| Model Catalogue ID | Disease Name | Details |
|---|---|---|
| 55449 | Amelogenesis imperfecta | details » |
| 15114 | Amyotrophic lateral sclerosis or motor neuron disease | details » |
| 11115 | Anophthalmia or microphthamia | details » |
| 11025 | Arrhythmogenic Right Ventricular Cardiomyopathy | details » |
| 15138 | Arthrogryposis | details » |
| 11064 | Atypical Beckwith-Wiedemann syndrome | details » |
| 33489 | Atypical haemolytic uraemic syndrome | details » |
| 30607 | Auditory Neuropathy Spectrum Disorder | details » |
| 36848 | Autosomal dominant deafness | details » |
| 33700 | Autosomal recessive congenital ichthyosis | details » |
| 11045 | Balanced translocations with an unusual phenotype | details » |
| 11046 | Bardet-Biedl Syndrome | details » |
| 11077 | Bilateral microtia | details » |
| 15140 | Brain channelopathy | details » |
| 11022 | Brugada syndrome | details » |
| 11041 | Cardio-facio-cutaneous syndrome | details » |
| 11112 | Cataracts | details » |
| 11024 | Catecholaminergic Polymorphic Ventricular Tachycardia | details » |
| 36512 | Cerebellar hypoplasia | details » |
| 11083 | Cerebral folate deficiency | details » |
| 15111 | Charcot-Marie-Tooth disease | details » |
| 11078 | Choanal atresia | details » |
| 15143 | Chondrodysplasia punctata | details » |
| 11063 | Classical Beckwith-Wiedemann syndrome | details » |
| 41860 | Classical Ehlers-Danlos Syndrome | details » |
| 11101 | Classical tuberous sclerosis | details » |
| 36596 | Coarse facial features including Coffin-Siris-like disorders | details » |
| 36497 | Cockayne syndrome | details » |
| 15112 | Complex Parkinsonism (includes pallido-pyramidal syndromes) | details » |
| 29270 | Cone Dysfunction Syndrome | details » |
| 11053 | Congenital adrenal hypoplasia | details » |
| 11075 | Congenital anaemias | details » |
| 29277 | Congenital Anomaly of the Kidneys and Urinary Tract (CAKUT) | details » |
| 37628 | Congenital disorders of glycosylation | details » |
| 11076 | Congenital hearing impairment | details » |
| 41908 | Congenital hypothyroidism | details » |
| 15135 | Congenital muscular dystrophy | details » |
| 15136 | Congenital myaesthenia | details » |
| 11103 | Congenital myopathy | details » |
| 11110 | Corneal abnormalities | details » |
| 11043 | Costello syndrome | details » |
| 11006 | Craniosynostosis syndromes | details » |
| 11120 | Cystic kidney disease | details » |
| 71752 | Cytopenia and pancytopenia | details » |
| 29273 | Developmental macular and foveal dystrophy | details » |
| 30559 | Diabetes with additional phenotypes suggestive of a monogenic aetiology | details » |
| 31340 | Dilated Cardiomyopathy | details » |
| 11027 | Dilated Cardiomyopathy and conduction defects | details » |
| 36852 | Disorders of sex development | details » |
| 41932 | Disseminated non-tuberculous mycobacterial infection | details » |
| 11104 | Distal myopathies | details » |
| 55469 | Ductal plate malformation | details » |
| 37657 | Ear malformations with hearing impairment | details » |
| 11100 | Early onset and familial Parkinson's Disease | details » |
| 15113 | Early onset dementia | details » |
| 11088 | Early onset dystonia | details » |
| 36851 | Early onset familial premature ovarian insufficiency | details » |
| 41876 | Early onset or familial intestinal pseudo obstruction | details » |
| 33699 | Ectodermal dysplasia without a known gene mutation | details » |
| 33684 | Epidermolysis bullosa | details » |
| 41924 | Epilepsy plus other features | details » |
