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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/609241
http://purl.bioontology.org/ontology/OMIM/609241
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|---|---|
| Preferred Name | SCHINDLER DISEASE, TYPE I |
| Synonyms |
ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY, TYPE I
NEUROAXONAL DYSTROPHY, SCHINDLER TYPE
NAGA DEFICIENCY, TYPE I
SCHINDLER DISEASE, TYPE III
NAGA DEFICIENCY, TYPE III
ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY, TYPE III
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY, TYPE I
NEUROAXONAL DYSTROPHY, SCHINDLER TYPE
NAGA DEFICIENCY, TYPE I
SCHINDLER DISEASE, TYPE III
NAGA DEFICIENCY, TYPE III
ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY, TYPE III
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|---|---|
| prefLabel | SCHINDLER DISEASE, TYPE I
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| Gene Symbol | NAGA
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| Scope Statement | Type II is adult-onset (Kanzaki disease, 609242) [MISCELLANEOUS]
Caused by mutation in the alpha-N-acetylgalactosaminidase gene (NAGA, 104170.0001) [MOLECULAR BASIS]
Three main phenotypes [MISCELLANEOUS]
Type III is intermediate form [MISCELLANEOUS]
Type I onset at 8 to 15 months of age after normal development [MISCELLANEOUS]
Type I has most severe manifestations by age 4-5 years [MISCELLANEOUS]
Type I is infantile-onset, severe [MISCELLANEOUS]
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| type | |
| Has manifestation |
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| tui | T047
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| Gene Locus | 22q11
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| notation | 609241
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui |
C1836544
C5437471
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| OMIM Entry Type | 3
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| OMIM MimType Value | pound
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| Delete | Subject | Author | Type | Created |
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| No notes to display |