loading...| Preferred Name | CONE-ROD SYNAPTIC DISORDER, CONGENITAL NONPROGRESSIVE | |
| Synonyms |
CSNB2B, FORMERLY NIGHT BLINDNESS, CONGENITAL STATIONARY, INCOMPLETE, AUTOSOMAL RECESSIVE, FORMERLY NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2B, FORMERLY CRSD |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/610427 |
|
| altLabel |
CSNB2B, FORMERLY NIGHT BLINDNESS, CONGENITAL STATIONARY, INCOMPLETE, AUTOSOMAL RECESSIVE, FORMERLY NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2B, FORMERLY CRSD |
|
| cui |
C4041558 |
|
| Gene Locus |
11q13.1 |
|
| Gene Symbol |
CRSD CABP4 CSNB2B |
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU068777 http://purl.bioontology.org/ontology/OMIM/MTHU036378 http://purl.bioontology.org/ontology/OMIM/MTHU042237 http://purl.bioontology.org/ontology/OMIM/MTHU050252 http://purl.bioontology.org/ontology/OMIM/MTHU050247 http://purl.bioontology.org/ontology/OMIM/MTHU000389 http://purl.bioontology.org/ontology/OMIM/MTHU003279 http://purl.bioontology.org/ontology/OMIM/MTHU068778 http://purl.bioontology.org/ontology/OMIM/MTHU050256 http://purl.bioontology.org/ontology/OMIM/MTHU050255 http://purl.bioontology.org/ontology/OMIM/MTHU068779 http://purl.bioontology.org/ontology/OMIM/MTHU050253 |
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
| notation |
610427 |
|
| OMIM Entry Type |
3 |
|
| OMIM MimType Value |
pound |
|
| prefLabel |
CONE-ROD SYNAPTIC DISORDER, CONGENITAL NONPROGRESSIVE |
|
| Scope Statement |
Congenital reduction in visual acuity is nonprogressive [MISCELLANEOUS] Caused by mutation in the calcium-binding protein-4 gene (CABP4, 608965.0001) [MOLECULAR BASIS] |
|
| tui |
T047 |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.bioontology.org/ontology/MESH/C536122 | MESH | CUI | |
| http://purl.obolibrary.org/obo/MONDO_0012490 | MONDO | LOOM | |
| http://purl.obolibrary.org/obo/MONDO_0012490 | DOVES | LOOM | |
| http://www.semanticweb.org/hamide/ontologies/2019/3/IRD_7_1_4 | HAMIDEHSGH | LOOM |