| Stickler syndrome | MONDO:0019354 | 5 | Ayme-Gripp syndrome, Cleft Palate, Proliferative Retinopathy, and Developmental Delay, Stickler Syndrome Type 1, Stickler Syndrome Type 2, Stickler Syndrome Type 6 |
| Usher syndrome | MONDO:0019501 | 5 | Cone-rod dystrophy and hearing loss 1, Cone-rod dystrophy and hearing loss 2, Kilquist syndrome, Perrault Syndrome, PHARC syndrome |
| familial hypertrophic cardiomyopathy | MONDO:0024573 | 4 | Hypertrophic Cardiomyopathy 21, Hypertrophic Cardiomyopathy 25, Hypertrophic Cardiomyopathy 9, KLHL24-Related Hypertrophic Cardiomyopathy |
| 3p25.3 microdeletion syndrome | MONDO:0018564 | 3 | 3p- Syndrome, BRPF1-Related Intellectual Disability, SETD5 Haploinsufficiency Syndrome |
| branchiootorenal syndrome 1 | MONDO:0007236 | 3 | EYA1-Related Branchiootorenal Spectrum Disorder, Hypoparathyroidism-Deafness-Renal Disease Syndrome, Townes-Brocks Syndrome 1 |
| complete androgen insensitivity syndrome | MONDO:0021023 | 3 | 46,XY complete gonadal dysgenesis, Mayer-Rokitansky-Kuster-Hauser_Syndrome, Meacham syndrome |
| Cowden syndrome | MONDO:0008021 | 3 | Bannayan-Riley-Ruvalcaba Syndrome, Peutz-Jeghers polyp, Peutz-Jeghers syndrome |
| limb-girdle muscular dystrophy | MONDO:0016971 | 3 | Becker Muscular Dystrophy, Glycogen Storage Disease XV, Myofibrillar Myopathy |
| 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 |
| reactive arthritis | MONDO:0017376 | 3 | Campylobacteriosis, Yersinia Enterocolitica Infectious Disease, Yersinia Pseudotuberculosis Infectious Disease |
| retinitis pigmentosa | MONDO:0019200 | 3 | Acute Annular Outer Retinopathy, BBSome-related retinitis pigmentosa, ReNU Syndrome |
| VACTERL association | MONDO:0008642 | 3 | Fanconi_Anemia, Neurodevelopmental Disorder with Hypotonia, Feeding Difficulties, Facial Dysmorphism, and Brain Abnormalities, Townes-Brocks Syndrome 1 |
| 22q11.2 deletion syndrome | MONDO:0008564 | 2 | 22q11.2 Deletion Syndrome, CHARGE syndrome |
| Allergic rhinitis | MONDO:0011786 | 2 | Achoo Syndrome, Empty Nose Syndrome |
| arrhythmogenic right ventricular dysplasia 1 | MONDO:0007152 | 2 | arrhythmogenic right ventricular cardiomyopathy, Rienhoff Syndrome |
| ataxia - oculomotor apraxia type 4 | MONDO:0014557 | 2 | ADPRS-Related Stress-Induced Neurodegeneration, Ataxia With Oculomotor Apraxia Type 2 |
| ataxia-telangiectasia-like disorder 1 | MONDO:0024557 | 2 | Ataxia-telangiectasia, Nijmegen Breakage Syndrome-like Disorder |
| CADDS | MONDO:0018247 | 2 | Deafness Dystonia and Cerebral Hypomyelination, Intellectual Developmental Disorder, X-Linked 114 |
| catecholaminergic polymorphic ventricular tachycardia 1 | MONDO:0011484 | 2 | CASQ2 CPVT, RYR2 CPVT |
| cellulitis | MONDO:0005230 | 2 | Lyme Disease, Sweet Syndrome |
| choroid plexus papilloma | MONDO:0009837 | 2 | Choroid Plexus Carcinoma, Choroid Plexus Neoplasm |
| COASY protein-associated neurodegeneration | MONDO:0014290 | 2 | Childhood-Onset Striatonigral Degeneration, pantothenate kinase-associated neurodegeneration |
| complex cortical dysplasia with other brain malformations 7 | MONDO:0012399 | 2 | TUBB2A/TUBB2B-related Cortical Malformation, Uner Tan Syndrome |
| congenital pulmonary sequestration | MONDO:0017843 | 2 | Congenital Diaphragmatic Hernia, Scimitar Syndrome |
| cryptosporidiosis | MONDO:0015474 | 2 | Cyclosporiasis, Giardiasis |
| drug-induced liver injury | MONDO:0005359 | 2 | Acetaminophen Hepatotoxicity, Hepatitis C |
| encephalitis | MONDO:0019956 | 2 | Acute Disseminated Encephalomyelitis, Bacterial meningitis |
| encephalopathy due to GLUT1 deficiency | MONDO:0011724 | 2 | ADPRS-Related Stress-Induced Neurodegeneration, Juvenile Absence Epilepsy |
| epidermolytic ichthyosis | MONDO:0007239 | 2 | Epidermolytic Hyperkeratosis 2, KRT1 Keratinopathies |
| episodic ataxia type 2 | MONDO:0007163 | 2 | ADPRS-Related Stress-Induced Neurodegeneration, Paroxysmal Dyskinesia |
| facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome | MONDO:0032714 | 2 | Temple-Baraitser Syndrome, Zimmermann-Laband Syndrome |
| familial restrictive cardiomyopathy | MONDO:0016340 | 2 | Hypertrophic Cardiomyopathy 26, Restrictive Cardiomyopathy |
| fatty acyl-CoA reductase 1 upregulation | MONDO:0100230 | 2 | Rhizomelic Chondrodysplasia Punctata, Plasmalogen-Synthesis Defect, Spastic Paraparesis-Cataracts-Speech Delay Syndrome |
| Faundes-Banka syndrome | MONDO:0859163 | 2 | Bachmann-Bupp Syndrome, Deoxyhypusine Synthase Deficiency |
| fetal cytomegalovirus syndrome | MONDO:0017409 | 2 | Cystic Leukoencephalopathy Without Megalencephaly, DENND5A-Related Developmental and Epileptic Encephalopathy |
| hemophagocytic lymphohistiocytosis | MONDO:0015540 | 2 | Idiopathic Multicentric Castleman Disease, Rosai-Dorfman Disease |
| Hennekam lymphangiectasia-lymphedema syndrome 3 | MONDO:0032564 | 2 | Hennekam lymphangiectasia-lymphedema syndrome 1, Hennekam lymphangiectasia-lymphedema syndrome 2 |
| hereditary spastic paraplegia 55 | MONDO:0014020 | 2 | Behr Syndrome, Combined Oxidative Phosphorylation Defect Type 7 |
| Hurler-Scheie syndrome | MONDO:0011759 | 2 | Attenuated Mucopolysaccharidosis Type I, Hurler syndrome |
| hypermanganesemia with dystonia 2 | MONDO:0014864 | 2 | Hyperostosis Cranialis Interna, Manganism |
| immune-mediated necrotizing myopathy | MONDO:0016098 | 2 | Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28, Polymyositis |
| inflammatory bowel disease | MONDO:0005265 | 2 | Shigellosis, Traveler's Diarrhea |
| intraocular lymphoma | MONDO:0004351 | 2 | Choroiditis, Pars Planitis |
| lymphomatoid papulosis | MONDO:0020326 | 2 | Acute Lichenoid Pityriasis, Rosacea |
| 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 |
| metaphyseal dysplasia without hypotrichosis | MONDO:0009601 | 2 | Anauxetic dysplasia, Cartilage-hair hypoplasia |
| MLASA1 (PUS1-related) | MONDO:0024553 | 2 | PUS3-Related Neurodevelopmental Disorder, PUS7-Related Neurodevelopmental Disorder |
| mucopolysaccharidosis type 1 | MONDO:0001586 | 2 | Attenuated Mucopolysaccharidosis Type I, Fountain Syndrome |
| multifocal motor neuropathy | MONDO:0018979 | 2 | Amyotrophic Lateral Sclerosis, Progressive Muscular Atrophy |
| neurodevelopmental disorder with microcephaly and speech delay, with or without brain abnormalities | MONDO:0957218 | 2 | Distal Hereditary Motor Neuronopathy Type 9, SARS1-Related Neurodevelopmental Disorder |
| otofaciocervical syndrome | MONDO:0008163 | 2 | EYA1-Related Branchiootorenal Spectrum Disorder, PAX1-Related Otofaciocervical Syndrome |
| ovarian carcinoma | MONDO:0005140 | 2 | Lynch Syndrome, Malignant Germ Cell Tumor of Ovary |
| paramyotonia congenita of Von Eulenburg | MONDO:0008195 | 2 | Hyperkalemic Periodic Paralysis, Thomsen and Becker disease |
| pheochromocytoma/paraganglioma syndrome 5 | MONDO:0013602 | 2 | Dilated Cardiomyopathy 1GG, SDHA-Related Neurodegeneration With Ataxia and Optic Atrophy |
| primary mediastinal large B-cell lymphoma | MONDO:0020323 | 2 | Classic Hodgkin Lymphoma, Hodgkin Lymphoma |
| proximal spinal muscular atrophy | MONDO:0019079 | 2 | Becker Muscular Dystrophy, Spinal Muscular Atrophy |
| renal osteodystrophy | MONDO:0006946 | 2 | CKD-Mineral Bone Disorder, Parathyroid Hyperplasia |
| resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha | MONDO:0034216 | 2 | Allan-Herndon-Dudley Syndrome, Resistance to Thyroid Hormone Alpha |
| Rothmund-Thomson syndrome type 2 | MONDO:0016369 | 2 | Baller-Gerold Syndrome, RAPADILINO Syndrome |
