ETFB

Author: pnrobinson

notebooks/ETFB/ETFB_MADD_individuals.json

@@ -0,0 +1,270 @@
+{
+  "cohortType": "mendelian",
+  "diseaseList": [
+    {
+      "diseaseId": "OMIM:231680",
+      "diseaseLabel": "Glutaric acidemia IIB",
+      "modeOfInheritanceList": [
+        {
+          "hpoId": "HP:0000007",
+          "hpoLabel": "Autosomal recessive inheritance",
+          "citation": "PMID:7912128"
+        }
+      ],
+      "geneTranscriptList": [
+        {
+          "hgncId": "HGNC:3482",
+          "geneSymbol": "ETFB",
+          "transcript": "NM_001985.3"
+        }
+      ]
+    }
+  ],
+  "hpoHeaders": [
+    {
+      "hpoLabel": "Micrognathia",
+      "hpoId": "HP:0000347"
+    },
+    {
+      "hpoLabel": "Hypotonia",
+      "hpoId": "HP:0001252"
+    },
+    {
+      "hpoLabel": "External genital hypoplasia",
+      "hpoId": "HP:0003241"
+    },
+    {
+      "hpoLabel": "Elevated urine suberic acid level",
+      "hpoId": "HP:0033213"
+    },
+    {
+      "hpoLabel": "Elevated urine fumaric acid level",
+      "hpoId": "HP:0034648"
+    },
+    {
+      "hpoLabel": "Ethylmalonic aciduria",
+      "hpoId": "HP:0003219"
+    },
+    {
+      "hpoLabel": "Glutaric aciduria",
+      "hpoId": "HP:0003150"
+    },
+    {
+      "hpoLabel": "Elevated urinary adipic acid",
+      "hpoId": "HP:6001114"
+    },
+    {
+      "hpoLabel": "Abnormal urine sebacic acid concentration",
+      "hpoId": "HP:0500251"
+    },
+    {
+      "hpoLabel": "Oliguria",
+      "hpoId": "HP:0100520"
+    },
+    {
+      "hpoLabel": "Polycystic kidney dysplasia",
+      "hpoId": "HP:0000113"
+    },
+    {
+      "hpoLabel": "Redundant neck skin",
+      "hpoId": "HP:0005989"
+    },
+    {
+      "hpoLabel": "Fetal distress",
+      "hpoId": "HP:0025116"
+    },
+    {
+      "hpoLabel": "Oligohydramnios",
+      "hpoId": "HP:0001562"
+    },
+    {
+      "hpoLabel": "Hyperammonemia",
+      "hpoId": "HP:0001987"
+    },
+    {
+      "hpoLabel": "Hypoglycemia",
+      "hpoId": "HP:0001943"
+    },
+    {
+      "hpoLabel": "Metabolic acidosis",
+      "hpoId": "HP:0001942"
+    },
+    {
+      "hpoLabel": "Pulmonary hypoplasia",
+      "hpoId": "HP:0002089"
+    },
+    {
+      "hpoLabel": "Low-set ears",
+      "hpoId": "HP:0000369"
+    },
+    {
+      "hpoLabel": "Cardiomyopathy",
+      "hpoId": "HP:0001638"
+    },
+    {
+      "hpoLabel": "Hypertrophic cardiomyopathy",
+      "hpoId": "HP:0001639"
+    },
+    {
+      "hpoLabel": "Cardiomegaly",
+      "hpoId": "HP:0001640"
+    },
+    {
+      "hpoLabel": "Cavum septum pellucidum",
+      "hpoId": "HP:0002389"
+    },
+    {
+      "hpoLabel": "Abdominal distention",
+      "hpoId": "HP:0003270"
+    },
+    {
+      "hpoLabel": "Sweaty foot-like odor",
+      "hpoId": "HP:6001063"
+    }
+  ],
+  "rows": [
+    {
+      "individualData": {
+        "pmid": "PMID:27081516",
+        "title": "A novel ETFB mutation in a patient with glutaric aciduria type II.",
+        "individualId": "patient",
+        "comment": "",
+        "ageOfOnset": "Second trimester onset",
+        "ageAtLastEncounter": "P6D",
+        "deceased": "yes",
+        "sex": "F"
+      },
+      "diseaseIdList": [
+        "OMIM:231680"
+      ],
+      "alleleCountMap": {
+        "c143_145del_ETFB_NM_001985v3": 2
+      },
+      "hpoData": [
+        {
+          "type": "OnsetAge",
+          "data": "Congenital onset"
+        },
+        {
+          "type": "Observed"
+        },
+        {
+          "type": "OnsetAge",
+          "data": "Congenital onset"
+        },
+        {
+          "type": "OnsetAge",
+          "data": "P1D"
+        },
+        {
+          "type": "OnsetAge",
+          "data": "P1D"
+        },
+        {
+          "type": "OnsetAge",
+          "data": "P1D"
+        },
+        {
+          "type": "OnsetAge",
+          "data": "P1D"
+        },
+        {
+          "type": "OnsetAge",
+          "data": "P1D"
+        },
+        {
+          "type": "OnsetAge",
+          "data": "P1D"
+        },
+        {
+          "type": "Observed"
+        },
+        {
+          "type": "OnsetAge",
+          "data": "Second trimester onset"
+        },
+        {
+          "type": "OnsetAge",
+          "data": "Congenital onset"
+        },
+        {
+          "type": "OnsetAge",
+          "data": "Third trimester onset"
+        },
+        {
+          "type": "OnsetAge",
+          "data": "Third trimester onset"
+        },
+        {
+          "type": "Observed"
+        },
+        {
+          "type": "Observed"
+        },
+        {
+          "type": "Observed"
+        },
+        {
+          "type": "OnsetAge",
+          "data": "Congenital onset"
+        },
+        {
+          "type": "OnsetAge",
+          "data": "Congenital onset"
+        },
+        {
+          "type": "Na"
+        },
+        {
+          "type": "OnsetAge",
+          "data": "P3D"
+        },
+        {
+          "type": "OnsetAge",
+          "data": "P3D"
+        },
+        {
+          "type": "Observed"
+        },
+        {
+          "type": "OnsetAge",
+          "data": "Congenital onset"
+        },
+        {
+          "type": "OnsetAge",
+          "data": "P1D"
+        }
+      ]
+    }
+  ],
+  "hgvsVariants": {
+    "c143_145del_ETFB_NM_001985v3": {
+      "assembly": "hg38",
+      "chr": "chr19",
+      "position": 51354220,
+      "refAllele": "GCCT",
+      "altAllele": "G",
+      "symbol": "ETFB",
+      "hgncId": "HGNC:3482",
+      "hgvs": "c.143_145del",
+      "transcript": "NM_001985.3",
+      "gHgvs": "NC_000019.10:g.51354226_51354228del",
+      "pHgvs": "NP_001976.1:p.(Glu48del)",
+      "variantKey": "c143_145del_ETFB_NM_001985v3"
+    }
+  },
+  "structuralVariants": {},
+  "phetoolsSchemaVersion": "0.2",
+  "hpoVersion": "2025-11-24",
+  "cohortAcronym": "MADD",
+  "curationHistory": [
+    {
+      "orcid": "0000-0002-0736-9199",
+      "date": "2025-01-09"
+    },
+    {
+      "orcid": "0000-0002-0736-9199",
+      "date": "2025-11-28"
+    }
+  ]
+}