| myocarditis | MONDO:0004496 | 4 | arrhythmogenic right ventricular cardiomyopathy, Fabry disease, Lyme Disease, Naxos disease |
| mitochondrial disease | MONDO:0044970 | 3 | ABCC9-Related Intellectual Disability and Myopathy Syndrome, Adenosine Kinase Deficiency, AFG2A-Related Encephalopathy |
| pituitary gland adenoma | MONDO:0006373 | 3 | GNAS-related pituitary adenoma 3, GPR101-related pituitary adenoma 2, USP8-related pituitary adenoma 4 |
| 3p25.3 microdeletion syndrome | MONDO:0018564 | 2 | BRPF1-Related Intellectual Disability, SETD5 Haploinsufficiency Syndrome |
| agoraphobia | MONDO:0003709 | 2 | Panic Disorder, Social Anxiety Disorder |
| Allergic rhinitis | MONDO:0011786 | 2 | Achoo Syndrome, Empty Nose Syndrome |
| antisocial personality disorder | MONDO:0001164 | 2 | Borderline Personality Disorder, Conduct Disorder |
| ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia | MONDO:0008842 | 2 | ADPRS-Related Stress-Induced Neurodegeneration, Ataxia-telangiectasia |
| ataxia-telangiectasia-like disorder 1 | MONDO:0024557 | 2 | Ataxia-telangiectasia, Nijmegen Breakage Syndrome-like Disorder |
| CADASIL | MONDO:0000914 | 2 | CADASIL Type 1, Migraine with aura |
| cellulitis | MONDO:0005230 | 2 | Lyme Disease, Sweet Syndrome |
| choroid plexus papilloma | MONDO:0009837 | 2 | Choroid Plexus Carcinoma, Choroid Plexus Neoplasm |
| congenital pulmonary sequestration | MONDO:0017843 | 2 | Congenital Diaphragmatic Hernia, Scimitar Syndrome |
| Cowden syndrome | MONDO:0008021 | 2 | Peutz-Jeghers polyp, Peutz-Jeghers syndrome |
| cryptosporidiosis | MONDO:0015474 | 2 | Cyclosporiasis, Giardiasis |
| Dent disease | MONDO:0015612 | 2 | Adenine Phosphoribosyltransferase Deficiency, Fanconi Renotubular Syndrome |
| drug-induced liver injury | MONDO:0005359 | 2 | Acetaminophen Hepatotoxicity, Acute Hepatitis C Virus Infection |
| encephalitis | MONDO:0019956 | 2 | Acute Disseminated Encephalomyelitis, Bacterial meningitis |
| ependymoma | MONDO:0016698 | 2 | Choroid Plexus Carcinoma, Choroid Plexus Neoplasm |
| episodic ataxia type 2 | MONDO:0007163 | 2 | ADPRS-Related Stress-Induced Neurodegeneration, Paroxysmal Dyskinesia |
| HELLP syndrome | MONDO:0008585 | 2 | Acquired Thrombotic Thrombocytopenic Purpura, Antiphospholipid Syndrome |
| intermittent explosive disorder | MONDO:0001521 | 2 | Conduct Disorder, Oppositional Defiant Disorder |
| intraocular lymphoma | MONDO:0004351 | 2 | Choroiditis, Pars Planitis |
| limb-girdle muscular dystrophy | MONDO:0016971 | 2 | Glycogen Storage Disease XV, Myofibrillar Myopathy |
| lymphomatoid papulosis | MONDO:0020326 | 2 | Acute Lichenoid Pityriasis, Rosacea |
| Mayer-Rokitansky-Kuster-Hauser syndrome | MONDO:0017771 | 2 | 46,XX Gonadal Dysgenesis, 46,XY complete gonadal dysgenesis |
| MED12-related intellectual disability syndrome | MONDO:0100000 | 2 | MED13 Syndrome, MED13L Syndrome |
| megalencephaly-capillary malformation-polymicrogyria syndrome | MONDO:0011240 | 2 | Houge-Janssens Syndrome, Microcephaly-Capillary Malformation Syndrome |
| MLASA1 (PUS1-related) | MONDO:0024553 | 2 | PUS3-Related Neurodevelopmental Disorder, PUS7-Related Neurodevelopmental Disorder |
| multifocal motor neuropathy | MONDO:0018979 | 2 | Amyotrophic Lateral Sclerosis, Progressive Muscular Atrophy |
| PMM2-congenital disorder of glycosylation | MONDO:0008907 | 2 | DK1-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation |
| renal osteodystrophy | MONDO:0006946 | 2 | CKD-Mineral Bone Disorder, Parathyroid Hyperplasia |
| spinal muscular atrophy, type 1 | MONDO:0009669 | 2 | Spinal Muscular Atrophy with Respiratory Distress Type 1, SPTBN4-Related Neurodevelopmental Disorder |
| Stickler syndrome | MONDO:0019354 | 2 | Ayme-Gripp syndrome, Stickler Syndrome Type 1 |
| substance-related disorder | MONDO:0002494 | 2 | Attention Deficit-Hyperactivity Disorder, Post-Traumatic Stress Disorder |
| trichotillomania | MONDO:0013189 | 2 | Body Dysmorphic Disorder, Obsessive-Compulsive Disorder |
| trisomy 18 | MONDO:0018071 | 2 | Chromosome 18q Deletion Syndrome, Meckel Syndrome |
| tropical spastic paraparesis | MONDO:0008039 | 2 | Konzo, Lathyrism |
| vasculitis | MONDO:0018882 | 2 | Malignant Atrophic Papulosis, Thromboangiitis obliterans |
| Zimmermann-Laband syndrome 1 | MONDO:0024526 | 2 | KCNH1 Associated Disorder, Zimmermann-Laband Syndrome |
| 14q11.2 microduplication syndrome | MONDO:0016835 | 1 | CHD8-Related Neurodevelopmental Disorder with Overgrowth |
| 15q13.3 microdeletion syndrome (the OTUD7A-containing interval) | MONDO:0012774 | 1 | OTUD6B-Related Neurodevelopmental Disorder |
| 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 |
| 46,XX ovotesticular disorder of sex development | MONDO:0016281 | 1 | 46,XX testicular disorder of sex development |
| 46,xx sex reversal 5 | MONDO:0030049 | 1 | 46,XX testicular disorder of sex development |
| 46,XY sex reversal 6 | MONDO:0013410 | 1 | PPP2R3C-Related Gonadal Dysgenesis Syndrome |
| ABCA4-related retinopathy | MONDO:0800406 | 1 | Stargardt Disease |
| ABri amyloidosis | MONDO:0008306 | 1 | ADan amyloidosis |
| acquired cystic kidney disease | MONDO:0002473 | 1 | Polycystic Kidney Disease |
| acquired Fanconi syndrome | MONDO:0060779 | 1 | Cadmium Poisoning |
| acromegaly | MONDO:0019933 | 1 | Diabetes mellitus |
| acromesomelic dysplasia 2A | MONDO:0008703 | 1 | Acromesomelic Dysplasia Maroteaux Type |
| acromesomelic dysplasia 2B | MONDO:0009231 | 1 | Acromesomelic Dysplasia Maroteaux Type |
| acromesomelic dysplasia 2C, Hunter-Thompson type | MONDO:0008717 | 1 | Acromesomelic Dysplasia Maroteaux Type |
| acute bacterial sepsis | MONDO:0005229 | 1 | Leptospirosis |
| acute biphenotypic leukemia | MONDO:0020322 | 1 | Mixed Phenotype Acute Leukemia |
| acute inflammatory demyelinating polyradiculoneuropathy | MONDO:0020347 | 1 | Acute Motor and Sensory Axonal Neuropathy |
| acute leukemia | MONDO:0010643 | 1 | Lane Hamilton Syndrome |
| acute leukemia of ambiguous lineage | MONDO:0019460 | 1 | Mixed Phenotype Acute Leukemia |
| acute motor axonal neuropathy | MONDO:0020349 | 1 | Acute Motor and Sensory Axonal Neuropathy |
| acute otitis externa | MONDO:0001051 | 1 | Otomycosis |
| acute panmyelosis with myelofibrosis | MONDO:0019455 | 1 | Acute Megakaryoblastic Leukemia |
| acute post-infectious cerebellar ataxia | MONDO:0850107 | 1 | CAPOS Syndrome |
| acute stress disorder | MONDO:0003763 | 1 | Post-Traumatic Stress Disorder |
| acute transverse myelitis | MONDO:0015342 | 1 | Acute Flaccid Myelitis |
| acute undifferentiated leukemia | MONDO:0020321 | 1 | Mixed Phenotype Acute Leukemia |
| acute zonal occult outer retinopathy | MONDO:0017298 | 1 | Acute Annular Outer Retinopathy |
| ADAT3-related intellectual disability-strabismus syndrome | MONDO:0014119 | 1 | PUS7-Related Neurodevelopmental Disorder |
| adjustment disorder | MONDO:0003265 | 1 | Post-Traumatic Stress Disorder |
| adrenal cortex carcinoma | MONDO:0006639 | 1 | Adrenal Cortex Adenoma |
| Adrenal Crisis | MONDO:0019801 | 1 | Chronic Primary Adrenal Insufficiency |
| adrenal gland myelolipoma | MONDO:0006075 | 1 | Adrenal Cortex Adenoma |
| adrenocortical insufficiency | MONDO:0000004 | 1 | Hyperinsulinemic Hypoglycemia |
| AFG2B-related neurodevelopmental disorder | MONDO:0859206 | 1 | AFG2A-Related Encephalopathy |
| Alagille syndrome due to a JAG1 point mutation | MONDO:0016862 | 1 | Alagille syndrome |
| alcoholic cardiomyopathy | MONDO:0006643 | 1 | Dilated Cardiomyopathy 1AA |
| alcoholic ketoacidosis | MONDO:0100160 | 1 | Refeeding Syndrome |
| Allergic Bronchopulmonary Aspergillosis | MONDO:0015243 | 1 | Cystic Fibrosis |
| Alopecia with intellectual disability syndrome 4 | MONDO:0030009 | 1 | Bachmann-Bupp Syndrome |
| alpha thalassemia-X-linked intellectual disability syndrome | MONDO:0010519 | 1 | PPM-X 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 |
| angioleiomyoma | MONDO:0006646 | 1 | Glomus Tumor |
| aortic aneurysm, familial thoracic 1 | MONDO:0024559 | 1 | Familial Thoracic Aortic Aneurysm and Aortic Dissection |
| aortic aneurysm, familial thoracic 10 | MONDO:0014950 | 1 | Familial Thoracic Aortic Aneurysm and Aortic Dissection |
| aortic aneurysm, familial thoracic 12 | MONDO:0030731 | 1 | Familial Thoracic Aortic Aneurysm and Aortic Dissection |
| aortic aneurysm, familial thoracic 2 | MONDO:0011770 | 1 | Familial Thoracic Aortic Aneurysm and Aortic Dissection |
| aortic aneurysm, familial thoracic 4 | MONDO:0007568 | 1 | Familial Thoracic Aortic Aneurysm and Aortic Dissection |
| aortic aneurysm, familial thoracic 6 | MONDO:0012730 | 1 | Familial Thoracic Aortic Aneurysm and Aortic Dissection |
| aortic aneurysm, familial thoracic 7 | MONDO:0013418 | 1 | Familial Thoracic Aortic Aneurysm and Aortic Dissection |
| aortic aneurysm, familial thoracic 8 | MONDO:0014187 | 1 | Familial Thoracic Aortic Aneurysm and Aortic Dissection |
| aortic aneurysm, familial thoracic 9 | MONDO:0014514 | 1 | Familial Thoracic Aortic Aneurysm and Aortic Dissection |
| AP2M1-related intellectual developmental disorder with seizures | MONDO:0032823 | 1 | Cardiofacioneurodevelopmental Syndrome |
| aplasia cutis-enamel dysplasia syndrome | MONDO:0968978 | 1 | Adams-Oliver Syndrome |
| appendicitis | MONDO:0005649 | 1 | Clostridioides difficile Infection |
| ARL6-related ciliopathy | MONDO:1040065 | 1 | BBSome-related retinitis pigmentosa |
| arrhythmogenic right ventricular dysplasia 1 | MONDO:0007152 | 1 | Rienhoff Syndrome |
| arrhythmogenic right ventricular dysplasia 10 | MONDO:0012434 | 1 | arrhythmogenic right ventricular cardiomyopathy |
| arrhythmogenic right ventricular dysplasia 11 | MONDO:0012506 | 1 | arrhythmogenic right ventricular cardiomyopathy |
