TELO2-related intellectual disability-neurodevelopmental disorder
Go to external page http://purl.obolibrary.org/obo/MONDO_0014848
Synonyms: you-Hoover-Fong syndrome
This is just here as a test because I lose it
Term information
database
cross reference
- MEDGEN:934745 (MONDO:equivalentTo)
- OMIM:616954 (Orphanet:488642)
- Orphanet:488642 (MONDO:equivalentTo)
- UMLS:C4310778 (MONDO:equivalentTo)
- GARD:17898 (MONDO:GARD)
Subsets
ordo_disorder, gard_rare, rare, ordo_malformation_syndrome, nord_rare, orphanet_rare, clingen
exactMatch
https://omim.org/entry/616954
http://www.orpha.net/ORDO/Orphanet_488642
http://identifiers.org/medgen/934745
http://linkedlifedata.com/resource/umls/id/C4310778
excluded subClassOf
http://purl.obolibrary.org/obo/MONDO_0005328
http://purl.obolibrary.org/obo/MONDO_0015368
http://purl.obolibrary.org/obo/MONDO_0015620
http://purl.obolibrary.org/obo/MONDO_0005027
http://purl.obolibrary.org/obo/MONDO_0020215
http://purl.obolibrary.org/obo/MONDO_0000508
http://purl.obolibrary.org/obo/MONDO_0020240
Term relations
Subclass of:
- hereditary neurological disease
- central nervous system malformation
- congenital nervous system disorder
- partial monosomy of the long arm of chromosome 9
- multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
- congenital limb malformation
- multiple congenital anomalies/dysmorphic syndrome-intellectual disability
- disease has major feature some central nervous system malformation
- has material basis in germline mutation in some TELO2