orphafolder

| 69744 | Circumscribed palmoplantar hypokeratosis
| 69745 | Warty dyskeratoma
| 69735 | Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
| 69736 | Bilateral acute depigmentation of the iris
| 69737 | Bosley-Salih-Alorainy syndrome
| 69739 | Athabaskan brainstem dysgenesis syndrome
| 69663 | Low phospholipid-associated cholelithiasis
| 69665 | Intrahepatic cholestasis of pregnancy
| 69723 | Tyrosinemia type 3
| 69126 | Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
| 69087 | Naegeli-Franceschetti-Jadassohn syndrome
| 69125 | Anonychia with flexural pigmentation
| 69088 | Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome
| 69083 | Ectodermal dysplasia with natal teeth, Turnpenny type
| 69082 | Odonto-tricho-ungual-digito-palmar syndrome
| 69085 | Limb-mammary syndrome
| 69084 | Pure hair and nail ectodermal dysplasia
| 69077 | Rhabdoid tumor
| 69076 | Familial renal glucosuria
| 69078 | Liposarcoma
| 69061 | Idiopathic steroid-sensitive nephrotic syndrome
| 69063 | Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization
| 67048 | 3-methylglutaconic aciduria type 4
| 69028 | Dysostosis with brachydactyly
| 67046 | 3-methylglutaconic aciduria type 1
| 67047 | 3-methylglutaconic aciduria type 3
| 67044 | Thrombocytopenia with congenital dyserythropoietic anemia
| 67045 | X-linked intellectual disability with isolated growth hormone deficiency
| 67042 | Late-onset retinal degeneration
| 67043 | Acanthamoeba keratitis
| 67039 | Segmental odontomaxillary dysplasia
| 67041 | Hyaluronidase deficiency
| 67038 | B-cell chronic lymphocytic leukemia
| 66662 | Extracutaneous mastocytoma
| 67036 | Autosomal dominant optic atrophy and cataract
| 66661 | Mast cell sarcoma
| 66646 | Cutaneous mastocytosis
| 66637 | Diaphanospondylodysostosis
| 66634 | Dilated cardiomyopathy with ataxia
| 66633 | Sensorineural hearing loss-early graying-essential tremor syndrome
| 66631 | CEDNIK syndrome
| 66630 | Congenital pseudoarthrosis of the clavicle
| 66629 | Goldberg-Shprintzen megacolon syndrome
| 66628 | Obesity due to congenital leptin deficiency
| 66627 | Pigmented villonodular synovitis
| 66625 | Cerebrooculonasal syndrome
| 66624 | PANDAS
| 66529 | Tako-Tsubo cardiomyopathy
| 66518 | Short fifth metacarpals-insulin resistance syndrome
| 65798 | Goodman syndrome
| 65283 | Timothy syndrome
| 65282 | Carvajal syndrome
| 65285 | Lhermitte-Duclos disease
| 65284 | Biotin-thiamine-responsive basal ganglia disease
| 65287 | Beta-ureidopropionase deficiency
| 65286 | 3q29 microdeletion syndrome
| 65681 | Vaginal atresia
| 65288 | Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome
| 65683 | Isolated focal cortical dysplasia
| 65682 | Benign recurrent intrahepatic cholestasis
| 65720 | Arthrogryposis-severe scoliosis syndrome
| 65684 | Monomelic amyotrophy
| 65748 | Multiple self-healing squamous epithelioma
| 65743 | Autosomal dominant multiple pterygium syndrome
| 65759 | Carpenter syndrome
| 65753 | Charcot-Marie-Tooth disease type 1
| 64744 | IgG4-related thyroid disease
| 64745 | Pruritic urticarial papules and plaques of pregnancy
| 64746 | Autosomal dominant Charcot-Marie-Tooth disease type 2
| 64747 | X-linked Charcot-Marie-Tooth disease
| 64748 | Dejerine-Sottas syndrome
| 64749 | Charcot-Marie-Tooth disease type 4
| 64751 | Hereditary motor and sensory neuropathy type 5
| 64752 | Hereditary sensory and autonomic neuropathy type 5
| 64753 | Spinocerebellar ataxia with axonal neuropathy type 2
| 64754 | Nevus comedonicus syndrome
| 64755 | Becker nevus syndrome
| 64686 | Tolosa-Hunt syndrome
| 64545 | Benign idiopathic neonatal seizures
| 64542 | Acrofacial dysostosis, Kennedy-Teebi type
| 64280 | Childhood absence epilepsy
| 64722 | Granulomatous mastitis
| 64720 | Leiomyosarcoma
| 64694 | Trench fever
| 64692 | Oroya fever
| 64739 | Ovarian hyperstimulation syndrome
| 64734 | Iridocorneal endothelial syndrome
| 64743 | Hepatoportal sclerosis
| 64742 | Pleuropulmonary blastoma
| 64741 | Pulmonary blastoma
| 64740 | Recurrent acute pancreatitis
| 63261 | HERNS syndrome
| 63269 | Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis
| 63259 | Iniencephaly
| 63260 | Craniorachischisis
| 63440 | Isolated oxycephaly
| 63442 | Angel-shaped phalango-epiphyseal dysplasia
| 63273 | Distal myopathy with posterior leg and anterior hand involvement
| 63275 | Pemphigoid gestationis
| 63454 | Pattern dystrophy

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