| arrhythmogenic right ventricular dysplasia 5 | MONDO:0011459 | 1 | arrhythmogenic right ventricular cardiomyopathy |
| arthrogryposis, renal dysfunction, and cholestasis 1 | MONDO:0008822 | 1 | Arthrogryposis-Renal Dysfunction-Cholestasis Syndrome |
| arthrogryposis, renal dysfunction, and cholestasis 2 | MONDO:0013255 | 1 | Arthrogryposis-Renal Dysfunction-Cholestasis Syndrome |
| ataxia - oculomotor apraxia type 4 | MONDO:0014557 | 1 | ADPRS-Related Stress-Induced Neurodegeneration |
| Atrophic rhinitis | MONDO:0005659 | 1 | Empty Nose Syndrome |
| attenuated familial adenomatous polyposis | MONDO:0016362 | 1 | Classic Familial Adenomatous Polyposis |
| atypical choroid plexus papilloma | MONDO:0002684 | 1 | Choroid Plexus Neoplasm |
| atypical endometrial hyperplasia | MONDO:0006096 | 1 | Endometrial Carcinoma |
| autosomal dominant Ehlers-Danlos syndrome, vascular type | MONDO:0007524 | 1 | Vascular Ehlers-Danlos Syndrome |
| autosomal recessive bestrophinopathy | MONDO:0012733 | 1 | BEST1-Related Dominant Retinopathy |
| autosomal recessive hyperinsulinism due to SUR1 deficiency | MONDO:0019333 | 1 | ABCC9-Related Intellectual Disability and Myopathy Syndrome |
| autosomal recessive Mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency | MONDO:0014710 | 1 | Chronic Mucocutaneous Candidiasis |
| B-cell prolymphocytic leukemia | MONDO:0019461 | 1 | Mantle Cell Lymphoma |
| Bannayan-Riley-Ruvalcaba syndrome | MONDO:0007924 | 1 | Proteus syndrome |
| bardet-biedl syndrome 21 | MONDO:0044308 | 1 | CFAP418-related retinal ciliopathy |
| 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 |
| benign spiradenoma | MONDO:0003448 | 1 | Glomus Tumor |
| Best vitelliform macular dystrophy | MONDO:0007931 | 1 | Hypotrichosis with Juvenile Macular Dystrophy |
| BH4-deficient hyperphenylalaninemia A | MONDO:0009863 | 1 | Phenylketonuria |
| bilateral perisylvian polymicrogyria | MONDO:0020340 | 1 | Severe Neonatal-Onset Encephalopathy With Microcephaly |
| biliary atresia | MONDO:0008867 | 1 | Alagille syndrome |
| birdshot chorioretinopathy | MONDO:0011599 | 1 | Pars Planitis |
| blastic plasmacytoid dendritic cell neoplasm | MONDO:0019467 | 1 | Mixed Phenotype Acute Leukemia |
| Blastocystis infectious disease | MONDO:0005671 | 1 | Dientamoebiasis |
| bone Paget disease | MONDO:0005382 | 1 | Morgagni-Stewart-Morel Syndrome |
| BPTF-related neurodevelopmental disorder (NEDDFL) | MONDO:0060596 | 1 | OTUD6B-Related Neurodevelopmental Disorder |
| brain neoplasm | MONDO:0021211 | 1 | pseudotumor cerebri |
| brain stem infarction | MONDO:0006686 | 1 | Progressive Bulbar Palsy |
| Brown-Vialetto-van Laere syndrome 1 | MONDO:0024537 | 1 | Madras Motor Neuron Disease |
| Bryant-Li-Bhoj neurodevelopmental syndrome 1 | MONDO:0030606 | 1 | Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
| Cabezas syndrome | MONDO:0010306 | 1 | Chung-Jansen Syndrome |
| Cantu syndrome | MONDO:0009406 | 1 | ABCC9-Related Intellectual Disability and Myopathy Syndrome |
| cardiac sarcoidosis | MONDO:0001707 | 1 | arrhythmogenic right ventricular cardiomyopathy |
| Carney complex | MONDO:0015285 | 1 | Familial Nonmedullary Thyroid Carcinoma |
| catecholaminergic polymorphic ventricular tachycardia 1 | MONDO:0011484 | 1 | CASQ2 CPVT |
| cerebral sinovenous thrombosis | MONDO:0017993 | 1 | pseudotumor cerebri |
| CFTR-related metabolic syndrome | MONDO:0100627 | 1 | Cystic Fibrosis |
| Charcot-Marie-Tooth disease type 2A2 | MONDO:0012231 | 1 | MSTO1-Related Mitochondrial Myopathy |
| Charcot-Marie-Tooth disease X-linked dominant 1 | MONDO:0010549 | 1 | CLCN2-Related Leukoencephalopathy |
| Charcot-Marie-Tooth disease X-linked recessive 5 | MONDO:0010699 | 1 | Arts syndrome |
| CHILD syndrome | MONDO:0010621 | 1 | MSMO1 Deficiency |
| choroideremia | MONDO:0010557 | 1 | Choroideremia-Deafness-Obesity Syndrome |
| chromosome 1p36 deletion syndrome | MONDO:0011929 | 1 | MED13L Syndrome |
| chronic eosinophilic leukemia | MONDO:0015687 | 1 | Hypereosinophilic syndrome |
| Chronic rhinosinusitis | MONDO:0006031 | 1 | Empty Nose Syndrome |
| chylomicron retention disease | MONDO:0009528 | 1 | Abetalipoproteinemia |
| circadian rhythm sleep disorder, irregular sleep wake type | MONDO:0024379 | 1 | Advanced Sleep Phase Syndrome |
| circadian rhythm sleep disorder, shift work type | MONDO:0024382 | 1 | Advanced Sleep Phase Syndrome |
| CK syndrome | MONDO:0010441 | 1 | MSMO1 Deficiency |
| classic stiff person syndrome | MONDO:0018625 | 1 | Satoyoshi Syndrome |
| CNTNAP2-related cortical dysplasia-focal epilepsy syndrome | MONDO:0012400 | 1 | SNIP1-Related Neurodevelopmental Disorder |
| COASY protein-associated neurodegeneration | MONDO:0014290 | 1 | pantothenate kinase-associated neurodegeneration |
| Coffin-Siris syndrome 10 | MONDO:0032791 | 1 | SOX11-Related Neurodevelopmental Disorder |
| Combined oxidative phosphorylation defect type 9 | MONDO:0013811 | 1 | MRPL44 Deficiency |
