MakingContact.org Listing All Conditions

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 .

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( 0 )
( 20 ) 22q11 Deletion Syndromes
( 22 ) DiGeorge Syndrome
( 3 ) Velo-Cardio-Facial Syndrome VCFS; Sprintzen Syndrome; Catch 22
( 10 ) 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
( 6 ) Gastroschisis
( 18 ) Abdominal Migraine
( 2 ) 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
( 16 ) Adams-Oliver Syndrome Limbs/Scalp Defects;Adams-Olver Type
( 8 ) Addison Disease Adrenal Hypoplasia
( 0 ) Adducted Thumbs Syndrome
( 3 ) Adrenoleukodystrophy Adrenomyeloneuropathy,Schilder's Disease,Sudanophilic leukodystrophy, ALD
( 0 ) Adrenomyelopathy
( 0 ) Adynamic Oesphagus
( 65 ) 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
( 30 ) Albright Hereditary Osteodystrophy AHO;Albright's Hereditary Osteodystrophy
( 1 ) Alkaptonuria
( 3 ) Allan Hurndon Dudley syndrome Allen Hurndon syndrome
( 18 ) Allergies Milk Intolerance
( 4 ) Allergic Colitis
( 3 ) Allergic Enteropathy
( 3 ) 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
( 3 ) 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
( 3 ) 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
( 1 ) Pernicious Anaemia
( 0 ) Sideroblastic Anaemia
( 3 ) Anaphylaxis Angioneurotic Oedema
( 2 ) Andermann Syndrome Charlevoix Disease
( 4 ) 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
( 8 ) Anencephaly
( 49 ) Angelman Syndrome
( 7 ) Angina Bullosa Haemorrhagica oral blisters;oral blood blisters
( 2 ) 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
( 10 ) Antiphospholipid Syndrome Hughes Syndrome
( 0 ) Antithrombin Deficiency Antithrombin III Deficiency
( 11 ) Anxiety Disorders School Phobia
( 3 ) Agoraphobia
( 0 ) Body Dysmorphic Disorder
( 0 ) Phobias
( 4 ) Apnoea
( 0 ) Arboviral Encepalites
( 0 ) Japanese Encephalitis
( 0 ) Louping Ill Virus
( 0 ) Powassan Virus
( 0 ) Tick Borne Encephalitis
( 0 ) West Nile Encephalitis
( 36 ) Arnold Chiari Malformation Chiari Malformation
( 16 ) Arterial Calcification of Infancy Occlusive Infantile Arteriopathy,Arteriopathy - Occlusive Infantile
( 6 ) Arthritis Enteropathic Arthritis,Lumbar Spondylosis
( 3 ) Cervical Spondylosis
( 0 ) Gout
( 0 ) Pauci-articular Arthritis
( 0 ) Polumyalgica Rheumatica
( 1 ) Rheumatoid Arthritis
( 0 ) Secondary Arthritis
( 37 ) Arthritis (Juvenile Idiopathic) Stills Disease
( 2 ) Enthestitis Related Arthritis
( 1 ) Juvenile Spondylitis
( 0 ) Monarticular Arthritis
( 11 ) Osteoarthritis
( 1 ) Polyarthritis
( 6 ) Polyarticular Arthritis
( 14 ) Arthrogryposis Amyoplasia Congenita,Arthrogryposis Multiplex Congenita
( 0 ) Arthrogryposis Renal Dysfunction and Cholestasis
( 0 ) Gordon Syndrome
( 39 ) Asthma
( 2 ) Brittle Asthma
( 7 ) Ataxia (undefined)
( 2 ) Acute Cerebellar Ataxia Zappert's Syndrome
( 10 ) Cerebellar Ataxia
( 3 ) Cerebral Ataxia Idiopathic Cerebellar Ataxia
( 0 ) Episodic Ataxia
( 7 ) Friedreich's Ataxia Spinocerebellar Degeneration,Recessive spinocerebellar degeneration
( 0 ) Recessive Spinocerebellar Degeneration
( 0 ) Spinal Cerebral Ataxia
( 3 ) Spinocerebellar Ataxia
( 0 ) Zappert's Syndrome
( 3 ) Ataxia with Oculomotor Apraxia
( 1 ) Ataxia-Telangiectasia Louis Bar Syndrome
( 215 ) 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
( 462 ) 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
( 4 ) Avascular Necrosis Osteonecrosis
( 3 ) Back Pain
( 2 ) Baller-Gerold Syndrome craniosynostosis-radial aplasia syndrome
( 6 ) 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
( 8 ) 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
( 8 ) Beckwith-Wiedemann Syndrome Neonatal hypoglycaemia, visceromegaly, hemihypertrophy,Exomphalos-Macroglossia-Gigantism
( 23 ) 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
( 14 ) Benign Paroxysmal Torticollis in Infancy
( 0 ) Traumatic Birth
( 0 ) Bernard-Soulier Syndrome
( 2 ) 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
( 4 ) Vesico-ureteral Reflux
( 4 ) Bladder Exstrophy exstrophy epispadias complex
( 2 ) Cloacal Exstrophy
( 0 ) Ectopic Bladder
( 0 ) Ectopica Vesicae
( 1 ) Epispadias
( 0 ) Epispadias (Female)
( 0 ) Vesico Intestinal Fissure
( 3 ) Blood Disorders
( 0 ) Anti K Antibodies
( 0 ) Eosinophilia
( 0 ) Essential Thrombocythemia
( 0 ) Factor II Deficiency
( 6 ) 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
( 2 ) Protein S Deficiency
( 0 ) Rhesus Incompatibility Haemolytic Disease of the Newborn
( 0 ) Thrombocythemia
( 2 ) Thrombocytopenia
( 0 ) Thrombocytosis
( 1 ) Thrombophilia
( 1 ) Bloom Syndrome Bloom-Torre-Mackacek
( 7 ) Blount Barber Syndrome Blounts Disease;Tibia vara
( 1 ) Bone Disorders
( 2 ) Fibrous Dysplasia
( 4 ) 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
( 2 ) BPES Blepharophimosis Syndrome,Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome
( 5 ) Brain Disorders (inc Head Injury)
( 16 ) Benign Intracranial Hypertension Pseudotumour Cerebri; Idiopathic Intracranial Hypertension
( 2 ) Brain Aneurysm
( 2 ) Brain Cysts Arachnoid Cysts;Periventricular Cysts
( 30 ) 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
( 1 ) Cerebral Infarct
( 0 ) Cerebral Malacoplakia
( 0 ) Cleft Split of Cerebellum
( 7 ) Head Injuries
( 1 ) Hypopthalamic Dysfunction
( 4 ) Hypoxic Brain Damage
( 0 ) Organic Brain Dysfunction
( 0 ) Pallidol Degeneration
( 1 ) Vein of Galen Malformation
( 8 ) Ventriculomegaly
( 0 ) Branchial Cleft Cyst
( 2 ) Branchio-Oculo-Facial Syndrome
( 2 ) Branchio-Oto-Renal Syndrome
( 2 ) Breath Holding
( 12 ) Brittle Bone Diseases Osteogenesis Imperfecta
( 1 ) Dentinogenesis Imperfecta
( 7 ) Osteogenesis Imperfecta
( 1 ) Sacrococcygeal Teratoma
( 0 ) Brody disease Brody Myopathy
( 3 ) Broncho Pulmonary Dysplasia BPD
( 1 ) Brown-Vialetto-Van-Laere Syndrome
( 0 ) Buerger Disease Occlusive Peripheral Vascular Disease,Thromboangiitis Obliterans
( 9 ) 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
( 2 ) Cancer
( 0 ) Asbestosis
( 0 ) Branchial Cleft Carcinoma
( 0 ) Cervical Cancer
( 10 ) Chromosome 14 Disorder
( 0 ) Cylindroma Adenoid Cystic Carcinoma
( 0 ) Ependymoma Tumour
( 0 ) Ewing's Sarcoma
( 0 ) Fibrosarcoma
( 0 ) Gastric Teratoma Tumour
( 0 ) Medulloepithelioma Diktyoma
( 0 ) Mycosis Fungoides
( 0 ) Paraganglioma
( 0 ) Paraneoplastic Syndrome
( 0 ) Pleuro-pulmonary blastoma
( 0 ) Rhabdosarcoma
( 0 ) Secretin Adrenal Carcinoma
( 0 ) Soft Tissue Sarcoma
( 0 ) Testicular Cancer
( 0 ) Turcot syndrome
( 0 ) Cantu Syndrome Hypertrichotic Oseochondrodysplasia
( 4 ) Cardiofaciocutaneous Syndrome CFC Syndrome
( 4 ) 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
( 1 ) Cat Eye Syndrome
( 6 ) Catel-Manzke Syndrome Pierre Robin Syndrome with Hyperphalangy & Clinodactyly
( 6 ) Caudal Regression Syndrome Mermaid Syndrome;Caudal Dysplasia;Caudal Dysgenesis
( 0 ) Cavernous Haemangioma Cavernoma
( 0 ) CDK L5 Disorders
( 0 ) Cellulitis
( 2 ) Central Auditory Processing Disorder
( 0 ) Cephalic Disorders Acephaly;Colpocephaly;Exencephaly;Micrencephaly;Octocephaly;Iniencephaly
( 0 ) Megalencephaly Macrencephaly
( 8 ) Schizencephaly
( 9 ) Cerebral Atrophy
( 227 ) Cerebral Palsy
( 7 ) Cerebrocostomandibular Syndrome Smith-Theiler-Schachenmann Syndrome;CCM Syndrome; CCMS;Rib Gap Defects with Micrognathia
( 0 ) Channelopathies
( 23 ) Charcot-Marie-Tooth Disease Motor & Sensory Neuropathy,Hereditary Motor & Sensory Neuropathy,Peroneal Muscular Dystrophy,Peroneal Muscular Atrophy,CMT,Congenital Axonal Neuropathy
( 3 ) Dejerine Sottas Disease Progressive Hypertropic Interstitial Polyneuropathy
( 8 ) 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
( 20 ) Chromosome Disorders
( 11 ) Chromosome 1 Disorder
( 4 ) Chromosome 10 Disorder
( 1 ) Chromosome 11 Disorder
( 13 ) Chromosome 12 Disorder
( 0 ) Chromosome 13 Disorder
( 9 ) Chromosome 15 Disorder
( 0 ) Chromosome 16 Disorder
( 13 ) Chromosome 17 Disorder
( 1 ) Chromosome 19 Disorder
( 4 ) Chromosome 2 Disorder
( 3 ) Chromosome 20 Disorder
( 3 ) Chromosome 21 Disorder
( 2 ) Chromosome 22 Disorder
( 3 ) Chromosome 3 Disorder
( 4 ) Chromosome 4 Disorder
( 5 ) Chromosome 5 Disorder
( 4 ) Chromosome 6 Disorder
( 1 ) Chromosome 7 Disorder
( 8 ) Chromosome 8 Disorder Chromosome Disorders, Tetrasomy 8p
( 3 ) 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
( 9 ) De Grouchy Syndrome II 18q- syndrome; 18q deletion syndrome;chromosome 18q;del(18q) syndrome;deletion 18q syndrome;monosomy 18q;partial monosomy 18q
( 0 ) De La Chappelle syndrome XX Male syndrome
( 9 ) isodicentric 15 idic(15)
( 0 ) L1cam mutation L1 Syndrome; L1 Spectrum; L1 Disease. Includes: X-linked Hydrocephalus with Stenosis of the Aqueduct of Sylvius (HSAS; Aqueductal Stenosis; X-linked); MASA Syndrome (Mental Retardation; Adducted Thumbs; Shuffling Gait; and Aphasia); SPG1 (X-Linked Comp
( 28 ) Monosomy 1p36 deletion syndrome
( 0 ) Mosaic Variegated Aneuploidy
( 0 ) Penta X Syndrome XXXXX Syndrome
( 0 ) Ring Chromosome 18
( 1 ) Ring G Monosomy
( 0 ) Ring X
( 5 ) Translocations
( 2 ) Triploidy
( 0 ) Trisomy 14 Mosaic Trisomy 14,Mosaic Trisomy 14,Trisomy 14 Mosaicism Syndrome
( 0 ) Uniparental Disomy
( 13 ) XYY Syndrome Jacob's Syndrome
( 0 ) Chronic Advancing Peripheral Axonal Neuropathy
( 2 ) 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
( 8 ) Chronic Pain Syndrome
( 0 ) Chronic Partial Denervation
( 0 ) Chronic Progressive External Ophthalmoplegia
( 19 ) Cleft Lip and/or Palate Cleft Mandible
( 22 ) Cleidocranial Dysplasia Marie Sainton Syndrome;Cleidocranial Dysostosis
( 0 ) Cochlear Implants
( 3 ) Cockayne Syndrome Cockayne Neills Dwarfism
( 4 ) Coeliac Disease Sprue Syndrome;Gluten Enteropathy
( 0 ) Dermatitis Herpetiformis
( 0 ) Coffin-Lowry Syndrome
( 6 ) 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
( 23 ) 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
( 32 ) Congenital Dislocation of the Hip CDH
( 16 ) Congenital Insensitivity to Pain
( 0 ) Congenital Lymphoedema Primary Lymphoedema
( 29 ) Congenital Ocular Motor Apraxia Oculomotor Apraxia;Saccade initiation;Cogan's apraxia
( 0 ) Conn Syndrome
( 1 ) Connective Tissue Disorders
( 2 ) Cutis Laxa elastolysis
( 0 ) Mixed Connective Tissue Disease
( 0 ) Undifferentiated Connective Tissue Disease
( 22 ) Conradi-Hunermann Syndrome Chondrodysplasia Punctata (Rhizomelic Type),Rhizomelic Chondrodysplasia Punctata
( 0 ) Conversion Disorder
( 11 ) 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
( 11 ) 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)
( 2 ) Craniofrontonasal Dysplasia Craniofrontal Dysostosis
( 3 ) Craniostenosis
( 36 ) Craniosynostosis
( 3 ) Crouzon Syndrome
( 1 ) Frontal Bone Protrusion
( 2 ) Frontonasal Dysplasia Median Cleft Face Syndrome; de Meyer Syndrome
( 0 ) Oxycephaly Turricephaly
( 5 ) Pfeiffer Syndrome
( 2 ) Plagiocephaly
( 0 ) Proboscis Lateralis
( 5 ) Saethre-Chotzen Syndrome
( 4 ) Scaphocephaly
( 6 ) Trigonocephaly
( 0 ) Craniometaphyseal Dysplasia
( 15 ) Cri du Chat Syndrome Chromosome 5p,Lejeune Syndrome
( 1 ) Crohn's Disease Colitis
( 0 ) Cronkite-Canada Syndrome
( 0 ) Crosslaterality
( 0 ) Cryoglobulinaemia
( 7 ) Currarino Syndrome Currarino Triad
( 0 ) Curry-Jones Syndrome
( 13 ) Cutis Marmorata Telangiectatica Congenita Macrocephaly, Cutis Marmorata Telangiectatica Congenita
( 8 ) Cyclical Vomiting
( 0 ) Cystic Adenomatoid Malformation Type I CAM I
( 0 ) Cystic Angiomatosis
( 13 ) Cystic Fibrosis Cystic Fibrosis
( 28 ) Cystic Hygroma
( 16 ) Cytomegalovirus CMV
( 10 ) DAMP Deficits in Attention; Motor control and Perception
( 0 ) Dancing Eye Syndrome Opsoclonus-myoclonus,Kinsbourine Syndrome,Myoclonic Encephalopathy
( 20 ) Dandy Walker Syndrome
( 2 ) De Barsy Syndrome
( 3 ) Deaf Blind/Rubella Damaged Congenital Rubella Syndrome,Rubella
( 1 ) Deafblindness
( 26 ) Deafness
( 5 ) Auditory Neuropathy
( 1 ) Enlarged Vestibular Aqueduct Syndrome
( 0 ) Glue Ear
( 0 ) Otosclerosis
( 6 ) Pendred Syndrome
( 0 ) Degos Disease Kohlmeier-Degos Disease,Degos-Kohlmeier Disease,Malignant Atrophic Papulosis
( 0 ) Dementias
( 1 ) Alzheimer's Disease
( 0 ) Binswanger Disease
( 7 ) Cerebral Autosomal Dominant Arteriopathy with Subc CADASIL
( 4 ) 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
( 1 ) Dermatomyositis and Polymyositis Juvenile Dermatomyositis
( 0 ) Desbuquois Syndrome Desbuquois Dysplasia,Micromelic Dwarfism with Vertebral and Metaphyseal Abnormalities and Advanced Carpotarsal Ossification
( 0 ) Desquamative Interstitial Pneumenitis Interstitial Pneumonitis
( 4 ) Developmental Motor Co-ordination Disorder
( 1 ) Devic Disease Neuromyelitis Optica
( 19 ) 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
( 14 ) Diaphragmatic Hernia Congenital Diaphragmatic Hernia
( 7 ) Diastasis Symphysis Pubis Symphysis Pubic Dysfunction
( 2 ) Diastematomyelia
( 0 ) Diencephalic Syndrome Diencephalic Tumor of Infancy
( 0 ) Digestive Disorders
( 0 ) Diogenes Syndrome
( 0 ) Discitis
( 2 ) Disintegrative Psychosis Childhood Disintegrative Disorder,Heller Syndrome
( 1 ) Diverticulitis
( 0 ) Divry-Van Bogaert Syndrome Angiomatosis Diffuse Corticomeningeal,Bogaert- Divry Syndrome
( 4 ) Donnai-Barrow Syndrome
( 0 ) Door Syndrome
( 91 ) Down's Syndrome Trisomy 21,Chromosome 21 Trisomy, downs
( 2 ) Mosaic Down's Syndrome
( 21 ) Down's Syndrome with Heart Defect downs with heart defect
( 0 ) Drugs (adverse reactions) Tetracyclene (adverse reaction)
( 0 ) Drusen Disease
( 8 ) Duane Retraction Syndrome Duane Syndrome;DRS
( 3 ) Dubowitz Syndrome
( 30 ) 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
( 9 ) Dyskeratosis Congenita
( 24 ) Dyslexia
( 0 ) Dysosteosclerosis
( 0 ) Dysphasia
( 0 ) Dysplasia Epiphysealis Hemimelica Trevor Disease
( 116 ) Dyspraxia Motor Learning Difficulty,Clumsy Child Syndrome,Bilateral Integration
( 13 ) Dystonia
( 0 ) Abdominal Wall Dystonia
( 0 ) Belly Dancer Diskinesia
( 10 ) 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
( 3 ) Spasmodic Dysphonia
( 3 ) Spasmodic Torticollis
( 0 ) Torsion Dystonia
( 0 ) Torticollis
( 0 ) Eagle Syndrome
( 0 ) Ear Nose and Throat Disorders
( 3 ) Choanal Atresia
( 0 ) Cholesteatoma
( 0 ) Labyrinthitis
( 0 ) Otitis Media
( 0 ) Pschogenic cough
( 2 ) Sinusitis Concha Bullosa
( 4 ) Eating Disorders
( 2 ) Anorexia Nervosa
( 1 ) Bulimia Nervosa
( 6 ) 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
( 6 ) Eczema Ectopic Eczema
( 3 ) Atopic Eczema
( 28 ) Edward's Syndrome Trisomy 18,Chromosome 18 Trisomy (18 + Syndrome)
( 33 ) Ehlers-Danlos Syndrome Cutis Hyperelastica,Arthrochalasis-Multiplex Congenita,EDS
( 0 ) Elliptocytosis
( 1 ) Ellis-Van Crevald Syndrome Chondroectodermal Dysplasia
( 11 ) Encephalitis Viral Encephalitis
( 21 ) Acute Disseminated Encephalomyelitis ADEM
( 1 ) Hashimoto Encephalitis
( 5 ) Herpes Encephalitis
( 0 ) Meningoencephalomyelitis
( 1 ) Mycoplasm Encephalitis
( 13 ) Rasmussens Encephalitis
( 1 ) Encephalocraniocutaneous Lipomatosis
( 1 ) Endocardial Fibroelastosis
( 1 ) Endometriosis
( 0 ) Enterovirus Non-polio Enterovirus
( 16 ) Eosinophilic Colitis
( 3 ) Eosinophilic Gastroenteritis
( 2 ) Epidermal Naevus Syndrome
( 2 ) Epidermolysis Bullosa EB Simplex
( 1 ) Dystrophic EB
( 0 ) Junctional Epidermolysis Bullosa Junctional EB
( 0 ) Epiglottitis Supraglottisis
( 126 ) Epilepsy Spinal Myoclonus,Unverricht Lundborg
( 1 ) Benign Neonatal Familial Convulsions
( 5 ) Benign Paroxysmal Tonic Upward Gaze
( 14 ) Dravet Syndrome
( 3 ) Electrical Status Epilepticus of Slow Wave Sleep ESES
( 0 ) Gelastic Epilepsy
( 0 ) Hypsarrhythmia
( 0 ) Jacksonian Seizures
( 0 ) Ketogenic Diet
( 4 ) Myoclonic Astatic Epilepsy Doose Syndrome
( 20 ) Myoclonic Epilepsy
( 10 ) Ohtahara Syndrome Early Infantile Epileptic Encephalopathy,EIEE
( 0 ) Panayiotopoulos syndrome early-onset benign partial epilepsy with occipital paroxysms
( 0 ) Ramsay Hunt Syndrome Baltic Myoclonus, Unverricht-Lundborg Syndrome, Unverricht-Lundborg Disease,Unverricht Lundborg
( 0 ) Rolandic Epilepsy
( 13 ) Severe Infantile Myoclonic Epilepsy
( 14 ) Temporal Lobe Epilepsy
( 1 ) Todd's Paralysis
( 0 ) Epstein Barr Virus
( 5 ) Erb's Palsy Klumpke's Paralysis,Brachial Plexus paralysis
( 3 ) 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
( 19 ) Failure to Thrive
( 1 ) Familial Dysautonomia
( 0 ) Familial Hyperlipidaemia Familial Hypercholesterolaemia,Familial Hypertriglyceridaemia,FCH,Hyperlipidaemia,Familial Combined Hyperlipidaemia
( 0 ) Familial Hyperlipidaemias Hypercholesterolaemia
( 2 ) Familial Mediterranean Fever Siegal-Cattan-Mamou Syndrome
( 3 ) Familial Spastic Paraplegia Struempel Disease,Hereditary Spastic Paraplegia,Spastic Diplegia,Spastic Paraparesis,Spastic Paraplegia
( 4 ) Fanconi's Anaemia Aplastic Anaemia - Congenital,Congenital Aplastic Anaemia
( 0 ) Fatal Familial Insomnia
( 0 ) Fatty Acid Oxidation Disorders
( 1 ) Fazio-Londe Syndrome Progressive Bulbar Paralysis
( 2 ) Febrile Convulsions
( 0 ) Femur-Fibula-Ulna Syndrome
( 0 ) Fetal Abnormalities
( 0 ) Benzodiazepines in Pregnancy
( 24 ) Fetal Alcohol Syndrome
( 30 ) 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
( 14 ) Fibromyalgia
( 0 ) Fibrosing Alveolitis
( 0 ) Filipi Syndrome
( 0 ) Filippi Syndrome
( 0 ) Fine Lubinsky Syndrome
( 1 ) Finlay-Marks Syndrome
( 8 ) Floating-Harbor Syndrome
( 0 ) Forestier's Disease Diffuse Ideopathic Skeletal Hyperostosis
( 30 ) Fragile X Syndrome Fraxe Syndrome
( 1 ) 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
( 1 ) Reflux Oesophagitis Barrett's Oesophagus
( 20 ) Gastrostomy
( 1 ) Gaucher Disease Familial splenic anaemia,Cerobroside Lipidosis
( 1 ) Geleophysic Dysplasia
( 2 ) Gender Identity Problems
( 1 ) Geographic Tongue
( 2 ) Geroderma Osteodysplastica Bamatter
( 0 ) Gerstmann Syndrome
( 0 ) Gianotti-Crosti Syndrome
( 7 ) Gillespie Syndrome
( 0 ) Glycogen Storage Disease Tarui Type VII Glycogenesis,Von Gierke
( 0 ) Cori Type III Glycogenosis
( 0 ) McArdle disease
( 1 ) Pompe Disease
( 0 ) Tarui disease
( 0 ) Von Gierke disease
( 0 ) Goldberg Shprinzten syndrome GOSHS; HSCR cleft palate-mental retardation; Goldberg-Shprinzten megacolon syndrome.
