0 -
Neuroacanthocytosis 0 G
Bassen-Kornzweig syndrome (Abetalipoproteinemia; Acanthocytosis; Apolipoprotein B deficiency) 1 -
Levine-Critchley syndrome (Choreoacanthocytosis; Chorea-acanthocytosis; ChAc) 0 -
McLeod syndrome (McLeod Acanthocytosis syndrome) 0 -
Pantothenate Kinase Associated Neurodegeneration (PKAN; Neurodegeneration with Brain Iron Accumulation; Hallervorden-Spatz syndrome) 0 -
Neuroblastoma 3 G
Neurocutaneous Melanosis 0 -
Neuroectodermal Disorder 0 -
Neurofibromatosis (Von Recklinghausen Disease) 46 G
Neurological Features 0 -
Mirror Movements 0 -
SUNA (Short lasting unilateral neuralgiform headache attacks with cranial autonomic symptoms) 0 -
Neuromuscular Disorders 2 -
Chronic Inflamatory Demyelinating Polyneuropathy (Demyelination Peripheral Neuropathy) 0 -
Davidenkow syndrome (Neuropathic scapuloperoneal syndrome) 0 -
Desmin-Related Myopathy (Desminopathy) 0 -
Hereditary Neuropathy with liability to pressure palsies 1 -
Hyperkalaemic Periodic Paralysis 2 -
Hypokalaemic Periodic Paralysis (Gamstorp Disease) 0 -
Myotonic Periodic Paralysis 0 -
Normokalaemic Periodic Paralysis 0 -
Neuronal Migration Disorder (Double Cortex Syndrome,Neuromigratory Disorder,Subcortical band heteretropia) 0 -
Hereditary Nodular Heterotopia (Periventricular Nodular Heterotopia, Subependial Nodular Hetero) 1 -
Neuropathic Pain Disorder 0 -
Neurotransmitter disease 0 -
GTP Cyclohydrolase 1 Deficiency (Dopa-Responsive Dystonia,Dopa,Responsive) 0 -
Succinic Semialdehyde Dehydrogonase Deficiency (SSADH) 0 -
Tyrosine Hydroxylase Deficiency 0 -
Nicolaides-Baraitser Syndrome (SPARSE HAIR AND MENTAL RETARDATION) 5 -
Niemann-Pick Disease (Sphingomyelin Lipidosis) 4 G
Neville Disease 0 -
Niemann-Pick Disease Type A 0 -
Nijmegan Breakage Syndrome 0 -
Non Verbal Learning Difficulty (NLD) 17 -
Non-Epileptic Seizures (Pseudsoseizures) 4 -
Noonan Syndrome 37 -
Norrie Disease (Norries) 4 -
Obesity 1 -
Ocular Albinism 1 -
Ocular Cerebral Hypopigmentation Syndrome 0 -
Oculo-Dento-Digital Syndrome 6 -
Oculocerebrocutaneous Syndrome (Delleman Syndrome) 1 -
Oesophageal Atresia 0 -
OHDO Syndrome 4 G
Okihiro Syndrome 2 -
Ollier's Disease (Enchondromatosis) 38 -
Olmodysplasia 0 -
Opercular Syndrome (Foix Chavany-Marie Syndrome) 0 -
Opitz Syndromes 3 -
FG Syndrome (Opitz-Kaveggio syndrome; Opitz FG syndrome; Keller syndrome) 4 -
Opitz BBB Syndrome (BBB Syndrome; Opitz G Syndrome; Opitz-Frias Syndrome; dysphagia-hypospadias syndrome; hypertelorism-oesophageal abnormality; hypospadias-dysphagia syndrome. ) 10 -
Opitz-Christian Syndrome (Hypertelorisim-Hypospadias,Christian-Opitz Syndrome) 0 -
Optic Glioma 4 -
Optic Neuritis 1 -
Optic Neuromyelitis 0 -
Oral-Facial-Digital Syndromes (OFD Syndrome,Varadi-Papp Syndrome,Mohr Syndrome,Orofaciodigital Syndrome) 3 -
Oral-Facial-Digital Syndrome Type VI 0 -
