Listing all conditions - hierarchically
Below is a hierarchical list of all the medical conditions within MakingContact.org. Click on the name of a condition to see the list of members registered against it.
If there are UK support groups for that condition it is indicated thus
. Click on this icon to view a list of the available support groups.
You can also return to the search page or list these conditions alphabetically
- ( 0 )
-
( 22 )
22q11 Deletion Syndromes
- ( 25 ) DiGeorge Syndrome
-
( 3 )
Velo-Cardio-Facial Syndrome
VCFS; Sprintzen Syndrome; Catch 22
- ( 12 ) 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
-
( 17 )
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
-
( 68 )
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
-
( 31 )
Albright Hereditary Osteodystrophy
AHO;Albright's Hereditary Osteodystrophy
-
( 1 )
Alkaptonuria
- ( 4 ) Allan Hurndon Dudley syndrome Allen Hurndon syndrome
-
( 19 )
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
-
( 4 )
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
- ( 4 ) 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
- ( 3 ) 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
-
( 14 )
Anxiety Disorders
School Phobia
- ( 4 ) Agoraphobia
- ( 0 ) Body Dysmorphic Disorder
- ( 1 ) Phobias
- ( 4 ) Apnoea
-
( 0 )
Arboviral Encepalites
- ( 0 ) Japanese Encephalitis
-
( 0 )
Louping Ill Virus
-
( 0 )
Powassan Virus
- ( 0 ) Tick Borne Encephalitis
- ( 0 ) West Nile Encephalitis
- ( 37 ) 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
-
( 40 )
Arthritis (Juvenile Idiopathic)
Stills Disease
- ( 2 ) Enthestitis Related Arthritis
- ( 1 ) Juvenile Spondylitis
- ( 0 ) Monarticular Arthritis
- ( 11 ) Osteoarthritis
- ( 1 ) Polyarthritis
- ( 6 ) Polyarticular Arthritis
-
( 15 )
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
-
( 223 )
Attention Deficit Hyperactivity Disorder
AD(H)D,ADD,Attention Deficit Disorder,ADHD,Hyperkinetic Disorder
- ( 1 ) Chatterbox Syndrome
- ( 1 ) Minimal Brain Dysfunction
- ( 0 ) Auditory Memory Loss
-
( 490 )
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
- ( 7 ) 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
-
( 9 )
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
- ( 1 ) 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
- ( 3 ) Beals II Syndrome Congenital Contractural Arachnodactyly;Beals Hecht Syndrome
-
( 8 )
Beckwith-Wiedemann Syndrome
Neonatal hypoglycaemia, visceromegaly, hemihypertrophy,Exomphalos-Macroglossia-Gigantism
- ( 25 ) 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
- ( 15 ) 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
- ( 1 ) Platelet Function 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
- ( 6 ) Brain Disorders (inc Head Injury)
- ( 17 ) Benign Intracranial Hypertension Pseudotumour Cerebri; Idiopathic Intracranial Hypertension
- ( 2 ) Brain Aneurysm
- ( 2 ) Brain Cysts Arachnoid Cysts;Periventricular Cysts
- ( 33 ) 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
- ( 2 ) Cerebral Infarct
- ( 0 ) Cerebral Malacoplakia
- ( 0 ) Cleft Split of Cerebellum
-
( 7 )
Head Injuries
- ( 1 ) Hypopthalamic Dysfunction
- ( 5 ) Hypoxic Brain Damage
- ( 1 ) Organic Brain Dysfunction
- ( 0 ) Pallidol Degeneration
-
( 1 )
Vein of Galen Malformation
- ( 9 ) Ventriculomegaly
- ( 0 ) Branchial Cleft Cyst
- ( 2 ) Branchio-Oculo-Facial Syndrome
- ( 2 ) Branchio-Oto-Renal Syndrome Branchiootorenal syndrome, Melnick-Fraser syndrome, BOR syndrome, Branchio-otorenal dysplasia, Branchio-otorenal syndrome
- ( 2 ) Breath Holding
-
( 13 )
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 ) Cellulitis
- ( 2 ) Central Auditory Processing Disorder
- ( 0 ) Cephalic Disorders Acephaly;Colpocephaly;Exencephaly;Micrencephaly;Octocephaly;Iniencephaly
- ( 0 ) Megalencephaly Macrencephaly
- ( 11 ) Schizencephaly
- ( 9 ) Cerebral Atrophy
-
( 243 )
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
-
( 9 )
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
-
( 10 )
Chromosome 1 Disorder
-
( 5 )
Chromosome 10 Disorder
-
( 1 )
Chromosome 11 Disorder
-
( 14 )
Chromosome 12 Disorder
-
( 1 )
Chromosome 13 Disorder
-
( 9 )
Chromosome 15 Disorder
-
( 0 )
Chromosome 16 Disorder
-
( 14 )
Chromosome 17 Disorder
-
( 1 )
Chromosome 19 Disorder
-
( 4 )
Chromosome 2 Disorder
-
( 3 )
Chromosome 20 Disorder
-
( 3 )
Chromosome 21 Disorder
-
( 3 )
Chromosome 22 Disorder
-
( 3 )
Chromosome 3 Disorder
-
( 4 )
Chromosome 4 Disorder
-
( 5 )
Chromosome 5 Disorder
-
( 5 )
Chromosome 6 Disorder
-
( 2 )
Chromosome 7 Disorder
-
( 9 )
Chromosome 8 Disorder
Chromosome Disorders, Tetrasomy 8p
-
( 3 )
Chromosome 9 Disorder
- ( 0 ) Chromosome Marker
- ( 0 ) Chromosome X Inversion syndrome
- ( 4 ) 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
- ( 10 ) 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
- ( 4 ) 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
- ( 9 ) Chronic Pain Syndrome
- ( 0 ) Chronic Partial Denervation
- ( 0 ) Chronic Progressive External Ophthalmoplegia
-
( 21 )
Cleft Lip and/or Palate
Cleft Mandible
- ( 23 ) 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
- ( 18 ) 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
- ( 24 ) Conradi-Hunermann Syndrome Chondrodysplasia Punctata (Rhizomelic Type),Rhizomelic Chondrodysplasia Punctata
- ( 0 ) Conversion Disorder
-
( 12 )
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)
- ( 3 ) Craniofrontonasal Dysplasia Craniofrontal Dysostosis
- ( 3 ) Craniostenosis
- ( 38 ) 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
- ( 6 ) Saethre-Chotzen Syndrome
- ( 4 ) Scaphocephaly
- ( 6 ) Trigonocephaly
- ( 0 ) Craniometaphyseal Dysplasia
-
( 17 )
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
- ( 14 ) 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
- ( 11 ) DAMP Deficits in Attention; Motor control and Perception
-
( 0 )
Dancing Eye Syndrome
Opsoclonus-myoclonus,Kinsbourine Syndrome,Myoclonic Encephalopathy
- ( 22 ) Dandy Walker Syndrome
- ( 2 ) De Barsy Syndrome
-
( 3 )
Deaf Blind/Rubella Damaged
Congenital Rubella Syndrome,Rubella
- ( 1 ) Deafblindness
-
( 26 )
Deafness
- ( 6 ) 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
- ( 8 ) 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
-
( 94 )
Down's Syndrome
Trisomy 21,Chromosome 21 Trisomy, downs
- ( 2 ) Mosaic Down's Syndrome
-
( 22 )
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
-
( 31 )
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
-
( 25 )
Dyslexia
- ( 0 ) Dysosteosclerosis
- ( 0 ) Dysphasia
- ( 0 ) Dysplasia Epiphysealis Hemimelica Trevor Disease
-
( 120 )
Dyspraxia
Motor Learning Difficulty,Clumsy Child Syndrome,Bilateral Integration
-
( 14 )
Dystonia
- ( 0 ) Abdominal Wall Dystonia
- ( 0 ) Belly Dancer Diskinesia
- ( 12 ) 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
-
( 30 )
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
-
( 12 )
Encephalitis
Viral Encephalitis
-
( 21 )
Acute Disseminated Encephalomyelitis
ADEM
- ( 2 ) 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 Epidermal Nevus syndrome; Linear Nevus Sebaceous syndrome; Linear Naevus Sebaceous syndrome
-
( 2 )
Epidermolysis Bullosa
EB Simplex
- ( 1 ) Dystrophic EB
- ( 0 ) Junctional Epidermolysis Bullosa Junctional EB
- ( 0 ) Epiglottitis Supraglottisis
-
( 137 )
Epilepsy
Spinal Myoclonus,Unverricht Lundborg
- ( 0 ) Benign Myoclonic Epilepsy
- ( 1 ) Benign Neonatal Familial Convulsions
- ( 5 ) Benign Paroxysmal Tonic Upward Gaze
