MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

7,547Erkrankungen
4 552Gene
8 700Phänotypen
3,968 Erkrankungen gefunden (Kr.) Zurücksetzen

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

Nephroblastoma

ORPHA:654Kr.
Autosomal dominant, Not applicable

Nephrogenic syndrome of inappropriate antidiuresis

ORPHA:93606Kr.
X-linked recessive

Nephronophthisis

ORPHA:655Kr.
Autosomal recessive

Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome

ORPHA:300333Kr.
Autosomal recessive

Netherton syndrome

ORPHA:634Kr.
Autosomal recessive

Neuralgic amyotrophy

ORPHA:2901Kr.
Autosomal dominant, Not applicable

Neuroblastoma

ORPHA:635Kr.
Not applicable

Neurocutaneous melanocytosis

ORPHA:2481Kr.
Not applicable

Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency

ORPHA:88639Kr.
Autosomal recessive

Neurodegenerative syndrome due to cerebral folate transport deficiency

ORPHA:217382Kr.
Autosomal recessive

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

ORPHA:641361Kr.
Autosomal recessive

Neurodevelopmental delay-intellectual disability-ataxia-feeding difficulty syndrome

ORPHA:647788Kr.

Neuroendocrine cell hyperplasia of infancy

ORPHA:217560Kr.
Not applicable

Neuroendocrine neoplasm of appendix

ORPHA:100079Kr.

Neuroendocrine tumor of anal canal

ORPHA:100082Kr.

Neuroendocrine tumor of stomach

ORPHA:100075Kr.
Not applicable

Neuroendocrine tumor of the colon

ORPHA:100080Kr.