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| { | |
| "title": "Diseases, Mouse and Fish models compared to Pfeiffer Syndrome (OMIM:101600)", | |
| "xAxis": [ | |
| { | |
| "groupId": "OMIM", | |
| "groupName": "Diseases", | |
| "entities": [ | |
| { | |
| "id": "OMIM:602849", | |
| "label": "Muenke syndrome", | |
| "phenotypes": [ | |
| { | |
| "id": "HP:0009466", | |
| "term": null | |
| }, | |
| { | |
| "id": "HP:0005819", | |
| "term": null | |
| }, | |
| { | |
| "id": "HP:0001831", | |
| "term": null | |
| }, | |
| { | |
| "id": "HP:0005048", | |
| "term": null | |
| }, | |
| { | |
| "id": "HP:0001357", | |
| "term": null | |
| }, | |
| { | |
| "id": "HP:0001249", | |
| "term": null | |
| }, | |
| { | |
| "id": "HP:0001241", | |
| "term": null | |
| }, | |
| { | |
| "id": "HP:0001263", | |
| "term": null | |
| }, | |
| { | |
| "id": "HP:0001156", | |
| "term": null | |
| }, | |
| { | |
| "id": "HP:0010579", | |
| "term": null | |
| }, | |
| { | |
| "id": "HP:0010230", | |
| "term": null | |
| }, | |
| { | |
| "id": "HP:0010055", | |
| "term": null | |
| }, | |
| { | |
| "id": "HP:0008368", | |
| "term": null | |
| }, | |
| { | |
| "id": "HP:0004440", | |
| "term": null | |
| }, | |
| { | |
| "id": "HP:0000508", | |
| "term": null | |
| }, | |
| { | |
| "id": "HP:0000520", | |
| "term": null | |
| }, | |
| { | |
| "id": "HP:0000494", | |
| "term": null | |
| }, | |
| { | |
| "id": "HP:0000407", | |
| "term": null | |
| }, | |
| { | |
| "id": "HP:000031", | |
| "term": null | |
| }, | |
| { | |
| "id": "HP:0000294", | |
| "term": null | |
| }, | |
| { | |
| "id": "HP:0000248", | |
| "term": null | |
| }, | |
| { | |
| "id": "HP:0000256", | |
| "term": null | |
| }, | |
| { | |
| "id": "HP:0000272", | |
| "term": null | |
| }, | |
| { | |
| "id": "HP:0000218", | |
| "term": null | |
| }, | |
| { | |
| "id": "HP:0000238", | |
| "term": null | |
| }, | |
| { | |
| "id": "HP:0000174", | |
| "term": null | |
| }, | |
| { | |
| "id": "HP:0003795", | |
| "term": null | |
| }, | |
| { | |
| "id": "HP:0030084", | |
| "term": null | |
| }, | |
| { | |
| "id": "HP:0011800", | |
| "term": null | |
| }, | |
| { | |
| "id": "HP:0002516", | |
| "term": null | |
| }, | |
| { | |
| "id": "HP:0006193", | |
| "term": null | |
| }, | |
| { | |
| "id": "HP:0100543", | |
| "term": null | |
| } | |
| ], | |
| "score": { | |
| "metric": "Monarch compare score", | |
| "score": 73, | |
| "rank": 0 | |
| }, | |
| "info": [ | |
| { | |
| "id": "Disease: ", | |
| "value": "Muenke syndrome", | |
| "href": "http://beta.monarchinitiative.org/disease/OMIM_602849" | |
| }, | |
| { | |
| "id": "Source: ", | |
| "value": "OMIM", | |
| "href": null | |
| } | |
| ] | |
| }, | |
| { | |
| "id": "OMIM:101200", | |
| "label": "Apert Syndrome", | |
| "phenotypes": [ | |
| { | |
| "id": "HP:0009466", | |
| "term": null | |
| }, | |
| { | |
| "id": "HP:0005819", | |
| "term": null | |
| }, | |
| { | |
| "id": "HP:0001831", | |
| "term": null | |
| }, | |
| { | |
| "id": "HP:0005048", | |
| "term": null | |
| }, | |
| { | |
| "id": "HP:0001357", | |
| "term": null | |
| }, | |
| { | |
| "id": "HP:0001249", | |
| "term": null | |
| }, | |
| { | |
| "id": "HP:0001241", | |
| "term": null | |
| }, | |
| { | |
| "id": "HP:0001263", | |
| "term": null | |
| }, | |
| { | |
| "id": "HP:0001156", | |
| "term": null | |
| }, | |
| { | |
| "id": "HP:0010579", | |
| "term": null | |
| }, | |
| { | |
| "id": "HP:0010230", | |
| "term": null | |
| }, | |
| { | |
| "id": "HP:0010055", | |
| "term": null | |
| }, | |
| { | |
| "id": "HP:0008368", | |
| "term": null | |
| }, | |
| { | |
| "id": "HP:0004440", | |
| "term": null | |
| }, | |
| { | |
| "id": "HP:0000508", | |
| "term": null | |
| }, | |
| { | |
| "id": "HP:0000520", | |
| "term": null | |
| }, | |
| { | |
| "id": "HP:0000494", | |
| "term": null | |
| }, | |
| { | |
| "id": "HP:0000407", | |
| "term": null | |
| }, | |
| { | |
| "id": "HP:000031", | |
| "term": null | |
| }, | |
| { | |
| "id": "HP:0000294", | |
| "term": null | |
| }, | |
| { | |
| "id": "HP:0000248", | |
| "term": null | |
| }, | |
| { | |
| "id": "HP:0000256", | |
| "term": null | |
| }, | |
| { | |
| "id": "HP:0000272", | |
| "term": null | |
| }, | |
| { | |
| "id": "HP:0000218", | |
| "term": null | |
| }, | |
| { | |
| "id": "HP:0000238", | |
| "term": null | |
| }, | |
| { | |
| "id": "HP:0000174", | |
| "term": null | |
| }, | |
| { | |
| "id": "HP:0003795", | |
| "term": null | |
| }, | |
| { | |
| "id": "HP:0030084", | |
| "term": null | |
| }, | |
| { | |
| "id": "HP:0011800", | |
| "term": null | |
| }, | |
| { | |
| "id": "HP:0002516", | |
| "term": null | |
| }, | |
| { | |
| "id": "HP:0006193", | |
| "term": null | |
| }, | |
| { | |
| "id": "HP:0100543", | |
| "term": null | |
| } | |
| ], | |
| "score": { | |
| "metric": "Monarch compare score", | |
| "score": 73, | |
| "rank": 0 | |
| }, | |
| "info": [ | |
| { | |
| "id": "Disease: ", | |
| "value": "Apert syndrome", | |
| "href": "http://beta.monarchinitiative.org/disease/OMIM_101200" | |
| }, | |
| { | |
| "id": "Source: ", | |
| "value": "OMIM", | |
| "href": null | |
| } | |
| ] | |
| } | |
| ] | |
| }, | |
| { | |
| "groupId": "IMPC", | |
| "groupName": "Mus musculus models", | |
| "entities": [ | |
| { | |
| "id": "11042", | |
| "label": "Satb2<tm1Rug>/Satb2<tm1Rug>", | |
| "phenotypes": [ | |
| { | |
| "id": "MP:0000088", | |
| "term": null | |
| }, | |
| { | |
| "id": "MP:0000097", | |
| "term": null | |
| }, | |
| { | |
| "id": "MP:0000102", | |
| "term": null | |
| }, | |
| { | |
| "id": "MP:0000107", | |
| "term": null | |
| }, | |
| { | |
| "id": "MP:0000130", | |
| "term": null | |
| }, | |
| { | |
| "id": "MP:0000438", | |
| "term": null | |
| }, | |
| { | |
| "id": "MP:0000455", | |
| "term": null | |
| }, | |
| { | |
| "id": "MP:0000458", | |
| "term": null | |
| }, | |
| { | |
| "id": "MP:0000556", | |
| "term": null | |
| }, | |
| { | |
| "id": "MP:0002260", | |
| "term": null | |
| }, | |
| { | |
| "id": "MP:0002639", | |
| "term": null | |
| }, | |
| { | |
| "id": "MP:0002820", | |
| "term": null | |
| }, | |
| { | |
| "id": "MP:0002896", | |
| "term": null | |
| }, | |
| { | |
| "id": "MP:0003056", | |
| "term": null | |
| }, | |
| { | |
| "id": "MP:0003755", | |
| "term": null | |
| }, | |
| { | |
| "id": "MP:0003795", | |
| "term": null | |
| }, | |
| { | |
| "id": "MP:0004791", | |
| "term": null | |
| }, | |
| { | |
| "id": "MP:0005006", | |
| "term": null | |
| }, | |
| { | |
| "id": "MP:0005170", | |
| "term": null | |
| }, | |
| { | |
| "id": "MP:0005272", | |
| "term": null | |
| }, | |
| { | |
| "id": "MP:0006337", | |
| "term": null | |
