Niemann-Pick disease, type C2 - CISMeF

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CISMeF

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Niemann-Pick disease, type C2MeSH Supplementary Concept

Preferred Label : Niemann-Pick disease, type C2;

Details

Origin ID

C536119;

UMLS CUI

C1843366;

Currated CISMeF NLP mapping
- NPC intracellular cholesterol transporter 2 [ORDO Gene]
- Niemann Pick disease type C2 [Disease (Nov.)]
- Niemann-Pick Disease, Type C2 [NCIt concept]
- Niemann-Pick disease type C2 [DO Concept]
- Niemann-pick disease, type c2 [OMIM Phenotype]
Has phenotype(s) (HPO)
- Early death [HPO term]
- Foam cells contain polymorphic cytoplasmic inclusions consisting of lamellar osmiophilic membranes on electron microscopy [HPO term]
- Highly variable phenotype and age of onset [HPO term]
- Neonatal jaundice [HPO term]
- Perseverative behavior [HPO term]
- Poor school performance [HPO term]
MeSH term(s) associated for indexing
- Niemann-Pick disease, type C [MeSH Descriptor]
Record concept(s)
- Niemann-Pick disease, type C2 [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- NPC intracellular cholesterol transporter 2 [ORDO Gene]
- Niemann Pick disease type C2 [Disease (Nov.)]
- Niemann-Pick Disease, Type C2 [NCIt concept]
- Niemann-Pick disease type C2 [DO Concept]
- Niemann-pick disease, type c2 [OMIM Phenotype]

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02/05/2025

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