TELO2-related intellectual disability-neurodevelopmental disorder
http://purl.obolibrary.org/obo/MONDO_0014848
Term info
database cross reference
- Orphanet:488642 (MONDO:equivalentTo)
- OMIM:616954 (Orphanet:488642)
- EFO:0009061 (MONDO:equivalentTo)
- UMLS:C4310778 (MONDO:ncbi_mim2gene_medline)
Subsets
ordo_malformation_syndrome
IAO 0000233
https://github.com/monarch-initiative/mondo/issues/5588
exactMatch
https://omim.org/entry/616954, http://purl.obolibrary.org/obo/Orphanet_488642, http://linkedlifedata.com/resource/umls/id/C4310778
excluded subClassOf
http://purl.obolibrary.org/obo/MONDO_0005328, 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
has exact synonym
you-Hoover-Fong syndrome
has related synonym
YHFS
id
MONDO:0014848
Term relations
Subclass of:
- central nervous system malformation
- congenital nervous system disorder
- partial monosomy of the long arm of chromosome 9
- patellar dysostosis
- multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
- congenital limb malformation
- multiple congenital anomalies/dysmorphic syndrome-intellectual disability
- neuro-ophthalmological disease
- disease has major feature some central nervous system malformation