Hearing Loss Disease Portal


 
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Disease Browser
Parent Node:
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Nervous System Malformations (D009421)
Parent Node:
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Pathological Conditions, Anatomical (D020763)
..Starting node
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Agenesis of Corpus Callosum (D061085)

       Child Nodes:
........expandAbsent corpus callosum cataract immunodeficiency (C535566)
........expandAcrocallosal Syndrome (D055673) Child1
........expandAicardi Syndrome (D058540) Child1
........expandBen Ari Shuper Mimouni syndrome (C535427)
........expandCalloso-genital dysplasia (C537962)
........expandCAMFAK syndrome (C537965)
........expandChudley-Mccullough syndrome (C535459)
........expandCombined Oxidative Phosphorylation Deficiency 2 (C566468)
........expandCorpus callosum agenesis neuronopathy (C536446)
........expandCorpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence (C563127)
........expandCorpus Callosum, Agenesis of, with Mental Retardation, Ocular Coloboma, and Micrognathia (C564509)
........expandCorpus Callosum, Partial Agenesis of, X-Linked (C564115)
........expandCuratolo Cilio Pessagno syndrome (C536701)
........expandDonnai-Barrow syndrome (C536390)
........expandDuker Weiss Siber syndrome (C535719)
........expandEctodermal Dysplasia, Hypohidrotic, with Hypothyroidism and Agenesis of the Corpus Callosum (C565605)
........expandFaye-Petersen Ward Carey syndrome (C537076)
........expandHoloprosencephaly (D016142) Child22
........expandKozlowski Ouvrier syndrome (C537508)
........expandLissencephaly and agenesis of corpus callosum (C531731)
........expandMedian cleft lip, corpus callosum, lipoma, and skin polyps (C536135)
........expandMicrocephaly, corpus callosum dysgenesis and cleft lip-palate (C537547)
........expandNakamura Osame syndrome (C538335)
........expandOpitz-Kaveggia syndrome (C537923)
........expandOsteochondrodysplasia, Rhizomelic, with Callosal Agenesis, Thrombocytopenia, Hydrocephalus, and Hypertension (C563478)
........expandPartial agenesis of corpus callosum (C536111)
........expandProud Syndrome (C563110)
........expandRecurrent spontaneous hypothermia with hypoplasia of the corpus callosum (C559045)
........expandSaal Bulas syndrome (C537193)
........expandSakoda Complex (C567055)
........expandShapiro syndrome (C537594)
........expandShort Stature, Mental Retardation, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, And Atypical Clefting (C566989)
........expandStargardt Macular Degeneration Absent or Hypoplastic Corpus Callosum Mental Retardation and Dysmorphic Features (C548086)
........expandTemtamy syndrome (C536959)
........expandThrombocytopenia Robin sequence (C536898)



 Sister Nodes: 
..expandAccessory Atrioventricular Bundle (D058606)
..expandAgenesis of Corpus Callosum (D061085) Child59
..expandAirway Remodeling (D056151)
..expandAlopecia (D000505) Child61
..expandAtrial Remodeling (D064752)
..expandAtrophy (D001284) Child18
..expandBlister (D001768) Child3
..expandCalculi (D002137) Child15
..expandChoristoma (D002828) Child2
..expandConstriction, Pathologic (D003251) Child9
..expandCysts (D003560) Child78
..expandDilatation, Pathologic (D004108)
..expandDiverticulum (D004240) Child7
..expandFacial Asymmetry (D005146) Child8
..expandFistula (D005402) Child34
..expandHernia (D006547) Child73
..expandHypertrophy (D006984) Child62
..expandLeg Length Inequality (D007870)
..expandLeukoplakia (D007971) Child2
..expandNails, Malformed (D009264) Child44
..expandPlaque, Amyloid (D058225) Child1
..expandPlaque, Atherosclerotic (D058226)
..expandPolyps (D011127) Child7
..expandProlapse (D011391) Child5
..expandRupture, Spontaneous (D012422) Child1
..expandTorsion Abnormality (D014102) Child13
..expandVascular Remodeling (D066253)
..expandVentricular Remodeling (D020257)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:359
Name:Agenesis of Corpus Callosum
Definition:Birth defect that results in a partial or complete absence of the CORPUS CALLOSUM. It may be isolated or a part of a syndrome (e.g., AICARDI'S SYNDROME; ACROCALLOSAL SYNDROME; ANDERMANN SYNDROME; and HOLOPROSENCEPHALY). Clinical manifestations include neuromotor skill impairment and INTELLECTUAL DISABILITY of variable severity.
Alternative IDs:
ParentIDs:MESH:D009421|MESH:D020763
TreeNumbers:C10.500.034 |C16.131.666.034 |C23.300.008
Synonyms:Absence of Corpus Callosum |Ageneses, Corpus Callosum |Agenesis, Corpus Callosum |Corpus Callosum Absence |Corpus Callosum Absences |Corpus Callosum Ageneses |Corpus Callosum Agenesis |Corpus Callosum, Agenesis Of |Corpus Callosum Dysgeneses |Corpus Callosum Dysg
Slim Mappings:Congenital abnormality|Nervous system disease|Pathology (anatomical condition)
Reference: MedGen: D061085
MeSH: D061085
OMIM:

Genes:
Phenotypes
Disease Causing ClinVar Variants