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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/264800
http://purl.bioontology.org/ontology/OMIM/264800
|
|---|---|
| Preferred Name | PSEUDOXANTHOMA ELASTICUM |
| Synonyms |
PXE, MODIFIER OF SEVERITY OF
PSEUDOXANTHOMA ELASTICUM, MODIFIER OF SEVERITY OF
GRONBLAD-STRANDBERG SYNDROME
PXE
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
PXE, MODIFIER OF SEVERITY OF
PSEUDOXANTHOMA ELASTICUM, MODIFIER OF SEVERITY OF
GRONBLAD-STRANDBERG SYNDROME
PXE
|
|---|---|
| prefLabel | PSEUDOXANTHOMA ELASTICUM
|
| Gene Symbol |
XT2
XYLT2
SOS
|
| Scope Statement | Sex ratio - 2 females to 1 male [MISCELLANEOUS]
Caused by mutations in the ATP-binding cassette, subfamily C, member 6 gene (ABCC6, 603234.0001) [MOLECULAR BASIS]
See 177850 for description of heterozygous phenotype [MISCELLANEOUS]
Incidence - 1 in 25,000-100,000 [MISCELLANEOUS]
Majority of cases diagnosed at age 10-15 years [MISCELLANEOUS]
|
| type | |
| Has manifestation |
See more
See less
|
| tui |
T047
T033
|
| Gene Locus | 17q21.3-q22
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 264800
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui |
C0376359
C3279392
C0033847
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |