loading...| Preferred Name |
STRIATONIGRAL DEGENERATION, INFANTILE |
| Synonyms |
IBSN |
| ID |
http://purl.bioontology.org/ontology/OMIM/271930 |
| altLabel |
IBSN SNDI STRIATAL DEGENERATION, FAMILIAL BILATERAL STRIATAL NECROSIS, INFANTILE INFANTILE BILATERAL STRIATAL NECROSIS |
| cui |
C0795996 |
| Gene Locus |
19q13.33 |
| Gene Symbol |
SNDI IBSN NUP62 |
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU036360 http://purl.bioontology.org/ontology/OMIM/MTHU036384 http://purl.bioontology.org/ontology/OMIM/MTHU036443 http://purl.bioontology.org/ontology/OMIM/MTHU009226 http://purl.bioontology.org/ontology/OMIM/MTHU009230 http://purl.bioontology.org/ontology/OMIM/MTHU009228 http://purl.bioontology.org/ontology/OMIM/MTHU000081 http://purl.bioontology.org/ontology/OMIM/MTHU001319 http://purl.bioontology.org/ontology/OMIM/MTHU000133 http://purl.bioontology.org/ontology/OMIM/MTHU009229 |
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
| notation |
271930 |
| OMIM Entry Type |
3 |
| OMIM MimType Value |
pound |
| prefLabel |
STRIATONIGRAL DEGENERATION, INFANTILE |
| Scope Statement |
Caused by mutation in the 62-kd nucleoporin gene (NUP62, 605815.0001) [MOLECULAR BASIS] Genetic heterogeneity, see mitochondrial inheritance of the disorder (500003) [MISCELLANEOUS] Onset 7 to 15 months of age [MISCELLANEOUS] |
| tui |
T047 |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.bioontology.org/ontology/MESH/C537500 | Medical Subject Headings / 医学主题词表 | CUI | |
| http://purl.bioontology.org/ontology/MESH/C537500 | Medical Subject Headings / 医学主题词表 | LOOM |