Listing all conditions - hierarchically
Below is a hierarchical list of medical conditions that we have entries for in MakingContact.org. The number of people looking for contact for each condition is shown in brackets. You can view/list those members by clicking the condition name. If there are UK support groups for that condition it is indicated thus
.
You can also return to the search page or list these conditions alphabetically
- ( 0 )
-
( 12 )
22q11 Deletion Syndromes
- ( 14 ) DiGeorge Syndrome
-
( 1 )
Velo-Cardio-Facial Syndrome
VCFS; Sprintzen Syndrome; Catch 22
- ( 4 ) Aarskog Syndrome Aarskog-Scott Syndrome; Greig Syndrome; facial digital genital syndrome; facio genital dysplasia; shawl scrotum syndrome
- ( 2 ) Aase-Smith Syndrome
-
( 1 )
Abdominal Exstrophies
Umbilical Hernia
- ( 2 ) Exomphalos Omphalocele
- ( 5 ) Gastroschisis
- ( 15 ) Abdominal Migraine
- ( 1 ) Absence of the Septum Pellucidum
- ( 0 ) Acanthosis Nigricans
- ( 3 ) Achalasia
- ( 3 ) Achalasia-Addisonianism-Alacrimia Syndrome AAA;Allgrove Syndrome;Triple A
- ( 0 ) Achenbach Syndrome
-
( 1 )
Acne
Acne Vulgaris
- ( 0 ) Acne Vulgaris
-
( 1 )
Acoustic Neuroma
Vestibular Schwannoma
- ( 0 ) 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
-
( 8 )
Adams-Oliver Syndrome
Limbs/Scalp Defects;Adams-Olver Type
-
( 6 )
Addison Disease
Adrenal Hypoplasia
- ( 0 ) Adducted Thumbs Syndrome
-
( 3 )
Adrenoleukodystrophy
Adrenomyeloneuropathy,Schilder's Disease,Sudanophilic leukodystrophy, ALD
- ( 0 ) Adrenomyelopathy
- ( 0 ) Adynamic Oesphagus
-
( 55 )
Agenesis of the Corpus Callosum
Dysgenesis of the Corpus Callosum,Agenesis of the Corpus Callosum + Choroid Plexus Lipoma
- ( 6 ) Aicardi Syndrome
-
( 4 )
Albinism
Piebaldism,Oculocerebral Syndrome with Hypopigmentation
-
( 27 )
Albright Hereditary Osteodystrophy
AHO;Albright's Hereditary Osteodystrophy
-
( 1 )
Alkaptonuria
- ( 3 ) Allan Hurndon Dudley syndrome Allen Hurndon syndrome
-
( 16 )
Allergies
Milk Intolerance
- ( 3 ) Allergic Colitis
- ( 1 ) Allergic Enteropathy
- ( 2 ) Lactose Intolerance Hypolactasia
- ( 1 ) Latex Allergy
- ( 0 ) Multiple Chemical Sensitivity
- ( 0 ) Piriton Allergy
- ( 0 ) Uticaria Angioedema
-
( 0 )
Alopecia
Congenital Hypotrichosis;
- ( 0 ) 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
-
( 2 )
Alpha Thalassaemia
ATR-16,ATR-X,Mental Retardation on the X Chromosome
- ( 1 ) Alpha-feto protein deficiency
-
( 0 )
Alström Syndrome
Alstrom Syndrome
-
( 2 )
Alternating Hemiplegia
Alternating Hemiplegic Migraine
- ( 0 ) Ambidexterous
- ( 2 ) Amelogenesis Imperfecta Trichodento-Osseous
- ( 0 ) Amnesia
- ( 0 ) Amnesic Syndrome
- ( 2 ) Amniotic Band Syndrome
- ( 0 ) Anaemias
-
( 0 )
Acquired Aplastic Anaemia
- ( 0 ) Aplastic Anemia Hyoplastic Anaemia
- ( 0 ) Autoimmune Haemolytic Anaemia
- ( 4 ) Congenital Dyserythropiectic Anaemia Dyserythropoiectic Anaemia
- ( 0 ) Congenital Dyserythropoietic Anemia Type II
- ( 0 ) Folate Deficiency Anaemia
- ( 0 ) Haemoglobinaemia
- ( 0 ) Haemolytic Anaemia
- ( 0 ) Haemophagocytic Anaemia (Virus Associated)
- ( 1 ) Hereditary Haemolytic Anaemia
- ( 0 ) Megaloblastic Aaemia
- ( 0 ) Paroxysmal Cold Hemoglobulinuria
- ( 0 ) Pernicious Anaemia
- ( 0 ) Sideroblastic Anaemia
-
( 3 )
Anaphylaxis
