Disease

lamindb provides access to the following public Disease ontologies through bionty:

  1. Mondo

  2. Human Disease

Here we show how to access and search Disease ontologies to standardize new data.

import bionty as bt
import pandas as pd

PublicOntology objects

Let us create a public ontology accessor with .public method, which chooses a default public ontology source from Source. It’s a PublicOntology object, which you can think about as a public registry:

diseases = bt.Disease.public(organism="all")
diseases
→ connected lamindb: testuser1/test-public-ontologies
PublicOntology
Entity: Disease
Organism: all
Source: mondo, 2024-06-04
#terms: 28029

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... disease or disorder, non-neoplastic|disease or... []
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 ... corticoadrenal insufficiency|adrenocortical in... [MONDO:0002816]
MONDO:0000005 alopecia, isolated None None [MONDO:0100118, MONDO:0004907]

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="Alzheimers disease|Alzheimer's dementia|Alzheimer's disease|Alzheimers dementia|AD|presenile and senile dementia|Alzheimer dementia|Alzheimer disease", 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="Alzheimers disease|Alzheimer's dementia|Alzheimer's disease|Alzheimers dementia|AD|presenile and senile dementia|Alzheimer dementia|Alzheimer disease", 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="Alzheimers disease|Alzheimer's dementia|Alzheimer's disease|Alzheimers dementia|AD|presenile and senile dementia|Alzheimer dementia|Alzheimer disease", 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... paralysis agitans|Parkinson disease|Parkinson'... [MONDO:0100545, MONDO:0021095] 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... Parkinson disease caused by mutation in LRRK2|... [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... paralysis agitans|Parkinson disease|Parkinson'... [MONDO:0100545, MONDO:0021095] 100.000000
Bell's palsy MONDO:0005665 Partial Or Complete Paralysis Of The Facial Mu... Bell palsy|nerve paralysis, Facial|facial nerv... [MONDO:0001835, MONDO:0002782, MONDO:0002098] 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 brain degeneration|degenerative disorder of ce... [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:0002562] 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 Canavan-VAN Bogaert-Bertrand disease|aminoacyl... [MONDO:0017686, MONDO:0019046] 75.925926
A Disease Involving The Central Nervous System. MONDO:0002602 central nervous system disorder central nervous system disorder|central nervou... [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 cancer
alexia
trigonitis
paranasal sinus disorder
This 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]
! 1 term (20.00%) is not validated: This disease does not exist
Index(['This disease does not exist'], dtype='object')

Ontology source versions

For any given entity, we can choose from a number of versions:

bt.Disease.list_source().df()
Hide code cell output
uid entity organism name version in_db currently_used description url md5 source_website dataframe_artifact_id run_id created_by_id updated_at
id
47 2L2r bionty.Disease all mondo 2024-06-04 False True Mondo Disease Ontology http://purl.obolibrary.org/obo/mondo/releases/... c47e8edb894c01f2511dfe0751fbc428 https://mondo.monarchinitiative.org None None 1 2024-09-06 08:26:21.834667+00:00
48 5Xov bionty.Disease all mondo 2024-02-06 False False Mondo Disease Ontology http://purl.obolibrary.org/obo/mondo/releases/... 78914fa236773c5ea6605f7570df6245 https://mondo.monarchinitiative.org None None 1 2024-09-06 08:26:21.834705+00:00
49 69ln bionty.Disease all mondo 2024-01-03 False False Mondo Disease Ontology http://purl.obolibrary.org/obo/mondo/releases/... 73787d81b885cfa1a255ee293e38303d https://mondo.monarchinitiative.org None None 1 2024-09-06 08:26:21.834743+00:00
50 4ss2 bionty.Disease all mondo 2023-08-02 False False Mondo Disease Ontology http://purl.obolibrary.org/obo/mondo/releases/... 7f33767422042eec29f08b501fc851db https://mondo.monarchinitiative.org None None 1 2024-09-06 08:26:21.834780+00:00
51 Hgw0 bionty.Disease all mondo 2023-04-04 False False Mondo Disease Ontology http://purl.obolibrary.org/obo/mondo/releases/... 700c43dd9ba51aecc7a8edfc3bc2dab1 https://mondo.monarchinitiative.org None None 1 2024-09-06 08:26:21.834818+00:00
52 UUZU bionty.Disease all mondo 2023-02-06 False False Mondo Disease Ontology http://purl.obolibrary.org/obo/mondo/releases/... 2b7d479d4bd02a94eab47d1c9e64c5db https://mondo.monarchinitiative.org None None 1 2024-09-06 08:26:21.834856+00:00
53 7DH1 bionty.Disease all mondo 2022-10-11 False False Mondo Disease Ontology http://purl.obolibrary.org/obo/mondo/releases/... 04b808d05c2c2e81430b20a0e87552bb https://mondo.monarchinitiative.org None None 1 2024-09-06 08:26:21.834893+00:00
54 4ksw bionty.Disease human doid 2024-05-29 False True Human Disease Ontology http://purl.obolibrary.org/obo/doid/releases/2... bbefd72247d638edfcd31ec699947407 https://disease-ontology.org None None 1 2024-09-06 08:26:21.834931+00:00
55 4Pd5 bionty.Disease human doid 2024-01-31 False False Human Disease Ontology http://purl.obolibrary.org/obo/doid/releases/2... b36c15a4610757094f8db64b78ae2693 https://disease-ontology.org None None 1 2024-09-06 08:26:21.834968+00:00
56 1Is1 bionty.Disease human doid 2023-03-31 False False Human Disease Ontology http://purl.obolibrary.org/obo/doid/releases/2... 64f083a1e47867c307c8eae308afc3bb https://disease-ontology.org None None 1 2024-09-06 08:26:21.835008+00:00
57 3PIR bionty.Disease human doid 2023-01-30 False False Human Disease Ontology http://purl.obolibrary.org/obo/doid/releases/2... 9f0c92ad2896dda82195e9226a06dc36 https://disease-ontology.org None None 1 2024-09-06 08:26:21.835066+00:00
58 25rh bionty.Disease human icd icd-11-2023 False False International Classification of Diseases (ICD) s3://bionty-assets/df_human__icd__icd-11-2023_... 16263aef644d2c62c47b7b1ecfbad9d6 https://www.who.int/standards/classifications/... None None 1 2024-09-06 08:26:21.835105+00:00
59 6qLu bionty.Disease human icd icd-10-2024 False False International Classification of Diseases (ICD) s3://bionty-assets/df_human__icd__icd-10-2024_... cda43c983700518d76bd44c0e2c869d1 https://www.who.int/standards/classifications/... None None 1 2024-09-06 08:26:21.835143+00:00
60 7ZXS bionty.Disease human icd icd-10-2020 False False International Classification of Diseases (ICD) s3://bionty-assets/df_human__icd__icd-10-2020_... 93ec5734fcc2edd64686d5ffc6f6105f https://www.who.int/standards/classifications/... None None 1 2024-09-06 08:26:21.835180+00:00
61 2yYe bionty.Disease human icd icd-9-2011 False False International Classification of Diseases (ICD) s3://bionty-assets/df_human__icd__icd-9-2011__... cb3aefb3c4f7b2c47bf3de38453350c7 https://www.who.int/standards/classifications/... None None 1 2024-09-06 08:26:21.835218+00:00
# only lists the sources that are currently used
bt.Disease.list_source(currently_used=True).df()
uid entity organism name version in_db currently_used description url md5 source_website dataframe_artifact_id run_id created_by_id updated_at
id
47 2L2r bionty.Disease all mondo 2024-06-04 False True Mondo Disease Ontology http://purl.obolibrary.org/obo/mondo/releases/... c47e8edb894c01f2511dfe0751fbc428 https://mondo.monarchinitiative.org None None 1 2024-09-06 08:26:21.834667+00:00
54 4ksw bionty.Disease human doid 2024-05-29 False True Human Disease Ontology http://purl.obolibrary.org/obo/doid/releases/2... bbefd72247d638edfcd31ec699947407 https://disease-ontology.org None None 1 2024-09-06 08:26:21.834931+00:00

When instantiating a Bionty object, we can choose a source or version:

source = bt.Source.filter(
    name="mondo", version="2023-04-04", organism="all"
).one()
diseases= bt.Disease.public(source=source)
diseases
PublicOntology
Entity: Disease
Organism: all
Source: mondo, 2023-04-04
#terms: 26234

The currently used ontologies can be displayed using:

bt.Source.filter(currently_used=True).df()
Hide code cell output
uid entity organism name version in_db currently_used description url md5 source_website dataframe_artifact_id run_id created_by_id updated_at
id
1 33TU bionty.Organism vertebrates ensembl release-112 False True Ensembl https://ftp.ensembl.org/pub/release-112/specie... 0ec37e77f4bc2d0b0b47c6c62b9f122d https://www.ensembl.org None None 1 2024-09-06 08:26:21.832911+00:00
6 6bbV bionty.Organism bacteria ensembl release-57 False True Ensembl https://ftp.ensemblgenomes.ebi.ac.uk/pub/bacte... ee28510ed5586ea7ab4495717c96efc8 https://www.ensembl.org None None 1 2024-09-06 08:26:21.833120+00:00
7 6s9n bionty.Organism fungi ensembl release-57 False True Ensembl http://ftp.ensemblgenomes.org/pub/fungi/releas... dbcde58f4396ab8b2480f7fe9f83df8a https://www.ensembl.org None None 1 2024-09-06 08:26:21.833160+00:00
8 2PmT bionty.Organism metazoa ensembl release-57 False True Ensembl http://ftp.ensemblgenomes.org/pub/metazoa/rele... 424636a574fec078a61cbdddb05f9132 https://www.ensembl.org None None 1 2024-09-06 08:26:21.833199+00:00
9 7GPH bionty.Organism plants ensembl release-57 False True Ensembl https://ftp.ensemblgenomes.ebi.ac.uk/pub/plant... eadaa1f3e527e4c3940c90c7fa5c8bf4 https://www.ensembl.org None None 1 2024-09-06 08:26:21.833239+00:00
10 4tsk bionty.Organism all ncbitaxon 2023-06-20 False True NCBItaxon Ontology s3://bionty-assets/df_all__ncbitaxon__2023-06-... 00d97ba65627f1cd65636d2df22ea76c https://github.com/obophenotype/ncbitaxon None None 1 2024-09-06 08:26:21.833278+00:00
11 4UGN bionty.Gene human ensembl release-112 False True Ensembl s3://bionty-assets/df_human__ensembl__release-... 4ccda4d88720a326737376c534e8446b https://www.ensembl.org None None 1 2024-09-06 08:26:21.833316+00:00
15 4r4f bionty.Gene mouse ensembl release-112 False True Ensembl s3://bionty-assets/df_mouse__ensembl__release-... 519cf7b8acc3c948274f66f3155a3210 https://www.ensembl.org None None 1 2024-09-06 08:26:21.833468+00:00
19 4RPA bionty.Gene saccharomyces cerevisiae ensembl release-112 False True Ensembl s3://bionty-assets/df_saccharomyces cerevisiae... 11775126b101233525a0a9e2dd64edae https://www.ensembl.org None None 1 2024-09-06 08:26:21.833617+00:00
22 3EYy bionty.Protein human uniprot 2024-03 False True Uniprot s3://bionty-assets/df_human__uniprot__2024-03_... b5b9e7645065b4b3187114f07e3f402f https://www.uniprot.org None None 1 2024-09-06 08:26:21.833729+00:00
25 01RW bionty.Protein mouse uniprot 2024-03 False True Uniprot s3://bionty-assets/df_mouse__uniprot__2024-03_... b1b6a196eb853088d36198d8e3749ec4 https://www.uniprot.org None None 1 2024-09-06 08:26:21.833841+00:00
28 3kDh bionty.CellMarker human cellmarker 2.0 False True CellMarker s3://bionty-assets/human_cellmarker_2.0_CellMa... d565d4a542a5c7e7a06255975358e4f4 http://bio-bigdata.hrbmu.edu.cn/CellMarker None None 1 2024-09-06 08:26:21.833952+00:00
29 7bV5 bionty.CellMarker mouse cellmarker 2.0 False True CellMarker s3://bionty-assets/mouse_cellmarker_2.0_CellMa... 189586732c63be949e40dfa6a3636105 http://bio-bigdata.hrbmu.edu.cn/CellMarker None None 1 2024-09-06 08:26:21.833990+00:00
30 6LyR bionty.CellLine all clo 2022-03-21 False True Cell Line Ontology https://data.bioontology.org/ontologies/CLO/su... ea58a1010b7e745702a8397a526b3a33 https://bioportal.bioontology.org/ontologies/CLO None None 1 2024-09-06 08:26:21.834028+00:00
32 1Lhf bionty.CellType all cl 2024-05-15 False True Cell Ontology http://purl.obolibrary.org/obo/cl/releases/202... 8a8638a9e79567935793e5007704c650 https://obophenotype.github.io/cell-ontology None None 1 2024-09-06 08:26:21.834103+00:00
39 MUtA bionty.Tissue all uberon 2024-08-07 False True Uberon multi-species anatomy ontology http://purl.obolibrary.org/obo/uberon/releases... http://obophenotype.github.io/uberon None None 1 2024-09-06 08:26:21.834366+00:00
47 2L2r bionty.Disease all mondo 2024-06-04 False True Mondo Disease Ontology http://purl.obolibrary.org/obo/mondo/releases/... c47e8edb894c01f2511dfe0751fbc428 https://mondo.monarchinitiative.org None None 1 2024-09-06 08:26:21.834667+00:00
54 4ksw bionty.Disease human doid 2024-05-29 False True Human Disease Ontology http://purl.obolibrary.org/obo/doid/releases/2... bbefd72247d638edfcd31ec699947407 https://disease-ontology.org None None 1 2024-09-06 08:26:21.834931+00:00
62 69Xc bionty.ExperimentalFactor all efo 3.66.0 False True The Experimental Factor Ontology http://www.ebi.ac.uk/efo/releases/v3.66.0/efo.owl 6bd24217c740af7e1e771c1dabc9680b https://bioportal.bioontology.org/ontologies/EFO None None 1 2024-09-06 08:26:21.835256+00:00
67 48fB bionty.Phenotype human hp 2024-04-26 False True Human Phenotype Ontology https://github.com/obophenotype/human-phenotyp... e0f2e534eb2ad44a4d45573ef27b508f https://hpo.jax.org None None 1 2024-09-06 08:26:21.837671+00:00
72 4t7Q bionty.Phenotype mammalian mp 2024-06-18 False True Mammalian Phenotype Ontology https://github.com/mgijax/mammalian-phenotype-... 795d8378fe48ec13b41d01a86dd1c86c https://github.com/mgijax/mammalian-phenotype-... None None 1 2024-09-06 08:26:21.837853+00:00
75 sqPX bionty.Phenotype zebrafish zp 2024-04-18 False True Zebrafish Phenotype Ontology https://github.com/obophenotype/zebrafish-phen... 2231ebaa95becf8ff34a33c95a8d4350 https://github.com/obophenotype/zebrafish-phen... None None 1 2024-09-06 08:26:21.837962+00:00
79 6S4q bionty.Phenotype all pato 2024-03-28 False True Phenotype And Trait Ontology http://purl.obolibrary.org/obo/pato/releases/2... 6b1eaacd3d453b34375ce2e31c16328a https://github.com/pato-ontology/pato None None 1 2024-09-06 08:26:21.838104+00:00
81 7Ent bionty.Pathway all go 2024-06-17 False True Gene Ontology https://data.bioontology.org/ontologies/GO/sub... 7fa7ade5e3e26eab3959a7e4bc89ad4f http://geneontology.org None None 1 2024-09-06 08:26:21.838176+00:00
86 3rm9 BFXPipeline all lamin 1.0.0 False True Bioinformatics Pipeline s3://bionty-assets/df_all__lamin__1.0.0__BFXpi... https://lamin.ai None None 1 2024-09-06 08:26:21.838355+00:00
87 ugaI Drug all dron 2024-08-05 False True Drug Ontology https://data.bioontology.org/ontologies/DRON/s... https://bioportal.bioontology.org/ontologies/DRON None None 1 2024-09-06 08:26:21.838390+00:00
91 1GbF bionty.DevelopmentalStage human hsapdv 2024-05-28 False True Human Developmental Stages https://github.com/obophenotype/developmental-... https://github.com/obophenotype/developmental-... None None 1 2024-09-06 08:26:21.838532+00:00
93 10va bionty.DevelopmentalStage mouse mmusdv 2024-05-28 False True Mouse Developmental Stages https://github.com/obophenotype/developmental-... https://github.com/obophenotype/developmental-... None None 1 2024-09-06 08:26:21.838603+00:00
95 MJRq bionty.Ethnicity human hancestro 3.0 False True Human Ancestry Ontology https://github.com/EBISPOT/hancestro/raw/3.0/h... 76dd9efda9c2abd4bc32fc57c0b755dd https://github.com/EBISPOT/hancestro None None 1 2024-09-06 08:26:21.838675+00:00
96 5JnV BioSample all ncbi 2023-09 False True NCBI BioSample attributes s3://bionty-assets/df_all__ncbi__2023-09__BioS... 918db9bd1734b97c596c67d9654a4126 https://www.ncbi.nlm.nih.gov/biosample/docs/at... None None 1 2024-09-06 08:26:21.838710+00:00