loading...| Preferred Name |
mucolipidosis |
|
| Synonyms |
|
|
| Definitions |
A group of inherited lysosomal storage diseases characterized by accumulation of lipids and carbohydrates in the tissues, resulting in mental disabilities and skeletal malformations. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0019248 |
|
| database_cross_reference |
icd11.foundation:714623911 MESH:D009081 SCTID:70528007 Orphanet:79212 NCIT:C61267 DOID:0080488 UMLS:C0026697 GARD:18975 |
|
| definition |
A group of inherited lysosomal storage diseases characterized by accumulation of lipids and carbohydrates in the tissues, resulting in mental disabilities and skeletal malformations. |
|
| exactMatch |
http://identifiers.org/mesh/D009081 http://identifiers.org/snomedct/70528007 http://purl.obolibrary.org/obo/DOID_0080488 http://purl.obolibrary.org/obo/NCIT_C61267 |
|
| id |
MONDO:0019248 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare 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#ordo_group_of_disorders http://purl.obolibrary.org/obo/mondo/mondo-base#disease_grouping |
|
| label |
mucolipidosis |
|
| notation |
MONDO:0019248 |
|
| prefLabel |
mucolipidosis |
|
| subClassOf |