Trait name: Type in a term that is part of a trait name; e.g. "myopathy" Trait ID (OMIA ID): Type in one or more comma-separated numbers each of which is a trait record identifier (OMIA id); e.g. "001081" or "001081,001199" Species-specific trait name: Type in a term that is part of a species-specific trait name; e.g. "Alport syndrome" Species-specific trait summary: Type in a term that is part of a species-specific trait summary; e.g. "causative mutation" Species-specific trait symbol: Type in a term that is part of a species-specific trait symbol; e.g. "HFMD" Species NCBI taxonomy ID: Type in one or more comma-separated numbers each of which is a record identifer in the NCBI taxonomy database; e.g. "9913" or "9913,9615" Species scientific name: Type in a term that is part of a species scientific (binomial) name; e.g. "taurus" Species common name: Type in a term that is part of a species common name; e.g. "cattle" Marker: Type in a term that is part of the field describing markers for a trait; e.g. "RFLP" Clinical features: Type in a term that is part of the field describing clinical features of a trait; e.g. "seizure" Genetic testing: Type in a term that is part of the field describing genetic testing for a trait; e.g. "genotyping test" Mode of inheritance: --- Autosomal Autosomal co-dominant Autosomal dominant Autosomal incomplete dominant Autosomal recessive Autosomal recessive lethal Autosomal recessive, semi-lethal Dominant Multifactorial Probably autosomal recessive Sex-linked X-linked Y-linked Z-linked Z-linked recessive X-linked recessive Z-linked incomplete dominant Maternal Sex limited Autosomal dominant with variable expressivity X-linked dominant Autosomal dominant + recessive lethal X-linked incomplete dominant Autosomal dominant with incomplete penetrance Mitochondrial Somatic mutation Recessive Autosomal semi-dominant Choose a mode of inheritance Variant ID or rsID: Enter one or more internal OMIA variant IDs (e.g. 366), or rsID/ssIDs from the European Variation Archive (e.g. rs1152388423). Separate IDs with a comma if entering multiple (e.g. "366,282") Source of genetic variant: --- Naturally occurring variant Genome-editing (CRISPR-Cas9) Genome-editing (TALEN) Genome-editing (ZFN) Transgenesis via pronuclear microinjection Transgenesis via viral vectors Transgenesis via embryonic stem cells Transgenesis via somatic cell nuclear transfer (SCNT) Chemical mutagenesis (ENU) Transposon mutagenesis Genome editing (CRISPR/Cpf1) Base-editing Choose a source of genetic variant Inheritance details: Type in a term that is part of the field describing genetic inheritance of a trait; e.g. "low heritability" Molecular genetics: Type in a term that is part of the field describing molecular genetics of a trait; e.g. "nonsense mutation" Genetic mapping: Type in a term that is part of the field describing genetic mapping of a trait; e.g. "long arm of chromosome 1" History: Type in a term that is part of the field describing the history of a trait; e.g. "Darwin" Control: Type in a term that is part of the field describing control of a trait; e.g. "detection of carriers" Pathology: Type in a term that is part of the field describing pathology of a trait; e.g. "pulmonary oedema" Prevalence: Type in a term that is part of the field describing prevalence of a trait; e.g. "Netherlands" Model of human disease: --- yes no Choose "yes" to find records which have are cross-referenced to MIM (i.e. can be considered as models of human disease); choose "no" to exclude these records MIM ID: Type in one or more comma-separated numbers each of which is a MIM (Mendelian Inheritance in Man) record identifier ; e.g. "104000" or "104000,605080" Disease-related: --- yes no unknown Choose "yes" to find records which are considered to be diseases or defects Single-gene trait/disorder: --- yes no unknown Choose "yes" to find records which are known to be single-gene traits/disorders Key mutation known: --- yes no Choose "yes" to find records for which the key mutation of the trait is known Gene ID: Type in one or more comma-separated numbers each of which is a record identifier in the NCBI gene database; e.g. "280706" or "280706,403554" Gene symbol: Type one or more comma-separated gene symbols; e.g. "TG" or "TG,TYR" Gene synonym: Search gene synonyms as well as gene symbols Gene description: Type in a term that is part of a gene description; e.g. "thyroglobulin" Breeds: Type in a term that is part of a breed name, e.g. "Nubian" Mondo ID: Enter one or more IRIs (e.g. "http://purl.obolibrary.org/obo/MONDO_0010602") or OBO IDs (e.g. "MONDO:0010602") for Mondo terms, separated by commas Article PubMed ID: Type in one or more comma-separated numbers each of which is an NCBI PubMed identifier; e.g. "7198647" or "7198647,22065099" Article author: Type in a term that is part of an author name; e.g. "Smith" or "Smith, P" Article title: Type in a term that is part of an article title; e.g. "birth weight" Article keyword: Type in a keyword that is associated with an article; e.g. "wool" Categories: --- Skeleton phene (incl. short stature & teeth) Cardiovascular system phene Lysosomal storage disease Pigmentation phene Vision / eye phene Reproductive system phene Mortality / aging (incl. embryonic lethal) Neoplasm Integument (skin) phene Hearing / vestibular / ear phene Haematopoietic system phene Nervous system phene Respiratory system phene Growth / size / body region phene Homeostasis / metabolism phene Digestive / alimentary phene Limbs / fins / digit / tail phene Adipose tissue phene Behaviour / neurological phene Cellular phene Craniofacial phene Endocrine / exocrine gland phene (incl mammary gland) Immune system phene Liver/biliary system phene Muscle phene Normal phene Renal / urinary system phene Taste / olfaction phene Embryo phene Chromosomal disorder Choose one or more categories. Hold Ctrl (Windows) or Command (Mac) while clicking to select multiple categories. Multiple categories will be combined with AND (returning only phenes that belong to all the selected categories). Created on or before: --- January February March April May June July August September October November December --- 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 31 --- 2005 2006 2007 2008 2009 2010 2011 2012 2013 2014 2015 2016 2017 2018 2019 2020 2021 2022 2023 2024 2025 Choose latest allowable record creation date Created on or after: --- January February March April May June July August September October November December --- 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 31 --- 2005 2006 2007 2008 2009 2010 2011 2012 2013 2014 2015 2016 2017 2018 2019 2020 2021 2022 2023 2024 2025 Choose earliest allowable record creation date Last modified on or before: --- January February March April May June July August September October November December --- 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 31 --- 2005 2006 2007 2008 2009 2010 2011 2012 2013 2014 2015 2016 2017 2018 2019 2020 2021 2022 2023 2024 2025 Choose latest allowable date of last modification of record Last modified on or after: --- January February March April May June July August September October November December --- 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 31 --- 2005 2006 2007 2008 2009 2010 2011 2012 2013 2014 2015 2016 2017 2018 2019 2020 2021 2022 2023 2024 2025 Choose earliest allowable date of last modification of record