orphafolder

| 22 | Succinic semialdehyde dehydrogenase deficiency
| 29 | Mevalonic aciduria
| 245 | Nager syndrome
| 30 | Hereditary orotic aciduria
| 36 | Acrocallosal syndrome
| 915 | Aarskog-Scott syndrome
| 2614 | Nail-patella syndrome
| 33 | Isovaleric acidemia
| 168194 | Rare cardiac tumor
| 819 | Smith-Magenis syndrome
| 3085 | Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome
| 9 | Tetrasomy X
| 168615 | Hereditary persistence of alpha-fetoprotein
| 168612 | Congenital deficiency in alpha-fetoprotein
| 1442 | Ring chromosome 18 syndrome
| 168621 | Dysplasia of head of femur, Meyer type
| 1452 | Cleidocranial dysplasia
| 1455 | Autosomal dominant coarctation of aorta
| 168629 | Autosomal thrombocytopenia with normal platelets
| 193 | Cohen syndrome
| 168624 | Familial scaphocephaly syndrome, McGillivray type
| 168778 | Rare pervasive developmental disorder
| 1488 | Cooper-Jabs syndrome
| 168632 | Generalized basaloid follicular hamartoma syndrome
| 1334 | Chronic mucocutaneous candidiasis
| 168583 | Hereditary North American Indian childhood cirrhosis
| 1369 | Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome
| 168577 | Hereditary cryohydrocytosis with reduced stomatin
| 168593 | Sudden infant death-dysgenesis of the testes syndrome
| 1406 | Charlie M syndrome
| 168588 | Hyperandrogenism due to cortisone reductase deficiency
| 168601 | Congenital enteropathy due to enteropeptidase deficiency
| 168598 | Brain demyelination due to methionine adenosyltransferase deficiency
| 1414 | Cholestasis-lymphedema syndrome
| 168609 | Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure
| 168606 | Seborrhea-like dermatitis with psoriasiform elements
| 168549 | Axial spondylometaphyseal dysplasia
| 168552 | Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome
| 1154 | Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome
| 168555 | Spondylometaphyseal dysplasia, A4 type
| 168558 | 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency
| 124 | Blackfan-Diamond anemia
| 168563 | 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome
| 168566 | Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
| 1310 | Caffey disease
| 168569 | H syndrome
| 168572 | Native American myopathy
| 125 | Bloom syndrome
| 90 | Argininemia
| 168443 | Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome
| 1065 | Aniridia-cerebellar ataxia-intellectual disability syndrome
| 168448 | Spondyloepimetaphyseal dysplasia, Bieganski type
| 168451 | Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome
| 1135 | Arrhinia-choanal atresia-microphthalmia syndrome
| 168454 | Spondyloepimetaphyseal dysplasia, Geneviève type
| 1146 | Digitotalar dysmorphism
| 1143 | Neurogenic arthrogryposis multiplex congenita
| 168486 | Congenital neuronal ceroid lipofuscinosis
| 168491 | Late infantile neuronal ceroid lipofuscinosis
| 1147 | Sheldon-Hall syndrome
| 168544 | Spondylometaphyseal dysplasia, Golden type
| 246 | Postaxial acrofacial dysostosis
| 1819 | Epimetaphyseal skeletal dysplasia
| 1770 | XY type gonadal dysgenesis-associated anomalies syndrome
| 1775 | Dyskeratosis congenita
| 1764 | Familial dysautonomia
| 235 | Dubowitz syndrome
| 239 | Dyggve-Melchior-Clausen disease
| 167762 | Rare disease with dentinogenesis imperfecta
| 1672 | Diencephalic syndrome
| 167759 | Hereditary dentin defect
| 833 | Encephalopathy due to sulfite oxidase deficiency
| 167714 | Unclassified acute myeloid leukemia
| 167635 | Scleromyxedema
| 765 | Pyruvate dehydrogenase deficiency
| 395 | Homocystinuria due to methylene tetrahydrofolate reductase deficiency
| 408 | Isolated glycerol kinase deficiency
| 148 | Multiple carboxylase deficiency
| 147 | Carbamoyl-phosphate synthetase 1 deficiency
| 23 | Argininosuccinic aciduria
| 45 | Adenosine monophosphate deaminase deficiency
| 166775 | Rare hemorrhagic disorder due to an acquired coagulation factor defect
| 226 | Dihydropteridine reductase deficiency
| 217 | Isolated Dandy-Walker malformation
| 1564 | Dandy-Walker malformation-facial hemangioma syndrome
| 1556 | Cutis marmorata telangiectatica congenita
| 1538 | Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome
| 1496 | Corpus callosum agenesis-neuronopathy syndrome
| 417 | Neonatal severe primary hyperparathyroidism
| 2233 | Hypogonadism-mitral valve prolapse-intellectual disability syndrome
| 2248 | Hypoplastic left heart syndrome
| 446 | Neonatal hemochromatosis
| 2135 | Hennekam-Beemer syndrome
| 2140 | Congenital diaphragmatic hernia
| 2185 | Congenital hydrocephalus
| 2113 | Congenital hypothalamic hamartoma syndrome
| 2116 | Hartnup disease
| 2118 | Hawkinsinuria
| 167848 | Cardiomyopathy
| 351 | Galactosialidosis

« Previous 100 items Next 100 items » 1 2 3 4 5 6 7 8 ... 97

Document Actions

Send this