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Add phenopacket extraction template #484
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very initial results on a case report, without expanding the subcategories (from the text of PMID 10874631): extracted_object:
id: 0bc06850-bb1b-4ee4-914a-74df417ef5c0
label: Mutations in the retinal specific ATP binding transporter gene (ABCR) related
to retinal diseases
subject: First cousin II.1; First cousin II.2
phenotypic_features:
- Bilateral loss of central vision
- Gradual loss of visual acuity
- Choriocapillaris atrophy
- Night blindness
- Retina pigmentary deposits
- Macular dystrophy
- Visual field showed a central scotoma
- Photopically abnormal ERG
- Progressive night blindness
- Concentric reduction of visual field
- Total blindness with visual acuity reduced to light perception
measurements:
- Visual acuity
- Fundus appearance
- Fluorescein angiography
- Goldman perimetry
- Electroretinogram (ERG)
biosample:
- Blood samples from the patients and family
interpretations:
- RP19 and STGD are allelic disorders at the ABCR locus despite clinical heterogeneity
diseases:
- Stargardt disease
- Retinitis pigmentosa (RP19)
medical_actions:
- NA
files:
- NA
meta_data: NA |
This is now readily usable.
extracted_object:
phenopackets:
- id: Proband_1
subject:
sex: MALE
taxonomy: NCBITaxon:9606
phenotypic_features:
- description: Lobar holoprosencephaly
type: HP:0006870
- description: atypical ventricles with small frontal horns
type: AUTO:ventricles
- description: Fusion observed between the hypothalamus and the caudate region.
type: AUTO:Hypothalamic%20and%20caudate%20fusion.
- description: Excessive thirst and excretion of large amounts of severely
diluted urine, with a reduction of fluid intake having no effect on the
concentration of the urine.
type: HP:0000873
- description: seizures
type: HP:0001250
- type: AUTO:premaxillary%20agenesis
- type: HP:0000252
- description: absent nasal root and septum with a depressed nasal tip
type: HP:0003196
diseases:
- term: MONDO:0007734
meta_data: Associated study includes analysis of mutations in TGIF linked to
Holoprosencephaly 4 (PMID:16962354)
named_entities:
- id: HP:0006870
label: Lobar holoprosencephaly
original_spans:
- 224:246
- id: AUTO:ventricles
label: ventricles
original_spans:
- 258:267
- id: AUTO:Hypothalamic%20and%20caudate%20fusion.
label: Hypothalamic and caudate fusion.
- id: HP:0000873
label: Diabetes insipidus
original_spans:
- 328:345
- id: HP:0001250
label: seizures
original_spans:
- 348:355
- id: AUTO:premaxillary%20agenesis
label: premaxillary agenesis
original_spans:
- 358:378
- id: HP:0000252
label: microcephaly
original_spans:
- 381:392
- id: HP:0003196
label: nasal hypoplasia
- id: MONDO:0007734
label: Holoprosencephaly 4
original_spans:
- 166:184 |
Will still need some tuning and fixes to improve extraction and grounding, of course. |
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