| }, | |
| { | |
| "id": "MP:0008271", | |
| "term": null | |
| }, | |
| { | |
| "id": "MP:0009888", | |
| "term": null | |
| }, | |
| { | |
| "id": "MP:0009890", | |
| "term": null | |
| }, | |
| { | |
| "id": "MP:0009907", | |
| "term": null | |
| }, | |
| { | |
| "id": "MP:0009914", | |
| "term": null | |
| }, | |
| { | |
| "id": "MP:0009917", | |
| "term": null | |
| }, | |
| { | |
| "id": "MP:0011089", | |
| "term": null | |
| } | |
| ], | |
| "score": { | |
| "metric": "Phenodigm score", | |
| "score": 68.72, | |
| "rank": 0 | |
| }, | |
| "info": [ | |
| { | |
| "id": "Source: ", | |
| "value": "MGI", | |
| "href": null | |
| }, | |
| { | |
| "id": "Genotype: ", | |
| "value": "<a href=\"http://informatics.jax.org/accession/MGI:3692768\">Satb2<sup>tm1Rug</sup></a>/<a href=\"http://informatics.jax.org/accession/MGI:3692768\">Satb2<sup>tm1Rug</sup></a>", | |
| "href": null | |
| }, | |
| { | |
| "id": "Background: ", | |
| "value": "Not Specified", | |
| "href": null | |
| }, | |
| { | |
| "id": "Gene: ", | |
| "value": "MGI:2679336", | |
| "href": "/data/genes/MGI:2679336" | |
| }, | |
| { | |
| "id": "Phenodigm score: ", | |
| "value": "68.72", | |
| "href": null | |
| }, | |
| { | |
| "id": "Observed phenotypes: ", | |
| "value": "", | |
| "href": null | |
| }, | |
| { | |
| "id": "", | |
| "value": "short mandible", | |
| "href": "/data/phenotypes/MP:0000088" | |
| }, | |
| { | |
| "id": "", | |
| "value": "short maxilla", | |
| "href": "/data/phenotypes/MP:0000097" | |
| }, | |
| { | |
| "id": "", | |
| "value": "abnormal nasal bone morphology", | |
| "href": "/data/phenotypes/MP:0000102" | |
| }, | |
| { | |
| "id": "", | |
| "value": "abnormal frontal bone morphology", | |
| "href": "/data/phenotypes/MP:0000107" | |
| }, | |
| { | |
| "id": "", | |
| "value": "abnormal trabecular bone morphology", | |
| "href": "/data/phenotypes/MP:0000130" | |
| }, | |
| { | |
| "id": "", | |
| "value": "abnormal cranium morphology", | |
| "href": "/data/phenotypes/MP:0000438" | |
| }, | |
| { | |
| "id": "", | |
| "value": "abnormal maxilla morphology", | |
| "href": "/data/phenotypes/MP:0000455" | |
| }, | |
| { | |
| "id": "", | |
| "value": "abnormal mandible morphology", | |
| "href": "/data/phenotypes/MP:0000458" | |
| }, | |
| { | |
| "id": "", | |
| "value": "abnormal hindlimb morphology", | |
| "href": "/data/phenotypes/MP:0000556" | |
| }, | |
| { | |
| "id": "", | |
| "value": "abnormal thyroid cartilage morphology", | |
| "href": "/data/phenotypes/MP:0002260" | |
| }, | |
| { | |
| "id": "", | |
| "value": "micrognathia", | |
| "href": "/data/phenotypes/MP:0002639" | |
| }, | |
| { | |
| "id": "", | |
| "value": "abnormal premaxilla morphology", | |
| "href": "/data/phenotypes/MP:0002820" | |
| }, | |
| { | |
| "id": "", | |
| "value": "abnormal bone mineralization", | |
| "href": "/data/phenotypes/MP:0002896" | |
| }, | |
| { | |
| "id": "", | |
| "value": "abnormal hyoid bone morphology", | |
| "href": "/data/phenotypes/MP:0003056" | |
| }, | |
| { | |
| "id": "", | |
| "value": "abnormal palate morphology", | |
| "href": "/data/phenotypes/MP:0003755" | |
| }, | |
| { | |
| "id": "", | |
| "value": "abnormal bone structure", | |
| "href": "/data/phenotypes/MP:0003795" | |
| }, | |
| { | |
| "id": "", | |
| "value": "absent lower incisors", | |
