| 11q deletion syndrome |
Jacobsen syndrome |
| 13q deletion syndrome |
Monosomy 13q syndrome |
| 1p36 deletion syndrome |
Monosomy 1p36 |
| 22q11 deletion syndrome |
DiGeorge syndrome, Velo-cardio-facial syndrome, CATCH 22 |
| 5p deletion syndrome |
|
| Aarskog syndrome |
Faciogenital syndrome, Faciodigitogenital syndrome |
| AB variant of GM2 gangliosidosis |
|
| Acid maltase deficiency |
|
| Acquired epilectic aphasia |
|
| Acrocephalosyndactyly type 1 |
|
| Acrocephalosyndaktyly type III |
|
| Activator protein deficiency |
|
| Acute intermittent porphyria |
AIP |
| Addison's disease |
Primary adrenal insufficiency |
| AGU |
|
| Aicardi syndrome |
-- |
| AIP |
|
| AIS |
|
| Alagille syndrome |
Arteriohepatic dysplasia |
| Albers-Schönberg disease |
|
| Alexander disease |
-- |
| Alfa-L-iduronidase deficiency |
|
| Alpha-galactosidase A deficiency |
|
| Alport syndrome |
-- |
| ALPS |
|
| ALS |
|
| Alström syndrome |
Alström-Hallgren syndrome |
| Alström-Hallgren syndrome |
|
| Amyotrophic lateral sclerosis |
ALS, Progressive spinal muscular atrophy, Progressive bulbar palsy, Pseudobulbar palsy, Primary... |
| Anderson-Fabry disease |
|
| Androgen insensitivity syndrome |
AIS, Androgen resistance syndrome, Testicular feminisation syndrome |
| Androgen resistance syndrome |
|
| Angelman syndrome |
-- |
| Angiokeratoma corporis diffusum |
|
| Angioosteohypertrophy syndrome |
|
| Anhidrotic ectodermal dysplasia |
|
| Aniridia |
|
| Anonymous |
Brain disease of unknown cause |
| Apert syndrome |
Acrocephalosyndactyly type 1 |
| Argininosuccinate lyase deficiency |
ASL deficiency |
| Arteriohepatic dysplasia |
|
| ASL deficiency |
|
| Aspartylglucosaminuria |
AGU |
| AT |
|
| Ataxia telangiectasia |
AT, Louis–Bar syndrome |
| Autoimmune lymphoproliferative syndrome |
ALPS, Canale-Smith syndrome |
| Axenfeld anomaly |
|
| Axenfeld-Rieger syndrome |
Axenfeld anomaly, Rieger anomaly |
| Bartter syndrome |
|
| Bartter syndrome and Gitelman syndrome |
Primary renal tubular hypokalemic alkalosis, Hyperprostaglandin E syndrome, Familial... |
| Becker myotonia |
|
| Behçet disease |
-- |
| Benign essential blepharospasm |
|
| Best vitelliform macular dystrophy |
-- |
| Blackfan Diamond anaemia |
|
| Bladder exstrophy |
-- |
| Blepharospasm |
Benign essential blepharospasm |
| Bourneville disease |
|
| Brain disease of unknown cause |
|
| Bruton disease/agammaglobulinemia |
|
| Bullous ichthyosis |
|
| BVMD |
|
| CADASIL |
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy |
| Canale-Smith syndrome |
|
| Cardiocutaneous syndrome |
|
| Cardiofaciocutaneous syndrome |
CFC |
| Cat eye syndrome |
-- |
| CATCH 22 |
|
| CCHS |
|
| Central core disease |
-- |
| Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy |
|
| Cerebral gigantism |
|
| CF |
|
| CFC |
|
| Childhood disintegrative disorder |
Heller syndrome |
| Chondroectodermal dysplasia |
|
| Christ-Siemens-Touraine syndrome |
|
| Chromosome 1, 1p36 deletion syndrome |
|
| Chromosome 1, Monosomy 1p36 |
|
| Chromosome 13, 13q deletion syndrome |
|
| Chromosome 13, Monosomy 13q syndrome |
|
| Chromosome 22, 22q11 deletion syndrome |
|
| Chromosome 22, CATCH 22 |
|
