Human Disease Ontology / 人类疾病本体

Last uploaded: September 7, 2023
Preferred Name

Kenny-Caffey syndrome type 2

Definitions

A Kenny-Caffey syndrome that has_material_basis_in heterozygous mutation in the FAM111A gene on chromosome 11q12.

ID

http://purl.obolibrary.org/obo/DOID_0080723

database_cross_reference

OMIM:127000

ORDO:93325

GARD:83

definition

A Kenny-Caffey syndrome that has_material_basis_in heterozygous mutation in the FAM111A gene on chromosome 11q12.

has exact match

MESH:C537020

has material basis in

http://purl.obolibrary.org/obo/GENO_0000147

has_obo_namespace

disease_ontology

id

DOID:0080723

in_subset

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

label

Kenny-Caffey syndrome type 2

notation

DOID:0080723

prefLabel

Kenny-Caffey syndrome type 2

subClassOf

http://purl.obolibrary.org/obo/DOID_0080724

http://purl.obolibrary.org/obo/DOID_0050736

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http://purl.bioontology.org/ontology/OMIM/127000 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 LOOM
http://purl.bioontology.org/ontology/MESH/C537020 Medical Subject Headings / 医学主题词表 LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C130993 National Cancer Institute Thesaurus / 美国国家癌症研究所词典 LOOM