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Standards Ontologies Notations
Leber congenital amaurosis 13

Summary
Synonym
  • LCA13
Definition
A Leber congenital amaurosis thatis characterized by mild or absent hyperopia, transient improvement of visual acuity, and eventual macular atrophy with severe disease progression and has_material_basis_in mutation in the RDH12 gene on chromosome 14q23.3.
Super Class
Leber congenital amaurosis autosomal dominant disease autosomal recessive disease
Disease Ontology
DOID:0110330
Mondo Disease Ontology
MeSH
OMIM
The Human Phenotype Ontology
Displaying entries 31 - 39 of 39 in total
HPO ID HPO Term
HP:0001252 Hypotonia
HP:0004374 Hemiplegia/hemiparesis
HP:0002084 Encephalocele
HP:0001141 Severely reduced visual acuity
HP:0002269 Abnormality of neuronal migration
HP:0001250 Seizure
HP:0006817 Aplasia/Hypoplasia of the cerebellar vermis
HP:0001263 Global developmental delay
HP:0012795 Abnormal optic disc morphology
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
5130 PCYT1A phosphate cytidylyltransferase 1A, choline
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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: December 9, 2024