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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
22q11 Deletion syndromes 54 G
DiGeorge syndrome 45 -
Velo-Cardio-Facial syndrome (VCFS; Sprintzen syndrome; Catch 22) 9 G
Aarskog syndrome (Aarskog-Scott syndrome; Greig syndrome; facial digital genital syndrome; facio genital dysplasia; shawl scrotum syndrome) 23 -
Aase-Smith syndrome 3 -
Abdominal Exstrophies (Umbilical Hernia) 1 G
Exomphalos (Omphalocele) 4 -
Gastroschisis 7 -
Abdominal Migraine 33 -
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) 2 -
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) 27 G
Addison disease (Adrenal Hypoplasia) 16 G
Adrenoleukodystrophy (Adrenomyeloneuropathy; Schilder's disease; Sudanophilic leukodystrophy; ALD) 5 G
Adrenomyelopathy 0 -
Adynamic Oesphagus 0 -
Agenesis of the Corpus Callosum (Dysgenesis of the Corpus Callosum; Agenesis of the Corpus Callosum + Choroid Plexus Lipoma) 117 G
Aicardi syndrome 7 -
Albinism (Piebaldism; Oculocerebral syndrome with Hypopigmentation) 7 G
Hermansky-Pudlak syndrome (HPS; HPS1; HPS2; HPS3; HPS4; HPS5; HPS6; HPS7; HPS8) 1 -
Albright Hereditary Osteodystrophy (AHO; Albright's Hereditary Osteodystrophy) 59 G
Alkaptonuria 4 G
Allan Hurndon Dudley syndrome (Allen Hurndon syndrome) 8 -
Allergies (Milk Intolerance) 44 G
Allergic Colitis 5 -
Allergic Enteropathy 4 -
Lactose Intolerance (Hypolactasia) 7 -
Latex Allergy 6 -
Multiple Chemical Sensitivity 0 -
Piriton Allergy 0 -
Uticaria (Angioedema) 0 -
Alopecia (Congenital Hypotrichosis; ) 0 G
Alopecia Areata 4 -
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) 8 G
Alpha-feto protein deficiency 1 -
Alström syndrome (Alstrom syndrome) 1 G
Alternating Hemiplegia (Alternating Hemiplegic Migraine) 5 G
Ambidexterous 0 -
Amelogenesis Imperfecta (Trichodento-Osseous) 2 -
Amnesia 0 -
Amnesic syndrome 0 -
Amniotic Band syndrome 4 -
Anaemias 0 -
Acquired Aplastic Anaemia 1 G
Aplastic Anemia (Hyoplastic Anaemia) 2 -
Autoimmune Haemolytic Anaemia 1 -
Congenital Dyserythropiectic Anaemia (Dyserythropoiectic Anaemia) 6 -
Congenital Dyserythropoietic Anemia Type II 0 -
Folate Deficiency Anaemia 0 -
Haemoglobinaemia 0 -
Haemolytic Anaemia 1 -
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) 6 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) 5 G
Anencephaly 9 -
Angelman syndrome 67 G
Angina Bullosa Haemorrhagica (oral blisters; oral blood blisters) 8 -
Ankylosing Spondylitis 2 -
Anonychia-onychodystrophy with Hypoplasia/Absence of Distal Phalanges (Cooks syndrome; Cook syndrome; OPD; Anonychia - Onychodystrophy with Hypoplasia/Absence of Distal Phalanges; Anonychia-onychodystrophy with Hypoplasia or Absence of Distal Phalanges) 1 -
Anorectal Conditions 3 -
Persistent Cloaca 1 -
Anosmia (Congenital Anosmia) 0 -
Anoxia 0 -
Anterior Horn Cell Hypoplasia 0 -
Anti-Jo-1 syndrome 0 -
Antiphospholipid syndrome (Hughes syndrome) 11 G
Antithrombin Deficiency (Antithrombin III Deficiency) 0 -
Anxiety disorders (School Phobia) 69 G
Agoraphobia 4 -
Body Dysmorphic disorder 1 -
Phobias 3 -
Apnoea 6 -
Arboviral Encephalitis 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) 55 -
Arterial Calcification of Infancy (Occlusive Infantile Arteriopathy; Arteriopathy - Occlusive Infantile) 24 -
Arthritis (Enteropathic Arthritis; Lumbar Spondylosis) 10 -
Cervical Spondylosis 3 -
Gout 0 -
Pauci-articular Arthritis 1 -
Polumyalgica Rheumatica 0 -
Rheumatoid Arthritis 3 -
Secondary Arthritis 0 -
Arthritis (Juvenile Idiopathic) (Stills disease) 90 G
Enthestitis Related Arthritis 2 -
Juvenile Spondylitis 1 -
Monarticular Arthritis 0 -
Osteoarthritis 14 -
Polyarthritis 1 -
Polyarticular Arthritis 12 -
Arthrogryposis (Amyoplasia Congenita; Arthrogryposis Multiplex Congenita) 27 G
Arthrogryposis Renal Dysfunction and Cholestasis 1 -
Gordon syndrome 3 -
Asthma 91 G
Brittle Asthma 8 -
Ataxia (undefined) 11 -
Acute Cerebellar Ataxia (Zappert's syndrome) 4 -
Cerebellar Ataxia 15 -
Cerebral Ataxia (Idiopathic Cerebellar Ataxia) 4 -
Episodic Ataxia 2 -
Friedreich's Ataxia (Spinocerebellar Degeneration; Recessive spinocerebellar degeneration) 15 G
Recessive Spinocerebellar Degeneration 0 -
Spinal Cerebral Ataxia 0 -
Spinocerebellar Ataxia 3 -
Zappert's syndrome 0 -
Ataxia with Oculomotor Apraxia 4 -
Ataxia-Telangiectasia (Louis Bar syndrome) 2 G
Attention Deficit Hyperactivity disorder (AD(H)D; ADD; Attention Deficit disorder; ADHD; Hyperkinetic disorder) 474 G
Chatterbox syndrome 1 -
Minimal Brain Dysfunction 1 -
Auditory Memory Loss 5 -
Autistic Spectrum disorders including Aspergers syndrome (autism; aspergers syndrome; asperger; asd) 1105 G
Autoimmune disorders 4 -
Autoimmine Neutropenia 5 -
Autoimmune Enteropathy 0 -
Lambert-Eaton Myasthenia syndrome (LEMS) 0 -
Myasthenia Gravis 2 -
Autonomic Neuropathy 0 -
Acute Cholinergic Dysautonomia 1 -
Riley-day syndrome (Riley day) 1 -
Avascular Necrosis (Osteonecrosis) 5 -
Back Pain 4 -
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; ) 16 -
Barber-Say syndrome 1 -
Bardet-Biedl syndrome (Laurence-Moon-Bardet-Beidl syndrome; Adipogenital Retinitis Pigmentosa-Polydactyly) 17 G
Barre-Lieou syndrome 0 -
Bartsocas-papas syndrome (Popliteal Pterygium syndrome- Lethal Type) 0 -
Batten disease 5 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 1 -
Neuronal Ceroid Lipofuscinosis Type 3 (Juvenile) 1 -
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) 19 G
Behavioural Difficulties (Emotional Difficulties; Episodic Dyscontrol syndrome) 62 -
Behçet syndrome (Touraine Apthosis; Halushi-Behcet syndrome; Adamantiades-Behcets; Oculobuccogenital syndrome) 1 -
Behrs Hereditary Optic Atrophy (Behr syndrome) 0 -
Bells Palsy 0 -
Benign Essential Tremor (Essential Tremor) 2 -
Benign Hereditary Chorea (Benign Familial Chorea) 0 -
Benign Paroxysmal Positonal Vertigo 0 -
Benign Paroxysmal Torticollis in Infancy 24 -
Traumatic Birth 1 -
Bernard-Soulier syndrome 0 -
Birthmarks/Naevus (Naevus; Fragmented Mole; Congenital Giant Naevus) 3 G
Congenital Melanocytic Naevi 1 G
Melanocytic Naevus 0 -
Vascular Birthmarks 1 G
Bladder disease 1 -
Irritable Bladder (Urge Incontinence) 0 -
Vesico-ureteral Reflux 6 -
Bladder Exstrophy (exstrophy epispadias complex) 7 G
Cloacal Exstrophy 5 -
Ectopic Bladder 0 -
Ectopica Vesicae 0 -
Epispadias 1 -
Epispadias (Female) 0 -
Vesico Intestinal Fissure 0 -
Blood disorders 4 -
Anti K Antibodies 0 -
Eosinophilia 0 -
Essential Thrombocythemia 1 -
Factor II Deficiency 0 -
Factor V Leiden 5 -
Factor XI Deficiency 1 -
Glanzmann's Thrombasthenia (Thrombasthenia) 1 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 2 -
Polycythemia 0 -
Polycythemia Vera 1 -
Protein C Deficiency 0 -
Protein S Deficiency 2 -
Rhesus Incompatibility (Haemolytic disease of the Newborn) 0 -
Thrombocythemia 0 -
Thrombocytopenia 3 -
Thrombocytosis 0 -
Thrombophilia 1 -
Bloom syndrome (Bloom-Torre-Mackacek) 2 -
Blount Barber syndrome (Blounts disease; Tibia vara) 7 -
Bone disorders 2 -
Fibrous Dysplasia 6 -
Osteofibrous Dysplasia 4 -
Osteopenia 0 -
Skeletal Dysplasias 10 -
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) 4 -
Brain disorders (inc Head Injury) 11 -
Benign Intracranial Hypertension (Pseudotumour Cerebri; Idiopathic Intracranial Hypertension) 24 -
Brain Aneurysm 3 -
Brain Cysts (Arachnoid Cysts; Periventricular Cysts) 5 -
Brain Damage/Injury (acquired and congenital) 50 -
Brain Stem Atrophy 3 -
Cavum Septum Pellucidum 0 -
Cerebellar Mutism 1 -
Cerebral Aneurysm 0 -
Cerebral Hernia 0 -
Cerebral Hypertension 1 -
Cerebral Hypotension 0 -
Cerebral Infarct 3 -
Cerebral Malacoplakia 0 -
Cleft Split of Cerebellum 0 -
Head Injuries 10 G
Hypopthalamic Dysfunction 2 -
Hypoxic Brain Damage 11 -
Organic Brain Dysfunction 1 -
Pallidol Degeneration 0 -
Pontine Tegmental Cap Dysplasia (PTCD) 0 -
Vein of Galen Malformation 5 G
Ventriculomegaly 13 -
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) 4 -
Breath Holding 3 -
Brittle Bone diseases (Osteogenesis Imperfecta) 21 G
Dentinogenesis Imperfecta 2 -
Osteogenesis Imperfecta 10 -
Sacrococcygeal Teratoma 2 -
Brody disease (Brody Myopathy) 0 -
Broncho Pulmonary Dysplasia (BPD) 3 G
