Disease#
lamindb provides access to the following public protein ontologies through bionty:
Here we show how to access and search Disease ontologies to standardize new data.
import bionty as bt
import pandas as pd
π‘ connected lamindb: testuser1/test-public-ontologies
PublicOntology objects#
Let us create a public ontology accessor with .public
method, which chooses a default public ontology source from PublicSource
.
Itβs a PublicOntology object, which you can think about as a public registry:
diseases = bt.Disease.public(organism="all")
diseases
PublicOntology
Entity: Disease
Organism: all
Source: mondo, 2023-08-02
#terms: 26509
π .df(): ontology reference table
π .lookup(): autocompletion of terms
π― .search(): free text search of terms
β
.validate(): strictly validate values
π§ .inspect(): full inspection of values
π½ .standardize(): convert to standardized names
πͺ .diff(): difference between two versions
π .to_pronto(): Pronto.Ontology object
As for registries, you can export the ontology as a DataFrame
:
df = diseases.df()
df.head()
name | definition | synonyms | parents | |
---|---|---|---|---|
ontology_id | ||||
MONDO:0000001 | disease | A Disease Is A Disposition To Undergo Patholog... | medical condition|diseases and disorders|other... | [] |
MONDO:0000002 | obsolete 46,XX sex reversal | None | None | [] |
MONDO:0000003 | obsolete 17-hydroxysteroid dehydrogenase defic... | None | None | [] |
MONDO:0000004 | adrenocortical insufficiency | An Endocrine Or Hormonal Disorder That Occurs ... | adrenocortical insufficiency|adrenal cortical ... | [MONDO:0002816] |
MONDO:0000005 | alopecia, isolated | None | None | [MONDO:0021034] |
Unlike registries, you can also export it as a Pronto object via public.ontology
.
Look up terms#
As for registries, terms can be looked up with auto-complete:
lookup = diseases.lookup()
The .
accessor provides normalized terms (lower case, only contains alphanumeric characters and underscores):
lookup.alzheimer_disease
Disease(ontology_id='MONDO:0004975', name='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.', synonyms="Alzheimer dementia|Alzheimer disease|Alzheimer's disease|presenile and senile dementia|Alzheimers disease|Alzheimer's dementia|Alzheimers dementia|AD", parents=array(['MONDO:0001627', 'MONDO:0005574'], dtype=object))
To look up the exact original strings, convert the lookup object to dict and use the []
accessor:
lookup_dict = lookup.dict()
lookup_dict["Alzheimer disease"]
Disease(ontology_id='MONDO:0004975', name='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.', synonyms="Alzheimer dementia|Alzheimer disease|Alzheimer's disease|presenile and senile dementia|Alzheimers disease|Alzheimer's dementia|Alzheimers dementia|AD", parents=array(['MONDO:0001627', 'MONDO:0005574'], dtype=object))
By default, the name
field is used to generate lookup keys. You can specify another field to look up:
lookup = diseases.lookup(diseases.ontology_id)
lookup.mondo_0004975
Disease(ontology_id='MONDO:0004975', name='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.', synonyms="Alzheimer dementia|Alzheimer disease|Alzheimer's disease|presenile and senile dementia|Alzheimers disease|Alzheimer's dementia|Alzheimers dementia|AD", parents=array(['MONDO:0001627', 'MONDO:0005574'], dtype=object))
Search terms#
Search behaves in the same way as it does for registries:
diseases.search("parkinsons disease").head(3)
ontology_id | definition | synonyms | parents | __ratio__ | |
---|---|---|---|---|---|
name | |||||
Parkinson disease | MONDO:0005180 | A Progressive Degenerative Disorder Of The Cen... | Parkinson disease|Parkinson's disease|paralysi... | [MONDO:0021095, MONDO:0003847] | 97.297297 |
parkinson disease 3, autosomal dominant | MONDO:0011220 | None | PARK3|Parkinson disease 3 | [MONDO:0017279] | 91.891892 |
autosomal dominant Parkinson disease 8 | MONDO:0011764 | Any Parkinson Disease In Which The Cause Of Th... | autosomal dominant Parkinson disease 8|Parkins... | [MONDO:0008199] | 91.891892 |
By default, search also covers synonyms:
diseases.search("paralysis agitans").head(3)
ontology_id | definition | synonyms | parents | __ratio__ | |
---|---|---|---|---|---|
name | |||||
Parkinson disease | MONDO:0005180 | A Progressive Degenerative Disorder Of The Cen... | Parkinson disease|Parkinson's disease|paralysi... | [MONDO:0021095, MONDO:0003847] | 100.000000 |
Bell's palsy | MONDO:0005665 | Partial Or Complete Paralysis Of The Facial Mu... | paralysis Of Facial nerve|Bell palsy|facial ne... | [MONDO:0002098, MONDO:0001835, MONDO:0002782] | 66.666667 |
paralytic lagophthalmos | MONDO:0001603 | None | paralytic lagophthalmos|paralytic lagophthalmo... | [MONDO:0001604] | 65.000000 |
You can turn this off synonym by passing synonyms_field=None
:
diseases.search("paralysis agitans", synonyms_field=None).head(3)
ontology_id | definition | synonyms | parents | __ratio__ | |
---|---|---|---|---|---|
name | |||||
paralytic lagophthalmos | MONDO:0001603 | None | paralytic lagophthalmos|paralytic lagophthalmo... | [MONDO:0001604] | 65.000000 |
paralysis agitans, juvenile, of Hunt | MONDO:0008193 | None | paralysis agitans, juvenile, of Hunt | [MONDO:0009830] | 64.150943 |
paralytic ileus | MONDO:0004568 | An Ileus Caused By Abdominal Or Pelvic Surgery... | paralytic ileus|paralytic ileus (disease) | [MONDO:0004567] | 62.500000 |
Search another field (default is .name
):
diseases.search(
"progressive degenerative disorder of the central nervous system",
field=diseases.definition,
).head()
ontology_id | name | synonyms | parents | __ratio__ | |
---|---|---|---|---|---|
definition | |||||
A Disorder Of The Central Nervous System Characterized By Gradual And Progressive Loss Of Neural Tissue And Neurologic Function. | MONDO:0005559 | neurodegenerative disease | central nervous system neurodegenerative disor... | [MONDO:0002602] | 85.454545 |
Any Condition In Which There Is Degeneration Of The Myelin Sheath That Covers The Nerves Of The Central Nervous System. | MONDO:0020800 | demyelinating disease of central nervous system | demyelinating disease of central nervous syste... | [MONDO:0002562] | 79.310345 |
Schilder'S Disease Is A Progressive Demyelinating Disorder Of The Central Nervous System. | MONDO:0010085 | Schilder disease | Myelinoclastic diffuse sclerosis|Schilder dise... | [MONDO:0016428] | 76.821192 |
A Neurodegenerative Disorder; Its Spectrum Varies Between Severe Forms With Leukodystrophy, Macrocephaly And Severe Developmental Delay, And A Very Rare Mild/Juvenile Form Characterized By Mild Developmental Delay. | MONDO:0010079 | Canavan disease | aminoacylase 2 deficiency|spongy degeneration ... | [MONDO:0019046, MONDO:0017686] | 75.925926 |
A Disease Involving The Central Nervous System. | MONDO:0002602 | central nervous system disorder | central nervous system disease|central nervous... | [MONDO:0005071] | 74.074074 |
Standardize Disease identifiers#
Let us generate a DataFrame
that stores a number of Disease identifiers, some of which corrupted:
df_orig = pd.DataFrame(
index=[
"supraglottis cancer"
"alexia"
"trigonitis"
"paranasal sinus disorder"
"This disease does not exist",
]
)
df_orig
supraglottis canceralexiatrigonitisparanasal sinus disorderThis disease does not exist |
---|
We can check whether any of our values are validated against the ontology reference:
validated = diseases.validate(df_orig.index, diseases.name)
df_orig.index[~validated]
β 1 term (100.00%) is not validated: supraglottis canceralexiatrigonitisparanasal sinus disorderThis disease does not exist
Index(['supraglottis canceralexiatrigonitisparanasal sinus disorderThis disease does not exist'], dtype='object')
Ontology source versions#
For any given entity, we can choose from a number of versions:
bt.PublicSource.filter(entity="Disease").df()
uid | entity | organism | currently_used | source | source_name | version | url | md5 | source_website | created_at | updated_at | created_by_id | |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|
id | |||||||||||||
29 | 6EOm | Disease | all | True | mondo | Mondo Disease Ontology | 2023-08-02 | http://purl.obolibrary.org/obo/mondo/releases/... | 7f33767422042eec29f08b501fc851db | https://mondo.monarchinitiative.org | 2024-03-28 12:05:34.570870+00:00 | 2024-03-28 12:05:34.570880+00:00 | 1 |
30 | 6rnZ | Disease | all | False | mondo | Mondo Disease Ontology | 2023-04-04 | http://purl.obolibrary.org/obo/mondo/releases/... | 700c43dd9ba51aecc7a8edfc3bc2dab1 | https://mondo.monarchinitiative.org | 2024-03-28 12:05:34.570959+00:00 | 2024-03-28 12:05:34.570968+00:00 | 1 |
31 | 4MnC | Disease | all | False | mondo | Mondo Disease Ontology | 2023-02-06 | http://purl.obolibrary.org/obo/mondo/releases/... | 2b7d479d4bd02a94eab47d1c9e64c5db | https://mondo.monarchinitiative.org | 2024-03-28 12:05:34.571048+00:00 | 2024-03-28 12:05:34.571057+00:00 | 1 |
32 | 1yI2 | Disease | all | False | mondo | Mondo Disease Ontology | 2022-10-11 | http://purl.obolibrary.org/obo/mondo/releases/... | 04b808d05c2c2e81430b20a0e87552bb | https://mondo.monarchinitiative.org | 2024-03-28 12:05:34.571138+00:00 | 2024-03-28 12:05:34.571147+00:00 | 1 |
33 | 3V9D | Disease | human | True | doid | Human Disease Ontology | 2023-03-31 | http://purl.obolibrary.org/obo/doid/releases/2... | 64f083a1e47867c307c8eae308afc3bb | https://disease-ontology.org | 2024-03-28 12:05:34.571227+00:00 | 2024-03-28 12:05:34.571236+00:00 | 1 |
34 | 5To5 | Disease | human | False | doid | Human Disease Ontology | 2023-01-30 | http://purl.obolibrary.org/obo/doid/releases/2... | 9f0c92ad2896dda82195e9226a06dc36 | https://disease-ontology.org | 2024-03-28 12:05:34.571319+00:00 | 2024-03-28 12:05:34.571328+00:00 | 1 |
35 | 7RUF | Disease | human | False | icd | International Classification of Diseases (ICD) | icd-11-2023 | s3://bionty-assets/df_human__icd__icd-11-2023_... | 16263aef644d2c62c47b7b1ecfbad9d6 | https://www.cdc.gov/nchs/icd/icd9cm.htm | 2024-03-28 12:05:34.571408+00:00 | 2024-03-28 12:05:34.571417+00:00 | 1 |
