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@yonromai
Created September 14, 2023 16:52
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Sample 1 prompt
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
--- END EXAMPLES ---
Here are the records for which this `precision` label is not yet known:
--- BEGIN RECORDS ---
- id: MONDO:0032911
label: hearing loss, autosomal dominant 75
definition: null
- id: Orphanet:331184
label: Constitutional neutropenia with extra-haematopoietic manifestations
definition: null
- id: MONDO:0100322
label: non-Zellweger spectrum disorder
definition: A peroxisome biogenesis disorder which is due to defect in PEX7 or PEX5. This includes rhizomelic chondrodysplasia punctata due to defect in PEX7 or PEX5, and adult Refsum Disease due to defects in PEX7.
- id: MONDO:0010540
label: bullous dystrophy, macular type
definition: A genetic disorder characterised by formation of bullae without traumatic origin, alopecia, hyperpigmentation, acrocyanosis, short stature, microcephaly, intellectual deficit, tapering fingers and nail abnormalities. Two families (one of whom was Dutch and the other Italian) have been described up to now, in which only males were affected. Transmission is X-linked recessive. The bullous dystrophy locus has been mapped to Xq26.3 in the Italian family and to Xq27.3 in the Dutch family.
- id: EFO:1000421
label: Ovarian Granulosa Cell Tumor
definition: A granulosa-stromal cell tumor that arises from the ovary. It is characterized by the presence of granulosa cells that comprise at least ten percent of the cellular population. The granulosa cells are often found in a background that contains theca and fibrous cells. There are two major subtypes recognized, adult and juvenile granulosa cell tumor. Clinically, patients may present with an abdominal mass. Symptoms depend on the patient's age. The most important indicator of prognosis is tumor stage. Age over forty years at the time of the initial diagnosis, large tumor size, bilaterality, cellular atypia, and increased mitotic activity are factors indicating a potentially aggressive clinical course and relative poor prognosis.
- id: MONDO:0010062
label: spinocerebellar ataxia-dysmorphism syndrome
definition: Spinocerebellar ataxia-dysmorphism is marked by characteristic facies associated with dysarthria, delayed psychomotor development, ataxia, scoliosis and foot deformities. Three cases have been described and transmission appears to be autosomal recessive.
- id: MONDO:0008700
label: acheiropody
definition: Acheiropodia is an extremely rare developmental disorder characterized by bilateral, congenital and complete amputation of the distal extremities (amputation of distal epiphysis of the humerus, distal portion of the tibial diaphysis, aplasia of the radius, ulna, fibula) and aplasia of hands and feet (aplasia of carpal, metacarpal, tarsal, metatarsal and phalangeal bones). Rarely, an ectopic bone can be found at the distal end of the humerus. No other systemic manifestations have been reported and the disorder follows an autosomal recessive pattern of inheritance.
- id: MONDO:0018814
label: non-SCID combined immunodeficiency
definition: null
- id: MONDO:0008881
label: kyphomelic dysplasia
definition: 'Kyphomelic dysplasia is a prenatal skeletal disease that causes dwarfism characterized bythe following: a disproportionately short stature with a short narrow chest,shortening and bending (bowing)of the limbs, flared irregular metaphyses of the bones, and characteristicfacial features.Bone changes are said to improve with age.Kyphomelic dysplasia is inherited in an autosomal recessive pattern. Recent studies indicate that Kyphomelic dysplasia is no longerconsidered it''s ownentity and that individual cases should be further evaluated andre-classified as another existing chondrodysplasias, such as Schwartz-Jampel syndrome.'
- id: Orphanet:73230
label: Ossification anomalies - psychomotor development delay
definition: null
- id: Orphanet:90185
label: Non-hereditary late-onset primary lymphedema
definition: Non-hereditary late-onset primary lymphedema, also known as Meige-like disease, is a very rare form of primary lymphedema characterized by lower limb lymphedema mostly during puberty, but a negative family history for Meige disease (see this term).
- id: MONDO:0007131
label: anonychia with flexural pigmentation
definition: Anonychia with flexural pigmentation is characterised by anonychia and skin abnormalities (hyper- and hypopigmentation in axillae and groins, dry palmar and plantar skin leading to sore and cracked soles). It has been described in a mother and her two children. The mode of transmission is autosomal dominant.
- id: EFO:0008497
label: chronic lung allograft dysfunction
definition: Chronic lung allograft dysfunction encompasses a range of pathologies that cause a transplanted lung to not achieve or maintain normal function. It manifests as airflow restriction and/or obstruction and is predominantly a result of chronic rejection.
- id: Orphanet:98813
label: Hypohidrotic ectodermal dysplasia with immunodeficiency
definition: null
- id: EFO:0000736
label: well-differentiated liposarcoma
definition: A locally aggressive malignant neoplasm composed of mature adipocytes showing cell size variation and nuclear atypia. It is often associated with the presence of hyperchromatic multinucleated stromal cells, and varying numbers of lipoblasts. There are three histologic subtypes, sclerosing, inflammatory, and spindle cell liposarcoma. These tumors do not usually metastasize unless they undergo dedifferentiation.
- id: EFO:1000160
label: Cervical Adenoid Basal Carcinoma
definition: A rare low grade carcinoma that arises from the cervix. It is characterized by the presence of nests of basaloid cells with focal glandular formations.
- id: EFO:0009382
label: metabolically healthy obesity
definition: Long-standing obesity without metbolic abnormalities or obesity-related comorbidities such as type 2 diabetes or heart disease
- id: EFO:0004608
label: cystic fibrosis associated meconium ileus
definition: "Cystic fibrosis associated meconium ileum is a thickening and congestion of the meconium in the ileum in newborns, often the first sign of cystic fibrosis.\_In cystic fibrosis, the meconium can form a bituminous black-green mechanical obstruction in a segment of the ileum. Beyond this there may be a few separate grey-white globular pellets. Below this level, the bowel is a narrow and empty micro-colon. Above the level of the obstruction, there are several loops of hypertrophied bowel distended with fluid. No meconium is passed, and abdominal distension and vomiting appear soon after birth. About 20% of cases of cystic fibrosis present with meconium ileus, while approximately 20% of one series of cases of meconium ileus did not have cystic fibrosis.\_The presence of meconium ileus is not related to the severity of the cystic fibrosis."
- id: EFO:1000581
label: Thymoma
definition: 'A neoplasm arising from the epithelial cells of the thymus. Although thymomas are usually encapsulated tumors, they may invade the capsule and infiltrate the surrounding tissues or even metastasize to distant anatomic sites. The following morphologic subtypes are currently recognized: type A, type B, type AB, metaplastic, micronodular, microscopic, and sclerosing thymoma. Thymomas type B are further subdivided into types B1, B2, and B3. Thymoma type B3 usually has the most aggressive clinical course.'
- id: Orphanet:329242
label: Congenital chronic diarrhea with protein-losing enteropathy
definition: null
- id: MONDO:0019978
label: Robinow syndrome
definition: Robinow syndrome (RS) is a rare genetic syndrome characterized by limb shortening and abnormalities of the head, face and external genitalia.
- id: MONDO:0015295
label: intractable diarrhea-choanal atresia-eye anomalies syndrome
definition: Intractable diarrhea-choanal atresia-eye anomalies syndrome is characterised by the association of intractable diarrhoea of infancy with choanal atresia. Short stature, a prominent and broad nasal bridge, micrognathia, single palmar creases, chronic corneal inflammation, cytopenia, and abnormal hair texture were also reported. So far, the syndrome has been described in three children from the same family. The absence of intellectual deficit and immune deficiency allow this syndrome to be distinguished from other forms of intractable diarrhoea of infancy described previously.
- id: MONDO:0016244
label: atypical hemolytic-uremic syndrome
definition: Atypical hemolytic-uremic syndrome (aHUS) is a thrombotic microangiopathy characterized by mechanical hemolytic anemia, thrombocytopenia, and renal dysfunction.
