Description |
OMIM Number |
ALEXANDER DISEASE |
203450 |
ALPERS DIFFUSE DEGENERATION OF CEREBRAL GRAY MATTER WITH HEPATIC CIRRHOSIS |
203700 |
ALZHEIMER DISEASE; AD |
104300 |
AMYOTROPHIC LATERAL SCLEROSIS 1; ALS1 |
105400 |
BASAL GANGLIA CALCIFICATION IDIOPATHIC 1; IBGC1 |
213600 |
CANAVAN DISEASE |
271900 |
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1; CADASIL1 |
125310 |
CEROID LIPOFUSCINOSIS, NEURONAL 1, INFANTILE; CLN1 |
256730 |
CEROID LIPOFUSCINOSIS, NEURONAL 2, LATE INFANTILE TYPE; CLN2 |
204500 |
CEROID LIPOFUSCINOSIS, NEURONAL 3, JUVENILE; CLN3 |
204200 |
CHARCOT-MARIE-TOOTH DISEASE DEMYELINATING TYPE 1A; CMT1A |
118220 |
CHARCOT-MARIE-TOOTH DISEASE 1B; CMT1B |
118200 |
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D; CMT2D |
601472 |
CHARCOT-MARIE-TOOTH PERONEAL MUSCULAR ATROPHY, X-LINKED; CMTX1 |
302800 |
DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY; DRPLA |
125370 |
EPILEPSY, GENERALIZED, IDIOPATHIC; EGI |
600669 |
EPILEPTIC ENCEPHALOPATHY LENNOX-GASTAUT TYPE |
606369 |
FETAL AKINESIA DEFORMATION SEQUENCE; FADS |
208150 |
FRIEDREICH ATAXIA 1; FRDA |
229300 |
GILLES DE LA TOURETTE SYNDROME; GTS |
137580 |
HUNTINGTON DISEASE; HD |
143100 |
LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER; VWM (OVARIOLEUKODYSTROPHY, INCLUDED |
603896 |
MACHADO-JOSEPH DISEASE; MJD |
109150 |
MAJOR AFFECTIVE DISORDER 1; MAFD1 |
125480 |
MAJOR AFFECTIVE DISORDER 2; MAFD2 |
309200 |
MASA SYNDROME |
303350 |
MILLER-DIEKER LISSENCEPHALY SYNDROME; MDLS |
247200 |
MOLYBDENUM COFACTOR DEFICIENCY |
252150 |
MULTIPLE SCLEROSIS SUSCEPTIBILITY TO; MS |
126200 |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES) TYPE A 1; MDDGA1 |
236670 |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES) TYPE A 4; MDDGA4 |
253800 |
MYOCLONIC EPILEPSY NEONATAL WITH SUPPRESSION-BURST PATTERN |
609304 |
MYOCLONIC EPILEPSY OF LAFORA |
254780 |
MYOCLONIC EPILEPSY, JUVENILE; EJM1 |
254770 |
MYOCLONUS EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS; MERFF |
545000 |
NEURAL TUBE DEFECTS |
182940 |
NEUROAXONAL DYSTROPHY, INFANTILE |
256600 |
NEUROBLASTOMA; NB NEUROBLASTOMA SUPPRESSOR, INCLUDED; NBS, INCLUDED |
256700 |
NEUROPATHY, CONGENITAL SENSORY, WITH ANHIDROSIS |
256800 |
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; HSAN3 |
223900 |
PANTOTHENATE KINASE-ASSOCIATED NEURODEGENERATION; PKAN; HALLERVORDEN-SPATZ DISEASE INCLUDED |
234200 |
PARKINSON DISEASE FAMILIAL TYPE 1; PARK1 |
168601 |
PARKINSON DISEASE 1 |
168600 |
PELIZAEUS-MERZBACHER DISEASE; PMD |
312080 |
RETT SYNDROME; RTT |
312750 |
RETT SYNDROME, CONGENITAL VARIANT FORKHEAD BOX G1; FOXG1 |
613454 |
SCHIZOPHRENIA; SCZD |
181500 |
SMITH-MAGENIS SYNDROME; SMS |
182290 |
SOTOS SYNDROME |
117550 |
SPINOCEREBELLAR ATAXIA 1; SCA1 |
164400 |
SPINOCEREBELLAR ATAXIA 2; SCA2 |
183090 |
SPINOCEREBELLAR ATAXIA 7; SCA7 |
164500 |
SUPRANUCLEAR PALSY PROGRESSIVE 1; PSNP1 |
601104 |
TRIOSEPHOSPHATE ISOMERASE 1; TPI1 |
190450 |
VITAMIN E, FAMILIAL ISOLATED DEFICIENCY OF; VED |
277460 |