distal monosomy 1q
http://purl.obolibrary.org/obo/MONDO_0018205
1qter deletion syndrome is a chromosomal anomaly characterized by an intellectual deficiency, progressive microcephaly, seizures, growth delay, distinct facial dysmorphic features and various midline defects including cardiac, corpus callosum, gastro-oesophalgeal and urogenital anomalies. [ Orphanet:36367 ]
Term info
- Orphanet:36367 (MONDO:equivalentTo)
- UMLS:C4273897 (MONDO:equivalentTo)
- SCTID:717633007 (MONDO:equivalentTo)
ordo_malformation_syndrome
https://github.com/monarch-initiative/mondo/issues/3664, https://github.com/monarch-initiative/mondo/issues/5588
1qter deletion syndrome is a chromosomal anomaly characterized by an intellectual deficiency, progressive microcephaly, seizures, growth delay, distinct facial dysmorphic features and various midline defects including cardiac, corpus callosum, gastro-oesophalgeal and urogenital anomalies.
http://purl.obolibrary.org/obo/Orphanet_36367, http://linkedlifedata.com/resource/umls/id/C4273897, http://identifiers.org/snomedct/717633007
http://purl.obolibrary.org/obo/MONDO_0000508
distal deletion 1q, distal monosomy type 1q, monosomy 1qter, telomeric deletion 1q
MONDO:0018205