JSON

heart-hand syndrome type 3

Go to external page http://purl.obolibrary.org/obo/MONDO_0007702

Heart-hand syndrome type 3 is a very rare heart-hand syndrome, described in three members of a Spanish family to date, which is characterized by a cardiac conduction defect (sick sinus, bundle-branch block) and brachydactyly, resembling brachydactyly type C of the hands, affecting principally the middle phalanges in conjunction with an extra ossicle on the proximal phalanx of both index fingers. Feet abnormalities are more subtle. [ Orphanet:1342 ]

Synonyms: Cardiomelic syndrome type 3 heart-limb syndrome type 3 atriodigital dysplasia type 3 heart-hand syndrome, Spanish type

This is just here as a test because I lose it

Term information

database cross reference
  • UMLS:C1841657 (MONDO:equivalentTo)
  • MEDGEN:333883 (MONDO:equivalentTo)
  • OMIM:140450 (Orphanet:1342/e)
  • MESH:C535853 (MONDO:equivalentTo)
  • Orphanet:1342 (OMIM:140450)
  • GARD:2614 (MONDO:GARD)
  • SCTID:721013001 (MONDO:equivalentTo)
Subsets

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

exactMatch

http://identifiers.org/mesh/C535853

http://linkedlifedata.com/resource/umls/id/C1841657

https://omim.org/entry/140450

http://identifiers.org/snomedct/721013001

http://www.orpha.net/ORDO/Orphanet_1342

http://identifiers.org/medgen/333883

has related synonym

upper limb malformations and congenital cardiac anomalies

brachydactyly and intraventricular conduction defect

id

MONDO:0007702

Term relations

Subclass of: