| 0 All Conditions
|
2 |
- |
| 17 Ketosteroid Reductase Deficiency
|
0 |
- |
| 22q11 Deletion syndromes
|
29 |
 |
| 3 Hydroxy Acyl CoA Dehydrogenase Deficiency
|
0 |
- |
| 3 Methylglutaconic Adicuria
|
0 |
- |
| 3-hydroxy-3-methylglutaric aciduria
|
0 |
- |
| 3-Hydroxy-3-methylglutaryl-CoA lyase Deficiency
|
1 |
- |
| 3rd Nerve Palsy of the Eye
|
3 |
- |
| 5 Alpha Reductase Deficiency
|
0 |
- |
| Aarskog syndrome
(Aarskog-Scott syndrome; Greig syndrome; facial digital genital syndrome; facio genital dysplasia; shawl scrotum syndrome) |
17 |
- |
| Aase-Smith syndrome
|
2 |
- |
| Abdominal Epilepsy
(Stomach Epilepsy) |
1 |
- |
| Abdominal Exstrophies
(Umbilical Hernia) |
1 |
|
| Abdominal Migraine
|
20 |
- |
| Abdominal Wall Dystonia
|
0 |
- |
| Absence of the Septum Pellucidum
|
2 |
- |
| Acanthosis Nigricans
|
0 |
- |
| Achalasia
|
3 |
- |
| Achalasia-Addisonianism-Alacrimia syndrome
(AAA; Allgrove syndrome; Triple A) |
3 |
- |
| Achenbach syndrome
|
0 |
- |
| Achondrogenesis
|
0 |
- |
| Achondroplasia
|
33 |
- |
| Achromatopsia
|
0 |
- |
| Acid Maltase Deficiency
|
0 |
- |
| Acne
(Acne Vulgaris) |
1 |
|
| Acne Vulgaris
|
0 |
- |
| Acoustic Neuroma
(Vestibular Schwannoma) |
1 |
|
| Acquired Aplastic Anaemia
|
0 |
|
| Acquired Partial Lipodystrophy
|
11 |
- |
| Acrocallosal syndrome
(Schinzel Acrocallosal syndrome; Hallux Duplication; postaxial polydactyly; and absence of corpus callosum) |
1 |
- |
| Acrocephaloplysyndactyly
|
0 |
- |
| Acrocephalosyndactyly
|
0 |
- |
| Acrocephalosyndactyly II
|
0 |
- |
| Acrocephalosyndactyly III
|
0 |
- |
| Acrocephalosyndactyly VI
|
0 |
- |
| Acrodermatitis Enteropathica
|
2 |
- |
| Acrodysostosis
|
0 |
- |
| Acromegaloid Facial Appearance syndrome
(AFA syndrome; Thick Lips and Oral Mucosa) |
0 |
- |
| Acromegaly
|
0 |
- |
| Acromesomelic Dysplasia
|
2 |
- |
| Acropectorovertebral Dysplasia
(F syndrome) |
0 |
- |
| ACTH Deficiency
(Isolated ACTH Deficiency) |
2 |
- |
| Actinic Prurigo
|
0 |
- |
| Actinomycosis
|
0 |
- |
| Action Myoclonus Renal syndrome
(Action Myoclonus-renal syndrome; Action Myoclonus Renal Failure syndrome; AMRF; Myoclonus-nephropathy syndrome) |
1 |
- |
| Acute Anterior Poliomyelitis
|
0 |
- |
| Acute Cerebellar Ataxia
(Zappert's syndrome) |
2 |
- |
| Acute Cholinergic Dysautonomia
|
1 |
- |
| Acute Disseminated Encephalomyelitis
(ADEM) |
23 |
|
| Acute Haemorrhagic Oedema of Infancy
(Seidlmayer's disease; Finkelstein's disease; Acute Haemorrhagic Edema of Infancy) |
1 |
- |
| Acute Infective Demyelisation
|
0 |
- |
| Acute Inflammatory Polyneuropathy
|
0 |
- |
| Acute Intermittent Porphyria
|
4 |
- |
| Acute Pityriasis Lichenoides
|
3 |
- |
| Acute Zonal Occult Outer Retinopathy
(AZOOR) |
0 |
- |
| Adams-Oliver syndrome
(Limbs/Scalp Defects; Adams-Olver Type) |
19 |
|
| Addison disease
(Adrenal Hypoplasia) |
11 |
|
| Adenosine Deaminase Deficiency
(ADA) |
1 |
- |
| Adenylosuccinate Lyase Deficiency
|
1 |
- |
| Adie syndrome
(Holmes-Adie syndrome) |
2 |
- |
| Adrenoleukodystrophy
(Adrenomyeloneuropathy; Schilder's disease; Sudanophilic leukodystrophy; ALD) |
4 |
|
| Adrenomyelopathy
|
0 |
- |
| Adynamic Oesphagus
|
0 |
- |
| Agammaglobulinaemia
|
2 |
- |
| Age related macular degeneration
|
0 |
- |
| Agenesis of the Corpus Callosum
(Dysgenesis of the Corpus Callosum; Agenesis of the Corpus Callosum + Choroid Plexus Lipoma) |
88 |
|
| Agoraphobia
|
4 |
- |
| Agyria
|
0 |
- |
| Aicardi syndrome
|
7 |
- |
| Aicardi-Goutieres syndrome
|
5 |
- |
| ALA Dehydratase Deficiency
|
0 |
- |
| Alagille syndrome
(Alagille-Watson syndrome; Arteriohepatic Dysplasia; Cardiovertebral syndrome; Watson-Miller syndrome) |
1 |
- |
| Albinism
(Piebaldism; Oculocerebral syndrome with Hypopigmentation) |
4 |
|
| Albright Hereditary Osteodystrophy
(AHO; Albright's Hereditary Osteodystrophy) |
39 |
|
| Aldosteronism
|
0 |
- |
| Alexander disease
|
10 |
- |
| Alkaptonuria
|
4 |
|
| Allan Hurndon Dudley syndrome
(Allen Hurndon syndrome) |
6 |
- |
| Allergic Colitis
|
4 |
- |
| Allergic Enteropathy
|
3 |
- |
| Allergies
(Milk Intolerance) |
23 |
|
| Alopecia
(Congenital Hypotrichosis; ) |
0 |
|
| Alopecia Areata
|
0 |
- |
| Alopecia Mucinosa
(Follicular Mucinosis) |
0 |
- |
| Alopecia-Mental Retardation syndrome
|
0 |
- |
| Alpers disease
|
25 |
- |
| Alpha 1 - Antitrypsin Deficiency (Adult)
|
0 |
|
| Alpha 1 - Antitrypsin Deficiency (Paediatric)
|
2 |
- |
| Alpha Amino Adipic Aciduria
|
0 |
- |
| Alpha Thalassaemia
(ATR-16; ATR-X; Mental Retardation on the X Chromosome) |
6 |
|
| Alpha-feto protein deficiency
|
1 |
- |
| Alports syndrome
(Alport syndrome) |
3 |
- |
| Alström syndrome
(Alstrom syndrome) |
0 |
|
| Alternating Hemiplegia
(Alternating Hemiplegic Migraine) |
3 |
|
| Alveolar Capillary Dysplasia
|
0 |
- |
| Alzheimer's disease
|
1 |
- |
| Ambidexterous
|
0 |
- |
| Ambiguous Genitalia
|
1 |
- |
| Amelogenesis Imperfecta
(Trichodento-Osseous) |
2 |
- |
| Ametropia
|
0 |
- |
| Amnesia
|
0 |
- |
| Amnesic syndrome
|
0 |
- |
| Amniotic Band syndrome
|
4 |
- |
| Amputation
|
1 |
- |
| Amyloidosis
|
1 |
- |
| Anaemias
|
0 |
- |
| Anal Atresia
|
5 |
- |
| Anal Stenosis
|
5 |
- |
| Anaphylaxis
(Angioneurotic Oedema) |
3 |
|
| Andermann syndrome
(Charlevoix disease) |
3 |
- |
| Andrade syndrome
(Neuropathic Amyloidosis) |
0 |
- |
| Androgen Insensitivity syndrome
(Testicular Feminisation; Incomplete Androgen Insensitivity; Complete Androgen Insensitivity; CAIS; Partial Androgen Insensitivity syndrome; PAIS; Androgen Resistance syndrome; Feminisation syndrome; Feminising Testes syndrome; Male Pseudo-Hermaphroditism; Goldberg) |
4 |
|
| Anencephaly
|
9 |
- |
| Aneurysmal Bone Cyst
|
0 |
- |
| Angelman syndrome
|
58 |
|
| Angina
|
0 |
- |
| Angina Bullosa Haemorrhagica
(oral blisters; oral blood blisters) |
8 |
- |
| Angiokeratoma
|
0 |
- |
| Angiomyolipoma
|
0 |
- |
| Anhidrotic Ectodermal Dysplasia
|
0 |
- |
| Aniridia
(Congenital Abnormality of the Iris) |
16 |
- |
| Ankylosing Spondylitis
|
2 |
- |
| Anonychia-onychodystrophy with Hypoplasia/Absence of Distal Phalanges
(Cooks syndrome; Cook syndrome; OPD; Anonychia - Onychodystrophy with Hypoplasia/Absence of Distal Phalanges; Anonychia-onychodystrophy with Hypoplasia or Absence of Distal Phalanges) |
0 |
- |
| Anophthalmia
(Heminasal Aplasia) |
4 |
|
| Anorchia (Acquired)
|
0 |
- |
| Anorchidism
|
1 |
- |
| Anorectal Conditions
|
0 |
- |
| Anorexia Nervosa
|
2 |
- |
| Anosmia
(Congenital Anosmia) |
0 |
- |
| Anoxia
|
0 |
- |
| Anterior Anus with Vestibular Fistula
|
5 |
- |
| Anterior Horn Cell Hypoplasia
|
0 |
- |
| Anti K Antibodies
|
0 |
- |
| Anti-Jo-1 syndrome
|
0 |
- |
| Antiphospholipid syndrome
(Hughes syndrome) |
10 |
|
| Antithrombin Deficiency
(Antithrombin III Deficiency) |
0 |
- |
| Antley Bixler syndrome
|
0 |
- |
| Anxiety disorders
(School Phobia) |
28 |
|
| Aortic-Left Ventricular Tunnel
(Aorto Left Ventricular Tunnel; ALVT; aortico-left ventricular tunnel) |
1 |
- |
| APECED syndrome
|
5 |
- |
| Apendoma
|
0 |
- |
| Apert syndrome
|
2 |
- |
| Aphasia
|
4 |
- |
| Aplasia Cutis
(Cutis Aplasia Congenita) |
34 |
- |
| Aplastic Anemia
(Hyoplastic Anaemia) |
0 |
- |
| Apnoea
|
6 |
- |
| Arboviral Encephalitis
|
0 |
|
| Arginase Deficiency
|
0 |
- |
| Argininosuccinic Aciduria
|
6 |
- |
| Arm or Hand Deficiencies
|
5 |
- |
| Arnold Chiari Malformation
(Chiari Malformation) |
40 |
- |
| Aromatic Amino Acid Decarboxylase Deficiency
|
0 |
- |
| Arrhythmia
|
0 |
- |
| Arterial Calcification of Infancy
(Occlusive Infantile Arteriopathy; Arteriopathy - Occlusive Infantile) |
20 |
- |
| Arterial Tortuosity syndrome
|
0 |
- |
| Arteriovenous Malformation
|
2 |
|
| Arthritis
(Enteropathic Arthritis; Lumbar Spondylosis) |
7 |
- |
| Arthritis (Juvenile Idiopathic)
(Stills disease) |
46 |
|
| Arthrogryposis
(Amyoplasia Congenita; Arthrogryposis Multiplex Congenita) |
20 |
|
| Arthrogryposis Renal Dysfunction and Cholestasis
|
0 |
- |
| Asbestosis
|
0 |
- |
| Aspartylglycosaminuria
|
1 |
- |
| Assisted Ventilation
|
7 |
- |
| Asthma
|
54 |
|
| Astrocytoma
|
1 |
- |
| Ataxia (undefined)
|
7 |
- |
| Ataxia with Oculomotor Apraxia
|
3 |
- |
| Ataxia-Telangiectasia
(Louis Bar syndrome) |
1 |
|
| Atopic Eczema
|
3 |
- |
| Atrial Septal Defect
|
8 |
- |
| Atrophoderma Vermiculata
|
2 |
- |
| Attention Deficit Hyperactivity disorder
(AD(H)D; ADD; Attention Deficit disorder; ADHD; Hyperkinetic disorder) |
289 |
|
| Atypical Haemolytic Uraemic syndrome
|
0 |
- |
| Auditory Memory Loss
|
1 |
- |
| Auditory Neuropathy
|
7 |
- |
| Autistic Spectrum disorders including Aspergers syndrome
(autism; aspergers syndrome; asperger; asd) |
670 |
|
| Auto-Immune Thyroid Deficiency
|
3 |
- |
| Autoimmine Neutropenia
|
2 |
- |
| Autoimmune disorders
|
3 |
- |
| Autoimmune Enteropathy
|
0 |
- |
| Autoimmune Haemolytic Anaemia
|
0 |
- |
| Autoimmune Inflammatory disease
|
0 |
- |
| Autoimmune Polyendocrinopathy-Candidiasis-Ectoderm
|
3 |
- |
| Autoimmune Proliferative syndrome
|
0 |
- |
| AutoimmuneVasculitis with Cryoglobulinaemia
|
0 |
- |
| Autonomic Neuropathy
|
0 |
- |
| Autosomal Recessive Kidney disease
|
0 |
|
| Avascular Necrosis
(Osteonecrosis) |
5 |
- |
| Axenfeld syndrome
(Axenfeld Anomaly; Axenfeld-Rieger syndrome; Rieger syndrome) |
1 |
- |
| Axenfeld-Schürenberg syndrome
(Cyclic Oculomotor Paralysis; Congenital Cyclic Oculomotor Paralysis) |
0 |
- |
| Back Pain
|
4 |
- |
| Baller-Gerold syndrome
(craniosynostosis-radial aplasia syndrome) |
2 |
- |
| Bannayan-Riley-Ruvalcaba syndrome
(Bannayan-Zonana syndrome; Riley-Smith syndrome; Ruvalcaba Myhre-Smith syndrome; Bannayan syndrome; Macrocepahly; Multiple Lipomas and Hemangiomata; BRRS; ) |
10 |
- |
| Barber-Say syndrome
|
0 |
- |
| Bardet-Biedl syndrome
(Laurence-Moon-Bardet-Beidl syndrome; Adipogenital Retinitis Pigmentosa-Polydactyly) |
11 |
|
| Barlow syndrome
|
0 |
- |
| Barre-Lieou syndrome
|
0 |
- |
| Barth syndrome
(3 Methylglutaconic Aciduria Type II) |
1 |
|
| Bartsocas-papas syndrome
(Popliteal Pterygium syndrome- Lethal Type) |
0 |
- |
| Bartter syndrome
(aldosteronism-normal blood pressure syndrome; Pseudo-Bartters; aldosteronism with hypokalemic alkalosis; juxtaglomerular hyperplasia syndrome) |
5 |
- |
| Bassen-Kornzweig syndrome
(Abetalipoproteinemia; Acanthocytosis; Apolipoprotein B deficiency) |
2 |
- |
| Batten disease
|
3 |
|
| Beals I syndrome
(Auriculoosteodysplasia; Beals syndrome) |
0 |
- |
| Beals II syndrome
(Congenital Contractural Arachnodactyly; Beals Hecht syndrome) |
4 |
- |
| Becker Muscular Dystrophy
|
2 |
|
| Beckwith-Wiedemann syndrome
(Neonatal hypoglycaemia; visceromegaly; hemihypertrophy; Exomphalos-Macroglossia-Gigantism) |
9 |
|
| Behavioural Difficulties
(Emotional Difficulties; Episodic Dyscontrol syndrome) |
39 |
- |
| Behçet syndrome
(Touraine Apthosis; Halushi-Behcet syndrome; Adamantiades-Behcets; Oculobuccogenital syndrome) |
0 |
- |
| Behrs Hereditary Optic Atrophy
(Behr syndrome) |
0 |
- |
| Bells Palsy
|
0 |
- |
| Belly Dancer Diskinesia
|
0 |
- |
| Benign Epilepsy of Childhood with Occipital Paroxysms
(BECOP) |
0 |
- |
| Benign Essential Tremor
(Essential Tremor) |
0 |
- |
| Benign Hereditary Chorea
(Benign Familial Chorea) |
0 |
- |
| Benign Intracranial Hypertension
(Pseudotumour Cerebri; Idiopathic Intracranial Hypertension) |
21 |
- |
| Benign Myoclonic Epilepsy
|
0 |
- |
| Benign Myoclonus of Infancy
(Benign Myoclonus) |
1 |
- |
| Benign Neonatal Familial Convulsions
|
2 |
- |
| Benign Paroxysmal Positonal Vertigo
|
0 |
- |
| Benign Paroxysmal Tonic Upward Gaze
|
5 |
- |
| Benign Paroxysmal Torticollis
|
12 |
- |
| Benign Paroxysmal Torticollis in Infancy
|
19 |
- |
| Benign Spinal Cord Tumour
(Spinal Cord Tumour) |
0 |
- |
| Benzodiazepines in Pregnancy
|
0 |
- |
| Berardinelli Lipodystrophy
|
0 |
- |
| Bernard-Soulier syndrome
|
0 |
- |
| Best's disease
(Bests disease) |
3 |
- |
| Bethlem Myopathy
(Benign Congenital Muscular Dystrophy) |
9 |
- |
| Bicoronal Synostosis
|
1 |
- |
| Bicuspid Aortic Valve disorder
(BAVD) |
2 |
- |
| Biliary Atresia
|
2 |
- |
| Biliary Hypoplasia
|
0 |
- |
| Binswanger disease
|
0 |
- |
| Biotin Deficiency
|
1 |
- |
| Biotinidase deficiency
|
1 |
- |
| Bipolar disorder
(Manic Depression; Bipolar Affective disorder Bi Polar disorder) |
19 |
|
| Bipolar disorder Type II
(Bi polar disorder type II) |
2 |
- |
| Birdshot Chorioretinopathy
(Birdshot Retinochoroidopathy; BSCR) |
2 |
- |
| Birth Trauma
|
7 |
- |
| Birthmarks/Naevus
(Naevus; Fragmented Mole; Congenital Giant Naevus) |
3 |
|
| Bladder disease
|
1 |
- |
| Bladder Exstrophy
(exstrophy epispadias complex) |
4 |
|
| Blepharitis with Chalazia
(Blepharitis with Meibomian Cyst.) |
1 |
- |
| Blepharospasm
|
0 |
- |
| Blood disorders
|
3 |
- |
| Bloom syndrome
(Bloom-Torre-Mackacek) |
1 |
- |
| Blount Barber syndrome
(Blounts disease; Tibia vara) |
8 |
- |
| Blue Rubber Bleb syndrome
|
4 |
- |
| Body Dysmorphic disorder
|
0 |
- |
| Bone disorders
|
2 |
- |
| Bone Tumour
|
0 |
- |
| Borjeson syndrome
(Borjeson-Forssman-Lehmann syndrome) |
0 |
- |
| Bornholm syndrome
(Myalgia Epidemic) |
0 |
- |
| Bowen disease
|
0 |
- |
| BPES
(Blepharophimosis syndrome; Blepharophimosis; Ptosis; Epicanthus Inversus syndrome) |
3 |
- |
| Brachycephaly
(Bicoronal Synostosis) |
2 |
- |
| Brachytelaphangic Chondrodysplasia Punctata
|
4 |
- |
| Bradycardia associated with heart block
|
1 |
- |
| Brain Aneurysm
|
2 |
- |
| Brain Cysts
(Arachnoid Cysts; Periventricular Cysts) |
3 |
- |
| Brain Damage/Injury (acquired and congenital)
|
42 |
- |
| Brain disorders (inc Head Injury)
|
6 |
- |
| Brain Stem Atrophy
|
0 |
- |
| Brain Tumour
(PNET; Apendeoma; Pilocystic Astrocytoma) |
7 |
|
| Branchial Cleft Carcinoma
|
0 |
- |
| Branchial Cleft Cyst
|
0 |
- |
| Branchio-Oculo-Facial syndrome
|
2 |
- |
| Branchio-Oto-Renal syndrome
(Branchiootorenal syndrome; Melnick-Fraser syndrome; BOR syndrome; Branchio-otorenal dysplasia; Branchio-otorenal syndrome) |
2 |
- |
| Breath Holding
|
3 |
- |
| Bright's disease
(Acute Glomerulonephritis) |
0 |
- |
| Brittle Asthma
|
3 |
- |
| Brittle Bone diseases
(Osteogenesis Imperfecta) |
19 |
|
| Brody disease
(Brody Myopathy) |
0 |
- |
| Bronchial Malacia
|
5 |
- |
| Bronchiectasis
|
3 |
- |
| Bronchiolitis Obliterans
|
3 |
- |
| Bronchiolitis Obliterans with Organizing Pneumonia
(BOOP) |
2 |
- |
| Broncho Pulmonary Dysplasia
(BPD) |
3 |
|
| Brown Bowel syndrome
|
0 |
- |
| Brown syndrome
|
0 |
- |
| Brown-Séquard syndrome
|
0 |
- |
| Brown-Vialetto-Van-Laere syndrome
|
1 |
- |
| Brugada syndrome
|
1 |
- |
| Brutons's disease
(x-linked agammaglobulinaemia; XLA) |
0 |
- |
| Bruxism
(Teeth Grinding) |
2 |
- |
| Budd-Chiari syndrome
|
0 |
- |
| Buerger disease
(Occlusive Peripheral Vascular disease; Thromboangiitis Obliterans) |
0 |
- |
| Bulbar Palsy
|
14 |
- |
| Bulimia Nervosa
|
1 |
- |
| Bull's Eye Dystrophy
(Concentric Annular Macular Dystrophy; Bull's eye macular dystropy; Maculopathy - Bull's eye) |
0 |
- |
| Bullouos Ichthyosiform Erythroderma
|
2 |
- |
| Bullous Ichthyosis
|
0 |
- |
| Bullous Pemphigoid
|
1 |
- |
| Burning Mouth syndrome
|
0 |
- |
| Burns
(Scalds) |
0 |
- |
| Buschke Ollendorff syndrome
|
3 |
- |
| C-Trigonocephaly
(Opitz Trigonocephaly syndrome; C syndrome; Trigonocephaly syndrome) |
1 |
- |
| C1 Esterase Inhibitor Deficiency
(Hereditary Angiodemia; Cold weather Angiodema; Angioedema (Hereditary)) |
2 |
- |
| C1q deficiency
|
0 |
- |
| C1r Deficiency
|
0 |
- |
| C9 Deficiency
|
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 |
- |
| Camptodactyly
|
0 |
- |
| Camptomelic Dysplasia
(Campomelic Dysplasia) |
0 |
- |
| Camurati Englemann syndrome
(Englemann syndrome; Progressive Diaphyseal Dysplasia) |
2 |
- |
| Canavan disease
|
1 |
- |
| Cancer
|
3 |
|
| Cantu syndrome
(Hypertrichotic Oseochondrodysplasia) |
0 |
- |
| Carbohydrate Deficient Glycoprotein syndrome
|
2 |
- |
| Carbon Monoxide Poisoning
|
0 |
- |
| Carcinoid disease
(Carcinoid syndrome) |
0 |
- |
| Cardiofaciocutaneous syndrome
(CFC syndrome) |
5 |
- |
| Cardiomyopathies
(HCM; Dilated Cardiomyopathy; Hypertrophic Cardiomyopathy) |
7 |
|
| Carney syndrome
(Carney Triad; Carney Complex; Lamb syndrome; Name syndrome) |
1 |
- |
| Carnitine
|
0 |
- |
| Caroli disease
|
0 |
- |
| Carp Mouth syndrome
(Chromosome 18q) |
0 |
- |
| Carpal Tarsal Osteolysis
(Idiopathic Carpal Tarsal Osteolysis; multicentric osteolysis) |
2 |
- |
| Carpal Tunnel syndrome
|
0 |
- |
| Carpenter syndrome
|
5 |
- |
| Castleman disease
|
0 |
- |
| Cat Eye syndrome
|
1 |
- |
| Cataracts
|
19 |
|
| Catecholaminergic Polymorphic Ventricular Tachycardia
(Catecholamine-induced Polymorphic Ventricular Tachycardia; CPVT; Familial Polymorphic Ventricular Tachycardia; FPVT) |
1 |
- |
| Catel-Manzke syndrome
(Pierre Robin syndrome with Hyperphalangy & Clinodactyly) |
7 |
- |
| Cauda Equina Lesion
|
0 |
- |
| Caudal Regression syndrome
(Mermaid syndrome; Caudal Dysplasia; Caudal Dysgenesis) |
7 |
- |
| Cavernous Haemangioma
(Cavernoma) |
0 |
- |
| Cavum Septum Pellucidum
|
0 |
- |
| CDKL5
(Mutation of cyclin-dependent kinase-like 5; CDK L5) |
0 |
- |
| Cellulitis
|
0 |
- |
| Central Auditory Processing disorder
|
3 |
- |
| Central Cleft of Lip/Encephalocele
|
0 |
- |
| Central Core Myopathy
|
3 |
- |
| Cephalic disorders
(Acephaly; Colpocephaly; Exencephaly; Micrencephaly; Octocephaly; Iniencephaly) |
0 |
- |
| Cerebellar Ataxia
|
11 |
- |
| Cerebellar Hypoplasia
(Cerebellar Agenesis; Cerebellar Aplasia; Hypoplasia of the Cerebellum; Cerbellar Dysgenesis; Dysgenesis of the Cerebellum) |
15 |
- |
| Cerebellar Mutism
|
0 |
- |
| Cerebellar Vermis Hypoplasia
|
6 |
- |
| Cerebral Aneurysm
|
0 |
- |
| Cerebral Arteriovenous Malformation
(Arteriovenous Malformation of the Brain; Cerebral AVM; Brain AVM) |
1 |
- |
| Cerebral Ataxia
(Idiopathic Cerebellar Ataxia) |
4 |
- |
| Cerebral Atrophy
|
9 |
- |
| Cerebral Autosomal Dominant Arteriopathy with Subc
(CADASIL) |
8 |
- |
| Cerebral Hernia
|
0 |
- |
| Cerebral Hypertension
|
0 |
- |
| Cerebral Hypotension
|
0 |
- |
| Cerebral Infarct
|
3 |
- |
| Cerebral Lipidosis
|
0 |
- |
| Cerebral Malacoplakia
|
0 |
- |
| Cerebral Palsy
|
287 |
|
| Cerebro-Oculo-Muscular Dystrophy
|
0 |
- |
| Cerebrocostomandibular syndrome
(Smith-Theiler-Schachenmann syndrome; CCM syndrome; CCMS; Rib Gap Defects with Micrognathia) |
10 |
- |
| Cerebrohepatorenal
|
0 |
- |
| Cerebrotendinous Xanthomatosis
|
0 |
- |
| Cervical Cancer
|
0 |
- |
| Cervical Spondylosis
|
3 |
- |
| Channelopathies
|
0 |
- |
| Charcot-Marie-Tooth disease
(Motor & Sensory Neuropathy; Hereditary Motor & Sensory Neuropathy; Peroneal Muscular Dystrophy; Peroneal Muscular Atrophy; CMT; Congenital Axonal Neuropathy) |
27 |
|
| CHARGE Association
("Colomba; Heart Defect; Atresia Choanae; Restricted Growth and Development; Genital Hypoplasia; Ear Anomalies") |
15 |
|
| Charles Bonnet syndrome
(Bonnet syndrome) |
0 |
- |
| Chatterbox syndrome
|
1 |
- |
| Chediak-Higashi syndrome
(Oculocutaneous albinism) |
1 |
- |
| Cherubism
(Fibrous Jaw Dysplasia) |
2 |
- |
| Chilaiditi syndrome
|
0 |
- |
| CHILD syndrome
(congenital hemidysplasia with ichthyosiform erythroderma and limb defects) |
1 |
- |
| Childhood Illness
(Erysiplers; Croup; febrile convulsions; german measles; glue ear; impetigo; mumps; scarlet fever; threadwork; whooping cough) |
1 |
- |
| Chloride Shunt syndrome
(Gordon syndrome; Pseudohypoaldosteronism) |
1 |
- |
| Choanal Atresia
|
5 |
- |
| Cholangitis
(Primary Sclerosing Cholangitis) |
0 |
- |
| Cholestasis
|
0 |
- |
| Cholesteatoma
|
0 |
- |
| Cholesteryl Ester Transfer Protein Deficiency
|
0 |
- |
| Chondromalacia Patellae
|
1 |
- |
| Chorioathetosis
(Paroxysmal Kinesigenic Choreoathetosis; Paroxysmal Kinesogenic Dyskinesia; Paroxysmal Dystonic Choreoathetosis) |
2 |
- |
| Chorioretinopathy and Pituitary Dysfunction
(CPD syndrome) |
0 |
- |
| Choroid Plexus Cysts
|
1 |
- |
| Choroideremia
|
0 |
- |
| Christmas disease
|
1 |
- |
| Chromosome 1 disorder
|
15 |
|
| Chromosome 10 disorder
|
8 |
|
| Chromosome 11 disorder
|
1 |
|
| Chromosome 12 disorder
|
24 |
|
| Chromosome 13 disorder
|
4 |
|
| Chromosome 14 disorder
|
11 |
|
| Chromosome 15 disorder
|
13 |
|
| Chromosome 16 disorder
|
2 |
|
| Chromosome 17 disorder
|
15 |
|
| Chromosome 19 disorder
|
3 |
|
| Chromosome 2 disorder
|
7 |
|
| Chromosome 20 disorder
|
3 |
|
| Chromosome 21 disorder
|
3 |
|
| Chromosome 22 disorder
|
5 |
|
| Chromosome 22q11 Duplication
(22q11 Duplication) |
0 |
- |
| Chromosome 3 disorder
|
5 |
|
| Chromosome 4 disorder
|
4 |
|
| Chromosome 5 disorder
|
6 |
|
| Chromosome 6 disorder
|
5 |
|
| Chromosome 7 disorder
|
3 |
|
| Chromosome 7q11.23 Duplication
(7q11.23 Duplication) |
0 |
- |
| Chromosome 8 disorder
(Chromosome disorders; Tetrasomy 8p) |
12 |
|
| Chromosome 9 disorder
|
6 |
|
| Chromosome disorders
|
22 |
|
| Chromosome Marker
|
0 |
- |
| Chromosome X Inversion syndrome
|
0 |
- |
| Chromotosia Congenita
|
0 |
- |
| Chronic Actinic Dermatitis
(photosensitivity dermatitis/actinic reticuloid syndrome (PD/AR)) |
3 |
- |
| Chronic Advancing Peripheral Axonal Neuropathy
|
0 |
- |
| Chronic Bullous disease of Childhood
(Linear IgA Dermatosis; LAD; Chronic Bullous Dermatitis of Childhood) |
6 |
- |
| Chronic Eosinophilic Pneumonia
|
0 |
- |
| Chronic Eustacian Tube Dysfunction
|
0 |
- |
| Chronic Functional Abdominal Pain
|
0 |
- |
| Chronic Gastritis
|
1 |
- |
| Chronic Glomerulonephritis
|
0 |
- |
| Chronic Granulomatous disorder
(Bronchocentric Granulomatous disease; CGD) |
0 |
|
| Chronic Hereditary Polyneuropathy
|
0 |
- |
| Chronic Infantile Neurological Cutaneous Articular
(CINCA; Neonatal Multisystem Inflammatory disease; NOMID) |
0 |
- |
| Chronic Inflamatory Demyelinating Polyneuropathy
(Demyelination Peripheral Neuropathy) |
0 |
- |
| Chronic Intestinal Pseudo Obstruction
|
3 |
- |
| Chronic Mucocutaneous Candidiasis
|
0 |
- |
| Chronic Obstructive Pulmonary disease
(COPD) |
1 |
- |
| Chronic Pain syndrome
|
16 |
- |
| Chronic Pancreatitis
|
1 |
- |
| Chronic Partial Denervation
|
0 |
- |
| Chronic Progressive External Ophthalmoplegia
|
0 |
- |
| Chronic Recurrent Multifocal Osteomyelitis
(CRMO) |
7 |
- |
| Chronic Tic disorder
|
1 |
- |
| Churg-Strauss syndrome
|
0 |
- |
| Chylomocron Retention disease
|
0 |
- |
| Ciliary Dyskinesia
|
0 |
- |
| Citrullinaemia
|
6 |
- |
| Cleft Lip and/or Palate
(Cleft Mandible) |
25 |
|
| Cleft Split of Cerebellum
|
0 |
- |
| Cleidocranial Dysplasia
(Marie Sainton syndrome; Cleidocranial Dysostosis) |
28 |
- |
| Cloacal Exstrophy
|
2 |
- |
| Cloverleaf syndrome
(Kleeblattschsedel syndrome; Cloverleaf skull) |
0 |
- |
| Club Foot
|
6 |
- |
| Coarctation of the Aorta
|
4 |
- |
| Coats' disease
(Exudative Retinitis) |
10 |
- |
| Cochlear Implants
|
1 |
- |
| Cockayne syndrome
(Cockayne Neills Dwarfism) |
3 |
- |
| Coeliac disease
(Sprue syndrome; Gluten Enteropathy) |
6 |
|
| Coffin-Lowry syndrome
|
2 |
- |
| Coffin-Siris syndrome
(Dwarfism-onychodysplasia; Fifth Digit syndrome) |
6 |
- |
| Cogan's Dystrophy
(Cogan's syndrome III) |
0 |
- |
| Cogan's I syndrome
(Keratitis-Deafness) |
1 |
- |
| Cohen syndrome
|
2 |
|
| Cold Haemagglutinin disease
|
0 |
- |
| Colitis
(Lymphocytic Colitis) |
4 |
- |
| Collodian Baby
|
0 |
- |
| Coloboma
|
15 |
- |
| coloboma & cyst on the cerebellum
|
0 |
- |
| Colostomy
|
6 |
- |
| Colourblindness
|
0 |
- |
| Coma
(Persistent Vegetative State) |
0 |
- |
| Common Variable Immunodeficiency
(CVID) |
1 |
- |
| Complement Deficiencies
|
0 |
- |
| Complement Receptor Deficiencies
|
0 |
- |
| Complex 1 Deficiency
|
0 |
- |
| Complex Pulmonary Atresia
|
1 |
- |
| Condition Fibromuscular Dysplasia
(FMD) |
0 |
- |
| Conduct disorder and Oppositional Defiance disorder
|
31 |
- |
| Condylar Hyperplasia
|
0 |
- |
| Cone Dystrophy
(Combined Cone-Rod Degeneration; Progressive Cone-Rod Degeneration; Cone-Rod Dystrophy; Retinal Cone Degeneration; Retinal Cone Dystrophy; Retinal Cone-Rod Dystrophy) |
4 |
- |
| Congenital Absence of the Testes
(Anorchidism; Absence of Testes) |
1 |
|
| Congenital Adrenal Hyperplasia
(Adrenal Hyperplasia; CAH; adrenogenital syndrome) |
9 |
|
| Congenital Adrenal Hypoplasia
|
0 |
- |
| Congenital Asplenia
|
2 |
- |
| Congenital Bilateral Perisylvian syndrome
|
29 |
|
| Congenital Central Hypoventilation syndrome
(Central Hypoventilation syndrome; Ondine's; Ondine's Curse; CCHS; Congenital Alveolar Hypoventilation; Congenital Failure of Autonomic Control of Respiration
Idiopathic Alveolar Hypoventilation; Primary Alveolar Hypoventilation; Primary Central Hypoventilatio) |
0 |
|
| Congenital Chloride Diarrhoea
|
1 |
- |
| Congenital Cystic Adenomatoid Malformation
(CCAM) |
25 |
- |
| Congenital Dislocation of the Hip
(CDH) |
34 |
- |
| Congenital disorders of Glycosylation
(CDG; Carbohydrate Deficient Glycoprotein syndromes) |
3 |
- |
| Congenital Dyserythropiectic Anaemia
(Dyserythropoiectic Anaemia) |
4 |
- |
| Congenital Dyserythropoietic Anemia Type II
|
0 |
- |
| Congenital Fibre Type Disproportional Myopathy
|
7 |
- |
| Congenital Folate Malabsorption
(ICFM) |
0 |
- |
| Congenital Generalized Fibromatosis
|
0 |
- |
| Congenital Horseshoe Kidney
|
1 |
- |
| Congenital Hyperinsulinism
(Persistent Hyperinsulinism Hypoglycaemia of Infancy; PHHI; Nesidioblastosis) |
2 |
- |
| Congenital Insensitivity to Pain
|
19 |
- |
| Congenital Laryngeal Stricture
|
0 |
- |
| Congenital Lobar Emphysema
|
8 |
- |
| Congenital Lymphoedema
(Primary Lymphoedema) |
0 |
- |
| Congenital Macrodactyly
|
30 |
- |
| Congenital Melanocytic Naevi
|
1 |
|
| Congenital Muscular Dystrophy
(Oculocerebromuscular) |
10 |
- |
| Congenital Myasthenia
(Congenital Myasthenic syndrome) |
5 |
- |
| Congenital Neutropenia
(Infantile Agranulocytosis; Cyclical Neutropenia; Neutropenia; Kostmann's disease) |
12 |
- |
| Congenital Ocular Motor Apraxia
(Oculomotor Apraxia; Saccade initiation; Cogan's apraxia
) |
33 |
|
| Congenital Porphyria
|
0 |
- |
| Congenital Pulmonary Lymphangiectasia
(Pulmonary Lymphangiectasia) |
4 |
- |
| Congenital Stationary Night Blindness
|
9 |
- |
| Congenital Varicella
|
1 |
- |
| Congenital Vertical Talus
|
1 |
- |
| Conn syndrome
|
0 |
- |
| Connective Tissue disorders
|
3 |
- |
| Conradi-Hunermann syndrome
(Chondrodysplasia Punctata (Rhizomelic Type); Rhizomelic Chondrodysplasia Punctata) |
27 |
- |
| Conversion disorder
|
0 |
- |
| Copper Poisoning
|
0 |
- |
| Cori Type III Glycogenosis
|
0 |
- |
| Corneal Dystrophy
|
6 |
- |
| Cornelia De Lange syndrome
(Status Degenerativus Typus Amstelodamensis; Amsterdam Dwarfism; Brachman de Lange; Status Degenerativus Typus Amstelodamensis; De Lange I syndrome) |
16 |
|
| Cortical Dysplasia
|
4 |
- |
| Cortical Visual Impairment
(CVI; Cerebral Visual Impairment) |
1 |
- |
| Corticobasal Degeneration
|
4 |
- |
| Costello syndrome
|
1 |
|
| Costochondritis
|
2 |
- |
| Cot Death
|
2 |
|
| Cowden syndrome
(Multiple Hamartoma syndrome) |
2 |
- |
| Craniodiaphyseal Dysplasia
|
0 |
- |
| Craniofacial Cleft (Tessier Scale)
|
2 |
- |
| Craniofacial Conditions
|
15 |
|
| Craniofrontonasal Dysplasia
(Craniofrontal Dysostosis) |
4 |
- |
| Craniometaphyseal Dysplasia
|
0 |
- |
| Craniopharyngioma
|
0 |
- |
| Craniostenosis
|
4 |
- |
| Craniosynostosis
|
40 |
- |
| Creatine Transporter Deficiency syndrome
(SLC6A8 deficiency) |
4 |
- |
| Creutzfeld-Jacob disease
(CJD; Creutzfeld Jacob) |
0 |
|
| Cri du Chat syndrome
(Chromosome 5p; Lejeune syndrome) |
19 |
|
| Crigler-Najjar syndrome
(Congenital Familial Non-Haemolytic Jaundice) |
0 |
- |
| Crohn's disease
(Colitis) |
2 |
|
| Cronkite-Canada syndrome
|
0 |
- |
| Crosslaterality
|
0 |
- |
| Crouzon syndrome
|
3 |
- |
| Cryoglobulinaemia
|
0 |
- |
| Currarino syndrome
(Currarino Triad) |
15 |
- |
| Curry-Jones syndrome
|
0 |
- |
| Cushing syndrome
(Cushing disease) |
1 |
|
| Cutis Laxa
(elastolysis) |
2 |
- |
| Cutis Marmorata Telangiectatica Congenita
(Macrocephaly; Cutis Marmorata Telangiectatica Congenita) |
15 |
- |
| Cyclical Vomiting
|
10 |
|
| Cylindroma
(Adenoid Cystic Carcinoma) |
0 |
- |
| Cystic Adenomatoid Malformation Type I
(CAM I) |
0 |
- |
| Cystic Angiomatosis
|
0 |
- |
| Cystic Fibrosis
(Cystic Fibrosis) |
21 |
|
| Cystic Lymphoma
|
1 |
- |
| Cystinosis
|
1 |
- |
| Cystinuria
|
1 |
- |
| Cytochrome C Oxidase Deficiency
(COX Deficiency) |
1 |
- |
| Cytomegalovirus
(CMV) |
17 |
|
| DAMP
(Deficits in Attention; Motor control and Perception) |
14 |
- |
| Dancing Eye syndrome
(Opsoclonus-myoclonus; Kinsbourine syndrome; Myoclonic Encephalopathy) |
0 |
|
| Dandy Walker syndrome
|
27 |
- |
| Danon disease
(Glycogen Storage disease Type 2B; Glycogen Storage Disease Type IIb; Lysosomal Glycogen Storage disease with Normal Acid Maltase) |
0 |
- |
| Darier disease
|
2 |
- |
| Davidenkow syndrome
(Neuropathic scapuloperoneal syndrome) |
0 |
- |
| De Barsy syndrome
|
2 |
- |
| de Grouchy syndrome I
(18p- syndrome; 18p deletion syndrome; chromosome 18p monosomy; del(18p) syndrome; deletion 18p syndrome;
monosomy 18p; partial monosomy 18p
) |
7 |
- |
| De Grouchy syndrome II
(18q- syndrome; 18q deletion syndrome; chromosome 18q; del(18q) syndrome; deletion 18q syndrome; monosomy 18q; partial monosomy 18q
) |
10 |
- |
| De La Chappelle syndrome
(XX Male syndrome) |
0 |
- |
| Deaf Blind/Rubella Damaged
(Congenital Rubella syndrome; Rubella) |
3 |
|
| Deafblindness
|
3 |
- |
| Deafness
|
45 |
|
| Degos disease
(Kohlmeier-Degos disease; Degos-Kohlmeier disease; Malignant Atrophic Papulosis) |
0 |
|
| Dejerine Sottas disease
(Progressive Hypertropic Interstitial Polyneuropathy) |
3 |
- |
| Dementia
|
0 |
- |
| Dementia in Children and Young People
|
0 |
- |
| Denny-Brown syndrome
(Hereditary Sensory Neuropathy Type I; HSN1) |
0 |
- |
| Dent's disease
|
0 |
- |
| Dentato-Olivary Dysplasia
|
2 |
- |
| Dentatorubral-pallidoluysian Atrophy
(DRPLA) |
0 |
- |
| Dentinogenesis Imperfecta
|
2 |
- |
| Depression
|
20 |
- |
| Dercum disease
|
4 |
- |
| Dermatitis Herpetiformis
|
0 |
- |
| Dermatomyositis and Polymyositis
(Juvenile Dermatomyositis) |
1 |
|
| Desbuquois syndrome
(Desbuquois Dysplasia; Micromelic Dwarfism with Vertebral and Metaphyseal Abnormalities and Advanced Carpotarsal Ossification) |
0 |
- |
| Desmin-Related Myopathy
(Desminopathy) |
0 |
- |
| Desmoid Tumour
(Musculo-aponeurotic fibromatosis; aponeurotic fibromatosis; agressive fibromatosis) |
1 |
- |
| Desquamative Interstitial Pneumenitis
(Interstitial Pneumonitis) |
0 |
- |
| Developmental Delay
|
141 |
- |
| Developmental Motor Co-ordination disorder
|
8 |
- |
| Developmental Verbal Dyspraxia
|
40 |
- |
| Devic disease
(Neuromyelitis Optica) |
2 |
- |
| DHPR Deficiency
(Phenylketonuria II; Dihydropteridine Reductase Deficiency; Atypical PKU) |
2 |
- |
| Diabetes Insipidus
|
14 |
- |
| Diabetes Mellitus
|
21 |
|
| Diabetic Neuropathy
|
0 |
- |
| Diamond Blackfan Anaemia syndrome
(Blackfan Diamond syndrome; Congenital Aregenerative Anaemia; Erythrogenesis Imperfecta; Primary Red Cell Anaemia; Hypoplastic Congenital Anaemia; Idiopathic Erythroblastopenia) |
9 |
|
| Diaphragmatic Hernia
(Congenital Diaphragmatic Hernia) |
15 |
|
| Diastasis Symphysis Pubis
(Symphysis Pubic Dysfunction) |
8 |
- |
| Diastematomyelia
|
3 |
- |
| Diastrophic Displasia
(Diastrophic Dwarfism) |
4 |
- |
| Diencephalic syndrome
(Diencephalic Tumor of Infancy) |
0 |
- |
| DiGeorge syndrome
|
33 |
- |
| Digestive disorders
|
0 |
- |
| Dihydropyrimidine Dehydrogenase Deficiency
|
0 |
- |
| Diogenes syndrome
|
0 |
- |
| Discitis
|
0 |
- |
| Disintegrative Psychosis
(Childhood Disintegrative disorder; Heller syndrome) |
2 |
- |
| Distal Muscular Dystrophy
(Markesbery distal myopathy) |
0 |
- |
| Diverticulitis
|
1 |
- |
| Diverticulum of the Left Ventrical
|
0 |
- |
| Divry-Van Bogaert syndrome
(Angiomatosis Diffuse Corticomeningeal; Bogaert- Divry syndrome) |
0 |
- |
| Donnai-Barrow syndrome
|
6 |
- |
| Door syndrome
|
0 |
- |
| Double Inlet Single Ventricle Condition
|
1 |
- |
| Double Inlet Ventricle
|
2 |
- |
| Down's syndrome
(Trisomy 21; Chromosome 21 Trisomy; downs) |
119 |
|
| Down's syndrome with Heart Defect
(downs with heart defect) |
27 |
|
| Drash syndrome
(Denys-Drash syndrome) |
0 |
- |
| Dravet syndrome
|
23 |
- |
| Dressler syndrome
|
0 |
- |
| Drugs (adverse reactions)
(Tetracyclene (adverse reaction)) |
0 |
- |
| Drusen disease
|
0 |
- |
| Duane Retraction syndrome
(Duane syndrome; DRS) |
8 |
- |
| Dubowitz syndrome
|
3 |
- |
| Duchenne Muscular Dystrophy
(dmd) |
42 |
|
| Duncan syndrome
(X-Linked Proliferative syndrome; XLP; Purtillo's syndrome) |
1 |
- |
| Dupuytren Contracture
|
0 |
- |
| Dyggve-Melchior-Clausen syndrome
|
2 |
- |
| Dyke Davidoff-Masson syndrome
(Cerebral Hemiatrophy; DDM) |
0 |
- |
| Dysarthria
|
1 |
- |
| Dyscalculia
|
6 |
- |
| Dyschondrosteosis
(Leri-Weill syndrome) |
2 |
- |
| Dysembryoplastic Neuroepithelial Tumour
|
2 |
- |
| Dysequilibrium syndrome
(Cerebellar disorder; Nonprogressive; with Mental Retardation) |
1 |
- |
| Dysgraphia
|
1 |
- |
| Dyskeratosis Congenita
|
9 |
|
| Dyslexia
|
37 |
|
| Dysosteosclerosis
|
0 |
- |
| Dysphagia
|
2 |
- |
| Dysphasia
|
0 |
- |
| Dysphonia
|
1 |
- |
| Dysplasia Epiphyseal Punctata
(Epiphyseal Punctata) |
0 |
- |
| Dysplasia Epiphysealis Hemimelica
(Trevor disease) |
0 |
- |
| Dyspraxia
(Motor Learning Difficulty; Clumsy Child syndrome; Bilateral Integration) |
153 |
|
| Dysthymia
|
1 |
- |
| Dystonia
|
14 |
|
| Dystrophic EB
|
2 |
- |
| Eagle syndrome
|
0 |
- |
| Eales disease
|
1 |
- |
| Ear Nose and Throat disorders
|
0 |
- |
| Eating disorders
|
4 |
|
| Ebstein Anomaly
|
2 |
- |
| Ectodactyly
|
3 |
- |
| Ectodermal Dysplasia
(Walker-Clodius syndrome; EEC syndrome) |
7 |
|
| Ectodermal Dysplasia syndrome
|
0 |
- |
| Ectopic Bladder
|
0 |
- |
| Ectopic heartbeat
(PVB; premature ventricular beat; Premature contraction; Premature beats; PVC; premature ventricular contraction; Extrasystole) |
1 |
- |
| Ectopica Vesicae
|
0 |
- |
| Ectrodactyly; Ectodermal Dysplasia; Cleft Lip & Palate syndrome
|
4 |
- |
| Eczema
(Ectopic Eczema) |
7 |
|
| Edward's syndrome
(Trisomy 18; Chromosome 18 Trisomy (18 + syndrome)) |
34 |
|
| Ehlers-Danlos syndrome
(Cutis Hyperelastica; Arthrochalasis-Multiplex Congenita; EDS) |
41 |
|
| Eisenmenger Complex
|
1 |
- |
| Electrical Status Epilepticus of Slow Wave Sleep
(ESES) |
3 |
- |
| Elliptocytosis
|
0 |
- |
| Ellis-Van Crevald syndrome
(Chondroectodermal Dysplasia) |
1 |
|
| Empty Sella syndrome
|
0 |
- |
| Encephalitis
(Viral Encephalitis) |
16 |
|
| Encephalocele
|
2 |
- |
| Encephalocraniocutaneous Lipomatosis
|
1 |
- |
| Endocardial Fibroelastosis
|
2 |
- |
| Endometriosis
|
1 |
- |
| Enlarged Vestibular Aqueduct syndrome
|
1 |
- |
| Enterovirus
(Non-polio Enterovirus) |
0 |
- |
| Enthestitis Related Arthritis
|
2 |
- |
| Eosinophilia
|
0 |
- |
| Eosinophilic Colitis
|
21 |
- |
| Eosinophilic Gastritis
|
1 |
- |
| Eosinophilic Gastroenteritis
|
5 |
- |
| Eosinophilic Granuloma
|
2 |
- |
| Ependymoma Tumour
|
0 |
- |
| Epidermal Naevus syndrome
(Epidermal Nevus syndrome; Linear Nevus Sebaceous syndrome; Linear Naevus Sebaceous syndrome) |
2 |
- |
| Epidermolysis Bullosa
(EB Simplex) |
2 |
|
| Epiglottitis
(Supraglottisis) |
0 |
- |
| Epilepsy
|
191 |
|
| Episodic Ataxia
|
1 |
- |
| Episodic Ataxia Type 1
|
1 |
- |
| Episodic Ataxia Type 2
|
12 |
- |
| Epispadias
|
1 |
- |
| Epispadias (Female)
|
0 |
- |
| Epithelioid Haemangioendothelioma
|
0 |
- |
| Epstein Barr Virus
|
0 |
- |
| Erb's Palsy
(Klumpke's Paralysis; Brachial Plexus paralysis) |
8 |
|
| Erdheim-Chester syndrome (ECD)
(ECD; Lipoid Granulomatosis) |
0 |
- |
| Erythromelalgia
|
3 |
- |
| Essential Thrombocythemia
|
1 |
- |
| Ethropoietic Protoporphyria
|
3 |
- |
| Ethylmalonic Adipic Aciduria
|
0 |
- |
| Evans syndrome
|
1 |
- |
| Ewing's Sarcoma
|
1 |
- |
| Executive Function disorder
|
0 |
- |
| Exomphalos
(Omphalocele) |
2 |
- |
| Extrapyramidal disorder
|
1 |
- |
| Eye conditions
|
0 |
- |
| Eyelid Myoclonia with Absences
(EMA; Jeavons syndrome) |
0 |
- |
| Fabry's disease
(Anderson-Fabry disease; Haemorrhagic Nodular Glycolipid Lipidosis; Angiokeratoma corporis diffusum) |
0 |
|
| Facial Disfigurement
(Facial Palsy) |
4 |
|
| Facioscapulohumeral Muscular Dystyrophy
(Facioscapuloperoneal Muscular Dystrophy; Landouzy-Dejerine) |
0 |
|
| Factor B deficiency
|
0 |
- |
| Factor D deficency
|
0 |
- |
| Factor II Deficiency
|
0 |
- |
| Factor V Leiden
|
6 |
- |
| Factor XI Deficiency
|
1 |
- |
| Fahr disease
(Fahr syndrome; Fahr's syndrome; Fahr's disease; Idiopathic Basal Ganglia Calcification; FIBGC) |
0 |
- |
| Failure to Thrive
|
21 |
- |
| Fallot's Tetralogy
|
21 |
- |
| Familial Dysautonomia
|
1 |
|
| Familial exudative vitreoretinopathy
(FEVR) |
2 |
- |
| Familial Hyperlipidaemia
(Familial Hypercholesterolaemia; Familial Hypertriglyceridaemia; FCH; Hyperlipidaemia; Familial Combined Hyperlipidaemia) |
0 |
- |
| Familial Hyperlipidaemias
(Hypercholesterolaemia) |
0 |
|
| Familial hypomagnesemia with hypercalciuria and nephrocalcinosis
(Famililal Hypomagnesemia-Hypocalcemia; Famililal Hypomagnesemia-Calciuria; FHHNC; Manz syndrome) |
0 |
- |
| Familial Mediterranean Fever
(Siegal-Cattan-Mamou syndrome) |
2 |
- |
| Familial Spastic Paraplegia
(Struempel disease; Hereditary Spastic Paraplegia; Spastic Diplegia; Spastic Paraparesis; Spastic Paraplegia) |
3 |
|
| Fanconi syndrome
|
2 |
- |
| Fanconi's Anaemia
(Aplastic Anaemia - Congenital; Congenital Aplastic Anaemia) |
6 |
|
| Fatal Familial Insomnia
|
0 |
- |
| Fatty Acid Oxidation disorders
|
0 |
|
| Fazio-Londe syndrome
(Progressive Bulbar Paralysis) |
1 |
- |
| Febrile Convulsions
|
2 |
- |
| Feingold syndrome
(Microcephaly-mesobrachyphalangy-tracheoesophageal Fistula syndrome; Microcephaly-oculo-digito-esophageal-duodenal syndrome; Oculo-digito-esophagoduodental syndrome; MMT; MODED; ODED) |
0 |
- |
| Female pattern Hair Loss
(Female Androgenetic Alopecia; female hairloss) |
0 |
- |
| Femoral Hypoplasia-Unusual Facies syndrome
|
26 |
- |
| Femur-Fibula-Ulna syndrome
|
0 |
- |
| Fetal Abnormalities
|
0 |
|
| Fetal Alcohol Spectrum disorders
(Foetal Alcohol Spectrum disorders; Fetal Alcohol syndrome; Foetal Alcohol syndrome; Fetal Alcohol Effects; Foetal Alcohol Effects) |
30 |
|
| Fetal Anti-Convulsant syndrome
(Fetal Phenytoin syndrome; Fetal Hydrotoin syndrome; Phenytoin syndrome; Sodium Valporate syndrome) |
32 |
|
| Fetal Anticoagulant syndrome
(DiSala syndrome; Coumarin syndrome; Warfarin syndrome; Wafarin Embryopathy; Heparin Embryopathy; Fetal Warfarin syndrome; Congenital Warfarin syndrome) |
0 |
- |
| FG syndrome
(Opitz-Kaveggio syndrome; Opitz FG syndrome; Keller syndrome) |
5 |
- |
| Fibrodysplasia Ossificans Progressiva
(Myositis Ossificans) |
0 |
- |
| Fibromatosis
|
0 |
- |
| Fibromyalgia
|
20 |
- |
| Fibrosarcoma
|
0 |
- |
| Fibrosing Alveolitis
|
0 |
- |
| Fibrous Dysplasia
|
3 |
- |
| Fibula Deficiency
|
0 |
- |
| Fibula Hemimelia
|
2 |
- |
| Filipi syndrome
|
0 |
- |
| Filippi syndrome
|
0 |
- |
| Fine Lubinsky syndrome
|
0 |
- |
| Finlay-Marks syndrome
|
2 |
- |
| Fish Odour syndrome
|
2 |
- |
| Floating-Harbor syndrome
|
8 |
|
| Focal Myoclonus
|
0 |
- |
| Focal segmental Glomerulosclerosis
|
5 |
- |
| Folate Deficiency Anaemia
|
0 |
- |
| Food Poisoning
|
0 |
- |
| Forestier's disease
(Diffuse Ideopathic Skeletal Hyperostosis) |
0 |
- |
| Fowler syndrome
(Idiopathic voiding dysfunction and retention) |
0 |
- |
| Fragile X syndrome
(Fraxe syndrome) |
39 |
|
| Frank-Ter Haar syndrome
(Ter Haar syndrome; FTHS) |
0 |
- |
| Fraser syndrome
(Cryptothalmus Syndactylly) |
1 |
- |
| Freeman Sheldon syndrome
|
3 |
|
| Fregoli Illusion
(Hyperidentification; Illusion of Fregoli) |
1 |
- |
| Freiberg disease
(Osteochondrosis of the metatarsal head) |
0 |
- |
| Friedreich's Ataxia
(Spinocerebellar Degeneration; Recessive spinocerebellar degeneration) |
8 |
|
| Frontal Bone Protrusion
|
1 |
- |
| Frontal Lobe Dysfunction
|
0 |
- |
| Frontometaphyseal Dysplasia
|
2 |
- |
| Frontonasal Dysplasia
(Median Cleft Face syndrome; de Meyer syndrome) |
3 |
- |
| Frontotemporal Dementia
(Pick's disease) |
0 |
- |
| Fryns syndrome
|
7 |
- |
| Fucosidosis
|
1 |
- |
| Fukuyama Congenital Muscular Dystrophy
|
0 |
- |
| Gait Apraxia
|
0 |
- |
| Galactosaemia
|
2 |
|
| Gall Bladder Problems
(Cholecystectomy) |
0 |
- |
| Galloway syndrome
|
0 |
- |
| Gangliosidosis GM1 and GM2
|
3 |
- |
| Gangrene
|
0 |
- |
| Ganser syndrome
|
0 |
- |
| Gardner's syndrome
(Familial Adenomatous Polyposis; Polyposis coli) |
1 |
- |
| Gastric disorders
|
1 |
- |
| Gastric Teratoma Tumour
|
0 |
- |
| Gastro-oesophageal Reflux
|
63 |
- |
| Gastroenteropathy
|
0 |
- |
| Gastroparesis
(Delayed gastric emptying) |
0 |
- |
| Gastroschisis
|
7 |
- |
| Gastrostomy
|
33 |
- |
| Gaucher disease
(Familial splenic anaemia; Cerobroside Lipidosis) |
1 |
|
| Gelastic Epilepsy
|
0 |
- |
| Geleophysic Dysplasia
|
1 |
- |
| Gender Identity Problems
|
2 |
- |
| Genetic condition
|
0 |
- |
| Genital Herpes Simplex
|
0 |
- |
| Genitopatellar syndrome
|
0 |
- |
| Geographic Tongue
|
1 |
- |
| Geroderma Osteodysplastica
(Bamatter) |
3 |
- |
| Gerstmann syndrome
|
0 |
- |
| Gerstmann-Straussler-Scheinker disease
(Gerstmann Straussler Scheinker; GSS) |
0 |
- |
| Gianotti-Crosti syndrome
|
0 |
- |
| Giant axonal neuropathy
|
1 |
- |
| Gigantism
|
1 |
- |
| Gilbert syndrome
|
0 |
- |
| Gillespie syndrome
|
9 |
- |
| Gitelman syndrome
|
8 |
- |
| Glanzmann's Thrombasthenia
(Thrombasthenia) |
0 |
|
| Glaucoma
|
14 |
|
| Global Developmental Delay
|
272 |
- |
| Glomangioma
(angiomyoneuroma; angioneuroma) |
1 |
- |
| Glucose 6 Phosphate Dehydrogenase Deficiency
|
1 |
- |
| Glucose Galactose Malabsorption Deficiency
|
0 |
- |
| Glue Ear
|
0 |
- |
| Glutaric Acidaemia Type I
|
1 |
- |
| Glutaric Acidaemia Type II
(Deficiency of Electron Transfer Flavoprotein; Deficiency of Electron Transfer Flavoprotein: Ubiquinone Oxidoreductase; GA II; Glutaric Acidemia II; Glutaric Aciduria II; MADD; Multiple Acyl-CoA Dehydrogenation Deficiency) |
0 |
- |
| Glutaric Acididura
|
0 |
- |
| Glycogen Storage disease
(Tarui Type VII Glycogenesis; Von Gierke) |
1 |
|
| Goldberg Shprinzten syndrome
(GOSHS; HSCR cleft palate-mental retardation; Goldberg-Shprinzten megacolon syndrome.) |
0 |
- |
| Goldenhar syndrome
(Oculo-Auricular Verterbral syndrome; Oculo Auriculo Verebral Dysplasia; Hemifacial Microsomia; First and Second Branchial Arch syndrome; Facioauriculovertebral Spectrum; Auriculo-oculo-vertebral-syndrome) |
25 |
|
| Goltz syndrome
(Focal Dermal Hypoplasia) |
20 |
- |
| Gonadal Dysgenesis XX Type
|
0 |
- |
| Goodpasture syndrome
(Ceelen-Cellerstedt syndrome) |
0 |
- |
| Gordon syndrome
|
0 |
- |
| Gorham syndrome
|
1 |
- |
| Gorlin syndrome
(Basal Cell Naevus syndrome) |
3 |
|
| Gout
|
0 |
- |
| Graves disease
|
2 |
- |
| Greig syndrome
(Optic Hypertelorism) |
0 |
- |
| Grey Matter Heretopia
(Gray Matter Heretopia) |
0 |
- |
| Griscelli syndrome
|
1 |
- |
| Group A Streptococcus
|
0 |
- |
| Group B Streptococcus
|
0 |
|
| Growth disorders
|
7 |
- |
| Growth Hormone Deficiency
(Multipituitary Hormone Deficiency) |
15 |
|
| GTP Cyclohydrolase 1 Deficiency
(Dopa-Responsive Dystonia; Dopa; Responsive) |
0 |
- |
| Guanadinoacetate Methyltransferase
(GAMT) |
0 |
- |
| Guillain-Barré syndrome
(Chronic / Acute Inflammatory Polyneuropathy; Guillain Barre syndrome) |
0 |
|
| Gulf War syndrome
|
0 |
- |
| Gut Fermentation syndrome
|
0 |
- |
| Gut Motility disorders
(Intractable Vomiting; Severe Constipation) |
11 |
|
| Gynecomastia
|
1 |
- |
| Haas syndrome
|
0 |
- |
| Haemangioma
(Optic Nerve Haemangioma; Kasabach-Merrit syndrome; Haemangio-endothelioma; Haemangio Lymphantioma; Cavernous Haemangioma) |
1 |
- |
| Haematuria
|
1 |
- |
| Haemochromatosis
|
0 |
|
| Haemoglobin G Norfolk
|
0 |
- |
| Haemoglobin M
|
0 |
- |
| Haemoglobinaemia
|
0 |
- |
| Haemolytic Anaemia
|
0 |
- |
| Haemolytic Uraemic syndrome
(E Coli Infection) |
0 |
|
| Haemophagocytic Anaemia (Virus Associated)
|
0 |
- |
| Haemophagocytic Lymphohistiocytosis
|
0 |
- |
| Haemophilia
(Platelet Function Defect; Von Willibrand disease; Coagulation Defects) |
2 |
|
| Haemophilia A
|
3 |
- |
| Haemorrhagic disease of the newborn
|
0 |
- |
| Haemorrhagic Shock Encephalopathy syndrome
(HSES) |
0 |
- |
| Haemorrhoids
|
0 |
- |
| Hajdu-Cheney syndrome
(Arthrodentoosteodysplasia; Cheney syndrome; Acrosteolysis with oesteoporosis and changes in skull and mandible) |
7 |
- |
| Hallermann-Strieff Francois syndrome
|
0 |
- |
| Hanhart syndrome
|
0 |
- |
| Hardcastle syndrome
(Diaphyseal Medullary Stenosis with Malignant Fibrous Histiocytoma) |
0 |
- |
| Harlequin Ichthyosis
|
1 |
- |
| Hartnup disease
(Tryptophan Malabsorption) |
0 |
- |
| Hashimoto Encephalitis
|
2 |
- |
| Hashimoto syndrome
(Autoimmune Thyroidism) |
5 |
- |
| Head Injuries
|
10 |
|
| Heart and Heart/Lung Transplant
|
3 |
- |
| Heart Defects
|
45 |
|
| Hecht syndrome
|
0 |
- |
| Hemihypertrophy
|
13 |
- |
| Hemimegalencephaly
(Linear Nevus Sebaceous syndrome; HME) |
11 |
- |
| Hemiparesis
|
3 |
- |
| Hemiplegia
|
45 |
|
| Hennekam syndrome
|
1 |
- |
| Henoch Schonlein Purpura
(HSP; Henoch-Schonlein Purpura) |
46 |
|
| Hepatitis B
|
0 |
- |
| Hepatitis C
(HVC; Non-A Non-B hepatitis; NANB) |
0 |
- |
| Hereditary Corroporphyria
|
0 |
- |
| Hereditary Fructose Intolerance
|
0 |
- |
| Hereditary Haemolytic Anaemia
|
1 |
- |
| Hereditary Haemorrhagic Telangiectasia
(Telangiectasia; Haemorrhagic Telangectasia; HHT; Rendu-Osler-Weber syndrome; Osler-Rendu-Weber syndrome) |
5 |
|
| Hereditary Multiple Exostoses
|
5 |
- |
| Hereditary Neuropathy with liability to pressure palsies
|
1 |
- |
| Hereditary Nodular Heterotopia
(Periventricular Nodular Heterotopia; Subependial Nodular Hetero) |
1 |
- |
| Hermansky-Pudlak syndrome
(HPS; HPS1; HPS2; HPS3; HPS4; HPS5; HPS6; HPS7; HPS8) |
0 |
- |
| Hermaphroditism
|
0 |
- |
| Hernias
(Diaphragmatic Hernia + Blockage; Rectus Abdominus Hernia) |
2 |
- |
| Herniated Disc
|
0 |
- |
| Herpes Simplex Encephalitis (HSE)
|
5 |
- |
| Herpes Simplex Virus
|
0 |
- |
| Heterotopia
|
4 |
- |
| Hidradenitis Supurativa
|
1 |
- |
| Hidrotic Ectodermal Dysplasia
|
0 |
- |
| Hinman syndrome
|
0 |
- |
| Hippocampus Sclerosis
|
0 |
- |
| Hirayama syndrome
(Benign Focal Amyotrophy; Hirayama syndrome; Juvenile muscular atrophy of the distal upper extremity; Monomelic Amyotrophy) |
0 |
- |
| Hirschsprung disease
|
44 |
- |
| Histiocytosis
(Hand-Schuller-Christian disease; Familial Erythrophagocytic Lymphohistiocytosis) |
1 |
|
| HIV Infection and AIDS
(AIDS; HIV) |
0 |
|
| HLA Deficiency Expression
|
0 |
- |
| Hodgkin's disease
(NHL) |
0 |
- |
| Hoffmann syndrome
(Hypothyroid Myopathy) |
0 |
- |
| Hollow Visceral Myopathy
|
7 |
- |
| Holoprosencephaly
(Semilobar Holoprosencephaly; Semilobar Holoprosencephaly) |
39 |
- |
| Holt-Oram syndrome
(Atriodigital dysplasia) |
19 |
- |
| Homocystinuria
|
2 |
- |
| Homonymous Hemianopia
|
6 |
- |
| Hopf disease
(Acrokeratosis Verruciformis; Acrodermatitis Verruciformis) |
0 |
- |
| Hopkins syndrome
|
1 |
- |
| Horner syndrome
|
1 |
- |
| Hoyeraal-Hreidarsson syndrome
|
2 |
- |
| HTLV-1 associated Myelopathy
(Jamaican Myelopathy; HAN-TSP; Tropical Spastic Paraparesis) |
0 |
- |
| Humeroradial Synostosis
|
0 |
- |
| Hunter disease
|
0 |
- |
| Huntington's disease
(Huntington's Chorea) |
2 |
|
| Hurler disease
|
1 |
- |
| Hydatidiform Mole
|
0 |
- |
| Hydranencephaly
|
2 |
|
| Hydroa Vaccininforme
|
0 |
- |
| Hydrocephalus
(Normal Pressure Hydrocephalus (adult onset)) |
98 |
- |
| Hydrohidrotic Ectodermal Dysplasia
|
4 |
- |
| Hydromyelia
|
0 |
- |
| Hydronephrosis
|
8 |
- |
| Hyperactivity
(Hyperkinetic disorder; Hyperkinesis) |
4 |
- |
| Hyperacusis
|
2 |
- |
| Hyperbilirubinaemia
|
0 |
- |
| Hyperekplexia
(Startle disease/syndrome; Stiff Baby syndrome) |
14 |
|
| Hypereosinophilia syndrome
|
2 |
- |
| Hyperglycinaemia
|
0 |
- |
| Hyperhidrosis
|
1 |
- |
| Hyperinsulinism
(Functional hypoglycaemic syndrome; hyperinsulinism syndrome; organic hyperinsulinism syndrome; Harriss syndrome; hyperinsulinoma; reactive functional hypoglycaemia.) |
3 |
- |
| Hyperkalaemic Periodic Paralysis
|
2 |
- |
| Hyperkeratosis
|
0 |
- |
| Hyperlexia
|
1 |
- |
| Hyperlipidaemia
|
0 |
- |
| Hypermobility syndrome
(Hyperlaxity syndrome) |
107 |
|
| Hyperoxaluria
(Oxalosis) |
1 |
- |
| Hyperphosphatasia
|
0 |
- |
| Hypertension
|
0 |
- |
| Hyperthyroidism
|
1 |
- |
| Hypertriglycridaemia
|
0 |
- |
| Hypocalcaemia
|
0 |
- |
| Hypochondroplasia
(Hypochondrodysplasia) |
15 |
- |
| Hypogammaglobulinaemia
|
0 |
- |
| Hypogangliosis
|
0 |
- |
| Hypoglobulinaemia
|
0 |
- |
| Hypoglycaemia
|
0 |
- |
| Hypoglycaemia (Non-diabetic)
|
1 |
- |
| Hypogonadotropic Hypogonadism
|
0 |
- |
| Hypohydrosis
|
0 |
- |
| Hypokalaemic Periodic Paralysis
(Gamstorp disease) |
0 |
- |
| Hypomagnesemia
|
0 |
- |
| Hypomelanosis of Ito
(Incontinentia Pigmenti Achromans) |
10 |
|
| Hypomyelination with Atrophy of the Basal Ganglia and Cerebellum
(H-ABC syndrome) |
0 |
- |
| Hypoparathyroidism
|
9 |
- |
| Hypophosphatasia
|
0 |
- |
| Hypophosphatemic Rickets
(VitaminResistant Rickets M) |
4 |
- |
| Hypoplastic Left Heart syndrome
|
21 |
|
| Hypoplastic Right Heart syndrome
|
13 |
- |
| Hypopthalamic Dysfunction
|
2 |
- |
| Hypospadias
|
9 |
|
| Hyposperda
|
0 |
- |
| Hypothalamic Hamartoma
|
3 |
|
| Hypothyroidism
|
20 |
- |
| Hypotonia
(Benign Congenital Hypotonia; Amyotonia Congenita) |
104 |
|
| Hypoxic Brain Damage
|
6 |
- |
| Hypoxic Ischaemic Encephalopathy
|
29 |
- |
| Hypsarrhythmia
|
0 |
- |
| I Cell disease
|
0 |
- |
| ICF
|
0 |
- |
| Ichthyosis
|
5 |
|
| Ichthyosis Erythroderma
|
1 |
- |
| Ichthyosis Lamellar
|
1 |
- |
| Ichthyosis Vulgaris
|
1 |
- |
| Idiopathic Hypereosinophilia syndrome
|
2 |
- |
| Idiopathic Hypoparathyroidism
|
0 |
- |
| Idiopathic Inflammatory Myopathies
|
0 |
- |
| Idiopathic Nail Atrophy
|
0 |
- |
| Idiopathic Optic Atrophy
|
1 |
- |
| Idiopathic Pulmonary Haemosiderosis
|
3 |
- |
| Idiopathic Scrotal Oedema
|
0 |
- |
| IgA Deficiency
|
7 |
- |
| IgA Nephropathy
(Berger syndrome) |
1 |
- |
| IGG Deficiency
|
4 |
- |
| Ileostomy
|
3 |
- |
| Immune (Idiopathic) Thrombocytopenic Purpura D
(Idiopathic Thrombocytopenia Purpura; ITP) |
0 |
- |
| Immune disorders
|
5 |
- |
| Immunodeficiency Centromefic Instabilities and Fac
|
0 |
- |
| Immunodeficiency with Partial Albinisim
|
0 |
- |
| Immunoglobulin Light Chain Deficiency
|
0 |
- |
| Imperforate Anus
|
50 |
- |
| Impulse Control disorders
|
0 |
- |
| Inclusion Body Myositis
(inflammatory myopathy) |
0 |
- |
| Incontinence
(Urge Incontinence; Encopresis; Detrusor Instability; Enuresis) |
8 |
- |
| Incontinentia Pigmenti
(Block-Sulzberger syndrome) |
19 |
- |
| Infantile Desmoplastic Ganglioglioma
|
0 |
- |
| Infantile Fibromatosis
|
0 |
- |
| Infantile Pyknocytosis
|
0 |
- |
| Infantile Systemic Hyalinosis
|
0 |
- |
| Inflammatory Linear Verrucous Epidermal Nevus
(ILVEN) |
1 |
- |
| Interleukin Deficiency
|
0 |
- |
| Intermediate SMA
|
1 |
- |
| Intestinal Atresia
|
0 |
- |
| Intestinal Conditions
(Protein leakage from Bowel; Neurogenic Bladder) |
8 |
- |
| Intestinal Lymphangiectasia
|
11 |
- |
| Intestinal Pseudo Obstruction
|
2 |
- |
| Intra Cerebral Whipples disease
|
0 |
- |
| Intrauterine Growth Retardation
|
3 |
- |
| Intrinsic Platelet Defect
|
0 |
- |
| Intussuception
|
0 |
- |
| Ion Channel disorder
(Calcium Ion Channel disorder) |
0 |
- |
| Irritable Bladder
(Urge Incontinence) |
0 |
- |
| Irritable Bowel syndrome
|
7 |
|
| Isaac syndrome
(Neuromyotonia; Myokymia) |
5 |
- |
| isodicentric 15
(idic(15)) |
11 |
- |
| Isolated ACTH Deficiency Isovaleric Acidaemia
|
0 |
- |
| Isolated Gonadotropin Deficiency
|
0 |
- |
| Isolated Lissencephaly Sequence
|
1 |
- |
| Isotretinoin Embryopathy
|
0 |
- |
| Ivemark syndrome
(Congenital Absence of Spleen; Right Atrial Isomersism) |
1 |
|
| Jacksonian Seizures
|
0 |
- |
| Jacobs syndrome
