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/943?format=api
{
"name": "MPV17-related Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)",
"name_alt1": "Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)",
"name_alt2": "Navajo neurohepatopathy",
"abbr": "MTDPS6",
"gene_sym": "MPV17",
"chr_local": "2p23.3",
"aff_prot": null,
"omim_no": "256810",
"subtype": "idiopathic",
"hgnc_gene_sym": "MPV17",
"hgnc_gene_name": "",
"ncbi_gene": null,
"uniprot": null,
"kegg": null,
"treatability": "unknown",
"gene_reviews": null,
"prevalence": null,
"orphacode": "255229",
"nosology_iem_code": "IEM0494",
"icimd_nosology_subgroup_code": "Disorders of mitochondrial nucleotide pool maintenance",
"icimd_nosology_disorder_num": "9.1.04.01",
"inheritance": "Autosomal Recessive",
"wiki_pathways": [],
"symptom_specs": {
"clinical": {
"Cholestasis": {
"neonatal": "+++",
"infancy": "+++",
"childhood": "+",
"adolescence": "+",
"adulthood": null,
"was_char": false,
"symptom": {
"name": "Cholestasis",
"lab_name": "Cholestasis",
"systems": [
"Digestive",
"Digestive-Biliary"
],
"biochemical_test": null,
"hmdb": null,
"systems_ids": [
14,
76
],
"is_lab": false
}
},
"Cholestasis, intrahepatic": {
"neonatal": "+++",
"infancy": "+++",
"childhood": "",
"adolescence": "",
"adulthood": "",
"was_char": false,
"symptom": {
"name": "Cholestasis, intrahepatic",
"lab_name": "Cholestasis, intrahepatic",
"systems": [
"Digestive",
"Digestive-Biliary"
],
"biochemical_test": null,
"hmdb": null,
"systems_ids": [
14,
76
],
"is_lab": false
}
},
"Developmental delay": {
"neonatal": "+++",
"infancy": "+++",
"childhood": null,
"adolescence": null,
"adulthood": null,
"was_char": false,
"symptom": {
"name": "Developmental delay",
"lab_name": "Developmental delay",
"systems": [
"Neurologic",
"Neurologic - Development"
],
"biochemical_test": null,
"hmdb": null,
"systems_ids": [
3,
69
],
"is_lab": false
}
},
"Gastrointestinal dysmotility": {
"neonatal": "±",
"infancy": "±",
"childhood": null,
"adolescence": null,
"adulthood": null,
"was_char": false,
"symptom": {
"name": "Gastrointestinal dysmotility",
"lab_name": "Gastrointestinal dysmotility",
"systems": [
"Digestive"
],
"biochemical_test": null,
"hmdb": "",
"systems_ids": [
14
],
"is_lab": false
}
},
"Liver carcinoma, hepatocellular, hepatoblastoma": {
"neonatal": null,
"infancy": null,
"childhood": null,
"adolescence": null,
"adulthood": "±",
"was_char": false,
"symptom": {
"name": "Liver carcinoma, hepatocellular, hepatoblastoma",
"lab_name": "Liver carcinoma, hepatocellular, hepatoblastoma",
"systems": [
"Digestive",
"Tumoral"
],
"biochemical_test": null,
"hmdb": null,
"systems_ids": [
14,
24
],
"is_lab": false
}
},
"Myopathy": {
"neonatal": "",
"infancy": "",
"childhood": "",
"adolescence": "",
"adulthood": "+",
"was_char": false,
"symptom": {
"name": "Myopathy",
"lab_name": "Myopathy",
"systems": [
"Muscular"
],
"biochemical_test": null,
"hmdb": null,
"systems_ids": [
25
],
"is_lab": false
}
},
"Ophthalmoplegia": {
"neonatal": "",
"infancy": "",
"childhood": "",
"adolescence": "",
"adulthood": "+",
"was_char": false,
"symptom": {
"name": "Ophthalmoplegia",
"lab_name": "Ophthalmoplegia",
"systems": [
"Eye",
"Eye-Oculomotor"
],
"biochemical_test": null,
"hmdb": null,
"systems_ids": [
16,
85
],
"is_lab": false
}
},
"Perinatal death": {
