Human Disease Ontology / 人类疾病本体

Last uploaded: September 7, 2023

Preferred Name	punctate palmoplantar keratoderma type III
Synonyms	punctate palmoplantar keratoderma type 3
Definitions	A punctate palmoplantar keratoderma that is characterized by hyperkeratinization of the palms and soles, has_material_basis_in autosomal dominant inheritance of mutation in the AAGAB gene.
ID	http://purl.obolibrary.org/obo/DOID_0060362
created_by	elvira
creation_date	2015-09-03T15:31:19Z
database_cross_reference	UMLS_CUI:C0545044 MESH:C535653 ORDO:38 SNOMEDCT_US_2022_09_01:111029001 OMIM:101850
definition	A punctate palmoplantar keratoderma that is characterized by hyperkeratinization of the palms and soles, has_material_basis_in autosomal dominant inheritance of mutation in the AAGAB gene.
has exact synonym	punctate palmoplantar keratoderma type 3 punctate palmoplantar hyperkeratosis type 3 acrokeratoelastoidosis of Costa
has material basis in	http://purl.obolibrary.org/obo/GENO_0000147
has_obo_namespace	disease_ontology
id	DOID:0060362
in_subset	http://purl.obolibrary.org/obo/doid#DO_rare_slim
label	punctate palmoplantar keratoderma type III
notation	DOID:0060362
prefLabel	punctate palmoplantar keratoderma type III
subClassOf	http://purl.obolibrary.org/obo/DOID_0050736 http://purl.obolibrary.org/obo/DOID_0060361

Delete	Subject	Author	Type	Created
No notes to display

Delete	Mapping To	Ontology	Source
	http://purl.obolibrary.org/obo/MONDO_0007047	Mondo Disease Ontology / Mondo疾病本体	LOOM
	http://www.ebi.ac.uk/efo/EFO_1000758	Experimental Factor Ontology / 实验性因素本体	LOOM