SHMARQL

ectodermal dysplasia

<http://www.wikidata.org/entity/Q1323713>

human disease
ectodermal dysplasia
rdfs:label
"ectodermal dysplasia"@en
skos:altLabel
"Congenital ectodermal defect"@en
"Congenital ectodermal defect (disorder)"@en
"Congenital ectodermal dysplasia"@en
"Ectodermal dysplasia (disorder)"@en
schema:description
"human disease"@en
schema:dateModified "2026-10-24T00:36:17+00:00"^^xsd:dateTime
schema:version 2560167249
wikibase:identifiers 29
31
wikibase:sitelinks 14
wikibase:statements 115
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p:P646 wd:statement/Q1323713-5D9EF898-5620-4DAA-A8B7-C3F9B5CB9B72
p:P665 wd:statement/Q1323713-9592A9C1-E91C-4DD6-B876-8ACC5B21F3E6
p:P672 wd:statement/Q1323713-003CAAAA-69BB-46DF-802A-FF3CB0BA816C
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p:P699 wd:statement/Q1323713-1D0E6B6C-48E4-4165-9533-91A3E25921A3
p:direct-normalized/P2347 <http://www.yso.fi/onto/yso/p38748>
p:direct-normalized/P2581 <http://babelnet.org/rdf/s00874609n>
p:direct-normalized/P486 <http://id.nlm.nih.gov/mesh/D004476>
p:direct-normalized/P5806 <http://snomed.info/id/8654005>
p:direct-normalized/P6366 <https://makg.org/entity/2777304866>
p:direct-normalized/P665 <http://www.kegg.jp/entry/H02456>
p:direct-normalized/P672 <http://id.nlm.nih.gov/mesh/C16.131.077.350>
<http://id.nlm.nih.gov/mesh/C16.131.831.350>
<http://id.nlm.nih.gov/mesh/C16.320.850.250>
<http://id.nlm.nih.gov/mesh/C17.800.804.350>
<http://id.nlm.nih.gov/mesh/C17.800.827.250>
p:direct-normalized/P699 <http://purl.obolibrary.org/obo/DOID_DOID:2121>
wdt:P10283 "C2777304866"
wdt:P11143 "Ectodermal dysplasia"
wdt:P1193 0.00075^^xsd:decimal
wdt:P13204 "hkvvqux8"
wdt:P14914 "D79373"
wdt:P1550 "79373"
wdt:P1748 "C84683"
wdt:P18 <http://commons.wikimedia.org/wiki/Special:FilePath/Dental%20abnormalities%20in%20a%205-year-old%20girl%20from%20north%20Sweden%20family%20who%20suffered%20from%20various%20symptoms%20of%20autosomal%20dominant%20hypohidrotic%20ectodermal%20dysplasia%20%28HED%29.jpg>
wdt:P1995 medical genetics
wdt:P2293 KRT14
GLI1
CTSC
DSP
ERCC2
IKBKG
TYMS
LSS
TRAF6
ERCC3
TP63
TERT
TRPS1
NFKBIA
GJA1
RHOA
AARS1
AP1B1
BRAF
CDH3
CTNND1
DKC1
DLX3
EVC
EXT1
EDA
GJB2
GTF2E2
HOXC13
KRT85
LIG4
MSX1
NPM1
PARN
PKP1
NECTIN1
RAD21
RMRP
TARS1
TERC
RNF113A
PIGL
IFT140
GJB6
PNPLA6
EDAR
TINF2
IFT52
RTEL1
NSUN2
WRAP53
NOP10
NHP2
ROGDI
USB1
CTC1
WNT10A
NECTIN4
ANTXR1
IFT43
TWIST2
KRT74
KDF1
EDARADD
EVC2
MPLKIP
KCTD1
CYP26C1
GTF2H5
KRAS
SLC25A24
COL11A1
wdt:P2347 "38748"
wdt:P2581 "00874609n"
wdt:P279 syndrome
wdt:P2841 neonatal onset
infantile onset
wdt:P2888 <http://identifiers.org/doid/DOID:2121>
<http://purl.obolibrary.org/obo/DOID_2121>
wdt:P2892 "C0013575"
wdt:P31 type of disease
rare disease
wdt:P3417 "Ectodermal-Dysplasia"
wdt:P3471 "52982"
wdt:P373 "Ectodermal dysplasia"
wdt:P3827 "ectodermal-dysplasia"
wdt:P3841 "HP:0000968"
wdt:P4233 "ectodermal-dysplasia"
wdt:P4317 "6317"
wdt:P486 "D004476"
wdt:P493 "757.31"
wdt:P494 "Q82.4"
wdt:P5008 WikiProject Medicine
wdt:P557 "30597"
wdt:P5806 "8654005"
wdt:P604 "001469"
wdt:P6366 "2777304866"
wdt:P646 "/m/05jntp"
wdt:P665 "H02456"
wdt:P672 "C16.131.077.350"
"C16.131.831.350"
"C16.320.850.250"
"C17.800.804.350"
"C17.800.827.250"
wdt:P673 "1110595"
wdt:P699 "DOID:2121"
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data from SPARQL profile: Wikidata