Biological and Environmental Research Ontology

Last uploaded: December 23, 2022
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Preferred Name

I-Cell Disease
Synonyms
Definitions

An inherited lysosomal storage disease characterized by the presence of dense intracytoplasmic inclusions in mesenchymal cells, especially fibroblasts. Signs and symptoms include developmental delay, psychomotor deterioration, and growth failure.
ID

http://purl.obolibrary.org/obo/NCIT_C61270
code

C61270
Contributing_Source

Cellosaurus

CTRP
definition

An inherited lysosomal storage disease characterized by the presence of dense intracytoplasmic inclusions in mesenchymal cells, especially fibroblasts. Signs and symptoms include developmental delay, psychomotor deterioration, and growth failure.
Display_Name

I-Cell Disease
in_subset

http://purl.obolibrary.org/obo/NCIT_C116977

http://purl.obolibrary.org/obo/NCIT_C165258

http://purl.obolibrary.org/obo/NCIT_C118168
label

I-Cell Disease
Legacy Concept Name

I-Cell_Disease
Preferred_Name

I-Cell Disease
prefixIRI

NCIT:C61270
prefLabel

I-Cell Disease
Semantic_Type

Disease or Syndrome
UMLS_CUI

C0020725
subClassOf

http://purl.obolibrary.org/obo/NCIT_C61267
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