branchiootic syndrome
syndrome characterized by malformations of the outer, middle and inner ear and branchial and renal malformations. Mutations of the EYA1, SIX1 and SIX5 genes are associated with the syndrome
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branchiootic syndrome
Summary
branchiootic syndrome is a head and neck disease[1].
Key Facts
- branchiootic syndrome's instance of is recorded as head and neck disease[2].
- branchiootic syndrome's instance of is recorded as developmental defect during embryogenesis[3].
- branchiootic syndrome's instance of is recorded as rare disease[4].
- branchiootic syndrome's instance of is recorded as class of disease[5].
- branchiootic syndrome's subclass of is recorded as syndrome[6].
- branchiootic syndrome's MeSH descriptor ID is recorded as C565171[7].
- branchiootic syndrome's OMIM ID is recorded as 602588[8].
- branchiootic syndrome's OMIM ID is recorded as 608389[9].
- branchiootic syndrome's OMIM ID is recorded as 120502[10].
- branchiootic syndrome's Disease Ontology ID is recorded as DOID:0060232[11].
- branchiootic syndrome's Orphanet ID is recorded as 52429[12].
- branchiootic syndrome's health specialty is recorded as medical genetics[13].
- branchiootic syndrome's genetic association is recorded as SIX1[14].
- branchiootic syndrome's genetic association is recorded as EYA1[15].
- branchiootic syndrome's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0060232[16].
- branchiootic syndrome's exact match is recorded as http://identifiers.org/doid/DOID:0060232[17].
- branchiootic syndrome's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_52429[18].
- branchiootic syndrome's UMLS CUI is recorded as C1852718[19].
- branchiootic syndrome's ICD-10-CM is recorded as Q87.0[20].
- branchiootic syndrome's GARD rare disease ID is recorded as 10148[21].
- branchiootic syndrome's on focus list of Wikimedia project is recorded as WikiProject Medicine[22].
- branchiootic syndrome's Mondo ID is recorded as MONDO_0007360[23].