loading...| Preferred Name |
mucolipidosis type II |
|
| Synonyms |
mucolipidosis II I Cell Disease N-acetylglucosamine 1-phosphotransferase deficiency I-cell disease mucolipidosis type II alpha/beta mucolipidosis type II inclusion cell disease N-acetylglucosamine 1phosphotransferase deficiency ML 2 Alpha/Beta I cell disease Leroy disease mucolipidosis 2 mucolipidosis II alpha/beta ML disorder type 2 mucolipidosis 2 alpha/beta GNPTA ML 2 |
|
| Definitions |
Mucolipidosis II (MLII) is a slowly progressive lysosomal disorder characterized by growth retardation, skeletal abnormalities, facial dysmorphism, stiff skin, developmental delay and cardiomegaly. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0009650 |
|
| database_cross_reference |
Orphanet:576 UMLS:C2673377 NANDO:2200567 MESH:C538602 SCTID:70199000 NANDO:1200124 NCIT:C61270 OMIM:252500 DOID:0080070 GARD:6749 NORD:1279 |
|
| definition |
Mucolipidosis II (MLII) is a slowly progressive lysosomal disorder characterized by growth retardation, skeletal abnormalities, facial dysmorphism, stiff skin, developmental delay and cardiomegaly. |
|
| exactMatch |
http://purl.obolibrary.org/obo/NCIT_C61270 http://purl.obolibrary.org/obo/DOID_0080070 http://identifiers.org/snomedct/70199000 http://linkedlifedata.com/resource/umls/id/C2673377 |
|
| has_exact_synonym |
mucolipidosis II I Cell Disease N-acetylglucosamine 1-phosphotransferase deficiency I-cell disease mucolipidosis type II alpha/beta mucolipidosis type II |
|
| has_related_synonym |
inclusion cell disease N-acetylglucosamine 1phosphotransferase deficiency ML 2 Alpha/Beta I cell disease Leroy disease mucolipidosis 2 mucolipidosis II alpha/beta ML disorder type 2 mucolipidosis 2 alpha/beta GNPTA ML 2 |
|
| IAO_0000233 | ||
| id |
MONDO:0009650 |
|
| 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#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_disease |
|
| label |
mucolipidosis type II |
|
| notation |
MONDO:0009650 |
|
| prefLabel |
mucolipidosis type II |
|
| subClassOf |