- ( 15 ) Dravet Syndrome
- ( 3 ) Electrical Status Epilepticus of Slow Wave Sleep ESES
- ( 0 ) Gelastic Epilepsy
- ( 0 ) Hypsarrhythmia
- ( 0 ) Jacksonian Seizures
- ( 0 ) Ketogenic Diet
- ( 5 ) 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
-
( 6 )
Erb's Palsy
Klumpke's Paralysis,Brachial Plexus paralysis
- ( 3 ) Erythromelalgia
- ( 1 ) Evans Syndrome
- ( 0 ) Executive Function Disorder
- ( 1 ) Extrapyramidal Disorder
-
( 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
-
( 25 )
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
- ( 15 ) Fibromyalgia
- ( 0 ) Fibrosing Alveolitis
- ( 0 ) Filipi Syndrome
- ( 0 ) Filippi Syndrome
- ( 0 ) Fine Lubinsky Syndrome
- ( 2 ) Finlay-Marks Syndrome
-
( 8 )
Floating-Harbor Syndrome
- ( 0 ) Forestier's Disease Diffuse Ideopathic Skeletal Hyperostosis
-
( 33 )
Fragile X Syndrome
Fraxe Syndrome
- ( 0 ) Frank-Ter Haar syndrome Ter Haar syndrome,FTHS
- ( 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
- ( 23 ) 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.
-
( 23 )
Goldenhar Syndrome
Oculo-Auricular Verterbral Syndrome,Oculo Auriculo Verebral Dysplasia,Hemifacial Microsomia,First and Second Branchial Arch Syndrome,Facioauriculovertebral Spectrum,Auriculo-oculo-vertebral-Syndrome
- ( 18 ) 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
- ( 30 ) 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
- ( 46 ) Gastro-oesophageal Reflux
- ( 0 ) Gastroparesis Delayed gastric emptying
- ( 35 ) 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
-
( 33 )
Heart Defects
- ( 0 ) Angina
- ( 0 ) Aortic-Left Ventricular Tunnel Aorto Left Ventricular Tunnel; ALVT; aortico-left ventricular tunnel
- ( 0 ) Arrhythmia
- ( 0 ) Arterial Tortuosity Syndrome
- ( 4 ) 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
- ( 10 ) 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
- ( 24 ) 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
- ( 5 ) Hydronephrosis
- ( 4 ) Hyperactivity Hyperkinetic Disorder,Hyperkinesis
- ( 1 ) Hyperacusis
-
( 14 )
Hyperekplexia
Startle Disease/Syndrome,Stiff Baby Syndrome
- ( 0 ) Hyperhidrosis
- ( 0 ) Hyperlipidaemia
-
( 86 )
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
-
( 10 )
Hypomelanosis of Ito
Incontinentia Pigmenti Achromans
-
( 8 )
Hypospadias
- ( 0 ) Hyposperda
-
( 81 )
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
- ( 4 ) 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
- ( 45 ) 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
- ( 5 ) 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
- ( 19 ) 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
- ( 1 ) 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
- ( 7 ) Gitelman Syndrome
- ( 0 ) Goodpasture Syndrome Ceelen-Cellerstedt Syndrome
- ( 1 ) Haematuria
- ( 1 ) IgA Nephropathy Berger Syndrome
- ( 0 ) Juvenile Bnephronophthisis
- ( 2 ) Juvenile Nephronophthisis
- ( 4 ) Kidney Dysplasia
- ( 0 ) Liddle Syndrome
- ( 0 ) Medullary Sponge Kidney
- ( 0 ) Mesangiocapillary Glomerulonephritis
- ( 7 ) 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
-
( 12 )
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
-
( 53 )
Learning Disability
- ( 102 ) Developmental Delay
- ( 195 ) Global Developmental Delay
- ( 2 ) Mental Handicap
-
( 24 )
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
-
( 28 )
Lennox-Gastaut Syndrome
- ( 7 ) 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
- ( 5 ) Limb Abnormalities
- ( 1 ) Amputation
- ( 30 ) Congenital Macrodactyly
-
( 16 )
Lower Limb Abnormalities
Hip Dysplasia,Multiple Epiphyseal,Dysplasia
-
( 6 )
Upper Limb Abnormalities
-
( 14 )
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
