orphafolder

| 2666 | Adult familial nephronophthisis-spastic quadriparesia syndrome
| 209943 | IRVAN syndrome
| 209932 | Cone dystrophy with supernormal rod response
| 2125 | Sacral hemangiomas-multiple congenital abnormalities syndrome
| 209919 | Idiopathic copper-associated cirrhosis
| 1434 | Choroideremia-hypopituitarism syndrome
| 209916 | Extraskeletal myxoid chondrosarcoma
| 2519 | Microcephaly-seizures-intellectual disability-heart disease syndrome
| 209370 | Severe neonatal-onset encephalopathy with microcephaly
| 209886 | Familial juvenile hyperuricemic nephropathy type 1
| 209867 | Autosomal dominant rhegmatogenous retinal detachment
| 210566 | Myoclonic dystonia 15
| 210571 | Dystonia 16
| 3286 | Catecholaminergic polymorphic ventricular tachycardia
| 210272 | Mal de débarquement
| 210548 | Macrocephaly-intellectual disability-autism syndrome
| 210159 | Adult hepatocellular carcinoma
| 3283 | His bundle tachycardia
| 210163 | Congenital lethal myopathy, Compton-North type
| 3240 | Central nervous system calcification-deafness-tubular acidosis-anemia syndrome
| 210141 | Inherited congenital spastic tetraplegia
| 210144 | Lethal polymalformative syndrome, Boissel type
| 1546 | Cryptococcosis
| 67 | Amoebiasis due to Entamoeba histolytica
| 210584 | Spindle cell hemangioma
| 210589 | Infantile hemangioma of rare localization
| 2023 | Undifferentiated pleomorphic sarcoma
| 416 | Primary hyperoxaluria
| 210576 | Congenital temporomandibular joint ankylosis
| 210581 | Temporomandibular joint anomaly
| 599 | Distal myopathy
| 3392 | Tularemia
| 211240 | Genetic vascular anomaly
| 211237 | Rare vascular tumor
| 1063 | Tufted angioma
| 2737 | Onchocerciasis
| 211067 | Episodic ataxia type 5
| 3343 | Toxocariasis
| 211062 | Hereditary episodic ataxia
| 211053 | Specific language disorder
| 2034 | Filariasis
| 211047 | Specific learning disability
| 2583 | Mycetoma
| 1685 | Distomatosis
| 211037 | Autosomal dominant proximal spinal muscular atrophy
| 211017 | Spinocerebellar ataxia type 30
| 1902 | Ehrlichiosis
| 656 | Familial idiopathic steroid-resistant nephrotic syndrome
| 211277 | Complex vascular malformation with associated anomalies
| 211266 | Rare arteriovenous malformation
| 655 | Nephronophthisis
| 211255 | Rare lymphatic system malformation
| 211252 | Rare venous malformation
| 2415 | Rare lymphatic malformation
| 211247 | Rare capillary malformation
| 2122 | Kaposiform hemangioendothelioma
| 211243 | Simple vascular malformation
| 2591 | Infantile myofibromatosis
| 35 | Propionic acidemia
| 407 | Glycine encephalopathy
| 2968 | Leukocyte adhesion deficiency
| 663 | Mitochondrial DNA-related progressive external ophthalmoplegia
| 137 | Congenital disorder of glycosylation
| 220 | Denys-Drash syndrome
| 5 | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
| 85 | Congenital dyserythropoietic anemia
| 25 | Glutaryl-CoA dehydrogenase deficiency
| 177 | Rhizomelic chondrodysplasia punctata
| 1246 | Brachydactyly-nystagmus-cerebellar ataxia syndrome
| 618 | Familial melanoma
| 359 | Hereditary glaucoma
| 309 | Familial partial epilepsy
| 213500 | Ovarian cancer
| 2364 | Glycogen storage disease due to lactate dehydrogenase deficiency
| 711 | Glycogen storage disease due to phosphoglucomutase deficiency
| 818 | Smith-Lemli-Opitz syndrome
| 213512 | Malignant mixed Müllerian tumor of the ovary
| 213504 | Adenocarcinoma of ovary
| 175 | Cartilage-hair hypoplasia
| 209 | Cutis laxa
| 42 | Medium chain acyl-CoA dehydrogenase deficiency
| 213564 | Rare uterine cancer
| 213557 | Salivary gland type cancer of the breast
| 213574 | Rare variants of adenocarcinoma of the corpus uteri
| 213569 | Rare cancer of corpus uteri
| 213524 | Hereditary site-specific ovarian cancer syndrome
| 213517 | Familial ovarian cancer
| 2066 | Gamma-aminobutyric acid transaminase deficiency
| 300 | Bifunctional enzyme deficiency
| 213531 | Metaplastic carcinoma of the breast
| 213528 | Rare adenocarcinoma of the breast
| 3188 | Congenital pulmonary veins atresia or stenosis
| 213605 | Carcinofibroma of the corpus uteri
| 213610 | Carcinosarcoma of the corpus uteri
| 3161 | Congenital pulmonary sequestration
| 213589 | Malignant mixed epithelial and mesenchymal tumor of corpus uteri
| 213600 | Adenosarcoma of the corpus uteri
| 860 | Congenitally uncorrected transposition of the great arteries
| 213625 | Leiomyosarcoma of the corpus uteri
| 185 | Scimitar syndrome

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