orphafolder

| 254367 | Rare lichen planus
| 2776 | Autosomal recessive distal osteolysis syndrome
| 2777 | Osteomesopyknosis
| 254361 | Autosomal recessive limb-girdle muscular dystrophy type 2Q
| 2774 | Multicentric carpo-tarsal osteolysis with or without nephropathy
| 254351 | Distal 7q11.23 microdeletion syndrome
| 2775 | Autosomal recessive carpotarsal osteolysis
| 254346 | 19p13.12 microdeletion syndrome
| 2769 | Familial osteodysplasia, Anderson type
| 2770 | Nasu-Hakola disease
| 254343 | Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome
| 2767 | Carpotarsal osteochondromatosis
| 2768 | Blount disease
| 254334 | Autosomal recessive intermediate Charcot-Marie-Tooth disease type B
| 2762 | Progressive osseous heteroplasia
| 252212 | Malignant triton tumor
| 2763 | Osteocraniostenosis
| 252206 | Melanoma and neural system tumor syndrome
| 252202 | Constitutional mismatch repair deficiency syndrome
| 2759 | Imperforate oropharynx-costovertebral anomalies syndrome
| 2760 | OSLAM syndrome
| 252190 | Inherited nervous system cancer-predisposing syndrome
| 252183 | Neurofibroma
| 252175 | Vestibular schwannoma
| 2793 | Otoonychoperoneal syndrome
| 254516 | Temple syndrome
| 2792 | Otofaciocervical syndrome
| 254519 | Kagami-Ogata syndrome
| 254525 | Temple syndrome due to paternal 14q32.2 microdeletion
| 2798 | Pachygyria-intellectual disability-epilepsy syndrome
| 2796 | Pachydermoperiostosis
| 254528 | Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion
| 2789 | Lateral meningocele syndrome
| 254478 | Lichen planus pemphigoides
| 2788 | Osteoporosis-pseudoglioma syndrome
| 254492 | Frontal fibrosing alopecia
| 2791 | Otodental syndrome
| 254504 | Inhalational botulism
| 2790 | Endosteal hyperostosis, Worth type
| 254509 | Iatrogenic botulism
| 1306 | Buschke-Ollendorff syndrome
| 254411 | Annular atrophic lichen planus
| 254424 | Annular lichen planus
| 2783 | Autosomal dominant osteopetrosis type 1
| 2787 | Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome
| 254449 | Atrophic lichen planus
| 2786 | Osteoporosis-oculocutaneous hypopigmentation syndrome
| 254463 | Lichen planus pigmentosus
| 254370 | Rare cutaneous lichen planus
| 2780 | Osteopathia striata-cranial sclerosis syndrome
| 254373 | Rare mucosal lichen planus
| 2779 | Osteopathia striata-pigmentary dermopathy-white forelock syndrome
| 254379 | Linear lichen planus
| 254395 | Actinic lichen planus
| 667 | Autosomal recessive malignant osteopetrosis
| 2815 | Spastic paraparesis-deafness syndrome
| 254767 | Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA
| 254758 | Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies
| 2816 | Spastic paraplegia-epilepsy-intellectual disability syndrome
| 254788 | Mitochondrial DNA-related mitochondrial myopathy
| 2818 | Spastic paraplegia-glaucoma-intellectual disability syndrome
| 254776 | Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA
| 254723 | Pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome
| 2808 | Laryngeal abductor paralysis
| 2809 | Familial recurrent peripheral facial palsy
| 254712 | Familial sinus histiocytosis with massive lymphadenopathy
| 254749 | Tricarboxylic acid cycle disorder
| 2812 | Parana hard skin syndrome
| 254746 | Pyruvate metabolism disorder
| 2805 | Partial pancreatic agenesis
| 254698 | Epithelioid trophoblastic tumor
| 254693 | Partial hydatidiform mole
| 675 | Annular pancreas
| 2807 | Papilloma of choroid plexus
| 254707 | Faisalabad histiocytosis
| 678 | Papillon-Lefèvre syndrome
| 254704 | Genetic hyperferritinemia without iron overload
| 254534 | Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation
| 2802 | X-linked sideroblastic anemia and spinocerebellar ataxia
| 254531 | Temple syndrome due to paternal 14q32.2 hypomethylation
| 254688 | Complete hydatidiform mole
| 2804 | W syndrome
| 254685 | Gestational trophoblastic disease
| 261718 | Anomaly of chromosome 8
| 261715 | Anomaly of chromosome 7
| 261712 | Anomaly of chromosome 6
| 2491 | Müllerian duct anomalies-limb anomalies syndrome
| 261709 | Anomaly of chromosome 5
| 2492 | FATCO syndrome
| 2498 | Syndactyly type 8
| 261730 | Anomaly of chromosome 11
| 2499 | Metachondromatosis
| 261724 | Anomaly of chromosome 10
| 2496 | Mesomelia-synostoses syndrome
| 2497 | Upper limb mesomelic dysplasia
| 261721 | Anomaly of chromosome 9
| 261742 | Anomaly of chromosome 15
| 2502 | Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome
| 261739 | Anomaly of chromosome 14
| 261736 | Anomaly of chromosome 13

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