http://csiro.au/mito_muscular_presentation|20220812

Mito_Muscular_Presentation

Mito_muscular_presentation

http://csiro.au/mito_muscular_presentation

Mito MTD part A - muscular presentation

ID785c1057-67b3-4f62-a58b-953fdf18e0cd
StatusACTIVE
URLhttp://csiro.au/mito_muscular_presentation
Version20220812
PublisherCSIRO

Includes

Systemhttp://purl.obolibrary.org/obo/hp.owl
Concepts
CodeDisplay
HP:0000602Ophthalmoplegia
HP:0000544External ophthalmoplegia
HP:0007650Progressive ophthalmoplegia
HP:0002058Mypoathic facies
HP:0000508Ptosis
HP:0003546Exercise intolerance
HP:0003324Generalised muscle weakness
HP:0001252Hypotonia
HP:0003236Elevated circulating creatine kinase concentration
HP:0003201Rhabdomyolysis
HP:0003457EMG abnormality
{
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  "id": "785c1057-67b3-4f62-a58b-953fdf18e0cd",
  "meta": {
  "versionId": "1",
  "lastUpdated": "2023-12-19T16:16:17.140+10:00"
  },
  "url": "http://csiro.au/mito_muscular_presentation",
  "version": "20220812",
  "name": "Mito_muscular_presentation",
  "title": "Mito_Muscular_Presentation",
  "status": "active",
  "publisher": "CSIRO",
  "description": "Mito MTD part A - muscular presentation",
  "compose": {
  "include": [ {
    "system": "http://purl.obolibrary.org/obo/hp.owl",
    "concept": [ {
    "code": "HP:0000602",
    "display": "Ophthalmoplegia"
    }, {
    "code": "HP:0000544",
    "display": "External ophthalmoplegia"
    }, {
    "code": "HP:0007650",
    "display": "Progressive ophthalmoplegia"
    }, {
    "code": "HP:0002058",
    "display": "Mypoathic facies"
    }, {
    "code": "HP:0000508",
    "display": "Ptosis"
    }, {
    "code": "HP:0003546",
    "display": "Exercise intolerance"
    }, {
    "code": "HP:0003324",
    "display": "Generalised muscle weakness"
    }, {
    "code": "HP:0001252",
    "display": "Hypotonia"
    }, {
    "code": "HP:0003236",
    "display": "Elevated circulating creatine kinase concentration"
    }, {
    "code": "HP:0003201",
    "display": "Rhabdomyolysis"
    }, {
    "code": "HP:0003457",
    "display": "EMG abnormality"
    } ]
  } ]
  }
}