Orphanet Rare Disease Ontology

Last uploaded: December 4, 2024
Id http://www.orpha.net/ORDO/Orphanet_2691
http://www.orpha.net/ORDO/Orphanet_2691
Preferred Name

Nevo syndrome

Synonyms
Cerebral gigantism, Nevo type
Type http://www.w3.org/2002/07/owl#Class
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A formal representation of the knowledge within the domain of Isotopes for Food Science 1
Adherence and Integrated Care 1
Adverse Childhood Experiences Ontology 2
Adverse Event Reporting Ontology 1
AGRonomy Ontology 1
Alzheimer Disease Map Ontology 3
Alzheimer's Disease Ontology 15
Amphibian Taxonomy Ontology 1
An Ontology for Indian Biodiversity Knowledge Management 2
An ontology of core ecological entities 2
Anatomic Pathology Lexicon 12
Anatomical Therapeutic Chemical Classification 11
Animal Health Ontology for Livestock 3
Anthology of Biosurveillance Diseases 12
APA Neuro Cluster 16
Apollo Structured Vocabulary 2
Archana Patel 1
Arctic Data Center Academic Disciplines Ontology 1
Artificial Intelligence Rheumatology Consultant System Ontology 28
Ascomycete Phenotype Ontology 1
Assessment of Indian Economy During Covid-19 27
Atherosclerotic Cerebrovascular Disease Ontology 54
Autism DSM-ADI-R ontology 3
Autism Spectrum Disorder Phenotype Ontology 10
Bacterial interlocked Process ONtology 12
Beta Cell Genomics Ontology 14
BIBFRAME 2.0 1
Bilingual Ontology of Alzheimer's Disease and Related Diseases 62
BioAssay Ontology 685
Biodiversity Ontology 2
Biolink Model 2
Biological and Environmental Research Ontology 2,075
Biological Collections Ontology 1
Biological Observation Matrix Ontology 1
Biological Pathway Taxonomy 82
BioMedBridges Diabetes Ontology 6
Biomedical Informatics Research Network Project Lexicon 52
Biomedical Resource Ontology 1
BioMedical Study Lifecycle Management 1
Biomedical Topics 1
BioModels Ontology 42
BioPAX Ontology of Biological Pathways 1
BioTop Ontology 1
BirthOnto: Birth Data Analysis 4
Bleeding History Phenotype Ontology 3
Bone Dysplasia Ontology 312
Brain Tumour Ontology 1
Breast Cancer Grading Ontology 1
Breast Tissue Cell Lines Ontology 1
BRENDA Tissue and Enzyme Source Ontology 1
Brucellosis Ontology 58
Cancer Care: Treatment Outcome Ontology 13
Cancer Chemoprevention Ontology 1
Cancer Research and Management ACGT Master Ontology 8
Cardiac Electrophysiology Ontology 27
Cardiovascular Disease Ontology 28
Caroli's Disease and Syndrome Ontology 5
Case-base ontology for gastric dystemperament in Persian medicine 1
Cell Culture Ontology 11,328
Cell Cycle Ontology 486
Cell Line Ontology 219
Cell Line Ontology [by Mahadevan] 58
Cell Ontology 26
Cerebrotendinous Xanthomatosis Ontology 3
CHEBI Integrated Role Ontology 61
Chemical Entities of Biological Interest Ontology 12
Chemical Information Ontology 1
Children's Health Exposure Analysis Resource 12
Chromatin Regulator Ontology 1
Chronic Disease Patient Education Ontology 1
Chronic Kidney Disease Ontology 9
Cigarette Smoke Exposure Ontology 799
Clinical Signs and Symptoms Ontology 1
Clinical Trials Ontology 1
Clinical Trials Ontology - Neurodegenerative Diseases 5
Clusters of Orthologous Groups (COG) Analysis Ontology 1
Coding Symbols for a Thesaurus of Adverse Reaction Terms 27
CODO: an Ontology for collection and analysis of COviD-19 data 2
Cognitive Paradigm Ontology 1
Collembola Anatomy Ontology 1
Combined Ontology for Inflammatory Diseases 37
Combined Phenotype Ontology 540
Common Anatomy Reference Ontology 1
Common Diabetes Medications Ontology 3
Common Terminology Criteria for Adverse Events 17
Compositional Dietary Nutrition Ontology 1
Computational Neuroscience Ontology 1
Computer Retrieval of Information on Scientific Projects Thesaurus 267
Computer-Based Patient Record Ontology 1
Congenital Heart Defects Ontology 5
Coronavirus Infectious Disease Ontology 77
COVID-19 Ontology 10
COVID-19OntologyInPatternMedicine 1
Covid19 Impact on Banking Ontology 1
Culture, Race, Ethnicity and Nationality Ontology 2
CYTOKINE 7
Dementia-Related Agitation Non-Pharmacological Treatment Ontology 1
Dementia-Related Emotional And Mood Disturbance Non-Pharmacological Treatment Ontology 1
Dementia-Related Psychotic Symptoms Non-Pharmacological Treatment Ontology 1
Dengue Fever Ontology 10
Dependency Layered Ontology for Radiation Oncology 2
Dermatology Lexicon 524
Diabetes Mellitus Diagnosis and Support Ontology 1
DICOM Controlled Terminology 2
Digital medicine Outcomes Value Set (DOVeS) Ontology 6,231
Disease core ontology applied to Rare Diseases 6,845
Disorders cluster 33
Dispedia Core Ontology 3
Drosophila Gross Anatomy Ontology 1
Drosophila Phenotype Ontology 4
Drug Database for Inborn Errors of Metabolism (DDIEM) Ontology 2
Drug Interaction and Evidence Ontology 2
Drug Target Ontology 540
Eagle-I Research Resource Ontology 1
Early Pregnancy Ontology 1
EDAM - The data analysis and management ontology 2
Educational Cluster 3
Eligibility Feature Hierarchy 1
eLTER Controlled Lists 1
Emergency care ontology 62
EMIF-AD ontology 2
eNanoMapper 1
Environmental conditions, treatments and exposures ontology 1
Enzyme Structure Function Ontology 1
Epigenetic Entity 2
Epigenome Ontology 4
Epilepsy and Seizure Ontology 130
Epilepsy Ontology 11
Epilepsy Semiology 49
Epilepsy Syndrome Seizure Ontology 51
EpilepsyOntology 100
Ethiopian OPD 1
EthiopianListOfDiseases 37
Ethnicity Ontoloy 4
Exercise Medicine Ontology 2
Experimental Conditions Ontology 4
Experimental Factor Ontology 11,364
Exposure Ontology 1
Fall Risk Management Ontology 3
Family Health History Ontology 1
Fanconi Anemia Ontology 126
Fission Yeast Phenotype Ontology 2
Flora Phenotype Ontology 2
FlyBase Controlled Vocabulary 2
FlyGlycoDB 1
FNS-Harmony 1,475
Food Interactions with Drugs Evidence Ontology 2
Foundational Model of Anatomy 27
Functional Therapeutic Chemical Classification System 141
FuTRES Ontology of Vertebrate Traits 2
G Protein-Coupled Receptor BioAssays Ontology 20
Galen Ontology 140
Gazetteer 2
Gender, Sex, and Sexual Orientation Ontology 47
Gene Expression Ontology 500
Gene Ontology 1
Gene Ontology Extension 12
Gene Regulation Ontology 1
Generic Dataset Metadata Template Vocabulary 2
Genomic Epidemiology Application Ontology 66
Genotype Ontology 1
Geographical Entity Ontology 1
Glioblastoma 3
Global Code Book Ontology 68
Glycomics Ontology 1
GlycoRDF 1
GO FAIR M4M 1
go-plus 51
Graphical Pathway Markup Language 1
Growth Medium Ontology 1
Head and Neck Cancer - Clinical and Gene Ontology 6
Head and Neck Cancer Ontology 2
Health and Social Person-centric Ontology 505
Health Level Seven Reference Implementation Model, Version 3 16
Health Surveillance Ontology 1
Health_ontology 1,466
Hearing Impairment Ontology 22
Heart Failure Ontology 28
HGNC New Releases Ontology 13
HHEAR Properties 1
HIVOntologymain.owl 3
HNS_Ontolgoy 49
Holistic Ontology of Rare Diseases 3
Homeostasis imbalance process ontology 57
Host Pathogen Interactions Ontology 1
HPO - ORDO Ontological Module 151
HUGO Gene Nomenclature 1
Human Ancestry Ontology 115
Human Dermatological Disease Ontology 542
Human Developmental Anatomy Ontology, abstract version 2 1
Human Disease Ontology 1,559
