loading...| Preferred Name |
autosomal dominant keratitis |
|
| Synonyms |
hereditary keratitis keratitis, autosomal dominant keratitis, hereditary dominantly inherited keratitis |
|
| Definitions |
Hereditary keratitis is characterized by opacification and vascularisation of the cornea, often associated with macula hypoplasia. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0007848 |
|
| database_cross_reference |
Orphanet:2334 DOID:0111383 GARD:3089 SCTID:715339004 OMIM:148190 UMLS:C1835698 MESH:C537022 |
|
| definition |
Hereditary keratitis is characterized by opacification and vascularisation of the cornea, often associated with macula hypoplasia. |
|
| exactMatch |
http://identifiers.org/snomedct/715339004 http://identifiers.org/mesh/C537022 http://purl.obolibrary.org/obo/DOID_0111383 http://linkedlifedata.com/resource/umls/id/C1835698 |
|
| has material basis in germline mutation in | ||
| has_exact_synonym |
hereditary keratitis keratitis, autosomal dominant |
|
| has_related_synonym |
keratitis, hereditary dominantly inherited keratitis |
|
| id |
MONDO:0007848 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo#ordo_disease http://purl.obolibrary.org/obo/mondo#rare http://purl.obolibrary.org/obo/mondo#nord_rare http://purl.obolibrary.org/obo/mondo#orphanet_rare |
|
| label |
autosomal dominant keratitis |
|
| notation |
MONDO:0007848 |
|
| prefLabel |
autosomal dominant keratitis |
|
| treeView |
http://purl.obolibrary.org/obo/MONDO_0018102 |
|
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0018102 |