About: congenital nonspherocytic hemolytic anemia

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Human disease

Attributes	Values
rdf:type	Item
description	Krankheit (de) Human disease (en) хвороба людини (uk) مرض يصيب الإنسان (ar)
exact match	wds:Q18555220-A0FBDC64-8A9F-4CCA-8860-072C71755DC0 wds:Q18555220-ADE7778C-814D-4FF1-8D7D-13BAF92A5C80 wds:Q18555220-EDC02A2D-66B1-488D-BBBD-847FD5688CEF
exact match	http://purl.obolibrary.org/obo/DOID_2861 http://identifiers.org/doid/DOID:2861 http://www.orpha.net/ORDO/Orphanet_712
Experimental Factor Ontology ID	wds:Q18555220-665FAA8A-362F-4A3D-A511-7CC6BC26E70B
health specialty	wds:Q18555220-5557AAB1-F4E4-4868-B5B5-398388ADA311 wds:Q18555220-BD4AA41E-5BF3-4ACB-AFAC-A4E8CCDDB258
Mondo ID	wds:Q18555220-D27E79DB-ED02-430D-ADBA-79F365710E24
Disease Ontology ID	wds:Q18555220-807D7406-C9B1-4464-AB24-8B77338CFD79
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0013275
Disease Ontology ID	http://purl.obolibrary.org/obo/DOID_DOID:2861
Experimental Factor Ontology ID	1000641
health specialty	medical genetics hematology
Mondo ID	MONDO_0013275
Disease Ontology ID	DOID:2861
rdfs:label	congenital nonspherocytic hemolytic anemia (en) anémie hémolytique congénitale non sphérocytaire (fr)
skos:prefLabel	congenital nonspherocytic hemolytic anemia (en) anémie hémolytique congénitale non sphérocytaire (fr)
name	congenital nonspherocytic hemolytic anemia (en) anémie hémolytique congénitale non sphérocytaire (fr)
instance of	wds:Q18555220-ABD8E3ED-2371-447C-93A3-90CAF4C02159 wds:Q18555220-D464EC97-1D7B-4F20-A2D5-C1B19D144EF3
instance of	class of disease rare disease
subclass of	wds:Q18555220-913FE280-046D-4EE0-9055-4D40E270E765 wds:Q18555220-DD5CDA42-4C7B-46EA-8BAE-5ECBA3A75714 wds:Q18555220-FA1AA65F-BAE4-4CFC-A3BB-CED61609962D
subclass of	congenital hemolytic anemia disorder of glycolysis hemolytic anemia due to a disorder of glycolytic enzymes
Orphanet ID	wds:Q18555220-7085F0A7-0962-46CA-B53A-9A7957A1CA52
genetic association	wds:Q18555220-70ED4BB5-9EEC-478D-8A4F-0E142022D3D7 wds:Q18555220-C52B9CAE-B619-41D8-B25E-1A8C30499A3B
ICD-10-CM	wds:Q18555220-0E740DA1-8649-4DDD-B4BA-E7A6FA15C773
OMIM ID	wds:Q18555220-0119FFEA-7BA9-499E-98C2-85FAEA447E31 wds:Q18555220-01825E8B-3C37-4DE0-8E25-1C966C2183B2 wds:Q18555220-14D2AB4F-B284-41B5-8B4F-4AA511E7FF6A wds:Q18555220-FAF034D1-A3B9-4F70-8834-DE5E79D9083C
Orphanet ID	712
genetic association	GPI G6PD
ICD-10-CM	D55.2
OMIM ID	206300 206400 300908 613470
skos:altLabel	HNSHA (en) HNSHA (disorder) (en) Hereditary nonspherocytic hemolytic anemia (disorder) (en) hereditary nonspherocytic hemolytic anemia (en) Congenital nonspherocytic hemolytic anemia (disorder) [Ambiguous] (en) HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY (en)
UMLS CUI	wds:Q18555220-03E1140F-4C44-4889-9CD5-D3492FA42251 wds:Q18555220-23A4A7FC-3ADC-4B0A-814A-E2E01069FB66 wds:Q18555220-CA0465EF-F8D2-4562-AFB6-FB3F05A3C310
MeSH descriptor ID	wds:Q18555220-B002F95F-02EB-4653-B8F1-E65924219638
on focus list of Wikimedia project	wds:Q18555220-1F8DAC28-7F08-4536-8CE3-750C359BD08F
MeSH tree code	wds:Q18555220-3BBE6A87-7362-4BE7-9E5D-D7C87ACBB5EE wds:Q18555220-6888470C-7F36-4928-B19D-270D2EDAA770
MeSH descriptor ID	http://id.nlm.nih.gov/mesh/D000746
MeSH tree code	http://id.nlm.nih.gov/mesh/C15.378.071.141.150.100 http://id.nlm.nih.gov/mesh/C16.320.070.100
UMLS CUI	C0002882 C3150730 C5680791
MeSH descriptor ID	D000746
on focus list of Wikimedia project	WikiProject Medicine
MeSH tree code	C15.378.071.141.150.100 C16.320.070.100
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q18555220
is subclass of of	pyruvate kinase deficiency Heinz body anemia Crosby's syndrome
is subclass of of	wds:Q55780855-E011FEE7-A7D8-4ABE-B497-59857FD5519D wds:Q29014939-5F2166C4-1345-47FD-9671-8B0C02E7E02C wds:Q3043149-23A28842-D6AE-490F-976D-0BC47FA3C575
is main subject of	Congenital nonspherocytic hemolytic anemia Congenital nonspherocytic hemolytic anemia, associated with glutathione deficiency of the erythrocytes. Hematologic, biochemical and genetic studies Metabolic abnormalities of erythrocytes from patients with congenital nonspherocytic hemolytic anemia Congenital nonspherocytic hemolytic anemia associated with erythrocyte glucose-6-phosphate dehydrogenase deficiency in a Negro family Erythrocyte pyruvate kinase deficiency: 2015 status report Glucose phosphate isomerase deficiency with congenital nonspherocytic hemolytic anemia ERYTHROCYTE PYRUVATE KINASE DEFICIENCY RESULTING IN CONGENITAL NONSPHEROCYTIC HEMOLYTIC ANEMIA Congenital nonspherocytic hemolytic anemia associated with glucosephosphate isomerase deficiency: variant Paderborn Congenital nonspherocytic hemolytic anemia associated with an unusual erythrocyte hexokinase abnormality CONGENITAL NONSPHEROCYTIC HEMOLYTIC ANEMIA IN FAMILIAL DPNH AND TPNH-DEPENDENT GLUTATHIONE REDUCTASE DEFICIENCY OF THE ERYTHROCYTES. I G6PD San Francisco: a new variant of glucose-6-phosphate dehydrogenase associated with congenital nonspherocytic hemolytic anemia On a rare form of glucose-6-phosphate dehydrogenase deficiency with congenital nonspherocytic hemolytic anemia [Congenital nonspherocytic hemolytic anemia, cataract and glucose-6-phosphate dehydrogenase deficiency] Disorders in the metabolism of erythrocytes in a case of congenital nonspherocytic hemolytic anemia with glucose-6-phosphate dehydrogenase deficiency HEMOCHROMATOSIS AND CONGENITAL NONSPHEROCYTIC HEMOLYTIC ANEMIA IN SIBLINGS

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