MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

7,547Erkrankungen
4,552Gene
8,700Phänotypen

Neonatal erythroderma-autoinflammation-inflammatory bowel disease syndrome

ORPHA:294023Kr.
Autosomal recessive

Neonatal glycine encephalopathy

ORPHA:289857Kl. subt.
Autosomal recessive

Neonatal hemochromatosis

ORPHA:446Kr.
Autosomal recessive

Neonatal hypoxic and ischemic brain injury

ORPHA:137577spez. Sit.
Not applicable

Neonatal ichthyosis-sclerosing cholangitis syndrome

ORPHA:59303Kr.
Autosomal recessive

Neonatal intrahepatic cholestasis due to citrin deficiency

ORPHA:247598Kr.
Autosomal recessive

Neonatal iodine exposure

ORPHA:238688Kr.
Not applicable

Neonatal lupus erythematosus

ORPHA:398124Kr.
Not applicable

Neonatal renal venous thrombosis

ORPHA:664912Kr.

Neonatal scleroderma

ORPHA:398127Kr.

Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect

ORPHA:466784Kr.
Autosomal recessive

Neonatal severe primary hyperparathyroidism

ORPHA:417Kr.
Autosomal recessive, Not applicable

Neovascular glaucoma

ORPHA:94058spez. Sit.
Not applicable

Nephroblastoma

ORPHA:654Kr.
Autosomal dominant, Not applicable

Nephrogenic syndrome of inappropriate antidiuresis

ORPHA:93606Kr.
X-linked recessive

Nephronophthisis

ORPHA:655Kr.
Autosomal recessive

Nephropathy-deafness-hyperparathyroidism syndrome

ORPHA:2668Malf.
Autosomal recessive

Nephrosis-deafness-urinary tract-digital malformations syndrome

ORPHA:2669Malf.
Unknown

Nephrotic syndrome without extrarenal manifestations

ORPHA:567564Kat.

Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome

ORPHA:300333Kr.
Autosomal recessive

Nestor-Guillermo progeria syndrome

ORPHA:280576Malf.
Autosomal recessive

Netherton syndrome

ORPHA:634Kr.
Autosomal recessive

Neu-Laxova syndrome

ORPHA:2671Malf.
Autosomal recessive

Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency

ORPHA:583607Ätl. subt.
Autosomal recessive