Angioneurotic Oedema
- ( 2 ) 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 ) Anencephaly
-
( 32 )
Angelman Syndrome
- ( 5 ) Angina Bullosa Haemorrhagica oral blisters;oral blood blisters
-
( 1 )
Ankylosing Spondylitis
- ( 0 ) Anonychia-Onychodystrophy with Hypoplasia or Absence/Distal Phal
- ( 0 ) Anosmia Congenital Anosmia
- ( 0 ) Anoxia
- ( 0 ) Anterior Horn Cell Hypoplasia
- ( 0 ) Anti-Jo-1 Syndrome
-
( 9 )
Antiphospholipid Syndrome
Hughes Syndrome
- ( 0 ) Antithrombin Deficiency Antithrombin III Deficiency
-
( 6 )
Anxiety Disorders
School Phobia
- ( 2 ) Agoraphobia
- ( 0 ) Body Dysmorphic Disorder
- ( 0 ) Phobias
- ( 1 ) Apnoea
-
( 0 )
Arboviral Encepalites
- ( 0 ) Japanese Encephalitis
-
( 0 )
Louping Ill Virus
-
( 0 )
Powassan Virus
- ( 0 ) Tick Borne Encephalitis
- ( 0 ) West Nile Encephalitis
- ( 31 ) Arnold Chiari Malformation Chiari Malformation
- ( 11 ) Arterial Calcification of Infancy Occlusive Infantile Arteriopathy,Arteriopathy - Occlusive Infantile
-
( 5 )
Arthritis
Enteropathic Arthritis,Lumbar Spondylosis
- ( 2 ) Cervical Spondylosis
- ( 0 ) Gout
- ( 0 ) Pauci-articular Arthritis
- ( 0 ) Polumyalgica Rheumatica
- ( 0 ) Rheumatoid Arthritis
- ( 0 ) Secondary Arthritis
-
( 31 )
Arthritis (Juvenile Idiopathic)
Stills Disease
- ( 2 ) Enthestitis Related Arthritis
- ( 1 ) Juvenile Spondylitis
- ( 0 ) Monarticular Arthritis
- ( 7 ) Osteoarthritis
- ( 1 ) Polyarthritis
- ( 3 ) Polyarticular Arthritis
-
( 13 )
Arthrogryposis
Amyoplasia Congenita,Arthrogryposis Multiplex Congenita
- ( 0 ) Arthrogryposis Renal Dysfunction and Cholestasis
- ( 0 ) Gordon Syndrome
-
( 22 )
Asthma
- ( 2 ) Brittle Asthma
- ( 3 ) Ataxia (undefined)
- ( 2 ) Acute Cerebellar Ataxia Zappert's Syndrome
- ( 8 ) Cerebellar Ataxia
- ( 1 ) Cerebral Ataxia Idiopathic Cerebellar Ataxia
- ( 0 ) Episodic Ataxia
-
( 6 )
Friedreich's Ataxia
Spinocerebellar Degeneration,Recessive spinocerebellar degeneration
- ( 0 ) Recessive Spinocerebellar Degeneration
- ( 0 ) Spinal Cerebral Ataxia
- ( 1 ) Spinocerebellar Ataxia
- ( 0 ) Zappert's Syndrome
- ( 3 ) Ataxia with Oculomotor Apraxia
-
( 1 )
Ataxia-Telangiectasia
Louis Bar Syndrome
-
( 167 )
Attention Deficit Hyperactivity Disorder
AD(H)D,ADD,Attention Deficit Disorder,ADHD,Hyperkinetic Disorder
- ( 1 ) Chatterbox Syndrome
- ( 0 ) Minimal Brain Dysfunction
- ( 0 ) Auditory Memory Loss
-
( 314 )
Autistic Spectrum Disorders including Aspergers Syndrome
autism,aspergers syndrome,asperger,asd
- ( 0 ) Autoimmune Disorders
- ( 1 ) Autoimmine Neutropenia
- ( 0 ) Autoimmune Enteropathy
- ( 0 ) Autonomic Neuropathy
- ( 1 ) Acute Cholinergic Dysautonomia
- ( 0 ) Riley-day syndrome Riley day
- ( 3 ) Avascular Necrosis Osteonecrosis
- ( 2 ) Back Pain
- ( 1 ) Baller-Gerold Syndrome craniosynostosis-radial aplasia syndrome
- ( 4 ) Bannayan-Riley-Ruvalcaba Syndrome Bannayan-Zonana Syndrome;Riley-Smith Syndrome;Ruvalcaba Myhre-Smith syndrome;Bannayan Syndrome;Macrocepahly; Multiple Lipomas and Hemangiomata;
- ( 0 ) Barber-Say Syndrome
-
( 7 )
Bardet-Biedl Syndrome
Laurence-Moon-Bardet-Beidl Syndrome, Adipogenital Retinitis Pigmentosa-Polydactyly
- ( 0 ) Barre-Lieou Syndrome
- ( 0 ) Bartsocas-papas syndrome Popliteal Pterygium syndrome- Lethal Type
-
( 1 )