36 | 4reF | Disease | human | False | icd | International Classification of Diseases (ICD) | icd-10-2020 | s3://bionty-assets/df_human__icd__icd-10-2020_... | 93ec5734fcc2edd64686d5ffc6f6105f | https://www.cdc.gov/nchs/icd/icd9cm.htm | 2024-03-28 12:05:34.571497+00:00 | 2024-03-28 12:05:34.571507+00:00 | 1 |
37 | vUqh | Disease | human | False | icd | International Classification of Diseases (ICD) | icd-9-2011 | s3://bionty-assets/df_human__icd__icd-9-2011__... | cb3aefb3c4f7b2c47bf3de38453350c7 | https://www.cdc.gov/nchs/icd/icd9cm.htm | 2024-03-28 12:05:34.571586+00:00 | 2024-03-28 12:05:34.571595+00:00 | 1 |
When instantiating a Bionty object, we can choose a source or version:
public_source = bt.PublicSource.filter(
source="mondo", version="2023-04-04", organism="all"
).one()
diseases= bt.Disease.public(public_source=public_source)
diseases
β loading non-default source inside a LaminDB instance
PublicOntology
Entity: Disease
Organism: all
Source: mondo, 2023-04-04
#terms: 26234
π .df(): ontology reference table
π .lookup(): autocompletion of terms
π― .search(): free text search of terms
β
.validate(): strictly validate values
π§ .inspect(): full inspection of values
π½ .standardize(): convert to standardized names
πͺ .diff(): difference between two versions
π .to_pronto(): Pronto.Ontology object
The currently used ontologies can be displayed using:
bt.PublicSource.filter(currently_used=True).df()
Show code cell output
uid | entity | organism | currently_used | source | source_name | version | url | md5 | source_website | created_at | updated_at | created_by_id | |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|
id | |||||||||||||
1 | 6IUo | Organism | vertebrates | True | ensembl | Ensembl | release-110 | https://ftp.ensembl.org/pub/release-110/specie... | f3faf95648d3a2b50fd3625456739706 | https://www.ensembl.org | 2024-03-28 12:05:34.568227+00:00 | 2024-03-28 12:05:34.568247+00:00 | 1 |
4 | 2Jzh | Organism | bacteria | True | ensembl | Ensembl | release-57 | https://ftp.ensemblgenomes.ebi.ac.uk/pub/bacte... | ee28510ed5586ea7ab4495717c96efc8 | https://www.ensembl.org | 2024-03-28 12:05:34.568546+00:00 | 2024-03-28 12:05:34.568556+00:00 | 1 |
5 | 1kdI | Organism | fungi | True | ensembl | Ensembl | release-57 | http://ftp.ensemblgenomes.org/pub/fungi/releas... | dbcde58f4396ab8b2480f7fe9f83df8a | https://www.ensembl.org | 2024-03-28 12:05:34.568639+00:00 | 2024-03-28 12:05:34.568649+00:00 | 1 |
6 | 2mIM | Organism | metazoa | True | ensembl | Ensembl | release-57 | http://ftp.ensemblgenomes.org/pub/metazoa/rele... | 424636a574fec078a61cbdddb05f9132 | https://www.ensembl.org | 2024-03-28 12:05:34.568731+00:00 | 2024-03-28 12:05:34.568740+00:00 | 1 |
7 | 2XQ6 | Organism | plants | True | ensembl | Ensembl | release-57 | https://ftp.ensemblgenomes.ebi.ac.uk/pub/plant... | eadaa1f3e527e4c3940c90c7fa5c8bf4 | https://www.ensembl.org | 2024-03-28 12:05:34.568821+00:00 | 2024-03-28 12:05:34.568831+00:00 | 1 |
8 | 1Vzs | Organism | all | True | ncbitaxon | NCBItaxon Ontology | 2023-06-20 | s3://bionty-assets/df_all__ncbitaxon__2023-06-... | 00d97ba65627f1cd65636d2df22ea76c | https://github.com/obophenotype/ncbitaxon | 2024-03-28 12:05:34.568911+00:00 | 2024-03-28 12:05:34.568921+00:00 | 1 |
9 | 4yVc | Gene | human | True | ensembl | Ensembl | release-110 | s3://bionty-assets/df_human__ensembl__release-... | 832f3947e83664588d419608a469b528 | https://www.ensembl.org | 2024-03-28 12:05:34.569004+00:00 | 2024-03-28 12:05:34.569014+00:00 | 1 |
11 | 2akp | Gene | mouse | True | ensembl | Ensembl | release-110 | s3://bionty-assets/df_mouse__ensembl__release-... | fa4ce130f2929aefd7ac3bc8eaf0c4de | https://www.ensembl.org | 2024-03-28 12:05:34.569189+00:00 | 2024-03-28 12:05:34.569199+00:00 | 1 |
13 | 2UvD | Gene | saccharomyces cerevisiae | True | ensembl | Ensembl | release-110 | s3://bionty-assets/df_saccharomyces cerevisiae... | 2e59495a3e87ea6575e408697dd73459 | https://www.ensembl.org | 2024-03-28 12:05:34.569373+00:00 | 2024-03-28 12:05:34.569382+00:00 | 1 |
14 | 7llW | Protein | human | True | uniprot | Uniprot | 2023-03 | s3://bionty-assets/df_human__uniprot__2023-03_... | 1c46e85c6faf5eff3de5b4e1e4edc4d3 | https://www.uniprot.org | 2024-03-28 12:05:34.569463+00:00 | 2024-03-28 12:05:34.569473+00:00 | 1 |
16 | 5U7J | Protein | mouse | True | uniprot | Uniprot | 2023-03 | s3://bionty-assets/df_mouse__uniprot__2023-03_... | 9d5e9a8225011d3218e10f9bbb96a46c | https://www.uniprot.org | 2024-03-28 12:05:34.569644+00:00 | 2024-03-28 12:05:34.569654+00:00 | 1 |
18 | 5nkB | CellMarker | human | True | cellmarker | CellMarker | 2.0 | s3://bionty-assets/human_cellmarker_2.0_CellMa... | d565d4a542a5c7e7a06255975358e4f4 | http://bio-bigdata.hrbmu.edu.cn/CellMarker | 2024-03-28 12:05:34.569840+00:00 | 2024-03-28 12:05:34.569850+00:00 | 1 |
19 | 6AFz | CellMarker | mouse | True | cellmarker | CellMarker | 2.0 | s3://bionty-assets/mouse_cellmarker_2.0_CellMa... | 189586732c63be949e40dfa6a3636105 | http://bio-bigdata.hrbmu.edu.cn/CellMarker | 2024-03-28 12:05:34.569936+00:00 | 2024-03-28 12:05:34.569946+00:00 | 1 |
20 | 6cbC | CellLine | all | True | clo | Cell Line Ontology | 2022-03-21 | https://data.bioontology.org/ontologies/CLO/su... | ea58a1010b7e745702a8397a526b3a33 | https://bioportal.bioontology.org/ontologies/CLO | 2024-03-28 12:05:34.570047+00:00 | 2024-03-28 12:05:34.570059+00:00 | 1 |
21 | 6tvq | CellType | all | True | cl | Cell Ontology | 2023-08-24 | http://purl.obolibrary.org/obo/cl/releases/202... | 46e7dd89421f1255cf0191eca1548f73 | https://obophenotype.github.io/cell-ontology | 2024-03-28 12:05:34.570145+00:00 | 2024-03-28 12:05:34.570155+00:00 | 1 |
25 | 1PY3 | Tissue | all | True | uberon | Uberon multi-species anatomy ontology | 2023-09-05 | http://purl.obolibrary.org/obo/uberon/releases... | abcee3ede566d1311d758b853ccdf5aa | http://obophenotype.github.io/uberon | 2024-03-28 12:05:34.570508+00:00 | 2024-03-28 12:05:34.570517+00:00 | 1 |
29 | 6EOm | Disease | all | True | mondo | Mondo Disease Ontology | 2023-08-02 | http://purl.obolibrary.org/obo/mondo/releases/... | 7f33767422042eec29f08b501fc851db | https://mondo.monarchinitiative.org | 2024-03-28 12:05:34.570870+00:00 | 2024-03-28 12:05:34.570880+00:00 | 1 |
33 | 3V9D | Disease | human | True | doid | Human Disease Ontology | 2023-03-31 | http://purl.obolibrary.org/obo/doid/releases/2... | 64f083a1e47867c307c8eae308afc3bb | https://disease-ontology.org | 2024-03-28 12:05:34.571227+00:00 | 2024-03-28 12:05:34.571236+00:00 | 1 |