| complete hydatidiform mole | MONDO:0016785 | 1 | Choriocarcinoma |
| complex regional pain syndrome | MONDO:0019369 | 1 | erythromelalgia |
| cone-rod dystrophy 16 | MONDO:0013786 | 1 | CFAP418-related retinal ciliopathy |
| congenital contractural arachnodactyly | MONDO:0007363 | 1 | Rienhoff Syndrome |
| congenital dyserythropoietic anemia type 1 | MONDO:0020337 | 1 | VPS4A-Related Neurodevelopmental Syndrome |
| congenital dyserythropoietic anemia type 2 | MONDO:0009134 | 1 | VPS4A-Related Neurodevelopmental Syndrome |
| congenital fiber-type disproportion myopathy | MONDO:0009711 | 1 | SPTBN4-Related Neurodevelopmental Disorder |
| congenital laryngomalacia | MONDO:0007878 | 1 | Laryngotracheoesophageal Cleft |
| congenital lobar emphysema | MONDO:0007536 | 1 | Congenital Diaphragmatic Hernia |
| congenital pulmonary venous return anomaly | MONDO:0017705 | 1 | Scimitar Syndrome |
| conjunctival nevus | MONDO:0006172 | 1 | Ocular Melanoma |
| conversion disorder | MONDO:0002104 | 1 | Paroxysmal Dyskinesia |
| critical illness polyneuropathy | MONDO:0001957 | 1 | Acute Motor and Sensory Axonal Neuropathy |
| Cushing syndrome due to macronodular adrenal hyperplasia | MONDO:0009049 | 1 | Adrenal Cortex Adenoma |
| cutaneous leukocytoclastic angiitis | MONDO:0019509 | 1 | Sweet Syndrome |
| Dandy-Walker syndrome | MONDO:0009072 | 1 | Joubert syndrome |
| Deal Barratt Dillon syndrome | MONDO:0022948 | 1 | Arthrogryposis-Renal Dysfunction-Cholestasis Syndrome |
| delusional disorder | MONDO:0004359 | 1 | Body Dysmorphic Disorder |
| DEND syndrome | MONDO:0019207 | 1 | ABCC9-Related Intellectual Disability and Myopathy Syndrome |
| Denys-Drash syndrome | MONDO:0008682 | 1 | Meacham syndrome |
| Deoxyhypusine hydroxylase disorder | MONDO:0859293 | 1 | Bachmann-Bupp Syndrome |
| Deoxyhypusine synthase deficiency | MONDO:0032775 | 1 | Bachmann-Bupp Syndrome |
| Desbuquois dysplasia | MONDO:0015426 | 1 | CHST3-Related Skeletal Dysplasia |
| Desmosterolosis | MONDO:0011217 | 1 | MSMO1 Deficiency |
| developmental and epileptic encephalopathy 101 | MONDO:0030727 | 1 | GRIN1-Related Neurodevelopmental Disorder |
| developmental and epileptic encephalopathy 115 | MONDO:0968946 | 1 | SNF8-Related Neurodevelopmental Disorder |
| developmental and epileptic encephalopathy 50 (CAD-related) | MONDO:0014647 | 1 | DTYMK-Related Neurodegeneration |
| developmental and epileptic encephalopathy, 5 | MONDO:0013277 | 1 | SPTBN4-Related Neurodevelopmental Disorder |
| Developmental and epileptic encephalopathy, 87 | MONDO:0030059 | 1 | MED13 Syndrome |
| developmental delay, impaired speech, and behavioral abnormalities | MONDO:0859178 | 1 | SPTBN4-Related Neurodevelopmental Disorder |
| diabetes insipidus | MONDO:0004782 | 1 | Diabetes mellitus |
| diaphragmatic eventration | MONDO:0006726 | 1 | Congenital Diaphragmatic Hernia |
| DICER1-related tumor predisposition | MONDO:0100216 | 1 | Familial Nonmedullary Thyroid Carcinoma |
| differentiated thyroid carcinoma | MONDO:0015447 | 1 | Familial Nonmedullary Thyroid Carcinoma |
| diffuse lymphatic malformation | MONDO:0015408 | 1 | Gorham-Stout disease |
| DiGeorge syndrome | MONDO:0008564 | 1 | 22q11.2 Deletion Syndrome |
| dihydropteridine reductase deficiency | MONDO:0009862 | 1 | Phenylketonuria |
| dilated cardiomyopathy 1GG | MONDO:0013339 | 1 | SDHA-Related Neurodegeneration With Ataxia and Optic Atrophy |
| disorder of plasmalogens biosynthesis | MONDO:0017986 | 1 | Rhizomelic Chondrodysplasia Punctata, Plasmalogen-Synthesis Defect |
| disseminated intravascular coagulation | MONDO:0001243 | 1 | Acquired Thrombotic Thrombocytopenic Purpura |
| distal myopathy | MONDO:0018949 | 1 | Myofibrillar Myopathy |
| Donohue syndrome | MONDO:0009517 | 1 | Ogden syndrome |
| DPM1-congenital disorder of glycosylation | MONDO:0012123 | 1 | MPDU1-congenital disorder of glycosylation |
| DPM3-congenital disorder of glycosylation | MONDO:0013049 | 1 | MPDU1-congenital disorder of glycosylation |
| drug-induced hearing loss | MONDO:0850094 | 1 | Noise Induced Hearing Loss |
| Dursun syndrome | MONDO:0023124 | 1 | G6PC3 Deficiency |
| dystonic disorder | MONDO:0003441 | 1 | Paroxysmal Dyskinesia |
| early T-cell precursor acute lymphoblastic leukemia | MONDO:0100291 | 1 | Mixed Phenotype Acute Leukemia |
| eating disorder | MONDO:0005451 | 1 | Body Dysmorphic Disorder |
| EEM syndrome | MONDO:0009155 | 1 | Hypotrichosis with Juvenile Macular Dystrophy |
| Ehlers-Danlos syndrome, periodontitis type | MONDO:0007527 | 1 | Acatalasia |
| eosinophilia-myalgia syndrome | MONDO:0004941 | 1 | Eosinophilic Fasciitis |
| eosinophilic gastroenteritis | MONDO:0016129 | 1 | Cronkhite-Canada syndrome |
| episodic ataxia type 1 | MONDO:0008047 | 1 | Paroxysmal Dyskinesia |
| epithelioid trophoblastic tumor | MONDO:0016787 | 1 | Choriocarcinoma |
| erythema multiforme | MONDO:0006545 | 1 | Hand Foot and Mouth Disease |
| erythema nodosum | MONDO:0850231 | 1 | Sweet Syndrome |
| Escherichia coli infection | MONDO:0020920 | 1 | Shigellosis |
| esophageal candidiasis | MONDO:0001648 | 1 | Chronic Mucocutaneous Candidiasis |
| 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 hyperaldosteronism type II | MONDO:0011576 | 1 | CLCN2-Related Leukoencephalopathy |
| familial hypobetalipoproteinemia 1 | MONDO:0014252 | 1 | Abetalipoproteinemia |
| familial isolated pituitary adenoma | MONDO:0017824 | 1 | AIP-related pituitary adenoma predisposition |
| familial papillary or follicular thyroid carcinoma | MONDO:0017895 | 1 | Familial Nonmedullary Thyroid Carcinoma |
| fatty acyl-CoA reductase 1 upregulation | MONDO:0100230 | 1 | Rhizomelic Chondrodysplasia Punctata, Plasmalogen-Synthesis Defect |
| Faundes-Banka syndrome | MONDO:0859163 | 1 | Bachmann-Bupp Syndrome |
| FHEIG syndrome | MONDO:0032714 | 1 | Temple-Baraitser Syndrome |
| Frasier syndrome | MONDO:0007635 | 1 | Meacham syndrome |
| Fryns syndrome | MONDO:0009253 | 1 | Meacham syndrome |
| fulminant viral hepatitis | MONDO:0018109 | 1 | Acetaminophen Hepatotoxicity |
| gastric antral vascular ectasia | MONDO:0006767 | 1 | Dieulafoy Lesion |
| gastric neuroendocrine neoplasm | MONDO:0003111 | 1 | Gastric Adenocarcinoma |
| gastroesophageal junction adenocarcinoma | MONDO:0003219 | 1 | Gastric Adenocarcinoma |
| gastroparesis | MONDO:0006769 | 1 | Rumination Disorder |
| glomuvenous malformation | MONDO:0007672 | 1 | Glomus Tumor |
| Good syndrome | MONDO:0015696 | 1 | Thymoma |
| GRIN2A-related self-limited epilepsy with centrotemporal spikes | MONDO:1060142 | 1 | GRIN2A-Related Epileptic Encephalopathy and Intellectual Disability |
| GRIN2B-related complex neurodevelopmental disorder | MONDO:0700350 | 1 | GRIN2A-Related Epileptic Encephalopathy and Intellectual Disability |
| growth hormone secreting pituitary adenoma 1 | MONDO:0007052 | 1 | AIP-related pituitary adenoma predisposition |
| guttate psoriasis | MONDO:0023297 | 1 | Acute Lichenoid Pityriasis |
| hairy cell leukemia variant | MONDO:0017600 | 1 | Hairy Cell Leukemia |
| HDR syndrome | MONDO:0007797 | 1 | deafness-lymphedema-leukemia syndrome |
| hemangioma of choroid | MONDO:0021542 | 1 | Ocular Melanoma |
| hemophagocytic lymphohistiocytosis | MONDO:0015540 | 1 | Rosai-Dorfman Disease |
| 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 encephalitis | MONDO:0012521 | 1 | Febrile Infection-Related Epilepsy Syndrome |
| 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 |
| Holoprosencephaly | MONDO:0016296 | 1 | Agnathia-Otocephaly Complex |
| Hurler-Scheie syndrome | MONDO:0011759 | 1 | Hurler syndrome |
| hyperkalemic periodic paralysis | MONDO:0008224 | 1 | Thomsen and Becker disease |
| hyperlysinemia | MONDO:0009388 | 1 | PUS7-Related Neurodevelopmental Disorder |
| hyperparathyroidism | MONDO:0001741 | 1 | Idiopathic Phalangeal Acro-osteolysis |
| hyperthyroidism | MONDO:0004425 | 1 | Panic Disorder |
| hypertrophic cardiomyopathy 6 | MONDO:0010946 | 1 | PRKAG2 Cardiac Syndrome |
| hypogonadotropic hypogonadism | MONDO:0018555 | 1 | 46,XX Gonadal Dysgenesis |
| hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism | MONDO:0007093 | 1 | Taurodontism |
| hypoparathyroidism | MONDO:0001220 | 1 | Paroxysmal Dyskinesia |
| hypophosphatemia | MONDO:0000313 | 1 | Refeeding Syndrome |
| hypopituitarism | MONDO:0005152 | 1 | Hyperinsulinemic Hypoglycemia |
| idiopathic hypereosinophilic syndrome | MONDO:0011895 | 1 | Eosinophilic granulomatosis with polyangiitis |
| idiopathic inflammatory myopathy | MONDO:0600023 | 1 | Nemaline Myopathy |
| idiopathic pulmonary arterial hypertension | MONDO:0001999 | 1 | Alveolar capillary dysplasia with misalignment of pulmonary veins |
| IFAP syndrome | MONDO:0100212 | 1 | Keratosis follicularis spinulosa decalvans |
| Imerslund-Gräsbeck syndrome | MONDO:0009853 | 1 | Hereditary intrinsic factor deficiency |
| 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 |
| insomnia | MONDO:0013600 | 1 | Advanced Sleep Phase Syndrome |
| Intellectual developmental disorder with hypotonia and behavioral abnormalities | MONDO:0032897 | 1 | MED13 Syndrome |
| intellectual disability, X-linked 99 | MONDO:0010487 | 1 | USP9X Female-Restricted Syndromic Intellectual Disability |
| intellectual disability-hypotonia-spasticity-sleep disorder syndrome | MONDO:0014210 | 1 | SPTBN4-Related Neurodevelopmental Disorder |
| intestinal tuberculosis | MONDO:0001678 | 1 | Whipple Disease |
| INTU-related skeletal ciliopathy | MONDO:1060154 | 1 | Orofaciodigital Syndrome 17 |
| invasive hydatidiform mole | MONDO:0020549 | 1 | Choriocarcinoma |
| IRIDA syndrome | MONDO:0008788 | 1 | IREB2-Related Neurodegeneration |
| Isaac syndrome | MONDO:0019399 | 1 | Satoyoshi Syndrome |
