MEDLIB
Orphanet Database

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Болезней
4 552Генов
8 700Фенотипов

Neonatal erythroderma-autoinflammation-inflammatory bowel disease syndrome

ORPHA:294023Заболевание
Autosomal recessive

Neonatal glycine encephalopathy

ORPHA:289857Клин. подтип
Autosomal recessive

Neonatal hemochromatosis

ORPHA:446Заболевание
Autosomal recessive

Neonatal hypoxic and ischemic brain injury

ORPHA:137577Особая клин. ситуация
Not applicable

Neonatal ichthyosis-sclerosing cholangitis syndrome

ORPHA:59303Заболевание
Autosomal recessive

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

Neovascular glaucoma

ORPHA:94058Особая клин. ситуация
Not applicable

Nephroblastoma

ORPHA:654Заболевание
Autosomal dominant, Not applicable

Nephrogenic syndrome of inappropriate antidiuresis

ORPHA:93606Заболевание
X-linked recessive

Nephronophthisis

ORPHA:655Заболевание
Autosomal recessive

Nephropathy-deafness-hyperparathyroidism syndrome

ORPHA:2668Мальформация
Autosomal recessive

Nephrosis-deafness-urinary tract-digital malformations syndrome

ORPHA:2669Мальформация
Unknown

Nephrotic syndrome without extrarenal manifestations

ORPHA:567564Категория

Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome

ORPHA:300333Заболевание
Autosomal recessive

Nestor-Guillermo progeria syndrome

ORPHA:280576Мальформация
Autosomal recessive

Netherton syndrome

ORPHA:634Заболевание
Autosomal recessive

Neu-Laxova syndrome

ORPHA:2671Мальформация
Autosomal recessive

Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency

ORPHA:583607Этиол. подтип
Autosomal recessive