Brown-Vialetto-Van-Laere syndrome 4 -
Buerger disease (Occlusive Peripheral Vascular disease; Thromboangiitis Obliterans) 0 -
Bulbar Palsy 20 -
Bullous Pemphigoid 2 -
Burning Mouth syndrome 0 -
Burns (Scalds) 4 -
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 -
Camptodactyly 0 -
Camptomelic Dysplasia (Campomelic Dysplasia) 0 -
Camurati Englemann syndrome (Englemann syndrome; Progressive Diaphyseal Dysplasia) 2 -
Cancer 5 G
Asbestosis 0 -
Branchial Cleft Carcinoma 0 -
Cervical Cancer 0 -
Cylindroma (Adenoid Cystic Carcinoma) 0 -
Ependymoma Tumour 0 -
Ewing's Sarcoma 2 -
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) 14 -
Cardiomyopathies (HCM; Dilated Cardiomyopathy; Hypertrophic Cardiomyopathy) 10 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) 2 -
Carpal Tunnel syndrome 0 -
Castleman disease 0 -
Cat Eye syndrome 2 -
Catel-Manzke syndrome (Pierre Robin syndrome with Hyperphalangy & Clinodactyly) 7 -
Caudal Regression syndrome (Mermaid syndrome; Caudal Dysplasia; Caudal Dysgenesis) 13 -
Cavernous Haemangioma (Cavernoma) 2 -
Cellulitis 0 -
Central Auditory Processing disorder 20 -
Cephalic disorders (Acephaly; Colpocephaly; Exencephaly; Micrencephaly; Octocephaly; Iniencephaly) 1 -
Megalencephaly (Macrencephaly) 4 -
Schizencephaly 21 -
Cerebral Atrophy 10 -
Cerebral Palsy 369 G
Cerebrocostomandibular syndrome (Smith-Theiler-Schachenmann syndrome; CCM syndrome; CCMS; Rib Gap Defects with Micrognathia) 12 -
Channelopathies 0 -
Charcot-Marie-Tooth disease (Motor & Sensory Neuropathy; Hereditary Motor & Sensory Neuropathy; Peroneal Muscular Dystrophy; Peroneal Muscular Atrophy; CMT; Congenital Axonal Neuropathy) 34 G
Dejerine Sottas disease (Progressive Hypertropic Interstitial Polyneuropathy) 2 -
CHARGE Association ("Colomba; Heart Defect; Atresia Choanae; Restricted Growth and Development; Genital Hypoplasia; Ear Anomalies") 24 G
Cherubism (Fibrous Jaw Dysplasia) 3 -
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) 2 -
Chondromalacia Patellae 1 -
Chorioretinopathy and Pituitary Dysfunction (CPD syndrome) 0 -
Choroid Plexus Cysts 2 -
Chromosome disorders 25 G
Chromosome 1 disorder 22 G
Chromosome 10 disorder 20 G
Chromosome 11 disorder 3 G
Chromosome 12 disorder 30 G
Chromosome 13 disorder 1 G
Chromosome 14 disorder 16 G
Chromosome 15 disorder 25 G
Chromosome 16 disorder 24 G
Chromosome 17 disorder 23 G
Chromosome 19 disorder 6 G
Chromosome 2 disorder 12 G
Chromosome 20 disorder 3 G
Chromosome 21 disorder 3 G
Chromosome 22 disorder 7 G
Chromosome 3 disorder 5 G
Chromosome 4 disorder 5 G
Chromosome 5 disorder 11 G
Chromosome 6 disorder 8 G
Chromosome 7 disorder 5 G
Chromosome 8 disorder (Chromosome disorders) 22 G
Chromosome 9 disorder 6 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 ) 9 -
De Grouchy syndrome II (18q- syndrome; 18q deletion syndrome; chromosome 18q; del(18q) syndrome; deletion 18q syndrome; monosomy 18q; partial monosomy 18q ) 13 -
De La Chappelle syndrome (XX Male syndrome) 0 -
isodicentric 15 (idic(15)) 20 -
Kleefstra syndrome (9q34 deletion syndrome ) 4 -
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.) 2 -
Monosomy 1p36 deletion syndrome 39 -
Mosaic Variegated Aneuploidy 0 -
Penta X syndrome (XXXXX syndrome) 1 -
Ring Chromosome 18 1 -
Ring G Monosomy 1 -
Ring X 0 -
Tetrasomy 18p (18p Isochromosome; 18p Tetrasomy) 2 -
Translocations 7 -
Triploidy 3 -
Trisomy 14 Mosaic (Trisomy 14; Mosaic Trisomy 14; Trisomy 14 Mosaicism syndrome) 1 -
Uniparental Disomy 1 -
Xq28 Duplication (MECP2 Duplication syndrome) 0 -
XYY syndrome (Jacob's syndrome) 36 G
Chronic Advancing Peripheral Axonal Neuropathy 0 -
Chronic Bullous disease of Childhood (Linear IgA Dermatosis; LAD; Chronic Bullous Dermatitis of Childhood) 7 -
Chronic Eustacian Tube Dysfunction 0 -
Chronic Functional Abdominal Pain 1 -
Chronic Infantile Neurological Cutaneous Articular (CINCA; Neonatal Multisystem Inflammatory disease; NOMID) 0 -
Chronic Pain syndrome 30 -
Chronic Partial Denervation 0 -
Chronic Progressive External Ophthalmoplegia 0 -
Cleft Lip and/or Palate (Cleft Mandible) 32 G
Cleidocranial Dysplasia (Marie Sainton syndrome; Cleidocranial Dysostosis) 53 -
Cochlear Implants 1 -
Cockayne syndrome (Cockayne Neills Dwarfism) 3 -
Coeliac disease (Sprue syndrome; Gluten Enteropathy) 12 G
Dermatitis Herpetiformis 0 -
Coffin-Lowry syndrome 9 -
Coffin-Siris syndrome (Dwarfism-onychodysplasia; Fifth Digit syndrome) 31 -
Cogan's Dystrophy (Cogan's syndrome III) 0 -
Cogan's I syndrome (Keratitis-Deafness) 1 -
Cohen syndrome 5 G
Colitis (Lymphocytic Colitis) 4 -
Coma (Persistent Vegetative State) 0 -
Condylar Hyperplasia 0 -
Congenital Absence of the Testes (Anorchidism; Absence of Testes) 3 G
Anorchia (Acquired) 0 -
Anorchidism 5 -
Congenital Adrenal Hypoplasia 3 -
Congenital Bilateral Perisylvian syndrome 41 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) 33 -
Congenital Insensitivity to Pain 25 -
Congenital Lymphoedema (Primary Lymphoedema) 1 -
Congenital Myasthenia (Congenital Myasthenic syndrome) 8 -
Congenital Myotonic Dystrophy (Steinert syndrome) 30 -
Congenital Ocular Motor Apraxia (Oculomotor Apraxia; Saccade initiation; Cogan's apraxia ) 46 G
Conn syndrome 0 -
Connective Tissue disorders 3 -
Cutis Laxa (elastolysis) 2 -
Mixed Connective Tissue disease 0 -
Undifferentiated Connective Tissue disease 0 -
Conradi-Hunermann syndrome (Chondrodysplasia Punctata (Rhizomelic Type); Rhizomelic Chondrodysplasia Punctata) 29 -
Conversion disorder 0 -
Cornelia De Lange syndrome (Status Degenerativus Typus Amstelodamensis; Amsterdam Dwarfism; Brachman de Lange; Status Degenerativus Typus Amstelodamensis; De Lange I syndrome) 21 G
Cortical Dysplasia 6 -
Focal Cortical Dysplasia 0 -
Costello syndrome 1 G
Costochondritis 2 -
Cot Death 2 G
Craniodiaphyseal Dysplasia 0 -
Craniofacial Conditions 17 G
Acrocephaloplysyndactyly 0 -
Acrocephalosyndactyly 0 -
Acrocephalosyndactyly II 0 -
Acrocephalosyndactyly III 0 -
Acrocephalosyndactyly VI 0 -
Antley Bixler syndrome 0 -
Apert syndrome 9 -
Bicoronal Synostosis 3 -
Brachycephaly (Bicoronal Synostosis) 2 -
C-Trigonocephaly (Opitz Trigonocephaly syndrome; C syndrome; Trigonocephaly syndrome) 1 -
Carpenter syndrome 6 -
Cloverleaf syndrome (Kleeblattschsedel syndrome; Cloverleaf skull) 0 -
Craniofacial Cleft (Tessier Scale) 2 -
Craniofrontonasal Dysplasia (Craniofrontal Dysostosis) 3 -
Craniostenosis 6 -
Craniosynostosis 55 -
Crouzon syndrome 9 -
Frontal Bone Protrusion 1 -
Frontonasal Dysplasia (Median Cleft Face syndrome; de Meyer syndrome) 6 -
Oxycephaly (Turricephaly) 0 -
Pfeiffer syndrome 8 -
Plagiocephaly 11 -
Proboscis Lateralis 0 -
Saethre-Chotzen syndrome 7 -
Scaphocephaly 4 -
Trigonocephaly 9 -
Craniometaphyseal Dysplasia 0 -
Cri du Chat syndrome (Chromosome 5p; Lejeune syndrome) 25 G
Crohn's disease (Colitis) 3 G
Cronkite-Canada syndrome 0 -
Crosslaterality 0 -
Cryoglobulinaemia 0 -
Currarino syndrome (Currarino Triad) 31 -
Curry-Jones syndrome 0 -
Cutis Marmorata Telangiectatica Congenita (Macrocephaly; Cutis Marmorata Telangiectatica Congenita) 18 -
Cyclical Vomiting 22 G
Cystic Adenomatoid Malformation Type I (CAM I) 0 -
Cystic Angiomatosis 0 -
Cystic Fibrosis (Cystic Fibrosis) 29 G
Cytomegalovirus (CMV) 21 G
DAMP (Deficits in Attention; Motor control and Perception) 15 -
Dancing Eye syndrome (Opsoclonus-myoclonus; Kinsbourine syndrome; Myoclonic Encephalopathy) 4 G
Dandy Walker syndrome 48 -
De Barsy syndrome 3 -
Deaf Blind/Rubella Damaged (Congenital Rubella syndrome; Rubella) 4 G
Deafblindness 6 -
Deafness 64 G
Auditory Neuropathy 14 -
Enlarged Vestibular Aqueduct syndrome 1 -
Glue Ear 5 -
Otosclerosis 0 -
Pendred syndrome 7 -
Degos disease (Kohlmeier-Degos disease; Degos-Kohlmeier disease; Malignant Atrophic Papulosis) 0 G
Dementia in Children and Young People 1 -
Alzheimer's disease 1 -
Binswanger disease 0 -
Cerebral Autosomal Dominant Arteriopathy with Subc (CADASIL) 8 -
Corticobasal Degeneration 4 -
Dementia 0 -
Frontotemporal Dementia (Pick's disease) 0 -
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 2 -
Dentatorubral-pallidoluysian Atrophy (DRPLA) 0 -
