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Online Mendelian Inheritance in Man
Last uploaded:
January 16, 2025
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Id | http://purl.bioontology.org/ontology/OMIM/256730
http://purl.bioontology.org/ontology/OMIM/256730
|
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Preferred Name | CEROID LIPOFUSCINOSIS, NEURONAL, 1 |
Synonyms |
SANTAVUORI-HALTIA DISEASE
CLN1
INCL
CEROID LIPOFUSCINOSIS, NEURONAL, 1, VARIABLE AGE AT ONSET
NEURONAL CEROID LIPOFUSCINOSIS, INFANTILE
SANTAVUORI DISEASE
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Type | http://www.w3.org/2002/07/owl#Class |
All Properties
altLabel |
SANTAVUORI-HALTIA DISEASE
CLN1
INCL
CEROID LIPOFUSCINOSIS, NEURONAL, 1, VARIABLE AGE AT ONSET
NEURONAL CEROID LIPOFUSCINOSIS, INFANTILE
SANTAVUORI DISEASE
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prefLabel | CEROID LIPOFUSCINOSIS, NEURONAL, 1
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Gene Symbol |
PPT1
CLN1
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notation | 256730
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Scope Statement | Infantile, late-infantile, juvenile, and adult onset have been reported [MISCELLANEOUS]
Caused by mutation in the palmitoyl-protein thioesterase 1 gene (PPT1, 600722.0001) [MOLECULAR BASIS]
Common in populations of Finnish descent (incidence of 1:20 000, carrier frequency of 1 in 70) [MISCELLANEOUS]
Variable severity, correlates with age at onset [MISCELLANEOUS]
Patients with adult onset present with psychiatric features [MISCELLANEOUS]
Variable age at onset [MISCELLANEOUS]
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OMIM MimType Value | pound
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Has inheritance type | |
Semantic type UMLS property | |
OMIM Entry Type | 3
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Moved from |
600680
214200
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type | |
Has manifestation |
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MIMTYPEMEANING | Phenotype description, molecular basis known.
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Gene Locus | 1p32
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tui | T047
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cui |
C0268281
C1850451
C2931673
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