| 11094 | Epileptic encephalopathy | details » |
| 11037 | Erythropoietic protoporphyria, mild variant | details » |
| 41892 | Exceptionally young adult onset cancer | details » |
| 15142 | Extreme early-onset hypertension | details » |
| 33677 | Familial and multiple pulmonary arteriovenous malformations | details » |
| 11131 | Familial breast and or ovarian cancer | details » |
| 36469 | Familial cerebral small vessel disease | details » |
| 36588 | Familial cicatricial alopecia | details » |
| 11135 | Familial colon cancer | details » |
| 42212 | Familial congenital heart disease | details » |
| 37644 | Familial disseminated superficial actinic porokeratosis | details » |
| 41900 | Familial exudative vitreoretinopathy | details » |
| 11093 | Familial Focal Epilepsies | details » |
| 11092 | Familial Genetic Generalised Epilepsies | details » |
| 30733 | Familial haematuria | details » |
| 37649 | Familial hemifacial microsomia | details » |
| 41844 | Familial hidradenitis suppurativa | details » |
| 55463 | Familial Hirschsprung Disease | details » |
| 33666 | Familial Hypercholesterolaemia | details » |
| 82147 | Familial IgA nephropathy and IgA vasculitis | details » |
| 71748 | Familial Meniere Disease | details » |
| 37565 | Familial non-syndromic cleft lip and or familial cleft palate | details » |
| 11054 | Familial or syndromic hypoparathyroidism | details » |
| 41819 | Familial primary spontaneous pneumothorax | details » |
| 33671 | Familial pulmonary fibrosis | details » |
| 11138 | Familial rhabdomyosarcoma or sarcoma | details » |
| 11021 | Familial Thoracic Aortic Aneurysm Disease | details » |
| 30619 | Familial tumour syndromes of the central and peripheral nervous system | details » |
| 15103 | Familial young-onset non-insulin-dependent diabetes | details » |
| 37586 | Fetal hydrops | details » |
| 36850 | Fetal structural CNS abnormalities | details » |
| 55665 | GAinS study | details » |
| 37772 | Gastrointestinal epithelial barrier disorders | details » |
| 33646 | Generalised pustular psoriasis | details » |
| 11091 | Genetic Epilepsies with Febrile Seizures Plus | details » |
| 30623 | Genodermatoses with malignancies | details » |
| 11111 | Glaucoma (developmental) | details » |
| 82165 | GMS R100 Rare syndromic craniosynostosis or isolated multisuture synostosis | details » |
| 82166 | GMS R104 Skeletal dysplasia | details » |
| 82172 | GMS R109 Childhood onset leukodystrophy | details » |
| 82160 | GMS R14 Acutely unwell infants with a likely monogenic disorder | details » |
| 82167 | GMS R143 Neonatal diabetes | details » |
| 82180 | GMS R193 Cystic renal disease | details » |
| 82161 | GMS R27 Congenital malformation and dysmorphism syndromes - likely monogenic | details » |
| 82163 | GMS R29 Moderate, severe or profound intellectual disability | details » |
| 82178 | GMS R381 Other rare neuromuscular disorders | details » |
| 82174 | GMS R54 Hereditary ataxia with onset in adulthood | details » |
| 82175 | GMS R55 Hereditary ataxia with onset in childhood | details » |
| 82173 | GMS R59 Early onset or syndromic epilepsy | details » |
| 82171 | GMS R61 Childhood onset hereditary spastic paraplegia | details » |
| 82162 | GMS R69 Floppy infant with a likely central cause | details » |
| 82185 | GMS R83 Arthrogryposis | details » |
| 82169 | GMS R84 Cerebellar anomalies | details » |
| 82176 | GMS R85 Holoprosencephaly - NOT chromosomal | details » |
| 82177 | GMS R86 Hydrocephalus | details » |
| 82170 | GMS R87 Cerebral malformation | details » |
| 82179 | GMS R88 Severe microcephaly | details » |
| 82164 | GMS R89 Ultra-rare and atypical monogenic disorders | details » |
| 82168 | GMS R98 Likely inborn error of metabolism - targeted testing not possible | details » |
| 11087 | Hereditary ataxia | details » |
| 55505 | Hereditary erythrocytosis | details » |
| 33674 | Hereditary haemorrhagic telangiectasia | details » |
| 11089 | Hereditary spastic paraplegia | details » |
| 36519 | Holoprosencephaly | details » |
| 15083 | Hydroa vacciniforme | details » |
| 11079 | Hyperammonaemia | details » |
| 15105 | Hyperinsulinism | details » |
| 11028 | Hypertrophic Cardiomyopathy | details » |
| 41827 | Idiopathic hypogonadotropic hypogonadism | details » |
| 42161 | Idiopathic ventricular fibrillation | details » |
| 37490 | Infantile enterocolitis and monogenic inflammatory bowel disease | details » |
| 33662 | Infantile nystagmus | details » |
| 55475 | Inherited bleeding and or platelet disorders | details » |
| 29271 | Inherited macular dystrophy | details » |
| 41884 | Inherited non-medullary thyroid cancer | details » |
| 11114 | Inherited optic neuropathies | details » |
| 36627 | Inherited white matter disorders | details » |
| 30561 | Insulin resistance (including lipodystrophy) | details » |
| 11102 | Intellectual disability | details » |
| 36619 | Intracerebral calcification disorders | details » |
| 11057 | IUGR and IGF abnormalities | details » |
| 36478 | Joubert syndrome | details » |
| 29219 | Juvenile dermatomyositis | details » |
| 10960 | Kabuki syndrome | details » |
| 11080 | Ketotic hypoglycaemia | details » |
| 11108 | Kleine-Levin syndrome and other inherited sleep disorders | details » |
| 36853 | Kyphoscoliotic Ehlers-Danlos syndrome | details » |
| 11081 | Lactic acidosis | details » |
| 29272 | Leber Congenital Amaurosis or Early-Onset Severe Retinal Dystrophy | details » |
| 15044 | Left Ventricular Noncompaction Cardiomyopathy | details » |
| 11044 | Legius syndrome | details » |
| 11042 | LEOPARD syndrome | details » |
| 11106 | Limb girdle muscular dystrophy | details » |
| 55456 | Lipoedema disease | details » |
| 11023 | Long QT syndrome | details » |
| 37612 | Lymphoedema distichiasis | details » |
| 36526 | Malformations of cortical development | details » |
| 34328 | Meige disease | details » |
| 37604 | Milroy disease | details » |
| 11085 | Mitochondrial disorders | details » |
| 55523 | Monogenic venous thrombosis | details » |
| 36611 | Moyamoya disease | details » |
| 11084 | Mucopolysaccharideosis, Gaucher, Fabry | details » |
| 30563 | Multi-organ autoimmune diabetes | details » |
| 30615 | Multiple bowel polyps | details » |
| 11132 | Multiple endocrine tumours | details » |
| 11125 | Multiple Epiphyseal Dysplasia | details » |
| 30685 | Multiple Tumours | details » |
| 71744 | Neonatal cholestasis | details » |
| 30553 | Neonatal diabetes (diagnosed less than 6 months) | details » |
| 38558 | Neonatal or paediatric intensive care admission with a likely monogenic disease | details » |
| 11133 | Neuro-endocrine Tumours- PCC and PGL | details » |
| 38874 | Neurofibromatosis Type 1 | details » |
| 37779 | Neurotransmitter disorders | details » |
| 11048 | Non-CF bronchiectasis | details » |
| 11050 | Non-Fanconi anaemia | details » |
| 41868 | Non-syndromic familial congenital anorectal malformations | details » |
| 36849 | Non-syndromic hypotrichosis | details » |
| 11039 | Noonan syndrome | details » |
| 11040 | Noonan syndrome plus other features | details » |
| 15141 | Ocular coloboma | details » |
| 30627 | Osteogenesis imperfecta | details » |
| 15109 | Other peroxisomal disorders | details » |
| 30686 | Paediatric congenital malformation-dysmorphism-tumour syndromes | details » |
| 11099 | Paediatric motor neuronopathies | details » |
| 82148 | Pain channelopathies | details » |
| 33701 | Palmoplantar keratoderma and erythrokeratodermas | details » |
| 30611 | Parathyroid cancer | details » |
| 36540 | Peeling skin syndrome | details » |
| 11127 | Periodic fever syndromes and amyloidosis | details » |
| 11086 | Peroxisomal biogenesis disorders | details » |
| 36533 | Peutz-Jeghers syndrome | details » |
| 37578 | PHACE(S) syndrome | details » |
| 55493 | Pontine tegmental cap dysplasia | details » |
| 11047 | Primary ciliary dyskinesia | details » |
| 55674 | Primary immunodeficiency | details » |
| 55517 | Primary lymphoedema | details » |
| 55481 | Primary membranoproliferative glomerulonephritis | details » |
| 36505 | Primary Microcephaly - Microcephalic Dwarfism Spectrum | details » |
| 30732 | Proteinuric renal disease | details » |
| 55499 | Pulmonary arterial hypertension | details » |
| 37636 | Radial dysplasia | details » |
| 36488 | Rare multisystem ciliopathy disorders | details » |
| 11124 | Renal tract calcification (or Nephrolithiasis or nephrocalcinosis) | details » |
| 11123 | Renal tubular acidosis | details » |
| 41916 | Resistance to thyroid hormone | details » |
| 15137 | Rhabdomyolysis and metabolic muscle disorders | details » |
| 36603 | Rhomboencephalosynapsis | details » |
| 29269 | Rod Dysfunction Syndrome | details » |
| 29268 | Rod-cone dystrophy | details » |
| 71740 | Schizophrenia plus additional features | details » |
| 29278 | Severe familial anorexia | details » |
| 42185 | Severe hypertriglyceridaemia | details » |
| 15085 | Severe multi-system atopic disease with high IgE | details » |
| 55487 | Short QT syndrome | details » |
| 11060 | Significant early-onset obesity with or without other endocrine features and short stature | details » |
| 37553 | Silver Russell syndrome | details » |
| 11065 | Simpson-Golabi-Behmel syndrome | details » |
| 38672 | Single autosomal recessive mutation in rare disease | details » |
| 15139 | Skeletal Muscle Channelopathies | details » |
| 11066 | Sotos syndrome | details » |
| 11129 | Stickler syndrome | details » |
| 37786 | Structural basal ganglia disorders | details » |
| 37573 | Syndromic cleft lip and or cleft palate | details » |
| 42213 | Syndromic congenital heart disease | details » |
| 11126 | Thoracic dystrophies | details » |
| 30785 | Ultra-rare undescribed monogenic disorders | details » |
| 37620 | Undiagnosed metabolic disorders | details » |
| 42193 | Undiagnosed monogenic disorder seen in a specialist genetics clinic | details » |
| 33686 | Undiagnosed neurocutaneous disorders | details » |
| 36855 | Unexplained kidney failure in young people | details » |
| 38665 | Unexplained monogenic fetal disorders | details » |
| 36854 | Unexplained skeletal dysplasia | details » |
| 38566 | Unexplained sudden death in the young | details » |
| 10964 | VACTERL-like phenotypes | details » |
| 42174 | Vein of Galen malformation | details » |
| 11051 | Vici Syndrome and other autophagy disorders | details » |
| 11067 | Weaver syndrome | details » |
| 15089 | Xeroderma Pigmentosum-like disorders | details » |
Generated on Tue Mar 27 14:33:12 UTC 2018