Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024
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Preferred Name

HEXOSAMINIDASE A
Synonyms

HEXA, DN ALLELE
ID

http://purl.bioontology.org/ontology/OMIM/606869
altLabel

HEXA, DN ALLELE

HEXA, CZECHOSLOVAKIAN ALLELE

TAY SACHS DISEASE, MILD

HEXA

TAY-SACHS DISEASE, JUVENILE/ADULT

TAY-SACHS DISEASE

GM2-GANGLIOSIDOSIS, ADULT-ONSET

GM2-GANGLIOSIDOSIS, CHRONIC

GM2-GANGLIOSIDOSIS, SUBACUTE

TAY-SACHS DISEASE, JUVENILE

GM2-GANGLIOSIDOSIS, LATE ONSET

GM2-GANGLIOSIDOSIS, ADULT

GM2-GANGLIOSIDOSIS, JUVENILE

GM2-GANGLIOSIDOSIS, B1 VARIANT

TAY-SACHS DISEASE, B1 VARIANT

BETA-HEXOSAMINIDASE A

BETA-HEXOSAMINIDASE A, PSEUDODEFICIENCY OF
cui

C4310843

C2749283

C4310890

C0268276

C1848913

C2874270

C4017633

C0039373

C4017632

C4310892

C4310891

C4310893

C1848916

C4016988

C4310889

C1415522
Gene Locus

15q23-q24
Gene Symbol

TSD

HEXA
Has allelic variant

http://purl.bioontology.org/ontology/OMIM/606869.0010

http://purl.bioontology.org/ontology/OMIM/606869.0019

http://purl.bioontology.org/ontology/OMIM/606869.0016

http://purl.bioontology.org/ontology/OMIM/606869.0017

http://purl.bioontology.org/ontology/OMIM/606869.0013

http://purl.bioontology.org/ontology/OMIM/606869.0011

http://purl.bioontology.org/ontology/OMIM/606869.0012

http://purl.bioontology.org/ontology/OMIM/606869.0014

http://purl.bioontology.org/ontology/OMIM/606869.0015

http://purl.bioontology.org/ontology/OMIM/606869.0025

http://purl.bioontology.org/ontology/OMIM/606869.0021

http://purl.bioontology.org/ontology/OMIM/606869.0022

http://purl.bioontology.org/ontology/OMIM/606869.0020

http://purl.bioontology.org/ontology/OMIM/606869.0023

http://purl.bioontology.org/ontology/OMIM/606869.0027

http://purl.bioontology.org/ontology/OMIM/606869.0028

http://purl.bioontology.org/ontology/OMIM/606869.0029

http://purl.bioontology.org/ontology/OMIM/606869.0026

http://purl.bioontology.org/ontology/OMIM/606869.0024

http://purl.bioontology.org/ontology/OMIM/606869.0009

http://purl.bioontology.org/ontology/OMIM/606869.0001

http://purl.bioontology.org/ontology/OMIM/606869.0007

http://purl.bioontology.org/ontology/OMIM/606869.0005

http://purl.bioontology.org/ontology/OMIM/606869.0006

http://purl.bioontology.org/ontology/OMIM/606869.0008

http://purl.bioontology.org/ontology/OMIM/606869.0003

http://purl.bioontology.org/ontology/OMIM/606869.0002

http://purl.bioontology.org/ontology/OMIM/606869.0004

http://purl.bioontology.org/ontology/OMIM/606869.0038

http://purl.bioontology.org/ontology/OMIM/606869.0033

http://purl.bioontology.org/ontology/OMIM/606869.0039

http://purl.bioontology.org/ontology/OMIM/606869.0031

http://purl.bioontology.org/ontology/OMIM/606869.0036

http://purl.bioontology.org/ontology/OMIM/606869.0030

http://purl.bioontology.org/ontology/OMIM/606869.0034

http://purl.bioontology.org/ontology/OMIM/606869.0035

http://purl.bioontology.org/ontology/OMIM/606869.0032

http://purl.bioontology.org/ontology/OMIM/606869.0045

http://purl.bioontology.org/ontology/OMIM/606869.0048

http://purl.bioontology.org/ontology/OMIM/606869.0040

http://purl.bioontology.org/ontology/OMIM/606869.0046

