| pituitary gland adenoma | MONDO:0006373 | 3 | GNAS-related pituitary adenoma 3, GPR101-related pituitary adenoma 2, USP8-related pituitary adenoma 4 |
| agoraphobia | MONDO:0003709 | 2 | Panic Disorder, Social Anxiety Disorder |
| antisocial personality disorder | MONDO:0001164 | 2 | Borderline Personality Disorder, Conduct Disorder |
| Cowden syndrome | MONDO:0008021 | 2 | Peutz-Jeghers polyp, Peutz-Jeghers syndrome |
| intermittent explosive disorder | MONDO:0001521 | 2 | Conduct Disorder, Oppositional Defiant Disorder |
| Myocarditis | MONDO:0004496 | 2 | Fabry disease, Lyme Disease |
| obsessive-compulsive disorder | MONDO:0008114 | 2 | Body Dysmorphic Disorder, Tourette Syndrome |
| pseudohypoparathyroidism type 1A | MONDO:0007078 | 2 | 2q37 Microdeletion Syndrome, Acrodysostosis |
| Stickler syndrome | MONDO:0019354 | 2 | Ayme-Gripp syndrome, Stickler Syndrome Type 1 |
| stroke disorder | MONDO:0005098 | 2 | Akinetopsia, Bell's palsy |
| Usher syndrome | MONDO:0019501 | 2 | Kilquist syndrome, PHARC syndrome |
| vasculitis | MONDO:0018882 | 2 | Malignant Atrophic Papulosis, Thromboangiitis obliterans |
| 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome | MONDO:0013875 | 1 | Sengers syndrome |
| 46,XX ovarian dysgenesis-short stature syndrome | MONDO:0014520 | 1 | MCM9-related gametogenic failure |
| 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 |
| acute stress disorder | MONDO:0003763 | 1 | Post-Traumatic Stress Disorder |
| adjustment disorder | MONDO:0003265 | 1 | Post-Traumatic Stress Disorder |
| 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 |
| angiodysplasia | MONDO:0002322 | 1 | Dieulafoy Lesion |
| anti-glomerular basement membrane disease | MONDO:0009303 | 1 | Lane Hamilton Syndrome |
| appendicitis | MONDO:0005649 | 1 | Clostridioides difficile Infection |
| ARL6-related ciliopathy | MONDO:1040065 | 1 | BBSome-related retinitis pigmentosa |
| Atrophic rhinitis | MONDO:0005659 | 1 | Empty Nose Syndrome |
| attenuated familial adenomatous polyposis | MONDO:0016362 | 1 | Classic Familial Adenomatous Polyposis |
| atypical endometrial hyperplasia | MONDO:0006096 | 1 | Endometrial Carcinoma |
| avoidant/restrictive food intake disorder | MONDO:7770002 | 1 | Anorexia Nervosa |
| B-cell prolymphocytic leukemia | MONDO:0019461 | 1 | Mantle Cell Lymphoma |
| Bannayan-Riley-Ruvalcaba syndrome | MONDO:0007924 | 1 | Proteus syndrome |
| Barrett esophagus | MONDO:0013662 | 1 | Esophageal Adenocarcinoma |
| BBS1-related ciliopathy | MONDO:1040043 | 1 | BBSome-related retinitis pigmentosa |
| BBS2-related ciliopathy | MONDO:1040048 | 1 | BBSome-related retinitis pigmentosa |
| BBS9-related ciliopathy | MONDO:0700236 | 1 | BBSome-related retinitis pigmentosa |
| benign paroxysmal positional vertigo | MONDO:8000018 | 1 | Semicircular Canal Dehiscence Syndrome |
| Best vitelliform macular dystrophy | MONDO:0007931 | 1 | Hypotrichosis with Juvenile Macular Dystrophy |
| 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 |
| cardiac sarcoidosis | MONDO:0001707 | 1 | arrhythmogenic right ventricular cardiomyopathy |
| cellulitis | MONDO:0005230 | 1 | Lyme Disease |
| cerebral sinovenous thrombosis | MONDO:0017993 | 1 | pseudotumor cerebri |
| CFTR-related metabolic syndrome | MONDO:0100627 | 1 | Cystic Fibrosis |
| Charcot-Marie-Tooth disease X-linked recessive 5 | MONDO:0010699 | 1 | Arts syndrome |
| choroid plexus papilloma | MONDO:0009837 | 1 | Choroid Plexus Carcinoma |
| chronic eosinophilic leukemia | MONDO:0015687 | 1 | Hypereosinophilic syndrome |
| Chronic rhinosinusitis | MONDO:0006031 | 1 | Empty Nose Syndrome |
| classic stiff person syndrome | MONDO:0018625 | 1 | Satoyoshi Syndrome |
| COASY protein-associated neurodegeneration | MONDO:0014290 | 1 | pantothenate kinase-associated neurodegeneration |
| 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 |
| craniofacial-deafness-hand syndrome | MONDO:0007395 | 1 | PAX3-Related Waardenburg Syndrome |
| cryptosporidiosis | MONDO:0015474 | 1 | Giardiasis |
| Dandy-Walker syndrome | MONDO:0009072 | 1 | Joubert syndrome |
| delusional disorder | MONDO:0004359 | 1 | Body Dysmorphic Disorder |
| 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 |
| disorder of plasmalogens biosynthesis | MONDO:0017986 | 1 | Rhizomelic Chondrodysplasia Punctata, Plasmalogen-Synthesis Defect |
| Donohue syndrome | MONDO:0009517 | 1 | Ogden syndrome |
| DPM1-congenital disorder of glycosylation | MONDO:0012123 | 1 | MPDU1-congenital disorder of glycosylation |
| DPM2-congenital disorder of glycosylation | MONDO:0014023 | 1 | MPDU1-congenital disorder of glycosylation |
| DPM3-congenital disorder of glycosylation | MONDO:0013049 | 1 | MPDU1-congenital disorder of glycosylation |
| eating disorder | MONDO:0005451 | 1 | Body Dysmorphic Disorder |
| EEM syndrome | MONDO:0009155 | 1 | Hypotrichosis with Juvenile Macular Dystrophy |
| 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 varices | MONDO:0001221 | 1 | Dieulafoy Lesion |
| Familial cold autoinflammatory syndrome 1 | MONDO:0007349 | 1 | CINCA Syndrome |
| familial hemiplegic migraine | MONDO:0000700 | 1 | Alternating Hemiplegia of Childhood |
| familial isolated pituitary adenoma | MONDO:0017824 | 1 | AIP-related pituitary adenoma predisposition |
| fatty acyl-CoA reductase 1 upregulation | MONDO:0100230 | 1 | Rhizomelic Chondrodysplasia Punctata, Plasmalogen-Synthesis Defect |
| FHEIG syndrome | MONDO:0032714 | 1 | Temple-Baraitser Syndrome |
| Frasier syndrome | MONDO:0007635 | 1 | Meacham syndrome |
| Fryns syndrome | MONDO:0009253 | 1 | Meacham syndrome |
| gastric antral vascular ectasia | MONDO:0006767 | 1 | Dieulafoy Lesion |
| Good syndrome | MONDO:0015696 | 1 | Thymoma |
| growth hormone secreting pituitary adenoma 1 | MONDO:0007052 | 1 | AIP-related pituitary adenoma predisposition |
| hairy cell leukemia variant | MONDO:0017600 | 1 | Hairy Cell Leukemia |
| HDR syndrome | MONDO:0007797 | 1 | deafness-lymphedema-leukemia syndrome |
| HELLP syndrome | MONDO:0008585 | 1 | Antiphospholipid Syndrome |
| hepatic veno-occlusive disease | MONDO:0019514 | 1 | Hepatic veno-occlusive disease-immunodeficiency syndrome |
| HERC2-related Angelman-like neurodevelopmental disorder | MONDO:0014224 | 1 | Angelman 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 |
| hyperkalemic periodic paralysis | MONDO:0008224 | 1 | Thomsen and Becker disease |
| hyperparathyroidism | MONDO:0001741 | 1 | Idiopathic Phalangeal Acro-osteolysis |
| hyperphenylalaninemia due to tetrahydrobiopterin deficiency | MONDO:0016543 | 1 | Phenylketonuria |
| hyperthyroidism | MONDO:0004425 | 1 | Panic Disorder |
| hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism | MONDO:0007093 | 1 | Taurodontism |
| hypophosphatemia | MONDO:0000313 | 1 | Refeeding Syndrome |
| idiopathic hypereosinophilic syndrome | MONDO:0011895 | 1 | Eosinophilic granulomatosis with polyangiitis |
| idiopathic inflammatory myopathy | MONDO:0600023 | 1 | Nemaline Myopathy |
| IFAP syndrome | MONDO:0100212 | 1 | Keratosis follicularis spinulosa decalvans |
| immune thrombocytopenia | MONDO:0002048 | 1 | Platelet-Type von Willebrand Disease |
| 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 |
| intestinal tuberculosis | MONDO:0001678 | 1 | Whipple Disease |
| intraocular lymphoma | MONDO:0004351 | 1 | Pars Planitis |
| Isaac syndrome | MONDO:0019399 | 1 | Satoyoshi Syndrome |
| ischemic colitis | MONDO:0000701 | 1 | Clostridioides difficile Infection |
| isolated tracheo-esophageal fistula | MONDO:0018694 | 1 | Laryngotracheoesophageal Cleft |
| konzo | MONDO:0022666 | 1 | Lathyrism |
| legionnaires' disease | MONDO:0005824 | 1 | Pontiac Fever |
| leiomyoma | MONDO:0001572 | 1 | Endometrial Carcinoma |
| limb ischemia | MONDO:0000491 | 1 | Ainhum |
| limb-girdle muscular dystrophy | MONDO:0016971 | 1 | Glycogen Storage Disease XV |
| 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 |
| lysosomal storage disease | MONDO:0002561 | 1 | Bohring-Opitz syndrome |
| 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 |
| meningeal tuberculosis | MONDO:0006042 | 1 | Bacterial meningitis |
| metabolic myopathy | MONDO:0020123 | 1 | Nemaline Myopathy |
| microscopic colitis | MONDO:0000702 | 1 | Collagenous Sprue |
| microscopic polyangiitis | MONDO:0019124 | 1 | Eosinophilic granulomatosis with polyangiitis |
| mild hyperphenylalaninemia | MONDO:0019335 | 1 | Phenylketonuria |
| Miller Fisher syndrome | MONDO:0005851 | 1 | Campylobacteriosis |
| Milroy disease | MONDO:0007919 | 1 | deafness-lymphedema-leukemia syndrome |
| mitochondrial disease | MONDO:0044970 | 1 | Adenosine Kinase Deficiency |
| mitochondrial short-chain Enoyl-CoA hydratase 1 deficiency | MONDO:0014563 | 1 | 3-hydroxyisobutyryl-CoA hydrolase deficiency |
| MKKS-related ciliopathy | MONDO:1040050 | 1 | McKusick-Kaufman syndrome |
| 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 |
| myotonic dystrophy type 2 | MONDO:0011266 | 1 | Thomsen and Becker disease |
| 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 |
| nodular lymphocyte predominant Hodgkin lymphoma | MONDO:0044778 | 1 | Classic Hodgkin Lymphoma |
| 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 |
| Pearson syndrome | MONDO:0010797 | 1 | Myopathy, Lactic Acidosis, and Sideroblastic Anemia |
| 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 |
| PLA2G6-associated neurodegeneration | MONDO:0017998 | 1 | Schindler Disease |
| Plasmodium falciparum malaria | MONDO:0005920 | 1 | Leptospirosis |
| PMM2-congenital disorder of glycosylation | MONDO:0008907 | 1 | DK1-congenital disorder of glycosylation |
| polyarteritis nodosa | MONDO:0019170 | 1 | Cogan Syndrome |
| posterior cortical atrophy | MONDO:0018899 | 1 | Akinetopsia |
| potassium-aggravated myotonia | MONDO:0018959 | 1 | Thomsen and Becker disease |
| primary mediastinal large B-cell lymphoma | MONDO:0020323 | 1 | Classic Hodgkin Lymphoma |
| primary polydipsia | MONDO:0040870 | 1 | Diabetes mellitus |
| progressive familial intrahepatic cholestasis | MONDO:0015762 | 1 | Alagille syndrome |
| psychotic disorder | MONDO:0005485 | 1 | Dissociative Identity Disorder |
| RASopathy | MONDO:0021060 | 1 | Bohring-Opitz syndrome |
| reactive arthritis | MONDO:0017376 | 1 | Campylobacteriosis |
| 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 |
| retinitis pigmentosa 51 | MONDO:0013274 | 1 | BBSome-related retinitis pigmentosa |
| retinitis pigmentosa 55 | MONDO:0013312 | 1 | BBSome-related retinitis pigmentosa |
| rheumatic fever | MONDO:0017767 | 1 | Wissler syndrome |
| rhizomelic chondrodysplasia punctata type 5 | MONDO:0014743 | 1 | Rhizomelic Chondrodysplasia Punctata, Plasmalogen-Synthesis Defect |
| rickettsioses | MONDO:0006956 | 1 | Leptospirosis |
| Roberts-SC phocomelia syndrome | MONDO:0100253 | 1 | Warsaw breakage syndrome |
| 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 |
| severe combined immunodeficiency | MONDO:0015974 | 1 | Hepatic veno-occlusive disease-immunodeficiency syndrome |
| sialolithiasis | MONDO:0006970 | 1 | Ludwig's Angina |
| simple renal cyst | MONDO:0004840 | 1 | Polycystic Kidney Disease |
| specific learning disability | MONDO:0016225 | 1 | Attention Deficit-Hyperactivity Disorder |
| splenic diffuse red pulp small B-cell lymphoma | MONDO:0017599 | 1 | Hairy Cell Leukemia |
| splenic marginal zone lymphoma | MONDO:0019462 | 1 | Hairy Cell Leukemia |
| stereotypic movement disorder | MONDO:0002265 | 1 | Tourette Syndrome |
| strongyloidiasis | MONDO:0005974 | 1 | Clostridioides difficile Infection |
| substance-related disorder | MONDO:0002494 | 1 | Post-Traumatic Stress Disorder |
| syndromic craniosynostosis | MONDO:0015338 | 1 | SMAD6-related craniosynostosis |
| Teebi hypertelorism syndrome | MONDO:0030639 | 1 | Opitz G/BBB syndrome |
| thrombotic thrombocytopenic purpura | MONDO:0018896 | 1 | Antiphospholipid Syndrome |
| thyrotoxic periodic paralysis | MONDO:0019201 | 1 | Refeeding Syndrome |
| tic disorder | MONDO:0002420 | 1 | Tourette Syndrome |
| tinea corporis | MONDO:0001461 | 1 | Contact Dermatitis |
| transient ischemic attack | MONDO:0005264 | 1 | Migraine with aura |
| Treacher Collins syndrome | MONDO:0007944 | 1 | Bohring-Opitz syndrome |
| tricho-dento-osseous syndrome | MONDO:0008592 | 1 | Taurodontism |
| trichothiodystrophy | MONDO:0018053 | 1 | Xeroderma Pigmentosum |
| trisomy 13 | MONDO:0018068 | 1 | Meckel Syndrome |
| trisomy 18 | MONDO:0018071 | 1 | Meckel Syndrome |
| tropical spastic paraparesis | MONDO:0008039 | 1 | Lathyrism |
| TTC8-related ciliopathy | MONDO:1040049 | 1 | BBSome-related retinitis pigmentosa |
| tuberculosis, spinal | MONDO:0043836 | 1 | Kummell Disease |
| typhoid fever | MONDO:0005619 | 1 | Malaria |
| uterine corpus sarcoma | MONDO:0005210 | 1 | Endometrial Carcinoma |
| 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 |
| von Willebrand disease type 2B | MONDO:0015629 | 1 | Platelet-Type von Willebrand Disease |
| X-linked deafness | MONDO:0020768 | 1 | Arts syndrome |
| X-linked hypophosphatemic rickets | MONDO:0020720 | 1 | Cadmium Poisoning |
| X-linked retinoschisis | MONDO:0010725 | 1 | Stargardt Disease |
| X-linked sideroblastic anemia 1 | MONDO:0020721 | 1 | Myopathy, Lactic Acidosis, and Sideroblastic Anemia |