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distal trisomy 13q

Go to external page http://purl.obolibrary.org/obo/MONDO_0019886

Distal trisomy 13q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 13, with variable phenotype principally characterized by intellectual disability, psychomotor delay, craniofacial dysmorphism (incl. microcephaly, bushy eyebrows, long curled eyelashes, hypotelorism, low-set ears, prominent nasal bridge, long philtrum, high palate, thin upper lip), short neck, polydactyly, and hemangiomas. Cardiac, urogenital and neural tube defects, as well as umbilical and inguinal hernias, seizures and hypotonia, have also been reported. [ Orphanet:96105 ]

Synonyms: telomeric duplication 13q distal trisomy type 13q distal duplication 13q trisomy 13qter

This is just here as a test because I lose it

Term information

database cross reference
  • MEDGEN:1639680 (MONDO:equivalentTo)
  • UMLS:C4706933 (MONDO:equivalentTo)
  • SCTID:764454003 (MONDO:equivalentTo)
  • Orphanet:96105 (MONDO:equivalentTo)
  • GARD:19319 (MONDO:GARD)
Subsets

ordo_disorder, gard_rare, rare, ordo_malformation_syndrome, nord_rare, orphanet_rare

IAO 0000233

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

exactMatch

http://linkedlifedata.com/resource/umls/id/C4706933

http://identifiers.org/medgen/1639680

http://www.orpha.net/ORDO/Orphanet_96105

http://identifiers.org/snomedct/764454003

id

MONDO:0019886

Term relations

Subclass of: