Preferred Name

USH1 PROTEIN NETWORK COMPONENT HARMONIN

Synonyms

PDZ73

ID

http://purl.bioontology.org/ontology/OMIM/605242

altLabel

PDZ73

DEAFNESS, AUTOSOMAL RECESSIVE 18A

USHER SYNDROME, TYPE IC

PDZ DOMAIN-CONTAINING PROTEIN, 73-KD

USH1C

USH1C GENE

HARMONIN

cui

C1421379

C1865870

C1848604

Gene Locus

11p15.1

Gene Symbol

USH1C

DFNB18A

Has allelic variant

http://purl.bioontology.org/ontology/OMIM/605242.0013

http://purl.bioontology.org/ontology/OMIM/605242.0004

http://purl.bioontology.org/ontology/OMIM/605242.0006

http://purl.bioontology.org/ontology/OMIM/605242.0005

http://purl.bioontology.org/ontology/OMIM/605242.0010

http://purl.bioontology.org/ontology/OMIM/605242.0002

http://purl.bioontology.org/ontology/OMIM/605242.0001

http://purl.bioontology.org/ontology/OMIM/605242.0003

http://purl.bioontology.org/ontology/OMIM/605242.0008

http://purl.bioontology.org/ontology/OMIM/605242.0007

http://purl.bioontology.org/ontology/OMIM/605242.0011

http://purl.bioontology.org/ontology/OMIM/605242.0009

http://purl.bioontology.org/ontology/OMIM/605242.0012

MIMTYPEMEANING

Gene with known sequence

notation

605242

OMIM Entry Type

1

OMIM MimType Value

star

prefLabel

USH1 PROTEIN NETWORK COMPONENT HARMONIN

tui

T028

T047

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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MESH/C564753 Medical Subject Headings / 医学主题词表 CUI
http://purl.bioontology.org/ontology/MESH/C566580 Medical Subject Headings / 医学主题词表 CUI
http://purl.bioontology.org/ontology/LNC/LP188516-1 Logical Observation Identifier Names and Codes / 逻辑观察标识符名称和代码 CUI
http://www.orpha.net/ORDO/Orphanet_120433 Orphanet Rare Disease Ontology / Orphanet罕见病本体 LOOM