Usher syndrome type 1D
Usher syndrome type 1 that has material basis in homozygous or compound heterozygous mutation in the CDH23 gene on chromosome 10q22
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Usher syndrome type 1D
Summary
Usher syndrome type 1D is a rare disease[1].
Key Facts
- Usher syndrome type 1D's instance of is recorded as rare disease[2].
- Usher syndrome type 1D's instance of is recorded as class of disease[3].
- Usher syndrome type 1D's subclass of is recorded as Usher syndrome type 1[4].
- Usher syndrome type 1D's subclass of is recorded as digenic disease[5].
- Usher syndrome type 1D's OMIM ID is recorded as 601067[6].
- Usher syndrome type 1D's OMIM ID is recorded as 601067[7].
- Usher syndrome type 1D's Disease Ontology ID is recorded as DOID:0110831[8].
- Usher syndrome type 1D's genetic association is recorded as CDH23[9].
- Usher syndrome type 1D's genetic association is recorded as PCDH15[10].
- Usher syndrome type 1D's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0110831[11].
- Usher syndrome type 1D's exact match is recorded as http://identifiers.org/doid/DOID:0110831[12].
- Usher syndrome type 1D's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_231169[13].
- Usher syndrome type 1D's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_886[14].
- Usher syndrome type 1D's UMLS CUI is recorded as C3152102[15].
- Usher syndrome type 1D's UMLS CUI is recorded as C1832845[16].
- Usher syndrome type 1D's UMLS CUI is recorded as C3275872[17].
- Usher syndrome type 1D's ICD-10-CM is recorded as H35.5[18].
- Usher syndrome type 1D's GARD rare disease ID is recorded as 5438[19].
- Usher syndrome type 1D's on focus list of Wikimedia project is recorded as WikiProject Medicine[20].
- Usher syndrome type 1D's Mondo ID is recorded as MONDO_0010984[21].
- Usher syndrome type 1D's UniProt disease ID is recorded as DI-01114[22].