Human Disease Ontology

Last uploaded: May 1, 2024
Preferred Name

ciliopathy

Synonyms
Definitions

A syndrome associated with mutations encoding defective proteins, which result in either abnormal function formation or function of cilia.

ID

http://purl.obolibrary.org/obo/DOID_0060340

created_by

emitraka

creation_date

2015-05-21T10:41:29Z

definition

A syndrome associated with mutations encoding defective proteins, which result in either abnormal function formation or function of cilia.

disease has basis in

http://purl.obolibrary.org/obo/SO_0000704

has_obo_namespace

disease_ontology

id

DOID:0060340

label

ciliopathy

notation

DOID:0060340

prefLabel

ciliopathy

subClassOf

http://purl.obolibrary.org/obo/DOID_225

http://purl.obolibrary.org/obo/DOID_0050177

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