Dercum disease 4 -
Dermatomyositis and Polymyositis (Juvenile Dermatomyositis) 3 G
Desbuquois syndrome (Desbuquois Dysplasia; Micromelic Dwarfism with Vertebral and Metaphyseal Abnormalities and Advanced Carpotarsal Ossification) 2 -
Desquamative Interstitial Pneumenitis (Interstitial Pneumonitis) 0 -
Developmental Motor Co-ordination disorder 15 -
Devic disease (Neuromyelitis Optica) 2 -
Diabetes Mellitus 33 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) 10 G
Diaphragmatic Hernia (Congenital Diaphragmatic Hernia) 19 G
Diastasis Symphysis Pubis (Symphysis Pubic Dysfunction) 8 -
Diastematomyelia 5 -
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 5 -
Door syndrome 0 -
Down's syndrome (Trisomy 21; Chromosome 21 Trisomy; downs) 154 G
Mosaic Down's syndrome 4 -
Down's syndrome with Heart Defect (downs with heart defect) 36 G
Drugs (adverse reactions) (Tetracyclene (adverse reaction)) 0 -
Drusen disease 0 -
Duane Retraction syndrome (Duane syndrome; DRS) 16 -
Dubowitz syndrome 6 -
Duchenne Muscular Dystrophy (dmd) 48 G
Dyggve-Melchior-Clausen syndrome 3 -
Dyke Davidoff-Masson syndrome (Cerebral Hemiatrophy; DDM) 0 -
Dyscalculia 12 -
Dysequilibrium syndrome (Cerebellar disorder; Nonprogressive; with Mental Retardation) 2 -
Dysgraphia 3 -
Dyskeratosis Congenita 10 G
Dyslexia 73 G
Dysosteosclerosis 0 -
Dysphasia 0 -
Dysplasia Epiphysealis Hemimelica (Trevor disease) 0 -
Dyspraxia (Motor Learning Difficulty; Clumsy Child syndrome; Bilateral Integration) 237 G
Dystonia 19 G
Abdominal Wall Dystonia 0 -
Belly Dancer Diskinesia 0 -
Benign Paroxysmal Torticollis 18 -
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 5 -
Spasmodic Torticollis 3 -
Torsion Dystonia 0 -
Torticollis 5 -
Eagle syndrome 0 -
Ear Nose and Throat disorders 0 -
Choanal Atresia 7 -
Cholesteatoma 2 -
Labyrinthitis 0 -
Otitis Media 0 -
Psychogenic Cough 0 -
Sinusitis (Concha Bullosa) 3 -
Eating disorders 6 G
Anorexia Nervosa 3 -
Bulimia Nervosa 1 -
Ectodermal Dysplasia (Walker-Clodius syndrome; EEC syndrome) 9 G
Anhidrotic Ectodermal Dysplasia 0 -
Ectodermal Dysplasia syndrome 1 -
Ectrodactyly; Ectodermal Dysplasia; Cleft Lip & Palate syndrome 5 -
Hidrotic Ectodermal Dysplasia 0 -
Hydrohidrotic Ectodermal Dysplasia 5 -
Pachyonichia Congenita 0 -
Rapp Hodgkins 0 -
Tooth and Nail syndrome 0 -
Trichorhinophalangeal syndrome Type 1 8 -
X-linked Hypohidrotic Ectodermal Dysplasia 0 -
Eczema (Ectopic Eczema) 16 G
Atopic Eczema 14 -
Edward's syndrome (Trisomy 18; Chromosome 18 Trisomy (18 + syndrome)) 43 G
Ehlers-Danlos syndrome (Cutis Hyperelastica; Arthrochalasis-Multiplex Congenita; EDS) 67 G
Elliptocytosis 0 -
Ellis-Van Crevald syndrome (Chondroectodermal Dysplasia) 1 G
Encephalitis (Viral Encephalitis) 20 G
Acute Disseminated Encephalomyelitis (ADEM) 23 G
Hashimoto Encephalitis 10 -
Herpes Simplex Encephalitis (HSE) 7 -
Meningoencephalomyelitis 1 -
Mycoplasm Encephalitis 2 -
Rasmussens Encephalitis 18 G
Encephalocraniocutaneous Lipomatosis 1 -
Endocardial Fibroelastosis 2 -
Endometriosis 6 -
Enterovirus (Non-polio Enterovirus) 1 -
Eosinophilic Gastrointestinal disorders (Eosinophil-associated Gastrointestinal disorders) 0 -
Eosinophilic Colitis 23 -
Eosinophilic Gastritis 1 -
Eosinophilic Gastroenteritis 4 -
Eosinophilic Oesophagitis (Eosinophilic Esophagitis) 1 -
Epidermal Naevus syndrome (Epidermal Nevus syndrome; Linear Nevus Sebaceous syndrome; Linear Naevus Sebaceous syndrome) 2 -
Epidermolysis Bullosa (EB Simplex) 3 G
Dystrophic EB 3 -
Junctional Epidermolysis Bullosa (Junctional EB) 0 -
Epiglottitis (Supraglottisis) 0 -
Epilepsy 301 G
Abdominal Epilepsy (Stomach Epilepsy) 1 -
Action Myoclonus Renal syndrome (Action Myoclonus-renal syndrome; Action Myoclonus Renal Failure syndrome; AMRF; Myoclonus-nephropathy syndrome) 1 -
Benign Epilepsy of Childhood with Occipital Paroxysms (BECOP) 0 -
Benign Myoclonic Epilepsy 0 -
Benign Neonatal Familial Convulsions 2 -
Benign Paroxysmal Tonic Upward Gaze 6 -
Dravet syndrome 32 -
Electrical Status Epilepticus of Slow Wave Sleep (ESES) 6 -
Eyelid Myoclonia with Absences (EMA; Jeavons syndrome) 0 -
Gelastic Epilepsy 2 -
Hypsarrhythmia 1 -
Jacksonian Seizures 0 -
Ketogenic Diet 1 -
Myoclonic Astatic Epilepsy (Doose syndrome) 10 -
Myoclonic Epilepsy 29 -
Ohtahara syndrome (Early Infantile Epileptic Encephalopathy; EIEE) 39 G
Panayiotopoulos syndrome (early-onset benign partial epilepsy with occipital paroxysms) 10 -
Ramsay Hunt syndrome (Baltic Myoclonus; Unverricht-Lundborg syndrome; Unverricht-Lundborg disease; Unverricht Lundborg) 0 -
Rolandic Epilepsy 2 -
Severe Infantile Myoclonic Epilepsy 17 -
Temporal Lobe Epilepsy 16 -
Todd's Paralysis 3 -
Epstein Barr Virus 0 -
Erb's Palsy (Klumpke's Paralysis; Brachial Plexus paralysis) 9 G
Erythromelalgia 4 -
Evans syndrome 6 -
Executive Function disorder 0 -
Extrapyramidal disorder 1 -
Eye conditions 0 -
Blepharitis with Chalazia (Blepharitis with Meibomian Cyst.) 1 -
Facial Disfigurement (Facial Palsy) 5 G
Facioscapulohumeral Muscular Dystyrophy (Facioscapuloperoneal Muscular Dystrophy; Landouzy-Dejerine) 1 G
Failure to Thrive 27 -
Familial Dysautonomia 1 G
Familial Hyperlipidaemia (Familial Hypercholesterolaemia; Familial Hypertriglyceridaemia; FCH; Hyperlipidaemia; Familial Combined Hyperlipidaemia) 0 -
Familial Mediterranean Fever (Siegal-Cattan-Mamou syndrome) 2 -
Familial Spastic Paraplegia (Struempel disease; Hereditary Spastic Paraplegia; Spastic Diplegia; Spastic Paraparesis; Spastic Paraplegia) 10 G
Fanconi's Anaemia (Aplastic Anaemia - Congenital; Congenital Aplastic Anaemia) 8 G
Fatal Familial Insomnia 0 -
Fatty Acid Oxidation disorders 0 G
Fazio-Londe syndrome (Progressive Bulbar Paralysis) 3 -
Febrile Convulsions 2 -
Feingold syndrome (Microcephaly-mesobrachyphalangy-tracheoesophageal Fistula syndrome; Microcephaly-oculo-digito-esophageal-duodenal syndrome; Oculo-digito-esophagoduodental syndrome; MMT; MODED; ODED) 0 -
Femur-Fibula-Ulna syndrome 0 -
Fetal Abnormalities 0 G
Benzodiazepines in Pregnancy 0 -
Fetal Alcohol Spectrum disorders (Foetal Alcohol Spectrum disorders; Fetal Alcohol syndrome; Foetal Alcohol syndrome; Fetal Alcohol Effects; Foetal Alcohol Effects) 44 G
Fetal Anti-Convulsant syndrome (Fetal Phenytoin syndrome; Fetal Hydrotoin syndrome; Phenytoin syndrome; Sodium Valporate syndrome) 52 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 28 -
Fibrosing Alveolitis 0 -
Filipi syndrome 0 -
Filippi syndrome 0 -
Fine Lubinsky syndrome 0 -
Finlay-Marks syndrome 3 -
Floating-Harbor syndrome 10 G
Forestier's disease (Diffuse Ideopathic Skeletal Hyperostosis) 0 -
Fragile X syndrome (Fraxe syndrome) 53 G
Frank-Ter Haar syndrome (Ter Haar syndrome; FTHS) 0 -
Fraser syndrome (Cryptothalmus Syndactylly) 1 -
Freeman Sheldon syndrome 6 G
Frontometaphyseal Dysplasia 6 -
Fryns syndrome 8 -
Gait Apraxia 0 -
Galactosaemia 4 G
Gall Bladder Problems (Cholecystectomy) 0 -
Galloway syndrome 0 -
Gangrene 0 -
Gardner's syndrome (Familial Adenomatous Polyposis; Polyposis coli) 7 -
Gastric disorders 1 -
Gastroenteropathy 0 -
Reflux Oesophagitis (Barrett's Oesophagus) 1 -
Gastrostomy 43 -
Gaucher disease (Familial splenic anaemia; Cerobroside Lipidosis) 2 G
Geleophysic Dysplasia 3 -
Gender Identity Problems 3 -
Genetic condition 6 -
Baraitser Winter syndrome (BRWS; cerebro-frontofacial syndrome; type3; Fryns-Aftimos syndromeiris coloboma with ptosis; hypertelorism; and mental retardation) 1 -
CDKL5 (Mutation of cyclin-dependent kinase-like 5; CDK L5) 3 -
Cerebroretinal Microangiopathy with Calcifications and Cysts (Coats Plus Syndrome; CRMCC) 2 -
COL4A1-related disorders (COL4A1 disorders; COL4A1 mutations) 4 -
Fitzsimmons syndrome (Fitzsimmons-Guilbert syndrome; Mental Retardation-spastic Paraplegia-palmoplantar Hyperkeratosis syndrome) 0 -
Myhre syndrome (Growth-Mental Deficiency syndrome of Myhre) 0 -
Genitopatellar syndrome 0 -
Geographic Tongue 1 -
Geroderma Osteodysplastica (Bamatter) 3 -
Gerstmann syndrome 0 -
Gianotti-Crosti syndrome 0 -
Gillespie syndrome 13 -
Glycogen Storage disease (Tarui Type VII Glycogenesis; Von Gierke) 1 G
Cori Type III Glycogenosis 1 -
McArdle disease 0 -
Pompe disease 2 -
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) 33 G
Goltz syndrome (Focal Dermal Hypoplasia) 30 -
Gonadal Dysgenesis XX Type 0 -
Gorham syndrome 1 -
Gorlin syndrome (Basal Cell Naevus syndrome) 7 G
Greig syndrome (Optic Hypertelorism) 0 -
Griscelli syndrome 1 -
Group A Streptococcus 0 -
Group B Streptococcus 1 G
Growth disorders 8 -
Gigantism 1 -
Premature Sexual Maturation (Precocious Puberty) 6 G
Silver-Russell syndrome (Asymmetry Dwarfism; Russell-Silver syndrome; Silver's; Russell; Silver) 34 G
Sotos syndrome (Cerebral Gigantism in Childhood) 53 -
Growth Hormone Deficiency (Multipituitary Hormone Deficiency) 25 G
Guillain-Barré syndrome (Chronic / Acute Inflammatory Polyneuropathy; Guillain Barre syndrome) 1 G
Acute Inflammatory Polyneuropathy 1 -
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 4 -
Gastro-oesophageal Reflux 84 -
Gastroparesis (Delayed gastric emptying) 0 -
Hirschsprung disease 59 -
Hollow Visceral Myopathy 12 -
Hypogangliosis 0 -
Intestinal Pseudo Obstruction 2 -
Megacystis-microcolon-intestinal Hypoperistalis Sy 7 -
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 2 -
Rectal Prolapse 0 -
Gynecomastia 1 -
Haemangioma (Optic Nerve Haemangioma; Kasabach-Merrit syndrome; Haemangio-endothelioma; Haemangio Lymphantioma; Cavernous Haemangioma) 2 -
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) 4 G
Christmas disease 1 -
Haemophilia A 4 -
Von Willebrand disease 5 -
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 3 -
Heart Defects 62 G
Andersen-Tawil syndrome (Andersen Cardiodysrhythmic Periodic Paralysis, Andersen syndrome, ATS) 1 -
Angina 0 -
Aortic-Left Ventricular Tunnel (Aorto Left Ventricular Tunnel; ALVT; aortico-left ventricular tunnel) 1 -
Arrhythmia 0 -
Arterial Tortuosity syndrome 0 -
Atrial Septal Defect 12 -
Barlow syndrome 0 -
Bicuspid Aortic Valve disorder (BAVD) 3 -
Brugada syndrome 1 -
Coarctation of the Aorta 7 -
Diverticulum of the Left Ventrical 0 -
Dressler syndrome 0 -
Ebstein Anomaly 4 -
Eisenmenger Complex 1 -
Fallot's Tetralogy (Tetralogy of Fallot) 30 -
LGL 0 -
Long QT syndrome (Jervell-Lange-Nielsen syndrome; Romano-Ward syndrome) 7 G
Lown-Ganong-Levene syndrome 0 -
Mitral Valve Prolapse syndrome (Barlow syndrome) 1 -
Mitral Valve Stenosis 0 -
Myocarditis 0 -
Pulmonary Stenosis 10 -
Pulmonary Vein Stenosis 1 -
Purkinje Cell Hamartoma (Histiocytoid Cardiomyopathy) 0 -
Shone syndrome 0 -
Single Ventricle Cardiac disorders 0 -
Sub Aortic Stenosis 3 -
Transposition of the Great Arteries (TGA; Complete Transposition of the Great Arteries; d-TGA; Simple Transposition; Ventriculoarterial Discordance) 0 -
Trilogy of Fallot 1 -
Truncus Arteriosus 4 -
Ventricular Septal Defect (VSD) 5 -
Hecht syndrome 0 -
Hemihypertrophy 27 -
Hemimegalencephaly (Linear Nevus Sebaceous syndrome; HME) 16 -
Hemiparesis 4 -
Hemiplegia 66 G
Hennekam syndrome 1 -
Henoch Schonlein Purpura (HSP; Henoch-Schonlein Purpura) 57 G
Hereditary Haemorrhagic Telangiectasia (Telangiectasia; Haemorrhagic Telangectasia; HHT; Rendu-Osler-Weber syndrome; Osler-Rendu-Weber syndrome) 5 G
Hereditary Multiple Exostoses 20 -
Hermaphroditism 0 -
Hernias (Diaphragmatic Hernia + Blockage; Rectus Abdominus Hernia) 2 -
Herpes Simplex Virus 1 -
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 1 -
Langerhan's Cell Histiocytosis 7 -
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) 52 -
Holt-Oram syndrome (Atriodigital dysplasia) 24 -
Hopkins syndrome 1 -
Horner syndrome 1 -
Hoyeraal-Hreidarsson syndrome 3 -
HTLV-1 associated Myelopathy (Jamaican Myelopathy; HAN-TSP; Tropical Spastic Paraparesis) 0 -
Huntington's disease (Huntington's Chorea) 3 G
Hydatidiform Mole 0 -
Hydranencephaly 3 G
Hydroa Vaccininforme 0 -
Hydrocephalus (Normal Pressure Hydrocephalus (adult onset)) 118 -
Hydromyelia 0 -
Hydronephrosis 12 -
Hyperactivity (Hyperkinetic disorder; Hyperkinesis) 5 -
Hyperacusis 3 -
Hyperekplexia (Startle disease/syndrome; Stiff Baby syndrome) 18 G
Hyperhidrosis 1 -
Hypermobility syndrome (Hyperlaxity syndrome) 180 G
Hypertension 5 -
Hypoglycaemia (Non-diabetic) 4 -
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) 22 G
Hypomyelination with Atrophy of the Basal Ganglia and Cerebellum (H-ABC syndrome) 1 -
Hypospadias 20 G
Hyposperda 0 -
Hypotonia (Benign Congenital Hypotonia; Amyotonia Congenita) 150 G
Ichthyosis 6 G
Bullouos Ichthyosiform Erythroderma 2 -
Bullous Ichthyosis 0 -
Collodian Baby 0 -
Harlequin Ichthyosis 1 -
Ichthyosis Erythroderma 1 -
Ichthyosis Lamellar 2 -
Ichthyosis Vulgaris 1 -
Netherton syndrome 9 -
Non- Bullouos Ichthyosiform Erythroderma 1 -
Non-Bullous Ichthyosiform Erythroderma 1 -
Sjögren Larsson syndrome (Sjogren Larsson syndrome) 3 -
Trichothiodystophy (TTD; Tay syndrome; Amish Brittle Hair syndrome; BIDS syndrome; Brittle hair-intellectual impairment-decreased fertility-short Stature syndrome; IBIDS; PIBIDS; Trichothiodystrophy with Congenital Ichthyosis) 1 -
X-linked Ichthyosis 3 -
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) 1 -
Immune disorders 5 -
APECED syndrome 8 -
Autoimmune Inflammatory disease 0 -
Autoimmune Polyendocrinopathy-Candidiasis-Ectoderm 4 -
Autoimmune Proliferative syndrome 1 -
AutoimmuneVasculitis with Cryoglobulinaemia 0 -
Incontinence (Urge Incontinence; Encopresis; Detrusor Instability; Enuresis) 10 -
Incontinentia Pigmenti (Block-Sulzberger syndrome) 25 -
Infantile Systemic Hyalinosis 0 -
Intestinal Conditions (Protein leakage from Bowel; Neurogenic Bladder) 10 -
Anal Atresia 6 -
Anal Stenosis 6 -
Anterior Anus with Vestibular Fistula 6 -
Brown Bowel syndrome 0 -
Chronic Gastritis 3 -
Colostomy 10 -
Fowler syndrome (Idiopathic voiding dysfunction and retention) 0 -
Ileostomy 3 -
Imperforate Anus 78 -
Intestinal Atresia 0 -
Jejeunal Atresia 0 -
Lymphoid Nodular Hyperplasia 0 -
Neurointestinal Dysplasia 1 -
Neuronal Dysplasia 0 -
Non Functional Bowel 9 -
Organo-Axial Malrotation of the Stomach 1 -
Stomas 7 -
Intestinal Lymphangiectasia 14 -
Intra Cerebral Whipples disease 0 -
Intussuception 0 -
Ion Channel disorder (Calcium Ion Channel disorder) 0 -
Irritable Bowel syndrome 15 G
Isaac syndrome (Neuromyotonia; Myokymia) 6 -
Ivemark syndrome (Congenital Absence of Spleen; Right Atrial Isomersism) 2 G
Jacobs syndrome (Arthropathy-Campodactyly syndrome) 3 -
Jacobsen syndrome (11q- syndrome ) 31 -
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 17 -
Joubert syndrome (Familial Cerebellar Vermis Agenesis) 30 -
Juvenile Hyaline Fibromatosis (Systemic Juvenile Hyalinosis) 2 -
Juvenile Osteoporosis (Osteoporosis) 6 G
Juvenile Respiratory / Laryngeal Papilomatosis (Papilloma) 4 -
Juvenile Retinoschisis 2 -
Kabuki syndrome (Kabuki-Make Up syndrome) 62 G
Kapur-Toriello syndrome 0 -
Kaufman Oculocerebral Facial syndrome (Kaufman syndrome) 0 -
Kaufman-Mckusick syndrome 0 -
Kawasaki disease (Mucocutaneous Lymph Node syndrome) 4 G
KBG syndrome 12 -
Kernicterus (Bilirubin Encephalopathy) 4 -
KID syndrome (Keratitis-Ichthyosis-Deafness) 0 -
Kidney disease 15 G
Angiomyolipoma 0 -
Autosomal Recessive Kidney disease 0 G
Bright's disease (Acute Glomerulonephritis) 0 -
Chloride Shunt syndrome (Gordon syndrome; Pseudohypoaldosteronism) 1 -
Chronic Glomerulonephritis 0 -
Congenital Horseshoe Kidney 2 -
Dent's disease 0 -
Drash syndrome (Denys-Drash syndrome) 1 -
Focal segmental Glomerulosclerosis 5 -
Gitelman syndrome 8 -
Goodpasture syndrome (Ceelen-Cellerstedt syndrome) 0 -
Haematuria 1 -
IgA Nephropathy (Berger syndrome) 1 -
Juvenile Bnephronophthisis 0 -
Juvenile Nephronophthisis 2 -
Kidney Dysplasia 5 -
Liddle syndrome 0 -
Medullary Sponge Kidney 0 -
Mesangiocapillary Glomerulonephritis 0 -
Multicystic Dysplastic Kidney 11 -
Nephrocalcinosis 2 -
Nephrotic syndrome (Nephrosis) 32 G
Potter syndrome (Oligohydramnios) 2 G
Renal Dysplasia 4 -
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 -
Kleine-Levin syndrome 4 -
Klinefelter syndrome (XXXXY syndrome; XXY syndrome) 46 G
Klippel-Feil syndrome (Congenital Osseous-torticollis; MURCS Associations; Brevicollis; Congenital Cervico-thoracic Vertebrae Synostosis) 64 -
Klippel-Trenaunay syndrome (Parkes-Weber syndrome; Angio Osteohypertrophy) 22 -
