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chromosome 18q deletion syndrome

Go to external page http://purl.obolibrary.org/obo/MONDO_0011147

A condition in which some or all of the cells of the body contain extra genetic material from chromosome 18. Clinical features of this condition may include the following: spina bifida, hearing loss, cleft lip, cleft palate, undescended testes, rocker bottom feet, micrognathia, low set ears, cardiac anomalies (ventricular septal defect, atrial septal defect, patent ductus arteriosus, tetralogy of Fallot), intellectual disability, holoprosencephaly, pituitary dysplasia, seizures, autoimmune disorders, hip dysplasia, and/or congenital cataracts. [ NCIT:C84522 ]

Synonyms: deletion 18q Chromosome 18q- Syndrome partial monosomy of chromosome 18q 18q-syndrome chromosome 18q deletion syndrome monosomy 18q 18Q syndrome partial monosomy of the long arm of chromosome 18 deletion 18q syndrome 18q deletion syndrome monosomy type 18q partial deletion of the long arm of chromosome type 18 partial deletion of the long arm of chromosome 18 partial deletion of chromosome 18q

This is just here as a test because I lose it

Term information

database cross reference
  • icd11.foundation:1121828795 (https://orcid.org/0000-0002-4142-7153)
  • NANDO:1200579 (https://orcid.org/0000-0003-0011-764X)
  • GARD:10865 (MONDO:GARD)
  • MESH:C536580 (MONDO:equivalentTo)
  • UMLS:C0432443 (MONDO:equivalentTo)
  • MEDGEN:96605 (MONDO:equivalentTo)
  • SCTID:270889005 (MONDO:equivalentTo)
  • NORD:946 (MONDO:NORD)
  • NCIT:C84522 (MONDO:equivalentTo)
  • NANDO:2201291 (https://orcid.org/0000-0003-0011-764X)
  • OMIM:601808 (Orphanet:1600/e)
  • ICD9:758.39 (MONDO:relatedTo)
  • Orphanet:1600 (OMIM:601808)
  • DOID:0060407 (MONDO:equivalentTo)
  • Orphanet:262146 (MONDO:equivalentTo)
Subsets

ordo_disorder, gard_rare, otar, disease_grouping, rare, ordo_malformation_syndrome, nord_rare, orphanet_rare, ordo_group_of_disorders

conformsTo

http://purl.obolibrary.org/obo/mondo/patterns/chromosomal_region_deletion.yaml

exactMatch

http://identifiers.org/medgen/96605

http://linkedlifedata.com/resource/umls/id/C0432443

http://identifiers.org/mesh/C536580

http://www.orpha.net/ORDO/Orphanet_262146

http://purl.obolibrary.org/obo/NCIT_C84522

http://purl.obolibrary.org/obo/DOID_0060407

http://www.orpha.net/ORDO/Orphanet_1600

http://identifiers.org/snomedct/270889005

https://omim.org/entry/601808

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0015501

http://purl.obolibrary.org/obo/MONDO_0005027

http://purl.obolibrary.org/obo/MONDO_0020226

has narrow synonym

proximal 18q-

proximal 18q deletion

proximal chromosome 18q deletion syndrome

proximal 18q deletion syndrome

has related synonym

chromosome 18Q- syndrome

monosomy 18q syndrome

18Q- syndrome

chromosome 18q deletion

id

MONDO:0011147

term tracker item

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