MEDLIB
Orphanet Database

Rare diseases

7,547 diseases with genetics, phenotypes, and epidemiology

7,547Diseases
4 552Genes
8 700Phenotypes

Neonatal erythroderma-autoinflammation-inflammatory bowel disease syndrome

ORPHA:294023Disease
Autosomal recessive

Neonatal glycine encephalopathy

ORPHA:289857Clin. sub.
Autosomal recessive

Neonatal hemochromatosis

ORPHA:446Disease
Autosomal recessive

Neonatal hypoxic and ischemic brain injury

ORPHA:137577Situation
Not applicable

Neonatal ichthyosis-sclerosing cholangitis syndrome

ORPHA:59303Disease
Autosomal recessive

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

Neovascular glaucoma

ORPHA:94058Situation
Not applicable

Nephroblastoma

ORPHA:654Disease
Autosomal dominant, Not applicable

Nephrogenic syndrome of inappropriate antidiuresis

ORPHA:93606Disease
X-linked recessive

Nephronophthisis

ORPHA:655Disease
Autosomal recessive

Nephropathy-deafness-hyperparathyroidism syndrome

ORPHA:2668Malform.
Autosomal recessive

Nephrosis-deafness-urinary tract-digital malformations syndrome

ORPHA:2669Malform.
Unknown

Nephrotic syndrome without extrarenal manifestations

ORPHA:567564Cat.

Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome

ORPHA:300333Disease
Autosomal recessive

Nestor-Guillermo progeria syndrome

ORPHA:280576Malform.
Autosomal recessive

Netherton syndrome

ORPHA:634Disease
Autosomal recessive

Neu-Laxova syndrome

ORPHA:2671Malform.
Autosomal recessive

Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency

ORPHA:583607Etio. sub.
Autosomal recessive