(Arthropathy-Campodactyly syndrome) |
0 |
- |
| Jacobsen syndrome
(11q- syndrome
) |
18 |
- |
| Jaffe-Lichtenstein-Sutro syndrome
(Pigmented Villonodular synovitis) |
1 |
- |
| Jansen syndrome
|
0 |
- |
| Jansky-Bielschowsky disease (Late Infantile Type)
|
0 |
- |
| Japanese Encephalitis
|
0 |
- |
| Jarcho-Levin syndrome
(Spondylo Thoracic Dysplasia) |
8 |
- |
| Jaundice
|
0 |
- |
| Jejeunal Atresia
|
0 |
- |
| Jessner's Lymphocytic infiltration of the skin
|
17 |
- |
| Jeune syndrome
(Asphyxiating Thoracic Dysplasia; Jeune Thoracic Dysplasia; Asphyxiating Thoracic Dystrophy; Jeune Thoracic Dystrophy) |
0 |
- |
| Job's syndrome
(Hyper IgE syndrome) |
28 |
- |
| Johanson-Blizzard syndrome
|
13 |
- |
| Joubert syndrome
(Familial Cerebellar Vermis Agenesis) |
21 |
- |
| Junctional Epidermolysis Bullosa
(Junctional EB) |
0 |
- |
| Juvenile Angiofibroma
(Angiofibroma; Juvenile Nasopharyngeal Angiofibroma) |
0 |
- |
| Juvenile Bnephronophthisis
|
0 |
- |
| Juvenile Hyaline Fibromatosis
(Systemic Juvenile Hyalinosis) |
2 |
- |
| Juvenile Myoclonic Epilepsy
|
5 |
- |
| Juvenile Nephronophthisis
|
2 |
- |
| Juvenile Osteoporosis
(Osteoporosis) |
4 |
|
| Juvenile Respiratory / Laryngeal Papilomatosis
(Papilloma) |
3 |
- |
| Juvenile Retinoschisis
|
3 |
- |
| Juvenile Spondylitis
|
1 |
- |
| Kabuki syndrome
(Kabuki-Make Up syndrome) |
46 |
|
| Kallman syndrome
|
1 |
- |
| Kapur-Toriello syndrome
|
0 |
- |
| Kartagener Syndome
|
0 |
- |
| Kaufman Oculocerebral Facial syndrome
(Kaufman syndrome) |
0 |
- |
| Kaufman-Mckusick syndrome
|
0 |
- |
| Kawasaki disease
(Mucocutaneous Lymph Node syndrome) |
0 |
|
| KBG syndrome
|
2 |
- |
| Kearne-Sayer disease
|
6 |
- |
| Kearns-Sayer disease
|
3 |
- |
| Kearns-Sayre syndrome
|
8 |
- |
| Kennedy disease
|
2 |
- |
| Kenny Caffey syndrome
(Kenny disease; Kenny syndrome; Congenital Medullary Stenosis; Tubular Stenosis; Kenny Type) |
0 |
- |
| Keratoconus
|
2 |
|
| Keratoderma
(Palmoplantar Keratoderma; Greithers syndrome; Hyperkenatosis Keratoderma; Keratosis Palmaris et Plantaris Hereditarium/Unna-Thorst disease; Keratosis Pilaris; Keratosis Pilaris Atrophicus) |
3 |
- |
| Keratosis Pilaris Atrophicans Facies
|
1 |
- |
| Kernicterus
(Bilirubin Encephalopathy) |
2 |
- |
| Ketogenic Diet
|
0 |
- |
| KID syndrome
(Keratitis-Ichthyosis-Deafness) |
0 |
- |
| Kidney disease
|
9 |
|
| Kidney Dysplasia
|
4 |
- |
| Kienbocks
|
0 |
- |
| Kimura disease
|
0 |
- |
| Kinematic Imbalances due to Suboccipital Strain
(KISS syndrome) |
0 |
- |
| King syndrome
|
0 |
- |
| Kjellin syndrome
(Spastic Paraplegia and Retinal Degeneration
) |
0 |
- |
| Kleefstra syndrome
(9q34 deletion syndrome ) |
1 |
- |
| Klein-Waardenburg syndrome
|
0 |
- |
| Kleine-Levin syndrome
|
3 |
- |
| Klinefelter syndrome
(XXXXY syndrome; XXY syndrome) |
16 |
|
| Klippel-Feil syndrome
(Congenital Osseous-torticollis; MURCS Associations; Brevicollis; Congenital Cervico-thoracic Vertebrae Synostosis) |
42 |
- |
| Klippel-Trenaunay syndrome
(Parkes-Weber syndrome; Angio Osteohypertrophy) |
11 |
- |
| Kluver-Bucy syndrome
|
1 |
- |
| Kniest syndrome
(Metatrophic Dwarfism Type II) |
2 |
- |
| Knobloch syndrome
|
0 |
- |
| Kohler's disease
|
0 |
- |
| Krabbe disease
|
7 |
- |
| Kufs disease (Adult type)
|
0 |
- |
| Kugelberg-Welander disease
|
0 |
- |
| L1 syndrome
(L1 Spectrum; L1 disease; CRASH syndrome. Includes: HSAS; MASA syndrome; SPG1 (X-linked complicated hereditary spastic paraplegia type 1); X-linked complicated corpus callosum agenesis.) |
1 |
- |
| L2-hydroxyglutaric aciduria
|
0 |
- |
| Labial Fusion
|
0 |
- |
| Labyrinthitis
|
0 |
- |
| Lacrimation Failure
|
0 |
- |
| Lactic Acidosis
|
2 |
- |
| Lactose Intolerance
(Hypolactasia) |
3 |
- |
| LAD I Deficiency
(Leukocyte Adhesion Defect (I)) |
0 |
- |
| LAD II Deficiency
(Leukocye Adhesion Defect (II)) |
0 |
- |
| LADD syndrome
(Lacrimo-Auriculo-Dento-Digital syndrome) |
3 |
- |
| Lafora Body disease
(Myoclonic Progressive Familial Epilepsy) |
0 |
- |
| Lambert-Eaton Myasthenia syndrome
(LEMS) |
1 |
- |
| Lance Adams syndrome
|
3 |
- |
| Landau-Kleffner syndrome
|
11 |
|
| Langer Mesomelic Dysplasia
|
3 |
- |
| Langer-Giedion syndrome
(Trichorhinophalangeal syndrome Type 2) |
8 |
- |
| Langerhan's Cell Histiocytosis
|
4 |
- |
| Larsen syndrome
|
14 |
- |
| Larsen-Johansen syndrome
|
0 |
- |
| Laryngeal Cleft
(Laryngotracheoesophageal Cleft) |
12 |
- |
| Laryngeal Dystonia
|
0 |
- |
| Laryngeal Web
|
3 |
- |
| Laryngomalacia
(Epiglottopexy) |
9 |
- |
| Latex Allergy
|
2 |
- |
| Lazy Leucocyte syndrome
|
0 |
- |
| Lead Poisoning
|
1 |
- |
| Learning Disability
|
83 |
|
| Leber's Congenital Amaurosis
(Leber Amaurosis) |
28 |
|
| Leber's Optic Neuropathy
(Leber's Optic Atrophy; Leber Hereditary Optic Atrophy; Leber Optic Atrophy) |
2 |
- |
| Leigh's disease
|
29 |
- |
| Leiner syndrome
(Erythroderma Desquamatirum) |
0 |
- |
| Lennox-Gastaut syndrome
|
31 |
|
| Leopard syndrome
(Multiple Lentignes syndrome) |
7 |
- |
| Leprechaunism
|
0 |
- |
| Leptin Deficiency
|
0 |
- |
| Lesch-Nyhan syndrome
|
16 |
- |
| Letterer-Siwe Disese
|
0 |
- |
| Leucocyte Adhesion Defect
|
0 |
- |
| Leukaemia
(Chronic Myelomonocytic Leukaemia; CMML) |
2 |
- |
| Leukodystrophy
|
17 |
- |
| Leukopaenia
|
0 |
- |
| Levine-Critchley syndrome
(Choreoacanthocytosis; Chorea-acanthocytosis; ChAc) |
0 |
- |
| Lewy Body disease
|
0 |
- |
| Leydig Cell Aplasia
|
0 |
- |
| LGL
|
0 |
- |
| Lhermitte Duclos syndrome
(Dysplastic Ganglioma) |
2 |
- |
| Li-Fraumeni syndrome
|
7 |
- |
| Lichen Planus
(Hallopeau's 1) |
0 |
- |
| Lichen Sclerosus
(Balanitis Xerotica Obliterans; BXO; Vulval lichen sclerosus) |
0 |
- |
| Liddle syndrome
|
0 |
- |
| Limb Abnormalities
|
5 |
- |
| Limb Girdle Muscular Dystrophy
|
0 |
- |
| Linear IgA
|
1 |
- |
| Linear IgA Bullous Dermatosis
|
0 |
- |
| Lipodystrophy
(Berardinelli Lipodystrophy; Mandibuoacral Dysplasia; MAD; Familial Partial Lipodystrophy) |
0 |
- |
| Lipomyelomeningocele
|
5 |
- |
| Lissencephaly
(ILS) |
22 |
|
| Listeriosis
|
0 |
- |
| Little disease
|
0 |
- |
| Liver disease
(Obstetric Cholestasis; Hyperbilirubinaemia; Wilson disease) |
2 |
|
| Lobster Claw Deformity
|
1 |
- |
| Loeys-Dietz syndrome
(LDS; Loeys Dietz syndrome; Loeys-Dietz Aortic Aneurysm syndrome) |
1 |
- |
| Loin Pain Hematuria
|
0 |
- |
| Loken-Senior syndrome
|
1 |
- |
| Long Chain 3 Hydrocylacyl COA Dehydrogenase defice
|
0 |
- |
| Long QT syndrome
(Jervell-Lange-Nielsen syndrome; Romano-Ward syndrome) |
4 |
|
| Lordosis
|
1 |
- |
| Louping Ill Virus
|
0 |
|
| Lowe syndrome
(Oculocerebrorenal syndrome) |
1 |
|
| Lower Limb Abnormalities
(Hip Dysplasia; Multiple Epiphyseal; Dysplasia) |
17 |
|
| Lown-Ganong-Levene syndrome
|
0 |
- |
| Lowry-Wood syndrome
|
0 |
- |
| Lujan-Fryns syndrome
(X-Linked Mental Retardation-Marfinoid Habitus syndrome) |
1 |
- |
| Lumbo-Sacral Plexopathy
|
0 |
- |
| Lung Cysts
(Cystic Lung syndrome) |
0 |
- |
| Lung diseases
(Spontanous Pneumothorax; Pulmonary Fibrosis) |
4 |
|
| Lupus
(SLE; Systemic Lupus Erythematosis) |
7 |
|
| Lyme disease
|
0 |
- |
| Lymophoedema
(Nonne-Milroy-Meige syndrome; Milroy's) |
2 |
|
| Lymphangioleiomyomatosis
|
0 |
- |
| Lymphangioma
(Lymphangioma of Abdomen; Lymphangioma of Tongue) |
10 |
- |
| Lymphangiomatosis of the Bone
|
7 |
- |
| Lymphatic Malformation
(Cystic Hygroma) |
31 |
|
| Lymphoedema Microcephaly and Chorioretinopathy
|
1 |
- |
| Lymphoid Nodular Hyperplasia
|
0 |
- |
| Lymphoma
|
0 |
- |
| Macleod syndrome
|
0 |
- |
| Macro-adenoma
|
0 |
- |
| Macrocephaly
(Benign Familial Macrocephaly; Familial Macrocephaly) |
8 |
- |
| Macrocephaly - Cutis Marmorata Telangiectatica Congenita
(M-CMTC) |
25 |
|
| Macular disease
|
0 |
- |
| Macular Dystrophy
|
1 |
- |
| Madelungs Deformity
|
10 |
- |
| Maffucci syndrome
|
2 |
- |
| Mainzer-Salidino Retinal Dysplasia
|
0 |
- |
| Majewski Osteodysplastic Primordial Dwarfism
( Caroline Crachami osteodysplastic primordial dwarfism; MOPD) |
2 |
- |
| Majewski Osteodysplastic Primordial Dwarfism Type II
((MOPD II)) |
0 |
- |
| Majewski syndrome
|
0 |
- |
| Mal de Debarquement syndrome
|
0 |
- |
| Male Balding
(Male Pattern Hair Loss; Androgenetic Alopecia; male hairloss) |
0 |
- |
| Malignant Histiocytosis
|
0 |
- |
| Malignant Hyperthermia
(Malignant Hyperpyrexia) |
3 |
|
| Malpuech Facial Clefting syndrome
(Malpuech syndrome) |
0 |
- |
| Manic Depression
|
0 |
- |
| Maple Syrup Urine disease
|
1 |
- |
| Marcus Gunn syndrome
(Jaw Winking syndrome) |
39 |
- |
| Marden-Walker syndrome
|
1 |
- |
| Marfan syndrome
|
7 |
|
| Marinesco-Sjorgen syndrome
|
0 |
- |
| Marion's syndrome
|
0 |
- |
| Mariteaux Lamy disease
|
0 |
- |
| Maroteaux-Spranger-Wiedemann
(Metatrophic Dwarfism Type I) |
0 |
- |
| Marshall syndrome
|
0 |
- |
| Marshall-Smith syndrome
|
3 |
- |
| Martsolf syndrome
|
0 |
- |
| Maternal PKU
(Maternal Phenylkentouria) |
1 |
- |
| Maturity Onset Diabetes of the Young
|
0 |
- |
| Maxillonasal Dysplasia
(Binder syndrome) |
0 |
- |
| May-Hegglin Anomaly
|
0 |
- |
| Mayer-Rokintansky-Kuster-Hauser
|
0 |
- |
| MCADD
(Medium Chain Acyl-CoA Dehydrogenase Deficiency; MCAD) |
11 |
- |
| McArdle disease
|
0 |
- |
| McCune-Albright syndrome
(Albright syndrome; Polyostotic Fibrous Dysplasia) |
22 |
- |
| McLeod syndrome
(McLeod Acanthocytosis syndrome) |
0 |
- |
| Meckel-Gruber syndrome
(Meckel syndrome) |
21 |
- |
| Medullary Sponge Kidney
|
0 |
- |
| Medulloblastoma
|
1 |
- |
| Medulloepithelioma
(Diktyoma) |
0 |
- |
| Meesmann syndrome
|
1 |
- |
| Meesmanns syndrome
|
1 |
- |
| Megacystis-microcolon-intestinal Hypoperistalis Sy
|
4 |
- |
| Megalencephaly
(Macrencephaly) |
0 |
- |
| Megalencephaly Polymicrogyria Polydactyl syndrome
|
1 |
- |
| Megaloblastic Aaemia
|
0 |
- |
| Megalocornea Mental Retardation syndrome
|
0 |
- |
| MEHMO
(Mental retardation, Epileptic seizures, Hypogenitalism, Microcephaly and Obesity) |
0 |
- |
| Melanocytic Naevus
|
0 |
- |
| MELAS
(Melas syndrome
) |
1 |
- |
| Melkersson Rosenthal syndrome
|
1 |
- |
| Melnick-Needles syndrome
(Osteodysplasy; Melnick-Needles Osteodysplasty) |
0 |
|
| Melorheostosis
|
0 |
- |
| Menière's disease
(Endolymphatic Hydrops) |
0 |
- |
| Meningioma
|
0 |
- |
| Meningitis
|
7 |
|
| Meningococcal Septicaemia
|
1 |
- |
| Meningoencephalomyelitis
|
0 |
- |
| Menkes syndrome
(Kinky Hair syndrome) |
1 |
- |
| Mental Handicap
|
2 |
- |
| Mental Health
(Post Natal Depression) |
3 |
|
| Mental retardation aphasia shuffling gait adducted thumbs
(MASA syndrome; Adducted thumb syndrome) |
1 |
- |
| Mesangiocapillary Glomerulonephritis
|
0 |
- |
| Metabolic Aciduria
|
1 |
- |
| Metabolic diseases
|
7 |
|
| Metachondromatosis
|
0 |
- |
| Metachromatic Leukodystrophy
|
2 |
- |
| Metaphyseal Acroscyphodysplasia
|
0 |
- |
| Metaphyseal Anadysplasia
|
0 |
- |
| Metaphyseal Chondrodysplasia
|
1 |
- |
| Metaphyseal Chondrodysplasia (Type McKusick)
(Cartilage Hair Hypoplasia) |
1 |
- |
| Metatarsus adductus
|
1 |
- |
| Methaemogloulinaemia
|
0 |
- |
| Methionine Adenosyl Transferase
|
0 |
- |
| Methionine Synthase Deficiency
|
0 |
- |
| Methylenetetrahydrofolate Reductase Deficiency
|
0 |
- |
| Methylglutaconic Aciduria
|
1 |
- |
| Methylmalonic Aciduria
|
3 |
- |
| Mevalonic Aciduria
|
0 |
- |
| Mibellis
(Porokerotosis) |
0 |
- |
| Microcephaly
|
107 |
|
| Microcephaly and Lymphoedema
|
0 |
- |
| Microgyria
|
0 |
- |
| Micropenis
|
5 |
- |
| Microphthalmia
|
6 |
- |
| Microtia
|
23 |
- |
| Microvillus Atrophy
|
0 |
- |
| Mid-Aortic syndrome
|
0 |
- |
| MIDAS syndrome
(Microphthalmia with Linear Skin Defects; MLS; Microphthalmia; Dermal Aplasia and Sclerocornea) |
0 |
- |
| Migraine
(Vertebrobasilar Migraine) |
3 |
|
| Mild SMA
|
0 |
- |
| Miller Dieker syndrome
|
3 |
- |
| Miller syndrome
|
0 |
- |
| Miller-Fisher syndrome
|
0 |
- |
| Minimal Brain Dysfunction
|
1 |
- |
| Mirror Movements
|
0 |
- |
| Miscarriage
|
1 |
- |
| Mitchell's II syndrome
(Barraquer-Simons syndrome; Partial Lipodystrophy) |
4 |
- |
| Mitochondrial Cytopathies
(Pearson syndrome; Neuropathy; Ataxia; Retinitis Pigmentosa) |
5 |
- |
| Mitochondrial Myopathy
|
13 |
- |
| Mitral Valve Prolapse syndrome
(Barlow syndrome) |
1 |
- |
| Mitral Valve Stenosis
|
0 |
- |
| Mixed Connective Tissue disease
|
0 |
- |
| Moebius Sequence/syndrome
|
16 |
- |
| Molluscum Contagiosum
|
0 |
- |
| Molybdenum Cofactor Deficiency
|
0 |
- |
| Momo syndrome
(Macrosomia Obesity Macrocephaly Ocular Abnormality syndrome) |
6 |
- |
| Monamine Oxidase Deficiency
(MOAD) |
0 |
- |
| Monarticular Arthritis
|
0 |
- |
| Monilethrix syndrome
|
0 |
- |
| Monoclonal Gammopathy
|
0 |
- |
| Monoclonal Globulinopathy of Unknown Significance
|
1 |
- |
| Mononeuritis Multiplex
(Neuritis Multiplex Cutanea) |
0 |
- |
| Mononeuropathy
|
0 |
- |
| Monosomy 1p36 deletion syndrome
|
29 |
- |
| Moore-Federman syndrome
|
1 |
- |
| Morning Glory syndrome
|
0 |
- |
| Mosaic Down's syndrome
|
3 |
- |
| Mosaic Variegated Aneuploidy
|
0 |
- |
| Mosaic XO/XY Turner syndrome
|
12 |
- |
| Motor Neurone disease
(Progressive Bulbar Palsy; Progressive Muscular Atrophy; Amyotrophic Lateral Sclerosis) |
3 |
- |
| Moulded Baby syndrome
|
0 |
- |
| Mowat-Wilson syndrome
(Microcephaly-Mental Retardation syndrome) |
14 |
|
| Moya Moya syndrome
(Leeds syndrome) |
2 |
- |
| Muckle-Wells syndrome
(Urticaria-Deafness-Amyloidosis syndrome; UDA syndrome) |
2 |
- |
| Mucolipidosis
|
1 |
- |
| Mucopolysaccharide diseases
(Mannosidosis; Sanfilippo syndome; ML II; ML IV; Multiple Sulphatese Deficiency; Morquio disease; ML III) |
6 |
|
| Mulibrey Nanism
|
0 |
- |
| Multi Resistant Staphlococcus Aureus
(MRSA) |
0 |
- |
| Multi-Infarct Dementia
|
0 |
- |
| Multicore/Minicore disease
(Minicore disease) |
0 |
- |
| Multicystic Dysplastic Kidney
|
8 |
- |
| Multifocal atrial tachycardia
|
0 |
- |
| Multifocal Infantile Myofibromatosis
|
0 |
- |
| Multifocal Motor Neuropathy
|
1 |
- |
| Multiple Aneurysms
|
0 |
- |
| Multiple Births
(Siamese Twins; Twins with Special Needs) |
2 |
|
| Multiple Chemical Sensitivity
|
0 |
- |
| Multiple Endocrine Neoplasia
|
0 |
- |
| Multiple Endocrine Neoplasia (Type I)
|
0 |
|
| Multiple Endocrine Neoplasia (Type II)
|
0 |
|
| Multiple Epiphyseal Dysplasia
|
2 |
- |
| Multiple Epitheliomata
|
0 |
- |
| Multiple Haemangioma
|
0 |
- |
| Multiple Hormone Deficiencies
|
6 |
- |
| Multiple Pterygum syndrome
|
0 |
- |
| Multiple Sclerosis
(Encephalomyelitis Disseminated - Acute; MS) |
9 |
|
| Multiple System Atrophy
|
0 |
- |
| Multisystem Vasculitis disorder
|
0 |
- |
| Munchausen syndrome
|
0 |
- |
| Muscle Eye Brain disease
(MEB; Santavuori's syndrome) |
0 |
- |
| Muscular Dystrophy
|
1 |
|
| Myalgic Encephalomyelitis
(Chronic Fatigue syndrome; ME ; Post Viral Fatigue syndrome; Viral Fatigue syndrome) |
13 |
|
| Myasthenia Gravis
|
0 |
- |
| Mycobacterium Avium
|
0 |
- |
| Mycobacterium Avium Intracellulare
|
0 |
- |
| Mycoplasm Encephalitis
|
1 |
- |
| Mycosis Fungoides
|
0 |
- |
| Myelin Deficiency
(Delayed Myelination) |
16 |
- |
| Myelodysplastic syndrome
|
1 |
- |
| Myocarditis
|
0 |
- |
| Myoclonic Astatic Epilepsy
(Doose syndrome) |
5 |
- |
| Myoclonic Epilepsy
|
23 |
- |
| Myoclonus
|
1 |
- |
| Myokymia with Periodic Ataxia
(Neuromyotonia and Myokymia) |
0 |
- |
| Myoshi Myopathy
|
0 |
- |
| Myotonic Dystrophy
(Steinert syndrome) |
23 |
- |
| Myotonic Periodic Paralysis
|
0 |
- |
| Myotubular Myopathy
(Centronuclear Myopathy) |
4 |
- |
| Naevus Sebaceous
(Nevus Sebaceous) |
0 |
- |
| Nager syndrome
(Acrofacial dysostosis) |
3 |
- |
| Nail Dysplasia
(20 Nail DystrophyDenny) |
0 |
- |
| Nail-Patella syndrome
(Turner-Kieser syndrome; Hereditary Osteo-Onycho Dysplasia; Fong's disease) |
13 |
|
| Nance-Horan syndrome
|
0 |
- |
| Narcolepsy
(Gelineau syndrome) |
5 |
|
| Narcoplexy
(Cataplexy) |
0 |
- |
| NCL
|
0 |
- |
| Near Drowning
|
0 |
- |
| Necrotising Enterocolitis
|
6 |
- |
| Necrotising Fasciitis
|
1 |
- |
| Nemaline Myopathy
|
0 |
- |
| Neonatal Abstinence syndrome
|
0 |
- |
| Neonatal alloimmune thrombocytopenia
(Fetomaternal alloimmune thrombocytopenia ; NAIT; FMAIT) |
2 |
- |
| Neonatal disorders
|
1 |
- |
| Nephrocalcinosis
|
0 |
- |
| Nephrogenic Diabetes Insipidus
|
2 |
- |
| Nephrotic syndrome
(Nephrosis) |
27 |
|
| Nervous Tic
|
0 |
- |
| Netherton syndrome
|
8 |
- |
| Neualonic Aciduria
|
0 |
- |
| Neuhauser syndrome
|
0 |
- |
| Neuralgic Amyotrophy
(Parsonage Turner syndrome) |
0 |
- |
| Neuroacanthocytosis
|
0 |
|
| Neuroaxonal Dystrophy
(Seitelberger disease; Infantile Neuroaxonal Dystrophy) |
0 |
- |
| Neuroblastoma
|
3 |
|
| Neurocutaneous Melanosis
|
0 |
- |
| Neuroectodermal disorder
|
0 |
- |
| Neurofibromatosis
(Von Recklinghausen disease) |
52 |
|
| Neurointestinal Dysplasia
|
1 |
- |
| Neurological Features
|
2 |
- |
| Neuromuscular disorders
|
4 |
- |
| Neuronal Ceroid Lipofuscinosis Type 1 (Infantile)
|
1 |
- |
| Neuronal Ceroid Lipofuscinosis Type 2 (late infant
|
0 |
- |
| Neuronal Ceroid Lipofuscinosis Type 3 (Juvenile)
|
0 |
- |
| Neuronal Dysplasia
|
0 |
- |
| Neuronal Migration disorder
(Double Cortex syndrome; Neuromigratory disorder; Subcortical band heteretropia) |
1 |
- |
| Neuropathic Pain disorder
|
0 |
- |
| Neurotransmitter disease
|
0 |
- |
| Neurovisceral Storage disease
|
0 |
- |
| Neutrophil disorders
|
1 |
- |
| Neville disease
|
0 |
- |
| Nicolaides-Baraitser syndrome
(SPARSE HAIR AND MENTAL RETARDATION) |
6 |
- |
| Niemann-Pick disease
(Sphingomyelin Lipidosis) |
4 |
|
| Niemann-Pick disease Type A
|
0 |
- |
| Night Terrors
|
0 |
- |
| Nijmegan Breakage syndrome
|
0 |
- |
| Non Functional Bowel
|
5 |
- |
| Non Verbal Learning Difficulty
(NLD) |
21 |
- |
| Non- Bullouos Ichthyosiform Erythroderma
|
0 |
- |
| Non-Bullous Ichthyosiform Erythroderma
|
1 |
- |
| Non-Epileptic Seizures
(Pseudsoseizures) |
5 |
- |
| Non-Hodgkin's Lymphoma
|
1 |
- |
| Non-Ketotic Hyperglycaemia
|
1 |
- |
| Noonan syndrome
|
47 |
- |
| Norman Roberts syndrome
|
4 |
- |
| Normokalaemic Periodic Paralysis
|
0 |
- |
| Norrie disease
(Norries) |
4 |
- |
| Nystagmus
(Spasmus nutans; Congenital Idiopathic Nystagmus) |
33 |
|
| Nystagmus and Astigmatism
|
9 |
- |
| Obesity
|
1 |
- |
| Obesity-Hypoventilation syndrome
|
0 |
- |
| Obsessive Compulsive disorder
(OCD) |
21 |
|
| Obstetric Cholestasis
|
0 |
- |
| Ocular Albinism
|
2 |
- |
| Ocular Cerebral Hypopigmentation syndrome
|
0 |
- |
| Ocular disorders
(Drusen syndrome) |
0 |
- |
| Ocular Pemphigoid
|
1 |
- |
| Oculo-Dento-Digital syndrome
|
8 |
- |
| Oculocerebrocutaneous syndrome
(Delleman syndrome) |
1 |
- |
| Oesophagael dysmotility
(Esophageal Motility disorders; esophageal dysmotility) |
0 |
- |
| Oesophageal Atresia
|
2 |
- |
| Oesophageal dysmotility
(Esophageal Motility disorders; esophageal dysmotility) |
0 |
- |
| OHDO syndrome
|
5 |
|
| Ohtahara syndrome
(Early Infantile Epileptic Encephalopathy; EIEE) |
20 |
|
| Okihiro syndrome
|
2 |
- |
| Olivopontocerebellar Degeneration/Atrophy
|
0 |
- |
| Ollier's disease
(Enchondromatosis) |
41 |
- |
| Olmodysplasia
|
0 |
- |
| Omenn's syndrome
|
5 |
- |
| Opercular syndrome
(Foix Chavany-Marie syndrome) |
0 |
- |
| Opitz BBB syndrome
(BBB syndrome; Opitz G syndrome; Opitz-Frias syndrome; dysphagia-hypospadias syndrome; hypertelorism-oesophageal abnormality; hypospadias-dysphagia syndrome.
) |
10 |
- |
| Opitz syndromes
|
4 |
- |
| Opitz-Christian syndrome
(Hypertelorisim-Hypospadias; Christian-Opitz syndrome) |
0 |
- |
| Optic Glioma
|
4 |
- |
| Optic Nerve Atrophy
|
7 |
- |
| Optic Nerve Dysplasia
|
3 |
- |
| Optic Nerve Hypoplasia
|
30 |
- |
| Optic Neuritis
|
2 |
- |
| Optic Neuromyelitis
|
0 |
- |
| Oral Dyspraxia
|
23 |
- |
| Oral-Facial-Digital syndrome Type VI
|
0 |
- |
| Oral-Facial-Digital syndromes
(OFD syndrome; Varadi-Papp syndrome; Mohr syndrome; Orofaciodigital syndrome) |
3 |
- |
| Orchidoplastyy
|
0 |
- |
| Organic Acidaemias
|
1 |
- |
| Organic Brain Dysfunction
|
1 |
- |
| Organo-Axial Malrotation of the Stomach
|
1 |
- |
| Ornithinaemia
|
0 |
- |
| Ornithine Transcarbamylase Deficiency
(OTC) |
17 |
- |
| Oromandibular Dystonia
|
0 |
- |
| Osgood Schlatter syndrome
|
0 |
- |
| Osteoarthritis
|
11 |
- |
| Osteochondritis of the Upper Femoral Epiphysis
|
0 |
- |
| Osteofibrous Dysplasia
|
4 |
- |
| Osteogenesis Imperfecta
|
9 |
- |
| Osteoitis Pubis
|
1 |
- |
| Osteomyelitis
(Benign Relapsing Multi-Focal Osteomyelitis) |
0 |
- |
| Osteopathia Striata
|
7 |
- |
| Osteopenia
|
0 |
- |
| Osteopetrosis
(Albers-Schonberg syndrome) |
0 |
|
| Osteopoikilosis
|
1 |
- |
| Osteoporosis
|
2 |
- |
| OTA's syndrome
(Ocular Dermal Melanocytosis) |
0 |
- |
| Othello syndrome
(morbid jealousy; conjugal paranoia; erotomania; Clerambault syndrome; folie à deux; late paraphrenia) |
2 |
- |
| Otitis Media
|
0 |
- |
| Oto-palato-digital syndrome
|
0 |
- |
| Otofaciocervical syndrome
|
0 |
- |
| Otosclerosis
|
0 |
- |
| Owren disease
|
0 |
- |
| Oxalosis
|
1 |
- |
| Oxycephaly
(Turricephaly) |
0 |
- |
| Oxygen Dependency
|
0 |
- |
| Pachydermoperiostosis
(Touraine-Solenti-GolT syndrome) |
0 |
- |
| Pachygyria
|
8 |
- |
| Pachymyelitis
|
0 |
- |
| Pachyonichia Congenita
|
0 |
- |
| Paget's disease
(Paget's disease of the Bone; Paget disease) |
0 |
- |
| Palatal Myoclonus
|
2 |
- |
| Pallidol Degeneration
|
0 |
- |
| Pallister Killian syndrome
|
8 |
|
| Pallister-Hall syndrome
|
1 |
- |
| Panayiotopoulos syndrome
(early-onset benign partial epilepsy with occipital paroxysms) |
5 |
- |
| Pancreatitis
|
0 |
|
| PANDAS
(Paediatric Autoimmune Neuropsychiatric disorders Associated with Streptococcal Infections) |
4 |
- |
| Panhypopituitarism
|
13 |
- |
| Panniculitis
|
0 |
- |
| Pantothenate Kinase Associated Neurodegeneration
(PKAN; Neurodegeneration with Brain Iron Accumulation; Hallervorden-Spatz syndrome) |
0 |
- |
| Paraganglioma
|
0 |
- |
| Paraneoplastic syndrome
|
0 |
- |
| Paraplegia
|
1 |
- |
| Parinauds syndrome
|
0 |
- |
| Parkinson's disease
(Parkinsonism; Parkinson's Plus) |
1 |
|
| Paroxysmal Cold Hemoglobulinuria
|
0 |
- |
| Paroxysmal extreme pain disorder
(PEPD; FRP; Hayden-Grossman syndrome; Familial rectal pain) |
5 |
- |
| Paroxysmal Nocturnal Hemoglobinurea
|
0 |
- |
| Paroxysmal Torticollis
|
0 |
- |
| Parry-Romberg syndrome
(Romberg syndrome) |
1 |
- |
| Partial Paralysis
|
0 |
- |
| Partial Villus Atrophy
|
0 |
- |
| Parvo-virus infection B19
(Fifth disease; Slapped cheek/jaw syndrome) |
0 |
- |
| Patau syndrome
(Pseudotrisomy 13; Trisomy 13; Chromosome 13 Trisomy) |
2 |
|
| Pathological Demand Avoidance syndrome
(PDA) |
24 |
|
| Patin syndrome
|
0 |
- |
| Patterson-Brown-Kelly syndrome
|
0 |
- |
| Patterson-Stevenson-Fontaine-syndrome
|
0 |
- |
| Pauci-articular Arthritis
|
0 |
- |
| PCD
|
1 |
- |
| Pearson syndrome
|
1 |
- |
| Pectus Excavatum
|
3 |
- |
| PEHO syndrome
(Progressive Encephalopathy with Edema; Hypsarrythmia Optic Atrophy) |
4 |
- |
| Pelizaeus-Merzbacher syndrome
|
3 |
- |
| Pemphigus Vulgaris
|
1 |
|
| Pena-Shokeir I syndrome
(Fetal Akineasia Deformation Sequence) |
0 |
- |
| Pena-Shokeir II syndrome
(COFS syndrome; Cerebro-Oculo-Facio-Skeletal syndrome) |
0 |
- |
| Pendred syndrome
|
7 |
- |
| Penta X syndrome
(XXXXX syndrome) |
1 |
- |
| Pentalogy of Cantrell
|
13 |
- |
| Peripheral Neuropathy
(Polyneuropathy; Chronic Hereditary Polyneuropathy; Mononeuritis Multiplex) |
4 |
|
| Peripheral Primitive Neuroectodermal Tumour
|
0 |
- |
| Periventricular Leukomalacia
|
32 |
- |
| Perlman syndrome
|
0 |
- |
| Pernicious Anaemia
|
1 |
- |
| Peroxisomal Defect
|
0 |
- |
| Persistant Hyperplastic Primary Vitreous
|
2 |
- |
| Persistent Cloaca
|
0 |
- |
| Perthes disease
(Larsen-Johansson syndrome; Osteochondritis of the Upper Femoral Epiphysis; Epiphyseal Dysplasia) |
35 |
|
| Pervasive Refusal syndrome
|
7 |
- |
| Pes Cavus
|
0 |
- |
| Peter's Anomaly
|
8 |
- |
| Peter's Plus syndrome
(Peter's Plus Anomaly) |
12 |
- |
| Peutz-Jeghers syndrome
(Multiple Poliposis) |
0 |
- |
| PFAPA syndrome
|
2 |
- |
| Pfeiffer syndrome
|
5 |
- |
| Phacomoatosis Pigmentokeratotica
|
1 |
- |
| Phaeochromocytoma
|
0 |
- |
| Phelan-McDermid syndrome
(Deletion 22q13 syndrome) |
20 |
- |
| Phenylketonuria
(PKU) |
3 |
|
| Pheochromocytoma
|
0 |
- |
| Phobias
|
2 |
- |
| Phocomelia
|
0 |
- |
| Photosensitivity
|
0 |
- |
| PICA
|
0 |
- |
| Pickwickian syndrome
|
0 |
- |
| Pierpont syndrome
( Plantar lipomatosis; unusual facial phenotype and developmental delay) |
4 |
- |
| Pierre Robin syndrome
|
26 |
- |
| Pigment Epithelium retinal detachment
|
0 |
- |
| Pilocystic Astrocytoma
|
0 |
- |
| Pinealoma
|
0 |
- |
| Piriton Allergy
|
0 |
- |
| Pitt-Hopkins syndrome
|
12 |
- |
| Pitt-Rogers-Danks syndrome
(Pitt syndrome) |
0 |
- |
| Pituitary Deficiency
|
5 |
- |
| Pituitary disorders
(Hypopituitarism; Diabetes Insipidus) |
8 |
|
| Pityriasis Ruba Pilaris
|
0 |
- |
| Pityriasis Versicolor
|
0 |
- |
| Plagiocephaly
|
6 |
- |
| Plasminogen Activator Deficiency
|
0 |
- |
| Plastic Bronchitis
|
0 |
- |
| Platelet Function disorders
|
1 |
- |
| Platelet Storage-Pool disease
|
0 |
- |
| Pleuro-pulmonary blastoma
|
0 |
- |
| Plott syndrome
|
0 |
- |
| Pneumatosis Cystoides Intestinalis
|
0 |
- |
| Pneumonia
|
0 |
- |
| POEMS syndrome
(Crow-Fukase syndrome) |
0 |
- |
| Poisoning
|
1 |
- |
| Poland syndrome
|
1 |
|
| Poliomyelitis
(Infantile Paralysis) |
3 |
|
| Pollitt syndrome
|
0 |
- |
| Polumyalgica Rheumatica
|
0 |
- |
| Polyarteritis Nodosa
(Kussmaul-Maier syndrome; Periarteritis Nodosa) |
4 |
- |
| Polyarthritis
|
1 |
- |
| Polyarticular Arthritis
|
8 |
- |
| Polychondritis
|
1 |
- |
| Polycystic Kidney and Lung Hypoplasia
|
0 |
- |
| Polycystic Ovaries
|
2 |
|
| Polycythemia
|
0 |
- |
| Polycythemia Vera
|
1 |
- |
| Polydactyly
|
1 |
- |
| Polymicrogyria
|
27 |
- |
| Polymorphic Light Eruption
(PLE) |
0 |
- |
| Polyneuropathy
|
0 |
- |
| Polysplenia
(Bilateral left-sidedness) |
0 |
- |
| Pompe disease
|
1 |
- |
| Pompholyx
|
0 |
- |
| Pontine Tegmental Cap Dysplasia
(PTCD) |
0 |
- |
| Pontocerebellar Hypoplasia
|
31 |
- |
| Popliteal Pterygium syndrome
(Popliteal Web syndrome) |
7 |
- |
| Porencephalic cyst
|
9 |
- |
| Porencephaly
(Cystic Encephalomalacia) |
9 |
- |
| Porphyria
|
0 |
|
| Porphyria Cutanea Tarda
|
0 |
- |
| Portal Hypertension
|
0 |
- |
| Portal Vein Interopathy
|
0 |
- |
| Post Polio syndrome
|
2 |
- |
| Post Polymorhous Corneal Dystrophy
|
0 |
- |
| Post Traumatic Stress disorder
|
3 |
- |
| Posterior Urethral Valves
(PUV) |
7 |
- |
| Postgastrectomy Dumping syndrome
|
0 |
- |
| Posthypoxic Myoclonus
|
1 |
- |
| Potter syndrome
(Oligohydramnios) |
1 |
|
| Powassan Virus
|
0 |
|
| Prader-Willi syndrome
(Prader-Willi-Labhart) |
19 |
|
| Pre-eclampsia
(HELLP; EPH Gestosis; Metabolic Toxaemia of Late Pregnancy; Pre-eclamptic Toxaemia; Pregnancy Induced Hypertension; Toxaemia in pregnancy) |
6 |
- |
| Pre-Natal Depression
|
0 |
- |
| Preauricular Pits
|
1 |
- |
| Premature Ejaculation
|
0 |
- |
| Premature Sexual Maturation
(Precocious Puberty) |
4 |
|
| Pressure Palsy
|
0 |
- |
| Presumed Ocular Histoplasmosis
|
0 |
- |
| Primary Aphakia
|
1 |
- |
| Primary Ciliary Dyskinesia
(Immotile ciliary syndrome; Immotile ciliary dysfunction) |
2 |
|
| Primary Hypoparathyroidism
|
1 |
- |
| Primary Immune Deficiencies
(C1 Inhibitor deficiency; Leukocyte Adhesion Defect; Interferon Gamma Deficiency; ) |
5 |
|
| Primary Lateral Sclerosis
|
0 |
- |
| Primary Pulmonary Hypertension
|
4 |
|
| Prion diseases
|
0 |
- |
| Proboscis Lateralis
|
0 |
- |
| Proctalgia Fugax
|
1 |
- |
| Progeria
|
0 |
- |
| Progeroid syndrome (Neonatal)
|
0 |
- |
| Progressive Multifocal Leukoencephalopathy
|
0 |
- |
| Progressive Myoclonus Epilepsy
|
1 |
- |
| Progressive Osseous Heteroplasia
|
0 |
- |
| Progressive Supranuclear Palsy
(Richardson-Steele-Olszewski syndrome) |
0 |
- |
| Prolactinoma
|
0 |
- |
| Prolapsed Rectum
(Prolapsed Bowel) |
0 |
- |
| Prolapsed Umbilical Cord
|
0 |
- |
| Prolapsed womb
|
0 |
- |
| Properdin Deficiency
|
0 |
- |
| Propionic Acidaemia
|
2 |
- |
| Propriospinal Myoclonus
|
1 |
- |
| Protein C Deficiency
|
0 |
- |
| Protein Losing Enteropathy
|
1 |
- |
| Protein S Deficiency
|
2 |
- |
| Proteus syndrome
|
9 |
|
| Protruding Ears
|
0 |
- |
| Proximal Femoral-Focal Deficiency
|
21 |
- |
| Prune Belly syndrome
|
15 |
|
| Pschosomatic Illness
|
0 |
- |
| Pseudo Xanthoma Elasticum
(PXE) |
0 |
- |
| Pseudo-Bulbar Palsy
|
1 |
- |
| Pseudo-Hypoaldosteronism
|
4 |
- |
| Pseudoachondrodysplasia
|
2 |
- |
| Pseudoachondroplasia
|
3 |
- |
| Pseudoarthrosis
(Congenital Pseudoarthrosis) |
4 |
- |
| Pseudocholinesterase Deficiency
|
4 |
- |
| Pseudodiastrophic Dysplasia
|
1 |
- |
| Pseudoglioma
|
0 |
- |
| Pseudohypoparathyroidism Type 1b
|
0 |
- |
| Pseudoparahypothyroidism
|
0 |
- |
| Psoriasis
|
0 |
|
| Psoriatic Arthropathy
|
1 |
|
| Psuedotoxoplasmosis syndrome
|
0 |
- |
| Psychogenic Cough
|
0 |
- |
| Psychological disorders
|
0 |
- |
| Psychosis
|
4 |
- |
| Pulmonary Alveoli Mocroliathiasis
(Harbitz) |
0 |
- |
| Pulmonary Arteriovenous Malformation
(Arteriovenous Malformation of the Lung; Pulmonary AVM; Lung AVM) |
1 |
- |
| Pulmonary Atresia
|
4 |
- |
| Pulmonary atresia with intact ventricular septum
(PAIVS) |
0 |
- |
| Pulmonary Eosinophilia
|
0 |
- |
| Pulmonary Haemosiderosis
|
2 |
- |
| Pulmonary Hypertension
|
3 |
- |
| Pulmonary Hypoplasia
|
1 |
- |
| Pulmonary Stenosis
|
6 |
- |
| Pulmonary Vascular diseases in Childhood
(Pulmonary veno-occulusive disease; Invasive Pulmonary Capillary Haemangiomatosis; Embolic pulmonary vascular disease) |
0 |
- |
| Pulmonary Vein Stenosis
|
0 |
- |
| Purine and Pyrimidine Metabolic diseases
(Myoadenylate Deaminase Deficiency; Gout (Purine)) |
0 |
- |
| Purine Nucleoside Phosphorylase Deficiency
(PNP) |
1 |
- |
| Purkinje Cell Hamartoma
(Histiocytoid Cardiomyopathy) |
0 |
- |
| Pyle's disease
(Metaphyseal Dysplasia) |
0 |
- |
| Pyloric Stenosis
|
1 |
- |
| Pyoderma Gangrenosum
|
0 |
- |
| Pyridoxal Phosphate Dependent Seizures
(Pyridoxal 5'-phosphate-dependent Epilepsy) |
0 |
- |
| Pyridoxine Dependent Epilepsy
(Pyridoxine Dependent Vitamin B Deficiency; Pyridoxine Dependent Seizures; Pyridoxine Responsive Epilepsy; Pyridoxine Dependent Seizures) |
6 |
- |
| Pyrine Autism
|
6 |
- |
| Pyruvate Dehydrogenase Complex
|
3 |
- |
| Pyruvate Dehydrogenase Deficiency
|
2 |
- |
| Pyruvate Kinase Deficiency
|
0 |
- |
| Pyruvate Kinase Deficiency Hemolytic Anemia
|
1 |
- |
| Radial Aplasia
|
0 |
- |
| Raine syndrome
|
0 |
- |
| Ramsay Hunt syndrome
(Baltic Myoclonus; Unverricht-Lundborg syndrome; Unverricht-Lundborg disease; Unverricht Lundborg) |
0 |
- |
| Rapid-onset Obesity with Hypothalamic Dysfunction, Hypoventilation and Autonomic Dysregulation
(ROHHAD) |
1 |
- |
| Rapp Hodgkins
|
0 |
- |
| Rasmussens Encephalitis
|
14 |
|
| Raynaud's Phenomenon
(Erythromelalgia; Erythermalgia) |
5 |
|
| Reactive Attachment disorder
(Attachment disorder) |
15 |
- |
| Recessive Spinocerebellar Degeneration
|
0 |
- |
| Rectal Prolapse
|
0 |
- |
| Reese-Ellsworth syndrome
(Anterior Chamber Cleavage) |
0 |
- |
| Reflex Anoxic Seizures
(Pallid Infantile Syncope; Vasovagal Syncope) |
21 |
|
| Reflex Sympathetic Dystrophy
|
8 |
|
| Reflux Oesophagitis
(Barrett's Oesophagus) |
1 |
- |
| Refsum syndrome
(Infantile Refsum syndrome; Refsum disease) |
1 |
- |
| Reis-Büclers
(Reis-Bncklers) |
0 |
- |
| Reiter's syndrome
|
0 |
- |
| Relapsing Polychondritis
|
0 |
|
| Renal Coloboma syndrome
(Papillorenal syndrome) |
0 |
- |
| Renal Dysplasia
|
3 |
- |
| Renal Dystrophy
|
0 |
- |
| Renal Rickets
|
0 |
- |
| Renpenning syndrome
|
0 |
- |
| Repetitive Strain Injury
|
0 |
- |
| Reproductive System Anomalies
(Genital Abnormalities; Indeterminate Gender; Indescended Testes) |
0 |
- |
| Respiratory Distress syndrome
(Hyaline Membrane disease) |
1 |
- |
| Respiratory Synctial Virus
(RS-Virus) |
0 |
- |
| Respiratory Synkinesis
(Breathing Hands Sydnrome) |
1 |
- |
| Restless Legs syndrome
(Wittmaak-Ekbom syndrome; Ekbom syndrome) |
0 |
- |
| Restricted Growth
(Intrauterine Growth Retardation; Pseudoachondroplasia) |
0 |
|
| Reticular Dysgenesis
|
0 |
- |
| Retinitis Pigmentosa
(Bulls Eye Dystrophy; Central Areola Choroidal Dystrophy; Retinal Dystrophy; Tapeto Retinal Degenaration) |
2 |
|
| Retinoblastoma
(Cancer of the Eye) |
0 |
|
| Retinodysphasia
|
0 |
- |
| Retinopathy of Prematurity
|
2 |
- |
| Retroperitoneal Fibrosis
|
0 |
- |
| Rett syndrome
|
20 |
|
| Reye syndrome
|
0 |
|
| Rh Incompatibility
|
0 |
- |
| Rhabdoid Tumour
|
0 |
- |
| Rhabdomylosis
|
0 |
- |
| Rhabdomyoma
|
1 |
- |
| Rhabdosarcoma
|
0 |
- |
| Rhesus Incompatibility
(Haemolytic disease of the Newborn) |
0 |
- |
| Rheumatic Fever
(Acute Rheumatic Fever) |
0 |
- |
| Rheumatoid Arthritis
|
1 |
- |
| Rhinencephaly
|
0 |
- |
| Richner-Hanhart syndrome
(Richner syndrome) |
0 |
|
| Rieger's Anomaly
|
1 |
- |
| Riley-day syndrome
(Riley day) |
0 |
- |
| Ring Chromosome 18
|
0 |
- |
| Ring G Monosomy
|
1 |
- |
| Ring X
|
0 |
- |
| Ritscher-Schinzel syndrome
|
6 |
- |
| Ritters syndrome
|
0 |
- |
| Roberts syndrome
|
7 |
- |
| Robinow syndrome
(Robinow Silverman Smith syndrome) |
0 |
- |
| Robinson syndrome
|
0 |
- |
| Rod Monochromatisim
|
0 |
- |
| Rokitansky syndrome
|
27 |
- |
| Rolandic Epilepsy
|
1 |
- |
| Rosai-Dorfman disease
|
0 |
- |
| Rosenberg-Chutorian syndrome
|
0 |
- |
| Rothmund-Thomson syndrome
|
2 |
- |
| Roussy-Levy syndrome
|
1 |
- |
| Rubinstein-Taybi syndrome
(Broad Thumb-Great Toe syndrome) |
15 |
- |
| Rud syndrome
|
0 |
- |
| Ruvalcaba syndrome
|
0 |
- |
| Sacral Agenesis
|
42 |
|
| Sacrococcygeal Teratoma
|
1 |
- |
| Sacrocyccygeal Tumour
|
0 |
- |
| Sacroilliac facit joint syndrome
|
0 |
- |
| Saethre-Chotzen syndrome
|
7 |
- |
| Salla disease
|
0 |
- |
| Sandhoff disease
|
0 |
- |
| Sandifer syndrome
|
2 |
- |
| Santavuori disease
|
0 |
- |
| Santavuori-Haltia disease (Infantile)
|
0 |
- |
| Sarcoidosis
|
0 |
|
| Scaphocephaly
|
4 |
- |
| Scheie disease
|
0 |
- |
| Scheuermann's disease
(Spinal Osteochondrosis) |
3 |
- |
| Schimke Immunoosseous Dysplasia
|
2 |
- |
| Schinzel-Giedion syndrome
|
2 |
- |
| Schizencephaly
|
13 |
- |
| Schizophrenia
(Schizotypal disorder) |
3 |
|
| Schmid Type Metaphyseal Chondrodysplasia
(Metaphyseal Dysostosis Type BI; Metaphyseal Dysplasia Schmid Type) |
4 |
- |
| Schmidt syndrome
|
0 |
- |
| Schwartz-Jampel-Aberfeld syndrome
|
3 |
- |
| Scimitar syndrome
(Hypogenetic Lung) |
6 |
- |
| Sclerocornea
|
5 |
- |
| Scleroderma
(Morphoea) |
1 |
|
| Scleromyxedema
|
0 |
- |
| Scoliosis
(Spondylosis; Kyphoscoliosis) |
52 |
|
| Scotopic Sensitivity syndrome
(Meares-Irlen syndrome; Irlen syndrome) |
3 |
- |
| Scott's syndrome
|
3 |
- |
| Seasonal Affective disorder
|
0 |
- |
| Seckel syndrome
|
0 |
- |
| Secondary Arthritis
|
0 |
- |
| Secretin Adrenal Carcinoma
|
0 |
- |
| Secreting Adrenal Carcinoma
|
0 |
- |
| Segawa syndrome
|
1 |
- |
| Segmental Myoclonus
|
0 |
- |
| Segmental Spinal Dysgenesis
(SSD) |
0 |
- |
| Selective IgA Deficiency
|
0 |
- |
| Selective Mutism
(Elective Mutism) |
56 |
|
| Semantic Pragmatic disorder
(Pragmatic disorder) |
11 |
- |
| Sensitive Hearing
|
1 |
- |
| Sensory Integration Dysfunction
(Tactile Defensiveness; Olfactory Defensiveness; Sensory Defensiveness) |
31 |
- |
| Sensory Neuropathy
(Insensitivity to Pain; Multisensory Neuropathy) |
0 |
- |
| Septic Phlebitis
(Lemierre syndrome) |
0 |
- |
| Septicaemia
|
0 |
- |
| Septo Optic Dysplasia
(De Morsiers) |
46 |
- |
| Serine Deficiency
|
0 |
- |
| Serum Cholinesterase Deficiency
|
3 |
- |
| Severe Acute Respiratory syndrome
(SARS) |
0 |
- |
| Severe Combined Immunodeficiency
(SCID) |
6 |
- |
| Severe Infantile Myoclonic Epilepsy
|
16 |
- |
| Severe SMA
|
0 |
- |
| Severs disease
|
2 |
- |
| Shaken Baby syndrome
|
0 |
- |
| Shone syndrome
|
0 |
- |
| Short Bowel syndrome
|
6 |
- |
| Short Rib Polydactyly syndrome
|
0 |
- |
| Short syndrome
|
0 |
- |
| Shprintzen Goldberg (Craniofacial) syndrome
|
4 |
- |
| Shwachman-Diamond syndrome
(Shwachman syndrome) |
2 |
- |
| Shy Drager syndrome
|
0 |
- |
| Sialic Acid Storage disease
|
0 |
- |
| Sialidosis
|
0 |
- |
| Sick sinus syndrome
(Bradycardia tachycardia syndrome) |
0 |
- |
| Sickle Cell disorders
(Sickle Cell Anaemia) |
5 |
- |
| Sideroblastic Anaemia
|
0 |
- |
| Silicosis
|
2 |
- |
| Silver-Russell syndrome
(Asymmetry Dwarfism; Russell-Silver syndrome; Silver's; Russell; Silver) |
23 |
|
| Simpson-Golabi-Behmel syndrome
(Golabi-Rosen syndrome) |
13 |
- |
| Single Ventricle Cardiac disorders
|
0 |
- |
| Sinus bradycardia
|
0 |
- |
| Sinus tachycardia
|
1 |
- |
| Sinus-Histiocytosis with Massive Lymphadenopathy
|
0 |
- |
| Sinusitis
(Concha Bullosa) |
2 |
- |
| Situs Inversus
|
2 |
- |
| Sjögren Larsson syndrome
(Sjogren Larsson syndrome) |
2 |
- |
| Sjögren syndrome
(Sjogren syndrome) |
1 |
|
| Skeletal Dysplasias
|
5 |
- |
| Skeletal Problems
|
1 |
- |
| Skin disorders
|
0 |
- |
| Sleep Apnoea
|
5 |
- |
| Sleep disorders
(Rythmic Movement disorder) |
5 |
- |
| Slipped Epyphysis
|
1 |
- |
| Sly disease
|
0 |
- |
| Smith-Lemli-Opitz syndrome
(RSH syndrome; SLOS) |
17 |
- |
| Smith-Magenis syndrome
(Chromosome 17p) |
35 |
|
| Smith-Theiler-Schachenmann syndrome
(Rib Gap syndrome) |
0 |
- |
| Sneddon Wilkinson disease
|
0 |
- |
| Soft Tissue Sarcoma
|
0 |
- |
| Solar Utricaria
|
0 |
- |
| Somatising
|
0 |
- |
| Sotos syndrome
(Cerebral Gigantism in Childhood) |
36 |
- |
| Spasmodic Dysphonia
|
4 |
- |
| Spasmodic Torticollis
|
3 |
- |
| Spastic Quadriplegia
|
4 |
- |
| Speech and Language Impairment
|
78 |
|
| Spherocytosis (Hereditary)
|
33 |
- |
| Spheromicrophakia
|
0 |
- |
| Spina Bifida
(Occipital Encephalocele; Meningoencephaly) |
60 |
|
| Spinal Cerebral Ataxia
|
0 |
- |
| Spinal Cysts
(Spinal Defrayism) |
0 |
- |
| Spinal Injuries
|
6 |
|
| Spinal Muscular Atrophy
|
2 |
|
| Spinal Muscular Atrophy with Respiratory Distress
(SMARD1) |
2 |
- |
| Spinal Myoclonus
|
0 |
- |
| Spinocerebellar Ataxia
|
3 |
- |
| Splenectomy
|
0 |
- |
| Spondylo Epiphyseal Dysplasia
(SED) |
6 |
- |
| Spondylo Epiphyseal Dysplasia Tarda X-Linked
|
0 |
- |
| Spondylocostal Dysplasia
|
0 |
- |
| Spondylolisthesis
|
1 |
- |
| Sprengle's Deformity
|
3 |
- |
| Stammering
|
2 |
|
| Staphylitis
|
0 |
- |
| STAR syndrome
(Syndactyly Telecanthus Anogential and Renal; Toe Sydactyly Telecanthus and Anogenital and Renal Malformations) |
0 |
- |
| Stargardt's disease
(Stargardt's Macular Dystropy; Stargadts disease) |
14 |
|
| Stein Leventhal syndrome
|
0 |
- |
| Steroid (long term use) Induced Skin disorder
|
0 |
- |
| Steroid Abuse
|
0 |
- |
| Steroid Induced Diabetes
|
0 |
- |
| Steroid Sulphatase Deficiency
|
0 |
- |
| Stevens-Johnson syndrome
(Erythema Multiforma) |
2 |
- |
| Stickler syndrome
(Wagner syndrome; Weissen-Bacher-Zweymuller syndrome; Hereditary Progressive Arthro- opthalmopathy; Arthro-opthalmopathy) |
7 |
|
| Stiff Limb syndrome
|
0 |
- |
| Stiff Man syndrome
|
2 |
|
| Stillbirths and Neonatal Deaths
|
3 |
|
| Stomas
|
2 |
- |
| Storage Pool Platelet disease
|
1 |
- |
| Stormorken syndrome
|
0 |
- |
| Stridor
|
6 |
- |
| Stroke
(Spinal Stroke; Transient Ischaemic Attack) |
5 |
|
| Sturge-Weber syndrome
(Encephalofacial Angiomatosis; Sturge Webber syndrome) |
13 |
|
| Sub Aortic Stenosis
|
2 |
- |
| Subacute Sclerosing Panencephalitis
(SSPE) |
1 |
|
| Subcortical Dementia
|
0 |
- |
| Subcutaneous T-cell Lymphoma
|
0 |
- |
| Subglottic Stenosis
|
3 |
- |
| Succinic Semialdehyde Dehydrogonase Deficiency
(SSADH) |
1 |
- |
| Sucrose Intolerance
|
2 |
- |
| Sucrose Isomaltose Enzyme Deficiency
|
8 |
- |
| Sudden Adult Death syndrome
|
0 |
- |
| Sudden Infant Death syndrome
(SIDS) |
0 |
- |
| SUNA
(Short lasting unilateral neuralgiform headache attacks with cranial autonomic symptoms) |
0 |
- |
| Supraventricular Tachycardia
(SVT; Paroxysmal Supraventricular Tachycardia; PSVT) |
3 |
- |
| Sweet syndrome
(Acute Febrile Neutrophilic Dermatosis; neutrophilic dermatitis) |
0 |
- |
| Sydenham Chorea
(Sydenham's Chorea) |
9 |
- |
| Symbrachydactyly
|
14 |
- |
| Synaesthesia
|
0 |
- |
| Syndactyly
(Webbed Fingers/Toes) |
3 |
- |
| Synovitus
|
0 |
- |
| Syringobulbia
|
4 |
- |
| Syringoma
|
0 |
- |
| Syringomyelia
|
26 |
|
| Systemic Mastocytosis
(Diffuse Cutaneous Mastocytosis) |
5 |
- |
| T-Cell receptor signalling defect
|
0 |
- |
| T3 Toxicosis
|
0 |
- |
| Takayasu Arteritis
|
0 |
- |
| Talipes
|
26 |
- |
| TAR syndrome
(Thrombocytopenia with Absent Radii) |
11 |
|
| Tardive Dyskinesia
|
0 |
- |
| Tarui disease
|
0 |
- |
| Taussig- Bing syndrome
|
1 |
- |
| Tay Sachs disease
|
7 |
- |
| Technology Dependency
|
0 |
- |
| Tel Hashomer Camptodactyly
|
0 |
- |
| Temporal Arteritis
|
0 |
- |
| Temporal Lobe Epilepsy
|
15 |
- |
| Temporomandibular Joint syndrome
(TMJ; Temporomandibular Joint Pain Dysfunction syndrome; Costen syndrome) |
4 |
- |
| Testicular Cancer
|
0 |
- |
| Testicular Infarction
(bilateral testicular infarction) |
0 |
- |
| Tethered Spinal Cord
|
8 |
- |
| Tetrasomy X
(48XXXX; XXXX) |
3 |
- |
| Thalassaemia Major (Beta thalassaemia)
(Haemoglobin H disease; Homozygous Beta Thalassaemia; Haemoglobinopathy Hb British Columbia (A); Mediteranean Anaemia) |
0 |
|
| Thalidomide
|
0 |
- |
| Thanatophoric Dysplasia/Dwarfism
|
0 |
- |
| Thomsen disease
|
1 |
- |
| Thoracic Outlet syndrome
|
0 |
- |
| Three M syndrome
|
0 |
- |
| Thrombocythemia
|
0 |
- |
| Thrombocytopenia
|
3 |
- |
| Thrombocytosis
|
0 |
- |
| Thrombophilia
|
1 |
- |
| Thrombotic Thrombocytopenic Purpura
(TTP; Moschcowicz syndrome) |
2 |
- |
| Thyroglossal Cyst
|
0 |
- |
| Thyroid Aplasia
|
0 |
- |
| Thyroid disorders
|
7 |
|
| Thyroid Eye disease
(Thyroid Ophthalmopathy; Thyroid Associated Ophthalmopathy; Graves' Eye disease; Graves' Ophthalmopathy
) |
1 |
|
| Tibial Hemimelia
(Congenital Longitudinal Deficiency of the Tibia) |
0 |
- |
| Tic disorders
|
4 |
- |
| Tick Borne Encephalitis
|
0 |
- |
| Timothy syndrome
(Long QT with Syndactyly) |
2 |
- |
| Tinnitus
(Post-natal Tinnitus) |
0 |
|
| Tnf Receptor Associated Periodic syndrome
(TRAPS) |
0 |
- |
| Todd's Paralysis
|
2 |
- |
| Toddler Diarrhoea
|
0 |
- |
| Toe walking
|
0 |
- |
| Tolosa Hunt syndrome
|
0 |
- |
| Tongue Tie
(Ankyloglossia) |
1 |
- |
| Tooth and Nail syndrome
|
0 |
- |
| TORCH syndrome
(Toxoplasmosis; Rubella; Cytomegalovirus; Herpes syndrome) |
0 |
- |
| Toriello-Carey syndrome
|
4 |
- |
| Torre Muir syndrome
(Cutaneous Sebaceous Neoplasms and Keratoacanthomas; Multiple with Gastrointestinal and other Carcinomas) |
2 |
- |
| Torsion Dystonia
|
0 |
- |
| Torsion of the Testicle
|
0 |
- |
| Torticollis
|
4 |
- |
| Tourette syndrome
(Guinon's Myospasia Impulsiva; Coprolalia Generalised Tic; Brissaud's II; Gilles de la Tourette) |
36 |
|
| Townes-Brocks syndrome
(Townes syndrome) |
3 |
- |
| Toxic Epidermal Necrolysis
(Scalded Skin syndrome) |
0 |
- |
| Toxic Shock syndrome
|
0 |
- |
| Toxocariasis
|
0 |
|
| Toxoplasmosis
|
3 |
|
| Trachea-Oesophageal Fistula and/or Oesophageal Atr
(Oesphageal Atresia; Adynamic Oesophagus; Duodenal Atresia) |
13 |
- |
| Tracheal Stenosis
|
6 |
- |
| Tracheobronchopathia Osteochondroplastica
|
0 |
- |
| Tracheomalacia
|
8 |
- |
| Tracheostomy
|
36 |
- |
| Transcobalamin Type II Deficiency
|
0 |
- |
| Transient Neo-Natal Hyperammonaemia
|
0 |
- |
| Transient Tic Disoder
|
0 |
- |
| Translocations
|
5 |
- |
| Transplants
(Post-transplant Lymphoproliferative disorder) |
1 |
- |
| Transposition of the Great Arteries
(TGA; Complete Transposition of the Great Arteries; d-TGA; Simple Transposition; Ventriculoarterial Discordance) |
0 |
- |
| Transverse Myelitis
|
3 |
- |
| Traumatic Birth
|
0 |
- |
| Treacher-Collins syndrome
(Franceshetti-Klein; First Arch syndrome; Mandibulo Dysostosis) |
1 |
- |
| Trichoepithelial Tumour
|
0 |
- |
| Trichorhinophalangeal syndrome Type 1
|
2 |
- |
| Trichothiodystophy
(TTD; Tay syndrome; Amish Brittle Hair syndrome; BIDS syndrome; Brittle hair-intellectual impairment-decreased fertility-short Stature syndrome; IBIDS; PIBIDS; Trichothiodystrophy with Congenital Ichthyosis) |
0 |
- |
| Trichotillomania
|
1 |
- |
| Tricuspid Atresia
|
3 |
- |
| Trigeminal Neuralgia
(Tic Douloureux) |
0 |
|
| Trigonitis
|
0 |
- |
| Trigonitis Pseudomembranous Idiopathic
|
0 |
- |
| Trigonocephaly
|
7 |
- |
| Trihydoxi Acyl CoA Dehydrogenase Deficiency
|
0 |
- |
| Trimethylamineuria
|
2 |
- |
| Triose Phosphate Isomerase Deficiency
|
0 |
- |
| Triosephosphate Isomerase Deficiency
|
0 |
- |
| Triploidy
|
2 |
- |
| Trisomy 10
|
1 |
- |
| Trisomy 14 Mosaic
(Trisomy 14; Mosaic Trisomy 14; Trisomy 14 Mosaicism syndrome) |
1 |
- |
| Trisomy 17
|
0 |
- |
| Trisomy 6q
( Trisomy 6q syndrome; Partial; 6q+ syndrome; Partial; Trisomy 6q; Partial; Distal Trisomy 6q; Duplication 6q; Partial; Distal Duplication 6q) |
1 |
- |
| Trisomy 7
|
0 |
- |
| Truncus Arteriosus
|
3 |
- |
| Ttracheomalacia
|
0 |
- |
| Tube Feeding
(Gastrostomy) |
36 |
- |
| Tuberculosis
|
0 |
- |
| Tuberous Sclerosis
(Epiloia; Bourneville syndrome) |
20 |
|
| Tumoral Calcinosis
|
1 |
- |
| Tumours
|
1 |
- |
| Turcot syndrome
|
0 |
- |
| Turner syndrome
(XO syndrome; Bonnevie-Ullrich syndrome; Gonadal Dysgenesis (XO); Monosomy X) |
34 |
|
| Tyrosinaemia Type 1
|
1 |
- |
| Tyrosine Hydroxylase Deficiency
(TH Deficiency; Infantile Parkinsonism; Infantile Parkinson's disease; TH-deficient Dopa-responsive Dystonia; DRD; Progressive Infantile Encephalopathy) |
0 |
- |
| Ulcerative Colitis
(Pioderma Gangrenosum) |
2 |
- |
| Ulerythema Ophyogenes
|
2 |
- |
| Ullrich Muscular Dystrophy
(Ullrich disease; Ullrich Scleroatonic Muscular Dystrophy; Ullrich Congenital Muscular Dystrophy; UCMD) |
8 |
- |
| Undescended Testicles
(Undescended Testes; Undescended Testis; Cryptorchidism) |
0 |
- |
| Undiagnosed Bone disorders
|
0 |
- |
| Undiagnosed Endocrine disorders
|
1 |
- |
| Undiagnosed Learning Disability
|
21 |
- |
| Undiagnosed Metabolic disorders
|
2 |
- |
| Undifferentiated Connective Tissue disease
|
0 |
- |
| Uniparental Disomy
|
0 |
- |
| Univentricular Atrioventricular Connection
|
0 |
- |
| Upper Limb Abnormalities
|
8 |
|
| Urea Cycle disorder
|
3 |
- |
| Ureter Defects
|
0 |
- |
| Urethrocele
|
0 |
- |
| Urofacial syndrome
(Ochoa syndrome) |
0 |
- |
| Urological Conditions
|
0 |
- |
| Urological Conditions Neurogenic Bladder
|
3 |
- |
| Urostomy
|
0 |
- |
| Urticaria
(Urticaral Vasculitis; Cold Urticaria; Aquagenic Urticaria) |
0 |
- |
| Urticaria Pigmentosa
(Cutaneous Mastocytosis; Mastocytosis) |
15 |
- |
| Usher syndrome
|
1 |
|
| Uterus Didelphys
|
4 |
- |
| Uticaria
(Angioedema) |
0 |
- |
| Uveitis
|
3 |
|
| Van Bogaert's syndrome
|
0 |
- |
| Van Buchem syndrome
(Endosteal Hyperostosis) |
0 |
- |
| Van der Knaap syndrome
(Van der Knaap Leukodystrophy) |
0 |
- |
| Van der Woude syndrome
(Demarquay syndrome) |
1 |
- |
| Van Maldergram syndrome
(Van Maldergem Wetzburger Verloes syndrome; Cerebrofacioarticular syndrome; Cerebro Facio Articular syndrome; Cerebro-facio-articular syndrome) |
0 |
- |
| Varicella
(Chicken Pox) |
0 |
- |
| Variegate Porphyria
|
0 |
- |
| Vascular Birthmarks
|
1 |
|
| Vascular disorders
|
1 |
- |
| Vasculitis
|
1 |
- |
| VATER Association D
(VATERL Association) |
6 |
- |
| Vein of Galen Malformation
|
2 |
|
| Velo-Cardio-Facial syndrome
(VCFS; Sprintzen syndrome; Catch 22) |
4 |
|
| Veno-occlusive disease
|
0 |
- |
| Ventricular fibrillation
|
0 |
- |
| Ventricular Septal Defect
(VSD) |
0 |
- |
| Ventricular tachycardia
(Wide-complex tachycardia; V tach; Tachycardia - ventricular) |
2 |
- |
| Ventriculomegaly
|
10 |
- |
| Verbal Dyspraxia
|
42 |
- |
| Vernal Conjunctivitis
|
0 |
- |
| Vertebrobasilar Stroke
|
0 |
- |
| Vertigo
|
0 |
- |
| Very Long Chain Acyl CoA Dehydrogenase Deficiency
(VLCAD; VLCADD) |
0 |
- |
| Vesico Intestinal Fissure
|
0 |
- |
| Vesico-ureteral Reflux
|
5 |
- |
| Vestibular disorders
(Balance disorders) |
1 |
- |
| Viral Infection
(Herpes Virus) |
0 |
- |
| Visceral Myopathy
|
1 |
- |
| Visual Impairment/disorders
|
56 |
|
| Visual Spatial disorder
|
0 |
- |
| Vitamin B12 Uptake Deficiency
|
1 |
- |
| Vitamin B12 Uptake Deficiency M
|
0 |
- |
| Vitamin D Dependent Rickets Type I
|
0 |
- |
| Vitamin K Deficiency
(Hypoprothrombenaemia) |
0 |
- |
| Vitiligo
(Leukoderma) |
0 |
|
| Vocal Cord paralysis
|
0 |
- |
| Vogt-Koyanagi-Harada syndrome
|
0 |
- |
| Vogt-Spielmeyer disease
|
0 |
- |
| Von Gierke disease
|
0 |
- |
| Von Hippel-Lindau syndrome
|
2 |
|
| Von Willebrand disease
|
2 |
- |
| Vulvodynia
(Vulvar Dysesthesia) |
1 |
- |
| Waardenburg's syndrome
|
7 |
- |
| WAGR syndrome
|
6 |
- |
| Waldenstrom's Macroglobulinaemia
|
0 |
- |
| Walker-Warburg syndrome
|
0 |
- |
| Warburg Micro syndrome
(Micro syndrome) |
6 |
- |
| Warm Autoimmune Haemolytic Anaemia
(Idiopathic Warm Antibody Haemolytic Anaemia; Primary Warm Antibody Haemolytic Anaemia; Warm Antibody Autoimmune Haemolytic Anaemia; Warm Reacting Antibody disease; Warm Autoimmune Hemolytic Anemia) |
1 |
- |
| Watson syndrome
|
0 |
- |
| Weaver syndrome
|
4 |
- |
| Weber-Christian disease
(Weber Christian Panniculitis) |
0 |
- |
| Wegener Granulomatosis
|
0 |
- |
| Weidemann Rautenstrauch syndrome
|
0 |
- |
| Weidemann Rautenstrauch syndrome M
|
0 |
- |
| Weidemann syndrome
|
0 |
- |
| Weismann-Netter Stuhh
|
0 |
- |
| Wells syndrome
|
0 |
- |
| Werdnig-Hoffmann disease
|
0 |
- |
| Werner syndrome
(Progeria of Adulthood) |
0 |
- |
| Wernicke Korsakoff syndrome
(Wernicke Encephalopathy) |
1 |
- |
| West Nile Encephalitis
|
0 |
- |
| West syndrome
(Salaam Attacks; Jackknife Convulsion; Infantile Spasms) |
84 |
|
| Whipples disease
|
0 |
- |
| Wildervanck syndrome
(Cervico oculo acoustic syndrome) |
2 |
- |
| William's syndrome
(Hypercalcaemia; Infantile Hypercalcaemia) |
36 |
|
| Wilms Tumour
(Nephroblastoma) |
2 |
- |
| Wilson disease
(Hepatolenticular Degeneration) |
0 |
- |
| Wilson-Mikity syndrome
(Cystic Pulmonary Emphysema; Interstitial Prematurity Fibosis; Neonatal Cystic Pulmonary Emphysema) |
0 |
- |
| Winchester syndrome
|
0 |
- |
| Winter-Tsukahara syndrome
|
0 |
- |
| Wiskott-Aldrich syndrome
|
0 |
- |
| Wolcott-Rallison syndrome
(early-onset diabetes mellitus-epiphyseal dysplasia; infancy-onset diabetes mellitus-multiple epiphyseal dysplasia; multiple epiphyseal dysplasia-early onset diabetes mellitus; MED-IDDM; spondylo-epiphyseal dysplasia-diabetes mellitus; IDDM-MED) |
3 |
- |
| Wolf-Hirschhorn syndrome
(Chromosome 4p) |
15 |
|
| Wolf-Parkinson-White syndrome
|
6 |
- |
| Wolfram syndrome
(DIDMOAD) |
4 |
- |
| Wooly-hair syndrome
(Wooly hair syndrome; whs) |
0 |
- |
| Worster-Drought syndrome
(Congenital Suprabulbar Paresis; Supra Bulbar Paresis; Suprabulbar Palsy) |
24 |
|
| Worth disease
(Hyperostosis Corticalis Generalisata; Benign form of Worth with Torus Palatinus; Autosomal Dominant Osteosclerosis; Autosomal Dominant Endosteal Hyperostosis) |
0 |
- |
| X-linked Hypohidrotic Ectodermal Dysplasia
|
0 |
- |
| X-linked Hypophosphatemic Rickets
(Hypophosphatemic Rickets) |
0 |
- |
| X-linked Ichthyosis
|
2 |
- |
| X-linked Juvenile Retinoschisis
(Hereditary Retinoschisis) |
10 |
- |
| X-Linked Nephrolithiasis
|
0 |
- |
| X-Linked Proliferative disease
|
0 |
- |
| X-linked Reticulate Pigmentary disorder
(Familial Cutaneous Amyloidosis; Partington Amyloidosis; Partington Cutaneous Amyloidosis; Partington syndrome Type II; Reticulate Pigmentary disorder; X-linked Reticulate Pigmentary disorder with Systemic Manifestations) |
0 |
- |
| X-linked severe combined immunodefiency
(Interleukin 2 Receptor Gamma chain Deficiency) |
0 |
- |
| Xeroderma Pigmentosum
(Kaposi's syndrome II; De Santis-Cacchione syndrome) |
1 |
|
| Xq28 Duplication
(MECP2 Duplication syndrome) |
0 |
- |
| XXX syndrome
(Triple X) |
4 |
- |
| XXYY syndrome
(48,XXYY; 48XXYY) |
2 |
- |
| XYY syndrome
(Jacob's syndrome) |
16 |
|
| Young syndrome
(Barry-Perkins-Young) |
0 |
- |
| Young-Simpson syndrome
|
0 |
- |
| Yunis Varon syndrome
|
0 |
- |
| Zappert's syndrome
|
0 |
- |
| Zellweger syndrome
|
3 |
- |
| Zollinger Ellison syndrome
|
0 |
- |
|
|
|
|
