orphafolder

| 79172 | Creatine deficiency syndrome
| 79173 | Disorder of methionine cycle and sulfur amino acid metabolism
| 79171 | Disorder of cobalamin metabolism and transport
| 79168 | Disorder of bile acid synthesis
| 79169 | Disorder of neurotransmitter metabolism and transport
| 79166 | Disorder of amino acid absorption and transport
| 79167 | Disorder of urea cycle metabolism and ammonia detoxification
| 79163 | Classic organic aciduria
| 79161 | Disorder of carbohydrate metabolism
| 79158 | Cerebral organic aciduria
| 79159 | Isobutyryl-CoA dehydrogenase deficiency
| 79107 | Developmental malformations-deafness-dystonia syndrome
| 79106 | Eiken syndrome
| 79118 | Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome
| 79113 | Mandibulofacial dysostosis-microcephaly syndrome
| 79102 | Thyrotoxic periodic paralysis
| 79105 | Myxofibrosarcoma
| 79099 | Interstitial granulomatous dermatitis with arthritis
| 79098 | Sympathetic ophthalmia
| 79101 | Hyperprolinemia type 2
| 79100 | Atrophoderma vermiculata
| 79095 | Congenital bile acid synthesis defect type 4
| 79094 | Grange syndrome
| 79097 | Folinic acid-responsive seizures
| 79096 | Pyridoxal phosphate-responsive seizures
| 79138 | Bickerstaff brainstem encephalitis
| 79139 | Japanese encephalitis
| 79140 | Cutaneous neuroendocrine carcinoma
| 79141 | Hereditary painful callosities
| 79134 | DEND syndrome
| 79135 | Episodic ataxia type 3
| 79136 | Episodic ataxia type 4
| 79137 | Generalized epilepsy-paroxysmal dyskinesia syndrome
| 79129 | Trichodysplasia-amelogenesis imperfecta syndrome
| 79132 | Sparse hair-short stature-skin anomalies syndrome
| 79133 | Focal facial dermal dysplasia type I
| 79124 | Hepatic veno-occlusive disease-immunodeficiency syndrome
| 79126 | Acute interstitial pneumonia
| 79127 | Respiratory bronchiolitis-interstitial lung disease syndrome
| 79128 | Lymphoid interstitial pneumonia
| 77293 | Niemann-Pick disease type B
| 77295 | Odontoleukodystrophy
| 77261 | Gaucher disease type 3
| 77292 | Niemann-Pick disease type A
| 77298 | Anophthalmia/microphthalmia-esophageal atresia syndrome
| 77299 | Microphthalmia-brain atrophy syndrome
| 77296 | Morgagni-Stewart-Morel syndrome
| 77297 | Majeed syndrome
| 77302 | Oculo-oto-facial dysplasia
| 77300 | Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome
| 77301 | Monosomy 9q22.3
| 77828 | Genetic obesity
| 79022 | Simpson-Golabi-Behmel syndrome type 2
| 77830 | Rare genetic odontologic disease
| 79083 | PPARG-related familial partial lipodystrophy
| 79078 | IgG4-related dacryoadenitis and sialadenitis
| 79076 | Juvenile polyposis of infancy
| 79062 | Disorder of amino acid and other organic acid metabolism
| 79087 | Acquired partial lipodystrophy
| 79086 | Acquired generalized lipodystrophy
| 79085 | AKT2-related familial partial lipodystrophy
| 79084 | Familial partial lipodystrophy, Köbberling type
| 79093 | Foix-Alajouanine syndrome
| 79091 | Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome
| 79088 | Localized lipodystrophy
| 75327 | North Carolina macular dystrophy
| 75373 | Progressive bifocal chorioretinal atrophy
| 75374 | Bradyopsia
| 75376 | Familial drusen
| 75377 | Central areolar choroidal dystrophy
| 75378 | Oligocone trichromacy
| 75381 | Cystoid macular dystrophy
| 75382 | Oguchi disease
| 75389 | Brain malformation-congenital heart disease-postaxial polydactyly syndrome
| 75391 | Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
| 75392 | Ehlers-Danlos syndrome, periodontitis type
| 75496 | Ehlers-Danlos syndrome, progeroid type
| 75497 | X-linked Ehlers-Danlos syndrome
| 75501 | Ehlers-Danlos syndrome, fibronectinemic type
| 75508 | Angioosteohypotrophic syndrome
| 75563 | X-linked sideroblastic anemia
| 75565 | Tropical endomyocardial fibrosis
| 75564 | Acquired idiopathic sideroblastic anemia
| 75567 | Primary progressive freezing gait
| 75566 | Loeffler endocarditis
| 75790 | Pollitt syndrome
| 75789 | SIBIDS syndrome
| 75857 | 6q terminal deletion syndrome
| 75840 | Congenital muscular dystrophy, Ullrich type
| 77240 | Primary lymphedema
| 75858 | MORM syndrome
| 77258 | Trichorhinophalangeal syndrome type 1 and 3
| 77243 | Lipedema
| 77260 | Gaucher disease type 2
| 77259 | Gaucher disease type 1
| 73271 | Bleeding diathesis due to a collagen receptor defect
| 73263 | Zygomycosis
| 73267 | Non-24-hour sleep-wake syndrome
| 73256 | Central neurocytoma
| 73260 | Paracoccidioidomycosis

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