orphafolder

| 220443 | Bleeding diathesis due to thromboxane synthesis deficiency
| 218436 | Rare cardiac rhythm disease
| 218439 | Non-genetic cardiac rhythm disease
| 2170 | Methylcobalamin deficiency type cblG
| 220295 | Xeroderma pigmentosum-Cockayne syndrome complex
| 414 | Gyrate atrophy of choroid and retina
| 622 | Homocystinuria without methylmalonic aciduria
| 927 | Hyperammonemia due to N-acetylglutamate synthase deficiency
| 3402 | Transient tyrosinemia of the newborn
| 34 | Pipecolic acidemia
| 2880 | Phosphoenolpyruvate carboxykinase deficiency
| 941 | D-glyceric aciduria
| 220465 | Laron syndrome with immunodeficiency
| 220460 | Attenuated familial adenomatous polyposis
| 220489 | Rare hereditary hemochromatosis
| 19 | 2-hydroxyglutaric aciduria
| 2843 | Pentosuria
| 220497 | Joubert syndrome with renal defect
| 212 | Cystathioninuria
| 220493 | Joubert syndrome with ocular defect
| 470 | Lysinuric protein intolerance
| 1032 | Hyperdibasic aminoaciduria type 1
| 221074 | Marchiafava-Bignami disease
| 221078 | Combined hyperactive dysfunction syndrome of the cranial nerves
| 145 | Hereditary breast and ovarian cancer syndrome
| 2965 | Prolactinoma
| 221083 | Hemifacial spasm
| 221091 | Trigeminal neuralgia
| 538 | Lymphangioleiomyomatosis
| 221098 | Glossopharyngeal neuralgia
| 2942 | Postpoliomyelitis syndrome
| 221106 | Isolated facial myokymia
| 1578 | Pterin-4 alpha-carbinolamine dehydratase deficiency
| 221109 | Cranial neuralgia
| 221114 | Acquired peripheral movement disorder
| 3208 | Isolated succinate-CoQ reductase deficiency
| 221008 | Rothmund-Thomson syndrome type 1
| 24 | Fumaric aciduria
| 221016 | Rothmund-Thomson syndrome type 2
| 1561 | Fatal infantile cytochrome C oxidase deficiency
| 221039 | Hereditary sclerosing poikiloderma, Weary type
| 1460 | Isolated complex III deficiency
| 851 | Paris-Trousseau thrombocytopenia
| 221043 | Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome
| 221046 | Poikiloderma with neutropenia
| 221054 | Acrocephalopolydactyly
| 745 | Severe hereditary thrombophilia due to congenital protein C deficiency
| 849 | Glanzmann thrombasthenia
| 221061 | Familial cerebral cavernous malformation
| 225154 | Familial infantile bilateral striatal necrosis
| 225123 | Hemochromatosis type 3
| 225147 | Sporadic infantile bilateral striatal necrosis
| 222628 | Hereditary poikiloderma
| 223713 | Mitochondrial oxidative phosphorylation disorder
| 223735 | Lymphoma
| 223727 | Bone sarcoma
| 221117 | Gerstmann syndrome
| 221120 | Pseudoaminopterin syndrome
| 221126 | Fowler syndrome
| 221139 | Combined immunodeficiency with faciooculoskeletal anomalies
| 221142 | Confetti-like macular atrophy
| 221145 | Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
| 221150 | Pitt-Hopkins-like syndrome
| 228003 | Severe combined immunodeficiency due to CORO1A deficiency
| 3398 | Thymic epithelial neoplasm
| 228000 | Idiopathic CD4 lymphocytopenia
| 227990 | Autoimmune polyendocrinopathy type 4
| 547 | Non-Hodgkin lymphoma
| 842 | Testicular seminomatous germ cell tumor
| 227982 | Autoimmune polyendocrinopathy type 3
| 227976 | Autosomal recessive optic atrophy, OPA7 type
| 876 | Yolk sac tumor
| 227972 | Toxic oil syndrome
| 883 | Extragonadal teratoma
| 227796 | Fundus albipunctatus
| 228123 | Coccidioidomycosis
| 228119 | Fusariosis
| 228116 | Hughes-Stovin syndrome
| 228113 | Anal fistula
| 3399 | Germ cell tumor
| 389 | Langerhans cell histiocytosis
| 228012 | Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome
| 616 | Medulloblastoma
| 301 | Ependymal tumor
| 541 | Primary cutaneous CD30+ T-cell lymphoproliferative disease
| 543 | Burkitt lymphoma
| 319 | Ewing sarcoma
| 227535 | Hereditary breast cancer
| 668 | Osteosarcoma
| 227510 | Multiple system atrophy, cerebellar type
| 94 | Astrocytoma
| 360 | Glioblastoma
| 226292 | Permanent congenital hypothyroidism
| 513 | Acute lymphoblastic leukemia
| 1957 | Esthesioneuroblastoma
| 226298 | Central congenital hypothyroidism
| 2030 | Fibrosarcoma
| 2126 | Solitary fibrous tumor
| 226295 | Primary congenital hypothyroidism
| 758 | Pseudoxanthoma elasticum

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