38 | 6fKX | ExperimentalFactor | all | True | efo | The Experimental Factor Ontology | 3.57.0 | http://www.ebi.ac.uk/efo/releases/v3.57.0/efo.owl | 2ecafc69b3aba7bdb31ad99438505c05 | https://bioportal.bioontology.org/ontologies/EFO | 2024-03-28 12:05:34.571675+00:00 | 2024-03-28 12:05:34.571684+00:00 | 1 |
40 | 6jHz | Phenotype | human | True | hp | Human Phenotype Ontology | 2023-06-17 | https://github.com/obophenotype/human-phenotyp... | 65e8d96bc81deb893163927063b10c06 | https://hpo.jax.org | 2024-03-28 12:05:34.571853+00:00 | 2024-03-28 12:05:34.571862+00:00 | 1 |
43 | 4q5A | Phenotype | mammalian | True | mp | Mammalian Phenotype Ontology | 2023-05-31 | https://github.com/mgijax/mammalian-phenotype-... | be89052cf6d9c0b6197038fe347ef293 | https://github.com/mgijax/mammalian-phenotype-... | 2024-03-28 12:05:34.572118+00:00 | 2024-03-28 12:05:34.572127+00:00 | 1 |
44 | 6Czy | Phenotype | zebrafish | True | zp | Zebrafish Phenotype Ontology | 2022-12-17 | https://github.com/obophenotype/zebrafish-phen... | 03430b567bf153216c0fa4c3440b3b24 | https://github.com/obophenotype/zebrafish-phen... | 2024-03-28 12:05:34.572207+00:00 | 2024-03-28 12:05:34.572216+00:00 | 1 |
46 | 55lY | Phenotype | all | True | pato | Phenotype And Trait Ontology | 2023-05-18 | http://purl.obolibrary.org/obo/pato/releases/2... | bd472f4971492109493d4ad8a779a8dd | https://github.com/pato-ontology/pato | 2024-03-28 12:05:34.572385+00:00 | 2024-03-28 12:05:34.572394+00:00 | 1 |
47 | 48aa | Pathway | all | True | go | Gene Ontology | 2023-05-10 | https://data.bioontology.org/ontologies/GO/sub... | e9845499eadaef2418f464cd7e9ac92e | http://geneontology.org | 2024-03-28 12:05:34.572474+00:00 | 2024-03-28 12:05:34.572483+00:00 | 1 |
49 | 3rm9 | BFXPipeline | all | True | lamin | Bioinformatics Pipeline | 1.0.0 | s3://bionty-assets/bfxpipelines.json | a7eff57a256994692fba46e0199ffc94 | https://lamin.ai | 2024-03-28 12:05:34.572652+00:00 | 2024-03-28 12:05:34.572662+00:00 | 1 |
50 | 3TI0 | Drug | all | True | dron | Drug Ontology | 2023-03-10 | https://data.bioontology.org/ontologies/DRON/s... | 75e86011158fae76bb46d96662a33ba3 | https://bioportal.bioontology.org/ontologies/DRON | 2024-03-28 12:05:34.572742+00:00 | 2024-03-28 12:05:34.572751+00:00 | 1 |
51 | 7CRn | DevelopmentalStage | human | True | hsapdv | Human Developmental Stages | 2020-03-10 | http://aber-owl.net/media/ontologies/HSAPDV/11... | 52181d59df84578ed69214a5cb614036 | https://github.com/obophenotype/developmental-... | 2024-03-28 12:05:34.572832+00:00 | 2024-03-28 12:05:34.572841+00:00 | 1 |
52 | 16tR | DevelopmentalStage | mouse | True | mmusdv | Mouse Developmental Stages | 2020-03-10 | http://aber-owl.net/media/ontologies/MMUSDV/9/... | 5bef72395d853c7f65450e6c2a1fc653 | https://github.com/obophenotype/developmental-... | 2024-03-28 12:05:34.572921+00:00 | 2024-03-28 12:05:34.572930+00:00 | 1 |
53 | 3Tlc | Ethnicity | human | True | hancestro | Human Ancestry Ontology | 3.0 | https://github.com/EBISPOT/hancestro/raw/3.0/h... | 76dd9efda9c2abd4bc32fc57c0b755dd | https://github.com/EBISPOT/hancestro | 2024-03-28 12:05:34.573010+00:00 | 2024-03-28 12:05:34.573020+00:00 | 1 |
54 | 5JnV | BioSample | all | True | ncbi | NCBI BioSample attributes | 2023-09 | s3://bionty-assets/df_all__ncbi__2023-09__BioS... | 918db9bd1734b97c596c67d9654a4126 | https://www.ncbi.nlm.nih.gov/biosample/docs/at... | 2024-03-28 12:05:34.573100+00:00 | 2024-03-28 12:05:34.573109+00:00 | 1 |