trisomy 22
http://purl.obolibrary.org/obo/MONDO_0022759
Trisomy 22 is a chromosome disorder in which an extra (third) copy of chromosome 22 is present in every cell of the body where there should normally only be two copies. This condition is commonly found in miscarriages, but only rarely in liveborn infants. Most affected individuals die shortly before or shortly after birth due to severe complications. Common features include an underdeveloped midface (midface hypoplasia)with flat/broad nasal bridge, malformed ears with pits or tags, cleft palate, hypertelorism (wide-spaced eyes), microcephaly and other cranial abnormalities, congenital heart disease, genital abnormalities, and intrauterine growth restriction (IUGR). [ GARD:0005335 ]
Term info
- SCTID:205655003 (MONDO:equivalentTo)
- GARD:0005335 (MONDO:equivalentTo)
- MESH:C536799 (MONDO:equivalentTo)
- UMLS:C0265490 (MONDO:equivalentTo)
gard_rare
Trisomy 22 is a chromosome disorder in which an extra (third) copy of chromosome 22 is present in every cell of the body where there should normally only be two copies. This condition is commonly found in miscarriages, but only rarely in liveborn infants. Most affected individuals die shortly before or shortly after birth due to severe complications. Common features include an underdeveloped midface (midface hypoplasia)with flat/broad nasal bridge, malformed ears with pits or tags, cleft palate, hypertelorism (wide-spaced eyes), microcephaly and other cranial abnormalities, congenital heart disease, genital abnormalities, and intrauterine growth restriction (IUGR).
http://identifiers.org/mesh/C536799, http://linkedlifedata.com/resource/umls/id/C0265490, http://identifiers.org/snomedct/205655003
chromosome 22 trisomy
MONDO:0022759
https://rarediseases.info.nih.gov/diseases/5335/trisomy-22