| Peutz-Jeghers syndrome | MONDO:0008280 | 3 | Classic Familial Adenomatous Polyposis, Cronkhite-Canada syndrome, Juvenile Polyposis Syndrome |
| fibrous dysplasia | MONDO:0000845 | 2 | Gorham-Stout disease, Morgagni-Stewart-Morel Syndrome |
| Myocarditis | MONDO:0004496 | 2 | Fabry disease, Lyme Disease |
| PTEN hamartoma tumor syndrome | MONDO:0017623 | 2 | Houge-Janssens Syndrome, Proteus syndrome |
| pulmonary hemosiderosis | MONDO:0008346 | 2 | Collagenous Sprue, Lane Hamilton Syndrome |
| stroke disorder | MONDO:0005098 | 2 | Akinetopsia, Bell's palsy |
| Usher syndrome | MONDO:0019501 | 2 | Kilquist syndrome, PHARC syndrome |
| 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome | MONDO:0013875 | 1 | Sengers syndrome |
| acoustic neuroma | MONDO:0001569 | 1 | Labyrinthitis |
| acquired cystic kidney disease | MONDO:0002473 | 1 | Polycystic Kidney Disease |
| acquired Fanconi syndrome | MONDO:0060779 | 1 | Cadmium Poisoning |
| acromegaly | MONDO:0019933 | 1 | Diabetes mellitus |
| acute bacterial sepsis | MONDO:0005229 | 1 | Leptospirosis |
| acute leukemia | MONDO:0010643 | 1 | Lane Hamilton Syndrome |
| acute otitis externa | MONDO:0001051 | 1 | Otomycosis |
| adult Refsum disease | MONDO:0009958 | 1 | PHARC syndrome |
| adult-onset Still disease | MONDO:0019355 | 1 | Wissler syndrome |
| alcoholic ketoacidosis | MONDO:0100160 | 1 | Refeeding Syndrome |
| Allergic rhinitis | MONDO:0011786 | 1 | Empty Nose Syndrome |
| alveolar echinococcosis | MONDO:0017282 | 1 | Polycystic echinococcosis |
| amebiasis | MONDO:0005644 | 1 | Giardiasis |
| Amoebiasis due to Entamoeba histolytica | MONDO:0019028 | 1 | Dientamoebiasis |
| Amyloidosis | MONDO:0019065 | 1 | Fabry disease |
| angiodysplasia | MONDO:0002322 | 1 | Dieulafoy Lesion |
| anti-glomerular basement membrane disease | MONDO:0009303 | 1 | Lane Hamilton Syndrome |
| appendicitis | MONDO:0005649 | 1 | Clostridioides difficile Infection |
| atrial septal defect | MONDO:0006664 | 1 | Scimitar Syndrome |
| Atrophic rhinitis | MONDO:0005659 | 1 | Empty Nose Syndrome |
| attenuated familial adenomatous polyposis | MONDO:0016362 | 1 | Classic Familial Adenomatous Polyposis |
| autoimmune polyendocrine syndrome type 1 | MONDO:0009411 | 1 | Wissler syndrome |
| autosomal recessive congenital ichthyosis | MONDO:0017265 | 1 | Netherton syndrome |
| B-cell prolymphocytic leukemia | MONDO:0019461 | 1 | Mantle Cell Lymphoma |
| Bannayan-Riley-Ruvalcaba syndrome | MONDO:0007924 | 1 | Proteus syndrome |
| benign paroxysmal positional vertigo | MONDO:8000018 | 1 | Semicircular Canal Dehiscence Syndrome |
| BH4-deficient hyperphenylalaninemia A | MONDO:0009863 | 1 | Phenylketonuria |
| biliary atresia | MONDO:0008867 | 1 | Alagille syndrome |
| birdshot chorioretinopathy | MONDO:0011599 | 1 | Pars Planitis |
| Blastocystis infectious disease | MONDO:0005671 | 1 | Dientamoebiasis |
| bone Paget disease | MONDO:0005382 | 1 | Morgagni-Stewart-Morel Syndrome |
| brain neoplasm | MONDO:0021211 | 1 | pseudotumor cerebri |
| cellulitis | MONDO:0005230 | 1 | Lyme Disease |
| cerebral sinovenous thrombosis | MONDO:0017993 | 1 | pseudotumor cerebri |
| CFTR-related metabolic syndrome | MONDO:0100627 | 1 | Cystic Fibrosis |
| cholesteryl ester storage disease | MONDO:0019149 | 1 | Wolman Disease |
