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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/601803
http://purl.bioontology.org/ontology/OMIM/601803
|
|---|---|
| Preferred Name | PALLISTER-KILLIAN SYNDROME |
| Synonyms |
TETRASOMY 12p, MOSAIC
PKS
HEXASOMY 12p, MOSAIC
ISOCHROMOSOME 12p SYNDROME
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
TETRASOMY 12p, MOSAIC
PKS
HEXASOMY 12p, MOSAIC
ISOCHROMOSOME 12p SYNDROME
|
|---|---|
| prefLabel | PALLISTER-KILLIAN SYNDROME
|
| Gene Symbol | PKS
|
| notation | 601803
|
| Scope Statement | Birth incidence approximately 5.1 per million live births [MISCELLANEOUS]
Contiguous gene syndrome caused by mosaicism for tetrasomy of chromosome 12p [MOLECULAR BASIS]
Significant number of patients are stillborn or die in neonatal period [MISCELLANEOUS]
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| OMIM MimType Value | pound
|
| Has inheritance type | |
| Semantic type UMLS property | |
| OMIM Entry Type | 3
|
| type | |
| Has manifestation |
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| Gene Locus | 12p
|
| tui | T047
|
| cui |
C0265449
C2748628
|
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