"neonatal": "+++",
"infancy": "++",
"childhood": "+",
"adolescence": "+",
"adulthood": "+",
"was_char": false,
"symptom": {
"name": "Perinatal death",
"lab_name": "Perinatal death",
"systems": [
"Other"
],
"biochemical_test": null,
"hmdb": null,
"systems_ids": [
7
],
"is_lab": false
}
},
"Ptosis of eyelid": {
"neonatal": "",
"infancy": "",
"childhood": "",
"adolescence": "",
"adulthood": "+",
"was_char": false,
"symptom": {
"name": "Ptosis of eyelid",
"lab_name": "Ptosis of eyelid",
"systems": [
"Eye"
],
"biochemical_test": null,
"hmdb": "",
"systems_ids": [
16
],
"is_lab": false
}
},
"Renal tubulopathy": {
"neonatal": "±",
"infancy": "±",
"childhood": "",
"adolescence": "",
"adulthood": "",
"was_char": false,
"symptom": {
"name": "Renal tubulopathy",
"lab_name": "Renal tubulopathy",
"systems": [
"Renal"
],
"biochemical_test": null,
"hmdb": "",
"systems_ids": [
12
],
"is_lab": false
}
},
"Ulcers": {
"neonatal": null,
"infancy": null,
"childhood": null,
"adolescence": "±",
"adulthood": "±",
"was_char": false,
"symptom": {
"name": "Ulcers",
"lab_name": "Ulcers",
"systems": [
"Dermatological"
],
"biochemical_test": null,
"hmdb": null,
"systems_ids": [
8
],
"is_lab": false
}
}
},
"clinicalchar": {
"Failure to thrive": {
"neonatal": "+++",
"infancy": "+++",
"childhood": null,
"adolescence": null,
"adulthood": null,
"was_char": true,
"symptom": {
"name": "Failure to thrive",
"lab_name": "Failure to thrive",
"systems": [
"Other"
],
"biochemical_test": null,
"hmdb": "",
"systems_ids": [
7
],
"is_lab": false
}
},
"Hepatomegaly": {
"neonatal": "+++",
"infancy": "+++",
"childhood": "+",
"adolescence": "+",
"adulthood": null,
"was_char": true,
"symptom": {
"name": "Hepatomegaly",
"lab_name": "Hepatomegaly",
"systems": [
"Digestive",
"Digestive-Liver"
],
"biochemical_test": null,
"hmdb": null,
"systems_ids": [
14,
53
],
"is_lab": false
}
},
"Hypotonia": {
"neonatal": "+++",
"infancy": "+++",
"childhood": null,
"adolescence": null,
"adulthood": null,
"was_char": true,
"symptom": {
"name": "Hypotonia",
"lab_name": "Hypotonia",
"systems": [
"Neurologic"
],
"biochemical_test": null,
"hmdb": null,
"systems_ids": [
3
],
"is_lab": false
}
},
"Jaundice": {
"neonatal": "+++",
"infancy": "+++",
"childhood": "+",
"adolescence": "+",
"adulthood": null,
"was_char": true,
"symptom": {
"name": "Jaundice",
"lab_name": "Jaundice",
"systems": [
"Digestive",
"Digestive-Biliary"
],
"biochemical_test": null,
"hmdb": null,
"systems_ids": [
14,
76
],
"is_lab": false
}
},
"Liver failure": {
"neonatal": "+++",
"infancy": "+++",
"childhood": "+",
"adolescence": "+",
"adulthood": null,
"was_char": true,
"symptom": {
"name": "Liver failure",
"lab_name": "Liver failure",
"systems": [
"Digestive",
"Digestive-Liver"
],
"biochemical_test": null,
"hmdb": null,
"systems_ids": [
14,
53
],
"is_lab": false
}
},
"Neurological symptoms": {
"neonatal": "+++",
"infancy": "+++",
"childhood": null,
"adolescence": null,
"adulthood": null,
"was_char": true,
"symptom": {
"name": "Neurological symptoms",
"lab_name": "Neurological symptoms",
"systems": [
"Neurologic"
],
"biochemical_test": null,
"hmdb": "",
"systems_ids": [
3
],
"is_lab": false
}
},
"Neuropathy, peripheral": {
"neonatal": null,
"infancy": null,
"childhood": "±",
"adolescence": "±",
"adulthood": "±",
"was_char": true,
"symptom": {