| Scheie syndrome | MONDO:0011760 | 2 | Attenuated Mucopolysaccharidosis Type I, Hurler syndrome |
| Setleis syndrome | MONDO:0009203 | 2 | Ablepharon-Macrostomia Syndrome, Barber-Say Syndrome |
| spinal muscular atrophy, type 1 | MONDO:0009669 | 2 | Spinal Muscular Atrophy with Respiratory Distress Type 1, SPTBN4-Related Neurodevelopmental Disorder |
| Stuve-Wiedemann syndrome | MONDO:0031280 | 2 | IL6ST-Related Stuve-Wiedemann Syndrome, LIFR-Related Stuve-Wiedemann Syndrome |
| substance-related disorder | MONDO:0002494 | 2 | Attention Deficit-Hyperactivity Disorder, Post-Traumatic Stress Disorder |
| thrombotic thrombocytopenic purpura | MONDO:0018896 | 2 | Antiphospholipid Syndrome, HELLP Syndrome |
| Townes-Brocks syndrome | MONDO:0007142 | 2 | EYA1-Related Branchiootorenal Spectrum Disorder, Fanconi_Anemia |
| transient hypogammaglobulinemia of infancy | MONDO:0015698 | 2 | Autosomal Agammaglobulinemia, X-linked Agammaglobulinemia |
| tropical spastic paraparesis | MONDO:0008039 | 2 | Konzo, Lathyrism |
| vasculitis | MONDO:0018882 | 2 | Malignant Atrophic Papulosis, Thromboangiitis obliterans |
| vitamin D deficiency | MONDO:0100471 | 2 | Cadmium Poisoning, Vitamin D-Dependent Rickets Type 3 |
| von Willebrand disease | MONDO:0024574 | 2 | Bleeding Disorder of Unknown Cause, Hereditary von Willebrand Disease |
| Zimmermann-Laband syndrome 1 | MONDO:0024526 | 2 | KCNH1 Associated Disorder, Zimmermann-Laband Syndrome |
| Zimmermann-Laband syndrome 2 | MONDO:0014646 | 2 | Dominant Deafness-Onychodystrophy Syndrome, 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 type 3 | MONDO:0009787 | 1 | Behr 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 1 | MONDO:0020712 | 1 | 46,XY Sex Reversal 5 |
| 46,XY sex reversal 3 | MONDO:0013066 | 1 | 46,XY Sex Reversal 5 |
| 46,XY sex reversal 6 | MONDO:0013410 | 1 | PPP2R3C-Related Gonadal Dysgenesis Syndrome |
| Aarskog-Scott syndrome, X-linked | MONDO:0010589 | 1 | Autosomal Dominant Robinow Syndrome 3 |
| ABCA4-related retinopathy | MONDO:0800406 | 1 | Stargardt Disease |
| ABri amyloidosis | MONDO:0008306 | 1 | ADan amyloidosis |
| achondrogenesis type IB | MONDO:0010966 | 1 | Achondrogenesis Type IA |
| Acquired (idiopathic) aplastic anemia | MONDO:0015610 | 1 | Fanconi_Anemia |
| acquired cystic kidney disease | MONDO:0002473 | 1 | Polycystic Kidney Disease |
| acquired Fanconi syndrome | MONDO:0060779 | 1 | Cadmium Poisoning |
| acquired ichthyosis | MONDO:0018683 | 1 | Ichthyosis Vulgaris |
| acromegaly | MONDO:0019933 | 1 | Diabetes mellitus |
| acromesomelic dysplasia 2C, Hunter-Thompson type | MONDO:0008717 | 1 | Acromesomelic Dysplasia Maroteaux Type |
| actinic keratosis | MONDO:0005173 | 1 | Porokeratosis |
| acute bacterial sepsis | MONDO:0005229 | 1 | Leptospirosis |
| acute biphenotypic leukemia | MONDO:0020322 | 1 | Mixed Phenotype Acute Leukemia |
| acute endophthalmitis | MONDO:0017202 | 1 | Endophthalmitis |
| acute generalized exanthematous pustulosis | MONDO:0017384 | 1 | Allopurinol-Induced Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis |
| acute hepatitis C virus infection | MONDO:0100371 | 1 | Hepatitis C |
| 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 |
| agammaglobulinemia | MONDO:0015977 | 1 | Common Variable Immunodeficiency |
| agammaglobulinemia, autosomal recessive, due to BOB1 deficiency | MONDO:0800146 | 1 | Autosomal Agammaglobulinemia |
| Al-Raqad syndrome | MONDO:0014648 | 1 | Autosomal Recessive Non-Syndromic Intellectual Disability |
| Alagille syndrome due to 20p12 microdeletion | MONDO:0016861 | 1 | Alagille syndrome |
| Alagille syndrome due to a JAG1 point mutation | MONDO:0016862 | 1 | Alagille syndrome |
| Alagille syndrome due to a NOTCH2 point mutation | MONDO:0012439 | 1 | Alagille syndrome |
| alcohol withdrawal | MONDO:0005433 | 1 | Serotonin 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, androgenetic, 1 | MONDO:0007184 | 1 | Androgenetic Alopecia |
| alpha thalassemia-X-linked intellectual disability syndrome | MONDO:0010519 | 1 | PPM-X Syndrome |
| alpha-actinopathy | MONDO:0100084 | 1 | ACTA1-Related Nemaline Myopathy |
| Alport syndrome 3b, autosomal recessive | MONDO:0957811 | 1 | Alport Syndrome |
| alveolar echinococcosis | MONDO:0017282 | 1 | Polycystic echinococcosis |
| amebiasis | MONDO:0005644 | 1 | Giardiasis |
| Amoebiasis due to Entamoeba histolytica | MONDO:0019028 | 1 | Dientamoebiasis |
| amyotrophic lateral sclerosis type 4 | MONDO:0011223 | 1 | Ataxia With Oculomotor Apraxia Type 2 |
| angiodysplasia | MONDO:0002322 | 1 | Dieulafoy Lesion |
| angioleiomyoma | MONDO:0006646 | 1 | Glomus Tumor |
| Antley-Bixler syndrome | MONDO:0008803 | 1 | Larsen-like Syndrome B3GAT3 Type |
| 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 10 | MONDO:0012434 | 1 | arrhythmogenic right ventricular cardiomyopathy |
| arrhythmogenic right ventricular dysplasia 11 | MONDO:0012506 | 1 | arrhythmogenic right ventricular cardiomyopathy |
| arrhythmogenic right ventricular dysplasia 12 | MONDO:0012684 | 1 | arrhythmogenic right ventricular cardiomyopathy |
| arrhythmogenic right ventricular dysplasia 13 | MONDO:0000908 | 1 | arrhythmogenic right ventricular cardiomyopathy |
| arrhythmogenic right ventricular dysplasia 5 | MONDO:0011459 | 1 | arrhythmogenic right ventricular cardiomyopathy |
| arrhythmogenic right ventricular dysplasia, familial, 14 | MONDO:0030062 | 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 |
| atrial flutter | MONDO:0005310 | 1 | Atrial Fibrillation |
| atrichia with papular lesions | MONDO:0008847 | 1 | Alopecia-Intellectual Disability Syndrome 1 |
| 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 |
| atypical Werner syndrome | MONDO:0019321 | 1 | Werner Syndrome |
| autoimmune hemolytic anemia, cold type | MONDO:0016450 | 1 | Cold Agglutinin Disease |
| autoimmune primary adrenal insufficiency | MONDO:0100480 | 1 | Familial Glucocorticoid Deficiency |
| autosomal dominant Ehlers-Danlos syndrome, vascular type | MONDO:0007524 | 1 | Vascular Ehlers-Danlos Syndrome |
| autosomal dominant hypophosphatemic rickets | MONDO:0008660 | 1 | X-Linked Hypophosphatemia |
| autosomal dominant nocturnal frontal lobe epilepsy 5 | MONDO:0014002 | 1 | Developmental and Epileptic Encephalopathy 14 |
| autosomal dominant nonsyndromic hearing loss 69 | MONDO:0014738 | 1 | Waardenburg Syndrome Type 2F |
| autosomal dominant omodysplasia | MONDO:0008123 | 1 | Autosomal Dominant Robinow Syndrome 3 |
| autosomal dominant optic atrophy | MONDO:0020250 | 1 | Autosomal Dominant Optic Atrophy |
| autosomal recessive bestrophinopathy | MONDO:0012733 | 1 | BEST1-Related Dominant Retinopathy |
| Autosomal recessive cutis laxa type 2B (PYCR1) | MONDO:0013051 | 1 | Hypomyelinating Leukodystrophy 10 |
| autosomal recessive hyper-IgE syndrome | MONDO:0018037 | 1 | STK4 Deficiency |
| autosomal recessive hyperinsulinism due to SUR1 deficiency | MONDO:0019333 | 1 | ABCC9-Related Intellectual Disability and Myopathy Syndrome |
| autosomal recessive hypophosphatemic rickets | MONDO:0017324 | 1 | X-Linked Hypophosphatemia |
| autosomal recessive limb-girdle muscular dystrophy type 2A | MONDO:0009675 | 1 | Bethlem myopathy |
| autosomal recessive limb-girdle muscular dystrophy type 2G | MONDO:0011170 | 1 | Hypertrophic Cardiomyopathy 25 |
| autosomal recessive limb-girdle muscular dystrophy type R18 | MONDO:0014144 | 1 | Neurodevelopmental Disorder with Epilepsy, Spasticity, and Brain Atrophy |
| autosomal recessive Mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency | MONDO:0014710 | 1 | Chronic Mucocutaneous Candidiasis |
| autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency | MONDO:0017901 | 1 | Autosomal Dominant Mendelian Susceptibility To Mycobacterial Diseases Due To Partial IFNgammaR1 Deficiency |
| B-cell prolymphocytic leukemia | MONDO:0019461 | 1 | Mantle Cell Lymphoma |
| BAP1-related tumor predisposition syndrome | MONDO:0013692 | 1 | POT1 Tumor Predisposition Syndrome |
| bardet-biedl syndrome 21 | MONDO:0044308 | 1 | CFAP418-related retinal ciliopathy |
| Barrett esophagus | MONDO:0013662 | 1 | Esophageal Adenocarcinoma |
| basal ganglia calcification, idiopathic, 1 | MONDO:0024538 | 1 | Bilateral Striopallidodentate Calcinosis |
| basal ganglia calcification, idiopathic, 10, autosomal recessive | MONDO:0975875 | 1 | Bilateral Striopallidodentate Calcinosis |
| basal ganglia calcification, idiopathic, 11, autosomal recessive | MONDO:0980939 | 1 | Bilateral Striopallidodentate Calcinosis |
| basal ganglia calcification, idiopathic, 4 | MONDO:0014004 | 1 | Bilateral Striopallidodentate Calcinosis |
| basal ganglia calcification, idiopathic, 5 | MONDO:0014204 | 1 | Bilateral Striopallidodentate Calcinosis |
| basal ganglia calcification, idiopathic, 6 | MONDO:0014628 | 1 | Bilateral Striopallidodentate Calcinosis |
| basal ganglia calcification, idiopathic, 7, autosomal recessive | MONDO:0032673 | 1 | Bilateral Striopallidodentate Calcinosis |
| basal ganglia calcification, idiopathic, 8, autosomal recessive | MONDO:0032938 | 1 | Bilateral Striopallidodentate Calcinosis |
| basal ganglia calcification, idiopathic, 9, autosomal recessive | MONDO:0968977 | 1 | Bilateral Striopallidodentate Calcinosis |
| 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 recurrent intrahepatic cholestasis | MONDO:0019008 | 1 | Progressive Familial Intrahepatic Cholestasis |
| benign spiradenoma | MONDO:0003448 | 1 | Glomus Tumor |
| Best vitelliform macular dystrophy | MONDO:0007931 | 1 | Hypotrichosis with Juvenile Macular Dystrophy |
| beta-thalassemia-X-linked thrombocytopenia syndrome | MONDO:0010745 | 1 | Gray Platelet Syndrome |
| BH4-deficient hyperphenylalaninemia A | MONDO:0009863 | 1 | Phenylketonuria |
| bilateral perisylvian polymicrogyria | MONDO:0020340 | 1 | Severe Neonatal-Onset Encephalopathy With Microcephaly |
| birdshot chorioretinopathy | MONDO:0011599 | 1 | Pars Planitis |
| Blastocystis infectious disease | MONDO:0005671 | 1 | Dientamoebiasis |
| Bowen disease of the skin | MONDO:0020761 | 1 | Porokeratosis |
| brain neoplasm | MONDO:0021211 | 1 | pseudotumor cerebri |
| brain stem infarction | MONDO:0006686 | 1 | Progressive Bulbar Palsy |
| branchiootic syndrome 3 | MONDO:0012025 | 1 | EYA1-Related Branchiootorenal Spectrum Disorder |
| Brown-Vialetto-van Laere syndrome 1 | MONDO:0024537 | 1 | Madras Motor Neuron Disease |
| Brugada syndrome 2 | MONDO:0012728 | 1 | Brugada syndrome |
| Brugada syndrome 3 | MONDO:0012742 | 1 | Brugada syndrome |
| Brugada syndrome 4 | MONDO:0012743 | 1 | Brugada syndrome |
| Brugada syndrome 5 | MONDO:0013015 | 1 | Brugada syndrome |
| Brugada syndrome 6 | MONDO:0013145 | 1 | Brugada syndrome |
| Brugada syndrome 7 | MONDO:0013146 | 1 | Brugada syndrome |
| Brugada syndrome 8 | MONDO:0013148 | 1 | Brugada syndrome |
| Brugada syndrome 9 | MONDO:0014621 | 1 | Brugada syndrome |
| Cabezas syndrome | MONDO:0010306 | 1 | Chung-Jansen Syndrome |
| Cantu syndrome | MONDO:0009406 | 1 | ABCC9-Related Intellectual Disability and Myopathy Syndrome |
| Caplan syndrome | MONDO:0005690 | 1 | Coal Workers Pneumoconiosis |
| cardiac glycoside intoxication | MONDO:0800388 | 1 | Digitalis Poisoning |
| Carey-Fineman-Ziter syndrome | MONDO:0031415 | 1 | Bailey-Bloch Congenital Myopathy |
| Caroli syndrome | MONDO:0018808 | 1 | Caroli disease |
| Castleman-Kojima disease | MONDO:0018702 | 1 | Idiopathic Multicentric Castleman Disease |
| cerebellar ataxia | MONDO:0000437 | 1 | Adult-Onset Ataxia and Polyneuropathy |
| cerebral arteriopathy with subcortical infarcts and leukoencephalopathy | MONDO:0007432 | 1 | CADASIL Type 1 |
| cerebral lymphoma | MONDO:0003655 | 1 | Primary Central Nervous System Lymphoma |
| 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 type 4J | MONDO:0012640 | 1 | Childhood-Onset Striatonigral Degeneration |
| 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 |
| CHD7-related CHARGE syndrome | MONDO:1010178 | 1 | CHARGE syndrome |
| chemotherapy-induced toxicity | MONDO:0800390 | 1 | Chemotherapy-Induced Diarrhea |
| chondrodysplasia punctata | MONDO:0019701 | 1 | Keutel Syndrome |
| chromosome 10q23 deletion syndrome | MONDO:0012830 | 1 | WAPL-Related Developmental Disorder |
| chromosome 16p13.3 duplication syndrome | MONDO:0013273 | 1 | Menke-Hennekam Syndrome |
| chromosome Xp21 deletion syndrome | MONDO:0010399 | 1 | Isolated Glycerol Kinase Deficiency |
| chronic endophthalmitis | MONDO:0017203 | 1 | Endophthalmitis |
| chronic eosinophilic leukemia | MONDO:0015687 | 1 | Hypereosinophilic syndrome |
| chronic lymphocytic leukemia/small lymphocytic lymphoma | MONDO:0003864 | 1 | Heavy Chain Disease |
| Chronic rhinosinusitis | MONDO:0006031 | 1 | Empty Nose Syndrome |
| ciliary dyskinesia, primary, 37 | MONDO:0033204 | 1 | Spermatogenic Failure 18 |
| 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 |
| cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome | MONDO:0013208 | 1 | Manganism |
| 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 |
| Cockayne syndrome type 1 | MONDO:0019569 | 1 | Cockayne Syndrome |
| Cockayne syndrome type 2 | MONDO:0019570 | 1 | Cockayne Syndrome |
| Cockayne syndrome type 3 | MONDO:0008998 | 1 | Cockayne Syndrome |
| Coffin-Siris syndrome 10 | MONDO:0032791 | 1 | SOX11-Related Neurodevelopmental Disorder |
| Cohen-Gibson syndrome | MONDO:0060510 | 1 | KDM6B-Related Neurodevelopmental Disorder |
| Combined oxidative phosphorylation defect type 9 | MONDO:0013811 | 1 | MRPL44 Deficiency |
| combined oxidative phosphorylation deficiency 14 (COXPD14) | MONDO:0013986 | 1 | Hereditary Spastic Paraplegia 77 |
| combined pituitary hormone deficiencies, genetic form | MONDO:0013099 | 1 | Combined Pituitary Hormone Deficiencies, Genetic Form |
| complement component 4b deficiency | MONDO:0013720 | 1 | Complement Component 4A Deficiency |
| complete hydatidiform mole | MONDO:0016785 | 1 | Choriocarcinoma |
| complex cortical dysplasia with other brain malformations 1 | MONDO:0013541 | 1 | TUBB3-related Tubulinopathy |
| complex cortical dysplasia with other brain malformations 5 | MONDO:0014337 | 1 | TUBB2A/TUBB2B-related Cortical Malformation |
| complex neurodevelopmental disorder | MONDO:0100038 | 1 | ANK2-Related Complex Neurodevelopmental Disorder |
| complex neurodevelopmental disorder with or without congenital anomalies | MONDO:0100465 | 1 | Neurodevelopmental Disorder with or without Anomalies of the Brain, Eye, or Heart |
| complex regional pain syndrome | MONDO:0019369 | 1 | erythromelalgia |
| cone dystrophy 3 | MONDO:0011193 | 1 | GUCA1A-Related Retinopathy |
| cone-rod dystrophy 14 | MONDO:0800326 | 1 | GUCA1A-Related Retinopathy |
| cone-rod dystrophy 16 | MONDO:0013786 | 1 | CFAP418-related retinal ciliopathy |
| congenital bile acid synthesis defect | MONDO:0018841 | 1 | Congenital Bile Acid Synthesis Defect 5 |
| congenital bile acid synthesis defect 1 | MONDO:0011906 | 1 | Congenital Bile Acid Synthesis Defect 5 |
| congenital bile acid synthesis defect 4 | MONDO:0008967 | 1 | Alpha-Methylacyl-CoA Racemase Deficiency |
| congenital bile acid synthesis defect 6 | MONDO:0015015 | 1 | Congenital Bile Acid Synthesis Defect 5 |
| congenital contractural arachnodactyly | MONDO:0007363 | 1 | Rienhoff Syndrome |
| congenital cystic eye | MONDO:0022825 | 1 | Isolated Anophthalmia-Microphthalmia 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 lobar emphysema | MONDO:0007536 | 1 | Congenital Diaphragmatic Hernia |
| congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome | MONDO:0033683 | 1 | Bone Marrow Failure Syndrome 4 |
| congenital pulmonary venous return anomaly | MONDO:0017705 | 1 | Scimitar Syndrome |
| congenital rubella syndrome | MONDO:0017361 | 1 | Isolated Anophthalmia-Microphthalmia Syndrome |
| conjunctival nevus | MONDO:0006172 | 1 | Ocular Melanoma |
| constrictive pericarditis | MONDO:0006711 | 1 | Restrictive Cardiomyopathy |
| contractures, pterygia, and variable skeletal fusions syndrome | MONDO:0020937 | 1 | Autosomal Recessive Multiple Pterygium Syndrome |
| conversion disorder | MONDO:0002104 | 1 | Paroxysmal Dyskinesia |
| coronary artery disease | MONDO:0005010 | 1 | Dilated Cardiomyopathy 2B |
| corticobasal degeneration disorder | MONDO:0022308 | 1 | Amyotrophic Lateral Sclerosis-Parkinsonism-Dementia Complex |
| craniofacial microsomia 1 | MONDO:0958175 | 1 | Craniofacial Microsomia |
| craniofacial microsomia 2 | MONDO:0958194 | 1 | Craniofacial Microsomia |
| craniometadiaphyseal dysplasia, wormian bone type | MONDO:0010014 | 1 | Craniometadiaphyseal Osteosclerosis with Hip Dysplasia |
| craniorachischisis | MONDO:0018969 | 1 | Anencephaly |
| craniotubular dysplasia, Ikegawa type | MONDO:0859226 | 1 | Craniometadiaphyseal Osteosclerosis with Hip Dysplasia |
| 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 |
| deafness with labyrinthine aplasia, microtia, and microdontia | MONDO:0012541 | 1 | Bilateral Microtia-Deafness-Cleft Palate Syndrome |
| Deal Barratt Dillon syndrome | MONDO:0022948 | 1 | Arthrogryposis-Renal Dysfunction-Cholestasis Syndrome |
| dehydrated hereditary stomatocytosis | MONDO:0008689 | 1 | Lymphatic malformation 6 |
| delusional disorder | MONDO:0004359 | 1 | Body Dysmorphic Disorder |
| DEND syndrome | MONDO:0019207 | 1 | ABCC9-Related Intellectual Disability and Myopathy Syndrome |
| Deoxyhypusine hydroxylase disorder | MONDO:0859293 | 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 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 |
| differentiated thyroid carcinoma | MONDO:0015447 | 1 | Familial Nonmedullary Thyroid Carcinoma |
| diffuse lymphatic malformation | MONDO:0015408 | 1 | Gorham-Stout disease |
| dihydropteridine reductase deficiency | MONDO:0009862 | 1 | Phenylketonuria |
| dilated cardiomyopathy with ataxia syndrome | MONDO:0012435 | 1 | Autosomal Recessive Spondylometaphyseal Dysplasia, Megarbane Type |
| disorder of peroxisomal beta oxidation | MONDO:0019233 | 1 | Sterol Carrier Protein 2 Deficiency |
| disorder of peroxisomal transporter | MONDO:0100372 | 1 | Congenital Bile Acid Synthesis Defect 5 |
| disorder of plasmalogens biosynthesis | MONDO:0017986 | 1 | Rhizomelic Chondrodysplasia Punctata, Plasmalogen-Synthesis Defect |
| disseminated intravascular coagulation | MONDO:0001243 | 1 | Acquired Thrombotic Thrombocytopenic Purpura |
| distal hereditary motor neuronopathy, autosomal recessive 9 | MONDO:0957874 | 1 | Distal Hereditary Motor Neuronopathy Type 9 |
| 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 |
| DRESS syndrome | MONDO:0015340 | 1 | Allopurinol-Induced Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis |
| drug-induced hearing loss | MONDO:0850094 | 1 | Noise Induced Hearing Loss |
| drug-induced myopathy | MONDO:0100637 | 1 | Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28 |
| Dubowitz syndrome | MONDO:0009124 | 1 | Fanconi_Anemia |
| Dursun syndrome | MONDO:0023124 | 1 | G6PC3 Deficiency |
| dysplasia epiphysealis hemimelica | MONDO:0007489 | 1 | Hereditary Multiple Osteochondromas |
| dyssegmental dysplasia, Rolland-Desbuquois type | MONDO:0009139 | 1 | Dyssegmental Dysplasia |
| 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, classic type, 1 | MONDO:0019567 | 1 | Ehlers-Danlos Syndrome, COL5A1-related |
| encephalopathy, progressive, early-onset, with episodic rhabdomyolysis | MONDO:0032681 | 1 | Neurodevelopmental Disorder with Epilepsy, Spasticity, and Brain Atrophy |
| endometrial hyperplasia without atypia | MONDO:0006193 | 1 | Endometrial Carcinoma |
| endometrial polyp | MONDO:0006195 | 1 | Endometrial Carcinoma |
| ENPP1-related autosomal recessive hypophosphatemic rickets | MONDO:0013219 | 1 | Autosomal Recessive Hypophosphatemic Rickets 1 |
| eosinophilic gastroenteritis | MONDO:0016129 | 1 | Cronkhite-Canada syndrome |
| epidermolysis bullosa | MONDO:0006541 | 1 | Epidermolysis Bullosa |
| epidermolysis bullosa simplex 6, generalized, with scarring and hair loss | MONDO:0015006 | 1 | KLHL24-Related Hypertrophic Cardiomyopathy |
| epilepsy, familial adult myoclonic, 5 | MONDO:0014167 | 1 | Pentanucleotide Repeat Familial Adult Myoclonus Epilepsy |
| episodic ataxia type 1 | MONDO:0008047 | 1 | Paroxysmal Dyskinesia |
| epithelioid hemangioma | MONDO:0021169 | 1 | Epithelioid Hemangioendothelioma |
| 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 |
| exfoliation syndrome | MONDO:0008327 | 1 | Exfoliation Syndrome |
| exostoses, multiple, type 2 | MONDO:0007586 | 1 | Seizures-scoliosis-macrocephaly syndrome |
| facioscapulohumeral muscular dystrophy 1 | MONDO:0008030 | 1 | Becker Muscular Dystrophy |
| Familial cold autoinflammatory syndrome 1 | MONDO:0007349 | 1 | CINCA Syndrome |
| familial dilated cardiomyopathy | MONDO:0016333 | 1 | Cardiomyopathy Dilated 100 |
| familial hyperaldosteronism type II | MONDO:0011576 | 1 | CLCN2-Related Leukoencephalopathy |
| familial hypobetalipoproteinemia 1 | MONDO:0014252 | 1 | Abetalipoproteinemia |
| familial isolated arrhythmogenic right ventricular dysplasia | MONDO:0016342 | 1 | arrhythmogenic right ventricular cardiomyopathy |
| familial isolated dilated cardiomyopathy | MONDO:0700335 | 1 | Dilated Cardiomyopathy 2B |
| familial isolated pituitary adenoma | MONDO:0017824 | 1 | AIP-related pituitary adenoma predisposition |
| familial melanoma | MONDO:0018961 | 1 | POT1 Tumor Predisposition Syndrome |
| familial papillary or follicular thyroid carcinoma | MONDO:0017895 | 1 | Familial Nonmedullary Thyroid Carcinoma |
| fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement | MONDO:0010912 | 1 | TUBB3-related Tubulinopathy |
| focal segmental glomerulosclerosis 3, susceptibility to | MONDO:0011917 | 1 | Focal Segmental Glomerulosclerosis |
| focal segmental glomerulosclerosis 4, susceptibility to | MONDO:0012931 | 1 | Focal Segmental Glomerulosclerosis |
| Friedreich ataxia 1 | MONDO:0100340 | 1 | Friedreich Ataxia |
| 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 |
| geroderma osteodysplastica | MONDO:0009271 | 1 | Larsen-like Syndrome B3GAT3 Type |
| giant axonal neuropathy | MONDO:0000128 | 1 | Giant Axonal Neuropathy 1 |
| glomuvenous malformation | MONDO:0007672 | 1 | Glomus Tumor |
| glycine encephalopathy 1 | MONDO:0958179 | 1 | Nonketotic Hyperglycinemia |
| glycine encephalopathy 2 | MONDO:0958192 | 1 | Nonketotic Hyperglycinemia |
| glycosylphosphatidylinositol biosynthesis defect 16 | MONDO:0040500 | 1 | Autosomal Recessive Non-Syndromic Intellectual Disability |
| granuloma annulare | MONDO:0006554 | 1 | Porokeratosis |
| 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 |
| hallucinogen-persisting perception disorder | MONDO:0100125 | 1 | Visual Snow Syndrome |
| hearing loss, X-linked 4 | MONDO:0010238 | 1 | Distal Myopathy 7, Adult-Onset, X-Linked |
| heavy chain deposition disease | MONDO:0019728 | 1 | Heavy Chain Disease |
| hemangioma of choroid | MONDO:0021542 | 1 | Ocular Melanoma |
| hemolytic disease of fetus and newborn, RH-induced | MONDO:0859172 | 1 | Hemolytic Disease of the Fetus and Newborn |
| hepatic veno-occlusive disease | MONDO:0019514 | 1 | Hepatic veno-occlusive disease-immunodeficiency syndrome |
| HERC2-related Angelman-like neurodevelopmental disorder | MONDO:0014224 | 1 | Angelman Syndrome |
| hereditary hypophosphatemic rickets with hypercalciuria | MONDO:0009431 | 1 | X-Linked Hypophosphatemia |
| hereditary motor and sensory neuropathy type 6 | MONDO:0019551 | 1 | Neuropathy Hereditary Motor And Sensory Type VIc With Optic Atrophy |
| hereditary mucoepithelial dysplasia | MONDO:0008017 | 1 | IFAP Syndrome 2 |
| hereditary spastic paraplegia 13 | MONDO:0011532 | 1 | Hypomyelinating Leukodystrophy 4 |
| hereditary spastic paraplegia 17 | MONDO:0010043 | 1 | Distal Hereditary Motor Neuronopathy, Autosomal Dominant |
| hereditary spastic paraplegia 30 | MONDO:0012476 | 1 | KIF1A-Related Neurological Disorder |
| hereditary Wilms tumor | MONDO:0003321 | 1 | Wilms Tumor |
| 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 |
| hyper-IgM syndrome | MONDO:0003947 | 1 | Autosomal Agammaglobulinemia |
| hyper-IgM syndrome type 3 | MONDO:0011735 | 1 | Hyper-IgM Syndrome Type 2 |
| hypercalcemic type ovarian small cell carcinoma | MONDO:0004319 | 1 | Malignant Germ Cell Tumor of Ovary |
| 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 |
| hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome | MONDO:0013458 | 1 | SARS1-Related Neurodevelopmental Disorder |
| hypogonadotropic hypogonadism | MONDO:0018555 | 1 | 46,XX Gonadal Dysgenesis |
| hypogonadotropic hypogonadism 3 with or without anosmia | MONDO:0009482 | 1 | Kallmann Syndrome |
| hypogonadotropic hypogonadism 4 with or without anosmia | MONDO:0012528 | 1 | Kallmann Syndrome |
| hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism | MONDO:0007093 | 1 | Taurodontism |
| hypomyelinating leukodystrophy 3 | MONDO:0009843 | 1 | SARS1-Related Neurodevelopmental Disorder |
| hypoparathyroidism | MONDO:0001220 | 1 | Paroxysmal Dyskinesia |
| hypophosphatemia | MONDO:0000313 | 1 | Refeeding Syndrome |
| hypophosphatemic rickets | MONDO:0024300 | 1 | Vitamin D-Dependent Rickets Type 3 |
| hypopituitarism | MONDO:0005152 | 1 | Hyperinsulinemic Hypoglycemia |
| hypoplastic left heart syndrome 2 | MONDO:0013752 | 1 | Hypoplastic Left Heart Syndrome |
| hypotonia, infantile, with psychomotor retardation and characteristic facies | MONDO:0014176 | 1 | Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 3 |
| hypotrichosis 5 | MONDO:0013017 | 1 | Hypotrichosis 4 |
| hypotrichosis 6 | MONDO:0011932 | 1 | Monilethrix |
| ichthyosis vulgaris | MONDO:0024304 | 1 | Ichthyosis Vulgaris |
| idiopathic inflammatory myopathy | MONDO:0600023 | 1 | Nemaline Myopathy |
| idiopathic intracranial hypertension | MONDO:0006810 | 1 | Visual Snow Syndrome |
| IFAP syndrome | MONDO:0100212 | 1 | Keratosis follicularis spinulosa decalvans |
| Imerslund-Grasbeck syndrome type 2 | MONDO:0100157 | 1 | Imerslund-Grasbeck Syndrome Type 1 |
| Imerslund-Gräsbeck syndrome | MONDO:0009853 | 1 | Hereditary intrinsic factor deficiency |
| immune thrombocytopenia | MONDO:0002048 | 1 | Platelet-Type von Willebrand Disease |
| immunodeficiency 132b | MONDO:0976228 | 1 | TRAF3 Haploinsufficiency |
| immunodeficiency 23 | MONDO:0014353 | 1 | Rhizomelic Dysplasia, Ain-Naz Type |
| impetigo | MONDO:0004592 | 1 | Chickenpox |
| inborn glycerol kinase deficiency | MONDO:0010613 | 1 | Isolated Glycerol Kinase Deficiency |
| Infantile free sialic acid storage disease | MONDO:0010027 | 1 | Salla Disease |
| infectious meningitis | MONDO:0021108 | 1 | Tetanus |
| infective arthritis | MONDO:0042485 | 1 | Lyme Disease |
| inflammatory bowel disease 25 | MONDO:0012941 | 1 | Interleukin-10 Receptor Deficiency |
| inflammatory linear verrucous epidermal nevus | MONDO:0019318 | 1 | CHILD Syndrome |
| iniencephaly | MONDO:0018968 | 1 | Anencephaly |
| intellectual developmental disorder, autosomal dominant 63, with macrocephaly | MONDO:0032939 | 1 | TRIO-Related Neurodevelopmental Disorder |
| intellectual developmental disorder, autosomal recessive 74 | MONDO:0014951 | 1 | Autosomal Recessive Non-Syndromic Intellectual Disability |
| intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly | MONDO:0030785 | 1 | Autosomal Recessive Non-Syndromic Intellectual Disability |
| intellectual developmental disorder, autosomal recessive 77 | MONDO:0031031 | 1 | Autosomal Recessive Non-Syndromic Intellectual Disability |
| intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly | MONDO:0957999 | 1 | Autosomal Recessive Non-Syndromic Intellectual Disability |
| intellectual developmental disorder, autosomal recessive 81 | MONDO:0958204 | 1 | Autosomal Recessive Non-Syndromic Intellectual Disability |
| intellectual disability, autosomal recessive 13 | MONDO:0013173 | 1 | Neurodevelopmental Disorder with Epilepsy, Spasticity, and Brain Atrophy |
| intellectual disability, autosomal recessive 46 | MONDO:0014499 | 1 | Seizures-scoliosis-macrocephaly 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 |
| interstitial lung disease due to ABCA3 deficiency | MONDO:0012582 | 1 | Hereditary Pulmonary Alveolar Proteinosis |
| intestinal tuberculosis | MONDO:0001678 | 1 | Whipple Disease |
| INTU-related skeletal ciliopathy | MONDO:1060154 | 1 | Orofaciodigital Syndrome 17 |
| invasive hydatidiform mole | MONDO:0020549 | 1 | Choriocarcinoma |
| 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 cryptophthalmia | MONDO:0007410 | 1 | Fraser Syndrome |
| isolated encephalocele | MONDO:0016057 | 1 | Anencephaly |
| isolated tracheo-esophageal fistula | MONDO:0018694 | 1 | Laryngotracheoesophageal Cleft |
| isosporiasis | MONDO:0018769 | 1 | Cyclosporiasis |
| Joubert syndrome 17 | MONDO:0013824 | 1 | Acrocallosal Syndrome |
| Juberg-Hayward syndrome | MONDO:0008992 | 1 | Roberts Syndrome |
| jugulotympanic paraganglioma | MONDO:0021064 | 1 | Glomus Tumor |
| KAT6B-related disorders | MONDO:0036042 | 1 | Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, and Brain Abnormalities |
| Kaufman oculocerebrofacial syndrome | MONDO:0009485 | 1 | Neurodevelopmental Disorder With Absent Speech and Movement and Behavioral Abnormalities |
| KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome | MONDO:0858999 | 1 | Diets-Jongmans Syndrome |
| kidney oncocytoma | MONDO:0003825 | 1 | Chromophobe Renal Cell Carcinoma |
| King-Denborough syndrome | MONDO:0020485 | 1 | Bailey-Bloch Congenital Myopathy |
| kyphomelic dysplasia | MONDO:0008881 | 1 | CCN2-Related Kyphomelic Dysplasia |
| LAMA2-related muscular dystrophy | MONDO:0100228 | 1 | Congenital Merosin-deficient Muscular Dystrophy 1A |
| Langer-Giedion syndrome | MONDO:0007874 | 1 | Hereditary Multiple Osteochondromas |
| late-onset Parkinson disease | MONDO:0008199 | 1 | Parkinson's Disease |
| Lateral medullary syndrome | MONDO:0006827 | 1 | Achoo Syndrome |
| laurin-Sandrow syndrome | MONDO:0007615 | 1 | ZRS-Related Limb Malformation |
