SHMARQL

congenital hypoplastic anemia

<http://www.wikidata.org/entity/Q5160440>

Human disease
rdfs:label
"congenital hypoplastic anemia"@en
skos:altLabel "Constitutional aplastic anaemia"@en
"congenital aplastic anemia"@en
"constitutional aplastic anemia"@en
"hypoplastic anemia - familial"@en
"rare constitutional aplastic anemia"@en
schema:description
"Human disease"@en
schema:dateModified "2026-10-24T00:30:54+00:00"^^xsd:dateTime
schema:version 2560166468
wikibase:identifiers 24
wikibase:sitelinks 1
wikibase:statements 90
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p:direct-normalized/P486 <http://id.nlm.nih.gov/mesh/D029502>
p:direct-normalized/P5270 <http://purl.obolibrary.org/obo/MONDO_0001713>
p:direct-normalized/P6366 <https://makg.org/entity/2780476218>
<https://makg.org/entity/2908700028>
<https://makg.org/entity/2909706114>
p:direct-normalized/P665 <http://www.kegg.jp/entry/H01132>
p:direct-normalized/P672 <http://id.nlm.nih.gov/mesh/C15.378.050.085.080>
<http://id.nlm.nih.gov/mesh/C15.378.190.223.500.500>
<http://id.nlm.nih.gov/mesh/C16.320.077>
p:direct-normalized/P699 <http://purl.obolibrary.org/obo/DOID_DOID:1342>
wdt:P11143 "Congenital hypoplastic anemia"
wdt:P14914 "D68383"
wdt:P1550 "68383"
wdt:P1692 "284.0"
"284.09"
wdt:P1995 hematology
wdt:P2176 deferasirox
wdt:P2293 RAD51
GATA1
BRCA2
ERCC4
FANCA
FANCD2
FANCE
FANCB
FANCF
FANCG
MPL
RAD51C
RPL5
RPL8
RPL9
RPL11
RPL15
RPL18
RPL26
RPL27
RPL31
RPL35A
RPS7
RPS10
RPS15A
RPS17
RPS19
RPS20
RPS24
RPS26
RPS27
RPS28
RPS29
SRP72
XRCC2
MAD2L2
RPL35
UBE2T
ADA2
HEATR3
FANCL
RFWD3
FANCI
FANCM
ACD
PALB2
BRIP1
SLX4
TSR2
ERCC6L2
FANCC
THPO
BRCA1
wdt:P279 aplastic anemia
congenital bone marrow failure syndromes
wdt:P2888 <http://identifiers.org/doid/DOID:1342>
<http://purl.obolibrary.org/obo/DOID_1342>
<http://www.orpha.net/ORDO/Orphanet_68383>
wdt:P2892 "C0702159"
"C0949116"
"C5681331"
wdt:P31 type of disease
wdt:P3841 "HP:0004810"
wdt:P4229 "D61.0"
"D61.01"
wdt:P4317 "6149"
wdt:P486 "D029502"
wdt:P492 "609135"
wdt:P5008 WikiProject Medicine
wdt:P5270 "MONDO_0001713"
wdt:P6366 "2780476218"
"2908700028"
"2909706114"
wdt:P665 "H01132"
wdt:P672 "C15.378.050.085.080"
"C15.378.190.223.500.500"
"C16.320.077"
wdt:P699 "DOID:1342"
wdt:P7329 "3A70.0"
wdt:P7807 "350719523"
"557764336"
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