Diseases List
 
 
DiagnosisOmim NumberSample Count
N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY; NAGS DEFICIENCY2373101
NEMALINE MYOPATHY - TYPE UNKNOWN 1
NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE; NEM225603021
NEMALINE MYOPATHY 3; NEM316180013
NEMALINE MYOPATHY, AMISH TYPE; ANM6053556
NEPHROSIS 1, CONGENITAL, FINNISH TYPE; NPHS12563004
NEURAMINIDASE DEFICIENCY25655012
NEUROAXONAL DYSTROPHY, INFANTILE2566005
NEUROBLASTOMA; NB NEUROBLASTOMA SUPPRESSOR, INCLUDED; NBS, INCLUDED2567003
NEURODEGENERATIVE OVERLAP SYNDROME 3
NEUROFIBROMATOSIS, TYPE I; NF116220063
NEUROFIBROMATOSIS, TYPE II; NF21010008
NEURONAL INTRANUCLEAR INCLUSION DISEASE6034723
NEUROPATHY, CONGENITAL SENSORY, WITH ANHIDROSIS2568007
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; HSAN3223900101
NIEMANN-PICK DISEASE, TYPE A2572007
NIEMANN-PICK DISEASE, TYPE B6076163
NIEMANN-PICK DISEASE, TYPE C1; NPC125722055
NIEMANN-PICK DISEASE, TYPE C26076255
NIEMANN-PICK DISEASE: TYPE UNSPECIFIED 4
NIJMEGEN BREAKAGE SYNDROME25126026
NODAL RHYTHM16380013
NON DYSTONIA SYNDROME 11
NORRIE DISEASE; NDP - 3106003106003