Preferred Name

ESPIN

Synonyms

ESPIN, MOUSE, HOMOLOG OF

ID

http://purl.bioontology.org/ontology/OMIM/606351

altLabel

ESPIN, MOUSE, HOMOLOG OF

DEAFNESS, AUTOSOMAL DOMINANT, WITHOUT VESTIBULAR INVOLVEMENT

DEAFNESS, AUTOSOMAL RECESSIVE 36, WITH VESTIBULAR INVOLVEMENT

ESPN

USHER SYNDROME, TYPE 1M

DEAFNESS, AUTOSOMAL RECESSIVE 36, WITHOUT VESTIBULAR INVOLVEMENT

cui

C3502293

C5231434

C3149566

C4017805

C1421921

Gene Locus

1p36.3-p36.1

Gene Symbol

USH1M

ESPN

Has allelic variant

http://purl.bioontology.org/ontology/OMIM/606351.0003

http://purl.bioontology.org/ontology/OMIM/606351.0004

http://purl.bioontology.org/ontology/OMIM/606351.0006

http://purl.bioontology.org/ontology/OMIM/606351.0005

http://purl.bioontology.org/ontology/OMIM/606351.0001

http://purl.bioontology.org/ontology/OMIM/606351.0002

http://purl.bioontology.org/ontology/OMIM/606351.0007

http://purl.bioontology.org/ontology/OMIM/606351.0008

MIMTYPEMEANING

Gene with known sequence

notation

606351

OMIM Entry Type

1

OMIM MimType Value

star

prefLabel

ESPIN

tui

T028

T033

T047

Delete Subject Author Type Created
No notes to display
Create New Mapping

Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/PR_000007202 Protein Ontology / 蛋白质本体 LOOM
http://purl.obolibrary.org/obo/PR_000007202 Experimental Factor Ontology / 实验性因素本体 LOOM
http://www.orpha.net/ORDO/Orphanet_160240 Orphanet Rare Disease Ontology / Orphanet罕见病本体 LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C201104 National Cancer Institute Thesaurus / 美国国家癌症研究所词典 LOOM
http://purl.bioontology.org/ontology/MESH/C567219 Medical Subject Headings / 医学主题词表 CUI