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Namespace Prefixes

PrefixIRI
n8https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/
n2http://purl.obolibrary.org/obo/
wdrshttp://www.w3.org/2007/05/powder-s#
rdfshttp://www.w3.org/2000/01/rdf-schema#
obohttp://www.geneontology.org/formats/oboInOwl#
n4http://purl.obolibrary.org/obo/doid#
rdfhttp://www.w3.org/1999/02/22-rdf-syntax-ns#
owlhttp://www.w3.org/2002/07/owl#
xsdhhttp://www.w3.org/2001/XMLSchema#

Statements

Subject Item
n2:DOID_14793
rdf:type
owl:Class
rdfs:subClassOf
n2:DOID_2121
rdfs:label
hypohidrotic ectodermal dysplasia
rdfs:comment
OMIM mapping confirmed by DO. [SN].
wdrs:describedby
n8:doid.owl
obo:id
DOID:14793
obo:hasAlternativeId
DOID:0050446 DOID:0050447
obo:hasDbXref
OMIM:129490 OMIM:305100 ORDO:238468 SNOMEDCT_US_2021_09_01:239007005 OMIM:300291 MESH:D053358 GARD:76 NCI:C84562 UMLS_CUI:C0162359 OMIM:224900
obo:hasExactSynonym
Christ-Siemens-Touraine Syndrome Ectodermal Dysplasia 1, Anhydrotic anhidrotic ectodermal dysplasia 3 Hypohidrotic X-linked ectodermal dysplasia
obo:hasOBONamespace
disease_ontology
obo:inSubset
n4:NCIthesaurus
n2:IAO_0000115
An ectodermal dysplasia that is characterized by malformation of ectodermal (skin, hair, teeth and sweat glands) structures including hypotrichosis (sparseness of scalp and body hair), hypohidrosis (reduced ability to sweat), and hypodontia (congenital absence of teeth).