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 7 -
Landau-Kleffner syndrome 17 G
Langer Mesomelic Dysplasia 4 -
Langer-Giedion syndrome (Trichorhinophalangeal syndrome Type 2) 11 -
Larsen syndrome 14 -
Laryngeal Cleft (Laryngotracheoesophageal Cleft) 13 -
Laryngeal Web 3 -
Lazy Leucocyte syndrome 0 -
Learning Disability 130 G
Developmental Delay 240 -
Global Developmental Delay 464 -
Mental Handicap 4 -
Leber's Congenital Amaurosis (Leber Amaurosis) 31 G
Leber's Optic Neuropathy (Leber's Optic Atrophy; Leber Hereditary Optic Atrophy; Leber Optic Atrophy) 3 -
Leiner syndrome (Erythroderma Desquamatirum) 0 -
Lennox-Gastaut syndrome 41 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 7 -
Lichen Planus (Hallopeau's 1) 0 -
Lichen Sclerosus (Balanitis Xerotica Obliterans; BXO; Vulval lichen sclerosus) 0 -
Limb Abnormalities 6 -
Amputation 4 -
Congenital Macrodactyly 33 -
Lower Limb Abnormalities (Hip Dysplasia; Multiple Epiphyseal; Dysplasia) 17 G
Upper Limb Abnormalities 11 G
Lissencephaly (ILS) 33 G
Agyria 0 -
Cerebro-Oculo-Muscular Dystrophy 0 -
Fukuyama Congenital Muscular Dystrophy 0 -
Heterotopia 9 -
Isolated Lissencephaly Sequence 1 -
Isotretinoin Embryopathy 0 -
Microgyria 0 -
Miller Dieker syndrome 4 -
Muscle Eye Brain disease (MEB; Santavuori's syndrome) 0 -
Norman Roberts syndrome 3 -
Polymicrogyria 48 -
Walker-Warburg syndrome 1 -
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) 3 -
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) 1 -
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) 5 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) 10 G
Alpha 1 - Antitrypsin Deficiency (Adult) 0 G
Alveolar Capillary Dysplasia 0 -
Bronchial Malacia 7 -
Bronchiectasis 4 -
Bronchiolitis Obliterans 4 -
Chronic Eosinophilic Pneumonia 0 -
Chronic Obstructive Pulmonary disease (COPD) 3 -
Congenital Cystic Adenomatoid Malformation (CCAM) 27 -
Congenital Lobar Emphysema 9 -
Congenital Pulmonary Lymphangiectasia (Pulmonary Lymphangiectasia) 5 -
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 7 -
Tuberculosis 0 -
Lupus (SLE; Systemic Lupus Erythematosis) 10 G
Lyme disease 0 -
Lymophoedema (Nonne-Milroy-Meige syndrome; Milroy's) 4 G
Lymphangioma (Lymphangioma of Abdomen; Lymphangioma of Tongue) 12 -
Lymphangiomatosis of the Bone 8 -
Lymphatic Malformation (Cystic Hygroma) 35 G
Lymphoedema Microcephaly and Chorioretinopathy 1 -
Lymphoma 0 -
Cystic Lymphoma 1 -
Hodgkin's disease (NHL) 0 -
Non-Hodgkin's Lymphoma 1 -
Subcutaneous T-cell Lymphoma 0 -
Macrocephaly (Benign Familial Macrocephaly; Familial Macrocephaly) 8 -
Macrocephaly - Cutis Marmorata Telangiectatica Congenita (M-CMTC) 27 G
Madelungs Deformity 17 -
Maffucci syndrome 4 -
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 13 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) 33 -
Meckel-Gruber syndrome (Meckel syndrome) 25 -
Meesmann syndrome 2 -
Meesmanns syndrome 2 -
Megalencephaly Polymicrogyria Polydactyl syndrome 1 -
Megalocornea Mental Retardation syndrome 0 -
Melkersson Rosenthal syndrome 1 -
Melnick-Needles syndrome (Osteodysplasy; Melnick-Needles Osteodysplasty) 1 G
Melorheostosis 0 -
Menière's disease (Endolymphatic Hydrops) 0 -
Meningioma 0 -
Meningitis 9 G
Meningococcal Septicaemia 2 -
Mental Health (Post Natal Depression) 4 G
Bipolar disorder (Manic Depression; Bipolar Affective disorder Bi Polar disorder) 23 G
Bipolar disorder Type II (Bi polar disorder type II) 3 -
Conduct disorder and Oppositional Defiance disorder 104 -
Depression 44 -
Ganser syndrome 0 -
Manic Depression 2 -
Night Terrors 1 -
Obsessive Compulsive disorder (OCD) 37 G
Othello syndrome (morbid jealousy; conjugal paranoia; erotomania; Clerambault syndrome; folie à deux; late paraphrenia) 2 -
Pervasive Refusal syndrome 29 -
Pre-Natal Depression 1 -
Pschosomatic Illness 1 -
Psychological disorders 0 -
Psychosis 5 -
Somatising 0 -
Mental retardation aphasia shuffling gait adducted thumbs (MASA syndrome; Adducted thumb syndrome) 1 -
Metabolic diseases 12 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 20 -
Acrodermatitis Enteropathica 5 -
ACTH Deficiency (Isolated ACTH Deficiency) 3 -
Adenylosuccinate Lyase Deficiency 1 -
Aldosteronism 0 -
Alpers disease 24 -
Alpha Amino Adipic Aciduria 0 -
Alports syndrome (Alport syndrome) 4 -
Amyloidosis 1 -
Arginase Deficiency 0 -
Argininosuccinic Aciduria 7 -
Aromatic Amino Acid Decarboxylase Deficiency 0 -
Barth syndrome (3 Methylglutaconic Aciduria Type II) 2 G
Bartter syndrome (aldosteronism-normal blood pressure syndrome; Pseudo-Bartters; aldosteronism with hypokalemic alkalosis; juxtaglomerular hyperplasia syndrome) 6 -
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 5 -
Congenital Adrenal Hyperplasia (Adrenal Hyperplasia; CAH; adrenogenital syndrome) 13 G
Congenital Chloride Diarrhoea 1 -
Congenital disorders of Glycosylation (CDG; Carbohydrate Deficient Glycoprotein syndromes) 7 -
Congenital Folate Malabsorption (ICFM) 0 -
Congenital Hyperinsulinism (Persistent Hyperinsulinism Hypoglycaemia of Infancy; PHHI; Nesidioblastosis) 2 -
Creatine Transporter Deficiency syndrome (SLC6A8 deficiency) 5 -
Cystinosis 1 -
Cystinuria 2 -
Cytochrome C Oxidase Deficiency (COX Deficiency) 2 -
Danon disease (Glycogen Storage disease Type 2B; Glycogen Storage Disease Type IIb; Lysosomal Glycogen Storage disease with Normal Acid Maltase) 0 -
DHPR Deficiency (Phenylketonuria II; Dihydropteridine Reductase Deficiency; Atypical PKU) 2 -
Dihydropyrimidine Dehydrogenase Deficiency 0 -
Ethylmalonic Adipic Aciduria 0 -
Fabry's disease (Anderson-Fabry disease; Haemorrhagic Nodular Glycolipid Lipidosis; Angiokeratoma corporis diffusum) 0 G
Fahr disease (Fahr syndrome; Fahr's syndrome; Fahr's disease; Idiopathic Basal Ganglia Calcification; FIBGC) 0 -
Fanconi syndrome 2 -
Fibrodysplasia Ossificans Progressiva (Myositis Ossificans) 1 -
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 3 -
Hyperglycinaemia 0 -
Hyperinsulinism (Functional hypoglycaemic syndrome; hyperinsulinism syndrome; organic hyperinsulinism syndrome; Harriss syndrome; hyperinsulinoma; reactive functional hypoglycaemia.) 4 -
Hyperoxaluria (Oxalosis) 1 -
Hyperphosphatasia 0 -
Hypertriglycridaemia 0 -
Hypocalcaemia 1 -
Hypoglycaemia 0 -
Hypoparathyroidism 11 -
Hypophosphatasia 0 -
Hypophosphatemic Rickets (VitaminResistant Rickets M) 6 -
Idiopathic Hypoparathyroidism 2 -
Isolated ACTH Deficiency Isovaleric Acidaemia 0 -
Isolated Glycerol Kinase Deficiency (Glycerol Kinase Deficiency; GKD; GK Deficiency; GK1 Deficiency; Hyperglycerolaemia) 4 -
Kearne-Sayer disease 8 -
Kearns-Sayer disease 4 -
Leigh's disease 38 -
Leukodystrophy 21 -
Lipodystrophy (Berardinelli Lipodystrophy; Mandibuoacral Dysplasia; MAD; Familial Partial Lipodystrophy) 3 -
Long Chain 3 Hydrocylacyl COA Dehydrogenase defice 0 -
Maple Syrup Urine disease 1 -
Marcus Gunn syndrome (Jaw Winking syndrome) 58 -
MCADD (Medium Chain Acyl-CoA Dehydrogenase Deficiency; MCAD) 19 -
MEHMO (Mental retardation, Epileptic seizures, Hypogenitalism, Microcephaly and Obesity) 1 -
Menkes syndrome (Kinky Hair syndrome) 2 -
Metabolic Aciduria 1 -
Methionine Adenosyl Transferase 0 -
Methionine Synthase Deficiency 0 -
Methylenetetrahydrofolate Reductase Deficiency 0 -
Methylglutaconic Aciduria 2 -
Methylmalonic Aciduria 3 -
Mevalonic Aciduria 0 -
Molybdenum Cofactor Deficiency 0 -
Monamine Oxidase Deficiency (MOAD) 0 -
Multiple Hormone Deficiencies 8 -
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) 22 -
Oxalosis 1 -
Peroxisomal Defect 0 -
Primary Hypoparathyroidism 2 -
Progeria 2 -
Progeroid syndrome (Neonatal) 0 -
Pseudo-Hypoaldosteronism 5 -
Pseudocholinesterase Deficiency 4 -
Pyridoxal Phosphate Dependent Seizures (Pyridoxal 5'-phosphate-dependent Epilepsy) 0 -
Pyridoxine Dependent Epilepsy (Pyridoxine Dependent Vitamin B Deficiency; Pyridoxine Dependent Seizures; Pyridoxine Responsive Epilepsy; Pyridoxine Dependent Seizures) 7 -
Pyrine Autism 8 -
Pyruvate Dehydrogenase Complex 4 -
Pyruvate Dehydrogenase Deficiency 6 -
Pyruvate Kinase Deficiency 2 -
Pyruvate Kinase Deficiency Hemolytic Anemia 2 -
