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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:cutis laxa
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Accession:EFO:MONDO:0016175 term browser browse the term
Definition:Cutis laxa (CL) is an inherited or acquired connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated with skeletal and developmental anomalies and, in some cases, with severe systemic involvement. Several different forms of inherited CL have been described, differentiated on the basis of the mode of inheritance and differences in the extent of internal organ involvement, associated anomalies and disease severity.
Synonyms:exact_synonym: DOID:3144;   NCIT:C84663;   Orphanet:209;   elastolysis;   http://identifiers.org/medgen/8206;   http://identifiers.org/mesh/D003483;   http://identifiers.org/snomedct/58588007;   http://linkedlifedata.com/resource/umls/id/C0010495;   http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/1227401566;   loose skin
 synonym: http://identifiers.org/meddra/10011692
 related_synonym: generalised elastolysis;   generalized elastolysis
 alt_id: MONDO:0016175
 xref: DOID:3144;   GARD:6227;   MEDGEN:8206;   MESH:D003483;   MedDRA:10011692;   NCI:C84663;   NORD:1022;   ORDO:209;   SCTID:58588007;   UMLS:C0010495;   icd11.foundation:1227401566
 see_also: https://rarediseases.info.nih.gov/diseases/6227/cutis-laxa" xsd:anyURI {source="GARD:0006227


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Path 1
Term Annotations click to browse term
  experimental factor 0
    material property 0
      disposition 0
        disease 0
          integumentary system disease 0
            cutis laxa 0
              acquired cutis laxa 0
              inherited cutis laxa + 0
Path 2
Term Annotations click to browse term
  experimental factor 0
    material property 0
      disposition 0
        disease 0
          head and neck disorder 0
            disease of orbital region 0
              eye disease 0
                eye adnexa disease 0
                  eyelid disease 0
                    entropion 0
                      congenital entropion 0
                        cutis laxa 0
                          acquired cutis laxa 0
                          inherited cutis laxa + 0
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