About: immunodeficiency-centromeric instability-facial anomalies syndrome

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About: immunodeficiency-centromeric instability-facial anomalies syndrome Goto Sponge NotDistinct Permalink

An Entity of Type : wikibase:Item, within Data Space : wikidata.demo.openlinksw.com associated with source document(s)

autosomal recessive disease characterized by immunodeficiency, rearrangements in the vicinity of the centromeres of chromosomes 1, 9, and 16 and facial anomalies in most cases

Attributes	Values
rdf:type	Item
description	autosomal recessive disease characterized by immunodeficiency, rearrangements in the vicinity of the centromeres of chromosomes 1, 9, and 16 and facial anomalies in most cases (en)
exact match	wds:Q42863536-4625FC53-7447-457C-B363-F7C11680D99D wds:Q42863536-B94F87F6-9652-45F4-8A82-1F33F399F601 wds:Q42863536-BF7378E0-C3E8-4075-9FC0-4569D81F5A1F
exact match	http://identifiers.org/doid/DOID:0090007 http://purl.obolibrary.org/obo/DOID_0090007 http://www.orpha.net/ORDO/Orphanet_2268
Disease Ontology ID	wds:Q42863536-4F5FA0D8-25DF-4828-912C-D442B9B9D871
Disease Ontology ID	http://purl.obolibrary.org/obo/DOID_DOID:0090007
Disease Ontology ID	DOID:0090007
rdfs:label	ICF syndrome (fr) immunodeficiency-centromeric instability-facial anomalies syndrome (en)
skos:prefLabel	ICF syndrome (fr) immunodeficiency-centromeric instability-facial anomalies syndrome (en)
name	ICF syndrome (fr) immunodeficiency-centromeric instability-facial anomalies syndrome (en)
instance of	wds:Q42863536-E20F0B54-8DF2-4330-93A6-6B026EB07728
instance of	class of disease
subclass of	wds:Q42863536-6C882C7C-C0C4-4423-AA84-566326E2D7AE wds:Q42863536-D748E13B-8EFF-4115-AA3D-E058C4A3040B wds:Q42863536-d1592c86-4060-75a8-2ae2-3ab3ac737897
subclass of	syndrome autosomal recessive disease DNA repair defect other than combined T-cell and B-cell immunodeficiencies
KEGG ID	wds:Q42863536-49687971-8FCA-4F76-A971-F6013A5BC4A8
KEGG ID	http://www.kegg.jp/entry/H02308
KEGG ID	H02308
Orphanet ID	wds:Q42863536-1CA94D6F-F619-4BD5-A4C8-BA83A7B49C17
genetic association	wds:Q42863536-079A69DD-7437-4D97-8E61-F375FCAB4D18 wds:Q42863536-3F73AB8A-026E-43FA-95C8-DA1DC852C6FC wds:Q42863536-6942C8C4-A32D-4838-A91F-2ACA0BA86468 wds:Q42863536-7B08AB92-4350-48F1-8780-1F13E93E3B8C
ICD-10-CM	wds:Q42863536-8F861C08-B89D-467D-BF74-BA13BDD67319
GARD rare disease ID	wds:Q42863536-E4CC993B-D309-4D94-BB11-FA0F0B557100
Orphanet ID	2268
genetic association	CDCA7 HELLS DNMT3B ZBTB24
ICD-10-CM	D84.8
GARD rare disease ID	2945
skos:altLabel	ICF syndrome (en)
on focus list of Wikimedia project	wds:Q42863536-885B8C2F-1A17-40F4-AACD-DFB0C99857C9
on focus list of Wikimedia project	WikiProject Medicine
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q42863536
is subclass of of	immunodeficiency-centromeric instability-facial anomalies syndrome 1 immunodeficiency-centromeric instability-facial anomalies syndrome 2 immunodeficiency-centromeric instability-facial anomalies syndrome 3 immunodeficiency-centromeric instability-facial anomalies syndrome 4
is subclass of of	wds:Q1869923-37549F0F-A853-4289-9DD9-90AE6F1A94DE wds:Q30988863-4AC2B793-9292-42B9-A67A-B06DCE8EE1C4 wds:Q30989362-902C7FBB-256D-416A-B76D-72C1E74BF41F wds:Q30989332-D2155E7A-EE93-454E-864D-C05A85D9A5EB
is main subject of	Variability of clinical and immunological phenotype in immunodeficiency-centromeric instability-facial anomalies syndrome. Report of two new patients and review of the literature Mutations in CDCA7 and HELLS cause immunodeficiency-centromeric instability-facial anomalies syndrome DNA methylation in disease: Immunodeficiency, Centromeric instability, Facial anomalies syndrome Corrigendum: Mutations in CDCA7 and HELLS cause immunodeficiency-centromeric instability-facial anomalies syndrome
is main subject of	wds:Q40928084-C875871C-0ACC-4C08-9BC7-6042569BFC32 wds:Q42189883-4262E8B4-10CF-499B-9901-75DF64E90B18 wds:Q91277008-27D6D6BA-ACC0-498B-A82D-26C63434386D wds:Q35902743-606D42AB-07DC-4FC2-ACE5-CDEEF5812987
is genetic association of	CDCA7 HELLS DNMT3B ZBTB24
is genetic association of	wds:Q18034722-193DC132-71E8-4164-8BC4-9F7A31E2474A wds:Q18047307-3DE77725-6595-473D-8100-6591DAB388C3 wds:Q18026868-77FD8F9B-353C-44B5-B25B-3C19952BA4C2 wds:Q15313456-384ACAE4-C29C-43EE-A1CB-5E5F0319A739

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