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Ontology Browser
Term:
Parent Terms Term With Siblings Child Terms
Accessory Atrioventricular Bundle 
Agenesis of Corpus Callosum +   
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.
Aicardi-Goutieres syndrome +   
Airway Remodeling  
alopecia +   
Amyloid Plaques +   
Athabaskan brainstem dysgenesis syndrome  
Atrial Remodeling  
Atrophy +   
Blister +   
BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS  
brain compression  
Calculi +   
Central Nervous System Cysts +   
Central Nervous System Vascular Malformations +   
cerebellar hypoplasia +   
Cerebral Cortical Thinning 
Choristoma +   
chromosome 17p13.3 duplication syndrome  
complex cortical dysplasia with other brain malformations +   
Cysts +   
Dandy-Walker syndrome +   
developmental delay, dysmorphic facies, and brain anomalies  
Dilatation, Pathologic  
Diverticulum +   
Drachtman Weinblatt Sitarz Syndrome 
early onset progressive encephalopathy with brain atrophy and thin corpus callosum  
enterocele +   
Facial Asymmetry +   
Fistula +   
GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME  
HEART AND BRAIN MALFORMATION SYNDROME  
hereditary sensory neuropathy +   
Hypertrophy +   
Leg Length Inequality 
Leukoplakia +   
Malformed Nails +   
Median-Ulnar Nerve Communications 
microcephaly, growth deficiency, seizures, and brain malformations  
neural tube defect +   
Neurodevelopmental Disorder and Language Delay with or Without Structural Brain Abnormalities  
NEURODEVELOPMENTAL DISORDER AND STRUCTURAL BRAIN ANOMALIES WITH OR WITHOUT SEIZURES AND SPASTICITY  
Neurodevelopmental Disorder with Alopecia and Brain Abnormalities  
Neurodevelopmental Disorder with Epilepsy, Cataracts, Feeding Difficulties, and Delayed Brain Myelination  
NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS, SEIZURES, AND STRUCTURAL BRAIN ABNORMALITIES  
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CHARACTERISTIC BRAIN ABNORMALITIES  
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FEEDING DIFFICULTIES, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES  
neurodevelopmental disorder with midbrain and hindbrain malformations  
Neurodevelopmental Disorder with or without Autistic Features and/or Structural Brain Abnormalities  
Neurodevelopmental Disorder with Seizures and Brain Abnormalities  
NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES  
NFIA-related disorder  
omphalocele  
Pathologic Constriction +   
Plaque, Atherosclerotic  
Polyps +   
Prolapse +   
Schisis Association 
septooptic dysplasia +   
Spontaneous Perforation 
Spontaneous Rupture +   
syndromic microphthalmia 3  
syndromic microphthalmia 6  
Tertiary Lymphoid Structures 
Torsion Abnormality +   
Vascular Remodeling +   
Ventricular Remodeling  
 acrocallosal syndrome +   
 Agenesis of Corpus Callosum with Facial Anomalies and Robin Sequence 
 agenesis of corpus callosum, cardiac, ocular, and genital syndrome  
 agenesis of the corpus callosum with peripheral neuropathy  
 Aicardi syndrome  
 Ben Ari Shuper Mimouni Syndrome 
 Braddock Carey Syndrome +   
 Calloso-Genital Dysplasia 
 CAMFAK Syndrome 
 Chudley-Mccullough syndrome  
 combined oxidative phosphorylation deficiency 2  
 corpus callosum agenesis-abnormal genitalia syndrome  
 corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome  
 CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA  
 Curatolo Cilio Pessagno Syndrome 
 Donnai-Barrow syndrome  
 Duker Weiss Siber syndrome 
 Faye-Petersen Ward Carey Syndrome 
 FG syndrome +   
 GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES  
 hereditary spastic paraplegia 11  
 holoprosencephaly +   
 Hypohidrotic Ectodermal Dysplasia, with Hypothyroidism and Agenesis of the Corpus Callosum 
 Kozlowski Ouvrier Syndrome 
 Lissencephaly and Agenesis of Corpus Callosum  
 Median Cleft Lip, Corpus Callosum, Lipoma, and Skin Polyps 
 Microcephaly, Corpus Callosum Dysgenesis and Cleft Lip-Palate 
 neurodevelopmental disorder with dysmorphic facies and thin corpus callosum  
 NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM  
 NEURODEVELOPMENTAL DISORDER WITH SEIZURES, SPASTICITY, AND COMPLETE OR PARTIAL AGENESIS OF THE CORPUS CALLOSUM  
 Partial Agenesis of Corpus Callosum +   
 Recurrent Spontaneous Hypothermia with Hypoplasia of the Corpus Callosum 
 Rhizomelic Osteochondrodysplasia with Callosal Agenesis, Thrombocytopenia, Hydrocephalus, and Hypertension 
 Saal Bulas Syndrome 
 Sakoda Complex 
 Shapiro Syndrome 
 Short Stature, Impaired Intellectual Development, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, and Atypical Clefting 
 spastic tetraplegia, thin corpus callosum, and progressive microcephaly  
 Stargardt Macular Degeneration Absent or Hypoplastic Corpus Callosum Mental Retardation and Dysmorphic Features 
 Temtamy syndrome  
 Vici syndrome  

Synonyms
Exact Synonyms: Absence of Corpus Callosum ;   Corpus Callosum Absence ;   Corpus Callosum Ageneses ;   Corpus Callosum Agenesis ;   Corpus Callosum Dysgenesis ;   Corpus Callosum Hypogenesis ;   Corpus Callosum Malformation
Primary IDs: MESH:D061085
Alternate IDs: MIM:217990
Definition Sources: MESH:D061085

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