TGFB1

Author: pnrobinson

notebooks/TGFB1/TGFB1_CAEND1_individuals.json

@@ -0,0 +1,188 @@
+{
+  "cohortType": "mendelian",
+  "diseaseList": [
+    {
+      "diseaseId": "OMIM:131300",
+      "diseaseLabel": "Camurati-Engelmann disease",
+      "modeOfInheritanceList": [
+        {
+          "hpoId": "HP:0000006",
+          "hpoLabel": "Autosomal dominant inheritance",
+          "citation": "PMID:10973241"
+        }
+      ],
+      "geneTranscriptList": [
+        {
+          "hgncId": "HGNC:11766",
+          "geneSymbol": "TGFB1",
+          "transcript": "NM_000660.7"
+        }
+      ]
+    }
+  ],
+  "hpoHeaders": [
+    {
+      "hpoLabel": "Elevated circulating alkaline phosphatase concentration",
+      "hpoId": "HP:0003155"
+    },
+    {
+      "hpoLabel": "Hypocalcemia",
+      "hpoId": "HP:0002901"
+    },
+    {
+      "hpoLabel": "Proptosis",
+      "hpoId": "HP:0000520"
+    },
+    {
+      "hpoLabel": "Ptosis",
+      "hpoId": "HP:0000508"
+    },
+    {
+      "hpoLabel": "Prominent forehead",
+      "hpoId": "HP:0011220"
+    },
+    {
+      "hpoLabel": "Cortical thickening of long bone diaphyses",
+      "hpoId": "HP:0005791"
+    },
+    {
+      "hpoLabel": "Narrowing of medullary canal",
+      "hpoId": "HP:0032458"
+    },
+    {
+      "hpoLabel": "Humeral cortical thickening",
+      "hpoId": "HP:0003868"
+    },
+    {
+      "hpoLabel": "Hyperostosis",
+      "hpoId": "HP:0100774"
+    },
+    {
+      "hpoLabel": "Shoulder pain",
+      "hpoId": "HP:0030834"
+    },
+    {
+      "hpoLabel": "Bone pain",
+      "hpoId": "HP:0002653"
+    },
+    {
+      "hpoLabel": "Waddling gait",
+      "hpoId": "HP:0002515"
+    },
+    {
+      "hpoLabel": "Abnormal circulating creatinine concentration",
+      "hpoId": "HP:0012100"
+    },
+    {
+      "hpoLabel": "Cognitive impairment",
+      "hpoId": "HP:0100543"
+    },
+    {
+      "hpoLabel": "Abnormal EKG",
+      "hpoId": "HP:0003115"
+    }
+  ],
+  "rows": [
+    {
+      "individualData": {
+        "pmid": "PMID:30034812",
+        "title": "Camurati-Engelmann disease: a case report from sub-Saharan Africa",
+        "individualId": "patient",
+        "comment": "na",
+        "ageOfOnset": "P20Y",
+        "ageAtLastEncounter": "P35Y",
+        "deceased": "no",
+        "sex": "F"
+      },
+      "diseaseIdList": [
+        "OMIM:131300"
+      ],
+      "alleleCountMap": {
+        "c652CtoT_TGFB1_NM_000660v7": 1
+      },
+      "hpoData": [
+        {
+          "type": "OnsetAge",
+          "data": "P35Y"
+        },
+        {
+          "type": "OnsetAge",
+          "data": "P35Y"
+        },
+        {
+          "type": "OnsetAge",
+          "data": "P20Y"
+        },
+        {
+          "type": "Observed"
+        },
+        {
+          "type": "Observed"
+        },
+        {
+          "type": "OnsetAge",
+          "data": "P35Y"
+        },
+        {
+          "type": "OnsetAge",
+          "data": "P35Y"
+        },
+        {
+          "type": "OnsetAge",
+          "data": "P35Y"
+        },
+        {
+          "type": "OnsetAge",
+          "data": "P35Y"
+        },
+        {
+          "type": "OnsetAge",
+          "data": "P20Y"
+        },
+        {
+          "type": "OnsetAge",
+          "data": "P20Y"
+        },
+        {
+          "type": "OnsetAge",
+          "data": "P35Y"
+        },
+        {
+          "type": "Excluded"
+        },
+        {
+          "type": "Excluded"
+        },
+        {
+          "type": "Excluded"
+        }
+      ]
+    }
+  ],
+  "hgvsVariants": {
+    "c652CtoT_TGFB1_NM_000660v7": {
+      "assembly": "hg38",
+      "chr": "chr19",
+      "position": 41342230,
+      "refAllele": "G",
+      "altAllele": "A",
+      "symbol": "TGFB1",
+      "hgncId": "HGNC:11766",
+      "hgvs": "c.652C>T",
+      "transcript": "NM_000660.7",
+      "gHgvs": "NC_000019.10:g.41342230G>A",
+      "pHgvs": "NP_000651.3:p.(Arg218Cys)",
+      "variantKey": "c652CtoT_TGFB1_NM_000660v7"
+    }
+  },
+  "structuralVariants": {},
+  "phetoolsSchemaVersion": "0.2",
+  "hpoVersion": "2025-11-24",
+  "cohortAcronym": "CAEND1",
+  "curationHistory": [
+    {
+      "orcid": "0000-0002-0736-9199",
+      "date": "2025-01-09"
+    }
+  ]
+}