Niemann-Pick disease type C2 - Ontology Browser

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Niemann-Pick disease type C2 (DOID:0070114)
Annotations: Rat: (3) Mouse: (3) Human: (3) Chinchilla: (3) Bonobo: (3) Dog: (3) Squirrel: (3) Pig: (3) Naked Mole-rat: (3) Green Monkey: (3)

Parent Terms

Term With Siblings

Child Terms

Niemann-Pick disease type A +

Niemann-Pick disease type B +

Niemann-Pick disease type C1

Niemann-Pick disease type C2

A Niemann-Pick disease that has_material_basis_in an autosomal recessive mutation of the NPC2 gene on chromosome 14q24.3. (DO)

Niemann-Pick Disease Type D

Synonyms
Exact Synonyms:	NPC2 ; NPC2-RELATED CONDITION ; Niemann-Pick disease C2
Primary IDs:	MESH:C536119
Alternate IDs:	OMIM:607625
Xrefs:	GARD:3992 ; NCI:C126865
Definition Sources:	https://www.ncbi.nlm.nih.gov/pubmed/17470133 "DO" "DO"

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