orphafolder

| 420402 | Semicircular canal dehiscence syndrome
| 420429 | Glycogen storage disease due to acid maltase deficiency, late-onset
| 420611 | Transient myeloproliferative syndrome
| 420584 | Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
| 420699 | Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency
| 420686 | Woolly hair-palmoplantar keratoderma syndrome
| 420561 | Temple-Baraitser syndrome
| 420573 | Severe combined immunodeficiency due to CTPS1 deficiency
| 420566 | Bleeding disorder due to CalDAG-GEFI deficiency
| 423461 | Mucolipidosis type III alpha/beta
| 423470 | Mucolipidosis type III gamma
| 423454 | Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome
| 423384 | Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
| 423296 | Spinocerebellar ataxia type 38
| 423306 | Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome
| 423717 | Cutaneous larva migrans
| 423771 | Rare carcinoma of stomach
| 423693 | Double outlet right ventricle with subaortic or doubly committed ventricular septal defect
| 423712 | Double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy
| 423662 | Rare autonomic nervous system disorder
| 423479 | X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome
| 423655 | ARX-related encephalopathy-brain malformation spectrum
| 422526 | Hereditary clear cell renal cell carcinoma
| 422519 | 3-Phosphoglycerate dehydrogenase deficiency
| 423275 | Spinocerebellar ataxia type 40
| 424065 | Solid pseudopapillary carcinoma of pancreas
| 424058 | Intraductal papillary mucinous carcinoma of pancreas
| 424080 | Osteoclastic giant cell tumor of pancreas
| 424073 | Serous cystadenocarcinoma of pancreas
| 424107 | Congenital myopathy with myasthenic-like onset
| 424099 | Colobomatous microphthalmia-rhizomelic dysplasia syndrome
| 424925 | Qualitative or quantitative defects of Torsin-1A-interacting protein 1
| 424261 | Autosomal recessive limb-girdle muscular dystrophy type 2Y
| 424016 | Adenocarcinoma of the anal canal
| 424013 | Carcinoma of the anal canal
| 424027 | Progressive myoclonic epilepsy type 8
| 424019 | Squamous cell carcinoma of the anal canal
| 424039 | Squamous cell carcinoma of pancreas
| 424033 | Rare epithelial tumor of pancreas
| 424053 | Mucinous cystadenocarcinoma of the pancreas
| 424046 | Acinar cell carcinoma of pancreas
| 423968 | Squamous cell carcinoma of the small intestine
| 423975 | Neuroendocrine tumor of the small intestine
| 423982 | Epithelial tumor of the appendix
| 423991 | Rare epithelial tumor of colon
| 423994 | Squamous cell carcinoma of the colon
| 423998 | Rare epithelial tumor of rectum
| 424002 | Squamous cell carcinoma of the rectum
| 424010 | Epithelial tumor of anal canal
| 423776 | Hereditary gastric cancer
| 423781 | Carcinoma of stomach, salivary gland type
| 423786 | Undifferentiated carcinoma of stomach
| 423793 | Rare tumor of small intestine
| 423798 | Mesenchymal tumor of small intestine
| 423894 | Microcephaly-complex motor and sensory axonal neuropathy syndrome
| 423957 | Rare carcinoma of small intestine
| 431140 | X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome
| 425368 | Rare epithelial tumor of small intestine
| 425003 | Inherited digestive cancer-predisposing syndrome
| 425120 | STING-associated vasculopathy with onset in infancy
| 424943 | Adenocarcinoma of the liver and intrahepatic biliary tract
| 424970 | Undifferentiated carcinoma of liver and intrahepatic biliary tract
| 424933 | Rare epithelial tumor of liver and intrahepatic biliary tract
| 424936 | Carcinoma of liver and intrahepatic biliary tract
| 424991 | Adenocarcinoma of the gallbladder and extrahepatic biliary tract
| 424996 | Squamous cell carcinoma of gallbladder and extrahepatic biliary tract
| 424975 | Squamous cell carcinoma of liver and intrahepatic biliary tract
| 424982 | Biliary cystadenocarcinoma
| 431361 | Progressive encephalopathy with leukodystrophy due to DECR deficiency
| 431353 | Pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis
| 431341 | Patent urachus
| 431344 | Urachal sinus
| 431347 | Urachal diverticulum
| 431272 | X-linked scapuloperoneal muscular dystrophy
| 431320 | Spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder
| 431329 | Autosomal recessive spastic paraplegia type 57
| 431255 | Scapuloperoneal spinal muscular atrophy
| 431263 | Late-onset scapuloperoneal muscular dystrophy with hyaline bodies
| 431149 | Combined immunodeficiency due to OX40 deficiency
| 431156 | Primary immunodeficiency with predisposition to severe viral infection
| 431166 | Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
| 435438 | Progressive myoclonic epilepsy type 7
| 435387 | Autosomal dominant Charcot-Marie-Tooth disease type 2Y
| 435372 | Anterior urethral valve
| 435365 | Fetal lower urinary tract obstruction
| 435329 | Familial ossifying fibroma
| 434809 | Syndrome with woolly hair
| 434786 | Rare genetic autonomic nervous system disorder
| 434179 | Orofaciodigital syndrome type 14
| 504476 | Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
| 504523 | Severe combined immunodeficiency due to LAT deficiency
| 504530 | Combined immunodeficiency due to Moesin deficiency
| 505395 | Ventilator-induced diaphragmatic dysfunction
| 505227 | Combined immunodeficiency due to GINS1 deficiency
| 505237 | Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome
| 505216 | 3-methylglutaconic aciduria type 9
| 505208 | 3-methylglutaconic aciduria type 8
| 505248 | Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders
| 505242 | Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome
| 508093 | MEPAN syndrome

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