Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024
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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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/SNOMEDCT/124287008 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MEDDRA/10069463 MEDDRA CUI
http://purl.bioontology.org/ontology/LNC/LA12529-6 LOINC CUI
http://purl.bioontology.org/ontology/LNC/LA21171-6 LOINC CUI
http://purl.bioontology.org/ontology/MDRGER/10069460 MDRGER CUI
http://purl.bioontology.org/ontology/MDRFRE/10069460 MDRFRE CUI
http://purl.bioontology.org/ontology/MSHFRE/D020176 MSHFRE CUI
http://purl.bioontology.org/ontology/MESH/D020176 MESH CUI
http://purl.bioontology.org/ontology/SCTSPA/4887000 SCTSPA CUI
http://purl.bioontology.org/ontology/MDRFRE/10069463 MDRFRE CUI
http://purl.bioontology.org/ontology/MEDDRA/10069460 MEDDRA CUI
http://purl.bioontology.org/ontology/SNMI/D6-A2140 SNMI CUI
http://purl.bioontology.org/ontology/MDRGER/10069463 MDRGER CUI
http://purl.bioontology.org/ontology/SNOMEDCT/4887000 SNOMEDCT CUI
http://purl.bioontology.org/ontology/RCD/X40Rm RCD CUI
http://purl.bioontology.org/ontology/SCTSPA/124287008 SCTSPA CUI
http://purl.obolibrary.org/obo/MONDO_0010160 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0010160 EFO LOOM
http://www.owl-ontologies.com/unnamed.owl#RID15096 DERMLEX LOOM
http://purl.bioontology.org/ontology/MEDDRA/10069463 MEDDRA LOOM
http://purl.bioontology.org/ontology/LNC/LA12529-6 LOINC LOOM
http://purl.bioontology.org/ontology/LNC/LA21171-6 LOINC LOOM
http://purl.obolibrary.org/obo/MONDO_0010160 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0010160 DOVES LOOM
http://purl.obolibrary.org/obo/NCIT_C129032 BERO LOOM
http://id.nlm.nih.gov/mesh/D020176 MDM LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C129032 NCIT LOOM
http://purl.obolibrary.org/obo/DOID_0050725 DTO LOOM
http://purl.obolibrary.org/obo/DOID_0050725 DOID LOOM
http://purl.obolibrary.org/obo/DOID_0050725 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_0050725 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_0050725 FNS-H LOOM