Batten Disease
- ( 0 ) Jansky-Bielschowsky Disease (Late Infantile Type)
- ( 0 ) Kufs Disease (Adult type)
- ( 0 ) NCL
- ( 0 ) Neuronal Ceroid Lipofuscinosis Type 1 (Infantile)
- ( 0 ) 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
- ( 2 ) Beals II Syndrome Congenital Contractural Arachnodactyly;Beals Hecht Syndrome
-
( 7 )
Beckwith-Wiedemann Syndrome
Neonatal hypoglycaemia, visceromegaly, hemihypertrophy,Exomphalos-Macroglossia-Gigantism
- ( 16 ) Behavioural Difficulties Emotional Difficulties;Episodic Dyscontrol Syndrome
- ( 0 ) Behçet Syndrome Touraine Apthosis;Halushi-Behcet Syndrome;Adamantiades-Behcets;Oculobuccogenital syndrome
- ( 0 ) Behrs Hereditary Optic Atrophy Behr Syndrome
- ( 0 ) Bells Palsy
- ( 0 ) Benign Essential Tremor Essential Tremor
- ( 0 ) Benign Hereditary Chorea Benign Familial Chorea
- ( 0 ) Benign Paroxysmal Positonal Vertigo
- ( 10 ) Benign Paroxysmal Torticollis in Infancy
- ( 0 ) Traumatic Birth
- ( 0 ) Bernard-Soulier Syndrome
-
( 1 )
Birthmarks/Naevus
Naevus;Fragmented Mole;Congenital Giant Naevus
-
( 1 )
Congenital Melanocytic Naevi
- ( 0 ) Melanocytic Naevus
-
( 1 )
Vascular Birthmarks
- ( 0 ) Bladder Disease
- ( 0 ) Irritable Bladder Urge Incontinence
- ( 1 ) Vesico-ureteral Reflux
-
( 3 )
Bladder Exstrophy
exstrophy epispadias complex
- ( 1 ) Cloacal Exstrophy
- ( 0 ) Ectopic Bladder
- ( 0 ) Ectopica Vesicae
- ( 0 ) Epispadias
- ( 0 ) Epispadias (Female)
- ( 0 ) Vesico Intestinal Fissure
- ( 3 ) Blood Disorders
- ( 0 ) Anti K Antibodies
- ( 0 ) Eosinophilia
- ( 0 ) Essential Thrombocythemia
- ( 0 ) Factor II Deficiency
- ( 4 ) Factor V Leiden
- ( 0 ) Factor XI Deficiency
-
( 0 )
Glanzmann's Thrombasthenia
Thrombasthenia
- ( 0 ) Haemoglobin G Norfolk
- ( 0 ) Haemoglobin M
- ( 2 ) Hypereosinophilia Syndrome
- ( 2 ) Idiopathic Hypereosinophilia Syndrome
- ( 0 ) Infantile Pyknocytosis
- ( 0 ) Intrinsic Platelet Defect
- ( 0 ) Methaemogloulinaemia
- ( 0 ) Monoclonal Gammopathy
- ( 1 ) Monoclonal Globulinopathy of Unknown Significance
- ( 0 ) Owren Disease
- ( 0 ) PlateletFunction Disorders
- ( 0 ) Polycythemia
- ( 1 ) Polycythemia Vera
- ( 0 ) Protein C Deficiency
- ( 1 ) Protein S Deficiency
- ( 0 ) Rhesus Incompatibility Haemolytic Disease of the Newborn
- ( 0 ) Thrombocythemia
- ( 1 ) Thrombocytopenia
- ( 0 ) Thrombocytosis
- ( 1 ) Thrombophilia
- ( 0 ) Bloom Syndrome Bloom-Torre-Mackacek
- ( 6 ) Blount Barber Syndrome Blounts Disease;Tibia vara
- ( 0 ) Bone Disorders
- ( 2 ) Fibrous Dysplasia
- ( 1 ) Osteofibrous Dysplasia
- ( 0 ) Osteopenia
- ( 4 ) Skeletal Dysplasias
- ( 0 ) 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
- ( 1 ) BPES Blepharophimosis Syndrome,Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome
- ( 5 ) Brain Disorders (inc Head Injury)
- ( 10 ) Benign Intracranial Hypertension Pseudotumour Cerebri; Idiopathic Intracranial Hypertension
- ( 2 ) Brain Aneurysm
- ( 2 ) Brain Cysts Arachnoid Cysts;Periventricular Cysts
- ( 17 ) Brain Damage/Injury (acquired and congenital)
- ( 0 ) 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
- ( 0 ) Cerebral Malacoplakia
- ( 0 ) Cleft Split of Cerebellum
-
( 2 )
Head Injuries
- ( 0 ) Hypopthalamic Dysfunction
- ( 1 ) Hypoxic Brain Damage
- ( 0 ) Organic Brain Dysfunction
