MEDLIB
Orphanet Database

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Болезней
4 552Генов
8 700Фенотипов
Найдено 3,968 заболеваний (Заболевание)Сбросить

Neonatal intrahepatic cholestasis due to citrin deficiency

ORPHA:247598Заболевание
Autosomal recessive

Neonatal iodine exposure

ORPHA:238688Заболевание
Not applicable

Neonatal lupus erythematosus

ORPHA:398124Заболевание
Not applicable

Neonatal renal venous thrombosis

ORPHA:664912Заболевание

Neonatal scleroderma

ORPHA:398127Заболевание

Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect

ORPHA:466784Заболевание
Autosomal recessive

Neonatal severe primary hyperparathyroidism

ORPHA:417Заболевание
Autosomal recessive, Not applicable

Nephroblastoma

ORPHA:654Заболевание
Autosomal dominant, Not applicable

Nephrogenic syndrome of inappropriate antidiuresis

ORPHA:93606Заболевание
X-linked recessive

Nephronophthisis

ORPHA:655Заболевание
Autosomal recessive

Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome

ORPHA:300333Заболевание
Autosomal recessive

Netherton syndrome

ORPHA:634Заболевание
Autosomal recessive

Neuralgic amyotrophy

ORPHA:2901Заболевание
Autosomal dominant, Not applicable

Neuroblastoma

ORPHA:635Заболевание
Not applicable

Neurocutaneous melanocytosis

ORPHA:2481Заболевание
Not applicable

Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency

ORPHA:88639Заболевание
Autosomal recessive

Neurodegenerative syndrome due to cerebral folate transport deficiency

ORPHA:217382Заболевание
Autosomal recessive

Neurodevelopmental delay-hypotonia-cerebellar ataxia-cardiac conduction defects syndrome

ORPHA:641361Заболевание
Autosomal recessive

Neurodevelopmental delay-intellectual disability-ataxia-feeding difficulty syndrome

ORPHA:647788Заболевание

Neuroendocrine cell hyperplasia of infancy

ORPHA:217560Заболевание
Not applicable

Neuroendocrine neoplasm of appendix

ORPHA:100079Заболевание

Neuroendocrine tumor of anal canal

ORPHA:100082Заболевание

Neuroendocrine tumor of stomach

ORPHA:100075Заболевание
Not applicable

Neuroendocrine tumor of the colon

ORPHA:100080Заболевание