Axenfeld-Rieger syndrome type 1
Axenfeld-Rieger syndrome that has material basis in heterozygous mutation in the homeobox transcription factor gene PITX2 on chromosome 4q25
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Summary
Axenfeld-Rieger syndrome type 1 is a rare disease[1].
Key Facts
- Axenfeld-Rieger syndrome type 1's instance of is recorded as rare disease[2].
- Axenfeld-Rieger syndrome type 1's instance of is recorded as class of disease[3].
- Axenfeld-Rieger syndrome type 1's subclass of is recorded as Axenfeld-Rieger syndrome[4].
- Axenfeld-Rieger syndrome type 1's OMIM ID is recorded as 180500[5].
- Axenfeld-Rieger syndrome type 1's Disease Ontology ID is recorded as DOID:0110120[6].
- Axenfeld-Rieger syndrome type 1's NCI Thesaurus ID is recorded as C75015[7].
- Axenfeld-Rieger syndrome type 1's health specialty is recorded as medical genetics[8].
- Axenfeld-Rieger syndrome type 1's genetic association is recorded as PITX2[9].
- Axenfeld-Rieger syndrome type 1's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0110120[10].
- Axenfeld-Rieger syndrome type 1's exact match is recorded as http://identifiers.org/doid/DOID:0110120[11].
- Axenfeld-Rieger syndrome type 1's UMLS CUI is recorded as C3714873[12].
- Axenfeld-Rieger syndrome type 1's ICD-10-CM is recorded as triskaidekaphobia.8[13].
- Axenfeld-Rieger syndrome type 1's on focus list of Wikimedia project is recorded as WikiProject Medicine[14].
- Axenfeld-Rieger syndrome type 1's Mondo ID is recorded as MONDO_0008386[15].
- Axenfeld-Rieger syndrome type 1's UniProt disease ID is recorded as DI-01265[16].