[ { "id": "MHO:000076", "text": "ATPase staining", "icon": true, "data": { "description": "", "synonymes": "", "phenotype_datamined": "", "gene_datamined": "", "alternative_language": "Enzymologie ATPasique", "correlates_with": "", "hex_color": "#C19CF4", "hpo_datamined": "", "image_annotation": false }, "parent": "#" }, { "id": "MHO:000089", "text": "ATPase activity", "icon": true, "data": { "description": "", "synonymes": "", "phenotype_datamined": "", "gene_datamined": "", "alternative_language": "Activit\u00e9 ATPasique", "correlates_with": "", "hex_color": "#C5326E", "hpo_datamined": "", "image_annotation": false }, "parent": "MHO:000076" }, { "id": "MHO:000095", "text": "Abnormal ATPase activity", "icon": true, "data": { "description": "", "synonymes": "", "phenotype_datamined": "ORPHA:172976 Congenital myopathy with cores", "gene_datamined": "HGNC:12403 TTN,HGNC:129 ACTA1", "alternative_language": "Activit\u00e9 ATPasique Anormale", "correlates_with": "", "hex_color": "#ABC865", "hpo_datamined": "", "image_annotation": false }, "parent": "MHO:000089" }, { "id": "MHO:000090", "text": "Acid-Resistant Activity (Type 1)", "icon": true, "data": { "description": "", "synonymes": "Acide-Resistant,Acid-Resistant", "phenotype_datamined": "ORPHA:172976 Congenital myopathy with cores", "gene_datamined": "HGNC:129 ACTA1", "alternative_language": "Activit\u00e9 Acide-R\u00e9sistant (Type 1)", "correlates_with": "", "hex_color": "#80A42F", "hpo_datamined": "", "image_annotation": false }, "parent": "MHO:000089" }, { "id": "MHO:000091", "text": "Central ATP activity", "icon": true, "data": { "description": "", "synonymes": "", "phenotype_datamined": "ORPHA:595 Centronuclear myopathy", "gene_datamined": "HGNC:7448 MTM1,HGNC:9752 QDPR", "alternative_language": "Activit\u00e9 ATP Centrale", "correlates_with": "", "hex_color": "#188893", "hpo_datamined": "", "image_annotation": false }, "parent": "MHO:000089" }, { "id": "MHO:000093", "text": "Extended Range Activity", "icon": true, "data": { "description": "", "synonymes": "Plage \u00e9tendue,Extended Range", "phenotype_datamined": "", "gene_datamined": "", "alternative_language": "Activit\u00e9 en Plage \u00e9tendue", "correlates_with": "", "hex_color": "#1B8ED5", "hpo_datamined": "", "image_annotation": false }, "parent": "MHO:000089" }, { "id": "MHO:000094", "text": "Halo activity", "icon": true, "data": { "description": "", "synonymes": "Halo", "phenotype_datamined": "ORPHA:172976 Congenital myopathy with cores", "gene_datamined": "HGNC:7577 MYH7", "alternative_language": "Activit\u00e9 en Halo", "correlates_with": "", "hex_color": "#0F1786", "hpo_datamined": "", "image_annotation": false }, "parent": "MHO:000089" }, { "id": "MHO:000096", "text": "Locally Abnormal ATP Activity (Clear Zone)", "icon": true, "data": { "description": "", "phenotype_datamined": "ORPHA:172976 Congenital myopathy with cores,ORPHA:595 Centronuclear myopathy,ORPHA:607 Nemaline myopathy", "gene_datamined": "HGNC:10483 RYR1,HGNC:12403 TTN,HGNC:129 ACTA1,HGNC:7448 MTM1,HGNC:7577 MYH7,HGNC:7720 NEB", "synonymes": "", "alternative_language": "Activit\u00e9 ATPasique Anormale Localement (Zone Claire)", "correlates_with": "MHO:000027 Centralized Nuclei,MHO:000096 Locally Abnormal ATP Activity (Clear Zone)", "hex_color": "#A093D4", "hpo_datamined": ",HP:0001324 Muscle weakness,HP:0001252 Hypotonia,HP:0001319 Neonatal hypotonia", "image_annotation": false }, "parent": "MHO:000089" }, { "id": "MHO:000092", "text": "Peripheral ATP activity", "icon": true, "data": { "description": "", "synonymes": "", "phenotype_datamined": "", "gene_datamined": "", "alternative_language": "Activit\u00e9 ATP P\u00e9riph\u00e9rique", "correlates_with": "", "hex_color": "#A0C802", "hpo_datamined": "", "image_annotation": false }, "parent": "MHO:000089" }, { "id": "MHO:000077", "text": "Fibre differentiation", "icon": true, "data": { "description": "", "synonymes": "", "phenotype_datamined": "", "gene_datamined": "", "alternative_language": "Diff\u00e9rentiation des Fibres", "correlates_with": "", "hex_color": "#CB89E3", "hpo_datamined": "", "image_annotation": false }, "parent": "MHO:000076" }, { "id": "MHO:000078", "text": "Abnormal differentiation", "icon": true, "data": { "description": "", "synonymes": "fibre type disproportion", "phenotype_datamined": "", "gene_datamined": "", "correlates_with": "MHO:000031 Increase in the number of nuclei,MHO:000078 Abnormal differentiation", "alternative_language": "Diff\u00e9renciation Anormale", "hex_color": "#613C20", "hpo_datamined": "", "image_annotation": false }, "parent": "MHO:000077" }, { "id": "MHO:000080", "text": "Area without ATPase activity", "icon": true, "data": { "description": "", "synonymes": "", "phenotype_datamined": "", "gene_datamined": "", "correlates_with": "MHO:000036 Fuscinophilic material: Dark clusters/aggregates,MHO:000048 Rods,MHO:000080 Area without ATPase activity", "alternative_language": "Zone sans activit\u00e9 ATPase", "hex_color": "#7C0CD9", "hpo_datamined": "", "image_annotation": false }, "parent": "MHO:000077" }, { "id": "MHO:000079", "text": "Pale Atrophic Fibre Staining", "icon": true, "data": { "description": "", "synonymes": "", "phenotype_datamined": "", "gene_datamined": "", "alternative_language": "Coloration P\u00e2le des Fibre Atrophiques", "correlates_with": "", "hex_color": "#41CA1C", "hpo_datamined": "", "image_annotation": false }, "parent": "MHO:000077" }, { "id": "MHO:000081", "text": "Type Uniformity", "icon": true, "data": { "description": "", "synonymes": "", "phenotype_datamined": "ORPHA:172976 Congenital myopathy with cores,ORPHA:595 Centronuclear myopathy,ORPHA:607 Nemaline myopathy,UNCLEAR", "gene_datamined": "HGNC:12403 TTN,HGNC:7448 MTM1,HGNC:7720 NEB,HGNC:9752 QDPR,N/A", "correlates_with": "MHO:000063 Connective Interstitial Tissue Increase,MHO:000081 Type Uniformity,MHO:000083 Predominance Fibre Type 1,MHO:000107 Structural Disorganisation", "alternative_language": "Uniformit\u00e9 de Type", "hex_color": "#C6FD2F", "hpo_datamined": ",HP:0001324 Muscle weakness,HP:0001252 Hypotonia,HP:0001319 Neonatal hypotonia", "image_annotation": false }, "parent": "MHO:000077" }, { "id": "MHO:000082", "text": "Numeric Fibre Distribution", "icon": true, "data": { "description": "", "synonymes": "", "phenotype_datamined": "", "gene_datamined": "", "alternative_language": "R\u00e9partition Num\u00e9rique des Fibres", "correlates_with": "", "hex_color": "#59C385", "hpo_datamined": "", "image_annotation": false }, "parent": "MHO:000076" }, { "id": "MHO:000083", "text": "Predominance Fiber Type 1", "icon": true, "data": { "description": "", "synonymes": "", "phenotype_datamined": "ORPHA:172976 Congenital myopathy with cores,ORPHA:595 Centronuclear myopathy,ORPHA:607 Nemaline myopathy,UNCLEAR", "gene_datamined": "HGNC:10483 RYR1,HGNC:1052 BIN1,HGNC:12403 TTN,HGNC:129 ACTA1,HGNC:7448 MTM1,HGNC:7577 MYH7,HGNC:7720 NEB,HGNC:9752 QDPR,N/A", "correlates_with": "MHO:000081 Type Uniformity,MHO:000083 Predominance Fibre Type 1", "alternative_language": "Pr\u00e9dominance Fibre Type 1", "hex_color": "#7E19C5", "hpo_datamined": ",HP:0001324 Muscle weakness,HP:0001252 Hypotonia,HP:0001319 Neonatal hypotonia", "image_annotation": false }, "parent": "MHO:000082" }, { "id": "MHO:000084", "text": "Predominance Fiber Type 2", "icon": true, "data": { "description": "", "synonymes": "", "phenotype_datamined": "", "gene_datamined": "", "correlates_with": "MHO:000030 Nuclei with Myotubular Aspects,MHO:000084 Predominance Fibre Type 2", "alternative_language": "Pr\u00e9dominance Fibre Type 2", "hex_color": "#4BEBA8", "hpo_datamined": "", "image_annotation": false }, "parent": "MHO:000082" }, { "id": "MHO:000085", "text": "Topographical Distribution of Fibre Types", "icon": true, "data": { "description": "", "synonymes": "", "phenotype_datamined": "", "gene_datamined": "", "alternative_language": "R\u00e9partition Topographique des Types de Fibre", "correlates_with": "", "hex_color": "#3B7F84", "hpo_datamined": "", "image_annotation": false }, "parent": "MHO:000076" }, { "id": "MHO:000086", "text": "Fibre bundling", "icon": true, "data": { "description": "", "synonymes": "", "phenotype_datamined": "", "gene_datamined": "", "correlates_with": "MHO:000086 Fibre bundling,MHO:000087 Fibres 1 Grouped,MHO:000088 Fibres 2 Grouped", "alternative_language": "Regroupement des Fibres", "hex_color": "#55DEBE", "hpo_datamined": "", "image_annotation": false }, "parent": "MHO:000085" }, { "id": "MHO:000087", "text": "Fibres 1 Grouped", "icon": true, "data": { "description": "", "synonymes": "", "phenotype_datamined": "ORPHA:607 Nemaline myopathy", "gene_datamined": "HGNC:12403 TTN", "correlates_with": "MHO:000086 Fibre bundling,MHO:000087 Fibres 1 Grouped,MHO:000088 Fibres 2 Grouped", "alternative_language": "Fibres 1 Group\u00e9es", "hex_color": "#4D26F1", "hpo_datamined": "HP:0001324 Muscle weakness,HP:0001252 Hypotonia,HP:0001319 Neonatal