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Created September 15, 2023 19:38
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Sample 2 prompt (from `2023-09-15T19:24:55.041736.json`)
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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