Human Health Exposure Analysis Resource 1,584
Human Interaction Network Ontology 26
Human Phenotype Ontology 399
Human Physiology Simulation Ontology 11
Human Reference Atlas 3
Human Reference Atlas Common Coordinate Framework Ontology 6
Human-Aware Science Ontology 1
Hymenoptera Anatomy Ontology 1
Hypersensitivity pneumonitis ontology 3
Hypertension Ontology 6
Immunogenetics Ontology 3
Indian Biodiversity Ontology 2
IndianBiodiversity 2
Infectious Disease Ontology 4
Influenza Ontology 1
Information Artifact Ontology 1
Informed Consent Ontology 1
Inherited Retinal Dystrophy 100
Integrated Ontology for Symptom Phenotype Terminologies 6
Integrative and Conjugative Element Ontology 1
Intelligence Task Ontology 1
Interaction Network Ontology 1
Interlinking Ontology for Biological Concepts 1,281
International Classification for Nursing Practice 1
International Classification of Diseases Ontology 5
International Classification of Diseases, Version 10 215
International Classification of Diseases, Version 10 - Clinical Modification 408
International Classification of Diseases, Version 9 - Clinical Modification 211
International Classification of Primary Care - 2 PLUS 103
International Society for the Study of Vascular Anomalies (ISSVA) Ontology 40
Just Enough Results Model Ontology 1
KB_Bio_101 32
Kidney Tissue Atlas Ontology 798
Liver Cancer Ontology Diagnosis Treatment 1
Liver Case Ontology (LiCO) 1
Livestock Breed Ontology 1
Logical Observation Identifier Names and Codes 431
Major Histocompatibility Complex Ontology 1
Malaria Ontology 5
Mammalian Feeding Muscle Ontology 1
Mammalian Phenotype Ontology 71
Mapping of Drug Names and MeSH 2022 659
Mapping of Epilepsy Ontologies 94
Mass Spectrometry Ontology 1,829
MaterialsMine Ontology 1
Mathematical Modelling Ontology 1
Medaka Fish Anatomy and Development Ontology 2
Medical Action Ontology 10
Medical Dictionary for Regulatory Activities Terminology (MedDRA) 1,358
Medical image simulation 53
Medical Imaging and Diagnostic Ontology 616
Medical Subject Headings 1,692
Medical Technology Innovation in healthcare centers 1
Medical Web Lifestyle Aggregator 1
MedlinePlus Health Topics 110
Melanoma Ontology 3
MFO Mental Disease Ontology 8
MHC Restriction Ontology 1
Microarray and Gene Expression Data Ontology 1
Microbial Typing Ontology 5
Minimal Information about any Sequence (MIxS) Controlled Vocabularies 114
Minimal Standard Terminology of Digestive Endoscopy 4
Minimum PDDI Information Ontology 1
Model Card Report Ontology 1
Modern Science Ontology 2
Molecular Interaction Map 1
Molecular Interactions 1
Mondo Disease Ontology 6,186
Mosquito Vector Association Ontology with Biocontrol Agents 4
Mouse Adult Gross Anatomy Ontology 1
Mouse gross anatomy and development, timed 1
Mouse Pathology Ontology 68
Multiple sclerosis ontology 13
mymedicalinformation 1
Myocardial Infarction Ontology 82
Nanbyo Disease Ontology 925
National Cancer Institute Thesaurus 1,901
National Center for Biotechnology Information (NCBI) Organismal Classification 7
National Drug Data File 9
National Drug File - Reference Terminology 7
Natural Products Ontology 668
Neomark Oral Cancer Ontology, version 3 1
Neomark Oral Cancer Ontology, version 4 1
Neural Electronic Interface Ontology 2
Neural Motor Recovery Ontology 1
NeuralReprogrammingOntology 13
Neuro Behavior Ontology 7
NeuroBridge Ontology 5
Neurodegenerative Disease Data Ontology 13
Neurologic Examination Ontology 14
NeuroMorpho.Org brain region ontologies 8
Neuron Phenotype Ontology 4
Neuropsychological Integrative Ontology 18
Neuroscience Information Framework (NIF) Cell Ontology 3
Neuroscience Information Framework (NIF) Dysfunction Ontlogy 63
Neuroscience Information Framework (NIF) Standard Ontology 2,874
Neuroscience Information Framework (NIF) Subcellular Ontology 2
Next Generation Biobanking Ontology 2
NIH NLM Value Sets 138
NLighten Ontology 1
NMDC Ontology 3
NND_Neuropathological_Diagnosis 13
Non-coding RNA Ontology 2
Nurse Administrator 1
Nurse Surgical 1
Nurse Transitional 1
Nursing Care Coordination Ontology 1
Obstetric and Neonatal Ontology 10
OCD ontology 7
Ocular Immune-Mediated Inflammatory Diseases Ontology 46
Online Mendelian Inheritance in Man 3,840
OntoFood 2
Ontological Knowledge Base Model for Cystic Fibrosis 1
Ontology for Biobanking 3
Ontology for Biomedical Investigations 12
Ontology for Drug Discovery Investigations 1
Ontology for ELEctronic tool for Clinicians, Trainers and Researchers In Child Abuse 3
Ontology for General Medical Science 2
Ontology for Generic Dataset Metadata Template 1
Ontology for Genetic Disease Investigations 4
Ontology for Genetic Interval 2
Ontology for Genetic Susceptibility Factor 1
Ontology for MicroRNA Target 741
Ontology for Modeling and Representation of Social Entities 1
Ontology for Newborn Screening Follow-up and Translational Research 4
Ontology for Nutritional Epidemiology 4
Ontology for Nutritional Studies 2
Ontology for Parasite LifeCycle 1
Ontology for Representing CDM Semantics 1
Ontology for the Anatomy of the Insect SkeletoMuscular system 2
Ontology of Adverse Events 2
Ontology of amyotrophic lateral sclerosis, social module 1
Ontology of Amyotrophic Lateral Sclerosis, all modules 3
Ontology of Biological Attributes 713
Ontology of Clinical Research 1
Ontology of Consumer Health Vocabulary 1,410
Ontology of Core Data Mining Entities 1
Ontology of Drug Adverse Events 29
Ontology of Genes and Genomes 6
Ontology of Genes and Genomes - Mouse 2
Ontology of Geographical Region 6
Ontology of Glucose Metabolism Disorder 15
Ontology of Host-Microbe Interactions 5
Ontology of Host-Pathogen Interactions 7
Ontology of Laboratory Animal Medicine 4
Ontology of Laboratory Animal Science 5
Ontology of Nuclear Toxicity 1
Ontology of Organizational Structures of Trauma centers and Trauma systems 1
Ontology of Physical Exercises 1
Ontology of Pneumology 2
Ontology of Precision Medicine and Investigation 1
Ontology of Risk Stratification in Mental Health 2
OntoPsychia, social module 1
OpenCareOntology 2
Optimization Algorithm Benchmarking Ontology 1
Parasite Experiment Ontology 1
Parkinson and Movement Disorder Ontology 15
Parkinson's Disease Ontology 16
Pathogen Host Interaction Phenotype Ontology 1
Pathogen Transmission Ontology 1
Pathogenic Disease Ontology 53
Pathway Ontology 2
Pathway Terminology System 3
Pediatric Consultation and Monitoring Ontology 1
Pediatric Terminology 133
Performance Summary Display Ontology 2
Persian Medicine Diseases Ontology 1
PGxO 1
Pharmacogenomic Relationships Ontology 2
Pharmacovigilance Ontology 1
Phenotypic Quality Ontology 2
PhenX Phenotypic Terms 1
Phylogenetics Ontology 1
Physical Medicine and Rehabilitation 3
Physician Data Query 166
Pipeline Patterns Ontology 1
Placental Maternal Health Conditions 24
Planarian Phenotype Ontology 1
Plant Breeding Ontology 1
Plant Diversity Ontology 1
Plant Experimental Assay Ontology 1
Plant Stress Ontology 1
PLOS Thesaurus 233
PMO Precision Medicine Ontology 1,031
Pneumonia Diagnosis Ontology 24
Population and Community Ontology 1
Portfolio Management Application 1
postpartum depression ontology 6
Pre-eclampsia Ontology 12
Precision Medicine Ontology 3
Preposition_enabled Spatial Ontology 1
Presence Ontology 1
Prostate Cancer Lifestyle Ontology 5
Prostate Cancer Ontology 2
Protein Ontology 1,121
Provisional Cell Ontology 8
Psychology Ontology 44
Psychometric Ontology of Experiences and Measures 2
Radiation Biology Ontology 9
Radiology Gamuts Ontology 109,997
Radiology Lexicon 232
RADx Data Hub Metadata Ontology 2
Read Clinical Terminology Version 2 464
Read Codes, Clinical Terms Version 3 (CTV3) 916
RegenBase ontology 6
Regulation of Gene Expression Ontolology 500
Regulation of Transcription Ontology 499
Relations Ontology 1
REPRODUCE-ME 1
Research Network and Patient Registry Inventory Ontology 1
Resource of Asian Primary Immunodeficiency Diseases (RAPID) Phenotype Ontology 66
Reusable Biodiversity Ontology 2
Rheumatoid Arthritis ontology 2
Robert Hoehndorf Version of MeSH 3,974
RxNORM 24
Santa Barbara Coastal Observation Ontology 1
Scientific Evidence and Provenance Information Ontology 1
Semantic Web for Earth and Environment Technology Ontology 1
Semanticscience Integrated Ontology 1
Sepsis Ontology 27
Sequence Types and Features Ontology 4
Sickle Cell Disease Ontology 26
Single-Nucleotide Polymorphism (SNP) Ontology 2
Skin Physiology Ontology 2
Sleep Domain Ontology 4
SLEEP ontology 3
SmartPITeS Proyect Ontology for Complex Chronic Patients 1
SNOMED CT 4,344
Software Ontology 1
Space Life Sciences Ontology 1
Spider Anatomy Ontology 1
Statistics Ontology 2
STO 65
Student Health Record Ontology 4
Study Cohort Ontology 1
Subcellular Anatomy Ontology 3
Suggested Ontology for Pharmacogenomics 220
suicideonto 1
Surgical Secondary Events 1
Symptom Ontology 4
symptomatic treatment of multiple sclerosis ontology 1
Systematized Nomenclature of Medicine, International Version 655
Systems Biology Ontology 1
Taxonomic Rank Vocabulary 1
Taxonomy for Rehabilitation of Knee Conditions 5
Teleost Anatomy Ontology 1
Teleost Taxonomy Ontology 3
Test NXDX 5
test1 1
TEST_A 1
The Amphioxus Development and Anatomy Ontology 1
The Biomarker Ontology 15
The COVID-19 Infectious Disease Ontology 4
The Data Use Ontology 1
The Drug Ontology 9
The Drug-Drug Interactions Ontology 288
The Echinoderm Anatomy and Development Ontology 2
The FoodOn Food Ontology 2
The NeIC PaRI beer vocabulary 1
The Ontology for Biomedical Investigation based Inner Ear Electrophysiology 4
The Oral Health and Disease Ontology 2
The Prescription of Drugs Ontology 21
The Stroke Ontology 65
Thesaurus for long-term ecological research, monitoring, experiments 2
thesisdemo 1
Thyroid Cancer Ontology 7
Tick Gross Anatomy Ontology 1
Time Event Ontology 1
Toxic Process Ontology 38
Translational Medicine Ontology 1
Tribolium Ontology 1
Uber Anatomy Ontology 14
Vaccination Informed Consent Ontology 5
Vaccine Ontology 29
Variation Ontology 4
Vertebrate Taxonomy Ontology 4
Veterans Health Administration National Drug File 9
VEuPathDB Ontology 27
Viral Disease Ontology Trunk 6
Virus Infectious Disease Ontology 4
Vital Sign Ontology 1
VODAN ANC Vocabulary 1
VODANA-COVIDTERMS 10
VODANADiseases 23
VODANAFACILITIESLIST 4
VODANATERMS 2
WHO COVID-19 Rapid Version CRF semantic data model 2
Whole-cell modeling ontology 1
WikiPathways 1
Women with Epilepsy of Child-bearing Age Ontology 16
World Health Organization (WHO) Adverse Reaction Terminology 42
Xenopus Anatomy Ontology 1
Xenopus Phenotype Ontology 2
Zebrafish Anatomy and Development Ontology 2
Zebrafish Developmental Stages 1
Zebrafish Phenotype Ontology 20
ZonMW COVID-19 1
ZonMw Generic Terms 1
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