| ischemic colitis | MONDO:0000701 | 1 | Clostridioides difficile Infection |
| isolated aniridia | MONDO:0007119 | 1 | PRR12-Related Neuroocular Syndrome |
| isolated tracheo-esophageal fistula | MONDO:0018694 | 1 | Laryngotracheoesophageal Cleft |
| isosporiasis | MONDO:0018769 | 1 | Cyclosporiasis |
| Joubert syndrome 17 | MONDO:0013824 | 1 | Acrocallosal Syndrome |
| jugulotympanic paraganglioma | MONDO:0021064 | 1 | Glomus Tumor |
| late-onset Parkinson disease | MONDO:0008199 | 1 | Parkinson's Disease |
| Lateral medullary syndrome | MONDO:0006827 | 1 | Achoo Syndrome |
| Lathosterolosis | MONDO:0011816 | 1 | MSMO1 Deficiency |
| leiomyoma | MONDO:0001572 | 1 | Endometrial Carcinoma |
| leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome | MONDO:0012622 | 1 | CLCN2-Related Leukoencephalopathy |
| limb body wall complex | MONDO:0016528 | 1 | Amniotic Band Syndrome |
| long QT syndrome | MONDO:0002442 | 1 | Andersen-Tawil Syndrome |
| Lowry-Wood syndrome | MONDO:0009191 | 1 | Microcephalic Osteodysplastic Primordial Dwarfism Type I |
| luminal A breast carcinoma | MONDO:0021116 | 1 | ER-Positive Breast Cancer |
| lung neuroendocrine neoplasm | MONDO:0005454 | 1 | Thymic Neuroendocrine Carcinoma |
| lupus erythematosus | MONDO:0004670 | 1 | Rosacea |
| lymph node tuberculosis | MONDO:0005831 | 1 | Kikuchi-Fujimoto Disease |
| lymphocytic colitis | MONDO:0000704 | 1 | Clostridioides difficile Infection |
| lymphogranuloma venereum | MONDO:0005834 | 1 | Hidradenitis Suppurativa |
| 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 |
| Marinesco-Sjogren syndrome | MONDO:0009567 | 1 | MSTO1-Related Mitochondrial Myopathy |
| Marshall syndrome | MONDO:0007949 | 1 | Ayme-Gripp syndrome |
| megalencephalic leukoencephalopathy with subcortical cysts | MONDO:0011391 | 1 | CLCN2-Related Leukoencephalopathy |
| meningeal tuberculosis | MONDO:0006042 | 1 | Bacterial meningitis |
| metabolic myopathy | MONDO:0020123 | 1 | Nemaline Myopathy |
| metachromatic leukodystrophy, adult form | MONDO:0017730 | 1 | Metachromatic Leukodystrophy |
| metachromatic leukodystrophy, juvenile form | MONDO:0009591 | 1 | Metachromatic Leukodystrophy |
| metachromatic leukodystrophy, late infantile form | MONDO:0017729 | 1 | Metachromatic Leukodystrophy |
| metaphyseal acroscyphodysplasia | MONDO:0009592 | 1 | Acrodysostosis |
| metastatic carcinoma | MONDO:0024879 | 1 | Choroid Plexus Neoplasm |
| metastatic malignant neoplasm in the eye | MONDO:0044913 | 1 | Ocular Melanoma |
| metastatic neoplasm | MONDO:0024883 | 1 | Adrenal Cortex Adenoma |
| microscopic colitis | MONDO:0000702 | 1 | Collagenous Sprue |
| mild hyperphenylalaninemia | MONDO:0019335 | 1 | Phenylketonuria |
| Miller Fisher syndrome | MONDO:0005851 | 1 | Campylobacteriosis |
| Milroy disease | MONDO:0007919 | 1 | deafness-lymphedema-leukemia syndrome |
| mitochondrial DNA depletion syndrome, myopathic form | MONDO:0012301 | 1 | MSTO1-Related Mitochondrial Myopathy |
| Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency | MONDO:0013865 | 1 | MRPL44 Deficiency |
| MKKS-related ciliopathy | MONDO:1040050 | 1 | McKusick-Kaufman syndrome |
| MNGIE (TYMP-related, MTDPS1) | MONDO:0011283 | 1 | DTYMK-Related Neurodegeneration |
| Muckle-Wells syndrome | MONDO:0008633 | 1 | CINCA Syndrome |
| mucopolysaccharidosis type I (Hurler syndrome) | MONDO:0001586 | 1 | Fountain Syndrome |
| multinodular goiter | MONDO:0000334 | 1 | Familial Nonmedullary Thyroid Carcinoma |
| multiple symmetric lipomatosis | MONDO:0007908 | 1 | Proteus syndrome |
| MUTYH-associated polyposis | MONDO:0012041 | 1 | Classic Familial Adenomatous Polyposis |
| myopericytoma | MONDO:0017349 | 1 | Glomus Tumor |
| myotonic dystrophy type 2 | MONDO:0011266 | 1 | Thomsen and Becker disease |
| NAA10-related syndrome | MONDO:0100124 | 1 | Ogden syndrome |
| Nager acrofacial dysostosis | MONDO:0007943 | 1 | Agnathia-Otocephaly Complex |
| narcolepsy without cataplexy | MONDO:0019371 | 1 | Long COVID |
| nephrolithiasis susceptibility caused by SLC26A1 | MONDO:0020722 | 1 | SLC26A1-Related Oxalate Transporter Deficiency |
| Neu-Laxova syndrome 2 | MONDO:0014466 | 1 | 3-Phosphoglycerate Dehydrogenase Deficiency |
| neurodegeneration with brain iron accumulation 2A | MONDO:0024457 | 1 | Neurodegeneration With Brain Iron Accumulation |
| neurodevelopmental disorder with involuntary movements | MONDO:0060491 | 1 | GNAO1-Related Developmental and Epileptic Encephalopathy |
| neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant | MONDO:0013655 | 1 | GRIN1-Related Neurodevelopmental Disorder |
| neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive | MONDO:0060629 | 1 | GRIN1-Related Neurodevelopmental Disorder |
| neuronal ceroid lipofuscinosis 5 | MONDO:0009745 | 1 | Neuronal Ceroid Lipofuscinosis |
