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Tel Hashomer camptodactyly syndrome

^ http://purl.obolibrary.org/obo/MONDO_0008901

Tel Hashomer camptodactyly syndrome is a rare syndrome characterized by camptodactyly, muscle hypoplasia and weakness, skeletal anomalies, facial dysmorphism and abnormal dermatoglyphics. [ Orphanet:3292 PMID:24171333 ]

Term info

database cross reference
  • MESH:C536953 (Orphanet:3292/e)
  • UMLS:C1859356 (Orphanet:3292/e)
  • OMIM:211960 (Orphanet:3292/e)
  • Orphanet:3292 (OMIM:211960)
  • SCTID:719946008 (MONDO:equivalentTo)
  • GARD:0005128 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_malformation_syndrome

definition

Tel Hashomer camptodactyly syndrome is a rare syndrome characterized by camptodactyly, muscle hypoplasia and weakness, skeletal anomalies, facial dysmorphism and abnormal dermatoglyphics.

exactMatch

http://linkedlifedata.com/resource/umls/id/C1859356, http://identifiers.org/mesh/C536953, http://identifiers.org/snomedct/719946008, http://purl.obolibrary.org/obo/Orphanet_3292, https://omim.org/entry/211960

has exact synonym

Tel Hashomer camptodactyly syndrome

has related synonym

camptodactyly with muscular hypoplasia, skeletal dysplasia, and abnormal palmar creases

id

MONDO:0008901

seeAlso

https://rarediseases.info.nih.gov/diseases/5128/tel-hashomer-camptodactyly-syndrome

Term relations