Orchidoplastyy 0 -
Organic Acidaemias 1 -
3-hydroxy-3-methylglutaric aciduria 0 -
3-Hydroxy-3-methylglutaryl-CoA lyase Deficiency 2 -
Glutaric Acidaemia Type I 1 -
Glutaric Acidaemia Type II 0 -
Glutaric Acididura 0 -
L2-hydroxyglutaric aciduria 0 -
Propionic Acidaemia 2 -
Osteoitis Pubis 1 -
Osteomyelitis (Benign Relapsing Multi-Focal Osteomyelitis) 0 -
Chronic Recurrent Multifocal Osteomyelitis (CRMO) 6 -
Osteopathia Striata 7 -
Osteopetrosis (Albers-Schonberg Syndrome) 0 G
Osteopoikilosis 0 -
Osteoporosis 2 -
OTA's Syndrome (Ocular Dermal Melanocytosis) 0 -
Oto-palato-digital Syndrome 0 -
Otofaciocervical Syndrome 0 -
Pachydermoperiostosis (Touraine-Solenti-GolT Syndrome) 0 -
Pachygyria 4 -
Pachymyelitis 0 -
Paget's Disease (Paget's Disease of the Bone; Paget disease) 0 G
Pallister Killian Syndrome 7 G
Pallister-Hall Syndrome 1 -
Pancreatitis 0 G
Chronic Pancreatitis 1 -
PANDAS (Paediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcal Infections) 3 -
Paraplegia 1 -
Parinauds Syndrome 0 -
Parkinson's Disease (Parkinsonism,Parkinson's Plus) 1 G
Paroxysmal extreme pain disorder (PEPD,FRP,Hayden-Grossman Syndrome; Familial rectal pain) 4 -
Paroxysmal Nocturnal Hemoglobinurea 0 -
Parry-Romberg Syndrome (Romberg Syndrome) 1 -
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 -
Pearson Syndrome 1 -
Pectus Excavatum 3 -
PEHO Syndrome (Progressive Encephalopathy with Edema, Hypsarrythmia Optic Atrophy) 2 -
Pelizaeus-Merzbacher Syndrome 3 -
Pena-Shokeir I Syndrome (Fetal Akineasia Deformation Sequence) 0 -
Pena-Shokeir II Syndrome (COFS Syndrome,Cerebro-Oculo-Facio-Skeletal Syndrome) 0 -
Pentalogy of Cantrell 13 -
Peripheral Neuropathy (Polyneuropathy,Chronic Hereditary Polyneuropathy,Mononeuritis Multiplex) 2 G
Andrade Syndrome (Neuropathic Amyloidosis) 0 -
Chronic Hereditary Polyneuropathy 0 -
Churg-Strauss Syndrome 0 -
Diabetic Neuropathy 0 -
Giant axonal neuropathy 1 -
Mononeuritis Multiplex (Neuritis Multiplex Cutanea) 0 -
Mononeuropathy 0 -
Polyneuropathy 0 -
Peripheral Primitive Neuroectodermal Tumour 0 -
Periventricular Leukomalacia 29 -
Perlman Syndrome 0 -
Peutz-Jeghers Syndrome (Multiple Poliposis) 0 -
PFAPA Syndrome 1 -
Phacomoatosis Pigmentokeratotica 1 -
Phenylketonuria (PKU) 3 G
Maternal PKU (Maternal Phenylkentouria) 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 -
Pitt-Hopkins Syndrome 9 -
Pitt-Rogers-Danks Syndrome (Pitt Syndrome) 0 -
Pituitary Disorders (Hypopituitarism,Diabetes Insipidus) 7 G
Acromegaly 0 -
Cushing Syndrome (Cushing Disease) 1 G
Diabetes Insipidus 11 -
Hypogonadotropic Hypogonadism 0 -
Isolated Gonadotropin Deficiency 0 -
Kallman Syndrome 1 -
Macro-adenoma 0 -
Panhypopituitarism 10 -
Pituitary Deficiency 3 -
Prolactinoma 0 -
Plasminogen Activator Deficiency 0 -
Platelet Storage-Pool Disease 0 -
Plott Syndrome 0 -
