Holt-Oram syndrome (HOS) is the most common form of heart-hand syndrome and is characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects. [ Orphanet:392 ]
Synonyms: HOLT-Oram syndrome Holt Oram Syndrome heart-hand syndrome type 1 HOS atriodigital dysplasia type 1 Holt-Oram syndrome
Term information
- UMLS:C0265264 (MONDO:equivalentTo)
- NCIT:C125592 (MONDO:equivalentTo)
- NORD:1248 (MONDO:NORD)
- ICD9:759.89 (MONDO:relatedTo)
- MedDRA:10050469 (Orphanet:392/e)
- SCTID:19092004 (MONDO:equivalentTo)
- MEDGEN:120524 (MONDO:equivalentTo)
- OMIM:142900 (Orphanet:392/e)
- GARD:6666 (MONDO:GARD)
- Orphanet:392 (OMIM:142900)
- DOID:0060468 (MONDO:equivalentTo)
- MESH:C535326 (Orphanet:392/e)
gard_rare, ordo_disorder, otar, rare, ordo_malformation_syndrome, nord_rare, orphanet_rare, clingen
http://purl.obolibrary.org/obo/DOID_0060468
http://identifiers.org/mesh/C535326
http://identifiers.org/snomedct/19092004
http://purl.obolibrary.org/obo/NCIT_C125592
http://identifiers.org/medgen/120524
http://www.orpha.net/ORDO/Orphanet_392
https://omim.org/entry/142900
http://linkedlifedata.com/resource/umls/id/C0265264
atrio-digital syndrome
atrio digital syndrome
heart-hand syndrome
atriodigital dysplasia
ventriculo-radial syndrome
HOS 1
Hos1
heart-hand syndrome, type 1
Cardiac-limb syndrome