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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/221820
http://purl.bioontology.org/ontology/OMIM/221820
|
|---|---|
| Preferred Name | LEUKOENCEPHALOPATHY, HEREDITARY DIFFUSE, WITH SPHEROIDS 1 |
| Synonyms |
ALSP
GLIOSIS, FAMILIAL PROGRESSIVE SUBCORTICAL
HDLS1
GPSC
DEMENTIA, FAMILIAL, NEUMANN TYPE
LEUKOENCEPHALOPATHY, ADULT-ONSET, WITH AXONAL SPHEROIDS AND PIGMENTED GLIA
SUBCORTICAL GLIOSIS OF NEUMANN
LEUKOENCEPHALOPATHY WITH NEUROAXONAL SPHEROIDS, AUTOSOMAL DOMINANT
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
ALSP
GLIOSIS, FAMILIAL PROGRESSIVE SUBCORTICAL
HDLS1
GPSC
DEMENTIA, FAMILIAL, NEUMANN TYPE
LEUKOENCEPHALOPATHY, ADULT-ONSET, WITH AXONAL SPHEROIDS AND PIGMENTED GLIA
SUBCORTICAL GLIOSIS OF NEUMANN
LEUKOENCEPHALOPATHY WITH NEUROAXONAL SPHEROIDS, AUTOSOMAL DOMINANT
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|---|---|
| prefLabel | LEUKOENCEPHALOPATHY, HEREDITARY DIFFUSE, WITH SPHEROIDS 1
|
| Gene Symbol |
BANDDOS
FMS
HDLS1
CSF1R
|
| Scope Statement | Rapidly progressive [MISCELLANEOUS]
Death within 6 years after onset [MISCELLANEOUS]
Caused by mutation in the colony-stimulating factor 1 receptor gene (CSF1R, 164770.0001) [MOLECULAR BASIS]
Adult onset [MISCELLANEOUS]
Variable presentation and evolution of symptoms [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 5q32
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 221820
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui |
C5561929
C3711381
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |