loading...| Preferred Name |
galactokinase deficiency |
|
| Synonyms |
galactokinase deficiency galactosemia galactosemia type 2 galactosemia II GALK-D galactokinase deficiency GALK deficiency Galk deficiency galactosemia 2 hereditary galactokinase deficiency |
|
| Definitions |
Galactokinase deficiency is a rare mild form of galactosemia characterized by early onset of cataract and an absence of the usual signs of classic galactosemia, i.e. feeding difficulties, poor weight gain and growth, lethargy, and jaundice. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0009255 |
|
| closeMatch | ||
| database_cross_reference |
Orphanet:79237 ICD10:E74.2 UMLS:C0268155 OMIM:230200 DOID:14695 ICD10:E74.29 NCIT:C114767 GARD:0002422 SCTID:124302001 |
|
| disease has basis in dysfunction of | ||
| exactMatch |
http://identifiers.org/mesh/C535999 http://purl.obolibrary.org/obo/NCIT_C114767 http://www.orpha.net/ORDO/Orphanet_79237 http://linkedlifedata.com/resource/umls/id/C0751158 http://identifiers.org/snomedct/124302001 http://purl.obolibrary.org/obo/DOID_14695 |
|
| has exact synonym |
galactokinase deficiency galactosemia galactosemia type 2 galactosemia II GALK-D galactokinase deficiency GALK deficiency |
|
| has related synonym |
Galk deficiency galactosemia 2 hereditary galactokinase deficiency |
|
| id |
MONDO:0009255 |
|
| imported from | ||
| in_subset | ||
| label |
galactokinase deficiency |
|
| notation |
MONDO:0009255 |
|
| prefLabel |
galactokinase deficiency |
|
| see also |
https://rarediseases.info.nih.gov/diseases/2422/galactokinase-deficiency |
|
| textual definition |
Galactokinase deficiency is a rare mild form of galactosemia characterized by early onset of cataract and an absence of the usual signs of classic galactosemia, i.e. feeding difficulties, poor weight gain and growth, lethargy, and jaundice. |
|
| subClassOf |