orphafolder

| 498251 | Menstrual cycle-dependent periodic fever
| 498228 | Phyllodes tumor of the prostate
| 499085 | Chronic relapsing inflammatory optic neuropathy
| 498700 | Limbic encephalitis with neurexin-3 antibodies
| 499009 | Congenital syphilis
| 499004 | Tuberculous meningitis
| 499047 | Autoimmune/inflammatory optic neuropathy
| 498497 | Short rib-polydactyly syndrome type 5
| 498602 | Sugarman brachydactyly
| 498693 | MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome
| 498470 | Non-syndromic complex polydactyly
| 498474 | Hyaline fibromatosis syndrome
| 498477 | Ectrodactyly with and without other manifestations
| 498481 | LRP5-related primary osteoporosis
| 498485 | Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome
| 498488 | Overgrowth syndrome with 2q37 translocation
| 498491 | Complete hemimelia
| 498494 | Mirror-image polydactyly
| 499182 | Pilomatrix carcinoma
| 499107 | Idiopathic optic perineuritis
| 499096 | Isolated optic neuritis
| 499103 | Recurrent idiopathic neuroretinitis
| 485631 | Congenital bile acid synthesis defect
| 485426 | Isolated congenital hepatic fibrosis
| 486811 | Prenatal-onset spinal muscular atrophy with congenital bone fractures
| 486815 | Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome
| 485418 | EMILIN-1-related connective tissue disease
| 485421 | MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect
| 485382 | Genetic non-acquired premature ovarian failure
| 485405 | 16p12.1p12.3 triplication syndrome
| 485350 | CLCN4-related X-linked intellectual disability syndrome
| 485358 | Propylthiouracil embryofetopathy
| 485275 | Acquired schizencephaly
| 482606 | X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome
| 482092 | Rare idiopathic macular telangiectasia
| 482601 | Adenylosuccinate synthetase-like 1-related distal myopathy
| 480864 | Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome
| 480907 | X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome
| 480898 | Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome
| 480880 | X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability
| 480556 | Isolated neonatal sclerosing cholangitis
| 480553 | Aneurysmal bone cyst
| 480549 | Non-severe combined immunodeficiency
| 480541 | High grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement
| 480851 | Hereditary thrombocytopenia with early-onset myelofibrosis
| 480701 | Facial diplegia with paresthesias
| 480682 | Autosomal recessive limb-girdle muscular dystrophy type 2Z
| 481665 | USP18 deficiency
| 481671 | Type 1 interferonopathy of childhood
| 482072 | HTRA1-related cerebral small vessel disease
| 482077 | HTRA1-related autosomal dominant cerebral small vessel disease
| 481771 | Genetic alopecia
| 481986 | Familial schizencephaly
| 481152 | PYCR2-related microcephaly-progressive leukoencephalopathy
| 481662 | Familial Chilblain lupus
| 481508 | Gastroenteric neuroendocrine neoplasm
| 480476 | Progressive familial intrahepatic cholestasis type 5
| 480491 | MYO5B-related progressive familial intrahepatic cholestasis
| 480483 | Progressive familial intrahepatic cholestasis type 4
| 480528 | Lethal hydranencephaly-diaphragmatic hernia syndrome
| 480524 | Idiopathic peliosis hepatis
| 480536 | MSH3-related attenuated familial adenomatous polyposis
| 480531 | Congenital portosystemic shunt
| 480506 | Primary intrahepatic lithiasis
| 480501 | Choledochal cyst
| 480520 | Caroli syndrome
| 480512 | Idiopathic ductopenia
| 477811 | Rare hypercholesterolemia
| 477814 | Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
| 477805 | Genetic cardiac malformation
| 477808 | Other genetic dermis disorder
| 477794 | Syndromic constitutional thrombocytopenia
| 477797 | Isolated constitutional thrombocytopenia
| 477781 | Primary condylar hyperplasia
| 477787 | Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder
| 478029 | Combined oxidative phosphorylation defect type 29
| 478042 | Combined oxidative phosphorylation defect type 30
| 477993 | Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome
| 477857 | Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
| 477817 | PMP22-RAI1 contiguous gene duplication syndrome
| 477831 | Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
| 478049 | Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome
| 478664 | Hereditary sensory and autonomic neuropathy type 8
| 477647 | Type 1 interferonopathy
| 477650 | Fibroblastic rheumatism
| 477661 | IL21-related infantile inflammatory bowel disease
| 477684 | Combined oxidative phosphorylation defect type 26
| 477673 | Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome
| 477738 | Pediatric multiple sclerosis
| 477749 | Pontine autosomal dominant microangiopathy with leukoencephalopathy
| 477742 | Nodular fasciitis
| 477759 | COL4A1 or COL4A2-related cerebral small vessel disease
| 477754 | Genetic cerebral small vessel disease
| 477765 | COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendancy
| 477762 | COL4A1 or COL4A2-related cerebral small vessel disease with ischemic tendancy
| 477771 | Rare disorder with a moyamoya angiopathy
| 477768 | Moyamoya angiopathy
| 477774 | Combined oxidative phosphorylation defect type 27
| 476116 | Demyelinating hereditary motor and sensory neuropathy
| 476119 | Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome

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