| "href": "/data/phenotypes/MP:0004791" | |
| }, | |
| { | |
| "id": "", | |
| "value": "abnormal osteoblast physiology", | |
| "href": "/data/phenotypes/MP:0005006" | |
| }, | |
| { | |
| "id": "", | |
| "value": "cleft upper lip", | |
| "href": "/data/phenotypes/MP:0005170" | |
| }, | |
| { | |
| "id": "", | |
| "value": "abnormal temporal bone morphology", | |
| "href": "/data/phenotypes/MP:0005272" | |
| }, | |
| { | |
| "id": "", | |
| "value": "abnormal first pharyngeal arch morphology", | |
| "href": "/data/phenotypes/MP:0006337" | |
| }, | |
| { | |
| "id": "", | |
| "value": "abnormal bone ossification", | |
| "href": "/data/phenotypes/MP:0008271" | |
| }, | |
| { | |
| "id": "", | |
| "value": "palatal shelves fail to meet at midline", | |
| "href": "/data/phenotypes/MP:0009888" | |
| }, | |
| { | |
| "id": "", | |
| "value": "cleft secondary palate", | |
| "href": "/data/phenotypes/MP:0009890" | |
| }, | |
| { | |
| "id": "", | |
| "value": "decreased tongue size", | |
| "href": "/data/phenotypes/MP:0009907" | |
| }, | |
| { | |
| "id": "", | |
| "value": "abnormal hyoid bone lesser horn morphology", | |
| "href": "/data/phenotypes/MP:0009914" | |
| }, | |
| { | |
| "id": "", | |
| "value": "abnormal hyoid bone body morphology", | |
| "href": "/data/phenotypes/MP:0009917" | |
| }, | |
| { | |
| "id": "", | |
| "value": "complete perinatal lethality", | |
| "href": "/data/phenotypes/MP:0011089" | |
| } | |
| ] | |
| }, | |
| { | |
| "id": "10977", | |
| "label": "Satb2<tm1(cre)Vit>/Satb2<tm1(cre)Vit>", | |
| "phenotypes": [ | |
| { | |
| "id": "MP:0000111", | |
| "term": null | |
| }, | |
| { | |
| "id": "MP:0000125", | |
| "term": null | |
| }, | |
| { | |
| "id": "MP:0000433", | |
| "term": null | |
| }, | |
| { | |
| "id": "MP:0000454", | |
| "term": null | |
| }, | |
| { | |
| "id": "MP:0000547", | |
| "term": null | |
| }, | |
| { | |
| "id": "MP:0002081", | |
| "term": null | |
| }, | |
| { | |
| "id": "MP:0002639", | |
| "term": null | |
| }, | |
| { | |
| "id": "MP:0002689", | |
| "term": null | |
| }, | |
| { | |
| "id": "MP:0003056", | |
| "term": null | |
| }, | |
| { | |
| "id": "MP:0004726", | |
| "term": null | |
| }, | |
| { | |
| "id": "MP:0004871", | |
| "term": null | |
| }, | |
| { | |
| "id": "MP:0009524", | |
| "term": null | |
| }, | |
| { | |
| "id": "MP:0009907", | |
| "term": null | |
| } | |
| ], | |
| "score": { | |
| "metric": "Phenodigm score", | |
| "score": 59.07, | |
| "rank": 1 | |
| }, | |
| "info": [ | |
| { | |
| "id": "Source: ", | |
| "value": "MGI", | |
| "href": null | |
| }, | |
| { | |
| "id": "Genotype: ", | |
| "value": "<a href=\"http://informatics.jax.org/accession/MGI:3695425\">Satb2<sup>tm1(cre)Vit</sup></a>/<a href=\"http://informatics.jax.org/accession/MGI:3695425\">Satb2<sup>tm1(cre)Vit</sup></a>", | |
| "href": null | |
| }, | |
| { | |
| "id": "Background: ", | |
| "value": "involves: C57BL/6", | |
| "href": null | |
| }, | |
| { | |
| "id": "Gene: ", | |
| "value": "MGI:2679336", | |
| "href": "/data/genes/MGI:2679336" | |
| }, | |
| { | |
| "id": "Phenodigm score: ", | |
| "value": "59.07", | |
| "href": null | |
| }, | |
| { | |
| "id": "Observed phenotypes: ", | |
| "value": "", | |
| "href": null | |
| }, | |
| { | |
| "id": "", | |
| "value": "cleft palate", | |
| "href": "/data/phenotypes/MP:0000111" | |
