About: prolidase deficiency

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medical condition

Attributes	Values
rdf:type	Item
owl:sameAs	prolidase deficiency
description	medical condition (en) медичний стан (uk)
exact match	wds:Q7249599-0AF043D6-C2FC-47A8-95AD-3FE93D293F7E wds:Q7249599-558B98B7-3FCF-4F9D-8CAD-F2FE2FFB446F wds:Q7249599-A9933E3B-D793-42EC-831E-C39E131AD745
exact match	http://purl.obolibrary.org/obo/DOID_0111540 http://identifiers.org/doid/DOID:0111540 http://www.orpha.net/ORDO/Orphanet_742
health specialty	wds:Q7249599-0E277BD1-EDF7-4A6C-AF01-A9B52A46A983
Mondo ID	wds:Q7249599-47AB62A8-5702-4B31-98A8-E4DB48ECCD29
DiseasesDB	wds:Q7249599-CB69E9A9-5D27-4CEC-AF23-2641A4EEA604
Disease Ontology ID	wds:Q7249599-9EF27A62-5338-484C-BBF9-50766E791D8E
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0008221
Disease Ontology ID	http://purl.obolibrary.org/obo/DOID_DOID:0111540
health specialty	medical genetics
Mondo ID	MONDO_0008221
DiseasesDB	29838
Disease Ontology ID	DOID:0111540
rdfs:label	Nedostatak prolidaze (bs) déficit en prolidase (fr) prolidase deficiency (en)
skos:prefLabel	Nedostatak prolidaze (bs) déficit en prolidase (fr) prolidase deficiency (en)
name	Nedostatak prolidaze (bs) déficit en prolidase (fr) prolidase deficiency (en)
instance of	wds:Q7249599-0400D0C9-1625-42CC-9699-636178294B29 wds:Q7249599-915287F3-0363-4C6E-B442-FD88F4F1E397 wds:Q7249599-FAD479E7-07E0-4A0B-B0A6-FFF9F9371DB7
instance of	class of disease rare disease developmental defect during embryogenesis
subclass of	wds:Q7249599-042A0F08-BEBA-4EB0-B01D-EDC4D9A65E38 wds:Q7249599-1EC338F9-214A-4981-98DB-EED0740334F8 wds:Q7249599-258DF30E-EC89-447B-B39C-BDA6EDE864C3 wds:Q7249599-380ea994-4932-c123-938a-e86a9997c0ed wds:Q7249599-4739B51D-D688-4263-BD01-FF977D03BC49 wds:Q7249599-676261F1-71C4-4187-A574-C957A047388B wds:Q7249599-7ABD6C0D-74E1-4D1E-8DC8-C38B27638294 wds:Q7249599-8895A23A-37D8-400C-920A-185ED336A3F1 wds:Q7249599-CAFD20B8-B935-4D36-9D2A-12A4484BC642 wds:Q7249599-DDC638CF-6A78-482B-9D93-FBD16CAADC90
subclass of	congenital disorder of amino acid metabolism genetic skin vascular disorder amino acid metabolic disorder autosomal recessive disease neurometabolic disease genetic syndromic intellectual disability developmental anomaly of metabolic origin syndromic lymphedema metabolic skin disease inborn disorder of peptide metabolism
KEGG ID	wds:Q7249599-81727C3A-D516-400A-B9FA-712EBDE5B191
KEGG ID	http://www.kegg.jp/entry/H01119
KEGG ID	H01119
UniProt disease ID	wds:Q7249599-71cffc41-44f3-5011-1faa-f1bfcd7db0ef
Orphanet ID	wds:Q7249599-6168c040-4c84-4dcd-0e4f-1e32432890d5
genetic association	wds:Q7249599-8A56E292-2B3B-4E35-A89A-84724F9C1FB5
ICD-10-CM	wds:Q7249599-012B266F-5EC3-42F1-AC54-EDC1268137F6
GARD rare disease ID	wds:Q7249599-49EE54A5-7C26-4AF7-A3D0-42788EC6F600
OMIM ID	wds:q7249599-A692D36C-9FAA-49D5-AF92-FD62661CA36F
Genetics Home Reference Conditions ID	wds:Q7249599-450130A0-F1BE-4E02-8D1B-20746D53F239
UniProt disease ID	DI-02218
Orphanet ID	742
genetic association	PEPD
ICD-10-CM	E72.8
GARD rare disease ID	7473
OMIM ID	170100
Genetics Home Reference Conditions ID	prolidase-deficiency
skos:altLabel	Hyperimidodipeptiduria (en) Hyperimidodipeptidurie (fr) PROLIDASE DEFICIENCY (en)
NCI Thesaurus ID	wds:Q7249599-afedaa68-41d6-364f-ba74-81bbe13cd954
UMLS CUI	wds:Q7249599-8D5293A0-F08C-4F1A-98ED-09A030B9C822 wds:Q7249599-BDB4F024-859E-4A50-A3C3-11ED43B73C87
MeSH descriptor ID	wds:Q7249599-3d31aeff-4d64-62ff-2f82-c321b5631275
Microsoft Academic ID	wds:Q7249599-A445DA84-DA28-4469-8ABB-20F95B4DA057
MeSH tree code	wds:Q7249599-3D4A95AA-B9BD-434B-905F-94D6358CD91C wds:Q7249599-50FB7AC2-E028-4115-AE8F-4CCF9BA7F773 wds:Q7249599-5C12D910-D5DA-430B-AFA8-083BF969112B wds:Q7249599-AF42B41A-0E98-4C06-9290-B68AC08F4D03
ICD-11 ID (MMS)	wds:Q7249599-EC1BDDE3-0237-41A6-BD0B-FC3C622312EF
ICD-11 (foundation)	wds:Q7249599-B602D5C4-F36D-4EE7-9D3E-464EE769DEFE
MeSH descriptor ID	http://id.nlm.nih.gov/mesh/D056732
Microsoft Academic ID	https://makg.org/entity/2780363423
MeSH tree code	http://id.nlm.nih.gov/mesh/C16.131.077.735 http://id.nlm.nih.gov/mesh/C16.131.831.720 http://id.nlm.nih.gov/mesh/C16.320.565.100.794 http://id.nlm.nih.gov/mesh/C16.320.850.746
NCI Thesaurus ID	C85029
UMLS CUI	C0268532 C1534653
MeSH descriptor ID	D056732
Microsoft Academic ID	2780363423
MeSH tree code	C16.131.077.735 C16.131.831.720 C16.320.565.100.794

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