Human Disease Ontology / 人类疾病本体

Last uploaded: September 7, 2023
Preferred Name

ectodermal dysplasia

Synonyms

Congenital ectodermal defect

Definitions

A syndrome characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings.

ID

http://purl.obolibrary.org/obo/DOID_2121

database_cross_reference

NCI:C84683

ORDO:79373

MESH:D004476

ICD9CM:757.31

UMLS_CUI:C0013575

SNOMEDCT_US_2022_09_01:8654005

OMIM:PS305100

GARD:6317

definition

A syndrome characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings.

has exact synonym

Congenital ectodermal defect

Congenital ectodermal dysplasia

has_obo_namespace

disease_ontology

id

DOID:2121

in_subset

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

label

ectodermal dysplasia

notation

DOID:2121

prefLabel

ectodermal dysplasia

subClassOf

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

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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://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
http://purl.obolibrary.org/obo/HP_0000968 Human Phenotype Ontology / 人类表型本体 LOOM