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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/222700
http://purl.bioontology.org/ontology/OMIM/222700
|
|---|---|
| Preferred Name | LYSINURIC PROTEIN INTOLERANCE |
| Synonyms |
DIBASIC AMINO ACIDURIA II
LPI
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
DIBASIC AMINO ACIDURIA II
LPI
|
|---|---|
| prefLabel | LYSINURIC PROTEIN INTOLERANCE
|
| Gene Symbol |
SLC7A7
LPI
|
| Scope Statement | Incidence in Japan is 1 in 57,000 [MISCELLANEOUS]
Caused by mutation in the solute carrier family 7 (cationic amino acid transporter, y+ system), member 7 gene (SLC7A7, 603593.0001) [MOLECULAR BASIS]
Patients look as if they have protein deficiency or malnutrition [MISCELLANEOUS]
Incidence in Finland is 1 in 76,000 births [MISCELLANEOUS]
Onset in infancy after weaning from being breast-fed [MISCELLANEOUS]
Highly variable phenotype [MISCELLANEOUS]
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| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 14q11.2
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 222700
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C0268647
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |