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CompoundsSubstances with curated findings
OutcomesMeasured endpoints
ProteinsTransporters and enzymes
InteractionsPairs that share biology
PapersEvery paper a finding cites
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ReachWhat a compound can become

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PathwaysReactions grouped under one name
ProcessesWhat proteins are annotated as doing
AnatomyTissues, by what is expressed there
Cell typesCells, by what is expressed there
OrganismsSpecies a compound is prepared from
MaterialsSubstances that are not one molecule
AssessmentsRegulatory determinations, transcribed
DiseasesFeatures, genes, and where each sits

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Reference

Evidence

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Outcomes
Proteins
Interactions
Papers
Articles

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Reach

Reference layer

Pathways
Processes
Anatomy
Cell types
Organisms
Materials
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Diseases

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Catalyst

Computational infrastructure for human biology, built on a provenance-aware knowledge graph. Findings retain their sources; research and simulation are the next layers.

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A reference for what the literature reports. Not medical advice.

© 2026 CatalystPrivacy TermsReference data under the licences listed on the attribution page.

Index

Diseases

Names from Mondo, HPO and GenCC

diseases in the graph: 23,730

Filter diseases by name

#a b c d e f g h i j k l m n o p q r s t u v w x y z

158 of 23,730 begin with a digit or symbol

10p13-p14 deletion syndromeMondoMONDO:0975905
10p15 microdeletion syndromeMondoMONDO:0975904
10q22.3q23.3 microduplication syndromeMondoMONDO:0017180
11p15.4 microduplication syndromeMondoMONDO:0017580
11q22.2q22.3 microdeletion syndromeMondoMONDO:0018632
12p12.1 microdeletion syndrome

More of the reference layer

Pathways
Biological processes
Anatomy
Cell types
Organisms
Materials
Regulatory assessments

