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distal monosomy 14q

Go to external page http://purl.obolibrary.org/obo/MONDO_0019898

Distal monosomy 14q is a rare chromosomal anomaly associated with various phenotypic features depending on the size of the deletion. The clinical features may include global developmental delay, hypotonia, congenital heart defects, dysmorphic features (high forehead, small palpebral fissures, epicanthi, blepharophimosis, broad and flat nasal bridge, broad philtrum, thin upper lip, high arched palate, pointed chin, malformed ears). High-pitched, weak cry, seizures and various dental and oftalmological anomalies were also reported. [ Orphanet:96150 ]

Synonyms: distal deletion 14q distal monosomy type 14q telomeric deletion 14q

This is just here as a test because I lose it

Term information

database cross reference
  • MEDGEN:1656422 (MONDO:equivalentTo)
  • Orphanet:96150 (MONDO:equivalentTo)
  • UMLS:C4749276 (MONDO:equivalentTo)
  • GARD:19329 (MONDO:GARD)
Subsets

ordo_disorder, gard_rare, rare, ordo_malformation_syndrome, nord_rare, orphanet_rare

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/3664

exactMatch

http://linkedlifedata.com/resource/umls/id/C4749276

http://www.orpha.net/ORDO/Orphanet_96150

http://identifiers.org/medgen/1656422

id

MONDO:0019898