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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/142461
http://purl.bioontology.org/ontology/OMIM/142461
|
|---|---|
| Preferred Name | HEPARAN SULFATE PROTEOGLYCAN OF BASEMENT MEMBRANE |
| Synonyms |
DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE
HSPG2
PLC
SCHWARTZ-JAMPEL SYNDROME, TYPE 1
PERLECAN
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE
HSPG2
PLC
SCHWARTZ-JAMPEL SYNDROME, TYPE 1
PERLECAN
|
|---|---|
| prefLabel |
HEPARAN SULFATE PROTEOGLYCAN OF BASEMENT MEMBRANE
|
| Gene Symbol |
SJS1
PLC
SJA
SJS
HSPG2
|
| notation |
142461
|
| Has allelic variant |
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|
| OMIM MimType Value |
star
|
| Semantic type UMLS property | |
| OMIM Entry Type |
1
|
| type | |
| MIMTYPEMEANING |
Gene with known sequence
|
| Gene Locus |
1p36.1
|
| Phenotype of |
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|
| tui |
T047
T028
|
| cui |
C1415793
C1857100
C4551479
|
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