orphafolder

| 419 | Hyperprolinemia type 1
| 1501 | Adrenocortical carcinoma
| 226316 | Genetic transient congenital hypothyroidism
| 2677 | Neuroepithelioma
| 226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function
| 3148 | Malignant peripheral nerve sheath tumor
| 3273 | Synovial sarcoma
| 226313 | Congenital hypothyroidism due to maternal intake of antithyroid drugs
| 226310 | Peripheral hypothyroidism
| 391 | Classic Hodgkin lymphoma
| 2260 | Oligomeganephronia
| 225689 | Amino acid or protein metabolism disease with epilepsy
| 503 | Larsen syndrome
| 225692 | Metal transport or utilization disorder with epilepsy
| 225696 | Energy metabolism disorder with epilepsy
| 1652 | Dent disease
| 225700 | Mitochondrial disease with epilepsy
| 2542 | Isolated microphthalmia-anophthalmia-coloboma
| 3280 | Syringomyelia
| 225681 | Lysosomal disease with epilepsy
| 2478 | Megalencephalic leukoencephalopathy with subcortical cysts
| 225686 | Peroxisomal disease with epilepsy
| 3337 | Primary Fanconi syndrome
| 223 | Nephrogenic diabetes insipidus
| 225703 | Mitochondrial disease with peripheral neuropathy
| 225707 | Metabolic neurotransmission anomaly with epilepsy
| 225710 | Sterol metabolism disorder with epilepsy
| 757 | Pseudohypoaldosteronism type 2
| 225713 | Other metabolic disease with epilepsy
| 228423 | Monocytopenia with susceptibility to infections
| 521 | Chronic myeloid leukemia
| 228415 | 5q35 microduplication syndrome
| 132 | Butyrylcholinesterase deficiency
| 1172 | Autosomal recessive cerebellar ataxia
| 229717 | Isolated agammaglobulinemia
| 229720 | Syndromic agammaglobulinemia
| 228426 | Syndromic multisystem autoimmune disease due to Itch deficiency
| 2345 | Isolated Klippel-Feil syndrome
| 1333 | Familial pancreatic carcinoma
| 228429 | Generalized congenital lipodystrophy with myopathy
| 228396 | Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome
| 228387 | Spondylo-megaepiphyseal-metaphyseal dysplasia
| 228390 | Frontonasal dysplasia-alopecia-genital anomalies syndrome
| 228407 | Craniofacial dysmorphism-skeletal anomalies-intellectual disability syndrome
| 228410 | Polyvalvular heart disease syndrome
| 228399 | 8q12 microduplication syndrome
| 2781 | Osteopetrosis and related disorders
| 228402 | 2q23.1 microdeletion syndrome
| 228366 | CLN7 disease
| 228363 | CLN6 disease
| 228360 | CLN5 disease
| 228357 | CLN9 disease
| 228384 | 5q14.3 microdeletion syndrome
| 228379 | Virus-associated trichodysplasia spinulosa
| 228374 | Charcot-Marie-Tooth disease type 2B5
| 228371 | Foodborne botulism
| 228340 | CLN4A disease
| 228337 | CLN10 disease
| 228329 | CLN1 disease
| 228354 | CLN8 disease
| 228349 | CLN2 disease
| 228346 | CLN3 disease
| 228343 | CLN4B disease
| 228290 | White fibrous papulosis of the neck
| 228293 | Pseudoxanthoma elasticum-like papillary dermal elastolysis
| 228299 | Mid-dermal elastolysis
| 228302 | Carnitine palmitoyl transferase II deficiency, myopathic form
| 228305 | Carnitine palmitoyl transferase II deficiency, severe infantile form
| 228308 | Carnitine palmitoyl transferase II deficiency, neonatal form
| 228312 | Autoimmune hemolytic anemia, cold type
| 228240 | Elastoderma
| 228243 | Elastofibroma dorsi
| 135 | CACH syndrome
| 228247 | Acquired pseudoxanthoma elasticum
| 228254 | Elastoma
| 228264 | Papular elastorrhexis
| 228272 | Primary anetoderma
| 228277 | Familial anetoderma
| 228285 | Acquired cutis laxa
| 228190 | Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome
| 3203 | Overhydrated hereditary stomatocytosis
| 3202 | Dehydrated hereditary stomatocytosis
| 228218 | Acquired dermis elastic tissue disorder
| 228215 | Genetic dermis elastic tissue disorder
| 228224 | Acquired dermis elastic tissue disorder with increased elastic tissue
| 228221 | Acquired dermis elastic tissue disorder with decreased elastic tissue
| 1544 | Benign focal seizures of adolescence
| 228236 | Linear focal elastosis
| 228227 | Late-onset focal dermal elastosis
| 228145 | Multiple sclerosis variant
| 228140 | Idiopathic ventricular fibrillation, non Brugada type
| 1018 | X-linked diffuse leiomyomatosis-Alport syndrome
| 228165 | Baló concentric sclerosis
| 306 | Benign familial infantile epilepsy
| 228157 | Marburg acute multiple sclerosis
| 328 | Congenital factor X deficiency
| 228174 | Autosomal dominant Charcot-Marie-Tooth disease type 2N
| 228169 | Autosomal dominant striatal neurodegeneration
| 2132 | Hemoglobin C disease
| 228184 | Heart-hand syndrome

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