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

Narcolepsy type 1

ORPHA:2073Disease
Unknown

Narcolepsy type 2

ORPHA:83465Disease
Unknown

Nasal ganglioglioma

ORPHA:141115Disease

Nasal glial heterotopia

ORPHA:141112Disease
Not applicable

Nasopharyngeal carcinoma

ORPHA:150Disease
Multigenic/multifactorial, Not applicable

Navajo neurohepatopathy

ORPHA:255229Disease
Autosomal recessive

Naxos disease

ORPHA:34217Disease
Autosomal recessive

Necrobiosis lipoidica

ORPHA:542592Disease

Necrobiotic xanthogranuloma

ORPHA:158011Disease
Not applicable

Necrotizing enterocolitis

ORPHA:391673Disease
Not applicable

Necrotizing soft tissue infection

ORPHA:440368Disease
Not applicable

Neonatal Marfan syndrome

ORPHA:284979Disease
Autosomal dominant

Neonatal acute respiratory distress syndrome

ORPHA:217563Disease
Autosomal recessive

Neonatal adrenoleukodystrophy

ORPHA:44Disease
Autosomal recessive

Neonatal alloimmune neutropenia

ORPHA:464370Disease

Neonatal antiphospholipid syndrome

ORPHA:398097Disease

Neonatal autoimmune hemolytic anemia

ORPHA:398109Disease

Neonatal dermatomyositis

ORPHA:398117Disease

Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome

ORPHA:79118Disease
Autosomal recessive

Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome

ORPHA:457185Disease
Autosomal recessive

Neonatal epileptic encephalopathy due to glutaminase deficiency

ORPHA:557064Disease
Autosomal recessive

Neonatal erythroderma-autoinflammation-inflammatory bowel disease syndrome

ORPHA:294023Disease
Autosomal recessive

Neonatal hemochromatosis

ORPHA:446Disease
Autosomal recessive

Neonatal ichthyosis-sclerosing cholangitis syndrome

ORPHA:59303Disease
Autosomal recessive