Preferred Name |
TYROSINEMIA, TYPE II |
|
Synonyms |
KERATOSIS PALMOPLANTARIS WITH CORNEAL DYSTROPHY |
|
ID |
http://purl.bioontology.org/ontology/OMIM/276600 |
|
altLabel |
KERATOSIS PALMOPLANTARIS WITH CORNEAL DYSTROPHY RICHNER-HANHART SYNDROME TYROSINE TRANSAMINASE DEFICIENCY OREGON TYPE TYROSINEMIA TYROSINE AMINOTRANSFERASE DEFICIENCY TAT DEFICIENCY TYRSN2 TYROSINOSIS, OCULOCUTANEOUS TYPE |
|
cui |
C0268487 |
|
Gene Locus |
16q22.1-q22.3 |
|
Gene Symbol |
TAT |
|
MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
notation |
276600 |
|
OMIM Entry Type |
3 |
|
OMIM MimType Value |
pound |
|
prefLabel |
TYROSINEMIA, TYPE II |
|
tui |
T047 |
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