- ( 0 ) Pallidol Degeneration
-
( 0 )
Vein of Galen Malformation
- ( 4 ) Ventriculomegaly
- ( 0 ) Branchial Cleft Cyst
- ( 2 ) Branchio-Oculo-Facial Syndrome
- ( 1 ) Branchio-Oto-Renal Syndrome
- ( 1 ) Breath Holding
-
( 11 )
Brittle Bone Diseases
Osteogenesis Imperfecta
- ( 1 ) Dentinogenesis Imperfecta
- ( 5 ) Osteogenesis Imperfecta
- ( 1 ) Sacrococcygeal Teratoma
- ( 0 ) Brody disease
-
( 3 )
Broncho Pulmonary Dysplasia
BPD
- ( 0 ) Brown-Vialetto-Van-Laere Syndrome
- ( 0 ) Buerger Disease Occlusive Peripheral Vascular Disease,Thromboangiitis Obliterans
- ( 3 ) Bulbar Palsy
- ( 0 ) 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
- ( 2 ) Camurati Englemann Syndrome Englemann Syndrome;Progressive Diaphyseal Dysplasia
-
( 1 )
Cancer
- ( 0 ) Asbestosis
- ( 0 ) Branchial Cleft Carcinoma
- ( 0 ) Cervical Cancer
-
( 5 )
Chromosome 14 Disorder
- ( 0 ) Cylindroma Adenoid Cystic Carcinoma
- ( 0 ) Ependymoma Tumour
- ( 0 ) Ewing's Sarcoma
- ( 0 ) Fibrosarcoma
- ( 0 ) Gastric Teratoma Tumour
- ( 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
- ( 4 ) Cardiofaciocutaneous Syndrome CFC Syndrome
-
( 1 )
Cardiomyopathies
HCM,Dilated Cardiomyopathy,Hypertrophic Cardiomyopathy
- ( 1 ) Carney Syndrome Carney Triad;Carney Complex;Lamb Syndrome;Name Syndrome
- ( 0 ) 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
- ( 5 ) Catel-Manzke Syndrome Pierre Robin Syndrome with Hyperphalangy & Clinodactyly
- ( 5 ) Caudal Regression Syndrome Mermaid Syndrome;Caudal Dysplasia;Caudal Dysgenesis
- ( 0 ) Cavernous Haemangioma Cavernoma
- ( 0 ) Cellulitis
- ( 2 ) Central Auditory Processing Disorder
- ( 0 ) Cephalic Disorders Acephaly;Colpocephaly;Exencephaly;Micrencephaly;Octocephaly;Iniencephaly
- ( 0 ) Megalencephaly Macrencephaly
- ( 5 ) Schizencephaly
- ( 6 ) Cerebral Atrophy
-
( 164 )
Cerebral Palsy
- ( 5 ) Cerebrocostomandibular Syndrome Smith-Theiler-Schachenmann Syndrome;CCM Syndrome; CCMS;Rib Gap Defects with Micrognathia
- ( 0 ) Channelopathies
-
( 19 )
Charcot-Marie-Tooth Disease
Motor & Sensory Neuropathy,Hereditary Motor & Sensory Neuropathy,Peroneal Muscular Dystrophy,Peroneal Muscular Atrophy,CMT,Congenital Axonal Neuropathy
- ( 2 ) Dejerine Sottas Disease Progressive Hypertropic Interstitial Polyneuropathy
-
( 5 )
CHARGE Association
"Colomba;Heart Defect; Atresia Choanae; Restricted Growth and Development; Genital Hypoplasia; Ear Anomalies"
- ( 2 ) Cherubism Fibrous Jaw Dysplasia
- ( 0 ) Chilaiditi Syndrome
- ( 0 ) CHILD syndrome congenital hemidysplasia with ichthyosiform erythroderma and limb defects
- ( 1 ) Childhood Illness Erysiplers;Croup;febrile convulsions;german measles;glue ear;impetigo;mumps;scarlet fever;threadwork;whooping cough
- ( 1 ) Chondromalacia Patellae
- ( 0 ) Chorioretinopathy and Pituitary Dysfunction CPD Syndrome
- ( 1 ) Choroid Plexus Cysts
-
( 14 )
Chromosome Disorders
-
( 4 )
Chromosome 1 Disorder
-
( 1 )
Chromosome 10 Disorder
-
( 1 )
Chromosome 11 Disorder
-
( 9 )
Chromosome 12 Disorder
-
( 0 )
Chromosome 13 Disorder
-
( 3 )
Chromosome 15 Disorder
-
( 0 )
Chromosome 16 Disorder
-
( 5 )
Chromosome 17 Disorder
-
( 0 )
Chromosome 19 Disorder
-
( 3 )
Chromosome 2 Disorder
-
( 3 )
Chromosome 20 Disorder
-
( 2 )
Chromosome 21 Disorder
-
( 1 )
Chromosome 22 Disorder
-
( 3 )
Chromosome 3 Disorder
-
( 4 )
Chromosome 4 Disorder
-
( 5 )
Chromosome 5 Disorder
-
( 3 )
Chromosome 6 Disorder
-
( 0 )
Chromosome 7 Disorder
-
( 5 )
Chromosome 8 Disorder
-
( 1 )
Chromosome 9 Disorder
- ( 0 ) Chromosome Marker
- ( 3 ) de Grouchy Syndrome I 18p- syndrome;18p deletion syndrome;chromosome 18p monosomy;del(18p) syndrome;deletion 18p syndrome; monosomy 18p;partial monosomy 18p
- ( 6 ) De Grouchy Syndrome II 18q- syndrome; 18q deletion syndrome;chromosome 18q;del(18q) syndrome;deletion 18q syndrome;monosomy 18q;partial monosomy 18q
- ( 4 ) isodicentric 15 idic(15)
- ( 24 ) Monosomy 1p36 deletion syndrome
- ( 0 ) Mosaic Variegated Aneuploidy
- ( 0 ) Penta X Syndrome XXXXX Syndrome
- ( 1 ) Ring G Monosomy
- ( 0 ) Ring X
- ( 3 ) Translocations
- ( 1 ) Triploidy
- ( 0 ) Uniparental Disomy
- ( 0 ) Chronic Advancing Peripheral Axonal Neuropathy
- ( 1 ) Chronic Bullous Disease of Childhood Linear IgA Dermatosis;LAD;Chronic Bullous Dermatitis of Childhood
- ( 0 ) Chronic Eustacian Tube Dysfunction
- ( 0 ) Chronic Functional Abdominal Pain
- ( 0 ) Chronic Infantile Neurological Cutaneous Articular CINCA; Neonatal Multisystem Inflammatory disease; NOMID
- ( 5 ) Chronic Pain Syndrome
- ( 0 ) Chronic Partial Denervation
- ( 0 ) Chronic Progressive External Ophthalmoplegia
-
( 11 )
Cleft Lip and/or Palate
Cleft Mandible
- ( 12 ) Cleidocranial Dysplasia Marie Sainton Syndrome;Cleidocranial Dysostosis
- ( 0 ) Cochlear Implants
- ( 3 ) Cockayne Syndrome Cockayne Neills Dwarfism
-
( 2 )
Coeliac Disease
Sprue Syndrome;Gluten Enteropathy
- ( 0 ) Dermatitis Herpetiformis
- ( 0 ) Coffin-Lowry Syndrome
- ( 4 ) Coffin-Siris Syndrome Dwarfism-onychodysplasia;Fifth Digit Syndrome
- ( 0 ) Cogan's Dystrophy Cogan's Syndrome III
- ( 1 ) Cogan's I Syndrome Keratitis-Deafness
-
( 1 )
Cohen Syndrome
- ( 3 ) Colitis Lymphocytic Colitis
- ( 0 ) Coma Persistent Vegetative State
- ( 0 ) Condylar Hyperplasia
-
( 1 )
Congenital Absence of the Testes
Anorchidism,Absence of Testes
- ( 0 ) Anorchia (Acquired)
- ( 1 ) Anorchidism
- ( 0 ) Congenital Adrenal Hypoplasia
-
( 19 )
Congenital Bilateral Perisylvian Syndrome
-
( 0 )
Congenital Central Hypoventilation Syndrome
Central Hypoventilation Syndrome;Ondine's; Ondine's Curse;CCHS; Congenital Alveolar Hypoventilation;Congenital Failure of Autonomic Control of Respiration
Idiopathic Alveolar Hypoventilation;Primary Alveolar Hypoventilation;Primary Central Hypoventilatio
- ( 31 ) Congenital Dislocation of the Hip CDH
- ( 12 ) Congenital Insensitivity to Pain
- ( 0 ) Congenital Lymphoedema Primary Lymphoedema
-
( 14 )
Congenital Ocular Motor Apraxia
Oculomotor Apraxia;Saccade initiation;Cogan's apraxia
- ( 0 ) Conn Syndrome
- ( 0 ) Connective Tissue Disorders
- ( 2 ) Cutis Laxa elastolysis
- ( 0 ) Mixed Connective Tissue Disease
- ( 0 ) Undifferentiated Connective Tissue Disease
- ( 14 ) Conradi-Hunermann Syndrome Chondrodysplasia Punctata (Rhizomelic Type),Rhizomelic Chondrodysplasia Punctata
- ( 0 ) Conversion Disorder
-
( 10 )
Cornelia De Lange Syndrome
Status Degenerativus Typus Amstelodamensis,Amsterdam Dwarfism,Brachman de Lange,Status Degenerativus Typus Amstelodamensis,De Lange I Syndrome
- ( 2 ) Cortical Dysplasia
-
( 1 )
Costello Syndrome
- ( 1 ) Costochondritis
-
( 2 )
Cot Death
- ( 0 ) Craniodiaphyseal Dysplasia
-
( 5 )
Craniofacial Conditions
- ( 0 ) Acrocephaloplysyndactyly
- ( 0 ) Acrocephalosyndactyly
- ( 0 ) Acrocephalosyndactyly II
- ( 0 ) Acrocephalosyndactyly III
- ( 0 ) Acrocephalosyndactyly VI
- ( 0 ) Antley Bixler Syndrome
- ( 1 ) Apert Syndrome
- ( 0 ) Bicoronal Synostosis
- ( 0 ) Brachycephaly Bicoronal Synostosis
- ( 1 ) C-Trigonocephaly Opitz Trigonocephaly Syndrome;C Syndrome;Trigonocephaly Syndrome
- ( 5 ) Carpenter Syndrome
- ( 0 ) Cloverleaf Syndrome Kleeblattschsedel Syndrome;Cloverleaf skull
- ( 2 ) Craniofacial Cleft (Tessier Scale)
- ( 0 ) Craniofrontonasal Dysplasia Craniofrontal Dysostosis
- ( 1 ) Craniostenosis
- ( 29 ) Craniosynostosis
- ( 2 ) Crouzon Syndrome
- ( 1 ) Frontal Bone Protrusion
- ( 2 ) Frontonasal Dysplasia Median Cleft Face Syndrome; de Meyer Syndrome
- ( 0 ) Oxycephaly Turricephaly
- ( 3 ) Pfeiffer Syndrome
- ( 2 ) Plagiocephaly
- ( 0 ) Proboscis Lateralis
- ( 4 ) Saethre-Chotzen Syndrome
- ( 2 ) Scaphocephaly
- ( 3 ) Trigonocephaly
- ( 0 ) Craniometaphyseal Dysplasia
-
( 13 )
Cri du Chat Syndrome
Chromosome 5p,Lejeune Syndrome
-
( 0 )
Crohn's Disease
Colitis
- ( 0 ) Cronkite-Canada Syndrome
- ( 0 ) Crosslaterality
- ( 0 ) Cryoglobulinaemia
- ( 4 ) Currarino Syndrome Currarino Triad
- ( 0 ) Curry-Jones Syndrome
- ( 8 ) Cutis Marmorata Telangiectatica Congenita Macrocephaly, Cutis Marmorata Telangiectatica Congenita
-
( 5 )
Cyclical Vomiting
- ( 0 ) Cystic Adenomatoid Malformation Type I CAM I
- ( 0 ) Cystic Angiomatosis
-
( 9 )
Cystic Fibrosis
Cystic Fibrosis
-
( 26 )
Cystic Hygroma
-
( 14 )
Cytomegalovirus
CMV
- ( 6 ) DAMP Deficits in Attention; Motor control and Perception
-
( 0 )
Dancing Eye Syndrome
Opsoclonus-myoclonus,Kinsbourine Syndrome,Myoclonic Encephalopathy
- ( 17 ) Dandy Walker Syndrome
- ( 1 ) De Barsy Syndrome
-
( 3 )
Deaf Blind/Rubella Damaged
Congenital Rubella Syndrome,Rubella
- ( 0 ) Deafblindness
-
( 20 )
Deafness
- ( 3 ) Auditory Neuropathy
- ( 1 ) Enlarged Vestibular Aqueduct Syndrome
- ( 0 ) Glue Ear
- ( 0 ) Otosclerosis
- ( 4 ) Pendred Syndrome
-
( 0 )
Degos Disease
Kohlmeier-Degos Disease,Degos-Kohlmeier Disease,Malignant Atrophic Papulosis
- ( 0 ) Dementias
-
( 1 )
Alzheimer's Disease
- ( 0 ) Binswanger Disease
- ( 6 ) Cerebral Autosomal Dominant Arteriopathy with Subc CADASIL
-
( 3 )
Corticobasal Degeneration
- ( 0 ) 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
- ( 1 ) Dentato-Olivary Dysplasia
- ( 0 ) Dentatorubral-pallidoluysian Atrophy DRPLA
- ( 3 ) Dercum Disease
-
( 0 )
Dermatomyositis and Polymyositis
Juvenile Dermatomyositis
- ( 0 ) Desquamative Interstitial Pneumenitis Interstitial Pneumonitis
- ( 3 ) Developmental Motor Co-ordination Disorder
- ( 1 ) Devic Disease Neuromyelitis Optica
-
( 9 )
Diabetes Mellitus
- ( 0 ) Maturity Onset Diabetes of the Young
- ( 0 ) Steroid Induced Diabetes
-
( 9 )
Diamond Blackfan Anaemia Syndrome
Blackfan Diamond Syndrome,Congenital Aregenerative Anaemia,Erythrogenesis Imperfecta,Primary Red Cell Anaemia,Hypoplastic Congenital Anaemia,Idiopathic Erythroblastopenia
-
( 10 )
Diaphragmatic Hernia
Congenital Diaphragmatic Hernia
