-
| 189427 | Cushing syndrome due to macronodular adrenal hyperplasia
-
| 3129 | Sarcosinemia
-
| 415 | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
-
| 13 | 6-pyruvoyl-tetrahydropterin synthase deficiency
-
| 199257 | Superficial fibromatosis
-
| 2494 | Ménétrier disease
-
| 171 | Primary sclerosing cholangitis
-
| 199251 | Ledderhose disease
-
| 199247 | Corticosteroid-binding globulin deficiency
-
| 199244 | Nelson syndrome
-
| 199241 | Pulmonary capillary hemangiomatosis
-
| 2134 | Atypical hemolytic-uremic syndrome
-
| 189466 | Familial isolated hypoparathyroidism due to impaired PTH secretion
-
| 17 | Fatal infantile lactic acidosis with methylmalonic aciduria
-
| 189439 | Primary pigmented nodular adrenocortical disease
-
| 3006 | Pyridoxine-dependent epilepsy
-
| 780 | Rhabdomyosarcoma
-
| 3111 | Rotor syndrome
-
| 2382 | Lennox-Gastaut syndrome
-
| 2806 | Subacute sclerosing leukoencephalitis
-
| 2467 | Systemic mastocytosis
-
| 1934 | Early infantile epileptic encephalopathy
-
| 845 | Tay-Sachs disease
-
| 1942 | Myoclonic-astastic epilepsy
-
| 1935 | Early myoclonic encephalopathy
-
| 1943 | Early-onset progressive encephalopathy with migrant continuous myoclonus
-
| 3451 | West syndrome
-
| 3299 | Tetanus
-
| 2302 | Asbestos intoxication
-
| 770 | Rabies
-
| 3386 | American trypanosomiasis
-
| 267 | Autosomal recessive limb-girdle muscular dystrophy type 2A
-
| 1329 | Complete atrioventricular canal
-
| 582 | Mucopolysaccharidosis type 4
-
| 2137 | Autoimmune hepatitis
-
| 186 | Primary biliary cholangitis
-
| 1136 | Arnold-Chiari malformation type II
-
| 397 | Giant cell arteritis
-
| 2932 | Chronic inflammatory demyelinating polyneuropathy
-
| 2398 | Multiple symmetric lipomatosis
-
| 1656 | Dermatitis herpetiformis
-
| 183763 | Rare genetic syndromic intellectual disability
-
| 183770 | Rare genetic immune disease
-
| 850 | May-Hegglin thrombocytopenia
-
| 3198 | Stiff person syndrome and related disorders
-
| 183757 | Rare genetic intellectual disability
-
| 2929 | Juvenile polyposis syndrome
-
| 131 | Budd-Chiari syndrome
-
| 646 | Niemann-Pick disease type C
-
| 654 | Nephroblastoma
-
| 1489 | Whooping cough
-
| 2764 | Osteochondritis dissecans
-
| 2587 | Myeloperoxidase deficiency
-
| 3389 | Tuberculosis
-
| 1679 | Diphtheria
-
| 1267 | Botulism
-
| 2897 | Pityriasis rubra pilaris
-
| 2103 | Guillain-Barré syndrome
-
| 183669 | Agammaglobulinemia
-
| 183666 | Hyper-IgM syndrome without susceptibility to opportunistic infections
-
| 2070 | Eosinophilic gastroenteritis
-
| 183663 | Hyper-IgM syndrome with susceptibility to opportunistic infections
-
| 2312 | Transient familial neonatal hyperbilirubinemia
-
| 183707 | Neutrophil immunodeficiency syndrome
-
| 2314 | Autosomal dominant hyper-IgE syndrome
-
| 183681 | Functional neutrophil defect
-
| 449 | Hepatoblastoma
-
| 183678 | Hermansky-Pudlak syndrome with neutropenia
-
| 183675 | Recurrent infections associated with rare immunoglobulin isotypes deficiency
-
| 2177 | Hydranencephaly
-
| 183731 | Rare genetic gynecological and obstetrical diseases
-
| 533 | Listeriosis
-
| 183716 | Other complex syndrome of primary immunodeficiency
-
| 183713 | Pyogenic bacterial infections due to MyD88 deficiency
-
| 2372 | Laryngocele
-
| 183710 | Genetic susceptibility to infections due to particular pathogens
-
| 2380 | Legg-Calvé-Perthes disease
-
| 683 | Progressive supranuclear palsy
-
| 677 | Pancreatoblastoma
-
| 183734 | Genetic gynecological tumor
-
| 183651 | Rare constitutional anemia
-
| 183660 | Severe combined immunodeficiency
-
| 897 | Waardenburg-Shah syndrome
-
| 183654 | Rare genetic coagulation disorder
-
| 183637 | Rare genetic adrenal disease
-
| 808 | Seckel syndrome
-
| 183643 | Genetic polyendocrinopathy
-
| 183628 | Rare genetic hypothalamic or pituitary disease
-
| 183625 | Rare genetic diabetes mellitus
-
| 183634 | Rare genetic parathyroid disease and phosphocalcic metabolism disorder
-
| 844 | Lown-Ganong-Levine syndrome
-
| 183631 | Rare genetic thyroid disease
-
| 183616 | Genetic neuro-ophthalmological disease
-
| 3027 | Caudal regression sequence
-
| 183622 | Genetic respiratory malformation
-
| 183619 | Genetic eye tumor
-
| 183607 | Genetic lens and zonula anomaly
-
| 183589 | Genetic thrombotic microangiopathy
-
| 676 | Hereditary chronic pancreatitis
-
| 183592 | Genetic renal tubular disease
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