| Identifier Type | Value/ID | Description |
|---|---|---|
| Disease name | GUCY2D-related retinopathy | Umbrella term covering retinal disease caused by pathogenic variants in **GUCY2D**; includes recessive early-onset disease and dominant cone/cone-rod dystrophy presentations (pqac-00000001, pqac-00000003) |
| Gene symbol | GUCY2D | Human gene encoding retinal guanylate cyclase-1 / RetGC-1, critical for photoreceptor cGMP resynthesis during recovery after phototransduction (pqac-00000002, pqac-00000009) |
| OMIM (gene) | 600179 | **GUCY2D** gene entry; cited in recent reviews of GUCY2D-associated retinal disease (pqac-00000001, pqac-00000002) |
| Ensembl gene ID | ENSG00000132518 | Ensembl identifier for **GUCY2D**; Open Targets links this target to LCA1, CORD6, and GUCY2D-related recessive retinopathy (pqac-00000000) |
| Chromosomal location | 17p13.1 | Cytogenetic location of **GUCY2D** reported in genotype-phenotype reviews (pqac-00000006) |
| MONDO | MONDO_0100453 | **GUCY2D-related recessive retinopathy**; disease ontology entry corresponding to recessive GUCY2D-associated retinal disease (pqac-00000000) |
| MONDO | MONDO_0008764 | **Leber congenital amaurosis 1 (LCA1)**; ontology disease entry associated with **GUCY2D** (pqac-00000000) |
| MONDO | MONDO_0011143 | **cone-rod dystrophy 6 (CORD6)**; ontology disease entry associated with **GUCY2D** (pqac-00000000) |
| OMIM (disease) | 204000 | **Leber congenital amaurosis 1 (LCA1)**; severe congenital/early infantile retinal dystrophy caused by biallelic loss-of-function **GUCY2D** variants (pqac-00000002, pqac-00000003) |
| OMIM (disease) | 601777 | **cone-rod dystrophy 6 (CORD6)**; autosomal dominant progressive cone/cone-rod dystrophy associated with heterozygous **GUCY2D** variants, often at codon 838 (pqac-00000001, pqac-00000019) |
| Orphanet | Leber congenital amaurosis | Orphanet disease concept relevant to the recessive early-onset **GUCY2D** phenotype; recent reviews state **GUCY2D** accounts for ~6–21% of LCA cases (pqac-00000002, pqac-00000020) |
| Orphanet | Cone rod dystrophy | Orphanet disease concept relevant to the dominant **GUCY2D** phenotype; Open Targets maps cone rod dystrophy as Orphanet_1872 and associates **GUCY2D** with it (pqac-00000000) |
| Inheritance pattern | Autosomal recessive | Typical for **GUCY2D-LCA / LCA1 / EOSRD**; usually caused by biallelic loss-of-function variants (pqac-00000002, pqac-00000003, pqac-00000010) |
| Inheritance pattern | Autosomal dominant | Typical for **GUCY2D-associated cone dystrophy / cone-rod dystrophy (CORD6)**; often caused by gain-of-function variants, especially around codon 838 (pqac-00000001, pqac-00000009, pqac-00000010) |
| Common synonym | GUCY2D-LCA | Common shorthand for autosomal recessive GUCY2D-associated Leber congenital amaurosis (pqac-00000003, pqac-00000014) |
| Common synonym | LCA1 | Historic and commonly used synonym for GUCY2D-associated recessive congenital retinal dystrophy (pqac-00000002, pqac-00000035) |
| Common synonym | CORD6 | Historic and commonly used synonym for autosomal dominant GUCY2D-associated cone-rod dystrophy (pqac-00000000, pqac-00000022) |


*Table: This table compiles the core identifiers and nomenclature needed to index GUCY2D-related retinopathy in a disease knowledge base. It links the gene, major phenotype-specific disease entries, ontology terms, and inheritance patterns supported by the retrieved evidence.*