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loading...| Preferred Name |
mucolipidosis III alpha/beta |
|
| Synonyms |
pseudo-Hurler polydystrophy |
|
| Definitions |
A mucolipidosis that has_material_basis_in mutation in the gene encoding the alpha/beta-subunits precursor gene of GLcNAc-phosphotransferase. |
|
| ID |
http://purl.obolibrary.org/obo/DOID_0080071 |
|
| created_by |
lschriml |
|
| creation_date |
2015-10-08T17:58:48Z |
|
| database_cross_reference |
MIM:252600 ORDO:577 |
|
| definition |
A mucolipidosis that has_material_basis_in mutation in the gene encoding the alpha/beta-subunits precursor gene of GLcNAc-phosphotransferase. |
|
| has exact synonym |
pseudo-Hurler polydystrophy mucolipidosis III |
|
| has material basis in | ||
| has_obo_namespace |
disease_ontology |
|
| id |
DOID:0080071 |
|
| in_subset | ||
| label |
mucolipidosis III alpha/beta |
|
| notation |
DOID:0080071 |
|
| prefLabel |
mucolipidosis III alpha/beta |
|
| subClassOf |
Create mapping
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.obolibrary.org/obo/DOID_0080071 | GAMUTS | SAME_URI | |
| http://purl.obolibrary.org/obo/DOID_0080071 | HHEAR | SAME_URI | |
| http://purl.obolibrary.org/obo/DOID_0080071 | NIFSTD | SAME_URI | |
| http://purl.obolibrary.org/obo/DOID_0080071 | FNS-H | SAME_URI | |
| http://purl.obolibrary.org/obo/DOID_0080071 | HHEAR | LOOM | |
| http://purl.obolibrary.org/obo/DOID_0080071 | NIFSTD | LOOM | |
| http://purl.obolibrary.org/obo/DOID_0080071 | FNS-H | LOOM | |
| http://purl.bioontology.org/ontology/OMIM/252600 | OMIM | LOOM |