- ( 10 ) 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
- ( 24 ) 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
-
( 3 )
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
- ( 19 ) 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
- ( 13 ) Depression
- ( 0 ) Ganser Syndrome
- ( 0 ) Manic Depression
- ( 0 ) Night Terrors
-
( 17 )
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
- ( 1 ) 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
- ( 4 ) 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
- ( 2 ) 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
- ( 2 ) Creatine Transporter Deficiency Syndrome SLC6A8 deficiency
- ( 1 ) Cystinosis
- ( 1 ) Cystinuria
- ( 1 ) Cytochrome C Oxidase Deficiency COX Deficiency
- ( 1 ) DHPR Deficiency Phenylketonuria II;Dihydropteridine Reductase Deficiency; Atypical PKU
- ( 0 ) Dihydropyrimidine Dehydrogenase Deficiency
- ( 0 ) Ethylmalonic Adipic Aciduria
-
( 0 )
Fabry's Disease
Anderson-Fabry Disease, Haemorrhagic Nodular Glycolipid Lipidosis, Angiokeratoma corporis diffusum
- ( 2 ) 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
- ( 1 ) 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
- ( 4 ) Hypophosphatemic Rickets VitaminResistant Rickets M
- ( 0 ) Idiopathic Hypoparathyroidism
- ( 0 ) Isolated ACTH Deficiency Isovaleric Acidaemia
- ( 5 ) Kearne-Sayer Disease
- ( 3 ) Kearns-Sayer Disease
- ( 24 ) 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
- ( 3 ) 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
- ( 13 ) Ornithine Transcarbamylase Deficiency OTC
- ( 1 ) Oxalosis
- ( 0 ) Peroxisomal Defect
- ( 1 ) Primary Hypoparathyroidism
- ( 0 ) Progeria
- ( 0 ) Progeroid Syndrome (Neonatal)
- ( 3 ) Pseudo-Hypoaldosteronism
- ( 4 ) Pseudocholinesterase Deficiency
- ( 6 ) Pyridoxine Dependent Epilepsy
- ( 1 ) Pyridoxine Dependent Vitamin B Deficiency
- ( 4 ) 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
-
( 84 )
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
- ( 2 ) Congenital Fibre Type Disproportional Myopathy
- ( 10 ) 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
-
( 8 )
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 ) Benign Myoclonus of Infancy Benign 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 Centronuclear 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
- ( 26 ) 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
-
( 44 )
Neurofibromatosis
Von Recklinghausen Disease
- ( 0 ) Neurological Features
- ( 0 ) Mirror Movements
- ( 0 ) SUNA Short lasting unilateral neuralgiform headache attacks with cranial autonomic symptoms
- ( 2 ) 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
- ( 37 ) 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
- ( 38 ) 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
- ( 2 ) 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
- ( 5 ) 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
- ( 1 ) 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
- ( 29 ) 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
- ( 22 ) 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 ) Hypogonadotropic Hypogonadism
- ( 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
- ( 19 ) 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
-
( 14 )
Prader-Willi Syndrome
Prader-Willi-Labhart
-
( 5 )
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
- ( 24 ) Job's Syndrome Hyper IgE Syndrome
- ( 0 ) Leucocyte Adhesion Defect
- ( 1 ) 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
-
( 9 )
Proteus Syndrome
- ( 0 ) Protruding Ears
-
( 13 )
Prune Belly Syndrome
- ( 0 ) Pseudo Xanthoma Elasticum PXE
- ( 1 ) Pseudo-Bulbar Palsy
- ( 2 ) 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)
- ( 16 ) Lesch-Nyhan Syndrome
- ( 0 ) Pyle's Disease Metaphyseal Dysplasia
- ( 1 ) Pyloric Stenosis
- ( 0 ) Raine Syndrome
-
( 4 )
Raynaud's Phenomenon
Erythromelalgia,Erythermalgia
- ( 9 ) Reactive Attachment Disorder Attachment Disorder
- ( 0 ) Reese-Ellsworth Syndrome Anterior Chamber Cleavage
-
( 20 )
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
- ( 12 ) 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 ) Rheumatic Fever Acute Rheumatic Fever
- ( 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
- ( 10 ) Rubinstein-Taybi Syndrome Broad Thumb-Great Toe Syndrome
- ( 0 ) Rud Syndrome
- ( 0 ) Ruvalcaba Syndrome
-
( 34 )
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
-
( 42 )
Scoliosis
Spondylosis,Kyphoscoliosis
- ( 1 ) Scotopic Sensitivity Syndrome Meares-Irlen Syndrome,Irlen Syndrome
- ( 3 ) Scott's Syndrome
- ( 0 ) Seasonal Affective Disorder
- ( 0 ) Seckel Syndrome
- ( 0 ) Secreting Adrenal Carcinoma
-
( 46 )
Selective Mutism
Elective Mutism
- ( 1 ) 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
- ( 30 ) 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 Nevus 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
-
( 35 )
Smith-Magenis Syndrome
Chromosome 17p
- ( 0 ) Smith-Theiler-Schachenmann Syndrome Rib Gap Syndrome
- ( 0 ) Sneddon Wilkinson Disease
- ( 0 ) Solar Utricaria
- ( 2 ) Spastic Quadriplegia
-
( 50 )
Speech and Language Impairment
- ( 4 ) Aphasia
- ( 36 ) Developmental Verbal Dyspraxia
- ( 1 ) Dysarthria
- ( 1 ) Dysphagia
- ( 0 ) Dysphonia
- ( 1 ) Hyperlexia
- ( 22 ) Oral Dyspraxia
- ( 10 ) Semantic Pragmatic Disorder Pragmatic Disorder
- ( 40 ) Verbal Dyspraxia
- ( 32 ) Spherocytosis (Hereditary)
-
( 54 )
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
- ( 5 ) 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
-
( 12 )
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
- ( 3 ) Syndactyly Webbed Fingers/Toes
- ( 0 ) Synovitus
- ( 3 ) Syringobulbia
-
( 23 )
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
- ( 5 ) Hashimoto Syndrome Autoimmune Thyroidism
- ( 1 ) Hyperthyroidism
- ( 17 ) 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
-
( 29 )
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
- ( 11 ) Trachea-Oesophageal Fistula and/or Oesophageal Atr Oesphageal Atresia,Adynamic Oesophagus,Duodenal Atresia
- ( 5 ) Tracheal Stenosis
- ( 0 ) Tracheobronchopathia Osteochondroplastica
- ( 5 ) Tracheomalacia
-
( 28 )
Tracheostomy
- ( 0 ) Congenital Laryngeal Stricture
- ( 6 ) 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
- ( 28 ) 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
- ( 2 ) 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
-
( 28 )
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
- ( 15 ) 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
- ( 1 ) Vestibular disorders Balance disorders
- ( 0 ) Viral Infection Herpes Virus
- ( 0 ) Charles Bonnet Syndrome Bonnet Syndrome
- ( 0 ) Visceral Myopathy
-
( 39 )
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
-
( 20 )
Cataracts
- ( 0 ) Choroideremia
- ( 0 ) Chromotosia Congenita
- ( 8 ) Coats' Disease Exudative Retinitis
- ( 13 ) 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
- ( 10 ) 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
-
( 1 )
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
-
( 63 )
West Syndrome
Salaam Attacks,Jackknife Convulsion,Infantile Spasms
- ( 0 ) Whipples Disease
- ( 2 ) Wildervanck Syndrome Cervico oculo acoustic Syndrome
-
( 30 )
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
- ( 2 ) 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
-
( 13 )
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
- ( 8 ) 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