| Leber congenital amaurosis 2 | MONDO:0008765 | 1 | RPE65-Related Retinopathy |
| Leber congenital amaurosis 5 | MONDO:0011473 | 1 | LCA5-Related Retinopathy |
| leiomyoma | MONDO:0001572 | 1 | Endometrial Carcinoma |
| leukodystrophy | MONDO:0019046 | 1 | Sterol Carrier Protein 2 Deficiency |
| leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome | MONDO:0012622 | 1 | CLCN2-Related Leukoencephalopathy |
| leukoencephalopathy with vanishing white matter 1 | MONDO:0020507 | 1 | Leukoencephalopathy With Vanishing White Matter |
| leukoencephalopathy with vanishing white matter 2 | MONDO:0957870 | 1 | Leukoencephalopathy With Vanishing White Matter |
| leukoencephalopathy with vanishing white matter 3 | MONDO:0957871 | 1 | Leukoencephalopathy With Vanishing White Matter |
| leukoencephalopathy with vanishing white matter 4 | MONDO:0957872 | 1 | Leukoencephalopathy With Vanishing White Matter |
| leukoencephalopathy with vanishing white matter 5 | MONDO:0957873 | 1 | Leukoencephalopathy With Vanishing White Matter |
| lichen planus | MONDO:0006572 | 1 | Porokeratosis |
| LIG4 syndrome | MONDO:0011686 | 1 | Nijmegen breakage syndrome |
| limb body wall complex | MONDO:0016528 | 1 | Amniotic Band Syndrome |
| Loeys-Dietz syndrome 1 | MONDO:0012212 | 1 | Loeys-Dietz Syndrome |
| Loeys-Dietz syndrome 2 | MONDO:0012427 | 1 | Loeys-Dietz 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 |
| lymphoblastic lymphoma | MONDO:0000873 | 1 | Alveolar Rhabdomyosarcoma |
| lymphocytic colitis | MONDO:0000704 | 1 | Clostridioides difficile Infection |
| lymphocytic hypereosinophilic syndrome | MONDO:0017835 | 1 | Idiopathic Hypereosinophilic Syndrome |
| lysosomal acid lipase deficiency | MONDO:0800449 | 1 | Autosomal Recessive Hypercholesterolemia |
| lysosomal storage disease | MONDO:0002561 | 1 | Bohring-Opitz syndrome |
| macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome | MONDO:0014716 | 1 | Houge-Janssens Syndrome |
| Maffucci syndrome | MONDO:0013808 | 1 | Hereditary Multiple Osteochondromas |
| mandibuloacral dysplasia | MONDO:0016584 | 1 | Nestor-Guillermo progeria syndrome |
| Manitoba oculotrichoanal syndrome | MONDO:0009560 | 1 | Fraser Syndrome |
| Marie Unna hereditary hypotrichosis | MONDO:0018631 | 1 | Hypotrichosis 4 |
| maternally-inherited diabetes and deafness | MONDO:0010785 | 1 | MELAS Syndrome |
| mature ovarian teratoma | MONDO:0003820 | 1 | Malignant Germ Cell Tumor of Ovary |
| mediastinal germ cell tumor | MONDO:0021067 | 1 | Thymoma |
| mediastinal malignant lymphoma | MONDO:0004021 | 1 | Thymoma |
| megalencephalic leukoencephalopathy with subcortical cysts | MONDO:0011391 | 1 | CLCN2-Related Leukoencephalopathy |
| megaloblastic anemia | MONDO:0001700 | 1 | Acute Erythroid Leukemia |
| Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency | MONDO:0020530 | 1 | Autosomal Dominant Mendelian Susceptibility To Mycobacterial Diseases Due To Partial IFNgammaR1 Deficiency |
| meningeal tuberculosis | MONDO:0006042 | 1 | Bacterial meningitis |
| metabolic myopathy | MONDO:0020123 | 1 | Nemaline Myopathy |
| metabolic syndrome | MONDO:0000816 | 1 | Sheehan Syndrome |
| metachondromatosis | MONDO:0007979 | 1 | Hereditary Multiple Osteochondromas |
| metachromatic leukodystrophy due to saposin B deficiency | MONDO:0009590 | 1 | Metachromatic Leukodystrophy |
| 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 |
| metastatic prostate carcinoma | MONDO:0004956 | 1 | Prostate Adenocarcinoma |
| methemoglobinemia | MONDO:0001117 | 1 | Cyanide Poisoning |
| microcephaly, epilepsy, and diabetes syndrome 1 | MONDO:0031481 | 1 | Microcephaly, Short Stature, and Impaired Glucose Metabolism 1 |
| microcephaly, short stature, and impaired glucose metabolism | MONDO:0800450 | 1 | Microcephaly, Short Stature, and Impaired Glucose Metabolism 1 |
| micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome | MONDO:0014892 | 1 | TRIO-Related Neurodevelopmental Disorder |
| microphthalmia, isolated, with coloboma 5 | MONDO:0012709 | 1 | SHH Holoprosencephaly Spectrum |
| 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 |
| mirror movements 1 and/or agenesis of the corpus callosum | MONDO:0100515 | 1 | CDH2-Related ACOG Syndrome |
| mitochondrial dna depletion syndrome 14A (encephalomyopathic type) | MONDO:0980967 | 1 | Mitochondrial DNA Depletion Syndrome 14B (Cardioencephalomyopathic Type) |
| mitochondrial DNA depletion syndrome 9 | MONDO:0009504 | 1 | SUCLA2-Related Mitochondrial DNA Depletion Syndrome |
| MKKS-related ciliopathy | MONDO:1040050 | 1 | McKusick-Kaufman syndrome |
| MNGIE (TYMP-related, MTDPS1) | MONDO:0011283 | 1 | DTYMK-Related Neurodegeneration |
| Moebius syndrome | MONDO:0008006 | 1 | Bailey-Bloch Congenital Myopathy |
| monoclonal gammopathy of uncertain significance | MONDO:0004225 | 1 | Heavy Chain Disease |
| monosomy X | MONDO:0020466 | 1 | Turner Syndrome |
| mosaic monosomy X | MONDO:0020467 | 1 | Turner Syndrome |
| multicentric Castleman disease | MONDO:0019754 | 1 | HHV-8-Associated Multicentric Castleman Disease |
| multifocal atrial tachycardia | MONDO:0017988 | 1 | Atrial Fibrillation |
| multinodular goiter | MONDO:0000334 | 1 | Familial Nonmedullary Thyroid Carcinoma |
| Multiple mitochondrial dysfunctions syndrome 3 (IBA57) | MONDO:0014132 | 1 | Multiple Mitochondrial Dysfunctions Syndrome 5 |
| multiple symmetric lipomatosis | MONDO:0007908 | 1 | Proteus syndrome |
| multiple synostoses syndrome 1 | MONDO:0008519 | 1 | Multiple Synostoses Syndrome |
| multiple synostoses syndrome 2 | MONDO:0012394 | 1 | Multiple Synostoses Syndrome |
| multiple synostoses syndrome 3 | MONDO:0013064 | 1 | Multiple Synostoses Syndrome |
| multiple synostoses syndrome 4 | MONDO:0054752 | 1 | Multiple Synostoses Syndrome |
| multiple system atrophy, cerebellar type | MONDO:0016418 | 1 | Spinocerebellar Ataxia 48 |
| MYH9-related disease | MONDO:0015912 | 1 | Autosomal Dominant Nonsyndromic Hearing Loss 17 |
| myofibrillar myopathy 2 | MONDO:0012130 | 1 | Dilated Cardiomyopathy 1II |
| myoglobinuria, recurrent | MONDO:0010791 | 1 | LPIN1-Related Recurrent Myoglobinuria |
| 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 |
| narcolepsy without cataplexy | MONDO:0019371 | 1 | Long COVID |
| nephrolithiasis susceptibility caused by SLC26A1 | MONDO:0020722 | 1 | SLC26A1-Related Oxalate Transporter Deficiency |
| nephropathic cystinosis | MONDO:0100151 | 1 | Isolated Sedoheptulokinase 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 |
| neurodegeneration with brain iron accumulation 4 | MONDO:0013674 | 1 | Behr Syndrome |
| neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline | MONDO:0957985 | 1 | CAPRIN1 Related Neurodevelopmental Disorder |
| neurodevelopmental disorder with involuntary movements | MONDO:0060491 | 1 | GNAO1-Related Developmental and Epileptic Encephalopathy |
| neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy | MONDO:0060640 | 1 | Neurodevelopmental Disorder with Epilepsy, Spasticity, and Brain Atrophy |
| neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities | MONDO:0030837 | 1 | Neurodevelopmental Disorder with Microcephaly, Impaired Language, and Gait Abnormalities |
| 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 |
| neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures | MONDO:0060578 | 1 | SARS1-Related Neurodevelopmental Disorder |
| neuroleptic malignant syndrome | MONDO:0019790 | 1 | Serotonin Syndrome |
| neuronal ceroid lipofuscinosis 5 | MONDO:0009745 | 1 | Neuronal Ceroid Lipofuscinosis |
| neuronopathy, distal hereditary motor, autosomal dominant 15 | MONDO:0976226 | 1 | Distal Hereditary Motor Neuronopathy, Autosomal Dominant |
| neutropenia | MONDO:0001475 | 1 | Chemotherapy-Induced Neutropenia |
| new-onset refractory status epilepticus | MONDO:0018199 | 1 | Febrile Infection-Related Epilepsy Syndrome |
| Niemann-Pick disease type C | MONDO:0009757 | 1 | Salla Disease |
| nodular lymphocyte predominant Hodgkin lymphoma | MONDO:0044778 | 1 | Classic Hodgkin Lymphoma |
| non-gestational ovarian choriocarcinoma | MONDO:0004322 | 1 | Choriocarcinoma |
| non-Hodgkin lymphoma | MONDO:0018908 | 1 | Kikuchi-Fujimoto Disease |
| non-severe combined immunodeficiency due to COPG1 deficiency | MONDO:0800136 | 1 | Immunodeficiency 128 |
| 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 |
| OFD1-related ciliopathy | MONDO:1040039 | 1 | Orofaciodigital Syndrome |
| olfactory neuroblastoma | MONDO:0006329 | 1 | Sinonasal Undifferentiated Carcinoma |
| oligodendroglioma | MONDO:0016695 | 1 | IDH-Mutant and 1p/19q-Codeleted Oligodendroglioma |
| Ollier disease | MONDO:0008145 | 1 | Hereditary Multiple Osteochondromas |
| Oncogenic osteomalacia | MONDO:0018124 | 1 | X-Linked Hypophosphatemia |
| optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy | MONDO:0007429 | 1 | Autosomal Dominant Optic Atrophy Plus |
| orofacial cleft | MONDO:0000358 | 1 | Siderius Type X-Linked Intellectual Disability |
| orofaciodigital syndrome type 6 | MONDO:0010176 | 1 | Short-rib thoracic dysplasia 21 without polydactyly |
| Oromandibular-limb hypogenesis syndrome | MONDO:0017139 | 1 | Agnathia-Otocephaly Complex |
| osteofibrous dysplasia | MONDO:0011806 | 1 | Adamantinoma |
| osteopathia striata with cranial sclerosis | MONDO:0010310 | 1 | Craniometadiaphyseal Osteosclerosis with Hip Dysplasia |
| otosclerosis 11 | MONDO:0957928 | 1 | Otosclerosis |
| otosclerosis 12 | MONDO:0968980 | 1 | Otosclerosis |
| otospondylomegaepiphyseal dysplasia, autosomal recessive | MONDO:0044206 | 1 | Marshall Syndrome |
| OTUD5-related multiple congenital anomalies-neurodevelopmental syndrome (MCAND) | MONDO:0025351 | 1 | OTUD6B-Related Neurodevelopmental Disorder |
| ovarian clear cell adenocarcinoma | MONDO:0006045 | 1 | Clear Cell Ovarian Carcinoma |
| ovarian lymphoma | MONDO:0002227 | 1 | Malignant Germ Cell Tumor of Ovary |
| 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 |
| paroxysmal nocturnal hemoglobinuria 1 | MONDO:0010438 | 1 | Paroxysmal Nocturnal Hemoglobinuria |
| paroxysmal nocturnal hemoglobinuria 2 | MONDO:0014166 | 1 | Paroxysmal Nocturnal Hemoglobinuria |
| 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 |
| pheochromocytoma | MONDO:0008233 | 1 | Adrenal Cortex Adenoma |
| PI4KA-related disorder | MONDO:1040012 | 1 | Perisylvian Polymicrogyria with Cerebellar Hypoplasia and Arthrogryposis |
| 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 |
| poisoning | MONDO:0029000 | 1 | Chlorophacinone Poisoning |
| poliomyelitis | MONDO:0017373 | 1 | Acute Flaccid Myelitis |
| polyarteritis nodosa | MONDO:0019170 | 1 | Cogan Syndrome |
| polydactyly of a triphalangeal thumb | MONDO:0008270 | 1 | ZRS-Related Limb Malformation |
| polyglucosan body myopathy 1 with or without immunodeficiency | MONDO:0014389 | 1 | KLHL24-Related Hypertrophic Cardiomyopathy |
| poorly differentiated thyroid gland carcinoma | MONDO:0006382 | 1 | Anaplastic Thyroid Carcinoma |
| portal hypertension, noncirrhotic, 1 | MONDO:8000013 | 1 | Mitochondrial DNA Depletion Syndrome 3 (Hepatocerebral Type) |
| postaxial acrofacial dysostosis | MONDO:0009903 | 1 | Treacher Collins Syndrome |
| potassium-aggravated myotonia | MONDO:0018959 | 1 | Thomsen and Becker disease |
| Potocki-Shaffer syndrome | MONDO:0011022 | 1 | KDM1A-Related Neurodevelopmental Disorder |
| predisposition to invasive fungal disease due to CARD9 deficiency | MONDO:0008905 | 1 | Chronic Mucocutaneous Candidiasis |
| presbycusis | MONDO:0043765 | 1 | Noise Induced Hearing Loss |
| Presynaptic congenital myasthenic syndrome | MONDO:0700466 | 1 | Congenital Myasthenic Syndrome 18 |
| primary ciliary dyskinesia 54 | MONDO:0100607 | 1 | Spermatogenic failure 98 |
| primary hypereosinophilic syndrome | MONDO:0017833 | 1 | Idiopathic Hypereosinophilic Syndrome |
| primary microcephaly-mild intellectual disability-young-onset diabetes syndrome | MONDO:0018320 | 1 | Microcephaly, Short Stature, and Impaired Glucose Metabolism 1 |
| primary polydipsia | MONDO:0040870 | 1 | Diabetes mellitus |
| progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 | MONDO:0012241 | 1 | Perrault Syndrome |
| protoporphyria, erythropoietic, 2 | MONDO:0060729 | 1 | Erythropoietic Protoporphyria |
| PSAT deficiency | MONDO:0012596 | 1 | 3-Phosphoglycerate Dehydrogenase Deficiency |
| pseudo-TORCH syndrome | MONDO:0009626 | 1 | DENND5A-Related Developmental and Epileptic Encephalopathy |
| pseudoachondroplasia | MONDO:0008322 | 1 | Achondroplasia |
| pseudohypoaldosteronism type 2E | MONDO:0013782 | 1 | Neurodevelopmental Disorder With or Without Autism or Seizures |
| pseudohypoparathyroidism type 1A | MONDO:0007078 | 1 | Acrodysostosis |
| pseudomyogenic hemangioendothelioma | MONDO:0975754 | 1 | Epithelioid Hemangioendothelioma |
| PSPH deficiency | MONDO:0013531 | 1 | 3-Phosphoglycerate Dehydrogenase Deficiency |
| psychotic disorder | MONDO:0005485 | 1 | Dissociative Identity Disorder |
| pulmonary hypertension due to lung disease and/or hypoxia | MONDO:0017157 | 1 | Idiopathic Pulmonary Arterial Hypertension |
| pulmonary hypertension, primary, 2 | MONDO:0014134 | 1 | Heritable Pulmonary Arterial Hypertension |
| pulmonary hypertension, primary, 3 | MONDO:0014135 | 1 | Heritable Pulmonary Arterial Hypertension |
| pulmonary hypertension, primary, 5 | MONDO:0009935 | 1 | Heritable Pulmonary Arterial Hypertension |
| pulmonary hypertension, primary, 7 | MONDO:0979237 | 1 | Heritable Pulmonary Arterial Hypertension |
| purulent endophthalmitis | MONDO:0004863 | 1 | Endophthalmitis |
| Pyle disease | MONDO:0009943 | 1 | Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly |
| pyridoxine-dependent epilepsy | MONDO:0009945 | 1 | Early-Infantile Developmental and Epileptic Encephalopathy |
| qualitative or quantitative defects of desmin | MONDO:0016187 | 1 | KLHL24-Related Hypertrophic Cardiomyopathy |
| rapid-onset dystonia-parkinsonism | MONDO:0007496 | 1 | CAPOS Syndrome |
| RASopathy | MONDO:0021060 | 1 | Bohring-Opitz syndrome |
| refractory celiac disease | MONDO:0018353 | 1 | Collagenous Sprue |
| renal pelvis/ureter urothelial carcinoma | MONDO:0020654 | 1 | Lynch Syndrome |
| retinitis pigmentosa 11 | MONDO:0010828 | 1 | PRPF31-Related Retinopathy |
| retinitis pigmentosa 23 | MONDO:0010320 | 1 | Orofaciodigital Syndrome Type I |
| retinitis pigmentosa 26 | MONDO:0012024 | 1 | CERKL-Related Retinopathy |
| retinitis pigmentosa 64 | MONDO:0800359 | 1 | CFAP418-related retinal ciliopathy |
| Rh isoimmunization | MONDO:0006953 | 1 | Hemolytic Disease of the Fetus and Newborn |
| rheumatic fever | MONDO:0017767 | 1 | Wissler syndrome |
| rhizomelic chondrodysplasia punctata type 4 | MONDO:0014510 | 1 | Spastic Paraparesis-Cataracts-Speech Delay Syndrome |
| rickettsioses | MONDO:0006956 | 1 | Leptospirosis |
| sarcomatoid renal cell carcinoma | MONDO:0003012 | 1 | Anaplastic Thyroid Carcinoma |
| SATB2-associated syndrome | MONDO:0100147 | 1 | Chopra-Amiel-Gordon Syndrome |
| Schwartz-Jampel syndrome type 1 | MONDO:0100435 | 1 | Schwartz-Jampel Syndrome |
| sebaceous adenoma | MONDO:0002375 | 1 | Lynch Syndrome |
| seborrheic keratosis | MONDO:0008420 | 1 | Porokeratosis |
| self-limited familial neonatal epilepsy | MONDO:0100023 | 1 | Early-Infantile Developmental and Epileptic Encephalopathy |
| severe early-onset pulmonary alveolar proteinosis due to MARS deficiency | MONDO:0014206 | 1 | Hereditary Pulmonary Alveolar Proteinosis |
| short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans | MONDO:0100462 | 1 | ACAN-Related Short Stature Spectrum |
| sialolithiasis | MONDO:0006970 | 1 | Ludwig's Angina |
| sick sinus syndrome 1 | MONDO:0024562 | 1 | Sick Sinus Syndrome 2, Autosomal Dominant |
| sick sinus syndrome 4 | MONDO:0859173 | 1 | Sick Sinus Syndrome 2, Autosomal Dominant |
| Silverman-Handmaker type dyssegmental dysplasia | MONDO:0009140 | 1 | Dyssegmental Dysplasia |
| simple renal cyst | MONDO:0004840 | 1 | Polycystic Kidney Disease |
| sitosterolemia 1 | MONDO:0020747 | 1 | Sitosterolemia |
| sitosterolemia 2 | MONDO:0020748 | 1 | Sitosterolemia |
| sleep-related hypermotor epilepsy | MONDO:0100631 | 1 | Paroxysmal Dyskinesia |
| soft tissue sarcoma | MONDO:0018078 | 1 | Anaplastic Thyroid Carcinoma |
| solitary median maxillary central incisor syndrome | MONDO:0007819 | 1 | SHH Holoprosencephaly Spectrum |
| 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 79A, autosomal dominant, with ataxia | MONDO:0859363 | 1 | UCHL1-Related Neurodegeneration with Optic Atrophy and Spastic Paraplegia |
| spastic paraplegia 85, autosomal recessive | MONDO:0030512 | 1 | Autosomal Dominant Sensory Ataxia 1 |
| specific learning disability | MONDO:0016225 | 1 | Attention Deficit-Hyperactivity Disorder |
| specific phobia | MONDO:0012000 | 1 | Agoraphobia |
| spinal muscular atrophy with congenital bone fractures 2 | MONDO:0014807 | 1 | X-Linked Infantile Spinal Muscular Atrophy |
| 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 degeneration with slow eye movements | MONDO:0010065 | 1 | Spinocerebellar Ataxia Type 2 |
| splenic diffuse red pulp small B-cell lymphoma | MONDO:0017599 | 1 | Hairy Cell Leukemia |
| spondyloepiphyseal dysplasia, Kimberley type | MONDO:0012019 | 1 | ACAN-Related Short Stature Spectrum |
| spondylometaphyseal dysplasia, Sedaghatian type | MONDO:0009593 | 1 | Shwachman-Diamond syndrome |
| stereotypic movement disorder | MONDO:0002265 | 1 | Tourette Syndrome |
| stroke disorder | MONDO:0005098 | 1 | Bell's palsy |
| strongyloidiasis | MONDO:0005974 | 1 | Clostridioides difficile Infection |
| substance abuse | MONDO:0002491 | 1 | Antisocial Personality Disorder |
| sudden sensorineural hearing loss | MONDO:0043373 | 1 | Noise Induced Hearing Loss |
| surfactant metabolism dysfunction, pulmonary, 1 | MONDO:0009929 | 1 | Hereditary Pulmonary Alveolar Proteinosis |
| surfactant metabolism dysfunction, pulmonary, 2 | MONDO:0024465 | 1 | Hereditary Pulmonary Alveolar Proteinosis |
| sympathetic ophthalmia | MONDO:0019198 | 1 | Vogt-Koyanagi-Harada Disease |
| syndactyly type 4 | MONDO:0008515 | 1 | ZRS-Related Limb Malformation |
| syndromic complex neurodevelopmental disorder | MONDO:0800439 | 1 | Chopra-Amiel-Gordon Syndrome |
| 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 |
| syringomyelia | MONDO:0017987 | 1 | Monomelic Amyotrophy |
| systemic-onset juvenile idiopathic arthritis | MONDO:0019434 | 1 | Wissler syndrome |
| T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta | MONDO:0015703 | 1 | Immunodeficiency 18 |
| Teebi hypertelorism syndrome | MONDO:0030639 | 1 | Opitz G/BBB syndrome |
| Tetra-amelia syndrome | MONDO:0010110 | 1 | Agnathia-Otocephaly Complex |
| thalidomide embryopathy | MONDO:0018034 | 1 | Roberts Syndrome |
| thrombophilia due to protein S deficiency, autosomal recessive | MONDO:0013791 | 1 | Protein S Deficiency |
| thymic neuroendocrine tumor | MONDO:0019964 | 1 | Thymic Neuroendocrine Carcinoma |
| thyroid lymphoma | MONDO:0019962 | 1 | Anaplastic Thyroid Carcinoma |
| thyrotoxic periodic paralysis | MONDO:0019201 | 1 | Refeeding Syndrome |
| tibia, hypoplasia or aplasia of, with polydactyly | MONDO:0008572 | 1 | ZRS-Related Limb Malformation |
| tic disorder | MONDO:0002420 | 1 | Tourette Syndrome |
| tinea corporis | MONDO:0001461 | 1 | Contact Dermatitis |
| Townes-Brocks syndrome 2 | MONDO:0054582 | 1 | Townes-Brocks Syndrome 1 |
| toxic bronchiolitis obliterans | MONDO:0100127 | 1 | Deployment-Related Constrictive Bronchiolitis |
| 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 |
| triphalangeal thumb, Nonopposable | MONDO:0008605 | 1 | ZRS-Related Limb Malformation |
| triphalangeal thumb-polysyndactyly syndrome | MONDO:0017454 | 1 | ZRS-Related Limb Malformation |
| TSH-secreting pituitary adenoma | MONDO:0019611 | 1 | Generalized Resistance to Thyroid Hormone |
| TTC8-related ciliopathy | MONDO:1040049 | 1 | BBSome-related retinitis pigmentosa |
| TUBB4B-related ciliopathy | MONDO:1060115 | 1 | Leber Congenital Amaurosis with Early-Onset Deafness |
| tuberculosis, spinal | MONDO:0043836 | 1 | Kummell Disease |
| Turner syndrome due to structural X chromosome anomalies | MONDO:0020472 | 1 | Turner Syndrome |
| type I complement component 8 deficiency | MONDO:0013422 | 1 | Late Complement Component Deficiency |
| type II complement component 8 deficiency | MONDO:0013421 | 1 | Late Complement Component Deficiency |
| Usher syndrome type 3A | MONDO:0010170 | 1 | Usher Syndrome Type 3 |
| uterine corpus sarcoma | MONDO:0005210 | 1 | Endometrial Carcinoma |
| uterine leiomyosarcoma | MONDO:0016262 | 1 | Uterine Leiomyoma |
| van den Ende-Gupta syndrome | MONDO:0010959 | 1 | Congenital Heart Defects and Skeletal Malformations Syndrome |
| Van Maldergem syndrome 2 | MONDO:0014242 | 1 | Hennekam lymphangiectasia-lymphedema syndrome 2 |
| vas deferens, congenital unilateral aplasia of | MONDO:0800311 | 1 | Congenital Bilateral Absence of Vas Deferens |
| 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 K deficiency | MONDO:0001244 | 1 | Vitamin K-Dependent Coagulation Factor Deficiency |
| vitelliform macular dystrophy | MONDO:0000390 | 1 | Stargardt Disease |
| von Willebrand disease type 2B | MONDO:0015629 | 1 | Platelet-Type von Willebrand Disease |
| White-Kernohan syndrome | MONDO:0859169 | 1 | Chung-Jansen Syndrome |
| WNT4-related Müllerian aplasia with hyperandrogenism | MONDO:0008019 | 1 | Mayer-Rokitansky-Kuster-Hauser_Syndrome |
| Wolff-Parkinson-White syndrome | MONDO:0008685 | 1 | Ebstein Anomaly |
| X-linked distal spinal muscular atrophy type 3 | MONDO:0010338 | 1 | X-Linked Infantile Spinal Muscular Atrophy |
| X-linked hearing loss 1 | MONDO:0010577 | 1 | Arts syndrome |
| X-linked hereditary sensory and autonomic neuropathy with hearing loss | MONDO:0010378 | 1 | X-linked Nonsyndromic Hearing Loss |
| X-linked hypophosphatemic rickets | MONDO:0020720 | 1 | Cadmium Poisoning |
| X-linked ichthyosis | MONDO:0010622 | 1 | Ichthyosis Vulgaris |
| X-linked intellectual disability-hypotonia-movement disorder syndrome | MONDO:0018709 | 1 | Intellectual Disability X-linked 102 |
| X-linked mixed hearing loss with perilymphatic gusher | MONDO:0010576 | 1 | Choroideremia-Deafness-Obesity Syndrome |
| X-linked myotubular myopathy | MONDO:0010683 | 1 | Bailey-Bloch Congenital Myopathy |
| 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 |
| Zimmermann-Laband syndrome 3 | MONDO:0032854 | 1 | Zimmermann-Laband Syndrome |