Rare Disease Library

Necrobiosis lipoidica

Oppenheim-Urbach disease

Necrobiotic xanthogranuloma

Necrotizing cellulitis

Necrotizing enterocolitis

Necrotizing fasciitis

Necrotizing myositis

Necrotizing soft tissue infection

NSTI

NEK9-related lethal skeletal dysplasia

Lethal skeletal dysplasia-fetal akinesia-contractures-thoracic dysplasia-pulmonary hypoplasia syndrome

Nelson syndrome

Nemaline myopathy

NEM · NM

NEMO deleted exon 5 autoinflammatory syndrome

NDAS · NEMO-NDAS

Neonatal acute respiratory distress syndrome

Neonatal RDS · Hyaline membrane disease

Neonatal alloimmune neutropenia

Neonatal antiphospholipid syndrome

Neonatal Hughes syndrome · Neonatal antiphospholipid antibody syndrome

Neonatal autoimmune hemolytic anemia

Neonatal AHA · Neonatal AIHA

Neonatal brainstem dysfunction

Neonatal compartment syndrome

Neonatal Volkmann ischemic contracture syndrome · Congenital Volkmann ischemic contracture syndrome

Neonatal dermatomyositis

Neonatal DM

Neonatal diabetes mellitus

NDM · Congenital diabetes mellitus

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

Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome

COQ4-related neonatal encephalomyopathy

Neonatal epileptic encephalopathy due to glutaminase deficiency

Neonatal erythroderma-autoinflammation-inflammatory bowel disease syndrome

Neonatal glycine encephalopathy

Classic glycine encephalopathy · Neonatal NKH

Neonatal hemochromatosis

Neonatal hypoxic and ischemic brain injury

HIE · Hypoxic and ischemic brain injury in the newborn

Neonatal ichthyosis-sclerosing cholangitis syndrome

Ichthyosis-hypotrichosis-sclerosing cholangitis syndrome · IHSC

Neonatal intrahepatic cholestasis due to citrin deficiency

NICCD · Neonatal intrahepatic cholestasis caused by citrin deficiency

Neonatal iodine exposure

Neonatal lupus erythematosus

Neonatal Marfan syndrome

Neonatal MFS

Neonatal neutropenia

Neonatal osteosclerotic dysplasia

Neonatal renal venous thrombosis

Neonatal RVT · NRVT

Neonatal scleroderma

Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect

COXPD28 · Combined oxidative phosphorylation defect type 28

Neonatal severe primary hyperparathyroidism

NSHPT

Neonatal-infantile onset epilepsy syndrome

Neovascular glaucoma

Nephroblastoma

Renal embryonic tumor · Wilms tumor

Nephrogenic syndrome of inappropriate antidiuresis

NSIAD

Nephrogenic systemic fibrosis

Nephrogenic fibrosing dermopathy

Nephronophthisis

Nephropathy secondary to a storage or other metabolic disease

Nephropathy-deafness-hyperparathyroidism syndrome

Edwards-Patton-Dilly syndrome · Nephropathy-hearing loss-hyperparathyroidism syndrome

Nephrosis-deafness-urinary tract-digital malformations syndrome

Braun-Bayer syndrome · Nephrosis-hearing loss-urinary tract-digital malformations syndrome

Nephrotic syndrome without extrarenal manifestations

Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome

Epidermolysis bullosa simplex with nephropathy · Nephrotic syndrome-hearing loss-epidermolysis bullosa syndrome