loading...| Preferred Name | galactokinase deficiency | |
| Synonyms |
Galk deficiency hereditary galactokinase deficiency galactosemia 2 galactosemia II galactokinase deficiency GALK deficiency galactokinase deficiency galactosemia galactokinase deficiency with cataracts galactosemia type 2 GALK-D |
|
| 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 |
|
| curated_content_resource |
https://search.clinicalgenome.org/kb/conditions/MONDO:0009255 |
|
| database_cross_reference |
NANDO:2200533 Orphanet:79237 UMLS:C0268155 SCTID:124302001 MEDGEN:120614 NCIT:C114767 icd11.foundation:1173858031 OMIM:230200 DOID:14695 GARD:2422 |
|
| 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. |
|
| has_exact_synonym |
galactosemia II galactokinase deficiency GALK deficiency galactokinase deficiency galactosemia galactokinase deficiency with cataracts galactosemia type 2 GALK-D |
|
| has_related_synonym |
Galk deficiency hereditary galactokinase deficiency galactosemia 2 |
|
| IAO_0000233 | ||
| id |
MONDO:0009255 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#clingen http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_disorder |
|
| label |
galactokinase deficiency |
|
| notation |
MONDO:0009255 |
|
| preferred label |
galactokinase deficiency |
|
| prefLabel |
galactokinase deficiency |
|
| see also |
https://rarediseases.info.nih.gov/diseases/2422/galactokinase-deficiency |
|
| skos_exactMatch |
http://purl.obolibrary.org/obo/NCIT_C114767 http://purl.obolibrary.org/obo/Orphanet_79237 http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/1173858031 http://identifiers.org/snomedct/124302001 http://purl.obolibrary.org/obo/DOID_14695 |
|
| subClassOf |