( 22 ) Goldenhar Syndrome Oculo-Auricular Verterbral Syndrome,Oculo Auriculo Verebral Dysplasia,Hemifacial Microsomia,First and Second Branchial Arch Syndrome,Facioauriculovertebral Spectrum,Auriculo-oculo-vertebral-Syndrome
( 16 ) Goltz Syndrome Focal Dermal Hypoplasia
( 0 ) Gonadal Dysgenesis XX Type
( 1 ) Gorham Syndrome
( 2 ) Gorlin Syndrome Basal Cell Naevus Syndrome
( 0 ) Greig Syndrome Optic Hypertelorism
( 1 ) Griscelli Syndrome
( 0 ) Group A Streptococcus
( 0 ) Group B Streptococcus
( 3 ) Growth Disorders
( 1 ) Gigantism
( 3 ) Premature Sexual Maturation Precocious Puberty
( 21 ) Silver-Russell Syndrome Asymmetry Dwarfism,Russell-Silver Syndrome,Silver's,Russell,Silver
( 27 ) Sotos Syndrome Cerebral Gigantism in Childhood
( 12 ) Growth Hormone Deficiency Multipituitary Hormone Deficiency
( 0 ) Guillain-Barré Syndrome Chronic / Acute Inflammatory Polyneuropathy; Guillain Barre Syndrome
( 0 ) Acute Inflammatory Polyneuropathy
( 0 ) Miller-Fisher Syndrome
( 0 ) Gulf War Syndrome
( 0 ) Gut Fermentation Syndrome
( 10 ) Gut Motility Disorders Intractable Vomiting,Severe Constipation
( 3 ) Chronic Intestinal Pseudo Obstruction
( 39 ) Gastro-oesophageal Reflux
( 0 ) Gastroparesis Delayed gastric emptying
( 33 ) Hirschsprung Disease
( 4 ) Hollow Visceral Myopathy
( 0 ) Hypogangliosis
( 1 ) Intestinal Pseudo Obstruction
( 3 ) Megacystis-microcolon-intestinal Hypoperistalis Sy
( 0 ) Microvillus Atrophy
( 0 ) Oesophagael dysmotility Esophageal Motility disorders, esophageal dysmotility
( 0 ) Oesophageal dysmotility Esophageal Motility disorders; esophageal dysmotility
( 0 ) Partial Villus Atrophy
( 1 ) Protein Losing Enteropathy
( 0 ) Rectal Prolapse
( 1 ) Gynecomastia
( 1 ) Haemangioma Optic Nerve Haemangioma,Kasabach-Merrit Syndrome,Haemangio-endothelioma,Haemangio Lymphantioma,Cavernous Haemangioma
( 0 ) Haemochromatosis
( 0 ) Haemolytic Uraemic Syndrome E Coli Infection
( 0 ) Atypical Haemolytic Uraemic Syndrome
( 1 ) Haemophilia Platelet Function Defect,Von Willibrand Disease,Coagulation Defects
( 1 ) Christmas Disease
( 2 ) Haemophilia A
( 1 ) Von Willebrand Disease
( 0 ) Haemorrhagic Disease of the newborn
( 0 ) Haemorrhagic Shock Encephalopathy Syndrome HSES
( 0 ) Haemorrhoids
( 7 ) Hajdu-Cheney Syndrome Arthrodentoosteodysplasia,Cheney Syndrome,Acrosteolysis with oesteoporosis and changes in skull and mandible
( 0 ) Hallermann-Strieff Francois Syndrome
( 0 ) Hanhart Syndrome
( 0 ) Hardcastle Syndrome Diaphyseal Medullary Stenosis with Malignant Fibrous Histiocytoma
( 1 ) Heart and Heart/Lung Transplant
( 30 ) Heart Defects
( 0 ) Angina
( 0 ) Aortic-Left Ventricular Tunnel Aorto Left Ventricular Tunnel; ALVT; aortico-left ventricular tunnel
( 0 ) Arrhythmia
( 0 ) Arterial Tortuosity Syndrome
( 3 ) Atrial Septal Defect
( 0 ) Barlow Syndrome
( 0 ) Bicuspid Aortic Valve Disorder BAVD
( 1 ) Brugada Syndrome
( 3 ) Coarctation of the Aorta
( 0 ) Diverticulum of the Left Ventrical
( 0 ) Dressler Syndrome
( 2 ) Ebstein Anomaly
( 0 ) Eisenmenger Complex
( 16 ) Fallot's Tetralogy
( 0 ) LGL
( 2 ) Long QT Syndrome Jervell-Lange-Nielsen Syndrome,Romano-Ward Syndrome
( 0 ) Lown-Ganong-Levene Syndrome
( 1 ) Mitral Valve Prolapse Syndrome Barlow Syndrome
( 0 ) Mitral Valve Stenosis
( 0 ) Myocarditis
( 4 ) Pulmonary Stenosis
( 0 ) Pulmonary Vein Stenosis
( 0 ) Purkinje Cell Hamartoma Histiocytoid Cardiomyopathy
( 0 ) Shone Syndrome
( 0 ) Single Ventricle Cardiac Disorders
( 2 ) Sub Aortic Stenosis
( 2 ) Truncus Arteriosus
( 0 ) Hecht Syndrome
( 7 ) Hemihypertrophy
( 9 ) Hemimegalencephaly Linear Nevus Sebaceous Syndrome,HME
( 1 ) Hemiparesis
( 32 ) Hemiplegia
( 1 ) Hennekam Syndrome
( 44 ) Henoch Schonlein Purpura HSP,Henoch-Schonlein Purpura
( 5 ) Hereditary Haemorrhagic Telangiectasia Telangiectasia,Haemorrhagic Telangectasia,HHT,Rendu-Osler-Weber Syndrome,Osler-Rendu-Weber Syndrome
( 4 ) Hereditary Multiple Exostoses
( 0 ) Hermaphroditism
( 2 ) Hernias Diaphragmatic Hernia + Blockage,Rectus Abdominus Hernia
( 0 ) Herpes Simplex Virus
( 0 ) Genital Herpes Simplex
( 0 ) Hinman Syndrome
( 0 ) Hippocampus Sclerosis
( 0 ) Hirayama syndrome Benign Focal Amyotrophy, Hirayama Syndrome, Juvenile muscular atrophy of the distal upper extremity, Monomelic Amyotrophy
( 1 ) Histiocytosis Hand-Schuller-Christian Disease,Familial Erythrophagocytic Lymphohistiocytosis
( 2 ) Eosinophilic Granuloma
( 0 ) Haemophagocytic Lymphohistiocytosis
( 4 ) Langerhan's Cell Histiocytosis
( 0 ) Letterer-Siwe Disese
( 0 ) Malignant Histiocytosis
( 0 ) Rosai-Dorfman Disease
( 0 ) Sinus-Histiocytosis with Massive Lymphadenopathy
( 0 ) HIV Infection and AIDS AIDS,HIV
( 0 ) Hoffmann Syndrome Hypothyroid Myopathy
( 22 ) Holoprosencephaly Semilobar Holoprosencephaly,Semilobar Holoprosencephaly
( 17 ) Holt-Oram Syndrome Atriodigital dysplasia
( 1 ) Hopkins syndrome
( 0 ) Horner Syndrome
( 2 ) Hoyeraal-Hreidarsson Syndrome
( 0 ) HTLV-1 associated Myelopathy Jamaican Myelopathy,HAN-TSP,Tropical Spastic Paraparesis
( 2 ) Huntington's Disease Huntington's Chorea
( 0 ) Hydatidiform Mole
( 1 ) Hydranencephaly
( 0 ) Hydroa Vaccininforme
( 87 ) Hydrocephalus Normal Pressure Hydrocephalus (adult onset)
( 0 ) Hydromyelia
( 4 ) Hydronephrosis
( 4 ) Hyperactivity Hyperkinetic Disorder,Hyperkinesis
( 1 ) Hyperacusis
( 14 ) Hyperekplexia Startle Disease/Syndrome,Stiff Baby Syndrome
( 0 ) Hyperhidrosis
( 0 ) Hyperlipidaemia
( 81 ) Hypermobility Syndrome Hyperlaxity Syndrome
( 0 ) Hypertension
( 1 ) Hypoglycaemia (Non-diabetic)
( 0 ) Hypohydrosis
( 0 ) Hypomagnesemia
( 0 ) Familial hypomagnesemia with hypercalciuria and nephrocalcinosis Famililal Hypomagnesemia-Hypocalcemia; Famililal Hypomagnesemia-Calciuria; FHHNC; Manz syndrome
( 9 ) Hypomelanosis of Ito Incontinentia Pigmenti Achromans
( 8 ) Hypospadias
( 0 ) Hyposperda
( 77 ) Hypotonia Benign Congenital Hypotonia,Amyotonia Congenita
( 5 ) Ichthyosis
( 2 ) Bullouos Ichthyosiform Erythroderma
( 0 ) Bullous Ichthyosis
( 0 ) Collodian Baby
( 1 ) Harlequin Ichthyosis
( 0 ) Ichthyosis Erythroderma
( 0 ) Ichthyosis Lamellar
( 1 ) Ichthyosis Vulgaris
( 8 ) Netherton Syndrome
( 0 ) Non- Bullouos Ichthyosiform Erythroderma
( 1 ) Non-Bullous Ichthyosiform Erythroderma
( 2 ) Sjögren Larsson Syndrome Sjogren Larsson Syndrome
( 0 ) X-linked Ichthyosis
( 0 ) Idiopathic Inflammatory Myopathies
( 0 ) Inclusion Body Myositis inflammatory myopathy
( 0 ) Idiopathic Nail Atrophy
( 0 ) Idiopathic Scrotal Oedema
( 0 ) Immune (Idiopathic) Thrombocytopenic Purpura D Idiopathic Thrombocytopenia Purpura,ITP
( 2 ) Immune Disorders
( 5 ) APECED Syndrome
( 0 ) Autoimmune Inflammatory Disease
( 3 ) Autoimmune Polyendocrinopathy-Candidiasis-Ectoderm
( 0 ) Autoimmune Proliferative Syndrome
( 0 ) AutoimmuneVasculitis with Cryoglobulinaemia
( 3 ) Incontinence Urge Incontinence,Encopresis,Detrusor Instability,Enuresis
( 16 ) Incontinentia Pigmenti Block-Sulzberger Syndrome
( 0 ) Infantile Systemic Hyalinosis
( 7 ) Intestinal Conditions Protein leakage from Bowel,Neurogenic Bladder
( 4 ) Anal Atresia
( 4 ) Anal Stenosis
( 4 ) Anterior Anus with Vestibular Fistula
( 0 ) Brown Bowel Syndrome
( 0 ) Chronic Gastritis
( 4 ) Colostomy
( 0 ) Fowler Syndrome Idiopathic voiding dysfunction and retention
( 2 ) Ileostomy
( 43 ) Imperforate Anus
( 0 ) Intestinal Atresia
( 0 ) Jejeunal Atresia
( 0 ) Lymphoid Nodular Hyperplasia
( 1 ) Neurointestinal Dysplasia
( 0 ) Neuronal Dysplasia
( 4 ) Non Functional Bowel
( 1 ) Organo-Axial Malrotation of the Stomach
( 2 ) Stomas
( 9 ) Intestinal Lymphangiectasia
( 0 ) Intra Cerebral Whipples Disease
( 0 ) Intussuception
( 0 ) Ion Channel Disorder Calcium Ion Channel Disorder
( 6 ) Irritable Bowel Syndrome
( 6 ) Isaac Syndrome Neuromyotonia, Myokymia
( 1 ) Ivemark Syndrome Congenital Absence of Spleen,Right Atrial Isomersism
( 0 ) Jacobs Syndrome Arthropathy-Campodactyly Syndrome
( 8 ) Jacobsen Syndrome 11q- syndrome
( 1 ) Jaffe-Lichtenstein-Sutro Syndrome Pigmented Villonodular synovitis
( 0 ) Jansen Syndrome
( 8 ) Jarcho-Levin Syndrome Spondylo Thoracic Dysplasia
( 16 ) Jessner's Lymphocytic infiltration of the skin
( 0 ) Jeune Syndrome Asphyxiating Thoracic Dysplasia,Jeune Thoracic Dysplasia,Asphyxiating Thoracic Dystrophy,Jeune Thoracic Dystrophy
( 8 ) Johanson-Blizzard Syndrome
( 17 ) Joubert Syndrome Familial Cerebellar Vermis Agenesis
( 2 ) Juvenile Hyaline Fibromatosis Systemic Juvenile Hyalinosis
( 3 ) Juvenile Osteoporosis Osteoporosis
( 2 ) Juvenile Respiratory / Laryngeal Papilomatosis Papilloma
( 2 ) Juvenile Retinoschisis
( 36 ) Kabuki Syndrome Kabuki-Make Up Syndrome
( 0 ) Kapur-Toriello Syndrome
( 0 ) Kaufman Oculocerebral Facial Syndrome Kaufman Syndrome
( 0 ) Kaufman-Mckusick Syndrome
( 0 ) Kawasaki Disease Mucocutaneous Lymph Node Syndrome
( 2 ) KBG Syndrome
( 2 ) Kernicterus Bilirubin Encephalopathy
( 0 ) KID Syndrome Keratitis-Ichthyosis-Deafness
( 7 ) Kidney Disease
( 0 ) Angiomyolipoma
( 0 ) Bright's Disease Acute Glomerulonephritis
( 1 ) Chloride Shunt Syndrome Gordon Syndrome;Pseudohypoaldosteronism
( 0 ) Chronic Glomerulonephritis
( 1 ) Congenital Horseshoe Kidney
( 0 ) Dent's Disease
( 0 ) Drash Syndrome Denys-Drash Syndrome
( 5 ) Focal segmental Glomerulosclerosis
( 6 ) Gitelman Syndrome
( 0 ) Goodpasture Syndrome Ceelen-Cellerstedt Syndrome
( 1 ) Haematuria
( 1 ) IgA Nephropathy Berger Syndrome
( 0 ) Juvenile Bnephronophthisis
( 1 ) Juvenile Nephronophthisis
( 4 ) Kidney Dysplasia
( 0 ) Liddle Syndrome
( 0 ) Medullary Sponge Kidney
( 0 ) Mesangiocapillary Glomerulonephritis
( 6 ) Multicystic Dysplastic Kidney
( 0 ) Nephrocalcinosis
( 26 ) Nephrotic Syndrome Nephrosis
( 0 ) Polycystic Kidney
( 1 ) Potter Syndrome Oligohydramnios
( 3 ) Renal Dysplasia
( 0 ) 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
( 2 ) Klein-Levin Syndrome
( 11 ) Klinefelter Syndrome XXXXY Syndrome,XXY Syndrome
( 35 ) Klippel-Feil Syndrome Congenital Osseous-torticollis,MURCS Associations,Brevicollis,Congenital Cervico-thoracic Vertebrae Synostosis
( 10 ) Klippel-Trenaunay Syndrome Parkes-Weber Syndrome,Angio Osteohypertrophy
( 1 ) Kluver-Bucy syndrome
( 0 ) Knobloch Syndrome
( 0 ) Labial Fusion
( 0 ) Lacrimation Failure
( 3 ) LADD Syndrome Lacrimo-Auriculo-Dento-Digital Syndrome
( 0 ) Lafora Body Disease Myoclonic Progressive Familial Epilepsy
( 2 ) Lance Adams Syndrome
( 11 ) Landau-Kleffner Syndrome
( 3 ) Langer Mesomelic Dysplasia
( 7 ) Langer-Giedion Syndrome Trichorhinophalangeal Syndrome Type 2
( 12 ) Larsen Syndrome
( 10 ) Laryngeal Cleft Laryngotracheoesophageal Cleft
( 2 ) Laryngeal Web
( 0 ) Lazy Leucocyte Syndrome
( 49 ) Learning Disability
( 96 ) Developmental Delay
( 183 ) Global Developmental Delay
( 2 ) Mental Handicap
( 21 ) Leber's Congenital Amaurosis Leber Amaurosis
( 2 ) Leber's Optic Neuropathy Leber's Optic Atrophy,Leber Hereditary Optic Atrophy,Leber Optic Atrophy
( 0 ) Leiner Syndrome Erythroderma Desquamatirum
( 27 ) Lennox-Gastaut Syndrome
( 6 ) Leopard Syndrome Multiple Lentignes Syndrome
( 0 ) Leprechaunism
( 0 ) Leptin Deficiency
( 2 ) Leukaemia Chronic Myelomonocytic Leukaemia,CMML
( 1 ) Myelodysplastic Syndrome
( 0 ) Leukopaenia
( 0 ) Leydig Cell Aplasia
( 5 ) Li-Fraumeni Syndrome
( 0 ) Lichen Planus Hallopeau's 1
( 0 ) Lichen Sclerosus Lichen Sclerosus et Atrophicus
( 3 ) Limb Abnormalities
( 0 ) Amputation
( 29 ) Congenital Macrodactyly
( 14 ) Lower Limb Abnormalities Hip Dysplasia,Multiple Epiphyseal,Dysplasia
( 4 ) Upper Limb Abnormalities
( 13 ) Lissencephaly ILS
( 0 ) Agyria
( 0 ) Cerebro-Oculo-Muscular Dystrophy
( 0 ) Fukuyama Congenital Muscular Dystrophy
( 2 ) Heterotopia
( 1 ) Isolated Lissencephaly Sequence
( 0 ) Isotretinoin Embryopathy
( 0 ) Microgyria
( 2 ) Miller Dieker Syndrome
( 0 ) Muscle Eye Brain Disease MEB, Santavuori's syndrome
( 3 ) Norman Roberts Syndrome
( 9 ) Polymicrogyria
( 0 ) Walker-Warburg Syndrome
( 0 ) Listeriosis
( 0 ) Little Disease
( 2 ) Liver Disease Obstetric Cholestasis,Hyperbilirubinaemia,Wilson Disease
( 1 ) Alagille Syndrome Alagille-Watson Syndrome,Arteriohepatic Dysplasia,Cardiovertebral Syndrome,Watson-Miller Syndrome
( 1 ) Alpha 1 - Antitrypsin Deficiency (Paediatric)
( 2 ) Biliary Atresia
( 0 ) 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
( 0 ) Loin Pain Hematuria
( 1 ) Loken-Senior Syndrome
( 1 ) Lordosis
( 1 ) Lowe Syndrome Oculocerebrorenal Syndrome
( 0 ) Lowry-Wood Syndrome
( 1 ) Lujan-Fryns Syndrome X-Linked Mental Retardation-Marfinoid Habitus Syndrome
( 0 ) Lung Cysts Cystic Lung Syndrome
( 3 ) Lung Diseases Spontanous Pneumothorax,Pulmonary Fibrosis
( 0 ) Alpha 1 - Antitrypsin Deficiency (Adult)
( 0 ) Alveolar Capillary Dysplasia
( 5 ) Bronchial Malacia
( 2 ) Bronchiectasis
( 2 ) Bronchiolitis Obliterans
( 0 ) Chronic Eosinophilic Pneumonia
( 1 ) Chronic Obstructive Pulmonary Disease COPD
( 22 ) Congenital Cystic Adenomatoid Malformation CCAM
( 7 ) Congenital Lobar Emphysema
( 4 ) Congenital Pulmonary Lymphangiectasia Pulmonary Lymphangiectasia
( 3 ) Idiopathic Pulmonary Haemosiderosis
( 0 ) Lymphangioleiomyomatosis
( 0 ) Macleod Syndrome
( 0 ) Plastic Bronchitis
( 0 ) Pneumonia
( 0 ) Pulmonary Alveoli Mocroliathiasis Harbitz
( 2 ) Pulmonary Haemosiderosis
( 1 ) Pulmonary Hypoplasia
( 0 ) Respiratory Synctial Virus RS-Virus
( 0 ) Severe Acute Respiratory Syndrome SARS
( 5 ) Stridor
( 0 ) Tuberculosis
( 4 ) Lupus SLE,Systemic Lupus Erythematosis
( 0 ) Lyme Disease
( 2 ) Lymophoedema Nonne-Milroy-Meige Syndrome;Milroy's
( 9 ) Lymphangioma Lymphangioma of Abdomen,Lymphangioma of Tongue
( 7 ) Lymphangiomatosis of the Bone
( 0 ) Lymphoedema Microcephaly and Chorioretinopathy
( 0 ) Lymphoma
( 1 ) Cystic Lymphoma
( 0 ) Hodgkin's Disease NHL
( 0 ) Non-Hodgkin's Lymphoma
( 0 ) Subcutaneous T-cell Lymphoma
( 7 ) Macrocephaly Benign Familial Macrocephaly,Familial Macrocephaly
( 22 ) Macrocephaly - Cutis Marmorata Telangiectatica Congenita M-CMTC
( 9 ) Madelungs Deformity
( 2 ) Maffucci Syndrome
( 0 ) Mainzer-Salidino Retinal Dysplasia
( 0 ) Majewski Syndrome
( 0 ) Mal de Debarquement Syndrome
( 2 ) Malignant Hyperthermia Malignant Hyperpyrexia
( 0 ) Malpuech Facial Clefting Syndrome Malpuech Syndrome
( 1 ) Marden-Walker Syndrome
( 5 ) Marfan Syndrome
( 0 ) Marinesco-Sjorgen Syndrome
( 0 ) Marion's Syndrome
( 0 ) Maroteaux-Spranger-Wiedemann Metatrophic Dwarfism Type I
( 0 ) Marshall Syndrome
( 3 ) Marshall-Smith Syndrome
( 0 ) Martsolf Syndrome
( 0 ) Maxillonasal Dysplasia Binder Syndrome
( 0 ) May-Hegglin Anomaly
( 0 ) Mayer-Rokintansky-Kuster-Hauser
( 17 ) McCune-Albright Syndrome Albright Syndrome,Polyostotic Fibrous Dysplasia
( 17 ) Meckel-Gruber Syndrome Meckel Syndrome
( 1 ) Medium Chain Acyl Co-Enzyme Dehydrogenase
( 0 ) Meesmann Syndrome
( 0 ) Meesmanns Syndrome
( 1 ) Megalencephaly Polymicrogyria Polydactyl Syndrome
( 0 ) Megalocornea Mental Retardation Syndrome
( 1 ) Melkersson Rosenthal Syndrome
( 0 ) Melnick-Needles Syndrome Osteodysplasy,Melnick-Needles Osteodysplasty
( 0 ) Melorheostosis
( 0 ) Menière's Disease Endolymphatic Hydrops
( 0 ) Meningioma
( 4 ) Meningitis
( 1 ) Meningococcal Septicaemia
( 2 ) Mental Health Post Natal Depression
( 13 ) Bipolar Disorder Manic Depression, Bipolar Affective disorder Bi Polar Disorder
( 1 ) Bipolar Disorder Type II Bi polar Disorder type II
( 30 ) Conduct Disorder and Oppositional Defiance Disorder
( 12 ) Depression
( 0 ) Ganser Syndrome
( 0 ) Manic Depression
( 0 ) Night Terrors
( 15 ) Obsessive Compulsive Disorder OCD
( 2 ) Othello Syndrome morbid jealousy,conjugal paranoia,erotomania,Clerambault syndrome,folie à deux,late paraphrenia
( 7 ) Pervasive Refusal Syndrome
( 0 ) Pre-Natal Depression
( 0 ) Pschosomatic Illness
( 0 ) Psychological Disorders
( 3 ) Psychosis
( 0 ) Somatising
( 0 ) Mental Retardation Aplasia Shuffling Gait and Abdu MASA Syndrome
( 5 ) Metabolic Diseases
( 0 ) 17 Ketosteroid Reductase Deficiency
( 0 ) 3 Hydroxy Acyl CoA Dehydrogenase Deficiency
( 0 ) 3 Methylglutaconic Adicuria
( 0 ) 5 Alpha Reductase Deficiency
( 10 ) Acquired Partial Lipodystrophy
( 2 ) Acrodermatitis Enteropathica
( 1 ) ACTH Deficiency Isolated ACTH Deficiency
( 0 ) Adenylosuccinate Lyase Deficiency
( 2 ) Alcaptonuria
( 0 ) Aldosteronism
( 15 ) Alpers Disease
( 0 ) Alpha Amino Adipic Aciduria
( 2 ) Alports Syndrome Alport Syndrome
( 1 ) Amyloidosis
( 0 ) Arginase Deficiency
( 6 ) Argininosuccinic Aciduria
( 0 ) Aromatic Amino Acid Decarboxylase Deficiency
( 1 ) Barth Syndrome 3 Methylglutaconic Aciduria Type II
( 3 ) Bartter Syndrome aldosteronism-normal blood pressure syndrome;Pseudo-Bartters;aldosteronism with hypokalemic alkalosis;juxtaglomerular hyperplasia syndrome
( 0 ) Berardinelli Lipodystrophy
( 1 ) Biotin Deficiency
( 1 ) Biotinidase deficiency
( 1 ) Carbohydrate Deficient Glycoprotein Syndrome
( 0 ) Carnitine
( 0 ) Cerebral Lipidosis
( 0 ) Cerebrohepatorenal
( 0 ) Cholesteryl Ester Transfer Protein Deficiency
( 0 ) Chylomocron Retention Disease
( 6 ) Citrullinaemia
( 7 ) Congenital Adrenal Hyperplasia Adrenal Hyperplasia;CAH; adrenogenital syndrome
( 1 ) Congenital Chloride Diarrhoea
( 2 ) Congenital Disorders of Glycosylation CDG,Carbohydrate Deficient Glycoprotein syndromes
( 0 ) Congenital Folate Malabsorption ICFM
( 1 ) Congenital Hyperinsulinism Persistent Hyperinsulinism Hypoglycaemia of Infancy;PHHI; Nesidioblastosis
( 1 ) Creatine Transporter Deficiency Syndrome SLC6A8 deficiency
( 0 ) Cystinosis
( 1 ) Cystinuria
( 1 ) Cytochrome C Oxidase Deficiency COX Deficiency
( 0 ) DHPR Deficiency Phenylketonuria II;Dihydropteridine Reductase Deficiency; Atypical PKU
( 0 ) Dihydropyrimidine Dehydrogenase Deficiency
( 0 ) Ethylmalonic Adipic Aciduria
( 1 ) Fanconi Syndrome
( 0 ) Fibrodysplasia Ossificans Progressiva Myositis Ossificans
( 2 ) Fish Odour Syndrome
( 3 ) Gangliosidosis GM1 and GM2
( 1 ) Glucose 6 Phosphate Dehydrogenase Deficiency
( 0 ) Glucose Galactose Malabsorption Deficiency
( 0 ) Guanadinoacetate Methyltransferase GAMT
( 0 ) Hartnup Disease Tryptophan Malabsorption
( 0 ) Hereditary Fructose Intolerance
( 0 ) Homocystinuria
( 0 ) Hyperglycinaemia
( 2 ) Hyperinsulinism Functional hypoglycaemic syndrome, hyperinsulinism syndrome, organic hyperinsulinism syndrome, Harriss Syndrome, hyperinsulinoma, reactive functional hypoglycaemia.
( 1 ) Hyperoxaluria Oxalosis
( 0 ) Hyperphosphatasia
( 0 ) Hypertriglycridaemia
( 0 ) Hypocalcaemia
( 0 ) Hypoglycaemia
( 9 ) Hypoparathyroidism
( 0 ) Hypophosphatasia
( 3 ) Hypophosphatemic Rickets VitaminResistant Rickets M
( 0 ) Idiopathic Hypoparathyroidism
( 0 ) Isolated ACTH Deficiency Isovaleric Acidaemia
( 5 ) Kearne-Sayer Disease
( 3 ) Kearns-Sayer Disease
( 23 ) Leigh's Disease
( 15 ) Leukodystrophy
( 0 ) Lipodystrophy Berardinelli Lipodystrophy,Mandibuoacral Dysplasia,MAD,Familial Partial Lipodystrophy
( 0 ) Long Chain 3 Hydrocylacyl COA Dehydrogenase defice
( 0 ) Maple Syrup Urine Disease
( 39 ) Marcus Gunn Syndrome Jaw Winking Syndrome
( 10 ) MCAD
( 1 ) Medium Chain Acyl Co-Enzyme Dehydrogenase Deficien
( 1 ) Menkes Syndrome Kinky Hair Syndrome
( 1 ) Metabolic Aciduria
( 0 ) Methionine Adenosyl Transferase
( 0 ) Methionine Synthase Deficiency
( 0 ) Methylenetetrahydrofolate Reductase Deficiency
( 1 ) Methylglutaconic Aciduria
( 2 ) Methylmalonic Aciduria
( 0 ) Mevalonic Aciduria
( 0 ) Molybdenum Cofactor Deficiency
( 0 ) Monamine Oxidase Deficiency MOAD
( 1 ) Multiple Hormone Deficiencies
( 0 ) Neualonic Aciduria
( 0 ) Neuroaxonal Dystrophy Seitelberger Disease,Infantile Neuroaxonal Dystrophy
( 0 ) Neurovisceral Storage Disease
( 1 ) Non-Ketotic Hyperglycaemia
( 0 ) Olivopontocerebellar Degeneration/Atrophy
( 0 ) Ornithinaemia
( 12 ) Ornithine Transcarbamylase Deficiency OTC
( 1 ) Oxalosis
( 0 ) Peroxisomal Defect
( 1 ) Primary Hypoparathyroidism
( 0 ) Progeria
( 0 ) Progeroid Syndrome (Neonatal)
( 3 ) Pseudo-Hypoaldosteronism
( 4 ) Pseudocholinesterase Deficiency
( 4 ) Pyridoxine Dependent Epilepsy
( 0 ) Pyridoxine Dependent Vitamin B Deficiency
( 3 ) Pyrine Autism
( 3 ) Pyruvate Dehydrogenase Complex
( 1 ) Pyruvate Dehydrogenase Deficiency
( 0 ) Pyruvate Kinase Deficiency
( 0 ) Pyruvate Kinase Deficiency Hemolytic Anemia
( 0 ) Richner-Hanhart syndrome Richner syndrome
( 0 ) Sandhoff Disease
( 0 ) Serine Deficiency
( 3 ) Serum Cholinesterase Deficiency
( 0 ) Steroid Sulphatase Deficiency
( 0 ) Sucrose Intolerance
( 6 ) Sucrose Isomaltose Enzyme Deficiency
( 1 ) Thomsen Disease
( 0 ) Transcobalamin Type II Deficiency
( 0 ) Transient Neo-Natal Hyperammonaemia
( 0 ) Trihydoxi Acyl CoA Dehydrogenase Deficiency
( 2 ) Trimethylamineuria
( 0 ) Triose Phosphate Isomerase Deficiency
( 0 ) Triosephosphate Isomerase Deficiency
( 0 ) Tumoral Calcinosis
( 1 ) Tyrosinaemia Type 1
( 3 ) Urea Cycle Disorder
( 0 ) Very Long Chain Acyl CoA Dehydrogenase Deficiency VLCAD, VLCADD
( 1 ) Vitamin B12 Uptake Deficiency
( 0 ) Vitamin D Dependent Rickets Type I
( 0 ) Weidemann Rautenstrauch Syndrome
( 0 ) Metaphyseal Acroscyphodysplasia
( 0 ) Mibellis Porokerotosis
( 80 ) Microcephaly
( 0 ) Microcephaly and Lymphoedema
( 18 ) Microtia
( 0 ) Mid-Aortic Syndrome
( 0 ) MIDAS Syndrome Microphthalmia with Linear Skin Defects, MLS, Microphthalmia, Dermal Aplasia and Sclerocornea
( 3 ) Migraine Vertebrobasilar Migraine
( 0 ) Miller Syndrome
( 1 ) Miscarriage
( 4 ) Mitchell's II Syndrome Barraquer-Simons Syndrome,Partial Lipodystrophy
( 4 ) Mitochondrial Cytopathies Pearson Syndrome,Neuropathy, Ataxia, Retinitis Pigmentosa
( 0 ) Complex 1 Deficiency
( 8 ) Kearns-Sayre Syndrome
( 2 ) Lactic Acidosis
( 1 ) MELAS Melas Syndrome
( 9 ) Mitochondrial Myopathy
( 15 ) Moebius Sequence/Syndrome
( 6 ) Momo Syndrome Macrosomia Obesity Macrocephaly Ocular Abnormality Syndrome
( 1 ) Moore-Federman Syndrome
( 0 ) Morning Glory Syndrome
( 1 ) Motor Neurone Disease Progressive Bulbar Palsy,Progressive Muscular Atrophy,Amyotrophic Lateral Sclerosis
( 0 ) Primary Lateral Sclerosis
( 0 ) Moulded Baby Syndrome
( 14 ) Mowat-Wilson Syndrome Microcephaly-Mental Retardation syndrome
( 1 ) Moya Moya Syndrome Leeds Syndrome
( 1 ) Muckle-Wells Syndrome Urticaria-Deafness-Amyloidosis Syndrome, UDA Syndrome
( 4 ) Mucopolysaccharide Diseases Mannosidosis,Sanfilippo syndome,ML II,ML IV,Multiple Sulphatese Deficiency,Morquio Disease,ML III
( 0 ) Aspartylglycosaminuria
( 1 ) Fucosidosis
( 0 ) Hunter Disease
( 1 ) Hurler Disease
( 0 ) I Cell Disease
( 0 ) Mariteaux Lamy Disease
( 1 ) Mucolipidosis
( 0 ) 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
( 0 ) Multiple Aneurysms
( 2 ) Multiple Births Siamese Twins,Twins with Special Needs
( 0 ) Multiple Endocrine Neoplasia
( 0 ) Multiple Endocrine Neoplasia (Type I)
( 0 ) Multiple Endocrine Neoplasia (Type II)
( 0 ) Multiple Haemangioma
( 0 ) Multiple Pterygum Syndrome
( 7 ) Multiple Sclerosis Encephalomyelitis Disseminated - Acute, MS
( 0 ) Multiple System Atrophy
( 0 ) Multisystem Vasculitis Disorder
( 0 ) Munchausen Syndrome
( 1 ) Muscular Dystrophy
( 2 ) Becker Muscular Dystrophy
( 9 ) Bethlem Myopathy Benign Congenital Muscular Dystrophy
( 1 ) Central Core Myopathy
( 0 ) Central Neural Myopathy
( 3 ) Congenital Fibre Type Disproportional Myopathy
( 9 ) Congenital Muscular Dystrophy Oculocerebromuscular
( 0 ) Distal Muscular Dystrophy Markesbery distal myopathy
( 0 ) Limb Girdle Muscular Dystrophy
( 0 ) Partial Paralysis
( 8 ) Ullrich Muscular Dystrophy Ullrich Disease;Ullrich Scleroatonic Muscular Dystrophy, Ullrich Congenital Muscular Dystrophy, UCMD
( 7 ) Myalgic Encephalomyelitis Chronic Fatigue Syndrome, ME , Post Viral Fatigue Syndrome, Viral Fatigue Syndrome
( 5 ) Myasthenia Gravis Lambert-Eaton Myasthenia Syndrome,Congenital Myasthenia
( 0 ) Mycobacterium Avium
( 0 ) Mycobacterium Avium Intracellulare
( 14 ) Myelin Deficiency Delayed Myelination
( 0 ) Myoclonus
( 0 ) Focal Myoclonus
( 5 ) Juvenile Myoclonic Epilepsy
( 0 ) Posthypoxic Myoclonus
( 1 ) Progressive Myoclonus Epilepsy
( 0 ) Segmental Myoclonus
( 0 ) Myokymia with Periodic Ataxia Neuromyotonia and Myokymia
( 0 ) Myoshi Myopathy
( 22 ) Myotonic Dystrophy Steinert Syndrome
( 4 ) Myotubular Myopathy Central Nuclear Myopathy
( 3 ) Nager Syndrome Acrofacial dysostosis
( 0 ) Nail Dysplasia 20 Nail DystrophyDenny
( 11 ) Nail-Patella Syndrome Turner-Kieser Syndrome,Hereditary Osteo-Onycho Dysplasia,Fong's Disease
( 0 ) Nance-Horan Syndrome
( 5 ) Narcolepsy Gelineau Syndrome
( 0 ) Narcoplexy Cataplexy
( 0 ) Near Drowning
( 6 ) Necrotising Enterocolitis
( 0 ) Necrotising Fasciitis
( 0 ) Nemaline Myopathy
( 0 ) Neonatal Abstinence Syndrome
( 1 ) Neonatal Disorders
( 5 ) Birth Trauma
( 25 ) Hypoxic Ischaemic Encephalopathy
( 2 ) Nephrogenic Diabetes Insipidus
( 0 ) Neuhauser Syndrome
( 0 ) Neuralgic Amyotrophy Parsonage Turner Syndrome
( 0 ) Neuroacanthocytosis
( 1 ) Bassen-Kornzweig syndrome Abetalipoproteinemia;Acanthocytosis; Apolipoprotein B deficiency
( 0 ) 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
( 3 ) Neuroblastoma
( 0 ) Neurocutaneous Melanosis
( 0 ) Neuroectodermal Disorder
( 43 ) Neurofibromatosis Von Recklinghausen Disease
( 0 ) Neurological Features
( 0 ) Mirror Movements
( 0 ) SUNA Short lasting unilateral neuralgiform headache attacks with cranial autonomic symptoms
( 1 ) Neuromuscular Disorders
( 0 ) Chronic Inflamatory Demyelinating Polyneuropathy Demyelination Peripheral Neuropathy
( 0 ) Davidenkow syndrome Neuropathic scapuloperoneal syndrome
( 0 ) Desmin-Related Myopathy Desminopathy
( 1 ) Hereditary Neuropathy with liability to pressure palsies
( 2 ) Hyperkalaemic Periodic Paralysis
( 0 ) 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
( 1 ) Hereditary Nodular Heterotopia Periventricular Nodular Heterotopia, Subependial Nodular Hetero
( 0 ) Neuropathic Pain Disorder
( 0 ) Neurotransmitter disease
( 0 ) GTP Cyclohydrolase 1 Deficiency Dopa-Responsive Dystonia,Dopa,Responsive
( 0 ) Succinic Semialdehyde Dehydrogonase Deficiency SSADH
( 0 ) Tyrosine Hydroxylase Deficiency
( 5 ) Nicolaides-Baraitser Syndrome SPARSE HAIR AND MENTAL RETARDATION
( 4 ) Niemann-Pick Disease Sphingomyelin Lipidosis
( 0 ) Neville Disease
( 0 ) Niemann-Pick Disease Type A
( 0 ) Nijmegan Breakage Syndrome
( 17 ) Non Verbal Learning Difficulty NLD
( 4 ) Non-Epileptic Seizures Pseudsoseizures
( 36 ) Noonan Syndrome
( 4 ) Norrie Disease Norries
( 1 ) Obesity
( 1 ) Ocular Albinism
( 0 ) Ocular Cerebral Hypopigmentation Syndrome
( 6 ) Oculo-Dento-Digital Syndrome
( 1 ) Oculocerebrocutaneous Syndrome Delleman Syndrome
( 0 ) Oesophageal Atresia
( 4 ) OHDO Syndrome
( 2 ) Okihiro Syndrome
( 37 ) Ollier's Disease Enchondromatosis
( 0 ) Olmodysplasia
( 0 ) Opercular Syndrome Foix Chavany-Marie Syndrome
( 3 ) Opitz Syndromes
( 4 ) FG Syndrome Opitz-Kaveggio syndrome;Opitz FG syndrome;Keller syndrome
( 10 ) Opitz BBB Syndrome BBB Syndrome;Opitz G Syndrome;Opitz-Frias Syndrome;dysphagia-hypospadias syndrome; hypertelorism-oesophageal abnormality; hypospadias-dysphagia syndrome.
( 0 ) Opitz-Christian Syndrome Hypertelorisim-Hypospadias,Christian-Opitz Syndrome
( 4 ) Optic Glioma
( 1 ) Optic Neuritis
( 0 ) Optic Neuromyelitis
( 3 ) Oral-Facial-Digital Syndromes OFD Syndrome,Varadi-Papp Syndrome,Mohr Syndrome,Orofaciodigital Syndrome
( 0 ) Oral-Facial-Digital Syndrome Type VI
( 0 ) Orchidoplastyy
( 1 ) Organic Acidaemias
( 0 ) 3-hydroxy-3-methylglutaric aciduria
( 1 ) 3-Hydroxy-3-methylglutaryl-CoA lyase Deficiency
( 1 ) Glutaric Acidaemia Type I
( 0 ) Glutaric Acidaemia Type II
( 0 ) Glutaric Acididura
( 0 ) L2-hydroxyglutaric aciduria
( 2 ) Propionic Acidaemia
( 1 ) Osteoitis Pubis
( 0 ) Osteomyelitis Benign Relapsing Multi-Focal Osteomyelitis
( 4 ) Chronic Recurrent Multifocal Osteomyelitis CRMO
( 7 ) Osteopathia Striata
( 0 ) Osteopetrosis Albers-Schonberg Syndrome
( 0 ) Osteopoikilosis
( 2 ) Osteoporosis
( 0 ) OTA's Syndrome Ocular Dermal Melanocytosis
( 0 ) Oto-palato-digital Syndrome
( 0 ) Otofaciocervical Syndrome
( 0 ) Pachydermoperiostosis Touraine-Solenti-GolT Syndrome
( 3 ) Pachygyria
( 0 ) Pachymyelitis
( 0 ) Paget's Disease Paget's Disease of the Bone;Paget disease
( 7 ) Pallister Killian Syndrome
( 1 ) Pallister-Hall Syndrome
( 0 ) Pancreatitis
( 1 ) Chronic Pancreatitis
( 3 ) PANDAS Paediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcal Infections
( 1 ) Paraplegia
( 0 ) Parinauds Syndrome
( 1 ) Parkinson's Disease Parkinsonism,Parkinson's Plus
( 4 ) Paroxysmal extreme pain disorder PEPD,FRP,Hayden-Grossman Syndrome; Familial rectal pain
( 0 ) Paroxysmal Nocturnal Hemoglobinurea
( 0 ) Parry-Romberg Syndrome Romberg Syndrome
( 0 ) Parvo-virus infection B19 Fifth Disease,Slapped cheek/jaw Syndrome
( 2 ) Patau Syndrome Pseudotrisomy 13,Trisomy 13,Chromosome 13 Trisomy
( 15 ) Pathological Demand Avoidance Syndrome PDA
( 0 ) Patin Syndrome
( 0 ) Patterson-Brown-Kelly Syndrome
( 0 ) Patterson-Stevenson-Fontaine-Syndrome
( 1 ) Pearson Syndrome
( 3 ) Pectus Excavatum
( 2 ) PEHO Syndrome Progressive Encephalopathy with Edema, Hypsarrythmia Optic Atrophy
( 3 ) Pelizaeus-Merzbacher Syndrome
( 0 ) Pena-Shokeir I Syndrome Fetal Akineasia Deformation Sequence
( 0 ) Pena-Shokeir II Syndrome COFS Syndrome,Cerebro-Oculo-Facio-Skeletal Syndrome
( 12 ) Pentalogy of Cantrell
( 2 ) Peripheral Neuropathy Polyneuropathy,Chronic Hereditary Polyneuropathy,Mononeuritis Multiplex
( 0 ) Andrade Syndrome Neuropathic Amyloidosis
( 0 ) Chronic Hereditary Polyneuropathy
( 0 ) Churg-Strauss Syndrome
( 0 ) Diabetic Neuropathy
( 1 ) Giant axonal neuropathy
( 0 ) Mononeuritis Multiplex Neuritis Multiplex Cutanea
( 0 ) Mononeuropathy
( 0 ) Polyneuropathy
( 0 ) Peripheral Primitive Neuroectodermal Tumour
( 28 ) Periventricular Leukomalacia
( 0 ) Perlman Syndrome
( 0 ) Peutz-Jeghers Syndrome Multiple Poliposis
( 1 ) PFAPA Syndrome
( 1 ) Phacomoatosis Pigmentokeratotica
( 3 ) Phenylketonuria PKU
( 1 ) Maternal PKU Maternal Phenylkentouria
( 0 ) Phocomelia
( 0 ) Photosensitivity
( 1 ) PICA
( 0 ) Pickwickian Syndrome
( 3 ) Pierpont Syndrome Plantar lipomatosis; unusual facial phenotype and developmental delay
( 21 ) Pierre Robin Syndrome
( 9 ) Pitt-Hopkins Syndrome
( 0 ) Pitt-Rogers-Danks Syndrome Pitt Syndrome
( 7 ) Pituitary Disorders Hypopituitarism,Diabetes Insipidus
( 0 ) Acromegaly
( 1 ) Cushing Syndrome Cushing Disease
( 11 ) Diabetes Insipidus
( 0 ) Isolated Gonadotropin Deficiency
( 1 ) Kallman Syndrome
( 0 ) Macro-adenoma
( 10 ) Panhypopituitarism
( 3 ) Pituitary Deficiency
( 0 ) Prolactinoma
( 0 ) Plasminogen Activator Deficiency
( 0 ) Platelet Storage-Pool Disease
( 0 ) Plott Syndrome
( 0 ) Pneumatosis Cystoides Intestinalis
( 0 ) POEMS Syndrome Crow-Fukase Syndrome
( 1 ) Poisoning
( 0 ) Carbon Monoxide Poisoning
( 0 ) Copper Poisoning
( 0 ) Food Poisoning
( 1 ) Lead Poisoning
( 3 ) Poliomyelitis Infantile Paralysis
( 0 ) Acute Anterior Poliomyelitis
( 2 ) Post Polio Syndrome
( 0 ) Pollitt Syndrome
( 4 ) Polyarteritis Nodosa Kussmaul-Maier Syndrome;Periarteritis Nodosa
( 1 ) Polychondritis
( 0 ) Polycystic Kidney and Lung Hypoplasia
( 2 ) Polycystic Ovaries
( 1 ) Polydactyly
( 0 ) Polymorphic Light Eruption PLE
( 0 ) Polysplenia Bilateral left-sidedness
( 18 ) Pontocerebellar Hypoplasia
( 7 ) Popliteal Pterygium Syndrome Popliteal Web Syndrome
( 9 ) Porencephalic cyst
( 9 ) Porencephaly Cystic Encephalomalacia
( 0 ) Porphyria
( 4 ) Acute Intermittent Porphyria
( 0 ) ALA Dehydratase Deficiency
( 0 ) Congenital Porphyria
( 3 ) Ethropoietic Protoporphyria
( 0 ) Hereditary Corroporphyria
( 0 ) Porphyria Cutanea Tarda
( 0 ) Variegate Porphyria
( 0 ) Portal Hypertension
( 2 ) Post Traumatic Stress Disorder
( 13 ) Prader-Willi Syndrome Prader-Willi-Labhart
( 4 ) Pre-eclampsia HELLP,EPH Gestosis,Metabolic Toxaemia of Late Pregnancy,Pre-eclamptic Toxaemia,Pregnancy Induced Hypertension,Toxaemia in pregnancy
( 1 ) Preauricular Pits
( 0 ) Premature Ejaculation
( 0 ) Pressure Palsy
( 0 ) Presumed Ocular Histoplasmosis
( 2 ) Primary Ciliary Dyskinesia Immotile ciliary syndrome,Immotile ciliary dysfunction
( 0 ) Ciliary Dyskinesia
( 0 ) Kartagener Syndome
( 0 ) PCD
( 5 ) Primary Immune Deficiencies C1 Inhibitor deficiency;Leukocyte Adhesion Defect;Interferon Gamma Deficiency;
( 1 ) Adenosine Deaminase Deficiency ADA
( 2 ) Agammaglobulinaemia
( 0 ) Brutons's Disease x-linked agammaglobulinaemia;XLA
( 0 ) Chronic Mucocutaneous Candidiasis
( 1 ) Common Variable Immunodeficiency CVID
( 0 ) Complement Deficiencies
( 1 ) Congenital Asplenia
( 1 ) Duncan Syndrome X-Linked Proliferative Syndrome; XLP;Purtillo's syndrome
( 0 ) HLA Deficiency Expression
( 0 ) Hypogammaglobulinaemia
( 0 ) Hypoglobulinaemia
( 0 ) ICF
( 6 ) IgA Deficiency
( 4 ) IGG Deficiency
( 0 ) Immunodeficiency Centromefic Instabilities and Fac
( 0 ) Immunodeficiency with Partial Albinisim
( 0 ) Immunoglobulin Light Chain Deficiency
( 0 ) Interleukin Deficiency
( 23 ) Job's Syndrome Hyper IgE Syndrome
( 0 ) Leucocyte Adhesion Defect
( 0 ) Linear IgA
( 0 ) Linear IgA Bullous Dermatosis
( 1 ) Neutrophil Disorders
( 5 ) Omenn's Syndrome
( 1 ) Pseudoachondrodysplasia
( 0 ) Purine Nucleoside Phosphorylase Deficiency PNP
( 0 ) Reticular Dysgenesis
( 0 ) Selective IgA Deficiency
( 6 ) Severe Combined Immunodeficiency SCID
( 0 ) T-Cell receptor signalling defect
( 0 ) Vitamin K Deficiency Hypoprothrombenaemia
( 0 ) Wiskott-Aldrich Syndrome
( 0 ) X-Linked Proliferative Disease
( 0 ) X-linked severe combined immunodefiency Interleukin 2 Receptor Gamma chain Deficiency
( 4 ) Primary Pulmonary Hypertension
( 0 ) Prion Diseases
( 0 ) Creutzfeld-Jacob Disease CJD,Creutzfeld Jacob
( 0 ) Gerstmann-Straussler-Scheinker disease Gerstmann Straussler Scheinker, GSS
( 1 ) Proctalgia Fugax
( 0 ) Progressive Multifocal Leukoencephalopathy
( 0 ) Progressive Osseous Heteroplasia
( 0 ) Progressive Supranuclear Palsy Richardson-Steele-Olszewski Syndrome
( 0 ) Prolapsed Rectum Prolapsed Bowel
( 0 ) Prolapsed Umbilical Cord
( 0 ) Prolapsed womb
( 8 ) Proteus Syndrome
( 0 ) Protruding Ears
( 13 ) Prune Belly Syndrome
( 0 ) Pseudo Xanthoma Elasticum PXE
( 1 ) Pseudo-Bulbar Palsy
( 1 ) Pseudoarthrosis Congenital Pseudoarthrosis
( 1 ) Pseudodiastrophic Dysplasia
( 0 ) Pseudoglioma
( 0 ) Psoriasis
( 1 ) Psoriatic Arthropathy
( 0 ) Psuedotoxoplasmosis Syndrome
( 0 ) Pulmonary Eosinophilia
( 2 ) Pulmonary Hypertension
( 0 ) 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)
( 15 ) Lesch-Nyhan Syndrome
( 0 ) Pyle's Disease Metaphyseal Dysplasia
( 1 ) Pyloric Stenosis
( 0 ) Raine Syndrome
( 4 ) Raynaud's Phenomenon Erythromelalgia,Erythermalgia
( 8 ) Reactive Attachment Disorder Attachment Disorder
( 0 ) Reese-Ellsworth Syndrome Anterior Chamber Cleavage
( 18 ) Reflex Anoxic Seizures Pallid Infantile Syncope,Vasovagal Syncope
( 5 ) Reflex Sympathetic Dystrophy
( 0 ) Reiter's Syndrome
( 0 ) Relapsing Polychondritis
( 0 ) Renpenning Syndrome
( 0 ) Repetitive Strain Injury
( 0 ) Reproductive System Anomalies Genital Abnormalities,Indeterminate Gender,Indescended Testes
( 1 ) Ambiguous Genitalia
( 4 ) Micropenis
( 17 ) Rokitansky Syndrome
( 4 ) Uterus Didelphys
( 1 ) Respiratory Distress Syndrome Hyaline Membrane Disease
( 1 ) Respiratory Synkinesis Breathing Hands Sydnrome
( 0 ) Restless Legs Syndrome Wittmaak-Ekbom Syndrome,Ekbom Syndrome
( 0 ) Restricted Growth Intrauterine Growth Retardation,Pseudoachondroplasia
( 27 ) Achondroplasia
( 2 ) Acromesomelic Dysplasia
( 2 ) Brachytelaphangic Chondrodysplasia Punctata
( 3 ) Diastrophic Displasia Diastrophic Dwarfism
( 2 ) Dyschondrosteosis Leri-Weill Syndrome
( 11 ) Hypochondroplasia Hypochondrodysplasia
( 2 ) Intrauterine Growth Retardation
( 2 ) Kniest Syndrome Metatrophic Dwarfism Type II
( 2 ) Majewski Osteodysplastic Primordial Dwarfism Caroline Crachami osteodysplastic primordial dwarfism, MOPD
( 0 ) Majewski Osteodysplastic Primordial Dwarfism Type II (MOPD II)
( 0 ) Metaphyseal Anadysplasia
( 1 ) Metaphyseal Chondrodysplasia
( 1 ) Metaphyseal Chondrodysplasia (Type McKusick) Cartilage Hair Hypoplasia
( 2 ) Pseudoachondroplasia
( 0 ) Spondylo Epiphyseal Dysplasia Tarda X-Linked
( 0 ) Thanatophoric Dysplasia/Dwarfism
( 0 ) Three M Syndrome
( 0 ) Retinoblastoma Cancer of the Eye
( 0 ) Retinodysphasia
( 0 ) Retroperitoneal Fibrosis
( 13 ) Rett Syndrome
( 0 ) Reye Syndrome
( 0 ) Rh Incompatibility
( 0 ) Rhabdoid Tumour
( 0 ) Rhabdomylosis
( 0 ) Rhinencephaly
( 5 ) Ritscher-Schinzel Syndrome
( 0 ) Ritters Syndrome
( 6 ) Roberts Syndrome
( 0 ) Robinow Syndrome Robinow Silverman Smith Syndrome
( 0 ) Robinson Syndrome
( 0 ) Rosenberg-Chutorian Syndrome
( 2 ) Rothmund-Thomson Syndrome
( 1 ) Roussy-Levy Syndrome
( 9 ) Rubinstein-Taybi Syndrome Broad Thumb-Great Toe Syndrome
( 0 ) Rud Syndrome
( 0 ) Ruvalcaba Syndrome
( 32 ) Sacral Agenesis
( 0 ) Sacrocyccygeal Tumour
( 0 ) Sacroilliac facit joint syndrome
( 2 ) Sandifer Syndrome
( 0 ) Sarcoidosis
( 3 ) Scheuermann's disease Spinal Osteochondrosis
( 2 ) Schimke Immunoosseous Dysplasia
( 2 ) Schinzel-Giedion Syndrome
( 2 ) Schizophrenia Schizotypal Disorder
( 2 ) Schmid Type Metaphyseal Chondrodysplasia Metaphyseal Dysostosis Type BI
( 0 ) Schmidt Syndrome
( 3 ) Schwartz-Jampel-Aberfeld Syndrome
( 4 ) Scimitar Syndrome Hypogenetic Lung
( 1 ) Scleroderma Morphoea
( 0 ) Scleromyxedema
( 39 ) Scoliosis Spondylosis,Kyphoscoliosis
( 1 ) Scotopic Sensitivity Syndrome Meares-Irlen Syndrome,Irlen Syndrome
( 2 ) Scott's Syndrome
( 0 ) Seasonal Affective Disorder
( 0 ) Seckel Syndrome
( 0 ) Secreting Adrenal Carcinoma
( 46 ) Selective Mutism Elective Mutism
( 0 ) Sensitive Hearing
( 15 ) Sensory Integration Dysfunction Tactile Defensiveness,Olfactory Defensiveness,Sensory Defensiveness
( 0 ) Sensory Neuropathy Insensitivity to Pain,Multisensory Neuropathy
( 0 ) Septic Phlebitis Lemierre Syndrome
( 0 ) Septicaemia
( 37 ) Septo Optic Dysplasia De Morsiers
( 0 ) Shaken Baby Syndrome
( 5 ) Short Bowel Syndrome
( 0 ) Short Rib Polydactyly Syndrome
( 0 ) Short Syndrome
( 3 ) Shprintzen Goldberg (Craniofacial) Syndrome
( 2 ) Shwachman Syndrome D
( 0 ) Shy Drager Syndrome
( 3 ) Sickle Cell Disorders Sickle Cell Anaemia
( 2 ) Silicosis
( 12 ) Simpson-Golabi-Behmel Syndrome Golabi-Rosen Syndrome
( 1 ) Situs Inversus
( 0 ) Sjögren Syndrome Sjogren Syndrome
( 1 ) Skeletal Problems
( 0 ) Herniated Disc
( 0 ) Kenny Caffey syndrome Kenny Disease, Kenny Syndrome, Congenital Medullary Stenosis, Tubular Stenosis; Kenny Type
( 0 ) Skin Disorders
( 0 ) Actinic Prurigo
( 1 ) Acute Haemorrhagic Oedema of Infancy Seidlmayer's Disease,Finkelstein's Disease,Acute Haemorrhagic Edema of Infancy
( 3 ) Acute Pityriasis Lichenoides
( 0 ) Alopecia Mucinosa Follicular Mucinosis
( 0 ) Angiokeratoma
( 27 ) Aplasia Cutis Cutis Aplasia Congenita
( 2 ) Atrophoderma Vermiculata
( 1 ) Buschke Ollendorff Syndrome
( 3 ) Chronic Actinic Dermatitis photosensitivity dermatitis/actinic reticuloid syndrome (PD/AR)
( 2 ) Darier Disease
( 1 ) Hidradenitis Supurativa
( 0 ) Hopf Disease Acrokeratosis Verruciformis;Acrodermatitis Verruciformis
( 0 ) Hyperkeratosis
( 1 ) Inflammatory Linear Verrucous Epidermal Nevus ILVEN
( 3 ) Keratoderma Palmoplantar Keratoderma;Greithers Syndrome;Hyperkenatosis Keratoderma;Keratosis Palmaris et Plantaris Hereditarium/Unna-Thorst Disease;Keratosis Pilaris;Keratosis Pilaris Atrophicus
( 1 ) Keratosis Pilaris Atrophicans Facies
( 0 ) Molluscum Contagiosum
( 0 ) Naevus Sebaceous
( 0 ) Panniculitis
( 1 ) Pemphigus Vulgaris
( 0 ) 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
( 2 ) Ulerythema Ophyogenes
( 1 ) Sleep Disorders Rythmic Movement Disorder
( 0 ) Obesity-Hypoventilation Syndrome
( 3 ) Sleep Apnoea
( 13 ) Smith-Lemli-Opitz Syndrome RSH Syndrome;SLOS
( 34 ) Smith-Magenis Syndrome Chromosome 17p
( 0 ) Smith-Theiler-Schachenmann Syndrome Rib Gap Syndrome
( 0 ) Sneddon Wilkinson Disease
( 0 ) Solar Utricaria
( 2 ) Spastic Quadriplegia
( 46 ) Speech and Language Impairment
( 4 ) Aphasia
( 36 ) Developmental Verbal Dyspraxia
( 1 ) Dysarthria
( 1 ) Dysphagia
( 0 ) Dysphonia
( 1 ) Hyperlexia
( 22 ) Oral Dyspraxia
( 9 ) Semantic Pragmatic Disorder Pragmatic Disorder
( 38 ) Verbal Dyspraxia
( 32 ) Spherocytosis (Hereditary)
( 53 ) Spina Bifida Occipital Encephalocele,Meningoencephaly
( 0 ) Central Cleft of Lip/Encephalocele
( 2 ) Encephalocele
( 3 ) Lipomyelomeningocele
( 0 ) Spinal Cysts Spinal Defrayism
( 5 ) Spinal Injuries
( 0 ) Brown-Séquard Syndrome
( 0 ) Cauda Equina Lesion
( 1 ) Spinal Muscular Atrophy
( 1 ) Intermediate SMA
( 2 ) Kennedy Disease
( 0 ) Kugelberg-Welander Disease
( 0 ) Mild SMA
( 0 ) Severe SMA
( 1 ) Spinal Muscular Atrophy with Respiratory Distress SMARD1
( 0 ) Werdnig-Hoffmann Disease
( 0 ) Splenectomy
( 4 ) Spondylo Epiphyseal Dysplasia SED
( 0 ) Spondylocostal Dysplasia
( 1 ) Spondylolisthesis
( 1 ) Sprengle's Deformity
( 0 ) Stammering
( 0 ) Staphylitis
( 0 ) Stein Leventhal Syndrome
( 0 ) Steroid Abuse
( 2 ) Stevens-Johnson Syndrome Erythema Multiforma
( 7 ) Stickler Syndrome Wagner Syndrome,Weissen-Bacher-Zweymuller Syndrome,Hereditary Progressive Arthro- opthalmopathy,Arthro-opthalmopathy
( 0 ) Stiff Limb Syndrome
( 2 ) Stiff Man Syndrome
( 2 ) Stillbirths and Neonatal Deaths
( 1 ) Storage Pool Platelet Disease
( 0 ) Stormorken syndrome
( 4 ) Stroke Spinal Stroke,Transient Ischaemic Attack
( 0 ) Vertebrobasilar Stroke
( 11 ) Sturge-Weber Syndrome Encephalofacial Angiomatosis,Sturge Webber Syndrome
( 1 ) Subacute Sclerosing Panencephalitis SSPE
( 3 ) Subglottic Stenosis
( 0 ) Sudden Adult Death Syndrome
( 0 ) Sudden Infant Death Syndrome SIDS
( 0 ) Supraventricular Tachycardia SVT
( 7 ) Sydenham Chorea Sydenham's Chorea
( 0 ) Synaesthesia
( 2 ) Syndactyly Webbed Fingers/Toes
( 0 ) Synovitus
( 3 ) Syringobulbia
( 22 ) Syringomyelia
( 5 ) Systemic Mastocytosis Diffuse Cutaneous Mastocytosis
( 0 ) Takayasu Arteritis
( 10 ) TAR Syndrome Thrombocytopenia with Absent Radii
( 0 ) Tardive Dyskinesia
( 1 ) Taussig- Bing Syndrome
( 7 ) Tay Sachs Disease
( 0 ) Tay Syndrome Trichothiodystrophy with Congenital Ichthyosis
( 0 ) Technology Dependency
( 4 ) Assisted Ventilation
( 0 ) Oxygen Dependency
( 0 ) Tel Hashomer Camptodactyly
( 0 ) Temporal Arteritis
( 3 ) Temporomandibular Joint Syndrome TMJ;Temporomandibular Joint Pain Dysfunction Syndrome;Costen Syndrome
( 1 ) Bruxism Teeth Grinding
( 5 ) Tethered Spinal Cord
( 2 ) Tetrasomy X 48XXXX,XXXX
( 0 ) Thalassaemia Major (Beta thalassaemia) Haemoglobin H Disease;Homozygous Beta Thalassaemia;Haemoglobinopathy Hb British Columbia (A); Mediteranean Anaemia
( 0 ) Thalidomide
( 0 ) Thoracic Outlet Syndrome
( 2 ) Thrombotic Thrombocytopenic Purpura TTP,Moschcowicz Syndrome
( 6 ) Thyroid Disorders
( 3 ) Auto-Immune Thyroid Deficiency
( 2 ) Graves Disease
( 4 ) Hashimoto Syndrome Autoimmune Thyroidism
( 1 ) Hyperthyroidism
( 16 ) Hypothyroidism
( 0 ) T3 Toxicosis
( 0 ) Thyroglossal Cyst
( 0 ) Thyroid Aplasia
( 1 ) Tic Disorders
( 1 ) Chronic Tic Disorder
( 0 ) Transient Tic Disoder
( 2 ) Timothy Syndrome Long QT with Syndactyly
( 0 ) Tinnitus Post-natal Tinnitus
( 0 ) Tnf Receptor Associated Periodic Syndrome TRAPS
( 0 ) Toddler Diarrhoea
( 0 ) Toe walking
( 0 ) Tolosa Hunt Syndrome
( 1 ) Tongue Tie Ankyloglossia
( 0 ) TORCH Syndrome Toxoplasmosis, Rubella, Cytomegalovirus, Herpes Syndrome
( 4 ) Toriello-Carey Syndrome
( 2 ) Torre Muir Syndrome Cutaneous Sebaceous Neoplasms and Keratoacanthomas, Multiple with Gastrointestinal and other Carcinomas
( 0 ) Torsion of the Testicle
( 0 ) Testicular Infarction bilateral testicular infarction
( 27 ) Tourette Syndrome Guinon's Myospasia Impulsiva,Coprolalia Generalised Tic,Brissaud's II,Gilles de la Tourette
( 2 ) Townes-Brocks Syndrome Townes Syndrome
( 0 ) Toxic Epidermal Necrolysis Scalded Skin Syndrome
( 0 ) Toxic Shock Syndrome
( 0 ) Toxocariasis
( 2 ) Toxoplasmosis
( 10 ) Trachea-Oesophageal Fistula and/or Oesophageal Atr Oesphageal Atresia,Adynamic Oesophagus,Duodenal Atresia
( 5 ) Tracheal Stenosis
( 0 ) Tracheobronchopathia Osteochondroplastica
( 5 ) Tracheomalacia
( 27 ) Tracheostomy
( 0 ) Congenital Laryngeal Stricture
( 5 ) Laryngomalacia Epiglottopexy
( 0 ) Ttracheomalacia
( 0 ) Vocal Cord paralysis
( 1 ) Transplants Post-transplant Lymphoproliferative Disorder
( 0 ) Transverse Myelitis
( 1 ) Treacher-Collins Syndrome Franceshetti-Klein,First Arch Syndrome,Mandibulo Dysostosis
( 1 ) Trichotillomania
( 0 ) Trigeminal Neuralgia Tic Douloureux
( 0 ) Trigonitis
( 0 ) Trigonitis Pseudomembranous Idiopathic
( 27 ) Tube Feeding Gastrostomy
( 16 ) Tuberous Sclerosis Epiloia,Bourneville Syndrome
( 1 ) Tumours
( 0 ) Apendoma
( 1 ) Astrocytoma
( 0 ) Benign Spinal Cord Tumour Spinal Cord Tumour
( 0 ) Bone Tumour
( 5 ) Brain Tumour PNET;Apendeoma;Pilocystic Astrocytoma
( 0 ) Carcinoid Disease Carcinoid Syndrome
( 0 ) Cowden Syndrome Multiple Hamartoma Syndrome
( 0 ) Craniopharyngioma
( 1 ) Desmoid Tumour Musculo-aponeurotic fibromatosis;aponeurotic fibromatosis;agressive fibromatosis
( 1 ) Dysembryoplastic Neuroepithelial Tumour
( 0 ) Epithelioid Haemangioendothelioma
( 1 ) Glomangioma angiomyoneuroma;angioneuroma
( 0 ) Juvenile Angiofibroma Angiofibroma;Juvenile Nasopharyngeal Angiofibroma
( 1 ) Medulloblastoma
( 0 ) Multiple Epitheliomata
( 0 ) Phaeochromocytoma
( 0 ) Pheochromocytoma
( 0 ) Pilocystic Astrocytoma
( 0 ) Pinealoma
( 0 ) Rhabdomyoma
( 0 ) Syringoma
( 27 ) Turner Syndrome XO Syndrome,Bonnevie-Ullrich Syndrome,Gonadal Dysgenesis (XO),Monosomy X
( 9 ) Mosaic XO/XY Turner Syndrome
( 2 ) Ulcerative Colitis Pioderma Gangrenosum
( 0 ) Undiagnosed Bone Disorders
( 1 ) Undiagnosed Endocrine Disorders
( 13 ) Undiagnosed Learning Disability
( 1 ) Undiagnosed Metabolic Disorders
( 0 ) Ureter Defects
( 0 ) Urethrocele
( 0 ) Urofacial Syndrome Ochoa Syndrome
( 0 ) Urological Conditions
( 5 ) Posterior Urethral Valves PUV
( 0 ) Urostomy
( 2 ) Urological Conditions Neurogenic Bladder
( 0 ) Urticaria Urticaral Vasculitis,Cold Urticaria,Aquagenic Urticaria
( 12 ) Urticaria Pigmentosa Cutaneous Mastocytosis,Mastocytosis
( 1 ) Usher Syndrome
( 0 ) Van Bogaert's Syndrome
( 0 ) Van Buchem Syndrome Endosteal Hyperostosis
( 1 ) Van der Woude Syndrome Demarquay Syndrome
( 0 ) Varicella Chicken Pox
( 1 ) Congenital Varicella
( 1 ) Vascular Disorders
( 2 ) Arteriovenous Malformation
( 1 ) Vasculitis
( 3 ) VATER Association D VATERL Association
( 0 ) Veno-occlusive Disease
( 0 ) Vernal Conjunctivitis
( 0 ) Vertigo
( 0 ) Vestibular disorders Balance disorders
( 0 ) Viral Infection Herpes Virus
( 0 ) Charles Bonnet Syndrome Bonnet Syndrome
( 0 ) Visceral Myopathy
( 38 ) Visual Impairment/Disorders
( 2 ) 3rd Nerve Palsy of the Eye
( 0 ) Achromatopsia
( 0 ) Acute Zonal Occult Outer Retinopathy AZOOR
( 2 ) Adie Syndrome Holmes-Adie Syndrome
( 0 ) Ametropia
( 13 ) Aniridia Congenital Abnormality of the Iris
( 4 ) Anophthalmia Heminasal Aplasia
( 0 ) Axenfeld Syndrome Axenfeld Anomaly;Axenfeld-Rieger Syndrome;Rieger Syndrome
( 0 ) Axenfeld-Schürenberg Syndrome Cyclic Oculomotor Paralysis;Congenital Cyclic Oculomotor Paralysis
( 19 ) Cataracts
( 0 ) Choroideremia
( 0 ) Chromotosia Congenita
( 7 ) Coats' Disease Exudative Retinitis
( 12 ) Coloboma
( 0 ) Colourblindness
( 1 ) 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
( 5 ) Corneal Dystrophy
( 1 ) Eales Disease
( 2 ) Familial exudative vitreoretinopathy FEVR
( 10 ) Glaucoma
( 6 ) Homonymous Hemianopia
( 1 ) Idiopathic Optic Atrophy
( 2 ) Keratoconus
( 0 ) Macular Disease
( 1 ) Macular Dystrophy
( 5 ) Microphthalmia
( 21 ) Nystagmus Spasmus nutans,Congenital Idiopathic Nystagmus
( 7 ) Nystagmus and Astigmatism
( 0 ) Ocular Disorders Drusen Syndrome
( 5 ) Optic Nerve Atrophy
( 2 ) Optic Nerve Dysplasia
( 20 ) Optic Nerve Hypoplasia
( 2 ) Persistant Hyperplastic Primary Vitreous
( 7 ) Peter's Anomaly
( 9 ) Peter's Plus Syndrome Peter's Plus Anomaly
( 0 ) Pigment Epithelium retinal detachment
( 0 ) Post Polymorhous Corneal Dystrophy
( 0 ) Reis-Büclers Reis-Bncklers
( 2 ) Retinitis Pigmentosa Bulls Eye Dystrophy;Central Areola Choroidal Dystrophy;Retinal Dystrophy, Tapeto Retinal Degenaration
( 0 ) Retinopathy of Prematurity
( 1 ) Rieger's Anomaly
( 0 ) Rod Monochromatisim
( 3 ) Sclerocornea
( 0 ) Spheromicrophakia
( 1 ) Thyroid Eye Disease Thyroid Ophthalmopathy;Thyroid Associated Ophthalmopathy; Graves' Eye Disease;Graves' Ophthalmopathy
( 0 ) Uveitis
( 0 ) Visual Spatial Disorder
( 0 ) Vitamin B12 Uptake Deficiency M
( 0 ) Vitiligo Leukoderma
( 0 ) Vogt-Koyanagi-Harada Syndrome
( 2 ) Von Hippel-Lindau Syndrome
( 1 ) Vulvodynia Vulvar Dysesthesia
( 7 ) Waardenburg's Syndrome
( 0 ) Klein-Waardenburg Syndrome
( 6 ) WAGR Syndrome
( 0 ) Waldenstrom's Macroglobulinaemia
( 5 ) Warburg Micro Syndrome Micro Syndrome
( 0 ) Watson Syndrome
( 2 ) Weaver Syndrome
( 0 ) 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
( 1 ) Wernicke Korsakoff Syndrome Wernicke Encephalopathy
( 62 ) West Syndrome Salaam Attacks,Jackknife Convulsion,Infantile Spasms
( 0 ) Whipples Disease
( 2 ) Wildervanck Syndrome Cervico oculo acoustic Syndrome
( 29 ) William's Syndrome Hypercalcaemia, Infantile Hypercalcaemia
( 2 ) Wilms Tumour Nephroblastoma
( 0 ) Wilson-Mikity Syndrome Cystic Pulmonary Emphysema,Interstitial Prematurity Fibosis,Neonatal Cystic Pulmonary Emphysema
( 0 ) Winter-Tsukahara Syndrome
( 1 ) 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
( 12 ) Wolf-Hirschhorn Syndrome Chromosome 4p
( 6 ) Wolf-Parkinson-White Syndrome
( 3 ) Wolfram Syndrome DIDMOAD
( 0 ) Wooly-hair syndrome Wooly hair syndrome,whs
( 18 ) Worster-Drought Syndrome Congenital Suprabulbar Paresis;Supra Bulbar Paresis;Suprabulbar Palsy
( 0 ) X-linked Hypophosphatemic Rickets Hypophosphatemic Rickets
( 7 ) X-linked Juvenile Retinoschisis Hereditary Retinoschisis
( 0 ) Xeroderma Pigmentosum Kaposi's Syndrome II,De Santis-Cacchione Syndrome
( 3 ) XXX Syndrome Triple X
( 0 ) XXYY Syndrome
( 0 ) Young Syndrome Barry-Perkins-Young
( 0 ) Young-Simpson Syndrome
( 0 ) Yunis Varon Syndrome
( 0 ) Zollinger Ellison Syndrome

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