Usher syndrome type 2C
Usher syndrome type 2 that has material basis in homozygous or compound heterozygous mutation in the ADGRV1 gene on chromosome 5q14
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Usher syndrome type 2C
Summary
Usher syndrome type 2C is a rare disease[1].
Key Facts
- Usher syndrome type 2C's instance of is recorded as rare disease[2].
- Usher syndrome type 2C's instance of is recorded as class of disease[3].
- Usher syndrome type 2C's subclass of is recorded as Usher syndrome type 2[4].
- Usher syndrome type 2C's MeSH descriptor ID is recorded as C536492[5].
- Usher syndrome type 2C's OMIM ID is recorded as 605472[6].
- Usher syndrome type 2C's OMIM ID is recorded as 605472[7].
- Usher syndrome type 2C's Disease Ontology ID is recorded as DOID:0110839[8].
- Usher syndrome type 2C's NCI Thesaurus ID is recorded as C153174[9].
- Usher syndrome type 2C's genetic association is recorded as PDZD7[10].
- Usher syndrome type 2C's genetic association is recorded as ADGRV1[11].
- Usher syndrome type 2C's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0110839[12].
- Usher syndrome type 2C's exact match is recorded as http://identifiers.org/doid/DOID:0110839[13].
- Usher syndrome type 2C's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_231178[14].
- Usher syndrome type 2C's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_886[15].
- Usher syndrome type 2C's UMLS CUI is recorded as C3148929[16].
- Usher syndrome type 2C's UMLS CUI is recorded as C2931213[17].
- Usher syndrome type 2C's UMLS CUI is recorded as C2676439[18].
- Usher syndrome type 2C's UMLS CUI is recorded as C1854237[19].
- Usher syndrome type 2C's ICD-10-CM is recorded as H35.5[20].
- Usher syndrome type 2C's GARD rare disease ID is recorded as 8497[21].
- Usher syndrome type 2C's on focus list of Wikimedia project is recorded as WikiProject Medicine[22].
- Usher syndrome type 2C's Mondo ID is recorded as MONDO_0011558[23].
- Usher syndrome type 2C's UniProt disease ID is recorded as DI-01119[24].