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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 | |
--- 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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