Preferred Name

HCLS1-ASSOCIATED PROTEIN X1

Synonyms

HAX1

ID

http://purl.bioontology.org/ontology/OMIM/605998

altLabel

HAX1

NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE

cui

C1825449

C5235141

Gene Locus

1q21.3

Gene Symbol

HAX1

SCN3

Has allelic variant

http://purl.bioontology.org/ontology/OMIM/605998.0003

http://purl.bioontology.org/ontology/OMIM/605998.0004

http://purl.bioontology.org/ontology/OMIM/605998.0005

http://purl.bioontology.org/ontology/OMIM/605998.0001

http://purl.bioontology.org/ontology/OMIM/605998.0002

http://purl.bioontology.org/ontology/OMIM/605998.0007

http://purl.bioontology.org/ontology/OMIM/605998.0006

http://purl.bioontology.org/ontology/OMIM/605998.0008

MIMTYPEMEANING

Gene with known sequence

notation

605998

OMIM Entry Type

1

OMIM MimType Value

star

prefLabel

HCLS1-ASSOCIATED PROTEIN X1

tui

T028

T047

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Delete Mapping To Ontology Source
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C176520 National Cancer Institute Thesaurus / 美国国家癌症研究所词典 LOOM
http://www.orpha.net/ORDO/Orphanet_122370 Orphanet Rare Disease Ontology / Orphanet罕见病本体 LOOM
http://purl.obolibrary.org/obo/PR_000008455 Protein Ontology / 蛋白质本体 LOOM
http://purl.obolibrary.org/obo/PR_000008455 Experimental Factor Ontology / 实验性因素本体 LOOM
http://purl.bioontology.org/ontology/MESH/C537592 Medical Subject Headings / 医学主题词表 CUI