| }, | |
| { | |
| "id": "", | |
| "value": "absent incisors", | |
| "href": "/data/phenotypes/MP:0000125" | |
| }, | |
| { | |
| "id": "", | |
| "value": "microcephaly", | |
| "href": "/data/phenotypes/MP:0000433" | |
| }, | |
| { | |
| "id": "", | |
| "value": "abnormal jaw morphology", | |
| "href": "/data/phenotypes/MP:0000454" | |
| }, | |
| { | |
| "id": "", | |
| "value": "short limbs", | |
| "href": "/data/phenotypes/MP:0000547" | |
| }, | |
| { | |
| "id": "", | |
| "value": "perinatal lethality", | |
| "href": "/data/phenotypes/MP:0002081" | |
| }, | |
| { | |
| "id": "", | |
| "value": "micrognathia", | |
| "href": "/data/phenotypes/MP:0002639" | |
| }, | |
| { | |
| "id": "", | |
| "value": "abnormal molar morphology", | |
| "href": "/data/phenotypes/MP:0002689" | |
| }, | |
| { | |
| "id": "", | |
| "value": "abnormal hyoid bone morphology", | |
| "href": "/data/phenotypes/MP:0003056" | |
| }, | |
| { | |
| "id": "", | |
| "value": "abnormal nasal capsule morphology", | |
| "href": "/data/phenotypes/MP:0004726" | |
| }, | |
| { | |
| "id": "", | |
| "value": "premaxilla hypoplasia", | |
| "href": "/data/phenotypes/MP:0004871" | |
| }, | |
| { | |
| "id": "", | |
| "value": "absent submandibular gland", | |
| "href": "/data/phenotypes/MP:0009524" | |
| }, | |
| { | |
| "id": "", | |
| "value": "decreased tongue size", | |
| "href": "/data/phenotypes/MP:0009907" | |
| } | |
| ] | |
| }, | |
| { | |
| "id": "10978", | |
| "label": "Satb2<tm1(cre)Vit>/Satb2<+>", | |
| "phenotypes": [ | |
| { | |
| "id": "MP:0000111", | |
| "term": null | |
| }, | |
| { | |
| "id": "MP:0000433", | |
| "term": null | |
| }, | |
| { | |
| "id": "MP:0000445", | |
| "term": null | |
| }, | |
| { | |
| "id": "MP:0000454", | |
| "term": null | |
| }, | |
| { | |
| "id": "MP:0004726", | |
| "term": null | |
| }, | |
| { | |
| "id": "MP:0004871", | |
| "term": null | |
| }, | |
| { | |
| "id": "MP:0005358", | |
| "term": null | |
| }, | |
| { | |
| "id": "MP:0009880", | |
| "term": null | |
| }, | |
| { | |
| "id": "MP:0011110", | |
| "term": null | |
| } | |
| ], | |
| "score": { | |
| "metric": "Phenodigm score", | |
| "score": 56.13, | |
| "rank": 2 | |
| }, | |
| "info": [ | |
| { | |
| "id": "Source: ", | |
| "value": "MGI", | |
| "href": null | |
| }, | |
| { | |
| "id": "Genotype: ", | |
| "value": "<a href=\"http://informatics.jax.org/accession/MGI:3695425\">Satb2<sup>tm1(cre)Vit</sup></a>/<a href=\"http://informatics.jax.org/accession/MGI:3695425\">Satb2<sup>+</sup></a>", | |
| "href": null | |
| }, | |
| { | |
| "id": "Background: ", | |
| "value": "involves: C57BL/6", | |
| "href": null | |
| }, | |
| { | |
| "id": "Gene: ", | |
| "value": "MGI:2679336", | |
| "href": "/data/genes/MGI:2679336" | |
| }, | |
| { | |
| "id": "Phenodigm score: ", | |
| "value": "56.13", | |
| "href": null | |
| }, | |
| { | |
| "id": "Observed phenotypes: ", | |
| "value": "", | |
| "href": null | |
| }, | |
| { | |
| "id": "", | |
| "value": "cleft palate", | |
| "href": "/data/phenotypes/MP:0000111" | |
| }, | |
| { | |
| "id": "", | |
| "value": "microcephaly", | |
| "href": "/data/phenotypes/MP:0000433" | |
| }, | |
| { | |
| "id": "", | |
| "value": "short snout", | |
| "href": "/data/phenotypes/MP:0000445" | |
| }, | |
| { | |
| "id": "", | |
| "value": "abnormal jaw morphology", | |
| "href": "/data/phenotypes/MP:0000454" | |
| }, | |
| { | |
| "id": "", | |
| "value": "abnormal nasal capsule morphology", | |
| "href": "/data/phenotypes/MP:0004726" | |
| }, | |
| { | |
| "id": "", | |
| "value": "premaxilla hypoplasia", | |
| "href": "/data/phenotypes/MP:0004871" | |
| }, | |
| { | |
| "id": "", | |
| "value": "abnormal incisor morphology", | |
| "href": "/data/phenotypes/MP:0005358" | |
| }, | |
| { | |
| "id": "", | |
| "value": "microstomia", | |
| "href": "/data/phenotypes/MP:0009880" | |
| }, | |
| { | |
| "id": "", | |
| "value": "partial preweaning lethality", | |
| "href": "/data/phenotypes/MP:0011110" | |
| } | |
| ] | |
| } | |
| ] | |
| }, | |
| { | |
| "groupId": "ZFIN", | |
| "groupName": "Danio rerio models", | |
| "entities": [ | |
| { | |
| "id": "ZFIN:ZDB-GENE-040901-1", | |
| "label": "furina", | |
| "phenotypes": [ | |
| { | |
| "id": "ZP:0005834", | |
| "term": null | |
| }, | |
| { | |
| "id": "ZP:0005832", | |
| "term": null | |
| }, | |
| { | |
| "id": "ZP:0005334", | |
| "term": null | |
| }, | |
| { | |
| "id": "ZP:0005097", | |
| "term": null | |
| }, | |
| { | |
| "id": "ZP:0005098", | |
| "term": null | |
| }, | |
| { | |
| "id": "ZP:0005099", | |
| "term": null | |
| }, | |
| { | |
| "id": "ZP:0000895", | |
| "term": null | |
| }, | |
| { | |
| "id": "ZP:0000894", | |
| "term": null | |
| }, | |
| { | |
| "id": "ZP:0000893", | |
| "term": null | |
| }, | |
| { | |
| "id": "ZP:0000892", | |
| "term": null | |
| }, | |
| { | |
| "id": "ZP:0000896", | |
| "term": null | |
| }, | |
| { | |
| "id": "ZP:0000891", | |
| "term": null | |
| }, | |
| { | |
| "id": "ZP:0000881", | |
| "term": null | |
| }, | |
| { | |
| "id": "ZP:0000880", | |
| "term": null | |
| }, | |
| { | |
| "id": "ZP:0000882", | |
| "term": null | |
| }, | |
| { | |
| "id": "ZP:0000935", | |
| "term": null | |
| }, | |
| { | |
| "id": "ZP:0000916", | |
| "term": null | |
| }, | |
| { | |
| "id": "ZP:0000910", | |
| "term": null | |
| }, | |
| { | |
| "id": "ZP:0000908", | |
| "term": null | |
| }, | |
| { | |
| "id": "ZP:0000909", | |
| "term": null | |
| }, | |
| { | |
| "id": "ZP:0000411", | |
| "term": null | |
| }, | |
| { | |
| "id": "MP:0011110", | |
| "term": null | |
| }, | |
| { | |
| "id": "ZP:0006948", | |
| "term": null | |
| }, | |
| { | |
| "id": "ZP:0006953", | |
| "term": null | |
| }, | |
| { | |
| "id": "ZP:0006952", | |
| "term": null | |
| }, | |
| { | |
| "id": "ZP:0006950", | |
| "term": null | |
| }, | |
| { | |
| "id": "ZP:0006951", | |
| "term": null | |
| }, | |
| { | |
| "id": "ZP:0000057", | |
| "term": null | |
| }, | |
| { | |
| "id": "ZP:0000064", | |
| "term": null | |
| }, | |
| { | |
| "id": "ZP:0000095", | |
| "term": null | |
| }, | |
| { | |
| "id": "ZP:0000041", | |
| "term": null | |
| }, | |
| { | |
| "id": "MP:0011110", | |
| "term": null | |
| }, | |
| { | |
| "id": "MP:0011110", | |
| "term": null | |
| }, | |
| { | |
| "id": "ZP:0000043", | |
| "term": null | |
| }, | |
| { | |
| "id": "ZP:0000212", | |
| "term": null | |
| }, | |
| { | |
| "id": "ZP:0000235", | |
| "term": null | |
| }, | |
| { | |
| "id": "ZP:0007030", | |
| "term": null | |
| }, | |
| { | |
| "id": "ZP:0004969", | |
| "term": null | |
| }, | |
| { | |
| "id": "ZP:0001464", | |
| "term": null | |
| }, | |
| { | |
| "id": "ZP:0005424", | |
