chromosome 18q deletion syndrome
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 ]
Term info
- DOID:0060407 (MONDO:equivalentTo)
- MESH:C536580 (MONDO:equivalentTo)
- ICD9:758.39 (MONDO:relatedTo)
- SCTID:270889005 (MONDO:equivalentTo)
- GARD:0013000 (MONDO:equivalentTo)
- GARD:0010866 (MONDO:Orphanet-shared)
- OMIM:601808 (Orphanet:1600/e)
- NCIT:C84522 (MONDO:equivalentTo)
- Orphanet:1600 (OMIM:601808)
- Orphanet:262146 (MONDO:equivalentTo)
- UMLS:C0432443 (Orphanet:1600/e)
gard_rare, disease_grouping, ordo_malformation_syndrome
https://github.com/monarch-initiative/mondo/issues/3664
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.
http://linkedlifedata.com/resource/umls/id/C0432443, http://identifiers.org/mesh/C536580, http://purl.obolibrary.org/obo/Orphanet_262146, http://purl.obolibrary.org/obo/Orphanet_1600, http://purl.obolibrary.org/obo/NCIT_C84522, http://purl.obolibrary.org/obo/DOID_0060407, http://identifiers.org/snomedct/270889005, https://omim.org/entry/601808
http://purl.obolibrary.org/obo/MONDO_0015501, http://purl.obolibrary.org/obo/MONDO_0020226
deletion 18q, partial monosomy of chromosome 18q, 18q-syndrome, monosomy 18q, chromosome 18q deletion syndrome, 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
proximal 18q-, proximal 18q deletion, proximal chromosome 18q deletion syndrome, proximal 18q deletion syndrome
chromosome 18Q- syndrome, monosomy 18q syndrome, 18Q- syndrome, chromosome 18q deletion
MONDO:0011147