orphafolder

| 1303 | Bronchiolitis obliterans with obstructive pulmonary disease
| 3348 | Tracheobronchopathia osteochondroplastica
| 2902 | Idiopathic chronic eosinophilic pneumonia
| 1302 | Cryptogenic organizing pneumonia
| 198 | Occipital horn syndrome
| 891 | Familial exudative vitreoretinopathy
| 225 | Maternally-inherited diabetes and deafness
| 401785 | Autosomal recessive spastic paraplegia type 62
| 401780 | Autosomal recessive spastic paraplegia type 61
| 401800 | Autosomal recessive spastic paraplegia type 60
| 401795 | Autosomal recessive spastic paraplegia type 59
| 401768 | Proximal myopathy with extrapyramidal signs
| 401764 | Pancytopenia-developmental delay syndrome
| 401777 | Optic atrophy-intellectual disability syndrome
| 401825 | Autosomal recessive spastic paraplegia type 68
| 401830 | Autosomal recessive spastic paraplegia type 69
| 401835 | Autosomal recessive spastic paraplegia type 70
| 401840 | Autosomal recessive spastic paraplegia type 71
| 401805 | Autosomal recessive spastic paraplegia type 63
| 401810 | Autosomal recessive spastic paraplegia type 64
| 401815 | Autosomal recessive spastic paraplegia type 66
| 401820 | Autosomal recessive spastic paraplegia type 67
| 401866 | Childhood-onset spasticity with hyperglycinemia
| 401869 | Multiple mitochondrial dysfunctions syndrome type 1
| 401874 | Multiple mitochondrial dysfunctions syndrome type 2
| 401849 | Autosomal spastic paraplegia type 72
| 401854 | Lipoic acid biosynthesis defect
| 401859 | Lipoic acid synthetase deficiency
| 401862 | Lipoyl transferase 1 deficiency
| 400008 | Rare genetic female infertility
| 400003 | Rare genetic disorder with obstructive azoospermia
| 399998 | Male infertility due to obstructive azoospermia of genetic origin
| 399994 | Rare male infertility due to adrenal disorder of genetic origin
| 399983 | Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin
| 399980 | Rare genetic male infertility
| 399882 | Rare female infertility due to an implantation defect
| 399877 | Rare female infertility due to gonadal dysgenesis
| 400025 | Female infertility due to an implantation defect of genetic origin
| 400022 | Rare female infertility due to an anomaly of ovarian function of genetic origin
| 400018 | Rare female infertility due to adrenal disorder of genetic origin
| 400011 | Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin
| 402823 | Hepatitis delta
| 401920 | Fibrolamellar hepatocellular carcinoma
| 401911 | AXIN2-related attenuated familial adenomatous polyposis
| 401901 | Huntington disease-like syndrome due to C9ORF72 expansions
| 401942 | Familial median cleft of the upper and lower lips
| 401935 | 14q24.1q24.3 microdeletion syndrome
| 401923 | 9q31.1q31.3 microdeletion syndrome
| 401959 | Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome
| 401953 | Episodic ataxia with slurred speech
| 401948 | Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
| 401945 | Moyamoya disease with early-onset achalasia
| 401986 | 1p31p32 microdeletion syndrome
| 401979 | Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type
| 401973 | MEND syndrome
| 401964 | Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons
| 402003 | Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering
| 402007 | Lichen myxedematosus
| 401993 | Cold-induced sweating syndrome-hyperthermia spectrum
| 401996 | Karyomegalic interstitial nephritis
| 402017 | Acute myeloid leukemia with t(9;11)(p22;q23)
| 402020 | Acute myeloid leukemia with inv3(q21;q26.2) or t(3;3)(q21;q26.2)
| 402014 | Acute myeloid leukemia with t(6;9)(p23;q34)
| 402029 | Primary eosinophilic gastrointestinal disease
| 402035 | Eosinophilic colitis
| 402023 | Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13)
| 402026 | Acute myeloid leukemia with NPM1 somatic mutations
| 402082 | Progressive myoclonic epilepsy type 5
| 402364 | Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
| 402041 | Autosomal recessive distal renal tubular acidosis
| 402075 | Familial bicuspid aortic valve
| 806 | Scott syndrome
| 404580 | Polyarticular juvenile idiopathic arthritis
| 404584 | Rare genetic bone development disorder
| 404469 | Rare female infertility due to oocyte maturation defect
| 404473 | Severe intellectual disability-progressive spastic diplegia syndrome
| 404463 | Multisystemic smooth muscle dysfunction syndrome
| 404466 | Female infertility due to zona pellucida defect
| 404451 | FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome
| 404454 | Alacrimia-choreoathetosis-liver dysfunction syndrome
| 404443 | Tall stature-intellectual disability-facial dysmorphism syndrome
| 404448 | ADNP syndrome
| 404437 | Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome
| 404440 | Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
| 404577 | Genetic syndrome with limb malformations as a major feature
| 404574 | Genetic syndrome with limb reduction defects
| 404571 | Dysostosis of genetic origin with limb anomaly as a major feature
| 404568 | Dysostosis of genetic origin
| 404560 | Familial atypical multiple mole melanoma syndrome
| 404553 | Vasculitis due to ADA2 deficiency
| 404546 | DITRA
| 404538 | X-linked distal hereditary motor neuropathy
| 404521 | Spinal muscular atrophy with respiratory distress type 2
| 404514 | Acquired cystic disease-associated renal cell carcinoma
| 404511 | Clear cell papillary renal cell carcinoma
| 404507 | Chondromyxoid fibroma
| 404499 | Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency
| 404493 | Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency
| 404481 | Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome
| 404476 | Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome

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