helicoid peripapillary chorioretinal degeneration

An eye disease characterized by presence in the fundus of progressive bilateral retinal and choroidal atrophy leading to central vision loss that has material basis in heterozygous muation in TEAD1 on 11p15.3.

helicoid peripapillary chorioretinal degeneration is …
instance of (P31):
rare diseaseQ929833
class of diseaseQ112193867

sublass of (P279):
eye diseaseQ3041498
fundus dystrophyQ5811451

External links are
P699Disease Ontology IDDOID:0111228
P2888exact matchhttp://identifiers.org/doid/DOID:0111228
http://purl.obolibrary.org/obo/DOID_0111228
http://www.orpha.net/ORDO/Orphanet_86813
P4229ICD-10-CMH31.2
P7807ICD-11 (foundation)896652469
P665KEGG IDH01180
P486MeSH descriptor IDC566236
P5270Mondo IDMONDO_0007176
P492OMIM ID108985
108985
P1550Orphanet ID86813
P2892UMLS CUIC1862382
P11430UniProt disease IDDI-02349

P2293genetic associationTEAD1Q18031935
P5008on focus list of Wikimedia projectWikiProject MedicineQ4099686

Reverse relations

main subject (P921)
Q28250007A novel TEAD1 mutation is the causative allele in Sveinsson's chorioretinal atrophy (helicoid peripapillary chorioretinal degeneration)
Q88310196Analysis of helicoidal peripapillary chorioretinal degeneration progression in an elderly Chinese female patient
Q72961227Considerations on the etiopathogenesis of helicoid peripapillary chorioretinal degeneration
Q68721445Helicoid peripapillary chorioretinal degeneration
Q86633752Helicoid peripapillary chorioretinal degeneration complicated by choroidal neovascularization
Q74262179Helicoid peripapillary chorioretinal degeneration in abetalipoproteinemia
Q35304239Helicoidal peripapillary chorioretinal degeneration: electrophysiology and psychophysics in 17 patients.
Q28304122Mapping the locus of atrophia areata, a helicoid peripapillary chorioretinal degeneration with autosomal dominant inheritance, to chromosome 11p15
Q50096694Sveinsson Chorioretinal Atrophy: Helicoid Peripapillary Chorioretinal Degeneration.
Q79879350Sveinsson chorioretinal atrophy/helicoid peripapillary chorioretinal degeneration: first histopathology report
Q33293390Sveinsson chorioretinal atrophy: the mildest changes are located in the photoreceptor outer segment/retinal pigment epithelium junction
Q80770321[Helicoidal peripapillary chorioretinal degeneration (HCPD)]

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