Preferred Name

ectodermal dysplasia
Synonyms

Congenital ectodermal dysplasia

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

Obsolete

true

alternative label

Congenital ectodermal dysplasia

Congenital ectodermal defect

database_cross_reference

OMIM:PS305100

MESH:D004476

UMLS_CUI:C0013575

ICD9CM:757.31

SNOMEDCT_US_2023_03_01:8654005

GARD:6317

NCI:C84683

ORDO:79373

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 dysplasia

Congenital ectodermal defect

has_obo_namespace

disease_ontology

id

DOID:2121

in_subset

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

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

label

ectodermal dysplasia

notation

DOID:2121

note

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

owl:deprecated

true

preferred label

ectodermal dysplasia

prefLabel

ectodermal dysplasia

subClassOf

http://www.w3.org/2002/07/owl#DeprecatedClass

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

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Delete Mapping To Ontology Source
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http://purl.obolibrary.org/obo/OMIT_0005727 OMIT LOOM
rgo:23303 GAMUTS LOOM
http://purl.bioontology.org/ontology/MESH/D004476 MESH LOOM
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http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Ectodermal_Dysplasia CSEO LOOM
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http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84683 NCIT LOOM
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http://sbmi.uth.tmc.edu/ontology/ochv#4264 OCHV LOOM