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4p16.3 microduplication syndrome

Go to external page http://purl.obolibrary.org/obo/MONDO_0019873

4p16.3 microduplication syndrome is a rare genetic syndrome that results from the partial duplication of the short arm of chromosome 4. It has a highly variable phenotype, principally characterized by psychomotor and language delay, seizures and dysmorphic features such as high forehead with frontal bossing, hypertelorism, prominent glabella, long narrow palpebral fissures, low set ears and short neck. Eye abnormalities (glaucoma, irregular iris pigmentation, hyperopia) have also been reported. [ Orphanet:96072 ]

Synonyms: telomeric duplication 4p distal duplication 4p trisomy 4pter distal trisomy 4p

This is just here as a test because I lose it

Term information

database cross reference
  • UMLS:C4512053 (MONDO:equivalentTo)
  • Orphanet:96072 (MONDO:equivalentTo)
  • MEDGEN:1387521 (MONDO:equivalentTo)
  • GARD:19306 (MONDO:GARD)
  • SCTID:726706008 (MONDO:equivalentTo)
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://www.orpha.net/ORDO/Orphanet_96072

http://linkedlifedata.com/resource/umls/id/C4512053

http://identifiers.org/snomedct/726706008

http://identifiers.org/medgen/1387521

id

MONDO:0019873