cone-rod dystrophy 15

Summary
Synonym
  • CORD15
Definition
A cone-rod dystrophy that has_material_basis_in homozygous mutation in the CDHR1 gene on chromosome 10q23.
Super Class
cone-rod dystrophy
External Links
Disease Ontology
DOID:0111021
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
92211 CDHR1 cadherin related family member 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
170677 Cdhr1 cadherin-related family member 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
93662 Cdhr1 cadherin-related family member 1
Displaying all 2 entries
Gene ID Gene Symbol Description Source
41302 Cad86C Cadherin 86C
41441 Cad87A Cadherin 87A
The Human Phenotype Ontology
Displaying entries 1 - 10 of 29 in total
HPO ID HPO Term
HP:0000407 Sensorineural hearing impairment
HP:0000135 Hypogonadism
HP:0000505 Visual impairment
HP:0000035 Abnormal testis morphology
HP:0000501 Glaucoma
HP:0000405 Conductive hearing impairment
HP:0000563 Keratoconus
HP:0000639 Nystagmus
HP:0000543 Optic disc pallor
HP:0000662 Nyctalopia
Displaying all 8 entries
Gene ID Gene Symbol Description
138050 HGSNAT heparan-alpha-glucosaminide N-acetyltransferase
3419 IDH3A isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha
3420 IDH3B isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta
5158 PDE6B phosphodiesterase 6B
55624 POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
762 CA4 carbonic anhydrase 4
79947 DHDDS dehydrodolichyl diphosphate synthase subunit
93589 CACNA2D4 calcium voltage-gated channel auxiliary subunit alpha2delta 4

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Acknowledgements

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Last updated: August 19, 2024