| new-onset refractory status epilepticus | MONDO:0018199 | 1 | Febrile Infection-Related Epilepsy Syndrome |
| Nicolaides-Baraitser syndrome | MONDO:0011053 | 1 | Blepharophimosis-Impaired Intellectual Development Syndrome |
| Niemann-Pick disease type C | MONDO:0009757 | 1 | Salla Disease |
| Nizon-Isidor syndrome | MONDO:0030030 | 1 | MED13 Syndrome |
| nodular lymphocyte predominant Hodgkin lymphoma | MONDO:0044778 | 1 | Classic Hodgkin Lymphoma |
| non-24-hour sleep-wake syndrome | MONDO:0019137 | 1 | Advanced Sleep Phase Syndrome |
| non-gestational ovarian choriocarcinoma | MONDO:0004322 | 1 | Choriocarcinoma |
| non-Hodgkin lymphoma | MONDO:0018908 | 1 | Kikuchi-Fujimoto Disease |
| obsessive-compulsive personality disorder | MONDO:0001158 | 1 | Obsessive-Compulsive Disorder |
| ocular surface squamous neoplasia | MONDO:0971056 | 1 | Ocular Melanoma |
| ocular tuberculosis | MONDO:0006876 | 1 | Choroiditis |
| oculopharyngeal muscular dystrophy | MONDO:0008116 | 1 | Autosomal Dominant Progressive External Ophthalmoplegia |
| orofacial cleft | MONDO:0000358 | 1 | Siderius Type X-Linked Intellectual Disability |
| otosclerosis | MONDO:0005349 | 1 | Semicircular Canal Dehiscence Syndrome |
| OTUD5-related multiple congenital anomalies-neurodevelopmental syndrome (MCAND) | MONDO:0025351 | 1 | OTUD6B-Related Neurodevelopmental Disorder |
| ovarian carcinoma | MONDO:0005140 | 1 | Lynch Syndrome |
| ovarian clear cell adenocarcinoma | MONDO:0006045 | 1 | Clear Cell Ovarian Carcinoma |
| palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome | MONDO:0012530 | 1 | 46,XX testicular disorder of sex development |
| pancreatic insulinoma | MONDO:0024677 | 1 | Hyperinsulinemic Hypoglycemia |
| paraganglioma | MONDO:0000448 | 1 | Thymic Neuroendocrine Carcinoma |
| paramyotonia congenita of Von Eulenburg | MONDO:0008195 | 1 | Thomsen and Becker disease |
| Pelizaeus-Merzbacher disease, classic form | MONDO:0017222 | 1 | Allan-Herndon-Dudley Syndrome |
| peptic ulcer disease | MONDO:0004247 | 1 | Dieulafoy Lesion |
| perinatal asphyxia | MONDO:0006663 | 1 | Severe Neonatal-Onset Encephalopathy With Microcephaly |
| Perrault syndrome | MONDO:0017312 | 1 | 46,XX Gonadal Dysgenesis |
| pheochromocytoma | MONDO:0008233 | 1 | Adrenal Cortex Adenoma |
| pheochromocytoma/paraganglioma syndrome 5 | MONDO:0013602 | 1 | SDHA-Related Neurodegeneration With Ataxia and Optic Atrophy |
| pilonidal sinus | MONDO:0008249 | 1 | Hidradenitis Suppurativa |
| pityriasis rubra pilaris | MONDO:0100017 | 1 | Netherton syndrome |
| PLA2G6-associated neurodegeneration | MONDO:0017998 | 1 | Schindler Disease |
| placental site trophoblastic tumor | MONDO:0020552 | 1 | Choriocarcinoma |
| Plasmodium falciparum malaria | MONDO:0005920 | 1 | Leptospirosis |
| poliomyelitis | MONDO:0017373 | 1 | Acute Flaccid Myelitis |
| polyarteritis nodosa | MONDO:0019170 | 1 | Cogan Syndrome |
| potassium-aggravated myotonia | MONDO:0018959 | 1 | Thomsen and Becker disease |
| predisposition to invasive fungal disease due to CARD9 deficiency | MONDO:0008905 | 1 | Chronic Mucocutaneous Candidiasis |
| presbycusis | MONDO:0043765 | 1 | Noise Induced Hearing Loss |
| 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 |
| proximal spinal muscular atrophy | MONDO:0019079 | 1 | Spinal Muscular Atrophy |
| PSAT deficiency | MONDO:0012596 | 1 | 3-Phosphoglycerate Dehydrogenase Deficiency |
| pseudoachondroplasia | MONDO:0008322 | 1 | Achondroplasia |
| pseudohypoparathyroidism type 1A | MONDO:0007078 | 1 | Acrodysostosis |
| PSPH deficiency | MONDO:0013531 | 1 | 3-Phosphoglycerate Dehydrogenase Deficiency |
| psychotic disorder | MONDO:0005485 | 1 | Dissociative Identity Disorder |
| pyoderma gangrenosum | MONDO:0018824 | 1 | Sweet Syndrome |
| pyridoxine-dependent epilepsy | MONDO:0009945 | 1 | Early-Infantile Developmental and Epileptic Encephalopathy |
| rapid-onset dystonia-parkinsonism | MONDO:0007496 | 1 | CAPOS Syndrome |
| RASopathy | MONDO:0021060 | 1 | Bohring-Opitz syndrome |
| reactive arthritis | MONDO:0017376 | 1 | Campylobacteriosis |
| refractory celiac disease | MONDO:0018353 | 1 | Collagenous Sprue |
| renal coloboma syndrome | MONDO:0007352 | 1 | PRR12-Related Neuroocular Syndrome |
| renal pelvis/ureter urothelial carcinoma | MONDO:0020654 | 1 | Lynch Syndrome |
| resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha | MONDO:0034216 | 1 | Allan-Herndon-Dudley Syndrome |
| retinitis pigmentosa 51 | MONDO:0013274 | 1 | BBSome-related retinitis pigmentosa |
| retinitis pigmentosa 55 | MONDO:0013312 | 1 | BBSome-related retinitis pigmentosa |
| retinitis pigmentosa 64 | MONDO:0800359 | 1 | CFAP418-related retinal ciliopathy |
| 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 |
| Scheie syndrome | MONDO:0011760 | 1 | Hurler syndrome |
| sebaceous adenoma | MONDO:0002375 | 1 | Lynch Syndrome |
