loading...| Preferred Name |
mucolipidosis type IV |
|
| Synonyms |
mucolipidosis type IV mucolipidosis type 4 Mucolipidosis IV ML IV MLIV ganglioside neuraminidase deficiency Berman syndrome sialolipidosis mucolipidosis IV ganglioside sialidase deficiency mucolipidosis 4 ML 4 ML4 |
|
| Definitions |
A lysosomal storage disease characterized clinically by psychomotor retardation and visual abnormalities including corneal clouding, retinal degeneration, or strabismus. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0009653 |
|
| database_cross_reference |
GTR:AN1124590 UMLS:C0238286 GTR:AN1148743 GTR:AN1125033 GTR:AN1125032 SCTID:111384001 NCIT:C84896 OMIM:252650 DOID:0080490 Orphanet:578 GARD:94 NORD:1460 |
|
| definition |
A lysosomal storage disease characterized clinically by psychomotor retardation and visual abnormalities including corneal clouding, retinal degeneration, or strabismus. |
|
| exactMatch |
http://purl.obolibrary.org/obo/DOID_0080490 http://purl.obolibrary.org/obo/NCIT_C84896 http://linkedlifedata.com/resource/umls/id/C0238286 |
|
| has_exact_synonym |
mucolipidosis type IV mucolipidosis type 4 Mucolipidosis IV ML IV MLIV |
|
| has_related_synonym |
ganglioside neuraminidase deficiency Berman syndrome sialolipidosis mucolipidosis IV ganglioside sialidase deficiency mucolipidosis 4 ML 4 ML4 |
|
| id |
MONDO:0009653 |
|
| 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 IV |
|
| notation |
MONDO:0009653 |
|
| prefLabel |
mucolipidosis type IV |
|
| subClassOf |