Evidence: Compounds · Outcomes · Papers · Search

MondoMONDO:0017781

12q14 microdeletion syndromeMondoMONDO:0019784

12q15q21.1 microdeletion syndromeMondoMONDO:0017334

13q12.3 microdeletion syndromeMondoMONDO:0018474

14q11.2 microduplication syndromeMondoMONDO:0016835

14q12 microdeletion syndromeMondoMONDO:0016833

14q24.1q24.3 microdeletion syndromeMondoMONDO:0018429

14q32 duplication syndromeMondoMONDO:0014707

15q overgrowth syndromeMondoMONDO:0017806

15q11q13 microduplication syndromeMondoMONDO:0012081

15q14 microdeletion syndromeMondoMONDO:0014822

16p11.2p12.2 microduplication syndromeMondoMONDO:0016834

16p12.1p12.3 triplication syndromeMondoMONDO:0044621

16p13.11 microdeletion syndromeMondoMONDO:0016836

16p13.11 microduplication syndromeMondoMONDO:0016837

16q24.1 microdeletion syndromeMondoMONDO:0018127

16q24.3 microdeletion syndromeMondoMONDO:0016838

17-alpha-hydroxylase/17,20-lyase deficiency, combined completeMondoMONDO:0800379

17-alpha-hydroxylase/17,20-lyase deficiency, combined partialMondoMONDO:0800380

17,20-lyase deficiency, isolatedMondoMONDO:0800378

17q11.2 microduplication syndromeMondoMONDO:0015350

17q24.2 microdeletion syndromeMondoMONDO:0035151

19p13.12 microdeletion syndromeMondoMONDO:0016765

19p13.3 microduplication syndromeMondoMONDO:0018658

1p21.3 microdeletion syndromeMondoMONDO:0017405

1p35.2 microdeletion syndromeMondoMONDO:0018697

1q44 microdeletion syndromeMondoMONDO:0016561

2-aminoadipic 2-oxoadipic aciduriaMondoMONDO:0008774

2-hydroxyethyl methacrylate sensitizationMondoMONDO:0022323

2-hydroxyglutaric aciduriaMondoMONDO:0016001

2-methylacetoacetyl CoA thiolase deficiencyMondoMONDO:0022321

2-methylbutyryl-CoA dehydrogenase deficiencyMondoMONDO:0012392

20p12.3 microdeletion syndromeMondoMONDO:0016841

20p13 microdeletion syndromeMondoMONDO:0017780

20q11.2 microdeletion syndromeMondoMONDO:0018633

20q11.2 microduplication syndromeMondoMONDO:0018204

20q13.33 microdeletion syndromeMondoMONDO:0016843

21q22.11q22.12 microdeletion syndromeMondoMONDO:0016845

22q-related schwannomatosisMondoMONDO:1030016

22q11.2 deletion syndromeMondoMONDO:0018923

2p13.2 microdeletion syndromeMondoMONDO:0018207

2p21 microdeletion syndromeMondoMONDO:0015583

2p21 microdeletion syndrome without cystinuriaMondoMONDO:0018245

2p25.3 microduplication syndromeMondoMONDO:0979353

2q13 microdeletion syndromeMondoMONDO:0975887

2q23.1 microdeletion syndromeMondoMONDO:0016459

2q23.1 microduplication syndromeMondoMONDO:0017786

2q24 microdeletion syndromeMondoMONDO:0015566

2q31.1 microdeletion syndromeMondoMONDO:0016652

2q33.1 microdeletion syndromeMondoMONDO:0016653

2q37 microdeletion syndromeMondoMONDO:0010886

3-hydroxy-3-methylglutaric aciduriaMondoMONDO:0009520

3-hydroxy-3-methylglutaryl-CoA synthase deficiencyMondoMONDO:0011614

3-hydroxyacyl-CoA dehydrogenase deficiencyMondoMONDO:0017715

3-hydroxyisobutyric aciduriaMondoMONDO:0009371

3-hydroxyisobutyryl-CoA hydrolase deficiencyMondoMONDO:0009603

3-M syndromeMondoMONDO:0007477

3-methylcrotonyl-CoA carboxylase 1 deficiencyMondoMONDO:0008861

3-methylcrotonyl-CoA carboxylase 2 deficiencyMondoMONDO:0008862

3-methylcrotonyl-CoA carboxylase deficiencyMondoMONDO:0018950

3-methylglutaconic aciduriaMondoMONDO:0017359

3-methylglutaconic aciduria type 1MondoMONDO:0009610

3-methylglutaconic aciduria type 3MondoMONDO:0009787

3-methylglutaconic aciduria type 4MondoMONDO:0009611

3-methylglutaconic aciduria type 5MondoMONDO:0012435

3-methylglutaconic aciduria type 8MondoMONDO:0044723

3-methylglutaconic aciduria type 9MondoMONDO:0044724

3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndromeMondoMONDO:0013875

3-methylglutaconic aciduria, type VIIAMondoMONDO:0859237

3-methylglutaconic aciduria, type VIIBMondoMONDO:0014561

3-phosphoglycerate dehydrogenase deficiencyMondoMONDO:0018491

3M syndrome 1MondoMONDO:0010117

3M syndrome 2MondoMONDO:0013039

3M syndrome 3MondoMONDO:0013627

3MC syndromeMondoMONDO:0017398

3MC syndrome 1MondoMONDO:0009770

3MC syndrome 2MondoMONDO:0009927

3MC syndrome 3MondoMONDO:0009554

3p- syndromeMondoMONDO:0013424

3p25.3 microdeletion syndromeMondoMONDO:0018564

3q26 microduplication syndromeMondoMONDO:0019878

3q26q27 microdeletion syndromeMondoMONDO:0018156

3q26q28 deletion syndromeMondoMONDO:0979291

3q27.3 microdeletion syndromeMondoMONDO:0018341

4-hydroxyphenylacetic aciduriaMondoMONDO:0022330

45,X/46,XY mixed gonadal dysgenesisMondoMONDO:0015779

46 XX gonadal dysgenesisMondoMONDO:0009299

46 XY differences of sex developmentMondoMONDO:0020040

46,XX disorder of sex developmentMondoMONDO:0017576

46,XX disorder of sex development-anorectal anomalies syndromeMondoMONDO:0017573

46,XX disorder of sex development-skeletal anomalies syndromeMondoMONDO:0009915

46,XX ovarian dysgenesis-short stature syndromeMondoMONDO:0014520

46,XX ovotesticular disorder of sex developmentMondoMONDO:0016281

46,XX sex reversal 1MondoMONDO:0100250

46,XX sex reversal 2MondoMONDO:0010218

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