| self-limited familial neonatal epilepsy | MONDO:0100023 | 1 | Early-Infantile Developmental and Epileptic Encephalopathy |
| severe X-linked intellectual disability, Gustavson type | MONDO:0010661 | 1 | Shashi X-Linked Intellectual Disability Syndrome |
| Shashi-Pena syndrome | MONDO:0014963 | 1 | Bainbridge-Ropers syndrome |
| sialolithiasis | MONDO:0006970 | 1 | Ludwig's Angina |
| simple renal cyst | MONDO:0004840 | 1 | Polycystic Kidney Disease |
| sleep-related hypermotor epilepsy | MONDO:0100631 | 1 | Paroxysmal Dyskinesia |
| Snyder-Robinson syndrome | MONDO:0010664 | 1 | Bachmann-Bupp Syndrome |
| SOX11-related complex neurodevelopmental disorder with or without congenital anomalies | MONDO:0100626 | 1 | SOX11-Related Neurodevelopmental Disorder |
| SOX2 anophthalmia syndrome | MONDO:0008799 | 1 | PRR12-Related Neuroocular Syndrome |
| spastic paraplegia 85, autosomal recessive | MONDO:0030512 | 1 | Autosomal Dominant Sensory Ataxia 1 |
| specific learning disability | MONDO:0016225 | 1 | Attention Deficit-Hyperactivity Disorder |
| Spinocerebellar ataxia 27A | MONDO:0008654 | 1 | Spinocerebellar ataxia 27B |
| spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 | MONDO:0011801 | 1 | ADPRS-Related Stress-Induced Neurodegeneration |
| spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 | MONDO:0018996 | 1 | Ataxia-telangiectasia |
| splenic diffuse red pulp small B-cell lymphoma | MONDO:0017599 | 1 | Hairy Cell Leukemia |
| spondyloepimetaphyseal dysplasia, Maroteaux type | MONDO:0008473 | 1 | Acromesomelic Dysplasia Maroteaux Type |
| stereotypic movement disorder | MONDO:0002265 | 1 | Tourette Syndrome |
| stroke disorder | MONDO:0005098 | 1 | Bell's palsy |
| strongyloidiasis | MONDO:0005974 | 1 | Clostridioides difficile Infection |
| sudden sensorineural hearing loss | MONDO:0043373 | 1 | Noise Induced Hearing Loss |
| syndromic craniosynostosis | MONDO:0015338 | 1 | SMAD6-related craniosynostosis |
| syndromic intellectual disability | MONDO:0000508 | 1 | Bainbridge-Ropers syndrome |
| syndromic microphthalmia type 5 | MONDO:0012413 | 1 | PRR12-Related Neuroocular Syndrome |
| syphilis | MONDO:0005976 | 1 | Choroiditis |
| syringomyelia | MONDO:0017987 | 1 | Monomelic Amyotrophy |
| Teebi hypertelorism syndrome | MONDO:0030639 | 1 | Opitz G/BBB syndrome |
| Tetra-amelia syndrome | MONDO:0010110 | 1 | Agnathia-Otocephaly Complex |
| tetralogy of Fallot | MONDO:0008542 | 1 | Double Outlet Right Ventricle |
| thrombotic thrombocytopenic purpura | MONDO:0018896 | 1 | Antiphospholipid Syndrome |
| thymic neuroendocrine tumor | MONDO:0019964 | 1 | Thymic Neuroendocrine Carcinoma |
| 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 |
| transient myeloproliferative syndrome | MONDO:0008040 | 1 | Acute Megakaryoblastic Leukemia |
| Treacher Collins syndrome | MONDO:0007944 | 1 | Bohring-Opitz syndrome |
| tricho-dento-osseous syndrome | MONDO:0008592 | 1 | Taurodontism |
| trimethylaminuria | MONDO:0011182 | 1 | Trimethylaminuria |
| trisomy 13 | MONDO:0018068 | 1 | Meckel Syndrome |
| TTC8-related ciliopathy | MONDO:1040049 | 1 | BBSome-related retinitis pigmentosa |
| tuberculosis, spinal | MONDO:0043836 | 1 | Kummell Disease |
| Turner syndrome | MONDO:0019499 | 1 | 46,XX Gonadal Dysgenesis |
| typhoid fever | MONDO:0005619 | 1 | Malaria |
| uterine corpus sarcoma | MONDO:0005210 | 1 | Endometrial Carcinoma |
| van den Ende-Gupta syndrome | MONDO:0010959 | 1 | Congenital Heart Defects and Skeletal Malformations Syndrome |
| Vasomotor rhinitis | MONDO:0006004 | 1 | Achoo Syndrome |
| velocardiofacial syndrome | MONDO:0008644 | 1 | 22q11.2 Deletion Syndrome |
| vestibular neuronitis | MONDO:0006008 | 1 | Labyrinthitis |
| viral meningitis | MONDO:0007015 | 1 | Bacterial meningitis |
| viral myocarditis | MONDO:0023161 | 1 | Dilated Cardiomyopathy 1AA |
| vitamin D deficiency | MONDO:0100471 | 1 | Cadmium Poisoning |
| von Willebrand disease type 2B | MONDO:0015629 | 1 | Platelet-Type von Willebrand Disease |
| Werner syndrome | MONDO:0010196 | 1 | Familial Nonmedullary Thyroid Carcinoma |
| White-Kernohan syndrome | MONDO:0859169 | 1 | Chung-Jansen Syndrome |
| Wolcott-Rallison syndrome | MONDO:0009192 | 1 | Microcephaly, Short Stature, and Impaired Glucose Metabolism 2 |
| X-linked deafness | MONDO:0020768 | 1 | Arts syndrome |
| X-linked hypophosphatemic rickets | MONDO:0020720 | 1 | Cadmium Poisoning |
| X-linked mixed hearing loss with perilymphatic gusher | MONDO:0010576 | 1 | Choroideremia-Deafness-Obesity Syndrome |
| X-linked retinoschisis | MONDO:0010725 | 1 | Stargardt Disease |
| X-linked sideroblastic anemia 1 | MONDO:0020721 | 1 | Myopathy, Lactic Acidosis, and Sideroblastic Anemia |
| X-linked sideroblastic anemia with ataxia | MONDO:0010524 | 1 | IREB2-Related Neurodegeneration |
| ZMIZ1-related neurodevelopmental disorder (NEDDFSA) | MONDO:0032855 | 1 | OTUD6B-Related Neurodevelopmental Disorder |