Genomics England - Rare Disease Reference Data

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