About: Hemochromatosis type 4

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About: Hemochromatosis type 4 Goto Sponge NotDistinct Permalink

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

hemochromatosis that has material basis in heterozygous mutation in the SLC40A1 gene on chromosome 2q32

Attributes	Values
rdf:type	Item
owl:sameAs	Hemochromatosis type 4
description	hemochromatosis that has material basis in heterozygous mutation in the SLC40A1 gene on chromosome 2q32 (en)
exact match	wds:Q28448698-10DF4351-C38B-466F-89DA-897EF0A159A8 wds:Q28448698-5CBF91E8-3DAB-402B-B9BA-A3B5A6795539 wds:Q28448698-A2C88B1F-D08B-40EA-9E6B-52EAB237DF2B
exact match	http://identifiers.org/doid/DOID:0111028 http://www.orpha.net/ORDO/Orphanet_139491 http://purl.obolibrary.org/obo/DOID_0111028
Mondo ID	wds:Q28448698-95EDD0FD-6FC6-4170-97D3-4BFF4E2F8B30
Disease Ontology ID	wds:Q28448698-3CDBD5A6-484E-4DCE-A005-743F2C362E34
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0011631
Disease Ontology ID	http://purl.obolibrary.org/obo/DOID_DOID:0111028
Mondo ID	MONDO_0011631
Disease Ontology ID	DOID:0111028
rdfs:label	داء ترسب الأصبغة الدموية من النوع 4 (ar) Hemochromatosis type 4 (en) Hemohromatoza tip 4 (bs) hémochromatose type 4 (fr)
skos:prefLabel	داء ترسب الأصبغة الدموية من النوع 4 (ar) Hemochromatosis type 4 (en) Hemohromatoza tip 4 (bs) hémochromatose type 4 (fr)
name	داء ترسب الأصبغة الدموية من النوع 4 (ar) Hemochromatosis type 4 (en) Hemohromatoza tip 4 (bs) hémochromatose type 4 (fr)
instance of	wds:Q28448698-6EE7E6FA-6B72-484B-BA4F-8659B75199CD wds:Q28448698-F7B848FA-D578-4DB4-9A83-8E38592FB895
instance of	class of disease rare disease
subclass of	wds:Q28448698-2D71E3B7-273E-4E2C-ACC4-278741D04887 wds:Q28448698-9CE0B432-9EFD-4D8B-AB9C-C022B7B80179 wds:Q28448698-c85b5761-42a1-a133-0d8c-08d24e6911b1
subclass of	genetic disease iron overload HFE hereditary haemochromatosis
UniProt disease ID	wds:Q28448698-b6e1faf3-4e44-ff8b-4fbe-fbe20206f06d
Orphanet ID	wds:Q28448698-36C91E97-71AF-4657-B424-EEFFCA16F860
genetic association	wds:Q28448698-3EB7C7FB-BCAE-432A-AD6B-D2A8CE8B1513
ICD-10-CM	wds:Q28448698-27A0EC4C-D4FE-4400-8E68-A4EC5C38E6FA
GARD rare disease ID	wds:Q28448698-EBEB242D-88E4-45B9-8DB8-38CE23B8F1BB
OMIM ID	wds:Q28448698-521A0FFF-2B81-4DD2-B2C8-78775F2F781E
UniProt disease ID	DI-01701
Orphanet ID	139491
genetic association	SLC40A1
ICD-10-CM	E83.1
GARD rare disease ID	10094
OMIM ID	606069
skos:altLabel	HFE4 (en) HEMOCHROMATOSIS, TYPE 4 (en) HEMOCHROMATOSIS, TYPE 4; HFE4 (en) Hemochromatosis Due to Defect 1N Ferroportin (en) Hemochromatosis, Autosomal Dominant (en) autosomal dominant hereditary hemochromatosis (en) ferroportin disease (en) hemochromatosis due to defect in ferroportin (en) hemochromatosis type 4 (en)
UMLS CUI	wds:Q28448698-25340C88-5DB7-4748-AF77-5DF97B3E9AB2
MeSH descriptor ID	wds:Q28448698-12E50852-84F2-40D6-A2A6-6F38B7A72917 wds:Q28448698-D7F974B8-23C1-4D2D-93F0-01D6870F0D08
on focus list of Wikimedia project	wds:Q28448698-1B33F21E-B7D7-4838-9BD7-FDF5A748B86F
MeSH descriptor ID	http://id.nlm.nih.gov/mesh/C537249
UMLS CUI	C1853733
MeSH descriptor ID	C537249
on focus list of Wikimedia project	WikiProject Medicine
WikiProjectMed ID	wds:Q28448698-069EE579-4B72-4341-9E8E-1A618FB32BFB
WikiProjectMed ID	Hemochromatosis type 4
is owl:sameAs of	Hemochromatosis type 4
is about of	Hemochromatosis type 4 https://www.wikidata.org/wiki/Special:EntityData/Q28448698 Hemochromatosis type 4 https://ar.wikipedia.org/wiki/%D8%AF%D8%A7%D8%A1_%D8%AA%D8%B1%D8%B3%D8%A8_%D8%A7%D9%84%D8%A3%D8%B5%D8%A8%D8%BA%D8%A9_%D8%A7%D9%84%D8%AF%D9%85%D9%88%D9%8A%D8%A9_%D9%85%D9%86_%D8%A7%D9%84%D9%86%D9%88%D8%B9_4 https://bs.wikipedia.org/wiki/Hemohromatoza_tip_4
is main subject of	Comprehensive functional annotation of 18 missense mutations found in suspected hemochromatosis type 4 patients Structure-function analysis of the human ferroportin iron exporter (SLC40A1): effect of hemochromatosis type 4 disease mutations and identification of critical residues. A Novel Phenotype of a Hereditary Hemochromatosis Type 4 with Ferroportin-1 Mutation, Presenting with Juvenile Cataracts Analysis of the Modulation of Serum Hepcidin Level in Response to Iron Oral Intake: Potential Interest for the Differential Diagnosis Between Ferroportin Disease and Dysmetabolic Hepatosiderosis. Splicing analysis of SLC40A1 missense variations and contribution to hemochromatosis type 4 phenotypes [Family with marked hyperferritinemia as a result of hemochromatosis type 4 (ferroportin disease)] Deciphering the molecular basis of ferroportin resistance to hepcidin: Structure/function analysis of rare SLC40A1 missense mutations found in suspected hemochromatosis type 4 patients.
is main subject of	wds:Q34414345-BB0B5FF4-AD24-4C87-B2F4-749412DD05C2 wds:Q40088763-E29D2917-C946-449E-9C70-405008E1D2BD wds:Q64354169-C41CE8B0-0A54-460F-908B-7DBD40A8F8D8 wds:Q104505098-DFE64445-0D86-4DBE-94E1-32CC6D0920B2 wds:Q85268439-75245044-66F0-41F5-B7EB-71F6C17AD8C0 wds:Q38368101-4D8226BC-0127-492E-890F-F81BEDD9226D wds:Q39137463-A8E72B3F-76EE-4595-94DF-0F7201AC11EC
is genetic association of	SLC40A1
is genetic association of	wds:Q14878806-B006ACEB-69B4-4553-88E1-0B6FF93AF2A7

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