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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/616809
http://purl.bioontology.org/ontology/OMIM/616809
|
|---|---|
| Preferred Name | HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 6 |
| Synonyms |
GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 12
HPMRS6
GPIBD12
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 12
HPMRS6
GPIBD12
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6
|
|---|---|
| prefLabel | HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 6
|
| Gene Symbol |
HPMRS6
PIGY
|
| Scope Statement | Family A (Australian family) had a severe multisystem disorder resulting in death before age 2 years [MISCELLANEOUS]
Caused by mutation in the phosphatidylinositol glycan, class Y gene (PIGY, 610662.0001) [MOLECULAR BASIS]
Two unrelated families have been reported (last curated February 2016) [MISCELLANEOUS]
Family B (Pakistani family) had a milder phenotype [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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| tui | T047
|
| Gene Locus | 4q22.1
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 616809
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C4225201
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |