orphafolder

| 324581 | Benign Samaritan congenital myopathy
| 324585 | Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain
| 324569 | Pontocerebellar hypoplasia type 8
| 324575 | Hyperinsulinism due to HNF1A deficiency
| 324540 | Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome
| 324561 | Hypopigmentation-punctate palmoplantar keratoderma syndrome
| 324530 | Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
| 324535 | Combined oxidative phosphorylation defect type 11
| 324525 | Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation
| 324442 | Autosomal recessive axonal neuropathy with neuromyotonia
| 324416 | Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome
| 324422 | ALG13-CDG
| 324410 | X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome
| 324381 | Hereditary inclusion body myopathy type 4
| 324364 | Mixed sclerosing bone dystrophy with extra-skeletal manifestations
| 324353 | Congenital achiasma
| 324321 | Sinoatrial node dysfunction and deafness
| 324313 | 9p13 microdeletion syndrome
| 324307 | Severe lateral tibial bowing with short stature
| 324299 | Multiple paragangliomas associated with polycythemia
| 324294 | T-cell immunodeficiency with epidermodysplasia verruciformis
| 324290 | Early-onset Lafora body disease
| 322126 | Genetic tumor of hematopoietic and lymphoid tissues
| 324262 | Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency
| 319719 | Autoinflammatory syndrome of childhood
| 320317 | Cleft lip/palate-ectodermal dysplasia syndrome
| 320332 | X-linked pure spastic paraplegia
| 320335 | Pure or complex hereditary spastic paraplegia
| 320342 | Pure or complex autosomal dominant spastic paraplegia
| 320346 | Pure or complex autosomal recessive spastic paraplegia
| 320350 | Pure or complex X-linked spastic paraplegia
| 320360 | MT-ATP6-related mitochondrial spastic paraplegia
| 320355 | Autosomal dominant spastic paraplegia type 41
| 320370 | Autosomal recessive spastic paraplegia type 43
| 320365 | Autosomal dominant spastic paraplegia type 36
| 320380 | Autosomal recessive spastic paraplegia type 54
| 320375 | Autosomal recessive spastic paraplegia type 55
| 320391 | Autosomal recessive spastic paraplegia type 46
| 320385 | Hereditary sensory and autonomic neuropathy due to TECPR2 mutation
| 320401 | Autosomal recessive spastic paraplegia type 44
| 320396 | Autosomal recessive spastic paraplegia type 45
| 320411 | Autosomal recessive spastic paraplegia type 56
| 320406 | Spastic paraplegia-optic atrophy-neuropathy syndrome
| 319543 | Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency
| 319547 | Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency
| 319535 | Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency
| 319539 | Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency
| 319519 | Combined oxidative phosphorylation defect type 14
| 319524 | Combined oxidative phosphorylation defect type 15
| 319509 | Combined oxidative phosphorylation defect type 9
| 319514 | Combined oxidative phosphorylation defect type 13
| 319589 | Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency
| 319595 | Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
| 319574 | Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency
| 319581 | Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency
| 319563 | Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
| 319569 | Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency
| 319552 | Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
| 319558 | Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
| 319651 | Constitutional megaloblastic anemia with severe neurologic disease
| 319646 | PGM1-CDG
| 319640 | Retinal macular dystrophy type 2
| 319635 | Amyloidosis cutis dyschromia
| 319623 | X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency
| 319612 | X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency
| 319605 | X-linked mendelian susceptibility to mycobacterial diseases
| 319600 | Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
| 319678 | Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome
| 319675 | Microcephalic primordial dwarfism, Dauber type
| 319671 | Microcephalic primordial dwarfism, Alazami type
| 319667 | Primary lymphoma of the conjunctiva
| 319254 | Kyasanur forest disease
| 319266 | Omsk hemorrhagic fever
| 319269 | Susceptibility/resistance to HIV infection
| 319276 | Clear cell renal carcinoma
| 319239 | Brazilian hemorrhagic fever
| 319244 | Chapare hemorrhagic fever
| 319247 | Hantavirus pulmonary syndrome
| 319251 | Rift valley fever
| 319314 | Renal cell carcinoma associated with neuroblastoma
| 319319 | Renal medullary carcinoma
| 319322 | Mucinous tubular and spindle cell renal carcinoma
| 319325 | Tubulocystic renal cell carcinoma
| 319287 | Multilocular cystic renal neoplasm of low malignant potential
| 319298 | Papillary renal cell carcinoma
| 319303 | Chromophobe renal cell carcinoma
| 319308 | MiT family translocation renal cell carcinoma
| 319332 | Autosomal recessive myogenic arthrogryposis multiplex congenita
| 319328 | Inherited renal cancer-predisposing syndrome
| 319340 | Carney complex-trismus-pseudocamptodactyly syndrome
| 319487 | Familial papillary or follicular thyroid carcinoma
| 319480 | Acute myeloid leukemia with CEBPA somatic mutations
| 319504 | Combined oxidative phosphorylation defect type 8
| 319494 | Familial nonmedullary thyroid carcinoma
| 319465 | Inherited acute myeloid leukemia
| 319462 | Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations
| 319205 | Bilateral massive adrenal hemorrhage
| 319213 | Lujo hemorrhagic fever
| 319195 | Chondroectodermal dysplasia with night blindness
| 319199 | Autosomal recessive spastic paraplegia type 53

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