WormBase Tree Display for DO_term: DOID:0070114
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DOID:0070114 | Name | Niemann-Pick disease type C2 | |||
---|---|---|---|---|---|
Status | Valid | ||||
Definition | A Niemann-Pick disease that has_material_basis_in an autosomal recessive mutation of the NPC2 gene on chromosome 14q24.3. | ||||
Synonym | Exact | NPC2 | |||
Parent | Is_a | DOID:14504 | |||
DB_info | Database | OMIM | disease | 607625 | |
Attribute_of | Gene_by_orthology | WBGene00006452 |