- id: EFO:1000770
label: stromal corneal pigmentation
definition: Stromal pigmentation such as that in ochronosis results from chronic irritation. The melanin is in the superficial stroma and the basal layer of the corneal epithelium.
- id: MONDO:0009124
label: Dubowitz syndrome
definition: A rare multiple congenital syndrome characterized primarly by growth retardation, microcephaly, distinctive facial dysmorphism, cutaneous eczema, a mild to severe intellectual deficit and genital abnormalities.
- id: Orphanet:391307
label: Severe intellectual disability-short stature-behavioral troubles-facial dysmorphism syndrome
definition: null
- id: Orphanet:263482
label: Spondyloepiphyseal dysplasia, Maroteaux type
definition: Spondyloepiphyseal dysplasia, Maroteaux type is a very rare type of spondyloepiphyseal dysplasia (see this term) described in fewer than 10 patients to date and characterized clinically by dysplastic epiphyses, short stature appearing in infancy, short neck, short and stubby hands and feet, scoliosis, genu valgum, abnormal pelvis, osteoporosis and osteoarthritis.
- id: MONDO:0030054
label: developmental and epileptic encephalopathy, 86
definition: null
- id: MONDO:0017236
label: rapidly progressive glomerulonephritis
definition: Inflammation of the glomeruli that is characterized by a rapid loss in renal function with glomerular crescent formation observed on biopsy; it is often seen in patients with concomitant autoimmune disease, like Goodpasture's syndrome or systemic lupus erythematosus.
- id: MONDO:0017794
label: Xq12-q13.3 duplication syndrome
definition: Xq12-q13.3 duplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome X, characterized by global developmental delay, autistic behavior, microcephaly and facial dysmorphism (including down-slanting palpebral fissures, depressed nasal bridge, anteverted nares, long philtrum, down-slanting corners of the mouth). Seizures have also been reported in some patients.
- id: MONDO:0004975
label: Alzheimer disease
definition: A progressive, neurodegenerative disease characterized by loss of function and death of nerve cells in several areas of the brain leading to loss of cognitive function such as memory and language.
- id: Orphanet:206659
label: Non-dystrophic myopathy with collagen 6 anomaly
definition: null
- id: EFO:0008627
label: eye hemorrhage
definition: Bleeding from vessels of the various tissues of the eye. [ DDD:akelly ]
- id: EFO:0007144
label: amebiasis
definition: A parasitic infectious disorder caused by amoebas. The parasite may cause colitis which is manifested with bloody diarrhea, abdominal pain, nausea and fever. In rare cases it may spread to the liver, brain and lungs.
- id: MONDO:0004526
label: mixed endometrial stromal and smooth muscle tumor
definition: A benign or malignant mesenchymal neoplasm of the uterine corpus. Representative examples include leiomyoma, leiomyosarcoma, and endometrial stromal sarcoma.
- id: EFO:1001154
label: retinal artery occlusion
definition: An occlusion of the retinal artery.
- id: MONDO:0017237
label: hereditary sensorimotor neuropathy with hyperelastic skin
definition: null
- id: Orphanet:75325
label: Osteosclerosis - ichthyosis - premature ovarian failure
definition: null
- id: MONDO:0007776
label: hypersensitivity pneumonitis, familial
definition: An instance of hypersensitivity pneumonitis that is caused by an inherited modification of the individual's genome.
- id: MONDO:0001627
label: dementia
definition: Loss of intellectual abilities interfering with an individual's social and occupational functions. Causes include Alzheimer's disease, brain injuries, brain tumors, and vascular disorders.
- id: MONDO:0016966
label: partial trisomy of the long arm of chromosome 16
definition: null
- id: EFO:0003827
label: pulmonary embolism
definition: Blocking of the PULMONARY ARTERY or one of its branches by an EMBOLUS.
--- 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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