Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024

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Preferred Name	HEXOSAMINIDASE A
Synonyms	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
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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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