severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome
Go to external page http://purl.obolibrary.org/obo/MONDO_0014787
Synonyms: CCAFCA corpus callosum, agenesis of, with Facial anomalies and cerebellar ataxia
This is just here as a test because I lose it
Term information
database
cross reference
- Orphanet:466688 (MONDO:equivalentTo)
- OMIM:616819 (Orphanet:466688)
- UMLS:C4225193 (MONDO:equivalentTo)
- MEDGEN:902346 (MONDO:equivalentTo)
- GARD:17824 (MONDO:GARD)
Subsets
ordo_disorder, gard_rare, rare, ordo_malformation_syndrome, nord_rare, orphanet_rare
exactMatch
http://identifiers.org/medgen/902346
https://omim.org/entry/616819
http://linkedlifedata.com/resource/umls/id/C4225193
http://www.orpha.net/ORDO/Orphanet_466688
has related synonym
Birk-Flusser syndrome
corpus callosum, agenesis OF, with FACIAL anomalies and cerebellar ataxia
Term relations
Subclass of:
- hereditary neurological disease
- central nervous system malformation
- congenital nervous system disorder
- multiple congenital anomalies/dysmorphic syndrome-intellectual disability
- disease has major feature some central nervous system malformation
- has material basis in germline mutation in some FRMD4A