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distal trisomy 11q

Go to external page http://purl.obolibrary.org/obo/MONDO_0019885

Distal trisomy 11q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 11, with high phenotypic variability principally characterized by craniofacial dysmorphism (brachycephaly/plagiocephaly, low-set, posteriorly rotated ears, short philtrum, micrognathia) and intellectual disability. Short stature and seizures, as well as cardiac (e.g. atrial septal defect), skeletal (incl. brachy/syndactyly) and genital (e.g. micropenis, cryptorchidism) abnormalities may also be associated. Neurodevelopmental anomalies (pain insensitivity, sensorineural hearing loss, expressive language deficiency) and neuropsychiatric disorders (autistic features, auditory hallucination, self-talking) have also been reported. [ Orphanet:96103 ]

Synonyms: telomeric duplication 11q distal duplication 11q distal trisomy type 11q trisomy 11qter Chromosome 11, Partial Trisomy 11q

This is just here as a test because I lose it

Term information

database cross reference
  • GARD:19318 (MONDO:GARD)
  • Orphanet:96103 (MONDO:equivalentTo)
  • NORD:937 (MONDO:NORD)
  • MEDGEN:419166 (MONDO:equivalentTo)
  • UMLS:C2931797 (MONDO:equivalentTo)
  • SCTID:764447009 (MONDO:equivalentTo)
  • MESH:C538294 (Orphanet:96103/e)
Subsets

gard_rare, ordo_disorder, rare, ordo_malformation_syndrome, nord_rare, orphanet_rare

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/3492

exactMatch

http://identifiers.org/medgen/419166

http://identifiers.org/mesh/C538294

http://identifiers.org/snomedct/764447009

http://www.orpha.net/ORDO/Orphanet_96103

http://linkedlifedata.com/resource/umls/id/C2931797

id

MONDO:0019885

Term relations

Subclass of: