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Sample 2 prompt (from `2023-09-15T19:24:55.041736.json`)
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A list of records will be provided from an ontology of disease terms. Each record will contain information describing a single term. | |
Assign a `precision` label to each of these terms that captures the extent to which they correspond to patient populations with distinguishing clinical, demographic, physiological or molecular characteristics. Use exactly one of the following values for this label: | |
- `high`: High precision terms have the greatest ontological specificity, sometimes (but not necessarily) correspond to small groups of relatively homogeneous patients, often have greater diagnostic certainty and typically represent the forefront of clinical practice. | |
- `medium`: Medium precision terms are the ontological ancestors of `high` precision terms (if any are known), often include indications in later stage clinical trials and generally reflect groups of patients assumed to be suffering from a condition with a shared, or at least similar, physiological or environmental origin. | |
- `low`: Low precision terms are the ontological ancestors of both `medium` and `high` precision terms, group collections of diseases with *some* shared characteristics and typically connote a relatively heterogenous patient population. They are often terms used within the ontology for organizational purposes. | |
The records provided will already have the following fields: | |
- `id`: A string identifier for the term | |
- `label`: A descriptive name for the term | |
- `description`: A longer, possibly truncated description of what the term is; may be NA (i.e. absent) | |
Here is a list of such records (in YAML format) where the `precision` label is already assigned for 3 examples at each level of precision: | |
--- BEGIN EXAMPLES --- | |
- id: EFO:1000639 | |
label: acquired metabolic disease | |
definition: A disease of metabolism that has _material_basis_in enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to an endocrine organ disease, organ malfunction, inadequate intake, dietary deficiency, or ... | |
precision: low | |
- id: Orphanet:68336 | |
label: Rare genetic tumor | |
definition: NA | |
precision: low | |
- id: EFO:0005548 | |
label: developmental disorder of mental health | |
definition: A disease of mental health that occur during a child’s developmental period between birth and age 18 resulting in retarding of the child’s | |
precision: low | |
- id: EFO:0005548 | |
label: inflammatory bowel disease | |
definition: A spectrum of small and large bowel inflammatory diseases of unknown etiology. It includes Crohn's disease, ulcerative colitis, and colitis of indeterminate type. | |
precision: medium | |
- id: EFO:0000384 | |
label: Crohn's disease | |
definition: A gastrointestinal disorder characterized by chronic inflammation involving all layers of the intestinal wall, noncaseating granulomas affecting the intestinal wall and regional lymph nodes, and transmural fibrosis. Crohn disease most ... | |
precision: medium | |
- id: MONDO:0045020 | |
label: glycine metabolism disease | |
definition: A disease that has its basis in the disruption of glycine metabolic process. | |
precision: medium | |
- id: EFO:1000277 | |
label: Gastric Small Cell Neuroendocrine Carcinoma | |
definition: An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the stomach. It is characterized by the presence of malignant small cells. | |
precision: high | |
- id: MONDO:0015634 | |
label: isolated osteopoikilosis | |
definition: A osteopoikilosis (disease) that is not part of a larger syndrome. | |
precision: high | |
- id: Orphanet:98755 | |
label: Spinocerebellar ataxia type 1 | |
definition: Spinocerebellar ataxia type 1 (SCA1) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by dysarthria, writing difficulties, limb ataxia, and commonly nystagmus and saccadic abnormalities. | |
precision: high | |
- id: Orphanet:75325 | |
label: Osteosclerosis - ichthyosis - premature ovarian failure | |
definition: NA | |
precision: high | |
- id: EFO:0007237 | |
label: dipetalonemiasis | |
definition: A filariasis that is a zoonotic infection caused by the nematode of the genus Dipetalonema. | |
precision: high | |
- id: MONDO:0013742 | |
label: familial mesial temporal lobe epilepsy with febrile seizures | |
definition: NA | |
precision: high | |
- id: MONDO:0002321 | |
label: sensory peripheral neuropathy | |
definition: Inflammation or degeneration of the sensory nerves. | |
precision: medium | |
- id: EFO:1000646 | |
label: papillary carcinoma | |
definition: A malignant epithelial neoplasm characterized by a papillary growth pattern. | |
precision: medium | |
- id: EFO:0011057 | |
label: neurotoxicity | |
definition: Toxicity that causes injury to the central or peripheral nervous system or damages its function. | |
precision: low | |
--- END EXAMPLES --- | |
Here are the records for which this `precision` label is not yet known: | |
--- BEGIN RECORDS --- | |
- id: Orphanet:314555 | |
label: Craniofacial dysplasia-osteopenia syndrome | |
definition: null | |
- id: Orphanet:228429 | |
label: Generalized congenital lipodystrophy with myopathy | |
definition: null | |
- id: MONDO:0020072 | |
label: childhood-onset epilepsy syndrome | |
definition: A epilepsy syndrome that occurs during childhood. | |
- id: MONDO:0012991 | |
label: Kahrizi syndrome | |
definition: An autosomal recessive disease that is characterized by mental retardation, cataracts, coloboma, kyphosis, and coarse facial features and has material basis in mutation in the SRD5A3 gene. | |
- id: MONDO:0009012 | |
label: multiple pterygium-malignant hyperthermia syndrome | |
definition: Malignant hyperthermia-arthrogryposis-torticollisis an extremely rare arthrogryposis syndrome, described in only two pairs of siblings from two unrelated families to date, and characterized by the association of arthrogryposis, congenital torticollis, dysmorphic facial features (i.e. asymmetry of the face, myopathic facial movements, ptosis, posteriorly rotated ears, cleft palate), progressive scoliosis and episodes of malignant hyperthermia. There have been no further descriptions in the literature since 1988. | |
- id: MONDO:0008670 | |
label: Waardenburg syndrome type 1 | |
definition: Waardenburg syndrome type 1 (WS1) is a subtype of Waardenburg syndrome (WS), disorder characterized by congenital deafness, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin, in combination with dystopia canthorum. | |
- id: Orphanet:319199 | |
label: Autosomal recessive spastic paraplegia type 53 | |
definition: null | |
- id: EFO:1001897 | |
label: Morvan syndrome | |
definition: Morvan syndrome is a rare autoimmune/paraneoplastic disorder involving antibodies to the voltage-gated potassium channel complex. It is defined by subacute encephalopathy, neuromuscular hyperexcitability, dysautonomia, and sleep disturbance. [PMID:27224435] | |
- id: MONDO:0007510 | |
label: Clouston syndrome | |
definition: Clouston syndrome (or hidrotic ectodermal dysplasia) is characterised by the clinical triad of nail dystrophy, alopecia, and palmoplantar hyperkeratosis. | |
- id: EFO:0008571 | |
label: viral conjunctivitis | |
definition: Conjunctivitis resulting from viral infection. | |
- id: EFO:0007293 | |
label: haemonchiasis | |
definition: A trichostrongyloidiasis that involves parasitic infection of the ruminant abomasum by nematodes of the genus Haemonchus resulting in anemia, dehydration, diarrhea and accumulation of fluid in the abdomen, gut wall, thoracic cavity and submandibular tissue. | |
- id: MONDO:0007321 | |
label: autosomal dominant chondrodysplasia punctata | |
definition: Autosomal dominant form of chondrodysplasia punctata. | |
- id: MONDO:0008842 | |
label: ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia | |
definition: A rare autosomal recessive cerebellar ataxia (ARCA), characterized by progressive cerebellar ataxia associated with oculomotor apraxia, severe neuropathy, and hypoalbuminemia. | |
- id: MONDO:0009262 | |
label: GM1 gangliosidosis type 3 | |
definition: GM1 gangliosidosis type 3 is a mild, chronic, adult form of GM1 gangliosidosis characterized by onset generally during childhood or adolescence and by cerebellar dysfunction. | |
- id: MONDO:0014121 | |
label: autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures | |
definition: null | |
- id: EFO:1000802 | |
label: alcoholic liver cirrhosis | |
definition: A disorder of the liver characterized by the presence of fibrotic scar tissue instead of healthy liver tissue. This condition is attributed to excessive consumption of alcoholic beverages. | |
- id: Orphanet:171607 | |
label: X-linked spastic paraplegia type 34 | |
definition: null | |
- id: Orphanet:357332 | |
label: Syndactyly - camptodactyly and clinodactyly of fifth fingers - bifid toes | |
definition: null | |
- id: MONDO:0000949 | |
label: conjunctival degeneration | |
definition: null | |
- id: MONDO:0008458 | |
label: spinocerebellar ataxia type 2 | |
definition: Spinocerebellar ataxia type 2 (SCA2) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I) characterized by truncal ataxia, dysarthria, slowed saccades and less commonly ophthalmoparesis and chorea. | |
- id: EFO:1000436 | |
label: Ovarian Tumor of the Thecoma/Fibroma Group | |
definition: A group of neoplasms that arise from the ovary and represent a spectrum of tumors ranging from neoplasms that are composed entirely of fibroblasts to those that are composed predominantly of theca cells. | |
- id: EFO:0007408 | |
label: orbital cancer | |
definition: A bone cancer that is located_in the area behind the eye and derives_from the orbit or secondarily derives_from an adjacent source (eyelid, paranasal sinus, or intracranial compartment). It results_in the eye pushing forward causing a bulging of the eye called proptosis. | |
- id: MONDO:0002516 | |
label: digestive system cancer | |
definition: A primary or metastatic malignant neoplasm involving any part of the digestive system. | |
- id: MONDO:0014601 | |
label: autosomal recessive spinocerebellar ataxia 20 | |
definition: Any autosomal recessive cerebellar ataxia in which the cause of the disease is a mutation in the SNX14 gene. | |
- id: EFO:1001145 | |
label: Raynaud disease | |
definition: An episodic vasoconstriction resulting in discoloration of the skin and pain in the affected areas, often involving fingers or toes. Classically associated with triphasic color changes (white, blue, red) but may be biphasic. Often occurs in response to cold temperatures or emotional stress. May be primary or secondary to an underlying autoimmune disease. | |
- id: MONDO:0008935 | |
label: cerebellar ataxia-hypogonadism syndrome | |
definition: Cerebellar ataxia-hypogonadism syndrome is a very rare autosomal recessive neurodegenerative disorder characterized by the combination of progressive cerebellar ataxia with onset from early childhood to the fourth decade, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Cerebellar ataxia-hypogonadism syndrome belongs to a clinical continuum of neurodegenerative disorders along with clinically overlapping disorders such as ataxia-hypogonadism-choroidal dystrophy syndrome. | |
- id: OTAR:0000010 | |
label: respiratory or thoracic disease | |
definition: A disease affecting the respiratory system or other thoracic organs. | |
- id: MONDO:0009204 | |
label: lethal faciocardiomelic dysplasia | |
definition: Lethal faciocardiomelic dysplasia is an extremely rare polymalformative syndrome. | |
- id: MONDO:0017296 | |
label: glycerol kinase deficiency, adult form | |
definition: Adult glycerol kinase deficiency (GKD) is an uncommon form of GKD diagnosed fortuitously and characterized by pseudohypertriglyceridemia in otherwise healthy adults. | |
- id: MONDO:0005405 | |
label: childhood onset asthma | |
definition: Asthma that starts in childhood. | |
- id: Orphanet:98196 | |
label: Malformation syndrome with hamartosis | |
definition: null | |
- id: MONDO:0016487 | |
label: beta-thalassemia intermedia | |
definition: Beta-thalassemia (BT) intermedia is a form of BT characterized by mild to moderate anemia which does not or only occasionally requires transfusion. | |
- id: MONDO:0013536 | |
label: heme oxygenase 1 deficiency | |
definition: null | |
- id: MONDO:0016908 | |
label: partial monosomy of the long arm of chromosome 9 | |
definition: null | |
- id: MONDO:0017740 | |
label: disorder of protein N-glycosylation | |
definition: A disease that has its basis in the disruption of protein N-linked glycosylation. | |
- id: EFO:1000517 | |
label: Salivary Gland Large Cell Carcinoma | |
definition: A rare, highly aggressive carcinoma that arises from the salivary gland, predominantly the parotid gland. It is characterized by the presence of large pleomorphic malignant cells with abundant cytoplasm. Patients usually present with a rapidly growing mass. | |
- id: Orphanet:1292 | |
label: Brachymorphism - onychodysplasia - dysphalangism | |
definition: Brachymorphism-onychodysplasia-dysphalangism (BOD) is a very rare malformation syndrome that is characterized by short stature, hypoplastic fifth digits with tiny dysplastic nails, facial dysmorphism with coarse features including a wide mouth and broad nose, and mild intellectual disability. It has been suggested that Coffin-Siris syndrome (see this term) and BOD syndrome are perhaps allelic variants. | |
--- END RECORDS --- | |
Requirements: | |
- Assign a `precision` label for ALL records | |
- Respond in CSV format using a pipe (i.e. "|") delimiter with the headers `id`, `precision` where `id` is the `id` associated with each record | |
- Include the headers in the result | |
- Respond with ONLY the CSV content, do not include explanation of any kind | |
CSV: |
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