| Chromosome 5, 5p deletion syndrome |
|
| Chronic inflammatory demyelinating polyneuropathy |
|
| Churg-Strauss syndrome |
-- |
| CIDP |
Chronic inflammatory demyelinating polyneuropathy |
| CJD |
|
| Cockayne syndrome |
-- |
| Comel-Netherton syndrome |
|
| Common variable immunodeficiency |
CVID, Hypogammaglobulinaemia |
| Congenital aniridia |
Aniridia |
| Congenital bilateral perisylvian syndrome |
|
| Congenital brittle bone disease |
|
| Congenital central hypoventilation syndrome |
CCHS |
| Congenital dystrophia myotonica |
|
| Congenital hypoplastic anaemia |
|
| Congenital insensitivity to pain |
|
| Congenital myasthenia |
-- |
| Congenital myotonia |
Myotonia congenita, Thomsen disease, Becker myotonia |
| Congenital spondyloepiphyseal dysplasia |
Spondyloepiphyseal dysplasia congenita |
| Costello syndrome |
Faciocutaneoskeletal syndrome, FCS syndrome |
| Creutzfeldt-Jakob disease |
CJD |
| Cri du chat syndrome |
5p deletion syndrome |
| Crouzon syndrome |
-- |
| CVID |
|
| Cystic fibrosis |
CF, Pancreatic cystic fibrosis, Muscoviscidosis |
| Cystinosis |
-- |
| Danon disease |
Lysosomal-associated membrane protein 2, LAMP2 |
| Darier disease |
Keratosis follicularis |
| DBA |
|
| De Morsier syndrome |
|
| Dermatomyositis |
-- |
| Devic disease |
|
| Diamond Blackfan anaemia |
DBA, Blackfan Diamond anaemia, Congenital hypoplastic anaemia |
| DiGeorge syndrome |
|
| Duplication 17p11.2 syndrome |
|
| Dyskeratosis congenita |
Hoyeraal-Hreidarsson syndrome |
| Dystrophia myotonica type 1 |
|
| Dystrophia myotonica type 2 |
|
| Early-onset retinitis pigmentosa |
|
| Ectodermal dysplasia |
|
| Edwards syndrome |
|
| Ellis-van Creveld syndrome and Weyers acrofacial dysostosis |
Chondroectodermal dysplasia |
| Encephalotrigeminal angiomatosis |
|
| Erythropoietic protoporphyria |
Porphyria, erythropoietic protoporphyria, Inherited ferrochelatase deficiency |
| Eulenburg disease |
|
| Fabry disease |
Anderson-Fabry disease, Alpha-galactosidase A deficiency, Angiokeratoma corporis diffusum |
| Faciocutaneoskeletal syndrome |
|
| Faciodigitogenital syndrome |
|
| Faciogenital syndrome |
|
| Familial amyloid neuropathy type IV |
|
| Familial hypocalcaemia with hypercalciuria |
|
| Familial hypokalemia-hypomagnesemia |
|
| Familial isolated hypoparathyroidism |
|
| Fanconi anaemia |
-- |
| FCS syndrome |
|
| Floating Harbor syndrome |
Pelletier-Leisti syndrome |
| Foix-Chavany-Marie syndrome |
|
| Franceschetti-Klein syndrome |
|
| Gaucher disease |
Morbus Gaucher |
| Gelsolin amyloidosis |
Familial amyloid neuropathy type IV, Meretoja syndrome, Hereditary amyloidosis, Finnish type |
| Gillespie syndrome |
-- |
| Gitelman syndrome |
|
| Glucose transporter type 1 deficiency syndrome |
GLUT1 deficiency syndrome |
| GLUT1 deficiency syndrome |
|
| Glutaric acidemia type 1 |
|
| Glutaric aciduria type 1 |
Glutaric acidaemia type 1, Glutaryl-coenzyme A dehydrogenase deficiency |
| Glutaryl-coenzyme A dehydrogenase deficiency |
|
| Glycogenosis type II |
|
| Glycogenosis type V |
|
| Glycogenosis type VII |
|
| GM2 gangliosidoses |
Hexosaminidase A deficiency, Tay-Sachs disease, Hexosaminidase B deficiency, Sandhoff disease,... |
| Goldenhar syndrome |
Oculo-auriculo-vertebral spectrum, OAVS, Hemifacial microsomia |
| Goodpasture disease |
-- |
| HAE |
|
| Heller syndrome |
|
| Hemifacial microsomia |
|
| Hepatolenticular degeneration |
|
| Hereditary amyloidosis, Finnish type |
|
| Hereditary angioedema |
HAE |
| Hereditary sensory and autonomic neuropathy type V |
HSAN V, Congenital insensitivity to pain |
| Heredopathia atactica polyneuritiformis |
|
| Hexosaminidase A deficiency |
|
| Hexosaminidase B deficiency |
|
| HIES |
|
| Homocystinuria |
-- |
| Hoyeraal-Hreidarssons syndrome |
|
| HSAN V |
|
| Hunter syndrome |
Mucopolysaccharidosis type II, MPS II, Iduronate sulfatase deficiency |
| Huntington chorea |
|
| Huntington disease |
HD, Huntington chorea, Juvenile Huntington disease |
| Hurler, Hurler-Scheie and Scheie syndromes |
Mucopolysaccharidosis type I (IH, IH/S, IS); MPS I (IH, IH/S, IS), Alfa-L-iduronidase deficiency |
| Hyper IgE syndrome |
Job disease, Hyperimmunoglobulin E syndrome, HIES |
| Hyperimmunoglobulin E syndrome |
|
| Hyperkalemic periodic paralysis and Paramyotonia congenita |
HyperPP, Eulenburg disease |
| HyperPP |
|
| Hyperprostaglandin E syndrome |
|
| Hypogammaglobulinaemia |
|
| Hypohidrotic ectodermal dysplasia |
Anhidrotic ectodermal dysplasia, Ectodermal dysplasia, Christ-Siemens-Touraine syndrome |
| Hypoparathyroidism |
Familial isolated hypoparathyroidism, X-linked recessive hypoparathyroidism, Familial hypocalcaemia... |
| Ichthyosis |
Bullous ichthyosis, Lamellar ichthyosis |
| Idic (15) syndrome |
|
| Iduronate sulfatase deficiency |
|
| Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked |
|
| Inherited ferrochelatase deficiency |
|
| IPEX syndrome |
Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked; IPEX-like syndrom |
| IPEX-like syndrome |
|
| Isaacs syndrome |
-- |
| Isochromosome 12p syndrome |
|
| Isochromosome 18p syndrome |
Tetrasomy 18p |
| Isodicentric 15 syndrome |
|
| Jacobsen syndrome |
|
| Jervell and Lange-Nielsen syndrome |
JLNS, Surdo-cardiac syndrome, Long QT syndrome, LQTS |
| JLNS |
|
| Job disease |
|
| Juvenile Huntington disease |
|
| Kabuki makeup syndrome |
|
| Kabuki syndrome |
Kabuki makeup syndrome, Niikawa-Kuroki syndrome |
| Kennedy disease |
Spinal bulbar muscular atrophy, X-linked; SBMA |
| Keratosis follicularis |
|
| Klippel-Trenaunay syndrome |
Klippel-Trenaunay-Weber syndrome, Angioosteohypertrophy syndrome |
| Klippel-Trenaunay-Weber syndrome |
|
| Kostmann disease |
|
| Lamellar ichthyosis |
|
| LAMP2 |
|
| Landau-Kleffner syndrome |
Acquired epilectic aphasia |
| Langer-Giedion syndrome |
|
| Late-onset spondyloepiphyseal dysplasia |
Spondyloepiphyseal dysplasia tarda |
| LCA |
|
| LCHAD deficiency |
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency |
| Leber congenital amaurosis |
LCA, Early-onset retinitis pigmentosa |
| LEOPARD syndrome |
Noonan syndrome with muliple lentigines, Cardiocutaneous syndrome |
| LGMD |
|
| Limb-girdle muscular dystrophy |
LGMD |
| Long QT syndrome |
|
| Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency |
|
| Louis-Bar syndrome |
|
| LPI |
|
| LQTS |
|
| Lysinuric protein intolerance |
LPI |
| Lysosomal-associated membrane protein 2 |
|
| Machado-Joseph disease/SCA3 |
|
| Malignant hyperthermia |
-- |
| Mandibulofacial dysostosis |
|
| Maple syrup urine disease |
MSUD |
| Marble bone disease |
|
| Marker chromosome 15 syndrome |
Idic (15) syndrome, Isodicentric 15 syndrome |
| McArdle disease |
Glycogenosis type V, Myophosphorylase deficiency |
| McCune-Albright syndrome |
-- |
| MCPH |
|
| MED |
|
| Meretoja syndrome |
|
| Microcephaly vera |
|
| Moebius syndrome |
|
| Mohr syndrome (OFD II) |
|
| Monosomy 13q syndrome |
|
| Monosomy 1p36 |
|
| Morbus Gaucher |
|
| Motor neurone disease |
|
| MPS I (IH, IH/S, IS) |
|
| MPS II |
|
| MPS III |
|
| MSUD |
|
| Mucopolysaccharidosis type I (IH, IH/S, IS) |
|
| Mucopolysaccharidosis type II |
|
| Mucopolysaccharidosis type III |
|
| Multiple epiphyseal dysplasia |
MED |
| Muscoviscidosis |
|
| Myophosphorylase deficiency |
|
| Myotonia congenita |
|
| Myotonic dystrophy |
Steinert disease, Dystrophia myotonica type 1, Congenital dystrophia myotonica, Dystrophia... |
| Möbius sequence |
|
| Möbius syndrome |
Moebius syndrome, Möbius sequence |
| Nemaline myopathy |
-- |
| Netherton syndrome |
Comel-Netherton syndrome |
| Neuromyelitis optica |
NMO, Devic disease |
| Neuromyotonia |
|
| Niikawa-Kuroki syndrome |
|
| NMO |
|
| Noonan syndrome |
-- |
| Noonan syndrome with muliple lentigines |
|
| OAVS |
|
| Oculo-auriculo-vertebral spectrum |
|
| OFD I and II |
|
| OI |
|
| ONH syndrome |
|
| Opercular syndrome |
|
| Optic nerve hypoplasia |
ONH syndrome, Septo-optic dysplasia, De Morsier syndrome |
| Orofaciodigital syndromes I and II |
Orol-facial-digital syndromes I and II, OFD I and II, Papillon-Léage-Psaume syndrome (OFD I), Mohr... |
| Orol-facial-digital syndromes I and II |
|
| Osteogenesis imperfecta |
OI, Congenital brittle bone disease |
| Osteopetrosis |
Albers-Schönberg disease, Marble bone disease |
| Pachyonychia congenita |
PC |
| Pallister-Killian syndrome |
Isochromosome 12p syndrome, Tetrasomy 12p syndrome |
| PAN |
|
| Pancreatic cystic fibrosis |
|
| Papillon-Léage-Psaume syndrome (OFD I) |
|
| Paramyotonia congenita |
|
| Paroxysmal nocturnal haemoglobinuria |
PNH |
| PC |
|
| Pelizaeus-Merzbacher disease |
PMD |
| Pelletier-Leisti syndrome |
|
| Perisylvian syndrome |
Congenital bilateral perisylvian syndrome, Opercular syndrome, Foix-Chavany-Marie syndrome,... |
| Pfeiffer syndrome |
-- |
| Phenylketonuria |
PKU |
| Phosphofructokinase deficiency |
|
| PKU |
|
| PMD |
|
| PNH |
|
| Polyarteritis nodosa |
PAN |
| Polymyositis |
-- |
| Pompe disease |
Glycogenosis type II, Acid maltase deficiency |
| Porphyria, acute intermittent porphyria |
|
| Porphyria, erythropoietic protoporphyria |
|
| Potocki-Lupski syndrome |
Duplication 17p11.2 syndrome |
| Prader-Willi syndrome |
PWS |
| Primary adrenal insufficiency |
|
| Primary lateral sclerosis |
|
| Primary microcephaly |
Primary microcephaly (autosomal recessive), Microcephaly vera, MCPH |
| Primary microcephaly (autosomal recessive) |
|
| Primary renal tubular hypokalemic alkalosis |
|
| Progressive bulbar palsy |
|
| Progressive spinal muscular atrophy |
|
| PROMM |
|
| Proximal myotonic myopathy, |
|
| Pseudoachondroplasia |
-- |
| Pseudobulbar palsy |
|
| Pseudoxanthoma elasticum |
PXE |
| PWS |
|
| PXE |
|
| Refsum disease |
Heredopathia atactica polyneuritiformis |
| Retinoblastoma |
-- |
| Rett syndrome |
-- |
| Rieger anomaly |
|
| Rubinstein-Taybi syndrome |
-- |
| Russell-Silver syndrome |
|
| Saethre-Chotzen syndrome |
Acrocephalosyndaktyly type III |
| Sandhoff disease |
|
| Sanfilippo syndrome |
Mucopolysaccharidosis type III, MPS III |
| SBMA |
|
| SCA |
|
| SCA1 |
|
| SCA2 |
|
| SCA3/Machado-Joseph disease |
|
| SCA6 |
|
| SCA7 |
|
| SCA8 |
|
| SCID |
|
| SCN |
|
| SDS |
|
| Septo-optic dysplasia |
|
| Severe combined immunodeficiency |
SCID |
| Severe congenital neutropenia |
SCN, Kostmann disease |
| Sex-linked agammaglobulinemia |
|
| Sex-linked gammaglobulin deficiency |
|
| Shwachman Diamond syndrome |
|
| Shwachman syndrome |
Shwachman-Diamond syndrome, SDS |
| Sickle cell anaemia |
-- |
| Silver-Russell syndrome |
Russell-Silver syndrome |
| SLO syndrome |
|
| SLOS |
|
| Smith-Lemli-Opitz syndrome |
SLOS, SLO syndrome |
| Sotos syndrome |
Cerebral gigantism |
| Spinal bulbar muscular atrophy, X-linked |
|
| Spinocerebellar ataxia, dominantly inherited forms |
SCA, SCA1, SCA2, SCA3/Machado-Joseph disease, Machado-Joseph disease/SCA3, SCA6, SCA7, SCA8 |
| Spondyloepiphyseal dysplasia congenita |
|
| Spondyloepiphyseal dysplasia tarda |
|
| SSADH deficiency |
|
| Steinert disease |
|
| Sturge-Weber syndrome |
SWS, Sturge-Weber-Dimitri syndrome, Encephalotrigeminal angiomatosis |
| Sturge-Weber-Dimitri syndrome |
|
| Succinic semialdehyde dehydrogenase deficiency |
SSADH deficiency |
| Surdo-cardiac syndrome |
|
| SWS |
|
| Takayasu arteritis |
-- |
| TAR syndrome |
-- |
| Tarui disease |
Glycogenosis type VII, Phosphofructokinase deficiency |
| Tay-Sachs disease |
|
| Testicular feminisation syndrome |
|
| Tetrasomy 12p syndrome |
|
| Tetrasomy 18p |
|
| Thalassemia |
-- |
| Thomsen disease |
|
| Treacher Collins syndrome |
Mandibulofacial dysostosis, Franceschetti-Klein syndrome |
| Trichorhinophalangeal syndrome |
TRPS, Langer-Giedion syndrome |
| Trisomy 18 syndrome |
Edwards syndrome |
| TRPS |
|
| TSC |
|
| Tuberous sclerosis |
Tuberous sclerosis complex, TSC, Bourneville disease |
| Tuberous sclerosis complex |
|
| Tyrosinemia type 1 |
-- |
| Usher syndrome |
-- |
| VACTERL association |
VATER association |
| WAGR |
|
| WAGR syndrome |
Wilms tumour, aniridia, genital abnormalities and retardation; WAGR |
| Warts, hypogammaglobulinemia, infections, and myelokathexis |
|
| VATER association |
|
| Velo-cardio-facial syndrome |
|
| Weyers acrofacial dysostosis |
|
| WHIM syndrome |
Warts, hypogammaglobulinemia, infections, and myelokathexis, Zuelzer-Krills syndrome |
| Williams syndrome |
Williams-Beuren syndrome |
| Williams-Beuren syndrome |
|
| Wilms tumour, aniridia, genital abnormalities and retardation |
|
| Wilson disease |
Hepatolenticular degeneration |
| Wiskott-Aldrich syndrome |
-- |
| Worster-Drought syndrome |
|
| X-linked agammaglobulinemia |
Bruton disease/agammaglobulinemia, Sex-linked gammaglobulin deficiency, Sex-linked... |
| X-linked recessive hypoparathyroidism |
|
| Zuelzer-Krills syndrome |
|