Rare Disease Library

Niemann-Pick disease type C, juvenile neurologic onset

Niemann-Pick disease type C, classic form

Niemann-Pick disease type C, late infantile neurologic onset

Niemann-Pick disease type C, severe early infantile neurologic onset

Niemann-Pick disease type C, severe perinatal form

Niemann-Pick disease type D

Niemann-Pick disease, Nova Scotia type

Night blindness-skeletal anomalies-dysmorphism syndrome

Hunter-Thompson-Reed syndrome

Nijmegen breakage syndrome

AT V1 · Ataxia-telangiectasia, variant 1

Nijmegen breakage syndrome-like disorder

Microcephaly and chromosomal instability without immunodeficiency · NBS-like disorder

NIK deficiency

Primary immunodeficiency with multifaceted aberrant lymphoid immunity

Nipah virus disease

Nipah fever · Nipah encephalitis

NK-cell enteropathy

NKAP-related intellectual disability-facial dysmorphism-marfanoid habitus-scoliosis syndrome

X-linked syndromic intellectual developmental disorder, Hackmann-Di Donato type

NKX6-2-related autosomal recessive hypomyelinating leukodystrophy

Autosomal recessive hypomyelinating leukodystrophy-progressive spastic ataxia · SPAX8

NLRP12-associated hereditary periodic fever syndrome

FCAS2 · Familial cold autoinflammatory syndrome type 2

NLRP3-associated autoinflammatory disease

CAPS · Cryopyrinopathy

NMDA receptor encephalitis

Limbic encephalitis with NMDA receptor antibodies · Limbic encephalitis with N-methyl-D-aspartate receptor antibodies

Nocardiosis

NOCARH syndrome

Neonatal-onset cytopenia-autoinflammation-rash episodes of hemophagocytic lymphohistiocytosis syndrome · Neonatal-onset cytopenia-autoinflammation-rash episodes of HLH syndrome

Nodal marginal zone B-cell lymphoma

NMZL

Nodal T-follicular helper cell lymphoma, follicular type

Nodal T-cell lymphoma with TFH phenotype · Follicular T-cell Lymphoma

Nodular cutaneous amyloidosis

PLCNA · Primary localized cutaneous nodular amyloidosis

Nodular fasciitis

Pseudosarcomatous fasciitis · Pseudosarcomatous fibromatosis

Nodular lichen myxedematosus

Atypical tuberous myxedema of Jadassohn-Dosseker

Nodular lymphocyte predominant Hodgkin lymphoma

NLPHL

Nodular neuronal heterotopia

Nodular non-suppurative panniculitis

Idiopathic lobular panniculitis · Idiopathic nodular panniculitis

Nodular regenerative hyperplasia of the liver

Non-cirrhotic nodulation

Nodular urticaria pigmentosa

Nodulosis-arthropathy-osteolysis syndrome

NAO syndrome

Noma

Cancrum oris

Non progressive epilepsy and/or ataxia with myoclonus as a major feature

Non-24-hour sleep-wake syndrome

Hypernychthemeral syndrome

Non-acquired combined pituitary hormone deficiencies without extrapituitary malformations

Non-acquired combined pituitary hormone deficiency

Congenital combined pituitary hormone deficiency · Congenital hypopituitarism

Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome

Non-acquired combined pituitary hormone deficiency-deafness-rigid cervical spine syndrome

Non-acquired isolated growth hormone deficiency

Congenital IGHD · Congenital isolated GH deficiency

Non-acquired panhypopituitarism

Genetic panhypopituitarism

Non-acquired pituitary hormone deficiency

Non-amyloid fibrillary glomerulopathy

Congo red-negative amyloidosis-like glomerulopathy · Non-amyloid fibrillary glomerulonephritis

Non-amyloid monoclonal immunoglobulin deposition disease

Non-amyloid MIDD · Randall disease

Non-central nervous system-localized embryonal carcinoma

Non-CNS-localized embryonal carcinoma

Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency

Non-distal deletion 10q syndrome

Non-distal monosomy 10q · Non-telomeric monosomy 10q

Non-distal deletion 12q syndrome

Non-distal monosomy 12q · Non-telomeric monosomy 12q

Non-distal duplication 10q syndrome

Non-distal trisomy 10q · Non-telomeric trisomy 10q

Non-distal duplication 13q syndrome

Non-distal trisomy 13q · Non-telomeric trisomy 13q

Non-distal duplication 9q syndrome

Non-distal trisomy 9q · Non-telomeric trisomy 9q

Non-dystrophic myopathy