lipodystrophy due to peptidic growth factors deficiency

Go to external page http://purl.obolibrary.org/obo/MONDO_0009312


Deficiency of the peptidic growth factors is characterized by loss of subcutaneous fat layers on the limbs, lipodystrophy in the face and trunk and scleroderma-like skin disorders (thickened skin on the palms and soles and skin pigment changes on the limbs and trunk). [ Orphanet:1979 ]

This is just here as a test because I lose it

Term information

database cross reference
  • Orphanet:1979 (OMIM:233805)
  • OMIM:233805 (Orphanet:1979)
  • ICD10:E88.1 (Orphanet:1979)
  • SCTID:724176001 (MONDO:equivalentTo)
  • GARD:0012604 (Orphanet-shared)
  • MESH:C565529 (MONDO:equivalentTo)
  • UMLS:C2931279 (Orphanet:1979)
  • GARD:0004280 (shared-umls-xref)
Subsets

ordo_disease

closeMatch

http://linkedlifedata.com/resource/umls/id/C1856243

definition

Deficiency of the peptidic growth factors is characterized by loss of subcutaneous fat layers on the limbs, lipodystrophy in the face and trunk and scleroderma-like skin disorders (thickened skin on the palms and soles and skin pigment changes on the limbs and trunk).

exactMatch

http://identifiers.org/snomedct/724176001

http://www.orpha.net/ORDO/Orphanet_1979

http://identifiers.org/mesh/C565529

http://linkedlifedata.com/resource/umls/id/C2931279

http://identifiers.org/omim/233805

has exact synonym

combined insulin, insulin-like growth factor 1 (IGF1) and epidermal growth factor (EGF) deficiency

Hoepffner-Dreyer-Reimers syndrome

Werner-like syndrome due to combined growth factor deficiency

has related synonym

peptide growth factors deficiency

peptidic growth factors deficiency

insulin, insulin-like Growth Factor I, and Epidermal Growth Factor deficiency

Hoepffner Dreyer Reimers syndrome

Werner-like syndrome due to combined Growth Factor deficiency

growth factors, combined defect OF

id

MONDO:0009312

Term relations

Subclass of: