Human Phenotype Ontology / 人类表型本体

Last uploaded: September 7, 2023
Preferred Name

Ectodermal dysplasia

Definitions

Ectodermal dysplasia is a group of conditions in which there is abnormal development of the skin, hair, nails, teeth, or sweat glands. This term is kept in the HPO for now as 'ectodermal dysplasia' has been recorded as a phenotypic of other disorders such as DEAFNESS WITH ANHIDROTIC ECTODERMAL DYSPLASIA (MIM125050). Nevertheless it is preferable to use precise descriptions of the phenotypic abnormalities and this term should not be used for new annotations. It will be made obsolete in the future.

ID

http://purl.obolibrary.org/obo/HP_0000968

comment

This term is kept in the HPO for now as 'ectodermal dysplasia' has been recorded as a phenotypic of other disorders such as DEAFNESS WITH ANHIDROTIC ECTODERMAL DYSPLASIA (MIM125050). Nevertheless it is preferable to use precise descriptions of the phenotypic abnormalities and this term should not be used for new annotations. It will be made obsolete in the future.

database_cross_reference

UMLS:C0013575

SNOMEDCT_US:254154003

MSH:D004476

SNOMEDCT_US:8654005

definition

Ectodermal dysplasia is a group of conditions in which there is abnormal development of the skin, hair, nails, teeth, or sweat glands.

has_alternative_id

HP:0007615

has_obo_namespace

human_phenotype

id

HP:0000968

label

Ectodermal dysplasia

notation

HP:0000968

prefLabel

Ectodermal dysplasia

treeView

http://purl.obolibrary.org/obo/HP_0011354

subClassOf

http://purl.obolibrary.org/obo/HP_0011354

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http://purl.bioontology.org/ontology/OMIM/MTHU008316 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 LOOM
http://purl.bioontology.org/ontology/MESH/D004476 Medical Subject Headings / 医学主题词表 LOOM
http://purl.obolibrary.org/obo/DOID_2121 Human Disease Ontology / 人类疾病本体 LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84683 National Cancer Institute Thesaurus / 美国国家癌症研究所词典 LOOM