Richner-Hanhart syndrome (Richner syndrome) 0 G
Sandhoff disease 0 -
Serine Deficiency 0 -
Serum Cholinesterase Deficiency 3 -
Steroid Sulphatase Deficiency 0 -
Sucrose Intolerance 2 -
Sucrose Isomaltose Enzyme Deficiency 10 -
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 1 -
Tyrosinaemia Type 1 1 -
Tyrosine Hydroxylase Deficiency (TH Deficiency; Infantile Parkinsonism; Infantile Parkinson's disease; TH-deficient Dopa-responsive Dystonia; DRD; Progressive Infantile Encephalopathy) 0 -
Urea Cycle disorder 4 -
Very Long Chain Acyl CoA Dehydrogenase Deficiency (VLCAD; VLCADD) 1 -
Vitamin B12 Uptake Deficiency 1 -
Vitamin D Dependent Rickets Type I 0 -
Weidemann Rautenstrauch syndrome 0 -
Metaphyseal Acroscyphodysplasia 0 -
Metatarsus adductus 2 -
Mibellis (Porokerotosis) 0 -
Microcephaly 162 G
Microcephaly and Lymphoedema 0 -
Microtia 27 -
Mid-Aortic syndrome 0 -
MIDAS syndrome (Microphthalmia with Linear Skin Defects; MLS; Microphthalmia; Dermal Aplasia and Sclerocornea) 0 -
Migraine (Vertebrobasilar Migraine) 7 G
Miller syndrome 0 -
Miscarriage 1 -
Mitchell's II syndrome (Barraquer-Simons syndrome; Partial Lipodystrophy) 4 -
Mitochondrial Cytopathies (Pearson syndrome; Neuropathy; Ataxia; Retinitis Pigmentosa) 17 -
Complex 1 Deficiency 1 -
Kearns-Sayre syndrome 10 -
Lactic Acidosis 3 -
MELAS (Melas syndrome ) 1 -
Mitochondrial Myopathy 22 -
Moebius Sequence/syndrome 23 -
Momo syndrome (Macrosomia Obesity Macrocephaly Ocular Abnormality syndrome) 8 -
Moore-Federman syndrome 1 -
Morning Glory syndrome 1 -
Motor Neurone disease (Progressive Bulbar Palsy; Progressive Muscular Atrophy; Amyotrophic Lateral Sclerosis) 3 -
Primary Lateral Sclerosis 0 -
Moulded Baby syndrome 0 -
Mowat-Wilson syndrome (Microcephaly-Mental Retardation syndrome) 20 G
Moya Moya syndrome (Leeds syndrome) 5 -
Muckle-Wells syndrome (Urticaria-Deafness-Amyloidosis syndrome; UDA syndrome) 2 -
Mucopolysaccharide diseases (Mannosidosis; Sanfilippo syndome; ML II; ML IV; Multiple Sulphatese Deficiency; Morquio disease; ML III) 10 G
Aspartylglycosaminuria 0 -
Fucosidosis 1 -
Hunter disease 0 -
Hurler disease 1 -
I Cell disease 1 -
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) 1 -
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) 10 G
Multiple System Atrophy 0 -
Multisystem Vasculitis disorder 0 -
Munchausen syndrome 0 -
Muscular Dystrophy 3 G
Becker Muscular Dystrophy 6 G
Bethlem Myopathy (Benign Congenital Muscular Dystrophy) 10 -
Central Core Myopathy 4 -
Congenital Fibre Type Disproportional Myopathy 14 -
Congenital Muscular Dystrophy (Oculocerebromuscular) 11 -
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) 9 -
Myalgic Encephalomyelitis (Chronic Fatigue syndrome; ME ; Post Viral Fatigue syndrome; Viral Fatigue syndrome) 30 G
Mycobacterium Avium 0 -
Mycobacterium Avium Intracellulare 0 -
Myelin Deficiency (Delayed Myelination) 18 -
Myoclonus 2 -
Benign Myoclonus of Infancy (Benign Myoclonus) 1 -
Focal Myoclonus 0 -
Juvenile Myoclonic Epilepsy 6 -
Posthypoxic Myoclonus 1 -
Progressive Myoclonus Epilepsy 1 -
Segmental Myoclonus 0 -
Myokymia with Periodic Ataxia (Neuromyotonia and Myokymia) 0 -
Myoshi Myopathy 0 -
Myotubular Myopathy (Centronuclear Myopathy) 7 -
Nager syndrome (Acrofacial dysostosis) 4 -
Nail Dysplasia (20 Nail DystrophyDenny) 0 -
Nail-Patella syndrome (Turner-Kieser syndrome; Hereditary Osteo-Onycho Dysplasia; Fong's disease) 18 G
Nance-Horan syndrome 0 -
Narcolepsy (Gelineau syndrome) 11 G
Narcoplexy (Cataplexy) 4 -
Near Drowning 0 -
Necrotising Enterocolitis 8 -
Necrotising Fasciitis 2 -
Nemaline Myopathy 0 -
Neonatal Abstinence syndrome 0 -
Neonatal disorders 1 -
Birth Trauma 7 -
Hypoxic Ischaemic Encephalopathy 43 -
Nephrogenic Diabetes Insipidus 2 -
Neuhauser syndrome 0 -
Neuralgic Amyotrophy (Parsonage Turner syndrome) 1 -
Neuroacanthocytosis 1 G
Bassen-Kornzweig syndrome (Abetalipoproteinemia; Acanthocytosis; Apolipoprotein B deficiency) 3 -
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 4 G
Neurocutaneous Melanosis 0 -
Neuroectodermal disorder 0 -
Neurofibromatosis (Von Recklinghausen disease) 87 G
Neurological Features 3 -
Mirror Movements 1 -
SUNA (Short lasting unilateral neuralgiform headache attacks with cranial autonomic symptoms) 0 -
Neuromuscular disorders 3 -
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) 4 -
Grey Matter Heretopia (Gray Matter Heretopia) 3 -
Hereditary Nodular Heterotopia (Periventricular Nodular Heterotopia; Subependial Nodular Hetero) 3 -
Neuropathic Pain disorder 1 -
Neurotransmitter disease 0 -
GTP Cyclohydrolase 1 Deficiency (Dopa-Responsive Dystonia; Dopa; Responsive) 0 -
Succinic Semialdehyde Dehydrogonase Deficiency (SSADH) 1 -
Nicolaides-Baraitser syndrome (SPARSE HAIR AND MENTAL RETARDATION) 7 -
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) 22 -
Non-Epileptic Seizures (Pseudsoseizures) 10 -
Noonan syndrome 56 -
Norrie disease (Norries) 9 -
Obesity 2 -
Ocular Albinism 7 -
Ocular Cerebral Hypopigmentation syndrome 0 -
Oculo-Dento-Digital syndrome 8 -
Oculocerebrocutaneous syndrome (Delleman syndrome) 1 -
Oesophageal Atresia 2 -
OHDO syndrome 11 G
Okihiro syndrome 3 -
Ollier's disease (Enchondromatosis) 52 -
Olmodysplasia 1 -
Opercular syndrome (Foix Chavany-Marie syndrome) 0 -
Opitz syndromes 4 -
FG syndrome (Opitz-Kaveggio syndrome; Opitz FG syndrome; Keller syndrome) 5 -
Opitz BBB syndrome (BBB syndrome; Opitz G syndrome; Opitz-Frias syndrome; dysphagia-hypospadias syndrome; hypertelorism-oesophageal abnormality; hypospadias-dysphagia syndrome. ) 11 -
Opitz-Christian syndrome (Hypertelorisim-Hypospadias; Christian-Opitz syndrome) 0 -
Optic Glioma 6 -
Optic Neuritis 2 -
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 1 -
Glutaric Acidaemia Type I 1 -
Glutaric Acidaemia Type II (Deficiency of Electron Transfer Flavoprotein; Deficiency of Electron Transfer Flavoprotein: Ubiquinone Oxidoreductase; GA II; Glutaric Acidemia II; Glutaric Aciduria II; MADD; Multiple Acyl-CoA Dehydrogenation Deficiency) 0 -
Glutaric Acididura 0 -
L2-hydroxyglutaric aciduria 0 -
Propionic Acidaemia 2 -
Osteoitis Pubis 1 -
Osteomyelitis (Benign Relapsing Multi-Focal Osteomyelitis) 1 -
Chronic Recurrent Multifocal Osteomyelitis (CRMO) 15 -
Osteopathia Striata 7 -
Osteopetrosis (Albers-Schonberg syndrome) 2 G
Osteopoikilosis 1 -
Osteoporosis 4 -
OTA's syndrome (Ocular Dermal Melanocytosis) 0 -
Oto-palato-digital syndrome 0 -
Otofaciocervical syndrome 0 -
Pachydermoperiostosis (Touraine-Solenti-GolT syndrome) 0 -
Pachygyria 16 -
Pachymyelitis 0 -
Paget's disease (Paget's disease of the Bone; Paget disease) 0 -
Pallister Killian syndrome 16 G
Pallister-Hall syndrome 2 -
Pancreatitis 0 G
Chronic Pancreatitis 1 -
PANDAS (Paediatric Autoimmune Neuropsychiatric disorders Associated with Streptococcal Infections) 4 -
Paraplegia 2 -
Parinauds syndrome 0 -
Parkinson's disease (Parkinsonism; Parkinson's Plus) 1 G
Paroxysmal extreme pain disorder (PEPD; FRP; Hayden-Grossman syndrome; Familial rectal pain) 17 -
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) 7 G
Pathological Demand Avoidance syndrome (PDA) 133 G
Patin syndrome 0 -
Patterson-Brown-Kelly syndrome 0 -
Patterson-Stevenson-Fontaine-syndrome 0 -
Pearson syndrome 1 -
Pectus Excavatum 5 -
PEHO syndrome (Progressive Encephalopathy with Edema; Hypsarrythmia Optic Atrophy) 6 -
Pelizaeus-Merzbacher syndrome 7 -
Pena-Shokeir I syndrome (Fetal Akineasia Deformation Sequence) 0 -
Pena-Shokeir II syndrome (COFS syndrome; Cerebro-Oculo-Facio-Skeletal syndrome) 1 -
Pentalogy of Cantrell 14 -
Peripheral Neuropathy (Polyneuropathy; Chronic Hereditary Polyneuropathy; Mononeuritis Multiplex) 5 G
Andrade syndrome (Neuropathic Amyloidosis) 0 -
Chronic Hereditary Polyneuropathy 1 -
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 41 -
Perlman syndrome 0 -
Peutz-Jeghers syndrome (Multiple Poliposis) 0 -
PFAPA syndrome 2 -
PHACE (Posterior fossa malformations) Association 0 -
Phacomoatosis Pigmentokeratotica 1 -
Phenylketonuria (PKU) 5 G
Maternal PKU (Maternal Phenylkentouria) 1 -
Phocomelia 1 -
Photosensitivity 1 -
PICA 2 -
Pickwickian syndrome 0 -
