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Preferred Name

UROPORPHYRINOGEN III SYNTHASE
Synonyms

UROIIIS
ID

http://purl.bioontology.org/ontology/OMIM/606938
altLabel

UROIIIS

PORPHYRIA, CONGENITAL ERYTHROPOIETIC

UROS
cui

C0162530

C1421375
Gene Locus

10q25.2-q26.3
Gene Symbol

UROS
Has allelic variant

http://purl.bioontology.org/ontology/OMIM/606938.0013

http://purl.bioontology.org/ontology/OMIM/606938.0001

http://purl.bioontology.org/ontology/OMIM/606938.0005

http://purl.bioontology.org/ontology/OMIM/606938.0019

http://purl.bioontology.org/ontology/OMIM/606938.0018

http://purl.bioontology.org/ontology/OMIM/606938.0006

http://purl.bioontology.org/ontology/OMIM/606938.0007

http://purl.bioontology.org/ontology/OMIM/606938.0010

http://purl.bioontology.org/ontology/OMIM/606938.0011

http://purl.bioontology.org/ontology/OMIM/606938.0015

http://purl.bioontology.org/ontology/OMIM/606938.0016

http://purl.bioontology.org/ontology/OMIM/606938.0002

http://purl.bioontology.org/ontology/OMIM/606938.0004

http://purl.bioontology.org/ontology/OMIM/606938.0003

http://purl.bioontology.org/ontology/OMIM/606938.0017

http://purl.bioontology.org/ontology/OMIM/606938.0008

http://purl.bioontology.org/ontology/OMIM/606938.0009

http://purl.bioontology.org/ontology/OMIM/606938.0020

http://purl.bioontology.org/ontology/OMIM/606938.0021

http://purl.bioontology.org/ontology/OMIM/606938.0012

http://purl.bioontology.org/ontology/OMIM/606938.0014
MIMTYPEMEANING

Gene with known sequence
notation

606938
OMIM Entry Type

1
OMIM MimType Value

star
prefLabel

UROPORPHYRINOGEN III SYNTHASE
tui

T028

T047
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Delete Mapping To Ontology Source
http://www.orpha.net/ORDO/Orphanet_120431 Orphanet Rare Disease Ontology / Orphanet罕见病本体 LOOM
http://purl.bioontology.org/ontology/LNC/LP15044-8 Logical Observation Identifier Names and Codes / 逻辑观察标识符名称和代码 LOOM
http://purl.bioontology.org/ontology/LNC/MTHU002363 Logical Observation Identifier Names and Codes / 逻辑观察标识符名称和代码 LOOM
http://purl.bioontology.org/ontology/ICD10/E80.0 International Classification of Diseases, Version 10 / 《国际疾病分类》第10版 CUI
http://purl.bmicc.cn/ontology/ICD10CN/E80.0 《国际疾病分类》第10版中文版 / International Classification of Diseases, 10th Edition, China CUI
http://purl.bioontology.org/ontology/ICD10CM/E80.0 International Classification of Diseases, Version 10 - Clinical Modification / 国际疾病分类，第10版-临床修改 CUI
http://purl.obolibrary.org/obo/PR_000017135 Protein Ontology / 蛋白质本体 LOOM
http://purl.obolibrary.org/obo/PR_000017135 Experimental Factor Ontology / 实验性因素本体 LOOM
http://purl.bioontology.org/ontology/MESH/D017092 Medical Subject Headings / 医学主题词表 CUI