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Type II Mucolipidosis (CUI C0020725) Suggest changes to this concept
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Terms & Properties

Concept Unique Identifier (CUI): C0020725

NCI Thesaurus Code: C61270  (see NCI Thesaurus info)

Semantic Type: Disease or Syndrome

NCIt 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.

CSP Definition: rapidly progressing disease of young children, characterized histologically by abnormal fibroblasts containing a large number of dark inclusions which fill the central part of the cytoplasm except for the juxtanuclear zone (I cells), and clinically by severe growth impairment, minimal hepatomegaly, extreme mental and motor retardation, and clear corneas; inherited as an autosomal recessive trait, it is caused by failure of lysosomal enzymes to be incorporated into lysosomes.

Synonyms & Abbreviations: (see Synonym Details)
Deficiency of N-acetylglucosamine-1-phosphotransferase
GNPTA
I cell disease
I CELL DIS
I-cell - Inclusion cell disease
I-cell disease (disorder)
I-Cell Diseases
I-cell disease
ICD
Inclusion Cell Diseases
INCLUSION CELL DISEASE
INCLUSION CELL DIS
Inclusion-cell Disease
LEROY DISEASE
ML 2
ML disorder type 2
ML II
Mucolipidoses, Type II
Mucolipidosis 2
mucolipidosis II
Mucolipidosis type II
Mucolipidosis, Type II
N-acetylglucosamine 1-phosphotransferase deficiency
N-acetylglucosamine 1phosphotransferase deficiency
N-acetylglucosamine-1-phosphotransferase deficiency
Type II Mucolipidoses
Type II Mucolipidosis

External Source Codes: 
NCI Thesaurus Code C61270 (see NCI Thesaurus info)

Other Properties: Property Definitions
Name Value Source
ACTIVE 1 SNOMEDCT_US
CASE_SIGNIFICANCE_ID 900000000000017005 SNOMEDCT_US
CASE_SIGNIFICANCE_ID 900000000000020002 SNOMEDCT_US
Contributing_Source CTRP NCI
CTV3ID X40WA SNOMEDCT_US
DATE_CREATED 2013-01-09T00:04:00 GARD
DATE_CREATED 2015-01-22T00:04:00 GARD
DATE_LAST_MODIFIED 2013-01-09T00:04:00 GARD
DEFINITION_STATUS_ID 900000000000074008 SNOMEDCT_US
DID 1849-6277 CSP
DISEASE_IDENTIFIER_ID 33354 GARD
DISEASE_IDENTIFIER_ID 33355 GARD
DISEASE_IDENTIFIER_ID 33356 GARD
DISEASE_IDENTIFIER_ID 4004 GARD
DISEASE_IDENTIFIER_ID 4005 GARD
DISEASE_IDENTIFIER_ID 4006 GARD
DISEASE_IDENTIFIER_ID 4007 GARD
DISEASE_IDENTIFIER_ID 4008 GARD
DISEASE_IDENTIFIER_ID 4009 GARD
DISEASE_IDENTIFIER_ID 4010 GARD
DISEASE_IDENTIFIER_ID 4011 GARD
EFFECTIVE_TIME 20020131 SNOMEDCT_US
FR 2 MSH
HAS_GARD_PAGE true GARD
HM D009081 MSH
HPO_COMMENT N-acetylglucosamine-1-phosphotransferase catalyzes the initial step in the synthesis of the mannose 6-phosphate determinant required for efficient intracellular targeting of newly synthesized lysosomal hydrolases to the lysosome. HPO
IDENTIFIER_SOURCE Orp GARD
IDENTIFIER_TYPE_ID 1 GARD
IS_ACTIVE true GARD
IS_RARE true GARD
IS_SPANISH false GARD
MDA 20100825 MSH
PRIMARY_PATH 10072928$10024579$10027424$10010331$Mucolipidosis type II$Lysosomal storage disorders$Metabolic and nutritional disorders congenital$Congenital, familial and genetic disorders MDR
PRIMARY_SOC 10010331 MDR
PT_IN_VERSION 16.0 MDR
PT_IN_VERSION 16.1 MDR
PT_IN_VERSION 17.0 MDR
PT_IN_VERSION 17.1 MDR
PT_IN_VERSION 18.0 MDR
PT_IN_VERSION 18.1 MDR
PT_IN_VERSION 19.0 MDR
PT_IN_VERSION 19.1 MDR
PT_IN_VERSION 20.0 MDR
PT_IN_VERSION 20.1 MDR
RARE_DISEASE_URL http://rarediseases.info.nih.gov/gard/6749/i-cell-disease/resources/1 GARD
RN 0 MSH
SC 3 MSH
SMQ_TERM_ADDVERSION 16.0 MDR
SMQ_TERM_CAT A MDR
SMQ_TERM_LEVEL 4 MDR
SMQ_TERM_LMVERSION 16.0 MDR
SMQ_TERM_SCOPE 2 MDR
SMQ_TERM_STATUS A MDR
SMQ_TERM_WEIGHT 0 MDR
SUBSET_MEMBER 447562003~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPADVICE~ALWAYS E77.0 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPCATEGORYID~447637006 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPGROUP~1 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPPRIORITY~1 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPRULE~TRUE SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPTARGET~E77.0 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~ALWAYS E77.0 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPCATEGORYID~447637006 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPGROUP~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPPRIORITY~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~TRUE SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~E77.0 SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~X40WA SNOMEDCT_US
SUBSET_MEMBER 900000000000508004~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
SUBSET_MEMBER 900000000000508004~ACCEPTABILITYID~900000000000549004 SNOMEDCT_US
SUBSET_MEMBER 900000000000509007~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
SUBSET_MEMBER 900000000000509007~ACCEPTABILITYID~900000000000549004 SNOMEDCT_US
TERMUI T027137 MSH
TERMUI T369522 MSH
TERMUI T369523 MSH
TERMUI T369524 MSH
TERMUI T369538 MSH
TERMUI T746241 MSH
TH GHR (2014) MSH
TH NLM (2000) MSH
TH OMIM (2013) MSH
TH ORD (2010) MSH
TH UNK (19XX) MSH
TYPE_ID 900000000000003001 SNOMEDCT_US
TYPE_ID 900000000000013009 SNOMEDCT_US

Additional Concept Data:  (none)

URL to Bookmark: https://ncim-stage.nci.nih.gov/ncimbrowser/ConceptReport.jsp?dictionary=NCI Metathesaurus&code=C0020725

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