Hearing Loss Disease Portal


 
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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
Parent Node:
expandHernia (D006547)
Parent Node:
expandNeural Tube Defects (D009436)
..Starting node
..expandEncephalocele (D004677)

       Child Nodes:
........expandCerebellar Vermis Aplasia with Associated Features suggesting Smith-Lemli-Opitz Syndrome and Meckel Syndrome (C565867)
........expandCerebrorenodigital Syndrome with Limb Malformations and Triradiate Acetabula (C563731)
........expandDandy-Walker Malformation With Occipital Cephalocele, Autosomal Dominant (C567185)
........expandDK Phocomelia Syndrome (C565618)
........expandFronto-facio-nasal dysplasia (C538063)
........expandKnobloch syndrome (C537209)
........expandKnobloch Syndrome Type II (C548030)
........expandKnobloch Syndrome Type III (C548031)
........expandLaryngeal Atresia, Encephalocele, and Limb Deformities (C564620)
........expandMeckel syndrome type 1 (C536133)
........expandMeckel syndrome type 2 (C536131)
........expandMeckel syndrome type 3 (C536132)
........expandMeckel Syndrome, Type 4 (C567003)
........expandMeckel Syndrome, Type 5 (C566915)
........expandMeckel Syndrome, Type 6 (C567365)
........expandMeckel-Like Cerebrorenodigital Syndrome (C567004)
........expandParietal Foramina (C566826)
........expandParietal Foramina 1 (C566827)
........expandParietal Foramina 2 (C566510)
........expandParietal Foramina 3 (C563697)
........expandParietal Foramina With Cleidocranial Dysplasia (C566825)
........expandPodder-Tolmie syndrome (C537518)
........expandSakoda Complex (C567055)
........expandZechi-Ceide Syndrome (C567865)



 Sister Nodes: 
..expandAcalvaria (C535570)
..expandAnencephaly (D000757) Child4
..expandArnold-Chiari Malformation (D001139) Child1
..expandCraniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation (C564271)
..expandEncephalocele (D004677) Child24
..expandMeningocele (D008588) Child5
..expandMeningomyelocele (D008591) Child3
..expandMidline Defects, X-Linked (C564054)
..expandNeural tube defects X-linked (C536410)
..expandPentalogy of Cantrell (D058502)
..expandSpinal Dysraphism (D016135) Child10
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:3729
Name:Encephalocele
Definition:Brain tissue herniation through a congenital or acquired defect in the skull. The majority of congenital encephaloceles occur in the occipital or frontal regions. Clinical features include a protuberant mass that may be pulsatile. The quantity and location of protruding neural tissue determines the type and degree of neurologic deficit. Visual defects, psychomotor developmental delay, and persistent motor deficits frequently occur.
Alternative IDs:
ParentIDs:MESH:D006547|MESH:D009436
TreeNumbers:C10.500.680.488 |C16.131.666.680.488 |C23.300.707.186
Synonyms:Acquired Encephalocele |Acquired Encephaloceles |Bifid Cranium |Bifid Craniums |Bifidum, Cranium |Bifidums, Cranium |Cephalocele |Cephaloceles |Cerebellar Hernia |Cerebellar Hernias |Cerebellar Herniation |Cerebellar Herniations |Cerebral Hernia |Cerebral Hernias |Cra
Slim Mappings:Congenital abnormality|Nervous system disease|Pathology (anatomical condition)
Reference: MedGen: D004677
MeSH: D004677
OMIM:

Genes:
Phenotypes
Disease Causing ClinVar Variants