| choroid plexus papilloma | MONDO:0009837 | 1 | choroid plexus carcinoma |
| Chronic rhinosinusitis | MONDO:0006031 | 1 | Empty Nose Syndrome |
| classic stiff person syndrome | MONDO:0018625 | 1 | Satoyoshi Syndrome |
| complete androgen insensitivity syndrome | MONDO:0021023 | 1 | 46,XY complete gonadal dysgenesis |
| complex regional pain syndrome | MONDO:0019369 | 1 | erythromelalgia |
| congenital diaphragmatic hernia | MONDO:0005711 | 1 | Scimitar Syndrome |
| congenital laryngomalacia | MONDO:0007878 | 1 | Laryngotracheoesophageal Cleft |
| congenital pulmonary sequestration | MONDO:0017843 | 1 | Scimitar Syndrome |
| congenital pulmonary venous return anomaly | MONDO:0017705 | 1 | Scimitar Syndrome |
| COVID-19 | MONDO:0100096 | 1 | Long COVID |
| Cowden syndrome | MONDO:0008021 | 1 | Peutz-Jeghers polyp |
| cryptosporidiosis | MONDO:0015474 | 1 | Giardiasis |
| Dandy-Walker syndrome | MONDO:0009072 | 1 | Joubert syndrome |
| Denys-Drash syndrome | MONDO:0008682 | 1 | Meacham syndrome |
| diabetes insipidus | MONDO:0004782 | 1 | Diabetes mellitus |
| diffuse lymphatic malformation | MONDO:0015408 | 1 | Gorham-Stout disease |
| dihydropteridine reductase deficiency | MONDO:0009862 | 1 | Phenylketonuria |
| diverticulitis | MONDO:0004235 | 1 | Meckel Diverticulum |
| Donohue syndrome | MONDO:0009517 | 1 | Ogden syndrome |
| Dorfman-Chanarin disease | MONDO:0010155 | 1 | Netherton syndrome |
| encephalitis | MONDO:0019956 | 1 | Bacterial meningitis |
| eosinophilic gastroenteritis | MONDO:0016129 | 1 | Cronkhite-Canada syndrome |
| ependymoma | MONDO:0016698 | 1 | choroid plexus carcinoma |
| erythema multiforme | MONDO:0006545 | 1 | Hand Foot and Mouth Disease |
| esophageal atresia | MONDO:0001044 | 1 | Laryngotracheoesophageal Cleft |
| esophageal varices | MONDO:0001221 | 1 | Dieulafoy Lesion |
| Familial cold autoinflammatory syndrome 1 | MONDO:0007349 | 1 | CINCA Syndrome |
| FHEIG syndrome | MONDO:0032714 | 1 | Temple-Baraitser Syndrome |
| Frasier syndrome | MONDO:0007635 | 1 | Meacham syndrome |
| gastric antral vascular ectasia | MONDO:0006767 | 1 | Dieulafoy Lesion |
| Good syndrome | MONDO:0015696 | 1 | Thymoma |
| hairy cell leukemia variant | MONDO:0017600 | 1 | Hairy Cell Leukemia |
| HELLP syndrome | MONDO:0008585 | 1 | Antiphospholipid Syndrome |
| HERC2-related Angelman-like neurodevelopmental disorder | MONDO:0014224 | 1 | Angelman Syndrome |
| hereditary spastic paraplegia | MONDO:0019064 | 1 | Kufor-Rakeb syndrome |
| herpangina | MONDO:0005791 | 1 | Hand Foot and Mouth Disease |
| herpes simplex gingivostomatitis | MONDO:0005792 | 1 | Hand Foot and Mouth Disease |
| herpes simplex infectious disease | MONDO:0004609 | 1 | Chickenpox |
| HIV infectious disease | MONDO:0005109 | 1 | Whipple Disease |
| Hurler-Scheie syndrome | MONDO:0011759 | 1 | Hurler syndrome |
| Hutchinson-Gilford progeria syndrome | MONDO:0008310 | 1 | Nestor-Guillermo progeria syndrome |
| hyperphenylalaninemia due to tetrahydrobiopterin deficiency | MONDO:0016543 | 1 | Phenylketonuria |
| hypersensitivity pneumonitis | MONDO:0017853 | 1 | Bird Fancier's Lung |
| hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism | MONDO:0007093 | 1 | Taurodontism |
| hypophosphatemia | MONDO:0000313 | 1 | Refeeding Syndrome |
| idiopathic inflammatory myopathy | MONDO:0600023 | 1 | Nemaline Myopathy |
| IgA vasculitis | MONDO:0019167 | 1 | IgA Nephropathy |
| impetigo | MONDO:0004592 | 1 | Chickenpox |
| Infantile free sialic acid storage disease | MONDO:0010027 | 1 | Salla Disease |
| infectious disease with sepsis | MONDO:1040015 | 1 | Wissler syndrome |
| infectious meningitis | MONDO:0021108 | 1 | Tetanus |
| infective arthritis | MONDO:0042485 | 1 | Lyme Disease |
| inflammatory bowel disease | MONDO:0005265 | 1 | Shigellosis |
| intellectual disability, autosomal dominant 29 | MONDO:0014482 | 1 | Schinzel-Giedion syndrome |
| intestinal perforation | MONDO:0006807 | 1 | Meckel Diverticulum |
| intestinal tuberculosis | MONDO:0001678 | 1 | Whipple Disease |
| intraocular lymphoma | MONDO:0004351 | 1 | Pars Planitis |
| intussusception | MONDO:0007835 | 1 | Meckel Diverticulum |
| Isaac syndrome | MONDO:0019399 | 1 | Satoyoshi Syndrome |
| ischemic colitis | MONDO:0000701 | 1 | Clostridioides difficile Infection |
| isolated tracheo-esophageal fistula | MONDO:0018694 | 1 | Laryngotracheoesophageal Cleft |
| Juvenile idiopathic arthritis | MONDO:0011429 | 1 | CINCA Syndrome |
| Leigh syndrome | MONDO:0009723 | 1 | NARP syndrome |
| limb ischemia | MONDO:0000491 | 1 | Ainhum |
| lupus erythematosus | MONDO:0004670 | 1 | Rosacea |
| lymphocytic colitis | MONDO:0000704 | 1 | Clostridioides difficile Infection |
| lymphogranuloma venereum | MONDO:0005834 | 1 | Hidradenitis Suppurativa |
| lymphomatoid papulosis | MONDO:0020326 | 1 | Rosacea |
| macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome | MONDO:0014716 | 1 | Houge-Janssens Syndrome |
| mandibuloacral dysplasia | MONDO:0016584 | 1 | Nestor-Guillermo progeria syndrome |
| Marshall syndrome | MONDO:0007949 | 1 | Ayme-Gripp syndrome |
| Mayer-Rokitansky-Kuster-Hauser syndrome | MONDO:0017771 | 1 | 46,XY complete gonadal dysgenesis |
| megalencephaly-capillary malformation-polymicrogyria syndrome | MONDO:0011240 | 1 | Houge-Janssens Syndrome |
| MELAS syndrome | MONDO:0010789 | 1 | NARP syndrome |
| meningeal tuberculosis | MONDO:0006042 | 1 | Bacterial meningitis |
| metabolic myopathy | MONDO:0020123 | 1 | Nemaline Myopathy |
| microscopic colitis | MONDO:0000702 | 1 | Collagenous Sprue |
| mild hyperphenylalaninemia | MONDO:0019335 | 1 | Phenylketonuria |
| Miller Fisher syndrome | MONDO:0005851 | 1 | Campylobacteriosis |
| Muckle-Wells syndrome | MONDO:0008633 | 1 | CINCA Syndrome |
| multifocal motor neuropathy | MONDO:0018979 | 1 | Amyotrophic Lateral Sclerosis |
| multiple symmetric lipomatosis | MONDO:0007908 | 1 | Proteus syndrome |
| MUTYH-associated polyposis | MONDO:0012041 | 1 | Classic Familial Adenomatous Polyposis |
| NAA10-related syndrome | MONDO:0100124 | 1 | Ogden syndrome |
| narcolepsy without cataplexy | MONDO:0019371 | 1 | Long COVID |
| Niemann-Pick disease type C | MONDO:0009757 | 1 | Salla Disease |
| Noonan syndrome with multiple lentigines | MONDO:0007893 | 1 | Noonan Syndrome |
| Olmsted syndrome | MONDO:0031421 | 1 | Ainhum |
| otosclerosis | MONDO:0005349 | 1 | Semicircular Canal Dehiscence Syndrome |
| ovarian carcinoma | MONDO:0005140 | 1 | Lynch Syndrome |
| ovarian clear cell adenocarcinoma | MONDO:0006045 | 1 | Clear Cell Ovarian Carcinoma |
| PAPASH syndrome | MONDO:0958343 | 1 | Acne Vulgaris |
| paramyotonia congenita of Von Eulenburg | MONDO:0008195 | 1 | Thomsen and Becker disease |
| pellagra | MONDO:0019975 | 1 | Arsenic Poisoning |
| peptic ulcer disease | MONDO:0004247 | 1 | Dieulafoy Lesion |
| pilonidal sinus | MONDO:0008249 | 1 | Hidradenitis Suppurativa |
| pityriasis rubra pilaris | MONDO:0100017 | 1 | Netherton syndrome |
| Plasmodium falciparum malaria | MONDO:0005920 | 1 | Leptospirosis |
| polyarteritis nodosa | MONDO:0019170 | 1 | Cogan Syndrome |
| post-traumatic stress disorder | MONDO:0005146 | 1 | FICUS syndrome |
| posterior cortical atrophy | MONDO:0018899 | 1 | Akinetopsia |
| Preeclampsia | MONDO:0005081 | 1 | Antiphospholipid Syndrome |
| primary polydipsia | MONDO:0040870 | 1 | Diabetes mellitus |
| progressive familial intrahepatic cholestasis | MONDO:0015762 | 1 | Alagille syndrome |
| reactive arthritis | MONDO:0017376 | 1 | Campylobacteriosis |
| recurrent disease | MONDO:0700096 | 1 | Clostridioides difficile Infection |
| refractory celiac disease | MONDO:0018353 | 1 | Collagenous Sprue |
| renal osteodystrophy | MONDO:0006946 | 1 | CKD-Mineral Bone Disorder |
| renal pelvis/ureter urothelial carcinoma | MONDO:0020654 | 1 | Lynch Syndrome |
| rheumatic fever | MONDO:0017767 | 1 | Wissler syndrome |
| rickettsioses | MONDO:0006956 | 1 | Leptospirosis |
| Saethre-Chotzen syndrome | MONDO:0007042 | 1 | Apert Syndrome |
| Scheie syndrome | MONDO:0011760 | 1 | Hurler syndrome |
| sebaceous adenoma | MONDO:0002375 | 1 | Lynch Syndrome |
| Senior-Loken syndrome | MONDO:0017842 | 1 | Joubert syndrome |
| sialolithiasis | MONDO:0006970 | 1 | Ludwig's Angina |
| simple renal cyst | MONDO:0004840 | 1 | Polycystic Kidney Disease |
| solitary fibrous tumor | MONDO:0016238 | 1 | Meningioma |
| Southern Tick-Associated Rash Illness | MONDO:0025294 | 1 | Lyme Disease |
| splenic diffuse red pulp small B-cell lymphoma | MONDO:0017599 | 1 | Hairy Cell Leukemia |
| splenic marginal zone lymphoma | MONDO:0019462 | 1 | Hairy Cell Leukemia |
| Stickler syndrome | MONDO:0019354 | 1 | Ayme-Gripp syndrome |
| strongyloidiasis | MONDO:0005974 | 1 | Clostridioides difficile Infection |
| syndromic craniosynostosis | MONDO:0015338 | 1 | SMAD6-related craniosynostosis |
| thrombotic thrombocytopenic purpura | MONDO:0018896 | 1 | Antiphospholipid Syndrome |
| thyrotoxic periodic paralysis | MONDO:0019201 | 1 | Refeeding Syndrome |
| tinea corporis | MONDO:0001461 | 1 | Contact Dermatitis |
| tricho-dento-osseous syndrome | MONDO:0008592 | 1 | Taurodontism |
| trisomy 13 | MONDO:0018068 | 1 | Meckel Syndrome |
| trisomy 18 | MONDO:0018071 | 1 | Meckel Syndrome |
| tuberculosis, spinal | MONDO:0043836 | 1 | Kummell Disease |
| typhoid fever | MONDO:0005619 | 1 | Malaria |
| vestibular neuronitis | MONDO:0006008 | 1 | Labyrinthitis |
| viral encephalitis | MONDO:0006009 | 1 | Lyme Disease |
| viral meningitis | MONDO:0007015 | 1 | Bacterial meningitis |
| vitamin D deficiency | MONDO:0100471 | 1 | Cadmium Poisoning |
| Waardenburg-Shah syndrome | MONDO:0019518 | 1 | PCWH syndrome |
| X-linked hypophosphatemic rickets | MONDO:0020720 | 1 | Cadmium Poisoning |
| X-linked retinoschisis | MONDO:0010725 | 1 | Stargardt Disease |
| Zimmermann-Laband syndrome | MONDO:0000200 | 1 | Temple-Baraitser Syndrome |