Disease#

lamindb provides access to the following public protein 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
πŸ’‘ loaded instance: 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. It’s 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

πŸ“– .df(): ontology reference table
πŸ”Ž .lookup(): autocompletion of terms
🎯 .search(): free text search of terms
βœ… .validate(): strictly validate values
🧐 .inspect(): full inspection of values
πŸ‘½ .standardize(): convert to standardized names
πŸͺœ .diff(): difference between two versions
πŸ”— .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]
❗ 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 2024-03-04 17:05:27.601143+00:00 2024-03-04 17:05:27.601152+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 2024-03-04 17:05:27.601239+00:00 2024-03-04 17:05:27.601248+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 2024-03-04 17:05:27.601336+00:00 2024-03-04 17:05:27.601344+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 2024-03-04 17:05:27.601432+00:00 2024-03-04 17:05:27.601441+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 2024-03-04 17:05:27.601527+00:00 2024-03-04 17:05:27.601536+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 2024-03-04 17:05:27.601623+00:00 2024-03-04 17:05:27.601632+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 2024-03-04 17:05:27.601719+00:00 2024-03-04 17:05:27.601728+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 2024-03-04 17:05:27.601815+00:00 2024-03-04 17:05:27.601823+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 2024-03-04 17:05:27.601910+00:00 2024-03-04 17:05:27.601919+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
❗ loading non-default source inside a LaminDB instance
PublicOntology
Entity: Disease
Organism: all
Source: mondo, 2023-04-04
#terms: 26234

πŸ“– .df(): ontology reference table
πŸ”Ž .lookup(): autocompletion of terms
🎯 .search(): free text search of terms
βœ… .validate(): strictly validate values
🧐 .inspect(): full inspection of values
πŸ‘½ .standardize(): convert to standardized names
πŸͺœ .diff(): difference between two versions
πŸ”— .to_pronto(): Pronto.Ontology object

The currently used ontologies can be displayed using:

bt.PublicSource.filter(currently_used=True).df()
Hide 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 2024-03-04 17:05:27.597876+00:00 2024-03-04 17:05:27.597912+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 2024-03-04 17:05:27.598473+00:00 2024-03-04 17:05:27.598495+00:00 1
5 1kdI Organism fungi True ensembl Ensembl release-57 http://ftp.ensemblgenomes.org/pub/fungi/releas... dbcde58f4396ab8b2480f7fe9f83df8a https://www.ensembl.org 2024-03-04 17:05:27.598665+00:00 2024-03-04 17:05:27.598685+00:00 1
6 2mIM Organism metazoa True ensembl Ensembl release-57 http://ftp.ensemblgenomes.org/pub/metazoa/rele... 424636a574fec078a61cbdddb05f9132 https://www.ensembl.org 2024-03-04 17:05:27.598830+00:00 2024-03-04 17:05:27.598845+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 2024-03-04 17:05:27.598941+00:00 2024-03-04 17:05:27.598952+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 2024-03-04 17:05:27.599044+00:00 2024-03-04 17:05:27.599054+00:00 1
9 4yVc Gene human True ensembl Ensembl release-110 s3://bionty-assets/df_human__ensembl__release-... 832f3947e83664588d419608a469b528 https://www.ensembl.org 2024-03-04 17:05:27.599144+00:00 2024-03-04 17:05:27.599153+00:00 1
11 2akp Gene mouse True ensembl Ensembl release-110 s3://bionty-assets/df_mouse__ensembl__release-... fa4ce130f2929aefd7ac3bc8eaf0c4de https://www.ensembl.org 2024-03-04 17:05:27.599342+00:00 2024-03-04 17:05:27.599351+00:00 1
13 2UvD Gene saccharomyces cerevisiae True ensembl Ensembl release-110 s3://bionty-assets/df_saccharomyces cerevisiae... 2e59495a3e87ea6575e408697dd73459 https://www.ensembl.org 2024-03-04 17:05:27.599536+00:00 2024-03-04 17:05:27.599545+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 2024-03-04 17:05:27.599634+00:00 2024-03-04 17:05:27.599643+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 2024-03-04 17:05:27.599828+00:00 2024-03-04 17:05:27.599837+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 2024-03-04 17:05:27.600021+00:00 2024-03-04 17:05:27.600030+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 2024-03-04 17:05:27.600148+00:00 2024-03-04 17:05:27.600162+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 2024-03-04 17:05:27.600258+00:00 2024-03-04 17:05:27.600268+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 2024-03-04 17:05:27.600359+00:00 2024-03-04 17:05:27.600368+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 2024-03-04 17:05:27.600757+00:00 2024-03-04 17:05:27.600766+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 2024-03-04 17:05:27.601143+00:00 2024-03-04 17:05:27.601152+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 2024-03-04 17:05:27.601527+00:00 2024-03-04 17:05:27.601536+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 2024-03-04 17:05:27.602006+00:00 2024-03-04 17:05:27.602014+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 2024-03-04 17:05:27.602200+00:00 2024-03-04 17:05:27.602208+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-... 2024-03-04 17:05:27.602489+00:00 2024-03-04 17:05:27.602498+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... 2024-03-04 17:05:27.602585+00:00 2024-03-04 17:05:27.602594+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 2024-03-04 17:05:27.602777+00:00 2024-03-04 17:05:27.602785+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 2024-03-04 17:05:27.602872+00:00 2024-03-04 17:05:27.602881+00:00 1
49 3rm9 BFXPipeline all True lamin Bioinformatics Pipeline 1.0.0 s3://bionty-assets/bfxpipelines.json a7eff57a256994692fba46e0199ffc94 https://lamin.ai 2024-03-04 17:05:27.603062+00:00 2024-03-04 17:05:27.603071+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 2024-03-04 17:05:27.603158+00:00 2024-03-04 17:05:27.603166+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-... 2024-03-04 17:05:27.603253+00:00 2024-03-04 17:05:27.603262+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-... 2024-03-04 17:05:27.603349+00:00 2024-03-04 17:05:27.603358+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 2024-03-04 17:05:27.603444+00:00 2024-03-04 17:05:27.603453+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... 2024-03-04 17:05:27.603542+00:00 2024-03-04 17:05:27.603551+00:00 1