hypotonia", "image_annotation": false }, "parent": "MHO:000085" }, { "id": "MHO:000088", "text": "Fibres 2 Grouped", "icon": true, "data": { "description": "", "synonymes": "", "phenotype_datamined": "", "gene_datamined": "", "correlates_with": "MHO:000086 Fibre bundling,MHO:000087 Fibres 1 Grouped,MHO:000088 Fibres 2 Grouped", "alternative_language": "Fibres 2 Group\u00e9es", "hex_color": "#D8390D", "hpo_datamined": "", "image_annotation": false }, "parent": "MHO:000085" }, { "id": "MHO:000156", "text": "Electron Microscopy (EM)", "icon": true, "data": { "description": "", "synonymes": "", "phenotype_datamined": "", "gene_datamined": "", "alternative_language": "Microscopie Electronique (ME)", "correlates_with": "", "hex_color": "#D08E9B", "hpo_datamined": "", "image_annotation": false }, "parent": "#" }, { "id": "MHO:000160", "text": "A Band", "icon": true, "data": { "description": "", "synonymes": "", "phenotype_datamined": "", "gene_datamined": "", "alternative_language": "Bande A", "correlates_with": "", "hex_color": "#7A8142", "hpo_datamined": "", "image_annotation": false }, "parent": "MHO:000156" }, { "id": "MHO:000164", "text": "Autophagic vacuoles", "icon": true, "data": { "description": "", "synonymes": "", "phenotype_datamined": "", "gene_datamined": "", "alternative_language": "Vacuoles Autophagiques", "correlates_with": "", "hex_color": "#34FA8E", "hpo_datamined": "", "image_annotation": false }, "parent": "MHO:000156" }, { "id": "MHO:000167", "text": "CAPS-type lesions", "icon": true, "data": { "description": "", "synonymes": "", "phenotype_datamined": "", "gene_datamined": "", "alternative_language": "L\u00e9sions de type CAPS", "correlates_with": "", "hex_color": "#17FE15", "hpo_datamined": "", "image_annotation": false }, "parent": "MHO:000156" }, { "id": "MHO:000157", "text": "Sarcomeric structure", "icon": true, "data": { "description": "", "synonymes": "", "phenotype_datamined": "", "gene_datamined": "", "alternative_language": "Structure sarcom\u00e9rique", "correlates_with": "", "hex_color": "#8B87EB", "hpo_datamined": "", "image_annotation": false }, "parent": "MHO:000156" }, { "id": "MHO:000159", "text": "Crescent-shaped sarcomeric structure", "icon": true, "data": { "description": "", "synonymes": "Crescent sarcomeric structure,Structure sarcom\u00e9rique en croissant", "phenotype_datamined": "", "gene_datamined": "", "alternative_language": "Structure sarcom\u00e9rique en Croissant", "correlates_with": "", "hex_color": "#E08D25", "hpo_datamined": "", "image_annotation": false }, "parent": "MHO:000157" }, { "id": "MHO:000158", "text": "Disorganized sarcomeric structure", "icon": true, "data": { "description": "", "synonymes": "D\u00e9sorganis\u00e9e", "phenotype_datamined": "", "gene_datamined": "", "alternative_language": "Structure sarcom\u00e9rique Remani\u00e9", "correlates_with": "", "hex_color": "#E6B4EC", "hpo_datamined": "", "image_annotation": false }, "parent": "MHO:000157" }, { "id": "MHO:000165", "text": "Tanker", "icon": true, "data": { "description": "", "synonymes": "", "phenotype_datamined": "", "gene_datamined": "", "alternative_language": "Citerne", "correlates_with": "", "hex_color": "#4511F4", "hpo_datamined": "", "image_annotation": false }, "parent": "MHO:000156" }, { "id": "MHO:000166", "text": "Tanker Expansion", "icon": true, "data": { "description": "", "synonymes": "", "phenotype_datamined": "", "gene_datamined": "", "alternative_language": "Dilatation de Citerne", "correlates_with": "", "hex_color": "#C5088D", "hpo_datamined": "", "image_annotation": false }, "parent": "MHO:000165" }, { "id": "MHO:000161", "text": "Z Material", "icon": true, "data": { "description": "", "synonymes": "", "phenotype_datamined": "", "gene_datamined": "", "alternative_language": "Materiel Z", "correlates_with": "", "hex_color": "#B903D6", "hpo_datamined": "", "image_annotation": false }, "parent": "MHO:000156" }, { "id": "MHO:000162", "text": "Z Material: Enlargement", "icon": true, "data": { "description": "", "synonymes": "", "phenotype_datamined": "", "gene_datamined": "", "alternative_language": "Materiel Z: Elargissement", "correlates_with": "", "hex_color": "#7CBADA", "hpo_datamined": "", "image_annotation": false }, "parent": "MHO:000161" }, { "id": "MHO:000163", "text": "Z Materiel: Streaming", "icon": true, "data": { "description": "", "synonymes": "", "phenotype_datamined": "", "gene_datamined": "", "alternative_language": "Materiel Z: Streaming", "correlates_with": "", "hex_color": "#89911C", "hpo_datamined": "", "image_annotation": false }, "parent": "MHO:000161" }, { "id": "MHO:000133", "text": "Enzymology Miscellaneous", "icon": true, "data": { "description": "", "genes": "test", "synonymes": "", "phenotype_datamined": "", "gene_datamined": "", "alternative_language": "Enzymologie Divers", "correlates_with": "", "hex_color": "#DBF65C", "hpo_datamined": "", "image_annotation": false }, "parent": "#" }, { "id": "MHO:000134", "text": "COX activity", "icon": true, "data": { "description": "", "synonymes": "", "phenotype_datamined": "", "gene_datamined": "", "alternative_language": "Activit\u00e9 COX", "correlates_with": "", "hex_color": "#66530A", "hpo_datamined": "", "image_annotation": false }, "parent": "MHO:000133" }, { "id": "MHO:000135", "text": "Abnormal COX activity", "icon": true, "data": { "description": "", "synonymes": "", "phenotype_datamined": "UNCLEAR", "gene_datamined": "N/A", "correlates_with": "MHO:000135 Abnormal COX activity", "alternative_language": "Activit\u00e9 COX Anormale", "hex_color": "#E31559", "hpo_datamined": "", "image_annotation": false }, "parent": "MHO:000134" }, { "id": "MHO:000136", "text": "Local Abnormal COX activity", "icon": true, "data": { "description": "", "synonymes": "", "phenotype_datamined": "ORPHA:607 Nemaline myopathy", "gene_datamined": "HGNC:7720 NEB,N/A", "correlates_with": "MHO:000005 Type 1 Hypertrophic (large),MHO:000136 Local Abnormal COX activity", "alternative_language": "Activit\u00e9 COX Anormale Localement", "hex_color": "#2BEACC", "hpo_datamined": "", "image_annotation": false }, "parent": "MHO:000134" }, { "id": "MHO:000142", "text": "PAS Staining", "icon": true, "data": { "description": "", "synonymes": "", "phenotype_datamined": "", "gene_datamined": "", "alternative_language": "Coloration PAS", "correlates_with": "", "hex_color": "#EC3F37", "hpo_datamined": "", "image_annotation": false }, "parent": "MHO:000133" }, { "id": "MHO:000143", "text": "Abnormal PAS Staining (Overload)", "icon": true, "data": { "description": "", "phenotype_datamined": "ORPHA:172976 Congenital myopathy with cores,ORPHA:607 Nemaline myopathy", "gene_datamined": "HGNC:10483 RYR1,HGNC:7720 NEB", "synonymes": "", "correlates_with": "MHO:000143 Abnormal PAS Staining (Overload)", "alternative_language": "Coloration PAS Anormale (Surcharge)", "hex_color": "#A3D834", "hpo_datamined": "", "image_annotation": false }, "parent": "MHO:000142" }, { "id": "MHO:000146", "text": "PAS Staining: Diffuse Overload", "icon": true, "data": { "description": "", "synonymes": "", "phenotype_datamined": "", "gene_datamined": "", "alternative_language": "Coloration PAS: Surcharge Diffuse", "correlates_with": "", "hex_color": "#3F5B17", "hpo_datamined": "", "image_annotation": false }, "parent": "MHO:000142" }, { "id": "MHO:000148", "text": "PAS Staining: High Contrast Type I and II", "icon": true, "data": { "description": "", "synonymes": "", "phenotype_datamined": "", "gene_datamined": "", "alternative_language": "Coloration PAS: Contraste Fort Type I et II", "correlates_with": "", "hex_color": "#450AAC", "hpo_datamined": "", "image_annotation": false }, "parent": "MHO:000142" }, { "id": "MHO:000145", "text": "PAS Staining: Irregular / Uneven", "icon": true, "data": { "description": "", "synonymes": "", "phenotype_datamined": "ORPHA:172976 Congenital myopathy with cores", "gene_datamined": "HGNC:129 ACTA1", "alternative_language": "Coloration PAS: Irr\u00e9guli\u00e8re / In\u00e9gale", "correlates_with": "", "hex_color": "#2A4A55", "hpo_datamined": "", "image_annotation": false }, "parent": "MHO:000142" }, { "id": "MHO:000144", "text": "PAS Staining: Locally Abnormal (Overload)", "icon": true, "data": { "description": "", "synonymes": "", "phenotype_datamined": "", "gene_datamined": "", "correlates_with": "MHO:000062 Interstitial alterations,MHO:000144 PAS Staining: Locally Abnormal (Overload)", "alternative_language": "Coloration PAS Anormale Localement (Surcharge)", "hex_color": "#320000", "hpo_datamined": "", "image_annotation": false }, "parent": "MHO:000142" }, { "id": "MHO:000149", "text": "PAS Staining: Low Level", "icon": true, "data": { "description": "", "phenotype_datamined": "", "gene_datamined": "", "synonymes": "", "alternative_language": "Coloration PAS Teneur Faible", "correlates_with": "", "hex_color": "#1AB017", "hpo_datamined": "", "image_annotation": false }, "parent": "MHO:000142" }, { "id": "MHO:000147", "text": "PAS Staining: Overdosing in Abnormal Fibre", "icon": true, "data": { "description": "", "synonymes": "", "phenotype_datamined": "", "gene_datamined": "", "alternative_language": "Coloration PAS: Surchage dans Fibre Anormales", "correlates_with": "", "hex_color": "#FEA257", "hpo_datamined": "", "image_annotation": false }, "parent": "MHO:000142" }, { "id": "MHO:000137", "text": "Phospholipase activity", "icon": true, "data": { "description": "", "synonymes": "", "phenotype_datamined": "", "gene_datamined": "", "alternative_language": "Activit\u00e9 Phospholipases", "correlates_with": "", "hex_color": "#83CC6B", "hpo_datamined": "", "image_annotation": false }, "parent": "MHO:000133" }, { "id": "MHO:000140", "text": "Abnormal Phospholipase Activity Locally", "icon": true, "data": { "description": "", "phenotype_datamined": "ORPHA:607 Nemaline myopathy", "gene_datamined": "HGNC:129 ACTA1,HGNC:7577 MYH7", "synonymes": "", "correlates_with": "MHO:000140 Abnormal Phospholipase Activity Locally,MHO:000151 Sudan Staining: Abornmal (Lipids Overload)", "alternative_language": "Activit\u00e9 Phospholipases Anormale Localement", "hex_color": "#74C1E2", "hpo_datamined": "", "image_annotation": false }, "parent": "MHO:000137" }, { "id": "MHO:000138", "text": "Abnormal Phospholipase+AMP activity", "icon": true, "data": { "description": "", "synonymes": "", "phenotype_datamined": "ORPHA:607 Nemaline myopathy", "gene_datamined": "HGNC:129 ACTA1", "correlates_with": "MHO:000029 Sub-Sarcolemmal Nuclei,MHO:000138 Abnormal Phospholipase+AMP activity,MHO:000139 Abnormal phospholipase activity", "alternative_language": "Activit\u00e9 Phospholipases+AMP Anormale", "hex_color": "#C7D991", "hpo_datamined": "", "image_annotation": false }, "parent": "MHO:000137" }, { "id": "MHO:000139", "text": "Abnormal phospholipase activity", "icon": true, "data": { "description": "", "synonymes": "", "phenotype_datamined": "", "gene_datamined": "", "correlates_with": "MHO:000138 Abnormal Phospholipase+AMP activity,MHO:000139 Abnormal phospholipase activity", "alternative_language": "Activit\u00e9 Phospholipases Anormale", "hex_color": "#704E95", "hpo_datamined": "", "image_annotation": false }, "parent": "MHO:000137" }, { "id": "MHO:000141", "text": "Diffuse Phospholipase Activity", "icon": true, "data": { "description": "", "phenotype_datamined": "", "gene_datamined": "", "synonymes": "", "alternative_language": "Activit\u00e9 Phospholipases Diffuse", "correlates_with": "", "hex_color": "#1F5269", "hpo_datamined": "", "image_annotation": false }, "parent": "MHO:000137" }, { "id": "MHO:000150", "text": "Sudan colouring", "icon": true, "data": { "description": "", "synonymes": "", "phenotype_datamined": "", "gene_datamined": "", "alternative_language": "Coloration Soudan", "correlates_with": "", "hex_color": "#22DDA9", "hpo_datamined": "", "image_annotation": false }, "parent": "MHO:000133" }, { "id": "MHO:000151", "text": "Sudan Staining: Abornmal (Lipids Overload)", "icon": true, "data": { "description": "", "phenotype_datamined": "ORPHA:607 Nemaline myopathy", "gene_datamined": "HGNC:12403 TTN,HGNC:129 ACTA1,HGNC:7720 NEB", "synonymes": "soudan surcharge,soudan overload,surcharge lipide", "correlates_with": "MHO:000036 Dark clusters,MHO:000048 Rods,MHO:000140 Abnormal Phospholipase Activity Locally,MHO:000151 Sudan Staining: Abornmal (Lipids Overload)", "alternative_language": "Coloration Soudan: Anormale (Surchage en Lipides)", "hex_color": "#F462F3", "hpo_datamined": ",HP:0001324 Muscle weakness,HP:0001252 Hypotonia,HP:0001319 Neonatal hypotonia", "image_annotation": false }, "parent": "MHO:000150" }, { "id": "MHO:000152", "text": "Sudan Staining: Lipid Droplets", "icon": true, "data": { "description": "", "synonymes": "goutelette lipidiques,lipid droplets", "phenotype_datamined": "ORPHA:607 Nemaline myopathy", "gene_datamined": "HGNC:7720 NEB", "alternative_language": "Coloration Soudan: Goutelettes Lipidiques", "correlates_with": "", "hex_color": "#E9865F", "hpo_datamined": "", "image_annotation": false }, "parent": "MHO:000150" }, { "id": "MHO:000154", "text": "Sudan Staining: Overload in Disorganized Fibres", "icon": true, "data": { "description": "", "synonymes": "surcharge dans les fibre remani\u00e9es,overload in disorganized fibers", "phenotype_datamined": "", "gene_datamined": "", "alternative_language": "Coloration Soudan: Surchage dans les Fibres Remani\u00e9es", "correlates_with": "", "hex_color": "#1B0BA7", "hpo_datamined": "", "image_annotation": false }, "parent": "MHO:000150" }, { "id": "MHO:000153", "text": "Sudan Staining: Overload in Type I Fibre", "icon": true, "data": { "description": "", "synonymes": "surchage dans fibre type I,overload in type I fibre", "phenotype_datamined": "", "gene_datamined": "", "alternative_language": "Coloration Soudan: Surchage dans Fibre Type I", "correlates_with": "", "hex_color": "#D8BBF1", "hpo_datamined": "", "image_annotation": false }, "parent": "MHO:000150" }, { "id": "MHO:000155", "text": "Sudan Staining: Type II fibres richer than Type I", "icon": true, "data": { "description": "", "synonymes": "Fibre type II plus riche,Fiber type II richer", "phenotype_datamined": "", "gene_datamined": "", "alternative_language": "Coloration Soudan: Fibres Type II plus riche que Type I", "correlates_with": "", "hex_color": "#9FDD3F", "hpo_datamined": "", "image_annotation": false }, "parent": "MHO:000150" }, { "id": "MHO:000001", "text": "HE and TG staining", "icon": true, "data": { "description": "", "synonymes": "", "phenotype_datamined": "", "gene_datamined": "", "alternative_language": "Coloration HE et TG", "correlates_with": "", "hex_color": "#DC4807", "hpo_datamined": "", "image_annotation": false }, "parent": "#" }, { "id": "MHO:000002", "text": "Biopsy Global Aspect", "icon": true, "data": { "description": "", "phenotype_datamined": "", "gene_datamined": "", "synonymes": "", "alternative_language": "Aspect Global Pr\u00e9l\u00e8vement", "correlates_with": "", "hex_color": "#7B1AFF", "hpo_datamined": "", "image_annotation": false }, "parent": "MHO:000001" }, { "id": "MHO:000003", "text": "Abnormal Biopsy", "icon": true, "data": { "description": "", "phenotype_datamined": "ORPHA:172976 Congenital myopathy with cores,ORPHA:595 Centronuclear myopathy,ORPHA:607 Nemaline myopathy,UNCLEAR", "gene_datamined": "HGNC:10483 RYR1,HGNC:12403 TTN,HGNC:129 ACTA1,HGNC:7720 NEB,N/A", "synonymes": "", "alternative_language": "Pr\u00e9l\u00e8vement Anormal", "correlates_with": "", "hex_color": "#A2C7B9", "hpo_datamined": "", "image_annotation": false }, "parent": "MHO:000002" }, { "id": "MHO:000058", "text": "Connective Tissue", "icon": true, "data": { "description": "", "synonymes": "", "phenotype_datamined": "", "gene_datamined": "", "alternative_language": "Tissu Conjonctif", "correlates_with": "", "hex_color": "#5824D1", "hpo_datamined": "", "image_annotation": false }, "parent": "MHO:000001" }, { "id": "MHO:000059", "text": "Fibrous connective tissue", "icon": true, "data": { "description": "", "synonymes": "", "phenotype_datamined": "ORPHA:172976 Congenital myopathy with cores,ORPHA:595 Centronuclear myopathy,ORPHA:607 Nemaline myopathy,UNCLEAR", "gene_datamined": "HGNC:12403 TTN,HGNC:7448 MTM1,N/A", "alternative_language": "Tissus conjonctif Fibreux", "correlates_with": "", "hex_color": "#5827D1", "hpo_datamined": "", "image_annotation": false }, "parent": "MHO:000058" }, { "id": "MHO:000060", "text": "Lipomatous connective tissue", "icon": true, "data": { "description": "", "synonymes": "", "phenotype_datamined": "ORPHA:172976 Congenital myopathy with cores,ORPHA:595 Centronuclear myopathy,UNCLEAR", "gene_datamined": "HGNC:10483 RYR1,HGNC:7448 MTM1,N/A", "alternative_language": "Tissus conjonctif Lipomateux", "correlates_with": "", "hex_color": "#37CEE2", "hpo_datamined": "", "image_annotation": false }, "parent": "MHO:000058" }, { "id": "MHO:000175", "text": "Cytoplasm", "icon": true, "data": { "description": "", "synonymes": "", "phenotype_datamined": "", "gene_datamined": "", "alternative_language": "Cystoplasme", "correlates_with": "", "image_annotation": true, "hex_color": "#70e663", "hpo_datamined": "" }, "parent": "MHO:000001" }, { "id": "MHO:000069", "text": "Endosymal collagen", "icon": true, "data": { "description": "", "synonymes": "", "phenotype_datamined": "", "gene_datamined": "", "alternative_language": "Collag\u00e8ne Endosymial", "correlates_with": "", "hex_color": "#B1B19B", "hpo_datamined": "", "image_annotation": false }, "parent": "MHO:000001" }, { "id": "MHO:000070", "text": "Increase in Endosymal Collagen", "icon": true, "data": { "description": "", "synonymes": "", "phenotype_datamined": "ORPHA:595 Centronuclear myopathy,ORPHA:607 Nemaline myopathy", "gene_datamined": "HGNC:12403 TTN,HGNC:9752 QDPR", "correlates_with": "MHO:000027 Centralized Nuclei,MHO:000028 Internalized nuclei,MHO:000029 Sub-Sarcolemmal Nuclei,MHO:000070 Increase in Endosymal Collagen", "alternative_language": "Augmentation du Collag\u00e8ne Endosymial", "hex_color": "#17ACC1", "hpo_datamined": "", "image_annotation": false }, "parent": "MHO:000069" }, { "id": "MHO:000004", "text": "Fiber Type 1", "icon": true, "data": { "description": "", "synonymes": "", "phenotype_datamined": "UNCLEAR", "gene_datamined": "N/A", "alternative_language": "Fibre Type 1", "correlates_with": "", "hex_color": "#95C792", "hpo_datamined": "", "image_annotation": false }, "parent": "MHO:000001" }, { "id": "MHO:000006", "text": "Fiber Type 1 Atrophied", "icon": true, "data": { "description": "", "synonymes": "Petite fibre type 1,Small type 1 fiber", "phenotype_datamined": "ORPHA:172976 Congenital myopathy with cores,ORPHA:595 Centronuclear myopathy,ORPHA:607 Nemaline myopathy,UNCLEAR", "gene_datamined": "HGNC:1052 BIN1,HGNC:12403 TTN,HGNC:129 ACTA1,HGNC:7448 MTM1,HGNC:7577 MYH7,HGNC:7720 NEB,HGNC:9752 QDPR,N/A", "correlates_with": "MHO:000006 Fiber Type 1 Atrophied,MHO:000048 Rods", "alternative_language": "Fibre Type 1 Atrophi\u00e9es", "hex_color": "#056F5D", "hpo_datamined": ",HP:0001324 Muscle weakness,HP:0001252 Hypotonia,HP:0001319 Neonatal hypotonia", "image_annotation": false }, "parent": "MHO:000004" }, { "id": "MHO:000007", "text": "Fiber Type 1 Heterogeneous size", "icon": true, "data": { "description": "", "synonymes": "", "phenotype_datamined": "ORPHA:607 Nemaline myopathy,UNCLEAR", "gene_datamined": "HGNC:129 ACTA1,HGNC:7577 MYH7,HGNC:7720 NEB,N/A", "correlates_with": "MHO:000005 Fiber Type 1 Hypertrophic,MHO:000007 Fiber Type 1 Heterogeneous size,MHO:000009 Fiber Type 2 Hypertrophic,MHO:000011 Fiber Type 2 Heterogeneous size", "alternative_language": "Fibre Type 1 Taille h\u00e9t\u00e9rog\u00e8ne", "hex_color": "#EC022F", "hpo_datamined": "", "image_annotation": false }, "parent": "MHO:000004" }, { "id": "MHO:000005", "text": "Fiber Type 1 Hypertrophic", "icon": true, "data": { "description": "", "synonymes": "Large Fiber Type 1,Grande fibre type 1", "phenotype_datamined": "ORPHA:172976 Congenital myopathy with cores,ORPHA:607 Nemaline myopathy,UNCLEAR", "gene_datamined": "HGNC:10483 RYR1,HGNC:129 ACTA1,HGNC:7577 MYH7,HGNC:7720 NEB,N/A", "correlates_with": "MHO:000005 Fiber Type 1 Hypertrophic,MHO:000007 Fiber Type 1 Heterogeneous size,MHO:000009 Fiber Type 2 Hypertrophic,MHO:000011 Fiber Type 2 Heterogeneous size,MHO:000036 Dark clusters", "alternative_language": "Fibre Type 1 Hypertrophiques", "hex_color": "#01910D", "hpo_datamined": "", "image_annotation": false }, "parent": "MHO:000004" }, { "id": "MHO:000008", "text": "Fiber Type 2", "icon": true, "data": { "description": "", "synonymes": "", "phenotype_datamined": "UNCLEAR", "gene_datamined": "N/A", "alternative_language": "Fibre Type 2", "correlates_with": "", "hex_color": "#AEE98A", "hpo_datamined": "", "image_annotation": false }, "parent": "MHO:000001" }, { "id": "MHO:000010", "text": "Fiber Type 2 Atrophied", "icon": true, "data": { "description": "", "synonymes": "Petite fibre type 2,Small type 2 fiber", "phenotype_datamined": "ORPHA:172976 Congenital myopathy with cores,ORPHA:595 Centronuclear myopathy,ORPHA:607 Nemaline myopathy,UNCLEAR", "gene_datamined": "HGNC:10483 RYR1,HGNC:12403 TTN,HGNC:129 ACTA1,HGNC:7577 MYH7,HGNC:7720 NEB,HGNC:9752 QDPR,N/A", "correlates_with": "MHO:000010 Fiber Type 2 Atrophied,MHO:000048 Rods", "alternative_language": "Fibre Type 2 Atrophi\u00e9es", "hex_color": "#E038D2", "hpo_datamined": ",HP:0001324 Muscle weakness,HP:0001252 Hypotonia,HP:0001319 Neonatal hypotonia", "image_annotation": false }, "parent": "MHO:000008" }, { "id": "MHO:000011", "text": "Fiber Type 2 Heterogeneous size", "icon": true, "data": { "description": "", "synonymes": "", "phenotype_datamined": "ORPHA:172976 Congenital myopathy with cores,ORPHA:607 Nemaline myopathy,UNCLEAR", "gene_datamined": "HGNC:10483 RYR1,HGNC:129 ACTA1,HGNC:7577 MYH7,N/A", "alternative_language": "Fibre Type 2 Taille h\u00e9t\u00e9rog\u00e8ne", "correlates_with": "MHO:000005 Fiber Type 1 Hypertrophic,MHO:000007 Fiber Type 1 Heterogeneous size,MHO:000009 Fiber Type 2 Hypertrophic,MHO:000011 Fiber Type 2 Heterogeneous size", "hex_color": "#E155A6", "hpo_datamined": "", "image_annotation": false }, "parent": "MHO:000008" }, { "id": "MHO:000009", "text": "Fiber Type 2 Hypertrophic", "icon": true, "data": { "description": "", "synonymes": "Large Fiber Type 2,Grande fibre type 2", "phenotype_datamined": "ORPHA:172976 Congenital myopathy with cores,ORPHA:595 Centronuclear myopathy,ORPHA:607 Nemaline myopathy,UNCLEAR", "gene_datamined": "HGNC:10483 RYR1,HGNC:129 ACTA1,HGNC:7448 MTM1,HGNC:7577 MYH7,HGNC:7720 NEB,N/A", "correlates_with": "MHO:000005 Fiber Type 1 Hypertrophic,MHO:000007 Fiber Type 1 Heterogeneous size,MHO:000009 Fiber Type 2 Hypertrophic,MHO:000011 Fiber Type 2 Heterogeneous size", "alternative_language": "Fibre Type 2 Hypertrophiques", "hex_color": "#1FD2B6", "hpo_datamined": "", "image_annotation": false }, "parent": "MHO:000008" }, { "id": "MHO:000016", "text": "Fibre Aspect", "icon": true, "data": { "description": "", "synonymes": "", "phenotype_datamined": "", "gene_datamined": "", "alternative_language": "Apsect Fibre", "correlates_with": "", "hex_color": "#C32B1F", "hpo_datamined": "", "image_annotation": false }, "parent": "MHO:000001" }, { "id": "MHO:000020", "text": "Angular", "icon": true, "data": { "description": "", "synonymes": "", "phenotype_datamined": "ORPHA:595 Centronuclear myopathy,ORPHA:607 Nemaline myopathy", "gene_datamined": "HGNC:7448 MTM1,HGNC:7577 MYH7", "alternative_language": "Anguleuse", "correlates_with": "", "hex_color": "#9DD5D8", "hpo_datamined": "", "image_annotation": false }, "parent": "MHO:000016" }, { "id": "MHO:000025", "text": "Annular fibre", "icon": true, "data": { "description": "", "synonymes": "", "phenotype_datamined": "ORPHA:595 Centronuclear myopathy", "gene_datamined": "HGNC:7448 MTM1", "alternative_language": "Fibre annulaire", "correlates_with": "", "hex_color": "#3D0E6A", "hpo_datamined": "", "image_annotation": false }, "parent": "MHO:000016" }, { "id": "MHO:000022", "text": "Fibre segmentation", "icon": true, "data": { "description": "", "synonymes": "", "phenotype_datamined": "ORPHA:172976 Congenital myopathy with cores", "gene_datamined": "HGNC:10483 RYR1", "alternative_language": "Segmentation de fibre", "correlates_with": "", "hex_color": "#875069", "hpo_datamined": "", "image_annotation": false }, "parent": "MHO:000016" }, { "id": "MHO:000019", "text": "Lobulated", "icon": true, "data": { "description": "", "synonymes": "", "phenotype_datamined": "", "gene_datamined": "", "alternative_language": "Lobul\u00e9e", "correlates_with": "", "hex_color": "#88F797", "hpo_datamined": "", "image_annotation": false }, "parent": "MHO:000016" }, { "id": "MHO:000024", "text": "Red-ragged fibers", "icon": true, "data": { "description": "", "synonymes": "", "phenotype_datamined": "", "gene_datamined": "", "alternative_language": "Red-ragged fibers", "correlates_with": "", "hex_color": "#44450E", "hpo_datamined": "", "image_annotation": false }, "parent": "MHO:000016" }, { "id": "MHO:000021", "text": "Rounded edge", "icon": true, "data": { "description": "", "synonymes": "", "phenotype_datamined": "ORPHA:172976 Congenital myopathy with cores,ORPHA:595 Centronuclear myopathy,ORPHA:607 Nemaline myopathy,UNCLEAR", "gene_datamined": "HGNC:10483 RYR1,HGNC:7720 NEB,HGNC:9752 QDPR,N/A", "alternative_language": "Bord arrondis", "correlates_with": "", "hex_color": "#7D3317", "hpo_datamined": "", "image_annotation": false }, "parent": "MHO:000016" }, { "id": "MHO:000018", "text": "Vacuolised bordered", "icon": true, "data": { "description": "", "synonymes": "", "phenotype_datamined": "", "gene_datamined": "", "alternative_language": "Vacuolis\u00e9e bord\u00e9e", "correlates_with": "", "hex_color": "#294D29", "hpo_datamined": "", "image_annotation": false }, "parent": "MHO:000016" }, { "id": "MHO:000023", "text": "Whirlwind", "icon": true, "data": { "description": "", "synonymes": "", "phenotype_datamined": "", "gene_datamined": "", "alternative_language": "Tourbillon", "correlates_with": "", "hex_color": "#026C86", "hpo_datamined": "", "image_annotation": false }, "parent": "MHO:000016" }, { "id": "MHO:000017", "text": "wheel spokes shape", "icon": true, "data": { "description": "", "synonymes": "", "phenotype_datamined": "", "gene_datamined": "", "alternative_language": "En rayon de roue", "correlates_with": "", "hex_color": "#FAE65F", "hpo_datamined": "", "image_annotation": false }, "parent": "MHO:000016" }, { "id": "MHO:000012", "text": "Fibre Size", "icon": true, "data": { "description": "", "synonymes": "", "phenotype_datamined": "", "gene_datamined": "", "alternative_language": "Taille Fibre", "correlates_with": "", "hex_color": "#D0A7B3", "hpo_datamined": "", "image_annotation": false }, "parent": "MHO:000001" }, { "id": "MHO:000014", "text": "Homogeneous size", "icon": true, "data": { "description": "", "synonymes": "", "phenotype_datamined": "", "gene_datamined": "", "alternative_language": "Taille Homog\u00e8ne", "correlates_with": "", "hex_color": "#7A744E", "hpo_datamined": "", "image_annotation": false }, "parent": "MHO:000012" }, { "id": "MHO:000015", "text": "No Topography", "icon": true, "data": { "description": "", "synonymes": "", "phenotype_datamined": "ORPHA:172976 Congenital myopathy with cores,ORPHA:595 Centronuclear myopathy,ORPHA:607 Nemaline myopathy,UNCLEAR", "gene_datamined": "HGNC:10483 RYR1,HGNC:1052 BIN1,HGNC:12403 TTN,HGNC:129 ACTA1,HGNC:7720 NEB", "correlates_with": "MHO:000015 No Topography,MHO:000036 Dark clusters,MHO:000129 Minicores", "alternative_language": "Sans Topographie", "hex_color": "#8EF386", "hpo_datamined": "", "image_annotation": false }, "parent": "MHO:000012" }, { "id": "MHO:000013", "text": "Unequal Size", "icon": true, "data": { "description": "", "synonymes": "different size", "phenotype_datamined": "ORPHA:172976 Congenital myopathy with cores,ORPHA:595 Centronuclear myopathy,ORPHA:607 Nemaline myopathy,UNCLEAR", "gene_datamined": "HGNC:10483 RYR1,HGNC:1052 BIN1,HGNC:12403 TTN,HGNC:129 ACTA1,HGNC:7448 MTM1,HGNC:7577 MYH7,HGNC:7720 NEB,HGNC:9752 QDPR,N/A", "correlates_with": "MHO:000007 Type 1 Heterogeneous size,MHO:000013 Unequal Size", "alternative_language": "Taille In\u00e9gale", "hex_color": "#C8F19D", "hpo_datamined": ",HP:0001324 Muscle weakness,HP:0001252 Hypotonia,HP:0001319 Neonatal hypotonia", "image_annotation": false }, "parent": "MHO:000012" }, { "id": "MHO:000035", "text": "Fuscinophilic material", "icon": true, "data": { "description": "", "synonymes": "", "phenotype_datamined": "", "gene_datamined": "", "alternative_language": "Mat\u00e9riel Fuscinophile", "correlates_with": "", "hex_color": "#0FDCF0", "hpo_datamined": "", "image_annotation": false }, "parent": "MHO:000001" }, { "id": "MHO:000036", "text": "Dark clusters", "icon": true, "data": { "description": "", "synonymes": "dark aggregates,aggr\u00e9gats sombres", "phenotype_datamined": "ORPHA:172976 Congenital myopathy with cores,ORPHA:607 Nemaline myopathy,UNCLEAR", "gene_datamined": "HGNC:10483 RYR1,HGNC:12403 TTN,HGNC:129 ACTA1,HGNC:7720 NEB,N/A", "correlates_with": "MHO:000005 Fiber Type 1 Hypertrophic,MHO:000015 No Topography,MHO:000036 Dark clusters,MHO:000048 Rods,MHO:000151 Sudan Staining: Abornmal (Lipids Overload)", "alternative_language": "Amas sombre", "hex_color": "#84E98A", "hpo_datamined": ",HP:0001324 Muscle weakness,HP:0001252 Hypotonia,HP:0001319 Neonatal hypotonia", "image_annotation": false }, "parent": "MHO:000035" }, { "id": "MHO:000041", "text": "Fuscinophile matrial: Peripherals", "icon": true, "data": { "description": "", "synonymes": "", "phenotype_datamined": "ORPHA:172976 Congenital myopathy with cores,ORPHA:607 Nemaline myopathy", "gene_datamined": "HGNC:10483 RYR1,HGNC:7720 NEB,N/A", "alternative_language": "Mat\u00e9riel Fuscinophile: P\u00e9riph\u00e9riques", "correlates_with": "", "hex_color": "#0749F7", "hpo_datamined": "", "image_annotation": false }, "parent": "MHO:000035" }, { "id": "MHO:000040", "text": "Fuscinophilic material: Centralized", "icon": true, "data": { "description": "", "synonymes": "", "phenotype_datamined": "ORPHA:172976 Congenital myopathy with cores,ORPHA:607 Nemaline myopathy,UNCLEAR", "gene_datamined": "HGNC:10483 RYR1,HGNC:7720 NEB,N/A", "alternative_language": "Mat\u00e9riel Fuscinophile: Centralis\u00e9s", "correlates_with": "", "hex_color": "#690CBE", "hpo_datamined": "", "image_annotation": false }, "parent": "MHO:000035" }, { "id": "MHO:000039", "text": "Fuscinophilic material: Diffused", "icon": true, "data": { "description": "", "synonymes": "", "phenotype_datamined": "", "gene_datamined": "", "alternative_language": "Mat\u00e9riel Fuscinophile: Diffus", "correlates_with": "", "hex_color": "#DA5C8F", "hpo_datamined": "", "image_annotation": false }, "parent": "MHO:000035" }, { "id": "MHO:000037", "text": "Fuscinophilic material: Granular", "icon": true, "data": { "description": "", "synonymes": "", "phenotype_datamined": "ORPHA:172976 Congenital myopathy with cores,ORPHA:607 Nemaline myopathy", "gene_datamined": "HGNC:129 ACTA1,HGNC:7577 MYH7,HGNC:7720 NEB", "alternative_language": "Mat\u00e9riel Fuscinophile: Granuleux", "correlates_with": "", "hex_color": "#D6A94C", "hpo_datamined": "", "image_annotation": false }, "parent": "MHO:000035" }, { "id": "MHO:000044", "text": "Fuscinophilic material: Irregular edges", "icon": true, "data": { "description": "", "synonymes": "", "phenotype_datamined": "ORPHA:607 Nemaline myopathy,UNCLEAR", "gene_datamined": "HGNC:7577 MYH7,N/A", "alternative_language": "Mat\u00e9riel Fuscinophile: Bords irr\u00e9guliers", "correlates_with": "", "hex_color": "#9BC19D", "hpo_datamined": "", "image_annotation": false }, "parent": "MHO:000035" }, { "id": "MHO:000038", "text": "Fuscinophilic material: Radiant", "icon": true, "data": { "description": "", "synonymes": "", "phenotype_datamined": "", "gene_datamined": "", "alternative_language": "Mat\u00e9riel Fuscinophile: Radiant", "correlates_with": "", "hex_color": "#5CBC7D", "hpo_datamined": "", "image_annotation": false }, "parent": "MHO:000035" }, { "id": "MHO:000043", "text": "Fuscinophilic material: Regular edges", "icon": true, "data": { "description": "", "synonymes": "", "phenotype_datamined": "", "gene_datamined": "", "alternative_language": "Mat\u00e9riel Fuscinophile: Bords r\u00e9guliers", "correlates_with": "", "hex_color": "#15B83B", "hpo_datamined": "", "image_annotation": false }, "parent": "MHO:000035" }, { "id": "MHO:000045", "text": "Fuscinophilic material: Rounded", "icon": true, "data": { "description": "", "synonymes": "", "phenotype_datamined": "ORPHA:607 Nemaline myopathy,UNCLEAR", "gene_datamined": "HGNC:7720 NEB,N/A", "alternative_language": "Mat\u00e9riel Fuscinophile: Arrondis", "correlates_with": "", "hex_color": "#7E7B79", "hpo_datamined": "", "image_annotation": false }, "parent": "MHO:000035" }, { "id": "MHO:000042", "text": "Fuscinophilic material: Sub-Sarcolemma", "icon": true, "data": { "description": "", "synonymes": "", "phenotype_datamined": "", "gene_datamined": "", "alternative_language": "Mat\u00e9riel Fuscinophile: Sous-Sarcolemmique", "correlates_with": "", "hex_color": "#462EC7", "hpo_datamined": "", "image_annotation": false }, "parent": "MHO:000035" }, { "id": "MHO:000046", "text": "Purplish appearance", "icon": true, "data": { "description": "", "synonymes": "purplish aspect", "phenotype_datamined": "ORPHA:172976 Congenital myopathy with cores,ORPHA:595 Centronuclear myopathy", "gene_datamined": "HGNC:10483 RYR1", "alternative_language": "Aspect violine", "correlates_with": "", "hex_color": "#1787A1", "hpo_datamined": "", "image_annotation": false }, "parent": "MHO:000035" }, { "id": "MHO:000067", "text": "Inflammatory elements", "icon": true, "data": { "description": "", "synonymes": "", "phenotype_datamined": "", "gene_datamined": "", "alternative_language": "Elements Inflammatoires", "correlates_with": "", "hex_color": "#045BDA", "hpo_datamined": "", "image_annotation": false }, "parent": "MHO:000001" }, { "id": "MHO:000068", "text": "Inflammation", "icon": true, "data": { "description": "", "synonymes": "", "phenotype_datamined": "ORPHA:607 Nemaline myopathy", "gene_datamined": "HGNC:7720 NEB", "correlates_with": "MHO:000068 Inflammation", "alternative_language": "Inflammation", "hex_color": "#233403", "hpo_datamined": "", "image_annotation": false }, "parent": "MHO:000067" }, { "id": "MHO:000176", "text": "Intercellular spaces", "icon": true, "data": { "description": "", "synonymes": "", "phenotype_datamined": "", "gene_datamined": "", "alternative_language": "Espace Intercellulaire", "correlates_with": "", "image_annotation": true, "hex_color": "#031526", "hpo_datamined": "" }, "parent": "MHO:000001" }, { "id": "MHO:000061", "text": "Interstitial alterations and damage", "icon": true, "data": { "description": "", "synonymes": "", "phenotype_datamined": "", "gene_datamined": "", "alternative_language": "Alt\u00e9rations et L\u00e9sions Interstitielles", "correlates_with": "", "hex_color": "#FE7040", "hpo_datamined": "", "image_annotation": false }, "parent": "MHO:000001" }, { "id": "MHO:000065", "text": "Circle the Fibers Completely", "icon": true, "data": { "description": "", "synonymes": "", "phenotype_datamined": "", "gene_datamined": "", "alternative_language": "Entoure Compl\u00e8tement les Fibres", "correlates_with": "", "hex_color": "#F01417", "hpo_datamined": "", "image_annotation": false }, "parent": "MHO:000061" }, { "id": "MHO:000064", "text": "Fatty tissue Increase", "icon": true, "data": { "description": "", "synonymes": "", "phenotype_datamined": "ORPHA:607 Nemaline myopathy", "gene_datamined": "HGNC:129 ACTA1,HGNC:7720 NEB", "alternative_language": "Augmentation Tissu Adipeux", "correlates_with": "", "hex_color": "#D8B91A", "hpo_datamined": "", "image_annotation": false }, "parent": "MHO:000061" }, { "id": "MHO:000063", "text": "Interstitial Connective Tissue Increase", "icon": true, "data": { "description": "", "synonymes": "", "phenotype_datamined": "ORPHA:172976 Congenital myopathy with cores,ORPHA:595 Centronuclear myopathy,ORPHA:607 Nemaline myopathy", "gene_datamined": "HGNC:12403 TTN,HGNC:7720 NEB", "correlates_with": "MHO:000005 Type 1 Hypertrophic (large),MHO:000063 Connective Interstitial Tissue Increase,MHO:000081 Type Uniformity", "alternative_language": "Augmentation Tissu Conjonctif", "hex_color": "#DE050F", "hpo_datamined": "", "image_annotation": false }, "parent": "MHO:000061" }, { "id": "MHO:000062", "text": "Interstitial alterations", "icon": true, "data": { "description": "", "synonymes": "", "phenotype_datamined": "ORPHA:172976 Congenital myopathy with cores", "gene_datamined": "HGNC:10483 RYR1", "correlates_with": "MHO:000062 Interstitial alterations,MHO:000144 PAS Staining: Locally Abnormal (Overload)", "alternative_language": "Alt\u00e9rations Interstitielles", "hex_color": "#659331", "hpo_datamined": "", "image_annotation": false }, "parent": "MHO:000061" }, { "id": "MHO:000066", "text": "Thick band between fascicle", "icon": true, "data": { "description": "", "synonymes": "", "phenotype_datamined": "", "gene_datamined": "", "alternative_language": "Bande \u00e9paisse entre Fascicules", "correlates_with": "", "hex_color": "#63E495", "hpo_datamined": "", "image_annotation": false }, "parent": "MHO:000061" }, { "id": "MHO:000072", "text": "Necklace Fibers", "icon": true, "data": { "description": "", "synonymes": "collier", "phenotype_datamined": "ORPHA:595 Centronuclear myopathy,UNCLEAR", "gene_datamined": "HGNC:7448 MTM1,HGNC:9752 QDPR,N/A", "alternative_language": "Necklace Fibers", "correlates_with": "", "hex_color": "#92A2B9", "hpo_datamined": "", "image_annotation": false }, "parent": "MHO:000001" }, { "id": "MHO:000074", "text": "Necrosis", "icon": true, "data": { "description": "", "synonymes": "", "phenotype_datamined": "ORPHA:607 Nemaline myopathy,UNCLEAR", "gene_datamined": "HGNC:7720 NEB,N/A", "correlates_with": "MHO:000074 Necrosis,MHO:000075 Regeneration", "alternative_language": "N\u00e9crose", "hex_color": "#6669EC", "hpo_datamined": "", "image_annotation": false }, "parent": "MHO:000001" }, { "id": "MHO:000056", "text": "Neuromuscular spindle", "icon": true, "data": { "description": "", "synonymes": "", "phenotype_datamined": "", "gene_datamined": "", "alternative_language": "Fuseau Neuromusculaire", "correlates_with": "", "hex_color": "#AA55FF", "hpo_datamined": "", "image_annotation": false }, "parent": "MHO:000001" }, { "id": "MHO:000057", "text": "Abnormal Neuromuscular Spindle", "icon": true, "data": { "description": "", "synonymes": "", "phenotype_datamined": "UNCLEAR", "gene_datamined": "N/A", "alternative_language": "Fuseau Neuromusculaire Anormal", "correlates_with": "", "hex_color": "#4058B8", "hpo_datamined": "", "image_annotation": false }, "parent": "MHO:000056" }, { "id": "MHO:000026", "text": "Nuclei", "icon": true, "data": { "description": "", "synonymes": "", "phenotype_datamined": "", "gene_datamined": "", "alternative_language": "Aspect Noyaux", "correlates_with": "", "hex_color": "#ed1536", "hpo_datamined": "", "image_annotation": true }, "parent": "MHO:000001" }, { "id": "MHO:000027", "text": "Centralized Nuclei", "icon": true, "data": { "description": "", "synonymes": "", "phenotype_datamined": "ORPHA:172976 Congenital myopathy with cores,ORPHA:595 Centronuclear myopathy,ORPHA:607 Nemaline myopathy,UNCLEAR", "gene_datamined": "HGNC:10483 RYR1,HGNC:1052 BIN1,HGNC:12403 TTN,HGNC:129 ACTA1,HGNC:7448 MTM1,HGNC:7577 MYH7,HGNC:7720 NEB,HGNC:9752 QDPR,N/A", "correlates_with": "MHO:000027 Centralized Nuclei,MHO:000028 Internalized nuclei,MHO:000096 Locally Abnormal ATP Activity (Clear Zone)", "alternative_language": "Noyaux Centralis\u00e9", "hex_color": "#6F7356", "hpo_datamined": ",HP:0001324 Muscle weakness,HP:0001252 Hypotonia,HP:0001319 Neonatal hypotonia", "image_annotation": false }, "parent": "MHO:000026" }, { "id": "MHO:000031", "text": "Increase in the number of nuclei", "icon": true, "data": { "description": "", "synonymes": "", "phenotype_datamined": "ORPHA:595 Centronuclear myopathy,UNCLEAR", "gene_datamined": "HGNC:9752 QDPR,N/A", "correlates_with": "MHO:000027 Centralized Nuclei,MHO:000028 Internalized nuclei,MHO:000031 Increase in the number of nuclei,MHO:000078 Abnormal differentiation", "alternative_language": "Augmentation du Nombre de Noyaux", "hex_color": "#72B750", "hpo_datamined": "", "image_annotation": false }, "parent": "MHO:000026" }, { "id": "MHO:000028", "text": "Internalized nuclei", "icon": true, "data": { "description": "", "synonymes": "", "phenotype_datamined": "ORPHA:172976 Congenital myopathy with cores,ORPHA:595 Centronuclear myopathy,ORPHA:607 Nemaline myopathy,UNCLEAR", "gene_datamined": "HGNC:10483 RYR1,HGNC:12403 TTN,HGNC:129 ACTA1,HGNC:7448 MTM1,HGNC:7577 MYH7,HGNC:9752 QDPR,N/A", "correlates_with": "MHO:000027 Centralized Nuclei,MHO:000028 Internalized nuclei", "alternative_language": "Noyaux Internalis\u00e9", "hex_color": "#11C256", "hpo_datamined": "", "image_annotation": false }, "parent": "MHO:000026" }, { "id": "MHO:000174", "text": "Normal Situation", "icon": true, "data": { "description": "", "synonymes": "position normale", "phenotype_datamined": "ORPHA:607 Nemaline myopathy,UNCLEAR", "gene_datamined": "HGNC:7720 NEB,N/A", "alternative_language": "Situation Normale", "correlates_with": "", "hex_color": "#e621e1", "hpo_datamined": "", "image_annotation": false }, "parent": "MHO:000026" }, { "id": "MHO:000030", "text": "Nuclei with Myotubular Aspects", "icon": true, "data": { "description": "", "synonymes": "aspect myotubulaire,myotubular aspect", "phenotype_datamined": "ORPHA:595 Centronuclear myopathy,UNCLEAR", "gene_datamined": "HGNC:9752 QDPR,N/A", "correlates_with": "MHO:000029 Sub-Sarcolemmal Nuclei,MHO:000030 Nuclei with Myotubular Aspects,MHO:000084 Predominance Fibre Type 2", "alternative_language": "Noyaux \u00e0 Aspects Myotubulaire", "hex_color": "#8C0679", "hpo_datamined": "", "image_annotation": false }, "parent": "MHO:000026" }, { "id": "MHO:000029", "text": "Sub-Sarcolemmal Nuclei", "icon": true, "data": { "description": "", "synonymes": "", "phenotype_datamined": "ORPHA:172976 Congenital myopathy with cores,ORPHA:595 Centronuclear myopathy,UNCLEAR", "gene_datamined": "HGNC:7577 MYH7,HGNC:9752 QDPR,N/A", "correlates_with": "MHO:000027 Centralized Nuclei,MHO:000028 Internalized nuclei,MHO:000029 Sub-Sarcolemmal Nuclei,MHO:000030 Nuclei with Myotubular Aspects,MHO:000070 Increase in Endosymal Collagen,MHO:000138 Abnormal Phospholipase+AMP activity", "alternative_language": "Noyaux Sous-Sarcolemmique", "hex_color": "#9AB613", "hpo_datamined": "", "image_annotation": false }, "parent": "MHO:000026" }, { "id": "MHO:000052", "text": "Pale Zone", "icon": true, "data": { "description": "", "synonymes": "", "phenotype_datamined": "", "gene_datamined": "", "alternative_language": "Zone Claire", "correlates_with": "", "hex_color": "#A0D32E", "hpo_datamined": "", "image_annotation": false }, "parent": "MHO:000001" }, { "id": "MHO:000054", "text": "Central Pale Zone", "icon": true, "data": { "description": "", "synonymes": "", "phenotype_datamined": "ORPHA:607 Nemaline myopathy", "gene_datamined": "HGNC:7720 NEB", "alternative_language": "Zone Claire Centrale", "correlates_with": "", "hex_color": "#DC48F0", "hpo_datamined": "", "image_annotation": false }, "parent": "MHO:000052" }, { "id": "MHO:000055", "text": "Majority of Fibre", "icon": true, "data": { "description": "", "synonymes": "", "phenotype_datamined": "", "gene_datamined": "", "alternative_language": "Majorit\u00e9 de la Fibre", "correlates_with": "", "hex_color": "#AD9F5E", "hpo_datamined": "", "image_annotation": false }, "parent": "MHO:000052" }, { "id": "MHO:000053", "text": "Pale Zone as Peripheral Crescent", "icon": true, "data": { "description": "", "synonymes": "pale zone", "phenotype_datamined": "", "gene_datamined": "", "alternative_language": "Croissant P\u00e9riph\u00e9rique", "correlates_with": "", "hex_color": "#8D3207", "hpo_datamined": "", "image_annotation": false }, "parent": "MHO:000052" }, { "id": "MHO:000073", "text": "Peripheral nail stroke", "icon": true, "data": { "description": "", "synonymes": "coup d'ongle,nail stroke", "phenotype_datamined": "UNCLEAR", "gene_datamined": "N/A", "alternative_language": "Coup d'ongle p\u00e9riph\u00e9rique", "correlates_with": "", "hex_color": "#E90559", "hpo_datamined": "", "image_annotation": false }, "parent": "MHO:000001" }, { "id": "MHO:000032", "text": "Protein inclusions", "icon": true, "data": { "description": "", "synonymes": "", "phenotype_datamined": "", "gene_datamined": "", "alternative_language": "Inclusions prot\u00e9iques", "correlates_with": "", "hex_color": "#9C6361", "hpo_datamined": "", "image_annotation": false }, "parent": "MHO:000001" }, { "id": "MHO:000033", "text": "Centralized Inclusions", "icon": true, "data": { "description": "", "synonymes": "", "phenotype_datamined": "ORPHA:607 Nemaline myopathy,UNCLEAR", "gene_datamined": "HGNC:7720 NEB,N/A", "alternative_language": "Inclusions Centralis\u00e9es", "correlates_with": "", "hex_color": "#02F38D", "hpo_datamined": "", "image_annotation": false }, "parent": "MHO:000032" }, { "id": "MHO:000034", "text": "Peripheral Inclusions", "icon": true, "data": { "description": "", "synonymes": "", "phenotype_datamined": "ORPHA:607 Nemaline myopathy", "gene_datamined": "HGNC:7720 NEB", "alternative_language": "Inclusions P\u00e9riph\u00e9riques", "correlates_with": "", "hex_color": "#D9C462", "hpo_datamined": "", "image_annotation": false }, "parent": "MHO:000032" }, { "id": "MHO:000075", "text": "Regeneration", "icon": true, "data": { "description": "", "synonymes": "", "phenotype_datamined": "UNCLEAR", "gene_datamined": "N/A", "correlates_with": "MHO:000074 Necrosis,MHO:000075 Regeneration", "alternative_language": "R\u00e9g\u00e9n\u00e9ration", "hex_color": "#11BAC8", "hpo_datamined": "", "image_annotation": false }, "parent": "MHO:000001" }, { "id": "MHO:000047", "text": "Rods and Nemaline Bodies", "icon": true, "data": { "description": "", "synonymes": "", "phenotype_datamined": "", "gene_datamined": "", "alternative_language": "B\u00e2tonnets - Rods et Nemaline Bodies", "correlates_with": "", "hex_color": "#D65282", "hpo_datamined": "", "image_annotation": false }, "parent": "MHO:000001" }, { "id": "MHO:000049", "text": "Mini-rods", "icon": true, "data": { "description": "", "synonymes": "minirods", "phenotype_datamined": "", "gene_datamined": "", "alternative_language": "Mini-rods", "correlates_with": "", "hex_color": "#0F25C0", "hpo_datamined": "", "image_annotation": false }, "parent": "MHO:000047" }, { "id": "MHO:000051", "text": "Red Dust", "icon": true, "data": { "description": "", "synonymes": "", "phenotype_datamined": "ORPHA:607 Nemaline myopathy,UNCLEAR", "gene_datamined": "HGNC:7577 MYH7,N/A", "alternative_language": "Poussi\u00e8re rouge", "correlates_with": "", "hex_color": "#351F4E", "hpo_datamined": "", "image_annotation": false }, "parent": "MHO:000047" }, { "id": "MHO:000050", "text": "Red Spike", "icon": true, "data": { "description": "", "synonymes": "rod-like", "phenotype_datamined": "ORPHA:172976 Congenital myopathy with cores,UNCLEAR", "gene_datamined": "HGNC:10483 RYR1,N/A", "alternative_language": "Piquet\u00e9 rouge", "correlates_with": "", "hex_color": "#BCAD10", "hpo_datamined": "", "image_annotation": false }, "parent": "MHO:000047" }, { "id": "MHO:000048", "text": "Rods", "icon": true, "data": { "description": "", "synonymes": "", "phenotype_datamined": "ORPHA:607 Nemaline myopathy,UNCLEAR", "gene_datamined": "HGNC:12403 TTN,HGNC:129 ACTA1,HGNC:7720 NEB,N/A", "correlates_with": "MHO:000006 Fiber Type 1 Atrophied,MHO:000010 Fiber Type 2 Atrophied,MHO:000036 Dark clusters,MHO:000048 Rods,MHO:000151 Sudan Staining: Abornmal (Lipids Overload)", "alternative_language": "Batonnets", "hex_color": "#058775", "hpo_datamined": ",HP:0001324 Muscle weakness,HP:0001252 Hypotonia,HP:0001319 Neonatal hypotonia", "image_annotation": true }, "parent": "MHO:000047" }, { "id": "MHO:000071", "text": "Tubular aggregates", "icon": true, "data": { "description": "", "synonymes": "", "phenotype_datamined": "", "gene_datamined": "", "alternative_language": "Aggr\u00e9gats Tubulaires", "correlates_with": "", "hex_color": "#FB4D7A", "hpo_datamined": "", "image_annotation": false }, "parent": "MHO:000001" }, { "id": "MHO:000097", "text": "Oxidative staining", "icon": true, "data": { "description": "", "synonymes": "", "phenotype_datamined": "", "gene_datamined": "", "alternative_language": "Enzymologie oxydative", "correlates_with": "", "hex_color": "#A494C7", "hpo_datamined": "", "image_annotation": false }, "parent": "#" }, { "id": "MHO:000111", "text": "Activity Repartition", "icon": true, "data": { "description": "", "synonymes": "", "phenotype_datamined": "", "gene_datamined": "", "alternative_language": "R\u00e9partition Activit\u00e9", "correlates_with": "", "hex_color": "#A2BE55", "hpo_datamined": "", "image_annotation": false }, "parent": "MHO:000097" }, { "id": "MHO:000118", "text": "Blurred boundaries", "icon": true, "data": { "description": "", "synonymes": "", "phenotype_datamined": "ORPHA:172976 Congenital myopathy with cores,ORPHA:595 Centronuclear myopathy,ORPHA:607 Nemaline myopathy", "gene_datamined": "HGNC:12403 TTN,HGNC:7577 MYH7,HGNC:7720 NEB", "alternative_language": "Limites floues", "correlates_with": "", "hex_color": "#837158", "hpo_datamined": "", "image_annotation": false }, "parent": "MHO:000111" }, { "id": "MHO:000114", "text": "Central activity", "icon": true, "data": { "description": "", "synonymes": "", "phenotype_datamined": "ORPHA:172976 Congenital myopathy with cores,ORPHA:595 Centronuclear myopathy,ORPHA:607 Nemaline myopathy", "gene_datamined": "HGNC:10483 RYR1,HGNC:12403 TTN,HGNC:7577 MYH7,HGNC:7720 NEB", "alternative_language": "Activit\u00e9 Centrale", "correlates_with": "", "hex_color": "#471D22", "hpo_datamined": "", "image_annotation": false }, "parent": "MHO:000111" }, { "id": "MHO:000113", "text": "Clear zone (pale)", "icon": true, "data": { "description": "", "synonymes": "", "phenotype_datamined": "ORPHA:172976 Congenital myopathy with cores,ORPHA:607 Nemaline myopathy,UNCLEAR", "gene_datamined": "HGNC:10483 RYR1,HGNC:1052 BIN1,HGNC:12403 TTN,HGNC:129 ACTA1,HGNC:7577 MYH7,HGNC:7720 NEB", "alternative_language": "Zone Claire (p\u00e2le)", "correlates_with": "", "hex_color": "#5645F3", "hpo_datamined": "", "image_annotation": false }, "parent": "MHO:000111" }, { "id": "MHO:000116", "text": "Crescent shape", "icon": true, "data": { "description": "", "synonymes": "", "phenotype_datamined": "ORPHA:172976 Congenital myopathy with cores", "gene_datamined": "HGNC:129 ACTA1", "alternative_language": "En Croissant", "correlates_with": "", "hex_color": "#99B212", "hpo_datamined": "", "image_annotation": false }, "parent": "MHO:000111" }, { "id": "MHO:000120", "text": "Dark Peripheral Border", "icon": true, "data": { "description": "", "synonymes": "", "phenotype_datamined": "", "gene_datamined": "", "alternative_language": "Liseret P\u00e9riph\u00e9rique Fonc\u00e9", "correlates_with": "", "hex_color": "#38E141", "hpo_datamined": "", "image_annotation": false }, "parent": "MHO:000111" }, { "id": "MHO:000117", "text": "Net limits", "icon": true, "data": { "description": "", "synonymes": "", "phenotype_datamined": "ORPHA:172976 Congenital myopathy with cores,ORPHA:607 Nemaline myopathy", "gene_datamined": "HGNC:7577 MYH7", "alternative_language": "Limites nettes", "correlates_with": "", "hex_color": "#FBD0B1", "hpo_datamined": "", "image_annotation": false }, "parent": "MHO:000111" }, { "id": "MHO:000115", "text": "Peripheral", "icon": true, "data": { "description": "", "synonymes": "", "phenotype_datamined": "ORPHA:172976 Congenital myopathy with cores", "gene_datamined": "HGNC:10483 RYR1,HGNC:129 ACTA1", "alternative_language": "P\u00e9riph\u00e9rique", "correlates_with": "", "hex_color": "#B4D25B", "hpo_datamined": "", "image_annotation": false }, "parent": "MHO:000111" }, { "id": "MHO:000122", "text": "Peripheral Mitochondrial Accumulation", "icon": true, "data": { "description": "", "synonymes": "", "phenotype_datamined": "UNCLEAR", "gene_datamined": "N/A", "alternative_language": "Accumulation Mitochondries P\u00e9riph\u00e9riques", "correlates_with": "", "hex_color": "#383047", "hpo_datamined": "", "image_annotation": false }, "parent": "MHO:000111" }, { "id": "MHO:000119", "text": "Sub-Sarcolemma dark staining", "icon": true, "data": { "description": "", "synonymes": "", "phenotype_datamined": "", "gene_datamined": "", "alternative_language": "Coloration Fonc\u00e9 Sous-Sarcolemmique", "correlates_with": "", "hex_color": "#34C03B", "hpo_datamined": "", "image_annotation": false }, "parent": "MHO:000111" }, { "id": "MHO:000121", "text": "Uncoloured Inclusion Zone", "icon": true, "data": { "description": "", "synonymes": "", "phenotype_datamined": "ORPHA:607 Nemaline myopathy", "gene_datamined": "HGNC:7720 NEB", "alternative_language": "Zone Inclusion Non Color\u00e9e", "correlates_with": "", "hex_color": "#61CF2C", "hpo_datamined": "", "image_annotation": false }, "parent": "MHO:000111" }, { "id": "MHO:000123", "text": "Core", "icon": true, "data": { "description": "", "synonymes": "", "phenotype_datamined": "ORPHA:172976 Congenital myopathy with cores,ORPHA:607 Nemaline myopathy", "gene_datamined": "HGNC:7577 MYH7", "alternative_language": "Core", "correlates_with": "", "hex_color": "#F24C11", "hpo_datamined": "", "image_annotation": true }, "parent": "MHO:000097" }, { "id": "MHO:000128", "text": "Cores over the whole Section", "icon": true, "data": { "description": "", "synonymes": "", "phenotype_datamined": "ORPHA:172976 Congenital myopathy