- ( 4 ) Diastasis Symphysis Pubis Symphysis Pubic Dysfunction
- ( 2 ) Diastematomyelia
- ( 0 ) Diencephalic Syndrome Diencephalic Tumor of Infancy
- ( 0 ) Digestive Disorders
- ( 0 ) Diogenes Syndrome
- ( 0 ) Discitis
- ( 0 ) Disintegrative Psychosis Childhood Disintegrative Disorder,Heller Syndrome
- ( 1 ) Diverticulitis
- ( 0 ) Divry-Van Bogaert Syndrome Angiomatosis Diffuse Corticomeningeal,Bogaert- Divry Syndrome
- ( 3 ) Donnai-Barrow Syndrome
- ( 0 ) Door Syndrome
-
( 78 )
Down's Syndrome
Trisomy 21,Chromosome 21 Trisomy, downs
- ( 2 ) Mosaic Down's Syndrome
-
( 19 )
Down's Syndrome with Heart Defect
downs with heart defect
- ( 0 ) Drugs (adverse reactions) Tetracyclene (adverse reaction)
- ( 0 ) Drusen Disease
- ( 7 ) Duane Retraction Syndrome Duane Syndrome;DRS
- ( 2 ) Dubowitz Syndrome
-
( 24 )
Duchenne Muscular Dystrophy
dmd
- ( 1 ) Dyggve-Melchior-Clausen Syndrome
- ( 0 ) Dyke Davidoff-Masson Syndrome Cerebral Hemiatrophy,DDM
- ( 2 ) Dyscalculia
- ( 1 ) Dysequilibrium Syndrome Cerebellar Disorder; Nonprogressive; with Mental Retardation
- ( 0 ) Dysgraphia
-
( 7 )
Dyskeratosis Congenita
-
( 18 )
Dyslexia
- ( 0 ) Dysosteosclerosis
- ( 0 ) Dysphasia
- ( 0 ) Dysplasia Epiphysealis Hemimelica Trevor Disease
-
( 87 )
Dyspraxia
Motor Learning Difficulty,Clumsy Child Syndrome,Bilateral Integration
-
( 11 )
Dystonia
- ( 0 ) Abdominal Wall Dystonia
- ( 0 ) Belly Dancer Diskinesia
- ( 5 ) Benign Paroxysmal Torticollis
- ( 2 ) Chorioathetosis Paroxysmal Kinesigenic Choreoathetosis;Paroxysmal Kinesogenic Dyskinesia;Paroxysmal Dystonic Choreoathetosis
- ( 0 ) Laryngeal Dystonia
- ( 0 ) Nervous Tic
- ( 0 ) Oromandibular Dystonia
- ( 0 ) Paroxysmal Torticollis
- ( 1 ) Segawa Syndrome
- ( 1 ) Spasmodic Dysphonia
- ( 1 ) Spasmodic Torticollis
- ( 0 ) Torsion Dystonia
- ( 0 ) Torticollis
- ( 0 ) Eagle Syndrome
- ( 0 ) Ear Nose and Throat Disorders
- ( 2 ) Choanal Atresia
- ( 0 ) Cholesteatoma
- ( 0 ) Otitis Media
- ( 0 ) Pschogenic cough
- ( 1 ) Sinusitis Concha Bullosa
-
( 3 )
Eating Disorders
- ( 1 ) Anorexia Nervosa
- ( 0 ) Bulimia Nervosa
-
( 5 )
Ectodermal Dysplasia
Walker-Clodius Syndrome,EEC Syndrome
- ( 0 ) Anhidrotic Ectodermal Dysplasia
- ( 0 ) Ectodermal Dysplasia Syndrome
- ( 4 ) Ectrodactyly; Ectodermal Dysplasia; Cleft Lip & Palate Syndrome
- ( 0 ) Hidrotic Ectodermal Dysplasia
- ( 2 ) Hydrohidrotic Ectodermal Dysplasia
- ( 0 ) Pachyonichia Congenita
- ( 0 ) Rapp Hodgkins
- ( 0 ) Tooth and Nail Syndrome
- ( 2 ) Trichorhinophalangeal Syndrome Type 1
- ( 0 ) X-linked Hypohidrotic Ectodermal Dysplasia
-
( 5 )
Eczema
Ectopic Eczema
- ( 2 ) Atopic Eczema
-
( 27 )
Edward's Syndrome
Trisomy 18,Chromosome 18 Trisomy (18 + Syndrome)
-
( 21 )
Ehlers-Danlos Syndrome
Cutis Hyperelastica,Arthrochalasis-Multiplex Congenita,EDS
- ( 0 ) Elliptocytosis
-
( 1 )
Ellis-Van Crevald Syndrome
Chondroectodermal Dysplasia
-
( 9 )
Encephalitis
Viral Encephalitis
-
( 15 )
Acute Disseminated Encephalomyelitis
ADEM
- ( 1 ) Hashimoto Encephalitis
- ( 3 ) Herpes Encephalitis
- ( 0 ) Meningoencephalomyelitis
- ( 1 ) Mycoplasm Encephalitis
-
( 9 )
Rasmussens Encephalitis
- ( 1 ) Encephalocraniocutaneous Lipomatosis
- ( 1 ) Endocardial Fibroelastosis
- ( 1 ) Endometriosis
- ( 0 ) Enterovirus Non-polio Enterovirus
- ( 10 ) Eosinophilic Colitis
- ( 4 ) Eosinophilic Gastroenteritis
- ( 1 ) Epidermal Naevus Syndrome
-
( 2 )
Epidermolysis Bullosa
EB Simplex
- ( 1 ) Dystrophic EB
- ( 0 ) Junctional Epidermolysis Bullosa Junctional EB
- ( 0 ) Epiglottitis Supraglottisis
-
( 85 )
Epilepsy
Spinal Myoclonus,Unverricht Lundborg
- ( 1 ) Benign Neonatal Familial Convulsions
- ( 4 ) Benign Paroxysmal Tonic Upward Gaze
- ( 6 ) Dravet Syndrome
- ( 1 ) Electrical Status Epilepticus of Slow Wave Sleep ESES
- ( 0 ) Gelastic Epilepsy
- ( 0 ) Hypsarrhythmia
- ( 0 ) Jacksonian Seizures
- ( 0 ) Ketogenic Diet
- ( 3 ) Myoclonic Astatic Epilepsy Doose Syndrome
- ( 16 ) Myoclonic Epilepsy
-
( 8 )
Ohtahara Syndrome
Early Infantile Epileptic Encephalopathy,EIEE
- ( 0 ) Ramsay Hunt Syndrome Baltic Myoclonus, Unverricht-Lundborg Syndrome, Unverricht-Lundborg Disease,Unverricht Lundborg
- ( 0 ) Rolandic Epilepsy
- ( 6 ) Severe Infantile Myoclonic Epilepsy
- ( 10 ) Temporal Lobe Epilepsy
- ( 1 ) Todd's Paralysis
- ( 0 ) Epstein Barr Virus
-
( 3 )
Erb's Palsy
Klumpke's Paralysis,Brachial Plexus paralysis
- ( 1 ) Erythromelalgia
- ( 0 ) Evans Syndrome
- ( 0 ) Executive Function Disorder
- ( 1 ) Extrapyramidal Disorder
-
( 0 )
Fabry's Disease
Anderson-Fabry Disease, Haemorrhagic Nodular Glycolipid Lipidosis, Angiokeratoma corporis diffusum
-
( 4 )
Facial Disfigurement
Facial Palsy
-
( 0 )
Facioscapulohumeral Muscular Dystyrophy
Facioscapuloperoneal Muscular Dystrophy,Landouzy-Dejerine
- ( 0 ) Fahr Disease
- ( 9 ) Failure to Thrive
-
( 1 )
Familial Dysautonomia
- ( 0 ) Familial Hyperlipidaemia Familial Hypercholesterolaemia,Familial Hypertriglyceridaemia,FCH,Hyperlipidaemia,Familial Combined Hyperlipidaemia
-
( 0 )
Familial Hyperlipidaemias
Hypercholesterolaemia
- ( 1 ) Familial Mediterranean Fever Siegal-Cattan-Mamou Syndrome
-
( 2 )
Familial Spastic Paraplegia
Struempel Disease,Hereditary Spastic Paraplegia,Spastic Diplegia,Spastic Paraparesis,Spastic Paraplegia
-
( 2 )
Fanconi's Anaemia
Aplastic Anaemia - Congenital,Congenital Aplastic Anaemia
-
( 0 )
Fatal Familial Insomnia
-
( 0 )
Fatty Acid Oxidation Disorders
- ( 0 ) Fazio-Londe Syndrome Progressive Bulbar Paralysis
- ( 2 ) Febrile Convulsions
- ( 0 ) Femur-Fibula-Ulna Syndrome
-
( 0 )
Fetal Abnormalities
- ( 0 ) Benzodiazepines in Pregnancy
-
( 21 )
Fetal Alcohol Syndrome
-
( 27 )
Fetal Anti-Convulsant Syndrome
Fetal Phenytoin Syndrome,Fetal Hydrotoin Syndrome,Phenytoin Syndrome,Sodium Valporate Syndrome
- ( 0 ) 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
- ( 10 ) Fibromyalgia
- ( 0 ) Fibrosing Alveolitis
- ( 0 ) Filipi Syndrome
- ( 0 ) Filippi Syndrome
- ( 0 ) Fine Lubinsky Syndrome
- ( 0 ) Finlay-Marks Syndrome
-
( 5 )
Floating-Harbor Syndrome
- ( 0 ) Forestier's Disease Diffuse Ideopathic Skeletal Hyperostosis
-
( 22 )
Fragile X Syndrome
Fraxe Syndrome
- ( 0 ) Fraser Syndrome Cryptothalmus Syndactylly
-
( 3 )
Freeman Sheldon Syndrome
- ( 2 ) Frontometaphyseal Dysplasia
- ( 7 ) Fryns Syndrome
- ( 0 ) Gait Apraxia
-
( 2 )
Galactosaemia
- ( 0 ) Gall Bladder Problems Cholecystectomy
- ( 0 ) Galloway Syndrome
- ( 1 ) Gardner's Syndrome Familial Adenomatous Polyposis,Polyposis coli
- ( 0 ) Gastric Disorders
- ( 0 ) Gastroenteropathy
