Human Disease Ontology / 人类疾病本体

Last uploaded: September 7, 2023
Preferred Name

Usher syndrome type 1

Synonyms

USH1

Definitions

An Usher syndrome characterized by profound congenital deafness, vestibular dysfunction and early development of retinitis pigmentosa.

ID

http://purl.obolibrary.org/obo/DOID_0110826

database_cross_reference

OMIM:276900

ICD10CM:H35.5

ORDO:231169

definition

An Usher syndrome characterized by profound congenital deafness, vestibular dysfunction and early development of retinitis pigmentosa.

has exact synonym

USH1

US1

has_obo_namespace

disease_ontology

id

DOID:0110826

in_subset

http://purl.obolibrary.org/obo/doid#DO_rare_slim

label

Usher syndrome type 1

notation

DOID:0110826

prefLabel

Usher syndrome type 1

subClassOf

http://purl.obolibrary.org/obo/DOID_0050439

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http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C126327 National Cancer Institute Thesaurus / 美国国家癌症研究所词典 LOOM
http://purl.obolibrary.org/obo/MONDO_0010168 Mondo Disease Ontology / Mondo疾病本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0010168 Experimental Factor Ontology / 实验性因素本体 LOOM
http://www.orpha.net/ORDO/Orphanet_231169 Orphanet Rare Disease Ontology / Orphanet罕见病本体 LOOM