with cores,UNCLEAR", "gene_datamined": "HGNC:10483 RYR1,HGNC:1052 BIN1,HGNC:12403 TTN,HGNC:7577 MYH7", "alternative_language": "Core sur toute la Section", "correlates_with": "", "hex_color": "#D28A16", "hpo_datamined": "", "image_annotation": false }, "parent": "MHO:000123" }, { "id": "MHO:000127", "text": "Cores with Blurred Boundaries", "icon": true, "data": { "description": "", "synonymes": "", "phenotype_datamined": "ORPHA:172976 Congenital myopathy with cores,UNCLEAR", "gene_datamined": "HGNC:10483 RYR1,HGNC:1052 BIN1,HGNC:12403 TTN,HGNC:7577 MYH7", "alternative_language": "Core \u00e0 Limites Floues", "correlates_with": "", "hex_color": "#74BC84", "hpo_datamined": "", "image_annotation": false }, "parent": "MHO:000123" }, { "id": "MHO:000126", "text": "Cores with Net Limits", "icon": true, "data": { "description": "", "synonymes": "", "phenotype_datamined": "ORPHA:172976 Congenital myopathy with cores,UNCLEAR", "gene_datamined": "HGNC:10483 RYR1,HGNC:1052 BIN1,HGNC:7577 MYH7", "alternative_language": "Core \u00e0 Limites Nettes", "correlates_with": "", "hex_color": "#29024C", "hpo_datamined": "", "image_annotation": false }, "parent": "MHO:000123" }, { "id": "MHO:000129", "text": "Minicores", "icon": true, "data": { "description": "", "synonymes": "", "phenotype_datamined": "ORPHA:172976 Congenital myopathy with cores,UNCLEAR", "gene_datamined": "HGNC:1052 BIN1,HGNC:12403 TTN,N/A", "alternative_language": "Minicores", "correlates_with": "MHO:000015 No Topography,MHO:000129 Minicores", "hex_color": "#8B48D5", "hpo_datamined": "", "image_annotation": false }, "parent": "MHO:000123" }, { "id": "MHO:000124", "text": "Peripheral Cores", "icon": true, "data": { "description": "", "synonymes": "", "phenotype_datamined": "ORPHA:172976 Congenital myopathy with cores,UNCLEAR", "gene_datamined": "HGNC:10483 RYR1,HGNC:1052 BIN1,HGNC:12403 TTN,HGNC:129 ACTA1,HGNC:7577 MYH7", "correlates_with": "MHO:000124 Peripheral Cores,MHO:000125 Single Central Core", "alternative_language": "Core P\u00e9riph\u00e9riques", "hex_color": "#119F16", "hpo_datamined": "", "image_annotation": false }, "parent": "MHO:000123" }, { "id": "MHO:000125", "text": "Single Central Core", "icon": true, "data": { "description": "", "synonymes": "", "phenotype_datamined": "ORPHA:172976 Congenital myopathy with cores,ORPHA:607 Nemaline myopathy,UNCLEAR", "gene_datamined": "HGNC:10483 RYR1,HGNC:1052 BIN1,HGNC:12403 TTN,HGNC:129 ACTA1,HGNC:7577 MYH7", "correlates_with": "MHO:000124 Peripheral Cores,MHO:000125 Single Central Core", "alternative_language": "Core Centraux Uniques", "hex_color": "#02AD6D", "hpo_datamined": "", "image_annotation": false }, "parent": "MHO:000123" }, { "id": "MHO:000098", "text": "Fibre aspect", "icon": true, "data": { "description": "", "synonymes": "", "phenotype_datamined": "", "gene_datamined": "", "alternative_language": "Aspect Fibre", "correlates_with": "", "hex_color": "#82EF87", "hpo_datamined": "", "image_annotation": false }, "parent": "MHO:000097" }, { "id": "MHO:000105", "text": "Core-like alveolus", "icon": true, "data": { "description": "", "synonymes": "", "phenotype_datamined": "ORPHA:172976 Congenital myopathy with cores,ORPHA:595 Centronuclear myopathy,ORPHA:607 Nemaline myopathy,UNCLEAR", "gene_datamined": "HGNC:10483 RYR1,HGNC:1052 BIN1,HGNC:12403 TTN,HGNC:7577 MYH7,HGNC:7720 NEB", "alternative_language": "Alv\u00e9ole Core-like", "correlates_with": "MHO:000105 Core-like alveolus", "hex_color": "#6DA551", "hpo_datamined": "", "image_annotation": false }, "parent": "MHO:000098" }, { "id": "MHO:000100", "text": "Dark circles", "icon": true, "data": { "description": "", "synonymes": "", "phenotype_datamined": "", "gene_datamined": "", "alternative_language": "Cern\u00e9", "correlates_with": "", "hex_color": "#24312E", "hpo_datamined": "", "image_annotation": false }, "parent": "MHO:000098" }, { "id": "MHO:000101", "text": "Lobulation", "icon": true, "data": { "description": "", "synonymes": "", "phenotype_datamined": "", "gene_datamined": "", "alternative_language": "Lobulation", "correlates_with": "", "hex_color": "#C10BD4", "hpo_datamined": "", "image_annotation": false }, "parent": "MHO:000098" }, { "id": "MHO:000102", "text": "Multi-lobulated", "icon": true, "data": { "description": "", "synonymes": "", "phenotype_datamined": "", "gene_datamined": "", "alternative_language": "Multi-lobul\u00e9", "correlates_with": "", "hex_color": "#EAFF29", "hpo_datamined": "", "image_annotation": false }, "parent": "MHO:000098" }, { "id": "MHO:000099", "text": "Myotubular", "icon": true, "data": { "description": "", "synonymes": "", "phenotype_datamined": "", "gene_datamined": "", "alternative_language": "Myotubulaire", "correlates_with": "", "hex_color": "#470E1A", "hpo_datamined": "", "image_annotation": false }, "parent": "MHO:000098" }, { "id": "MHO:000104", "text": "Targettoide aspect", "icon": true, "data": { "description": "", "synonymes": "", "phenotype_datamined": "ORPHA:172976 Congenital myopathy with cores,ORPHA:595 Centronuclear myopathy", "gene_datamined": "HGNC:10483 RYR1,HGNC:7448 MTM1", "alternative_language": "Aspect targ\u00e9toide", "correlates_with": "", "hex_color": "#E13911", "hpo_datamined": "", "image_annotation": false }, "parent": "MHO:000098" }, { "id": "MHO:000103", "text": "wheel spoke shape", "icon": true, "data": { "description": "", "synonymes": "", "phenotype_datamined": "", "gene_datamined": "", "alternative_language": "En rayon de roue", "correlates_with": "", "hex_color": "#1C3A4B", "hpo_datamined": "", "image_annotation": false }, "parent": "MHO:000098" }, { "id": "MHO:000130", "text": "NADH", "icon": true, "data": { "description": "", "synonymes": "", "phenotype_datamined": "", "gene_datamined": "", "alternative_language": "NADH", "correlates_with": "", "hex_color": "#1A6A14", "hpo_datamined": "", "image_annotation": false }, "parent": "MHO:000097" }, { "id": "MHO:000131", "text": "Dark Atrophic Fibre", "icon": true, "data": { "description": "", "synonymes": "", "phenotype_datamined": "ORPHA:172976 Congenital myopathy with cores", "gene_datamined": "HGNC:129 ACTA1", "alternative_language": "Fibre Atrophique Fonc\u00e9e", "correlates_with": "", "hex_color": "#76238F", "hpo_datamined": "", "image_annotation": false }, "parent": "MHO:000130" }, { "id": "MHO:000132", "text": "Sub-Sarcolemma Dark Halo", "icon": true, "data": { "description": "", "synonymes": "", "phenotype_datamined": "", "gene_datamined": "", "alternative_language": "Halo Fonc\u00e9 Sous-Sarcolemmique", "correlates_with": "", "hex_color": "#0C6A5D", "hpo_datamined": "", "image_annotation": false }, "parent": "MHO:000130" }, { "id": "MHO:000106", "text": "Structural Reorganisation", "icon": true, "data": { "description": "", "synonymes": "remaniement structurel", "phenotype_datamined": "UNCLEAR", "gene_datamined": "N/A", "alternative_language": "Remaniement Structurel", "correlates_with": "", "hex_color": "#AEF02F", "hpo_datamined": "", "image_annotation": false }, "parent": "MHO:000097" }, { "id": "MHO:000109", "text": "Irregular Intermyofibrillar Network", "icon": true, "data": { "description": "", "synonymes": "", "phenotype_datamined": "UNCLEAR", "gene_datamined": "N/A", "correlates_with": "MHO:000010 Type 2 Atrophied (small),MHO:000107 Structural Disorganisation,MHO:000109 Irregular Intermyofibrillar Network", "alternative_language": "R\u00e9seau Intermyofibrillaire Irr\u00e9gulier", "hex_color": "#1F4FDC", "hpo_datamined": "", "image_annotation": false }, "parent": "MHO:000106" }, { "id": "MHO:000110", "text": "Rimmed Sarcolemma", "icon": true, "data": { "description": "", "synonymes": "", "phenotype_datamined": "UNCLEAR", "gene_datamined": "N/A", "alternative_language": "Rimmed Sarcolemma", "correlates_with": "", "hex_color": "#8FEB53", "hpo_datamined": "", "image_annotation": false }, "parent": "MHO:000106" }, { "id": "MHO:000107", "text": "Structural Disorganisation", "icon": true, "data": { "description": "", "synonymes": "remaniement structurel", "phenotype_datamined": "ORPHA:172976 Congenital myopathy with cores,ORPHA:595 Centronuclear myopathy,ORPHA:607 Nemaline myopathy,UNCLEAR", "gene_datamined": "HGNC:10483 RYR1,HGNC:1052 BIN1,HGNC:12403 TTN,HGNC:129 ACTA1,HGNC:7448 MTM1,HGNC:7577 MYH7,HGNC:7720 NEB,HGNC:9752 QDPR,N/A", "correlates_with": "MHO:000005 Type 1 Hypertrophic (large),MHO:000081 Type Uniformity,MHO:000107 Structural Disorganisation,MHO:000109 Irregular Intermyofibrillar Network", "alternative_language": "D\u00e9sorganisation structurelle", "hex_color": "#AE2884", "hpo_datamined": "", "image_annotation": false }, "parent": "MHO:000106" }, { "id": "MHO:000108", "text": "Sub-sarcolemmal lesion", "icon": true, "data": { "description": "", "synonymes": "", "phenotype_datamined": "", "gene_datamined": "", "alternative_language": "L\u00e9sion Sous-Sarcolemmique", "correlates_with": "", "hex_color": "#F133BB", "hpo_datamined": "", "image_annotation": false }, "parent": "MHO:000106" } ]