MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO
Disease Browser
Parent Node:
expandnervous system disorder (MONDO:0005071)
..Starting node
..expandcongenital nervous system disorder ()

       Child Nodes:
........expandacrofacial dysostosis Rodriguez type ()
........expandacrofacial dysostosis, Catania type ()
........expandadult-onset autosomal dominant demyelinating leukodystrophy ()
........expandagnathia-otocephaly complex ()
........expandalopecia - contractures - dwarfism - intellectual disability syndrome ()
........expandalpha thalassemia-intellectual disability syndrome type 1 ()
........expandanencephaly ()
........expandaniridia-cerebellar ataxia-intellectual disability syndrome ()
........expandaniridia-renal agenesis-psychomotor retardation syndrome ()
........expandaortic arch anomaly-facial dysmorphism-intellectual disability syndrome ()
........expandaspartylglucosaminuria ()
........expandatelosteogenesis type III ()
........expandautosomal dominant optic atrophy, classic form ()  LSDB  L: 00073;
........expandBannayan-Riley-Ruvalcaba syndrome ()
........expandBiemond syndrome type 2 ()
........expandblepharonasofacial malformation syndrome ()
........expandBranchioskeletogenital syndrome ()
........expandc syndrome ()
........expandcataract-hypertrichosis-intellectual disability syndrome ()
........expandcerebral cavernous malformation ()
........expandCharcot-Marie-Tooth disease type 1A ()
........expandcoloboma of macula ()
........expandcongenital contractural arachnodactyly ()
........expandcongenital diaphragmatic hernia ()
........expandcongenital granular cell tumor ()
........expandcongenital nystagmus ()
........expandcongenital toxoplasmosis ()
........expandCyprus facial-neuromusculoskeletal syndrome ()
........expandCzeizel-Losonci syndrome ()
........expanddelayed speech-facial asymmetry-strabismus-ear lobe creases syndrome ()
........expandfloating-Harbor syndrome ()
........expandfreeman-Sheldon syndrome ()
........expandGMS syndrome ()
........expandhereditary neurocutaneous malformation ()
........expandhereditary neuropathy with liability to pressure palsies ()
........expandhirsutism-skeletal dysplasia-intellectual disability syndrome ()
........expandholoprosencephaly-radial heart renal anomalies syndrome ()
........expandJohnson neuroectodermal syndrome ()
........expandKBG syndrome ()
........expandlaryngeal abductor paralysis ()
........expandLenz-Majewski hyperostotic dwarfism ()
........expandlinear nevus sebaceus syndrome ()
........expandmeningocele (disease) ()
........expandmicrocephaly (disease) ()
........expandmucopolysaccharidosis type 1 ()
........expandMyhre syndrome ()
........expandneurofibromatosis type 3 ()
........expandnevoid basal cell carcinoma syndrome ()
........expandomphalocele syndrome, Shprintzen-Goldberg type ()
........expandophthalmoplegia-intellectual disability-lingua scrotalis syndrome ()
........expandoptic atrophy 3 ()
........expandorofaciodigital syndrome V ()
........expandorofaciodigital syndrome X ()
........expandprenatal-onset spinal muscular atrophy with congenital bone fractures ()
........expandProteus syndrome ()
........expandpseudoprogeria syndrome ()
........expandRuvalcaba syndrome ()
........expandShprintzen-Goldberg syndrome ()
........expandSmith-Magenis syndrome ()
........expandStimmler syndrome ()
........expandSturge-Weber syndrome ()
........expandtrichorhinophalangeal syndrome type II ()
........expanduveal coloboma-cleft lip and palate-intellectual disability ()
........expandvon Hippel-Lindau disease ()
........expandWilliams syndrome ()
........expandZimmermann-Laband syndrome ()



 Sister Nodes: 
..expandautoimmune disease of the nervous system ()
..expandBalint syndrome ()
..expandBarre-Lieou syndrome ()
..expandcentral nervous system disease ()
..expandcerebral disease with cataract ()
..expandcomplex neurodevelopmental disorder ()
..expandcongenital nervous system disorder ()
..expandcranial nerve neuropathy ()
..expanddevelopmental disability ()
..expanddiplegia of upper limb ()
..expanddrug-induced akathisia ()
..expanddrug-induced dyskinesia ()
..expandgenetic nervous system disorder ()
..expandGerstmann syndrome ()
..expandidiopathic recurrent stupor ()
..expandinfectious disease of the nervous system ()
..expandinherited nervous system cancer-predisposing syndrome ()
..expandlocked-in syndrome ()
..expandmovement disorder ()
..expandneonatal brainstem dysfunction ()
..expandnervous system injury ()
..expandnervous system neoplasm ()
..expandneurocutaneous syndrome ()
..expandneuroendocrine disease ()
..expandneuronitis ()
..expandneurosarcoidosis ()
..expandneurovascular disease ()
..expandpalsy ()
..expandparaneoplastic neurologic syndrome ()
..expandperceptual disorders ()
..expandperineural cyst ()
..expandperipheral nervous system disease ()
..expandpersistent idiopathic facial pain ()
..expandprimary orthostatic hypotension ()
..expandradiculitis ()
..expandrare disease with malignant hyperthermia ()
..expandrare neuroinflammatory or neuroimmunological disease ()
..expandrare neurologic disease with psychiatric involvement ()
..expandrestless legs syndrome ()
..expandretinal disease ()
..expandsensory ganglionopathy ()
..expandsleep-wake disorder ()
..expandspecific learning disability ()
..expandspontaneous periodic hypothermia ()
..expandsymmetrical thalamic calcifications ()
..expandtoxic encephalopathy ()
..expandWallerian degeneration ()
..expandWorster-Drought syndrome ()
   

MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:2320
Name:congenital nervous system disorder
Definition:An abnormality of the nervous system that is present at birth or detected in the neonatal period.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:congenital abnormality of the nervous system; congenital nervous system disorder; congenital neurologic anomaly
Slim Mappings:
Reference: MedGen:
MeSH:
OMIM:
MSeqDR LSDB:  
Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal