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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:Ehlers-Danlos syndrome, musculocontractural type
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Accession:EFO:MONDO:0011142 term browser browse the term
Definition:Ehlers-Danlos syndrome, musculocontractural type is a congenital form of Ehlers-Danlos syndrome characterized by distinct craniofacial features, multiple contractures, progressive joint and skin laxity, adduction-flexion contractures of the thumbs, talipes equinovarus, bruisability and multisystem fragility-related manifestations.
Synonyms:exact_synonym: ATCS;   CHST14-related EDS;   CHST14-related Ehlers-Danlos syndrome;   D4ST1-deficient EDS;   D4ST1-deficient Ehlers-Danlos syndrome;   EDS, Kosho type;   EDS, arthrogryposic type;   EDS, musculocontractural type;   Ehlers-Danlos syndrome, Kosho type;   Ehlers-Danlos syndrome, arthrogryposic type;   MCEDS;   adducted thumbs-arthrogryposis syndrome, Dundar type;   musculocontractural Ehlers-Danlos syndrome
 related_synonym: Dundar syndrome;   EDS6B, formerly;   EDSMC;   EDSMC1;   Ehlers-Danlos syndrome, musculocontractural type 1;   Ehlers-Danlos syndrome, type VIB, formerly;   Ehlers-Danlos syndrome, type Vib;   adducted thumb clubfoot syndrome;   adducted thumb, clubfoot, and progressive joint and skin laxity syndrome;   adducted thumb-club foot syndrome;   adducted thumbs Dundar type;   arthrogryposis, distal, with peculiar facies and hydronephrosis;   autosomal recessive adducted thumb-club foot syndrome;   musculocontractural EDS
 alt_id: MONDO:0011142
 xref: GARD:8486;   MEDGEN:356497;   MESH:C000600608;   NANDO:1200652;   NANDO:2201262;   ORDO:2953;   SCTID:720860004;   UMLS:C1866294
 see_also: https://rarediseases.info.nih.gov/diseases/545/adducted-thumbs-dundar-type" xsd:anyURI {source="GARD:0000545


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  experimental factor 0
    material property 0
      disposition 0
        disease 0
          genetic disorder 0
            distal arthrogryposis 0
              Ehlers-Danlos syndrome, musculocontractural type 0
Path 2
Term Annotations click to browse term
  experimental factor 0
    material property 0
      disposition 0
        disease 0
          disorder of development or morphogenesis 0
            developmental defect during embryogenesis 0
              congenital limb malformation 0
                arthrogryposis syndrome 0
                  distal arthrogryposis 0
                    Ehlers-Danlos syndrome, musculocontractural type 0
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