MEDLIB
Orphanet Database

Rare diseases

7,547 diseases with genetics, phenotypes, and epidemiology

7,547Diseases
4 552Genes
8 700Phenotypes
3,968 diseases matched (Disease) Reset

Neonatal intrahepatic cholestasis due to citrin deficiency

ORPHA:247598Disease
Autosomal recessive

Neonatal iodine exposure

ORPHA:238688Disease
Not applicable

Neonatal lupus erythematosus

ORPHA:398124Disease
Not applicable

Neonatal renal venous thrombosis

ORPHA:664912Disease

Neonatal scleroderma

ORPHA:398127Disease

Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect

ORPHA:466784Disease
Autosomal recessive

Neonatal severe primary hyperparathyroidism

ORPHA:417Disease
Autosomal recessive, Not applicable

Nephroblastoma

ORPHA:654Disease
Autosomal dominant, Not applicable

Nephrogenic syndrome of inappropriate antidiuresis

ORPHA:93606Disease
X-linked recessive

Nephronophthisis

ORPHA:655Disease
Autosomal recessive

Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome

ORPHA:300333Disease
Autosomal recessive

Netherton syndrome

ORPHA:634Disease
Autosomal recessive

Neuralgic amyotrophy

ORPHA:2901Disease
Autosomal dominant, Not applicable

Neuroblastoma

ORPHA:635Disease
Not applicable

Neurocutaneous melanocytosis

ORPHA:2481Disease
Not applicable

Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency

ORPHA:88639Disease
Autosomal recessive

Neurodegenerative syndrome due to cerebral folate transport deficiency

ORPHA:217382Disease
Autosomal recessive

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

ORPHA:641361Disease
Autosomal recessive

Neurodevelopmental delay-intellectual disability-ataxia-feeding difficulty syndrome

ORPHA:647788Disease

Neuroendocrine cell hyperplasia of infancy

ORPHA:217560Disease
Not applicable

Neuroendocrine neoplasm of appendix

ORPHA:100079Disease

Neuroendocrine tumor of anal canal

ORPHA:100082Disease

Neuroendocrine tumor of stomach

ORPHA:100075Disease
Not applicable

Neuroendocrine tumor of the colon

ORPHA:100080Disease