Disease: Tyrosinemia, Type Ii

Name Tyrosinemia, Type Ii

Synonyms KERATOSIS PALMOPLANTARIS WITH CORNEAL DYSTROPHY , OREGON TYPE TYROSINEMIA , RICHNER-HANHART SYNDROME , TAT DEFICIENCY , TYROSINE AMINOTRANSFERASE DEFICIENCY , TYROSINE TRANSAMINASE DEFICIENCY , TYROSINOSIS, OCULOCUTANEOUS TYPE

Classification eye, genetic, metabolism, skin

Phenotypes 4-Hydroxyphenylpyruvic aciduria; Abnormality of the skin; Autosomal recessive inheritance; Growth delay; Herpetiform corneal ulceration; Hypertyrosinemia; Intellectual disability

Associated Genes TAT

Mouse Orthologs Tat

Source OMIM:276600 (names, synonyms, disease associated genes),
Orphanet (disease classes),
HGNC, Ensembl, MGI (gene symbols, gene orthology)
HPO (phenotypes)

Mouse Model: phenotype-based associations

Disease phenotypes are compared with mouse phenotypes, with each mouse model contributing one point to the diagram. Scores are computed according to phenotype specificity and cross-species similarity. X-axis shows the score of the single phenotype that contributes most. Y-axis shows an average among all phenotype matches. The curved line designates a visualization threshold; models below threshold are omitted, except when their genotype matches a disease-associated gene.

Mouse Models

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