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Term ID: | 6473 |
Name: | Lipodystrophy with Congenital Cataracts and Neurodegeneration |
Definition: | |
Alternative IDs: | |
ParentIDs: | MESH:D002386|MESH:D020271|MESH:D052496 |
TreeNumbers: | C10.574.500/C564669 |C11.510.245/C564669 |C16.320.400/C564669 |C17.800.849.391.700/C564669 |C18.452.584.625.700/C564669 |C18.452.880.391.700/C564669 |
Synonyms: | |
Slim Mappings: | Eye disease|Genetic disease (inborn)|Metabolic disease|Nervous system disease|Skin disease |
Reference: |
MedGen: C564669
MeSH: C564669
OMIM: 606721;
Genes: CAV1; | Phenotypes | | Disease Causing ClinVar Variants | |
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