| 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 |
|
| Acrocephalosyndactyly type 1 |
|
| Acute intermittent porphyria |
AIP |
| AIS |
|
| AIS |
|
| Alagille syndrome |
Arteriohepatic dysplasia, Monosomy 20p12 syndrome |
| Albers-Schönberg disease |
|
| Alström syndrome |
Alström-Hallgren syndrome |
| Alström-Hallgren syndrome |
|
| Androgen insensitivity syndrome |
AIS, Androgen resistance syndrome, Testicular feminisation syndrome |
| Androgen resistance syndrome |
|
| Angelman syndrome |
-- |
| Angioosteohypertrophy syndrome |
|
| Anhidrotic ectodermal dysplasia |
|
| Anonymous |
Brain disease of unknown cause |
| Apert syndrome |
Acrocephalosyndactyly type 1 |
| Arteriohepatic dysplasia |
|
| AT |
|
| Ataxia telangiectasia |
AT, Louis–Bar syndrome |
| Becker myotonia |
|
| Benign essential blepharospasm |
|
| Best vitelliform macular dystrophy |
|
| Bladder exstrophy |
-- |
| Blepharospasm |
Benign essential blepharospasm |
| Brain disease of unknown cause |
|
| Bruton disease/agammaglobulinemia |
|
| Bullous ichthyosis |
|
| CADASIL |
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy |
| CATCH 22 |
|
| CCHS |
|
| Central core disease |
|
| Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy |
|
| Chromosome 1, 1p36 deletion syndrome |
|
| Chromosome 1, Monosomy 1p36 |
|
| Chromosome 13, 13q deletion syndrome |
|
| Chromosome 13, Monosomy 13q syndrome |
|
| Chromosome 20, Monosomy 20p12 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 |
| Cockayne syndrome |
-- |
| Comel-Netherton syndrome |
|
| Common variable immunodeficiency |
CVID, Variable immunodeficiency, Hypogammaglobulinemia |
| Congenital central hypoventilation syndrome |
CCHS |
| Congenital spondyloepiphyseal dysplasia |
Spondyloepiphyseal dysplasia congenita |
| Cri du chat syndrome |
5p deletion syndrome |
| CVID |
|
| Darier disease |
Keratosis follicularis |
| Dermatomyositis |
|
| DiGeorge syndrome |
|
| Dyskeratosis congenita |
Hoyeraal-Hreidarsson syndrome |
| Ectodermal dysplasia |
|
| Ellis-van Creveld syndrome and Weyers acrofacial dysostosis |
Chondroectodermal dysplasia |
| Erythropoietic protoporphyria |
Porphyria, erythropoietic protoporphyria |
| Eulenburg disease |
|
| Fanconi anaemia |
|
| Floating Harbor syndrome |
Pelletier-Leisti syndrome |
| Gillespie syndrome |
|
| Glycogen storage disease type VII |
|
| Glycogenosis type V |
|
| Glycogenosis type VII |
|
| Gorlin-Psaume syndrome (OFD I) |
|
| HAE |
|
| Hepatolenticular degeneration |
|
| Hereditary angio-oedema |
|
| Hoyeraal-Hreidarssons syndrome |
|
| Huntington chorea |
|
| Huntington disease |
Huntington chorea, Juvenile Huntington disease |
| Hyperkalemic periodic paralysis and Paramyotonia congenita |
HyperPP, Eulenburg disease |
| HyperPP |
|
| Hypogammaglobulinemia |
|
| Hypohidrotic ectodermal dysplasia |
Anhidrotic ectodermal dysplasia, Ectodermal dysplasia |
| Ichthyosis |
Bullous ichthyosis, Lamellar ichthyosis |
| Isaacs syndrome |
|
| Juvenile Huntington disease |
|
| Kennedy disease |
Spinal bulbar muscular atrophy, SBMA |
| Keratosis follicularis |
|
| Klippel-Trenaunay syndrome |
Klippel-Trenaunay-Weber syndrome, Angioosteohypertrophy syndrome |
| Klippel-Trenaunay-Weber syndrome |
|
| Lamellar ichthyosis |
|
| Langer-Giedion syndrome |
|
| Late-onset spondyloepiphyseal dysplasia |
Spondyloepiphyseal dysplasia tarda |
| Louis-Bar syndrome |
|
| Malignant hyperthermia |
|
| Maple syrup urine disease |
MSUD |
| Marble bone disease |
|
| McArdle disease |
Glycogenosis type V, Myophosphorylase deficiency |
| McCune-Albright syndrome |
|
| Microcephaly vera |
|
| Moebius syndrome |
|
| Mohr syndrome (OFD II) |
|
| Monosomy 13q syndrome |
|
| Monosomy 1p36 |
|
| Monosomy 20p12 syndrome |
|
| MSUD |
|
| Myophosphorylase deficiency |
|
| Myotonia congenita |
Thomsen disease, Becker myotonia |
| Möbius sequence |
|
| Möbius syndrome |
Moebius syndrome, Möbius sequence |
| Nemaline myopathy |
|
| Netherton syndrome |
Comel-Netherton syndrome |
| Noonan syndrome |
|
| OFD |
|
| Oral-facial-digital syndrome I and II |
OFD, Gorlin-Psaume syndrome (OFD I), Mohr syndrome (OFD II) |
| Osteopetrosis |
Albers-Schönberg disease, Marble bone disease |
| Paramyotonia congenita |
|
| Pelletier-Leisti syndrome |
|
| Phenylketonuria |
PKU |
| Phosphofructokinase deficiency |
|
| PKU |
|
| Polymyositis |
|
| Porphyria, acute intermittent porphyria |
|
| Porphyria, erythropoietic protoporphyria |
|
| Prader-Willi syndrome |
|
| Primary microcephaly |
Microcephaly vera |
| Pseudoachondroplasia |
-- |
| Rett syndrome |
|
| Rubinstein-Taybi syndrome |
|
| SBMA |
|
| SCID |
|
| SDS |
|
| Severe combined immunodeficiency |
SCID |
| Sex-linked agammaglobulinemia |
|
| Shwachman Diamond syndrome |
|
| Shwachman syndrome |
Shwachman-Diamond syndrome, SDS |
| Sickle cell anaemia |
|
| SLO syndrome |
|
| SLOS |
|
| Smith-Lemli-Opitz syndrome |
SLO syndrome, SLOS |
| Spinal bulbar muscular atrophy |
|
| Spondyloepiphyseal dysplasia congenita |
|
| Spondyloepiphyseal dysplasia tarda |
|
| TAR syndrome |
|
| Tarui disease |
Glycogenosis type VII, Phosphofructokinase deficiency, Glycogen storage disease type VII |
| Testicular feminisation syndrome |
|
| Thalassemia |
|
| Thomsen disease |
|
| Trichorhinophalangeal syndrome |
TRPS, Langer-Giedion syndrome |
| TRPS |
|
| TSC |
|
| Tuberous sclerosis |
Tuberous sclerosis complex, TSC |
| Tuberous sclerosis complex |
|
| Tyrosinemia type 1 |
|
| Usher syndrome |
|
| WAGR |
|
| WAGR syndrome |
WAGR |
| Variable immunodeficiency |
|
| Velo-cardio-facial syndrome |
|
| Wilson disease |
Hepatolenticular degeneration |
| Wiskott-Aldrich syndrome |
|
| X-linked agammaglobulinemia |
Sex-linked agammaglobulinemia, Bruton disease/agammaglobulinemia |