| "term": null | |
| }, | |
| { | |
| "id": "ZP:0005423", | |
| "term": null | |
| }, | |
| { | |
| "id": "ZP:0002890", | |
| "term": null | |
| }, | |
| { | |
| "id": "ZP:0006382", | |
| "term": null | |
| }, | |
| { | |
| "id": "ZP:0006947", | |
| "term": null | |
| }, | |
| { | |
| "id": "ZP:0004819", | |
| "term": null | |
| }, | |
| { | |
| "id": "ZP:0004669", | |
| "term": null | |
| }, | |
| { | |
| "id": "ZP:0004670", | |
| "term": null | |
| }, | |
| { | |
| "id": "ZP:0000872", | |
| "term": null | |
| }, | |
| { | |
| "id": "ZP:0000924", | |
| "term": null | |
| }, | |
| { | |
| "id": "ZP:0000926", | |
| "term": null | |
| }, | |
| { | |
| "id": "ZP:0000920", | |
| "term": null | |
| }, | |
| { | |
| "id": "ZP:0006946", | |
| "term": null | |
| }, | |
| { | |
| "id": "ZP:0000911", | |
| "term": null | |
| }, | |
| { | |
| "id": "ZP:0000936", | |
| "term": null | |
| }, | |
| { | |
| "id": "ZP:0001969", | |
| "term": null | |
| }, | |
| { | |
| "id": "ZP:0006949", | |
| "term": null | |
| }, | |
| { | |
| "id": "ZP:0007760", | |
| "term": null | |
| }, | |
| { | |
| "id": "ZP:0003788", | |
| "term": null | |
| }, | |
| { | |
| "id": "ZP:0000776", | |
| "term": null | |
| }, | |
| { | |
| "id": "ZP:0015316", | |
| "term": null | |
| }, | |
| { | |
| "id": "ZP:0000107", | |
| "term": null | |
| }, | |
| { | |
| "id": "ZP:0000222", | |
| "term": null | |
| }, | |
| { | |
| "id": "ZP:0000454", | |
| "term": null | |
| }, | |
| { | |
| "id": "ZP:0000460", | |
| "term": null | |
| }, | |
| { | |
| "id": "ZP:0000458", | |
| "term": null | |
| }, | |
| { | |
| "id": "ZP:0000586", | |
| "term": null | |
| }, | |
| { | |
| "id": "ZP:0000473", | |
| "term": null | |
| }, | |
| { | |
| "id": "ZP:0001721", | |
| "term": null | |
| }, | |
| { | |
| "id": "ZP:0002202", | |
| "term": null | |
| }, | |
| { | |
| "id": "ZP:0007027", | |
| "term": null | |
| } | |
| ], | |
| "score": { | |
| "metric": "Monarch score", | |
| "score": 40, | |
| "rank": 0 | |
| }, | |
| "info": [ | |
| { | |
| "id": "Source: ", | |
| "value": "ZFIN", | |
| "href": null | |
| }, | |
| { | |
| "id": "Genotype: ", | |
| "value": "<a title=\"ZFIN:ZDB-FISH-150901-28273 (go to the page for WT; furina<MO1-furina>)\" href=\"http://beta.monarchinitiative.org/genotype/ZFIN:ZDB-FISH-150901-28273\">WT; furina<MO1-furina></a>", | |
| "href": null | |
| } | |
| ] | |
| } | |
| ] | |
| } | |
| ], | |
| "yAxis": [ | |
| { | |
| "groupId": "0", | |
| "groupName": "Disease", | |
| "entities": [ | |
| { | |
| "id": "OMIM:101600", | |
| "label": " Pfeiffer Syndrome", | |
| "phenotypes": [ | |
| { | |
| "id": "HP:0000006", | |
| "term": "Autosomal dominant inheritance" | |
| }, | |
| { | |
| "id": "HP:0000174", | |
| "term": "Abnormality of the palate" | |
| }, | |
| { | |
| "id": "HP:0000194", | |
| "term": "Open mouth" | |
| }, | |
| { | |
| "id": "HP:0000218", | |
| "term": "High palate" | |
| }, | |
| { | |
| "id": "HP:0000238", | |
| "term": "Hydrocephalus" | |
| }, | |
| { | |
| "id": "HP:0000244", | |
| "term": "Brachyturricephaly" | |
| }, | |
| { | |
| "id": "HP:0000272", | |
| "term": "Malar flattening" | |
| }, | |
| { | |
| "id": "HP:0000303", | |
| "term": "Mandibular prognathia" | |
| }, | |
| { | |
| "id": "HP:0000316", | |
| "term": "Hypertelorism" | |
| }, | |
| { | |
| "id": "HP:0000322", | |
| "term": "Short philtrum" | |
| }, | |
| { | |
| "id": "HP:0000324", | |
| "term": "Facial asymmetry" | |
| }, | |
| { | |
| "id": "HP:0000327", | |
| "term": "Hypoplasia of the maxilla" | |
| }, | |
| { | |
| "id": "HP:0000348", | |
| "term": "High forehead" | |
| }, | |
| { | |
| "id": "HP:0000431", | |
| "term": "Wide nasal bridge" | |
| }, | |
| { | |
| "id": "HP:0000452", | |
| "term": "Choanal stenosis" | |
| }, | |
| { | |
| "id": "HP:0000453", | |
| "term": "Choanal atresia" | |
| }, | |
| { | |
| "id": "HP:0000470", | |
| "term": "Short neck" | |
| }, | |
| { | |
| "id": "HP:0000486", | |
| "term": "Strabismus" | |
| }, | |
| { | |
| "id": "HP:0000494", | |
| "term": "Downslanted palpebral fissures" | |
| }, | |
| { | |
| "id": "HP:0000508", | |
| "term": "Ptosis" | |
| }, | |
| { | |
| "id": "HP:0000586", | |
| "term": "Shallow orbits" | |
| }, | |
| { | |
| "id": "HP:0000678", | |
| "term": "Dental crowding" | |
| }, | |
| { | |
| "id": "HP:0001156", | |
| "term": "Brachydactyly syndrome" | |
| }, | |
| { | |
| "id": "HP:0001249", | |
| "term": "Intellectual disability" | |
| }, | |
| { | |
| "id": "HP:0002308", | |
| "term": "Arnold-Chiari malformation" | |
| }, | |
| { | |
| "id": "HP:0002676", | |
| "term": "Cloverleaf skull" | |
| }, | |
| { | |
| "id": "HP:0002780", | |
| "term": "Bronchomalacia" | |
| }, | |
| { | |
| "id": "HP:0003041", | |
| "term": "Humeroradial synostosis" | |
| }, | |
| { | |
| "id": "HP:0003070", | |
| "term": "Elbow ankylosis" | |
| }, | |
| { | |
| "id": "HP:0003196", | |
| "term": "Short nose" | |
| }, | |
| { | |
| "id": "HP:0003272", | |
| "term": "Abnormality of the hip bone" | |
| }, | |
| { | |
| "id": "HP:0003307", | |
| "term": "Hyperlordosis" | |
| }, | |
| { | |
| "id": "HP:0003795", | |
| "term": "Short middle phalanx of toe" | |
| }, | |
| { | |
| "id": "HP:0004209", | |
| "term": "Clinodactyly of the 5th finger" | |
| }, | |
| { | |
| "id": "HP:0004322", | |
| "term": "Short stature" | |
| }, | |
| { | |
| "id": "HP:0004440", | |
| "term": "Coronal craniosynostosis" | |
| }, | |
| { | |
| "id": "HP:0005048", | |
| "term": "Synostosis of carpal bones" | |
| }, | |
| { | |
| "id": "HP:0005280", | |
| "term": "Depressed nasal bridge" | |
| }, | |
| { | |
| "id": "HP:0005347", | |
| "term": "Cartilaginous trachea" | |
| }, | |
| { | |
| "id": "HP:0006101", | |
| "term": "Finger syndactyly" | |
| }, | |
| { | |
| "id": "HP:0006110", | |
| "term": "Shortening of all middle phalanges of the fingers" | |
| }, | |
| { | |
| "id": "HP:0009602", | |
| "term": "Abnormality of thumb phalanx" | |
| }, | |
| { | |
| "id": "HP:0009773", | |
| "term": "Symphalangism affecting the phalanges of the hand" | |
| }, | |
| { | |
| "id": "HP:0010055", | |
| "term": "Broad hallux" | |
| }, | |
| { | |
| "id": "HP:0010669", | |
| "term": "Hypoplasia of the zygomatic bone" | |
| }, | |
| { | |
| "id": "HP:0011304", | |
| "term": "Broad thumb" | |
| } | |
| ], | |
| "score": null, | |
| "info": [ | |
| { | |
| "id": "Disease: ", | |
| "value": "Pfeiffer syndrome", | |
| "href": "http://beta.monarchinitiative.org/disease/OMIM_101600" | |
| }, | |
| { | |
| "id": "Source: ", | |
| "value": "OMIM", | |
| "href": null | |
| } | |
| ] | |
| } | |
| ] | |
| } | |
| ] | |
| } |
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