Pneumatosis Cystoides Intestinalis 0 -
POEMS Syndrome (Crow-Fukase Syndrome) 0 -
Poisoning 1 -
Carbon Monoxide Poisoning 0 -
Copper Poisoning 0 -
Food Poisoning 0 -
Lead Poisoning 1 -
Poliomyelitis (Infantile Paralysis) 3 G
Acute Anterior Poliomyelitis 0 -
Post Polio Syndrome 2 -
Pollitt Syndrome 0 -
Polyarteritis Nodosa (Kussmaul-Maier Syndrome; Periarteritis Nodosa) 4 -
Polychondritis 1 -
Polycystic Kidney and Lung Hypoplasia 0 -
Polycystic Ovaries 2 G
Polydactyly 1 -
Polymorphic Light Eruption (PLE) 0 -
Polysplenia (Bilateral left-sidedness) 0 -
Pontocerebellar Hypoplasia 20 -
Popliteal Pterygium Syndrome (Popliteal Web Syndrome) 7 -
Porencephalic cyst 9 -
Porencephaly (Cystic Encephalomalacia) 9 -
Porphyria 0 G
Acute Intermittent Porphyria 4 -
ALA Dehydratase Deficiency 0 -
Congenital Porphyria 0 -
Ethropoietic Protoporphyria 3 -
Hereditary Corroporphyria 0 -
Porphyria Cutanea Tarda 0 -
Variegate Porphyria 0 -
Portal Hypertension 0 -
Post Traumatic Stress Disorder 3 -
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
Preauricular Pits 1 -
Premature Ejaculation 0 -
Pressure Palsy 0 -
Presumed Ocular Histoplasmosis 0 -
Primary Ciliary Dyskinesia (Immotile ciliary syndrome,Immotile ciliary dysfunction) 2 G
Ciliary Dyskinesia 0 -
Kartagener Syndome 0 -
PCD 0 -
Primary Immune Deficiencies (C1 Inhibitor deficiency; Leukocyte Adhesion Defect; Interferon Gamma Deficiency; ) 5 G
Adenosine Deaminase Deficiency (ADA) 1 -
Agammaglobulinaemia 2 -
Brutons's Disease (x-linked agammaglobulinaemia; XLA) 0 -
Chronic Mucocutaneous Candidiasis 0 -
Common Variable Immunodeficiency (CVID) 1 -
Complement Deficiencies 0 -
Congenital Asplenia 1 -
Duncan Syndrome (X-Linked Proliferative Syndrome; XLP; Purtillo's syndrome) 1 -
HLA Deficiency Expression 0 -
Hypogammaglobulinaemia 0 -
Hypoglobulinaemia 0 -
ICF 0 -
IgA Deficiency 6 -
IGG Deficiency 4 -
Immunodeficiency Centromefic Instabilities and Fac 0 -
Immunodeficiency with Partial Albinisim 0 -
Immunoglobulin Light Chain Deficiency 0 -
Interleukin Deficiency 0 -
Job's Syndrome (Hyper IgE Syndrome) 24 -
Leucocyte Adhesion Defect 0 -
Linear IgA 1 -
Linear IgA Bullous Dermatosis 0 -
Neutrophil Disorders 1 -
Omenn's Syndrome 5 -
Pseudoachondrodysplasia 1 -
Purine Nucleoside Phosphorylase Deficiency (PNP) 0 -
Reticular Dysgenesis 0 -
Selective IgA Deficiency 0 -
Severe Combined Immunodeficiency (SCID) 6 -
T-Cell receptor signalling defect 0 -
Vitamin K Deficiency (Hypoprothrombenaemia) 0 -
Wiskott-Aldrich Syndrome 0 -
X-Linked Proliferative Disease 0 -
X-linked severe combined immunodefiency (Interleukin 2 Receptor Gamma chain Deficiency) 0 -
Primary Pulmonary Hypertension 4 G
Prion Diseases 0 -
Creutzfeld-Jacob Disease (CJD,Creutzfeld Jacob) 0 G
Gerstmann-Straussler-Scheinker disease (Gerstmann Straussler Scheinker, GSS) 0 -
Proctalgia Fugax 1 -
Progressive Multifocal Leukoencephalopathy 0 -
Progressive Osseous Heteroplasia 0 -
Progressive Supranuclear Palsy (Richardson-Steele-Olszewski Syndrome) 0 G
Prolapsed Rectum (Prolapsed Bowel) 0 -
Prolapsed Umbilical Cord 0 -
Prolapsed womb 0 -
Proteus Syndrome 8 G
Protruding Ears 0 -
Prune Belly Syndrome 13 G
Pseudo Xanthoma Elasticum (PXE) 0 -
Pseudo-Bulbar Palsy 1 -
Pseudoarthrosis (Congenital Pseudoarthrosis) 2 -
Pseudodiastrophic Dysplasia 1 -
Pseudoglioma 0 -
Psoriasis 0 G
Psoriatic Arthropathy 1 G
Psuedotoxoplasmosis Syndrome 0 -
Pulmonary Eosinophilia 0 -
Pulmonary Hypertension 2 -
Pulmonary Vascular Diseases in Childhood (Pulmonary veno-occulusive disease,Invasive Pulmonary Capillary Haemangiomatosis,Embolic pulmonary vascular disease) 0 -
Purine and Pyrimidine Metabolic Diseases (Myoadenylate Deaminase Deficiency,Gout (Purine)) 0 -
Lesch-Nyhan Syndrome 16 -
Pyle's Disease (Metaphyseal Dysplasia) 0 -
Pyloric Stenosis 1 -
Raine Syndrome 0 -
Rapid-onset Obesity with Hypothalamic Dysfunction, Hypoventilation and Autonomic Dysregulation (ROHHAD) 0 -
Raynaud's Phenomenon (Erythromelalgia,Erythermalgia) 4 G
Reactive Attachment Disorder (Attachment Disorder) 9 -
Reese-Ellsworth Syndrome (Anterior Chamber Cleavage) 0 -
Reflex Anoxic Seizures (Pallid Infantile Syncope,Vasovagal Syncope) 20 G
Reflex Sympathetic Dystrophy 5 G
Reiter's Syndrome 0 -
Relapsing Polychondritis 0 G
Renpenning Syndrome 0 -
Repetitive Strain Injury 0 -
Reproductive System Anomalies (Genital Abnormalities,Indeterminate Gender,Indescended Testes) 0 -
Ambiguous Genitalia 1 -
Micropenis 4 -
Rokitansky Syndrome 17 -
Uterus Didelphys 4 -
Respiratory Distress Syndrome (Hyaline Membrane Disease) 1 -
Respiratory Synkinesis (Breathing Hands Sydnrome) 1 -
Restless Legs Syndrome (Wittmaak-Ekbom Syndrome,Ekbom Syndrome) 0 -
Restricted Growth (Intrauterine Growth Retardation,Pseudoachondroplasia) 0 G
Achondroplasia 27 -
Acromesomelic Dysplasia 2 -
Brachytelaphangic Chondrodysplasia Punctata 2 -
Diastrophic Displasia (Diastrophic Dwarfism) 4 -
Dyschondrosteosis (Leri-Weill Syndrome) 2 -
Hypochondroplasia (Hypochondrodysplasia) 13 -
Intrauterine Growth Retardation 2 -
Kniest Syndrome (Metatrophic Dwarfism Type II) 2 -
Majewski Osteodysplastic Primordial Dwarfism ( Caroline Crachami osteodysplastic primordial dwarfism, MOPD) 2 -
Majewski Osteodysplastic Primordial Dwarfism Type II ((MOPD II)) 0 -
Metaphyseal Anadysplasia 0 -
Metaphyseal Chondrodysplasia 1 -
Metaphyseal Chondrodysplasia (Type McKusick) (Cartilage Hair Hypoplasia) 1 -
Pseudoachondroplasia 2 -
Spondylo Epiphyseal Dysplasia Tarda X-Linked 0 -
Thanatophoric Dysplasia/Dwarfism 0 -
Three M Syndrome 0 -
Retinoblastoma (Cancer of the Eye) 0 G
Retinodysphasia 0 -
Retroperitoneal Fibrosis 0 -
Rett Syndrome 13 G
Reye Syndrome 0 G
Rh Incompatibility 0 -
Rhabdoid Tumour 0 -
Rhabdomylosis 0 -
Rheumatic Fever (Acute Rheumatic Fever) 0 -
Rhinencephaly 0 -
Ritscher-Schinzel Syndrome 5 -
Ritters Syndrome 0 -
Roberts Syndrome 6 -
Robinow Syndrome (Robinow Silverman Smith Syndrome) 0 -
Robinson Syndrome 0 -
Rosenberg-Chutorian Syndrome 0 -
Rothmund-Thomson Syndrome 2 -
Roussy-Levy Syndrome 1 -
Rubinstein-Taybi Syndrome (Broad Thumb-Great Toe Syndrome) 10 -
Rud Syndrome 0 -
Ruvalcaba Syndrome 0 -
Sacral Agenesis 36 G
Sacrocyccygeal Tumour 0 -
Sacroilliac facit joint syndrome 0 -
Sandifer Syndrome 2 -
Sarcoidosis 0 G
Scheuermann's disease (Spinal Osteochondrosis) 3 -
Schimke Immunoosseous Dysplasia 2 -
Schinzel-Giedion Syndrome 2 -
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 -
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 -
Secreting Adrenal Carcinoma 0 -
Selective Mutism (Elective Mutism) 46 G
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 -
Shaken Baby 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 -
Sickle Cell Disorders (Sickle Cell Anaemia) 3 -
Silicosis 2 -
Simpson-Golabi-Behmel Syndrome (Golabi-Rosen Syndrome) 13 -
Situs Inversus 1 -
Sjögren Syndrome (Sjogren Syndrome) 0 G
Skeletal Problems 1 -
Herniated Disc 0 -
Kenny Caffey syndrome (Kenny Disease, Kenny Syndrome, Congenital Medullary Stenosis, Tubular Stenosis; Kenny Type) 0 -
Skin Disorders 0 -
Actinic Prurigo 0 -
Acute Haemorrhagic Oedema of Infancy (Seidlmayer's Disease,Finkelstein's Disease,Acute Haemorrhagic Edema of Infancy) 1 -
Acute Pityriasis Lichenoides 3 -
Alopecia Mucinosa (Follicular Mucinosis) 0 -
Angiokeratoma 0 -
Aplasia Cutis (Cutis Aplasia Congenita) 30 -
Atrophoderma Vermiculata 2 -
Buschke Ollendorff Syndrome 1 -
Chronic Actinic Dermatitis (photosensitivity dermatitis/actinic reticuloid syndrome (PD/AR)) 3 -
Darier Disease 2 -
Hidradenitis Supurativa 1 -
Hopf Disease (Acrokeratosis Verruciformis; Acrodermatitis Verruciformis) 0 -
Hyperkeratosis 0 -
Inflammatory Linear Verrucous Epidermal Nevus (ILVEN) 1 -
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 -
Molluscum Contagiosum 0 -
Naevus Sebaceous (Nevus Sebaceous) 0 -
Panniculitis 0 -
Pemphigus Vulgaris 1 G
Pityriasis Ruba Pilaris 0 -
Pityriasis Versicolor 0 -
Pompholyx 0 -
Pyoderma Gangrenosum 0 -
Steroid (long term use) Induced Skin Disorder 0 -
Sweet Syndrome (Acute Febrile Neutrophilic Dermatosis; neutrophilic dermatitis) 0 -
Ulerythema Ophyogenes 2 -
Sleep Disorders (Rythmic Movement Disorder) 1 -
Obesity-Hypoventilation Syndrome 0 -
Sleep Apnoea 5 -
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 -
Solar Utricaria 0 -
Spastic Quadriplegia 2 -
Speech and Language Impairment 50 G
Aphasia 4 -
Developmental Verbal Dyspraxia 37 -
Dysarthria 1 -
Dysphagia 1 -
Dysphonia 0 -
Hyperlexia 1 -
Oral Dyspraxia 22 -
Semantic Pragmatic Disorder (Pragmatic Disorder) 10 -
Verbal Dyspraxia 41 -
Spherocytosis (Hereditary) 32 -
Spina Bifida (Occipital Encephalocele,Meningoencephaly) 55 G
Central Cleft of Lip/Encephalocele 0 -
Encephalocele 2 -
Lipomyelomeningocele 3 -
Spinal Cysts (Spinal Defrayism) 0 -
Spinal Injuries 5 G
Brown-Séquard Syndrome 0 -
Cauda Equina Lesion 0 -
Spinal Muscular Atrophy 1 G
Intermediate SMA 1 -
Kennedy Disease 2 -
Kugelberg-Welander Disease 0 -
Mild SMA 0 -
Severe SMA 0 -
Spinal Muscular Atrophy with Respiratory Distress (SMARD1) 1 -
Werdnig-Hoffmann Disease 0 -
Splenectomy 0 -
Spondylo Epiphyseal Dysplasia (SED) 5 -
Spondylocostal Dysplasia 0 -
Spondylolisthesis 1 -
Sprengle's Deformity 1 -
Stammering 0 G
Staphylitis 0 -
Stein Leventhal Syndrome 0 -
Steroid Abuse 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
Storage Pool Platelet Disease 1 -
Stormorken syndrome 0 -
Stroke (Spinal Stroke,Transient Ischaemic Attack) 4 G
Vertebrobasilar Stroke 0 -
Sturge-Weber Syndrome (Encephalofacial Angiomatosis,Sturge Webber Syndrome) 12 G
Subacute Sclerosing Panencephalitis (SSPE) 1 G
Subglottic Stenosis 3 -
Sudden Adult Death Syndrome 0 -
Sudden Infant Death Syndrome (SIDS) 0 -
Supraventricular Tachycardia (SVT) 0 -
Sydenham Chorea (Sydenham's Chorea) 7 -
Synaesthesia 0 -
Syndactyly (Webbed Fingers/Toes) 3 -
Synovitus 0 -
Syringobulbia 3 -
Syringomyelia 23 G
Systemic Mastocytosis (Diffuse Cutaneous Mastocytosis) 5 -
Takayasu Arteritis 0 -
TAR Syndrome (Thrombocytopenia with Absent Radii) 10 G
Tardive Dyskinesia 0 -
Taussig- Bing Syndrome 1 -
Tay Sachs Disease 7 -
Tay Syndrome (Trichothiodystrophy with Congenital Ichthyosis) 0 -
Technology Dependency 0 -
Assisted Ventilation 4 -
Oxygen Dependency 0 -
Tel Hashomer Camptodactyly 0 -
Temporal Arteritis 0 -
Temporomandibular Joint Syndrome (TMJ; Temporomandibular Joint Pain Dysfunction Syndrome; Costen Syndrome) 3 -
Bruxism (Teeth Grinding) 1 -
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 -
Thoracic Outlet Syndrome 0 -
Thrombotic Thrombocytopenic Purpura (TTP,Moschcowicz Syndrome) 2 -
Thyroid Disorders 6 G
Auto-Immune Thyroid Deficiency 3 -
Graves Disease 2 -
Hashimoto Syndrome (Autoimmune Thyroidism) 5 -
Hyperthyroidism 1 -
Hypothyroidism 17 -
T3 Toxicosis 0 -
Thyroglossal Cyst 0 -
Thyroid Aplasia 0 -
Tic Disorders 1 -
Chronic Tic Disorder 1 -
Transient Tic Disoder 0 -
Timothy Syndrome (Long QT with Syndactyly) 2 -
Tinnitus (Post-natal Tinnitus) 0 G
Tnf Receptor Associated Periodic Syndrome (TRAPS) 0 -
Toddler Diarrhoea 0 -
Toe walking 0 -
Tolosa Hunt Syndrome 0 -
Tongue Tie (Ankyloglossia) 1 -
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 of the Testicle 0 -
Testicular Infarction (bilateral testicular infarction) 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
Congenital Laryngeal Stricture 0 -
Laryngomalacia (Epiglottopexy) 6 -
Ttracheomalacia 0 -
Vocal Cord paralysis 0 -
Transplants (Post-transplant Lymphoproliferative Disorder) 1 -
Transverse Myelitis 0 -
Treacher-Collins Syndrome (Franceshetti-Klein,First Arch Syndrome,Mandibulo Dysostosis) 1 -
Trichotillomania 1 -
Trigeminal Neuralgia (Tic Douloureux) 0 G
Trigonitis 0 -
Trigonitis Pseudomembranous Idiopathic 0 -
Tube Feeding (Gastrostomy) 28 -
Tuberous Sclerosis (Epiloia,Bourneville Syndrome) 16 G
Tumours 1 -
Apendoma 0 -
Astrocytoma 1 -
Benign Spinal Cord Tumour (Spinal Cord Tumour) 0 -
Bone Tumour 0 -
Brain Tumour (PNET; Apendeoma; Pilocystic Astrocytoma) 5 G
Carcinoid Disease (Carcinoid Syndrome) 0 -
Cowden Syndrome (Multiple Hamartoma Syndrome) 0 -
Craniopharyngioma 0 -
Desmoid Tumour (Musculo-aponeurotic fibromatosis; aponeurotic fibromatosis; agressive fibromatosis) 1 -
Dysembryoplastic Neuroepithelial Tumour 2 -
Epithelioid Haemangioendothelioma 0 -
Glomangioma (angiomyoneuroma; angioneuroma) 1 -
Juvenile Angiofibroma (Angiofibroma; Juvenile Nasopharyngeal Angiofibroma) 0 -
Medulloblastoma 1 -
Multiple Epitheliomata 0 -
Phaeochromocytoma 0 -
Pheochromocytoma 0 -
Pilocystic Astrocytoma 0 -
Pinealoma 0 -
Rhabdomyoma 0 -
Syringoma 0 -
Turner Syndrome (XO Syndrome,Bonnevie-Ullrich Syndrome,Gonadal Dysgenesis (XO),Monosomy X) 28 G
Mosaic XO/XY Turner Syndrome 9 -
Ulcerative Colitis (Pioderma Gangrenosum) 2 -
Undiagnosed Bone Disorders 0 -
Undiagnosed Endocrine Disorders 1 -
Undiagnosed Learning Disability 15 -
Undiagnosed Metabolic Disorders 1 -
Ureter Defects 0 -
Urethrocele 0 -
Urofacial Syndrome (Ochoa Syndrome) 0 -
Urological Conditions 0 -
Posterior Urethral Valves (PUV) 5 -
Urostomy 0 -
Urological Conditions Neurogenic Bladder 2 -
Urticaria (Urticaral Vasculitis,Cold Urticaria,Aquagenic Urticaria) 0 -
Urticaria Pigmentosa (Cutaneous Mastocytosis,Mastocytosis) 12 -
Usher Syndrome 1 G
Van Bogaert's Syndrome 0 -
Van Buchem Syndrome (Endosteal Hyperostosis) 0 -
Van der Woude Syndrome (Demarquay Syndrome) 1 -
Varicella (Chicken Pox) 0 -
Congenital Varicella 1 -
Vascular Disorders 1 -
Arteriovenous Malformation 2 G
Vasculitis 1 -
VATER Association D (VATERL Association) 3 -
Veno-occlusive Disease 0 -
Vernal Conjunctivitis 0 -
Vertigo 0 -
Vestibular disorders (Balance disorders) 1 -
Viral Infection (Herpes Virus) 0 -
Charles Bonnet Syndrome (Bonnet Syndrome) 0 -
Visceral Myopathy 0 -
Visual Impairment/Disorders 39 G
3rd Nerve Palsy of the Eye 2 -
Achromatopsia 0 -
Acute Zonal Occult Outer Retinopathy (AZOOR) 0 -
Adie Syndrome (Holmes-Adie Syndrome) 2 -
Ametropia 0 -
Aniridia (Congenital Abnormality of the Iris) 13 -
Anophthalmia (Heminasal Aplasia) 4 G
Axenfeld Syndrome (Axenfeld Anomaly; Axenfeld-Rieger Syndrome; Rieger Syndrome) 0 -
Axenfeld-Schürenberg Syndrome (Cyclic Oculomotor Paralysis; Congenital Cyclic Oculomotor Paralysis) 0 -