http://purl.bioontology.org/ontology/OMIM/606869.0049

http://purl.bioontology.org/ontology/OMIM/606869.0042

http://purl.bioontology.org/ontology/OMIM/606869.0043

http://purl.bioontology.org/ontology/OMIM/606869.0044

http://purl.bioontology.org/ontology/OMIM/606869.0047

http://purl.bioontology.org/ontology/OMIM/606869.0041

http://purl.bioontology.org/ontology/OMIM/606869.0050

http://purl.bioontology.org/ontology/OMIM/606869.0056

http://purl.bioontology.org/ontology/OMIM/606869.0055

http://purl.bioontology.org/ontology/OMIM/606869.0058

http://purl.bioontology.org/ontology/OMIM/606869.0053

http://purl.bioontology.org/ontology/OMIM/606869.0052

http://purl.bioontology.org/ontology/OMIM/606869.0057

http://purl.bioontology.org/ontology/OMIM/606869.0051

http://purl.bioontology.org/ontology/OMIM/606869.0054
MIMTYPEMEANING

Gene with known sequence
notation

606869
OMIM Entry Type

1
OMIM MimType Value

star
prefLabel

HEXOSAMINIDASE A
tui

T047

T033

T028
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MESH/C567601 MESH CUI
http://purl.bioontology.org/ontology/SNMI/D6-76140 SNMI CUI
http://purl.bioontology.org/ontology/MESH/C564782 MESH CUI
http://purl.bioontology.org/ontology/ICD10CM/E75.09 ICD10CM CUI
http://purl.bioontology.org/ontology/ICD10CM/E75.02 ICD10CM CUI
http://purl.bioontology.org/ontology/RCD/X40V5 RCD CUI
http://purl.bioontology.org/ontology/LNC/LP30742-8 LOINC CUI
http://purl.bioontology.org/ontology/ICD10CM/E75.09 ICD10CM CUI
http://purl.bioontology.org/ontology/SCTSPA/9537004 SCTSPA CUI
http://purl.bioontology.org/ontology/SNOMEDCT/9537004 SNOMEDCT CUI
http://purl.bioontology.org/ontology/SNMI/D6-76130 SNMI CUI
http://purl.bioontology.org/ontology/MEDDRA/10043147 MEDDRA CUI
http://purl.bioontology.org/ontology/CSP/1849-8690 CRISP CUI
http://purl.bioontology.org/ontology/NDFRT/N0000002901 NDFRT CUI
http://purl.bioontology.org/ontology/MDRGER/10043147 MDRGER CUI
http://purl.bioontology.org/ontology/MESH/D013661 MESH CUI
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0039373 MEDLINEPLUS CUI
http://purl.bioontology.org/ontology/SCTSPA/111385000 SCTSPA CUI
http://purl.bioontology.org/ontology/RCD/X40V1 RCD CUI
http://purl.bioontology.org/ontology/MDRFRE/10043147 MDRFRE CUI
http://purl.bioontology.org/ontology/MSHFRE/D013661 MSHFRE CUI
http://purl.bioontology.org/ontology/SNOMEDCT/111385000 SNOMEDCT CUI
http://purl.bioontology.org/ontology/SNOMEDCT/238024005 SNOMEDCT CUI
http://purl.bioontology.org/ontology/SCTSPA/238024005 SCTSPA CUI
http://purl.bioontology.org/ontology/MESH/C564785 MESH CUI
http://sbmi.uth.tmc.edu/ontology/ochv#C0162330 OCHV LOOM
http://id.nlm.nih.gov/mesh/D054818 MDM LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#17798 OCHV LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D08.811.277.450.483.180.750 RH-MESH LOOM
http://www.phoc.org.cn/pmo/class/PMO_00019550 PMAPP-PMO LOOM
http://purl.jp/bio/4/id/200906098982165004 IOBC LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D054818 RH-MESH LOOM
http://purl.obolibrary.org/obo/OMIT_0026037 OMIT LOOM
http://purl.bioontology.org/ontology/MESH/D054818 MESH LOOM
http://purl.obolibrary.org/obo/MESH_D054818 BERO LOOM