Pierpont syndrome ( Plantar lipomatosis; unusual facial phenotype and developmental delay) 6 -
Pierre Robin syndrome 35 -
Pitt-Hopkins syndrome 17 -
Pitt-Rogers-Danks syndrome (Pitt syndrome) 0 -
Pituitary disorders (Hypopituitarism; Diabetes Insipidus) 10 G
Acromegaly 0 -
Cushing syndrome (Cushing disease) 4 G
Diabetes Insipidus 17 -
Hypogonadotropic Hypogonadism 1 -
Isolated Gonadotropin Deficiency 0 -
Kallman syndrome 1 -
Macro-adenoma 0 -
Panhypopituitarism 14 -
Pituitary Deficiency 5 -
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 4 G
Polydactyly 4 -
Polymorphic Light Eruption (PLE) 0 -
Polysplenia (Bilateral left-sidedness) 0 -
Pontocerebellar Hypoplasia 46 -
Popliteal Pterygium syndrome (Popliteal Web syndrome) 9 -
Porencephalic cyst 13 -
Porencephaly (Cystic Encephalomalacia) 12 -
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 7 -
Prader-Willi syndrome (Prader-Willi-Labhart) 27 G
Pre-eclampsia (HELLP; EPH Gestosis; Metabolic Toxaemia of Late Pregnancy; Pre-eclamptic Toxaemia; Pregnancy Induced Hypertension; Toxaemia in pregnancy) 6 -
Preauricular Pits 1 -
Premature Ejaculation 0 -
Pressure Palsy 0 -
Presumed Ocular Histoplasmosis 0 -
Primary Ciliary Dyskinesia (Immotile ciliary syndrome; Immotile ciliary dysfunction) 1 G
Ciliary Dyskinesia 0 -
Kartagener Syndome 0 -
PCD 1 -
Primary Immune Deficiencies (C1 Inhibitor deficiency; Leukocyte Adhesion Defect; Interferon Gamma Deficiency; ) 6 G
Adenosine Deaminase Deficiency (ADA) 1 -
Agammaglobulinaemia 2 -
Brutons's disease (x-linked agammaglobulinaemia; XLA) 1 -
Chronic Mucocutaneous Candidiasis 0 -
Common Variable Immunodeficiency (CVID) 1 -
Complement Deficiencies 1 -
Congenital Asplenia 2 -
Duncan syndrome (X-Linked Proliferative syndrome; XLP; Purtillo's syndrome) 1 -
HLA Deficiency Expression 0 -
Hypogammaglobulinaemia 1 -
Hypoglobulinaemia 0 -
ICF 0 -
IgA Deficiency 9 -
IGG Deficiency 5 -
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) 35 -
Leucocyte Adhesion Defect 0 -
Linear IgA 1 -
Linear IgA Bullous Dermatosis 1 -
Neutrophil disorders 4 -
Omenn's syndrome 8 -
Pseudoachondrodysplasia 2 -
Purine Nucleoside Phosphorylase Deficiency (PNP) 1 -
Reticular Dysgenesis 0 -
Selective IgA Deficiency 1 -
Severe Combined Immunodeficiency (SCID) 7 -
T-Cell receptor signalling defect 0 -
Vitamin K Deficiency (Hypoprothrombenaemia) 1 -
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 1 -
Creutzfeld-Jacob disease (CJD; Creutzfeld Jacob) 0 G
Gerstmann-Straussler-Scheinker disease (Gerstmann Straussler Scheinker; GSS) 1 -
Proctalgia Fugax 1 -
Progressive Multifocal Leukoencephalopathy 0 -
Progressive Osseous Heteroplasia 2 -
Progressive Supranuclear Palsy (Richardson-Steele-Olszewski syndrome) 0 -
Prolapsed Rectum (Prolapsed Bowel) 0 -
Prolapsed Umbilical Cord 0 -
Prolapsed womb 0 -
Proteus syndrome 10 G
Protruding Ears 0 -
Prune Belly syndrome 19 G
Pseudo Xanthoma Elasticum (PXE) 4 -
Pseudo-Bulbar Palsy 1 -
Pseudoarthrosis (Congenital Pseudoarthrosis) 5 -
Pseudodiastrophic Dysplasia 1 -
Pseudoglioma 0 -
Pseudoparahypothyroidism 2 -
Pseudohypoparathyroidism Type 1b 2 -
Psoriasis 3 G
Psoriatic Arthropathy 1 G
Psuedotoxoplasmosis syndrome 0 -
Pulmonary Eosinophilia 0 -
Pulmonary Hypertension 10 -
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 19 -
Pyle's disease (Metaphyseal Dysplasia) 0 -
Pyloric Stenosis 1 -
Raine syndrome 0 -
Rapid-onset Obesity with Hypothalamic Dysfunction, Hypoventilation and Autonomic Dysregulation (ROHHAD) 2 -
Raynaud's Phenomenon (Erythromelalgia; Erythermalgia) 12 G
Reactive Attachment disorder (Attachment disorder) 21 -
Reese-Ellsworth syndrome (Anterior Chamber Cleavage) 0 -
Reflex Anoxic Seizures (Pallid Infantile Syncope; Vasovagal Syncope) 37 G
Reflex Sympathetic Dystrophy 22 G
Reiter's syndrome 0 -
Relapsing Polychondritis 0 G
Renal Coloboma syndrome (Papillorenal syndrome) 0 -
Renpenning syndrome 1 -
Repetitive Strain Injury 0 -
Reproductive System Anomalies (Genital Abnormalities; Indeterminate Gender; Indescended Testes) 0 -
Ambiguous Genitalia 2 -
Micropenis 5 -
Rokitansky syndrome 28 -
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 47 -
Acromesomelic Dysplasia 2 -
Brachytelaphangic Chondrodysplasia Punctata 4 -
Diastrophic Displasia (Diastrophic Dwarfism) 4 -
Dyschondrosteosis (Leri-Weill syndrome) 5 -
Hypochondroplasia (Hypochondrodysplasia) 18 -
Intrauterine Growth Retardation 4 -
Kniest syndrome (Metatrophic Dwarfism Type II) 2 -
Majewski Osteodysplastic Primordial Dwarfism ( Caroline Crachami osteodysplastic primordial dwarfism; MOPD) 4 -
Majewski Osteodysplastic Primordial Dwarfism Type II ((MOPD II)) 1 -
Metaphyseal Anadysplasia 0 -
Metaphyseal Chondrodysplasia 1 -
Metaphyseal Chondrodysplasia (Type McKusick) (Cartilage Hair Hypoplasia) 1 -
Pseudoachondroplasia 6 -
Spondylo Epiphyseal Dysplasia Tarda X-Linked 0 -
Thanatophoric Dysplasia/Dwarfism 0 -
Three M syndrome 0 -
Retinoblastoma (Cancer of the Eye) 1 G
Retinodysphasia 0 -
Retroperitoneal Fibrosis 0 -
Rett syndrome 30 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 3 -
Roussy-Levy syndrome 1 -
Rubinstein-Taybi syndrome (Broad Thumb-Great Toe syndrome) 25 -
Rud syndrome 0 -
Ruvalcaba syndrome 0 -
Sacral Agenesis 62 G
Sacrocyccygeal Tumour 0 -
Sacroilliac facit joint syndrome 0 -
Sandifer syndrome 3 -
Sarcoidosis 0 G
Scheuermann's disease (Spinal Osteochondrosis) 3 -
Schimke Immunoosseous Dysplasia 2 -
Schinzel-Giedion syndrome 2 -
Schizophrenia (Schizotypal disorder) 7 G
Schmid Type Metaphyseal Chondrodysplasia (Metaphyseal Dysostosis Type BI; Metaphyseal Dysplasia Schmid Type) 7 -
Schmidt syndrome 0 -
Schwartz-Jampel-Aberfeld syndrome 4 -
Scimitar syndrome (Hypogenetic Lung) 7 -
Scleroderma (Morphoea) 3 G
Scleromyxedema 0 -
Scoliosis (Spondylosis; Kyphoscoliosis) 84 G
Scotopic Sensitivity syndrome (Meares-Irlen syndrome; Irlen syndrome) 6 -
Scott's syndrome 4 -
Seasonal Affective disorder 0 -
Seckel syndrome 0 -
Secreting Adrenal Carcinoma 0 -
Segmental Spinal Dysgenesis (SSD) 0 -
Selective Mutism (Elective Mutism) 75 G
Sensitive Hearing 1 -
Sensory Integration Dysfunction (Tactile Defensiveness; Olfactory Defensiveness; Sensory Defensiveness) 63 -
Sensory Neuropathy (Insensitivity to Pain; Multisensory Neuropathy) 0 -
Septic Phlebitis (Lemierre syndrome) 0 -
Septicaemia 0 -
Septo Optic Dysplasia (De Morsiers) 59 -
Shaken Baby syndrome 0 -
Short Bowel syndrome 7 -
Short Rib Polydactyly syndrome 0 -
Short syndrome 1 -
Shprintzen Goldberg (Craniofacial) syndrome 5 -
Shwachman-Diamond syndrome (Shwachman syndrome) 4 -
Shy Drager syndrome 0 -
Sickle Cell disorders (Sickle Cell Anaemia) 7 -
Silicosis 2 -
Simpson-Golabi-Behmel syndrome (Golabi-Rosen syndrome) 15 -
Situs Inversus 3 -
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 5 -
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) 47 -
Atrophoderma Vermiculata 2 -
Buschke Ollendorff syndrome 3 -
Chronic Actinic Dermatitis (photosensitivity dermatitis/actinic reticuloid syndrome (PD/AR)) 4 -
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) 4 -
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 -
X-linked Reticulate Pigmentary disorder (Familial Cutaneous Amyloidosis; Partington Amyloidosis; Partington Cutaneous Amyloidosis; Partington syndrome Type II; Reticulate Pigmentary disorder; X-linked Reticulate Pigmentary disorder with Systemic Manifestations) 0 -
Sleep disorders (Rythmic Movement disorder) 10 -
Obesity-Hypoventilation syndrome 0 -
Sleep Apnoea 9 -
Smith-Lemli-Opitz syndrome (RSH syndrome; SLOS) 24 -
Smith-Magenis syndrome (Chromosome 17p) 40 G
Smith-Theiler-Schachenmann syndrome (Rib Gap syndrome) 0 -
Sneddon Wilkinson disease 0 -
Solar Utricaria 0 -
Spastic Quadriplegia 6 -
Speech and Language Impairment 120 G
Aphasia 5 -
Developmental Verbal Dyspraxia 47 -
Dysarthria 1 -
Dysphagia 4 -
Dysphonia 1 -
Hyperlexia 2 -
Oral Dyspraxia 25 -
Semantic Pragmatic disorder (Pragmatic disorder) 14 -
Verbal Dyspraxia 54 -
Spherocytosis (Hereditary) 35 -
Spina Bifida (Occipital Encephalocele; Meningoencephaly) 83 G
Central Cleft of Lip/Encephalocele 0 -
Encephalocele 3 -
Lipomyelomeningocele 7 -
Spinal Cysts (Spinal Defrayism) 0 -
Spinal Injuries 6 G
Brown-Séquard syndrome 0 -
Cauda Equina Lesion 0 -
Spinal Muscular Atrophy 4 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) 8 -
Spondylocostal Dysplasia 0 -
Spondylolisthesis 1 -
Sprengle's Deformity 6 -
Stammering 1 G
Staphylitis 0 -
STAR syndrome (Syndactyly Telecanthus Anogential and Renal; Toe Sydactyly Telecanthus and Anogenital and Renal Malformations) 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) 14 G
Stiff Limb syndrome 0 -
Stiff Man syndrome 2 G
Stillbirths and Neonatal Deaths 3 G
Storage Pool Platelet disease 1 -
Stormorken syndrome 0 -
Stroke (Spinal Stroke; Transient Ischaemic Attack) 8 G
Vertebrobasilar Stroke 0 -
Sturge-Weber syndrome (Encephalofacial Angiomatosis; Sturge Webber syndrome) 18 G
Subacute Sclerosing Panencephalitis (SSPE) 1 G
Subglottic Stenosis 4 -
Sudden Adult Death syndrome 0 -
Sudden Infant Death syndrome (SIDS) 0 -
Supraventricular Tachycardia (SVT; Paroxysmal Supraventricular Tachycardia; PSVT) 3 -
Sydenham Chorea (Sydenham's Chorea) 16 -
Synaesthesia 0 -
Syndactyly (Webbed Fingers/Toes) 7 -
Synovitus 0 -
Syringobulbia 4 -
Syringomyelia 32 G
Systemic Mastocytosis (Diffuse Cutaneous Mastocytosis) 6 -
Takayasu Arteritis 0 -
TAR syndrome (Thrombocytopenia with Absent Radii) 12 G
Tardive Dyskinesia 0 -
Taussig- Bing syndrome 3 -
Tay Sachs disease 9 -
Technology Dependency 0 -
Assisted Ventilation 8 -
Oxygen Dependency 2 -
Tel Hashomer Camptodactyly 0 -
Temporal Arteritis 0 -
Temporomandibular Joint syndrome (TMJ; Temporomandibular Joint Pain Dysfunction syndrome; Costen syndrome) 5 -
Bruxism (Teeth Grinding) 2 -
Tethered Spinal Cord 15 -
Tetrasomy X (48XXXX; XXXX) 4 -
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 9 G
Auto-Immune Thyroid Deficiency 4 -
Graves disease 3 -
Hashimoto syndrome (Autoimmune Thyroidism) 7 -
Hyperthyroidism 2 -
Hypothyroidism 31 -
T3 Toxicosis 0 -
Thyroglossal Cyst 0 -
Thyroid Aplasia 0 -
Tic disorders 11 -
Chronic Tic disorder 3 -
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) 1 -
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) 50 G
Townes-Brocks syndrome (Townes syndrome) 9 -
Toxic Epidermal Necrolysis (Scalded Skin syndrome) 0 -
Toxic Shock syndrome 0 -
Toxocariasis 0 G
Toxoplasmosis 4 G
Trachea-Oesophageal Fistula and/or Oesophageal Atr (Oesphageal Atresia; Adynamic Oesophagus; Duodenal Atresia) 13 -
Tracheal Stenosis 7 -
Tracheobronchopathia Osteochondroplastica 1 -
Tracheomalacia 10 -
Tracheostomy 45 -
Congenital Laryngeal Stricture 0 -
Laryngomalacia (Epiglottopexy) 15 -
Ttracheomalacia 0 -
Vocal Cord paralysis 2 -
Transplants (Post-transplant Lymphoproliferative disorder) 1 -
Transverse Myelitis 6 -
Treacher-Collins syndrome (Franceshetti-Klein; First Arch syndrome; Mandibulo Dysostosis) 7 -
Trichotillomania 2 -
Trigeminal Neuralgia (Tic Douloureux) 0 G
Trigonitis 0 -
Trigonitis Pseudomembranous Idiopathic 0 -
Tube Feeding (Gastrostomy) 47 -
Tuberous Sclerosis (Epiloia; Bourneville syndrome) 34 G
Tumours 1 -
Apendoma 0 -
Astrocytoma 2 -
Benign Spinal Cord Tumour (Spinal Cord Tumour) 0 -
Bone Tumour 0 -
Brain Tumour (PNET; Apendeoma; Pilocystic Astrocytoma) 12 G
Carcinoid disease (Carcinoid syndrome) 0 -
Cowden syndrome (Multiple Hamartoma syndrome) 6 -
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 2 -
Multiple Epitheliomata 0 -
Phaeochromocytoma 0 -
Pheochromocytoma 0 -
Pilocystic Astrocytoma 0 -
Pinealoma 0 -
Rhabdomyoma 2 -
Syringoma 0 -
Turner syndrome (XO syndrome; Bonnevie-Ullrich syndrome; Gonadal Dysgenesis (XO); Monosomy X) 56 G
Mosaic XO/XY Turner syndrome 19 -
Ulcerative Colitis (Pioderma Gangrenosum) 3 -
Undiagnosed Bone disorders 0 -
Undiagnosed Endocrine disorders 1 -
Undiagnosed Learning Disability 24 -
Undiagnosed Metabolic disorders 2 -
Ureter Defects 0 -
Urethrocele 1 -
Urofacial syndrome (Ochoa syndrome) 0 -
Urological Conditions 0 -
Posterior Urethral Valves (PUV) 10 -
Undescended Testicles (Undescended Testes; Undescended Testis; Cryptorchidism) 1 -
Urostomy 0 -
Urological Conditions Neurogenic Bladder 8 -
Urticaria (Urticaral Vasculitis; Cold Urticaria; Aquagenic Urticaria) 2 -
Urticaria Pigmentosa (Cutaneous Mastocytosis; Mastocytosis) 15 -
Usher syndrome 1 G
Van Bogaert's syndrome 0 -
Van Buchem syndrome (Endosteal Hyperostosis) 0 -
Van der Woude syndrome (Demarquay syndrome) 1 -
Van Maldergram syndrome (Van Maldergem Wetzburger Verloes syndrome; Cerebrofacioarticular syndrome; Cerebro Facio Articular syndrome; Cerebro-facio-articular syndrome) 0 -
Varicella (Chicken Pox) 0 -
Congenital Varicella 1 -
Vascular disorders 1 -
Arteriovenous Malformation 2 G
Condition Fibromuscular Dysplasia (FMD) 0 -
Vasculitis 1 -
VATER Association D (VATERL Association) 10 -
Veno-occlusive disease 0 -
Vernal Conjunctivitis 0 -
Vertigo 1 -
Vestibular disorders (Balance disorders) 1 -
Viral Infection (Herpes Virus) 0 -
Charles Bonnet syndrome (Bonnet syndrome) 0 -
Visceral Myopathy 0 -
Visual Impairment/disorders 73 G
3rd Nerve Palsy of the Eye 3 -
Achromatopsia 0 -
Acute Zonal Occult Outer Retinopathy (AZOOR) 0 -
Adie syndrome (Holmes-Adie syndrome) 2 -
Ametropia 0 -
Aniridia (Congenital Abnormality of the Iris) 22 -
Anophthalmia (Heminasal Aplasia) 5 G
Axenfeld syndrome (Axenfeld Anomaly; Axenfeld-Rieger syndrome; Rieger syndrome) 2 -
Axenfeld-Schürenberg syndrome (Cyclic Oculomotor Paralysis; Congenital Cyclic Oculomotor Paralysis) 0 -
Cataracts 28 G
Choroideremia 0 -
Chromotosia Congenita 0 -
Coats' disease (Exudative Retinitis) 17 -
Coloboma 22 -
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) 6 -
Congenital Stationary Night Blindness 14 -
Corneal Dystrophy 8 -
Cortical Visual Impairment (CVI; Cerebral Visual Impairment) 12 -
Eales disease 1 -
Familial exudative vitreoretinopathy (FEVR) 2 -
Glaucoma 18 G
Homonymous Hemianopia 6 -
Idiopathic Optic Atrophy 1 -
Keratoconus 2 G
Macular disease 0 -
Macular Dystrophy 1 -
Microphthalmia 7 -
Nystagmus (Spasmus nutans; Congenital Idiopathic Nystagmus) 50 G
Nystagmus and Astigmatism 14 -
Ocular disorders (Drusen syndrome) 0 -
Optic Nerve Atrophy 10 -
Optic Nerve Dysplasia 7 -
Optic Nerve Hypoplasia 45 -
Persistant Hyperplastic Primary Vitreous 3 -
Peter's Anomaly 11 -
Peter's Plus syndrome (Peter's Plus Anomaly) 14 -
Pigment Epithelium retinal detachment 0 -
Post Polymorhous Corneal Dystrophy 0 -
Primary Aphakia 2 -
Reis-Büclers (Reis-Bncklers) 0 -
Retinitis Pigmentosa (Bulls Eye Dystrophy; Central Areola Choroidal Dystrophy; Retinal Dystrophy; Tapeto Retinal Degenaration) 5 G
Retinopathy of Prematurity 3 -
Rieger's Anomaly 1 -
Rod Monochromatisim 0 -
Sclerocornea 5 -
Spheromicrophakia 0 -
Thyroid Eye disease (Thyroid Ophthalmopathy; Thyroid Associated Ophthalmopathy; Graves' Eye disease; Graves' Ophthalmopathy ) 1 G
Uveitis 7 G
Visual Spatial disorder 0 -
Vitamin B12 Uptake Deficiency M 0 -
Vitiligo (Leukoderma) 4 G
Vogt-Koyanagi-Harada syndrome 0 -
Von Hippel-Lindau syndrome 2 G
Vulvodynia (Vulvar Dysesthesia) 1 -
Waardenburg's syndrome 11 -
Klein-Waardenburg syndrome 1 -
WAGR syndrome 8 -
Waldenstrom's Macroglobulinaemia 0 -
Warburg Micro syndrome (Micro syndrome) 6 -
Watson syndrome 0 -
Weaver syndrome 13 -
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) 134 G
Whipples disease 0 -
Wildervanck syndrome (Cervico oculo acoustic syndrome) 2 -
William's syndrome (Hypercalcaemia; Infantile Hypercalcaemia) 60 G
Wilms Tumour (Nephroblastoma) 3 -
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) 19 G
Wolf-Parkinson-White syndrome 8 -
Wolfram syndrome (DIDMOAD) 3 -
Wooly-hair syndrome (Wooly hair syndrome; whs) 0 -
Worster-Drought syndrome (Congenital Suprabulbar Paresis; Supra Bulbar Paresis; Suprabulbar Palsy) 36 G
X-linked Hypophosphatemic Rickets (Hypophosphatemic Rickets) 1 -
X-linked Juvenile Retinoschisis (Hereditary Retinoschisis) 11 -
Xeroderma Pigmentosum (Kaposi's syndrome II; De Santis-Cacchione syndrome) 2 G
XXX syndrome (Triple X) 25 -
XXYY syndrome (48,XXYY; 48XXYY) 2 -
Young syndrome (Barry-Perkins-Young) 0 -
Young-Simpson syndrome 1 -
Yunis Varon syndrome 0 -
Zollinger Ellison syndrome 0 -

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