Cataracts 20 G
Choroideremia 0 -
Chromotosia Congenita 0 -
Coats' Disease (Exudative Retinitis) 8 -
Coloboma 13 -
Colourblindness 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 Stationary Night Blindness 6 -
Corneal Dystrophy 5 -
Eales Disease 1 -
Familial exudative vitreoretinopathy (FEVR) 2 -
Glaucoma 10 G
Homonymous Hemianopia 6 -
Idiopathic Optic Atrophy 1 -
Keratoconus 2 G
Macular Disease 0 G
Macular Dystrophy 1 -
Microphthalmia 5 -
Nystagmus (Spasmus nutans,Congenital Idiopathic Nystagmus) 21 G
Nystagmus and Astigmatism 7 -
Ocular Disorders (Drusen Syndrome) 0 -
Optic Nerve Atrophy 6 -
Optic Nerve Dysplasia 2 -
Optic Nerve Hypoplasia 20 -
Persistant Hyperplastic Primary Vitreous 2 -
Peter's Anomaly 7 -
Peter's Plus Syndrome (Peter's Plus Anomaly) 11 -
Pigment Epithelium retinal detachment 0 -
Post Polymorhous Corneal Dystrophy 0 -
Reis-Büclers (Reis-Bncklers) 0 -
Retinitis Pigmentosa (Bulls Eye Dystrophy; Central Areola Choroidal Dystrophy; Retinal Dystrophy, Tapeto Retinal Degenaration) 2 G
Retinopathy of Prematurity 1 -
Rieger's Anomaly 1 -
Rod Monochromatisim 0 -
Sclerocornea 3 -
Spheromicrophakia 0 -
Thyroid Eye Disease (Thyroid Ophthalmopathy; Thyroid Associated Ophthalmopathy; Graves' Eye Disease; Graves' Ophthalmopathy ) 1 G
Uveitis 1 G
Visual Spatial Disorder 0 -
Vitamin B12 Uptake Deficiency M 0 -
Vitiligo (Leukoderma) 0 G
Vogt-Koyanagi-Harada Syndrome 0 -
Von Hippel-Lindau Syndrome 2 G
Vulvodynia (Vulvar Dysesthesia) 1 -
Waardenburg's Syndrome 7 -
Klein-Waardenburg Syndrome 0 -
WAGR Syndrome 6 -
Waldenstrom's Macroglobulinaemia 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 M 0 -
Weidemann Syndrome 0 -
Weismann-Netter Stuhh 0 -
Wells Syndrome 0 -
Werner Syndrome (Progeria of Adulthood) 0 -
Wernicke Korsakoff Syndrome (Wernicke Encephalopathy) 1 -
West Syndrome (Salaam Attacks,Jackknife Convulsion,Infantile Spasms) 64 G
Whipples Disease 0 -
Wildervanck Syndrome (Cervico oculo acoustic Syndrome) 2 -
William's Syndrome (Hypercalcaemia, Infantile Hypercalcaemia) 30 G
Wilms Tumour (Nephroblastoma) 2 -
Wilson-Mikity Syndrome (Cystic Pulmonary Emphysema,Interstitial Prematurity Fibosis,Neonatal Cystic Pulmonary Emphysema) 0 -
Winter-Tsukahara 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) 3 -
Wooly-hair syndrome (Wooly hair syndrome,whs) 0 -
Worster-Drought Syndrome (Congenital Suprabulbar Paresis; Supra Bulbar Paresis; Suprabulbar Palsy) 19 G
X-linked Hypophosphatemic Rickets (Hypophosphatemic Rickets) 0 -
X-linked Juvenile Retinoschisis (Hereditary Retinoschisis) 8 -
Xeroderma Pigmentosum (Kaposi's Syndrome II,De Santis-Cacchione Syndrome) 0 G
XXX Syndrome (Triple X) 3 -
XXYY Syndrome 0 -
Young Syndrome (Barry-Perkins-Young) 0 -
Young-Simpson Syndrome 0 -
Yunis Varon Syndrome 0 -
Zollinger Ellison Syndrome 0 -