Frontend Disorder Request
:param request:
:param disorder_id: primary key of disorder
:returns a JSON or HTML serialization for a disorder
:raises HTTP404 if no disorder found
GET /api/v2/disorder/978?format=api
{
"name": "MT-TK-related Mitochondrial tRNA(Lys) deficiency",
"name_alt1": null,
"name_alt2": null,
"abbr": "MITTK",
"gene_sym": "MT-TK",
"chr_local": null,
"aff_prot": "Mitochondrial tRNA(Lys)",
"omim_no": "590060",
"subtype": "idiopathic",
"hgnc_gene_sym": "MT-TK",
"hgnc_gene_name": "",
"ncbi_gene": null,
"uniprot": null,
"kegg": null,
"treatability": "unknown",
"gene_reviews": null,
"prevalence": null,
"orphacode": "225",
"nosology_iem_code": "IEM0542",
"icimd_nosology_subgroup_code": "Disorders of mtDNA-encoded tRNA and rRNA",
"icimd_nosology_disorder_num": "6.2.13.01",
"inheritance": "Mitochondrial",
"wiki_pathways": [],
"symptom_specs": {
"clinical": {
"Cardiomyopathy": {
"neonatal": "",
"infancy": "",
"childhood": "",
"adolescence": "+",
"adulthood": "+",
"was_char": false,
"symptom": {
"name": "Cardiomyopathy",
"lab_name": "Cardiomyopathy",
"systems": [
"Cardiovascular"
],
"biochemical_test": null,
"hmdb": "",
"systems_ids": [
2
],
"is_lab": false
}
},
"Dementia": {
"neonatal": "",
"infancy": "",
"childhood": "",
"adolescence": "+",
"adulthood": "+",
"was_char": false,
"symptom": {
"name": "Dementia",
"lab_name": "Dementia",
"systems": [
"Neurologic",
"Neurologic - Development"
],
"biochemical_test": null,
"hmdb": null,
"systems_ids": [
3,
69
],
"is_lab": false
}
},
"Hearing loss": {
"neonatal": "",
"infancy": "",
"childhood": "",
"adolescence": "+",
"adulthood": "+",
"was_char": false,
"symptom": {
"name": "Hearing loss",
"lab_name": "Hearing loss",
"systems": [
"Ear"
],
"biochemical_test": null,
"hmdb": "",
"systems_ids": [
15
],
"is_lab": false
}
}
},
"clinicalchar": {
"Ataxia": {
"neonatal": "",
"infancy": "",
"childhood": "",
"adolescence": "+",
"adulthood": "+",
"was_char": true,
"symptom": {
"name": "Ataxia",
"lab_name": "Ataxia",
"systems": [
"Neurologic",
"Neurologic - Cerebellar",
"Neurologic - Movement"
],
"biochemical_test": null,
"hmdb": null,
"systems_ids": [
3,
66,
70
],
"is_lab": false
}
},
"Epilepsy, generalized": {
"neonatal": null,
"infancy": null,
"childhood": null,
"adolescence": "+",
"adulthood": "++",
"was_char": true,
"symptom": {
"name": "Epilepsy, generalized",
"lab_name": "Epilepsy, generalized",
"systems": [
"Neurologic",
"Neurologic - Seizures"
],
"biochemical_test": null,
"hmdb": null,
"systems_ids": [
3,
72
],
"is_lab": false
}
},
"Myoclonic epilepsy": {
"neonatal": "",
"infancy": "",
"childhood": "",
"adolescence": "+",
"adulthood": "+++",
"was_char": true,
"symptom": {
"name": "Myoclonic epilepsy",
"lab_name": "Myoclonic epilepsy",
"systems": [
"Neurologic",
"Neurologic - Seizures"
],
"biochemical_test": null,
"hmdb": null,
"systems_ids": [
3,
72
],
"is_lab": false
}
},
"Myopathy": {
"neonatal": "",
"infancy": "",
"childhood": "",
"adolescence": "+",
"adulthood": "++",
"was_char": true,
"symptom": {
"name": "Myopathy",
"lab_name": "Myopathy",
"systems": [
"Muscular"
],
"biochemical_test": null,
"hmdb": null,
"systems_ids": [
25
],
"is_lab": false
}
},
"Ragged red fibers": {
"neonatal": null,
"infancy": null,
"childhood": null,
"adolescence": "↑",
"adulthood": "↑↑",
"was_char": true,
"symptom": {
"name": "Ragged red fibers",
"lab_name": "Ragged red fibers",
"systems": [
"Muscular"
],
"biochemical_test": null,
"hmdb": null,
"systems_ids": [
25
],
"is_lab": false
}
}
},
"biochemical": {
"Enzyme testing": {
"Multiple oxidative phosphorylation enzymes (MUS)": {
"neonatal": null,
"infancy": null,
"childhood": null,
"adolescence": "↓",
"adulthood": "↓↓",
"was_char": false,
"symptom": {
"name": "Multiple oxidative phosphorylation enzymes (MUS)",
"lab_name": "Multiple oxidative phosphorylation enzymes (MUS)",
"systems": [
"Laboratory findings"
],
"biochemical_test": "Enzyme testing",
"hmdb": null,
"systems_ids": [
5
],
"is_lab": true
}
}
},
"Routine tests": {
"Lactate (CSF)": {
"neonatal": null,
"infancy": null,
"childhood": null,
"adolescence": "↑",
"adulthood": "↑↑",
"was_char": true,
"symptom": {
"name": "Lactate (CSF)",
"lab_name": "Lactate (CSF)",
"systems": [
"Laboratory findings"
],
"biochemical_test": "Routine tests",
"hmdb": "HMDB0001311",
"systems_ids": [
5
],
"is_lab": true
}
},
"Lactate (P)": {
"neonatal": null,
"infancy": null,
"childhood": null,
"adolescence": "↑",
"adulthood": "↑↑",
"was_char": true,
"symptom": {
"name": "Lactate (P)",
"lab_name": "Lactate (P)",
"systems": [
"Laboratory findings"
],
"biochemical_test": "Routine tests",
"hmdb": "HMDB0001311",
"systems_ids": [
5
],
"is_lab": true
}
}
},
"Specific tests": {
"Cytochrome C oxidase (MUS)": {
"neonatal": null,
"infancy": null,
"childhood": null,
"adolescence": "↓",
"adulthood": "↓",
"was_char": true,
"symptom": {
"name": "Cytochrome C oxidase (MUS)",
"lab_name": "Cytochrome C oxidase (MUS)",
"systems": [
"Laboratory findings"
],
"biochemical_test": "Specific tests",
"hmdb": null,
"systems_ids": [
5
],
"is_lab": true
}
}
}
}
},
"educational_documents": [],
"disorder_treatments": [],
"disorder_resources": []
}