loading...| Preferred Name |
CEROID LIPOFUSCINOSIS, NEURONAL, 6 |
| Synonyms |
CEROID LIPOFUSCINOSIS, NEURONAL, 6, VARIABLE AGE AT ONSET |
| ID |
http://purl.bioontology.org/ontology/OMIM/601780 |
| altLabel |
CEROID LIPOFUSCINOSIS, NEURONAL, 6, VARIABLE AGE AT ONSET NEURONAL CEROID LIPOFUSCINOSIS, LATE INFANTILE, VARIANT vLINCL CLN6 |
| cui |
C1866282 |
| Gene Locus |
15q21-q23 |
| Gene Symbol |
CLN4A CLN6 |
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU005809 http://purl.bioontology.org/ontology/OMIM/MTHU003010 http://purl.bioontology.org/ontology/OMIM/MTHU033260 http://purl.bioontology.org/ontology/OMIM/MTHU005805 http://purl.bioontology.org/ontology/OMIM/MTHU005808 http://purl.bioontology.org/ontology/OMIM/MTHU005806 http://purl.bioontology.org/ontology/OMIM/MTHU000242 http://purl.bioontology.org/ontology/OMIM/MTHU005811 http://purl.bioontology.org/ontology/OMIM/MTHU000310 http://purl.bioontology.org/ontology/OMIM/MTHU004856 |
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
| notation |
601780 |
| OMIM Entry Type |
3 |
| OMIM MimType Value |
pound |
| prefLabel |
CEROID LIPOFUSCINOSIS, NEURONAL, 6 |
| tui |
T047 |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.bioontology.org/ontology/MESH/C566627 | Medical Subject Headings | CUI | |
| http://purl.bioontology.org/ontology/MESH/C566627 | Medical Subject Headings | LOOM |