Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024
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Preferred Name

HYDROXYMETHYLBILANE SYNTHASE
Synonyms

PORPHYRIA, ACUTE INTERMITTENT

HMBS

PRE-UROPORPHYRINOGEN SYNTHASE

UROPORPHYRINOGEN I SYNTHASE

UROPORPHYRINOGEN I SYNTHETASE

PORPHYRIA, ACUTE INTERMITTENT, NONERYTHROID VARIANT

PBGD

PORPHOBILINOGEN DEAMINASE
ID

http://purl.bioontology.org/ontology/OMIM/609806
altLabel

PORPHYRIA, ACUTE INTERMITTENT

HMBS

PRE-UROPORPHYRINOGEN SYNTHASE

UROPORPHYRINOGEN I SYNTHASE

UROPORPHYRINOGEN I SYNTHETASE

PORPHYRIA, ACUTE INTERMITTENT, NONERYTHROID VARIANT

PBGD

PORPHOBILINOGEN DEAMINASE
cui

C1867969

C0162565

C1415597
Gene Locus

11q23.3
Gene Symbol

HMBS

PBGD

UPS
Has allelic variant

http://purl.bioontology.org/ontology/OMIM/609806.0034

http://purl.bioontology.org/ontology/OMIM/609806.0037

http://purl.bioontology.org/ontology/OMIM/609806.0033

http://purl.bioontology.org/ontology/OMIM/609806.0039

http://purl.bioontology.org/ontology/OMIM/609806.0030

http://purl.bioontology.org/ontology/OMIM/609806.0038

http://purl.bioontology.org/ontology/OMIM/609806.0031

http://purl.bioontology.org/ontology/OMIM/609806.0035

http://purl.bioontology.org/ontology/OMIM/609806.0032

http://purl.bioontology.org/ontology/OMIM/609806.0036

http://purl.bioontology.org/ontology/OMIM/609806.0028

http://purl.bioontology.org/ontology/OMIM/609806.0027

http://purl.bioontology.org/ontology/OMIM/609806.0020

http://purl.bioontology.org/ontology/OMIM/609806.0021

http://purl.bioontology.org/ontology/OMIM/609806.0024

http://purl.bioontology.org/ontology/OMIM/609806.0025

http://purl.bioontology.org/ontology/OMIM/609806.0022

http://purl.bioontology.org/ontology/OMIM/609806.0029

http://purl.bioontology.org/ontology/OMIM/609806.0026

http://purl.bioontology.org/ontology/OMIM/609806.0023

http://purl.bioontology.org/ontology/OMIM/609806.0001

http://purl.bioontology.org/ontology/OMIM/609806.0004

http://purl.bioontology.org/ontology/OMIM/609806.0008

http://purl.bioontology.org/ontology/OMIM/609806.0005

http://purl.bioontology.org/ontology/OMIM/609806.0002

http://purl.bioontology.org/ontology/OMIM/609806.0007

http://purl.bioontology.org/ontology/OMIM/609806.0003

http://purl.bioontology.org/ontology/OMIM/609806.0006

http://purl.bioontology.org/ontology/OMIM/609806.0009

http://purl.bioontology.org/ontology/OMIM/609806.0042

http://purl.bioontology.org/ontology/OMIM/609806.0040

http://purl.bioontology.org/ontology/OMIM/609806.0045

http://purl.bioontology.org/ontology/OMIM/609806.0046

http://purl.bioontology.org/ontology/OMIM/609806.0041

http://purl.bioontology.org/ontology/OMIM/609806.0043

http://purl.bioontology.org/ontology/OMIM/609806.0044

http://purl.bioontology.org/ontology/OMIM/609806.0010

http://purl.bioontology.org/ontology/OMIM/609806.0017

http://purl.bioontology.org/ontology/OMIM/609806.0014

http://purl.bioontology.org/ontology/OMIM/609806.0012

http://purl.bioontology.org/ontology/OMIM/609806.0011

http://purl.bioontology.org/ontology/OMIM/609806.0019

http://purl.bioontology.org/ontology/OMIM/609806.0016

http://purl.bioontology.org/ontology/OMIM/609806.0015

http://purl.bioontology.org/ontology/OMIM/609806.0013

http://purl.bioontology.org/ontology/OMIM/609806.0018
MIMTYPEMEANING

Gene with known sequence
notation

609806
OMIM Entry Type

1
OMIM MimType Value

star
prefLabel

HYDROXYMETHYLBILANE SYNTHASE
tui

T047

T028
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MESH/C566769 MESH CUI
http://purl.bioontology.org/ontology/MESH/D017118 MESH CUI
http://purl.bioontology.org/ontology/LNC/LP417400-1 LOINC CUI
http://purl.bioontology.org/ontology/MSHFRE/D017118 MSHFRE CUI
http://purl.bioontology.org/ontology/NDFRT/N0000003536 NDFRT CUI
http://purl.bioontology.org/ontology/MDRFRE/10000818 MDRFRE CUI
http://purl.bioontology.org/ontology/MDRGER/10000818 MDRGER CUI
http://purl.bioontology.org/ontology/MEDDRA/10000818 MEDDRA CUI
http://purl.bioontology.org/ontology/RCD/C3712 RCD CUI
http://purl.bioontology.org/ontology/SNOMEDCT/234422006 SNOMEDCT CUI
http://purl.bioontology.org/ontology/CSP/1849-7674 CRISP CUI
http://purl.bioontology.org/ontology/CSP/0944-4849 CRISP CUI
http://purl.bioontology.org/ontology/SNMI/D6-88310 SNMI CUI
http://purl.bioontology.org/ontology/MDRGER/10036182 MDRGER CUI
http://purl.bioontology.org/ontology/MEDDRA/10036182 MEDDRA CUI
http://purl.bioontology.org/ontology/SCTSPA/234422006 SCTSPA CUI
http://purl.bioontology.org/ontology/MDRFRE/10036182 MDRFRE CUI
http://id.nlm.nih.gov/mesh/D011163 MDM LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D08.811.913.225.575 RH-MESH LOOM
http://www.phoc.org.cn/pmo/class/PMO_00020824 PMAPP-PMO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D011163 RH-MESH LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/30690009 SNOMEDCT LOOM
http://www.limics.org/hrdo/rdfns#gen_id_16205 HRDO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#9971 OCHV LOOM
http://purl.obolibrary.org/obo/OMIT_0012129 OMIT LOOM
http://purl.bioontology.org/ontology/MESH/D011163 MESH LOOM
http://purl.obolibrary.org/obo/MESH_D011163 BERO LOOM
http://www.orpha.net/ORDO/Orphanet_122438 ORDO LOOM