"name": "Neuropathy, peripheral",
"lab_name": "Neuropathy, peripheral",
"systems": [
"Neurologic",
"Neurologic - PNS"
],
"biochemical_test": null,
"hmdb": null,
"systems_ids": [
3,
71
],
"is_lab": false
}
},
"Nystagmus": {
"neonatal": "±",
"infancy": "±",
"childhood": "±",
"adolescence": null,
"adulthood": null,
"was_char": true,
"symptom": {
"name": "Nystagmus",
"lab_name": "Nystagmus",
"systems": [
"Eye",
"Eye-Oculomotor"
],
"biochemical_test": null,
"hmdb": null,
"systems_ids": [
16,
85
],
"is_lab": false
}
}
},
"biochemical": {
"Enzyme testing": {
"Activity respiratory chain complexes (I, III, IV, and V) ": {
"neonatal": "+++",
"infancy": "+++",
"childhood": "↓↓",
"adolescence": null,
"adulthood": null,
"was_char": true,
"symptom": {
"name": "Activity respiratory chain complexes (I, III, IV, and V) ",
"lab_name": "Activity respiratory chain complexes (I, III, IV, and V) ",
"systems": [
"Laboratory findings"
],
"biochemical_test": "Enzyme testing",
"hmdb": null,
"systems_ids": [
5
],
"is_lab": true
}
},
"Gamma-glutamyl transpeptidase (P)": {
"neonatal": "↑↑",
"infancy": "↑↑",
"childhood": null,
"adolescence": null,
"adulthood": null,
"was_char": true,
"symptom": {
"name": "Gamma-glutamyl transpeptidase (P)",
"lab_name": "Gamma-glutamyl transpeptidase (P)",
"systems": [
"Laboratory findings"
],
"biochemical_test": "Enzyme testing",
"hmdb": null,
"systems_ids": [
5
],
"is_lab": true
}
},
"Transaminase (P)": {
"neonatal": "↑↑",
"infancy": "↑↑",
"childhood": null,
"adolescence": null,
"adulthood": null,
"was_char": false,
"symptom": {
"name": "Transaminase (P)",
"lab_name": "Transaminase (P)",
"systems": [
"Laboratory findings"
],
"biochemical_test": "Enzyme testing",
"hmdb": "",
"systems_ids": [
5
],
"is_lab": true
}
}
},
"Routine tests": {
"Glucose (P)": {
"neonatal": "↓↓",
"infancy": "↓↓",
"childhood": "↓",
"adolescence": null,
"adulthood": null,
"was_char": true,
"symptom": {
"name": "Glucose (P)",
"lab_name": "Glucose (P)",
"systems": [
"Laboratory findings"
],
"biochemical_test": "Routine tests",
"hmdb": "HMDB0000122",
"systems_ids": [
5
],
"is_lab": true
}
},
"Lactate (P)": {
"neonatal": "↑",
"infancy": "↑",
"childhood": "↑",
"adolescence": null,
"adulthood": null,
"was_char": false,
"symptom": {
"name": "Lactate (P)",
"lab_name": "Lactate (P)",
"systems": [
"Laboratory findings"
],
"biochemical_test": "Routine tests",
"hmdb": "HMDB0001311",
"systems_ids": [
5
],
"is_lab": true
}
},
"Lactate (CSF)": {
"neonatal": "↑",
"infancy": "↑",
"childhood": "↑",
"adolescence": null,
"adulthood": null,
"was_char": false,
"symptom": {
"name": "Lactate (CSF)",
"lab_name": "Lactate (CSF)",
"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": null,
"adulthood": "↓",
"was_char": false,
"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
}
},
"Histochemical mitochondrial proliferation (MUS)": {
"neonatal": null,
"infancy": null,
"childhood": null,
"adolescence": null,
"adulthood": "↑",
"was_char": false,
"symptom": {
"name": "Histochemical mitochondrial proliferation (MUS)",
"lab_name": "Histochemical mitochondrial proliferation (MUS)",
"systems": [
"Laboratory findings"
],
"biochemical_test": "Specific tests",
"hmdb": null,
"systems_ids": [
5
],
"is_lab": true
}
}
}
}
},
"educational_documents": [],
"disorder_treatments": [],
"disorder_resources": []
}