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:
expandcongenital nervous system disorder (MONDO:0002320)
..Starting node
..expandanencephaly ()

       Child Nodes:
........expandhydranencephaly (disease) ()
........expandisolated anencephaly/exencephaly ()



 Sister 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 ()
   

MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:819
Name:anencephaly
Definition:A rare neural tube defect during pregnancy, resulting in the absence of a large portion of the brain and skull in the fetus.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:anencephalus
Slim Mappings:
Reference: MedGen:
MeSH:
OMIM:
MSeqDR LSDB:  
Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal