About: homocystinuria

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About: homocystinuria Goto Sponge NotDistinct Permalink

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amino acid metabolic disorder that involves an accumulation of homocysteine in the serum and an increased excretion of homocysteine in the urine

Attributes	Values
rdf:type	Item
owl:sameAs	homocystinuria
description	Krankheit (de) хвороба (uk) 一種遺傳疾病 (zh-hant) qon va siydikda gomosistein va metionin aminokislotalarining miqdori ortishi (uz-cyrl) Genetic disorder (en-us) Qon va siydikda gomosistein va metionin aminokislotalarining miqdori ortishi (uz) amino acid metabolic disorder that involves an accumulation of homocysteine in the serum and an increased excretion of homocysteine in the urine (en) malattia rara, dovuta a un errore congenito del metabolismo (it) uwarunkowana genetycznie choroba metaboliczna (metionina) (pl)
exact match	wds:Q994859-2D89A5CB-4955-44D6-BBF8-352EFCA079E3 wds:Q994859-77804E6E-FE0B-4699-9E7A-5A7417891E92 wds:Q994859-901BCD9B-4787-49C4-BC0D-FB61559B6CCF wds:Q994859-A0001FC6-8BDE-4EC1-8F3F-534B8D65462A
exact match	http://purl.obolibrary.org/obo/DOID_9263 http://purl.obolibrary.org/obo/HP_0002156 http://identifiers.org/doid/DOID:9263 http://www.orpha.net/ORDO/Orphanet_394
health specialty	wds:Q994859-5942F03B-9B71-487A-B329-486DF02FA05F wds:Q994859-da05a833-4d30-af55-43c8-28f2b368909d
drug or therapy used for treatment	wds:Q994859-28C5CDA7-B9E1-493A-8163-C1F066178945
Mondo ID	wds:Q994859-389A0FF1-377C-4193-928B-77C420642181
DiseasesDB	wds:q994859-AD061EEA-3AA5-4501-80A3-BB3FEC1A219F
Disease Ontology ID	wds:Q994859-106472FC-D0EF-4814-A20B-7B1EEF14FA25
NHS Health A to Z ID	wds:Q994859-630F8B39-EEB0-4424-A7BB-9F3B7CF38723
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0004737
Disease Ontology ID	http://purl.obolibrary.org/obo/DOID_DOID:9263
health specialty	endocrinology medical genetics
drug or therapy used for treatment	betaine
Mondo ID	MONDO_0004737
DiseasesDB	5991
Disease Ontology ID	DOID:9263
NHS Health A to Z ID	homocystinuria
rdfs:label	Homocystinurie (de) Gomosisteinemiya (uz-cyrl) Gomosistinuriya (uz) Homocistinurija (bs) Homocistinurija (lt) Homocystinuria (en-us) Homocystinuria (rup) Homokystinuria (fi) Homosistinuriya (az) Homozistinuria (eu) homocistinuria (es) homocistinúria (ca) homocistinúria (pt) homocystinuri (nn) homocystinuri (sv) homocystinuria (en) homocystinurie (cs) homocystinurie (fr) homocystinurie (nl) homocystynuria (pl) omocistinuria (it) Гомоцистинурия (tt) Хомоцистинурија (mk) הומוציסטינוריה (he) بيلة هوموسيستينية (ar) هموسیستینوری (fa) ホモシスチン尿症 (ja) 高胱胺酸尿症 (zh) 호모시스틴뇨증 (ko)
skos:prefLabel	Homocystinurie (de) Gomosisteinemiya (uz-cyrl) Gomosistinuriya (uz) Homocistinurija (bs) Homocistinurija (lt) Homocystinuria (en-us) Homocystinuria (rup) Homokystinuria (fi) Homosistinuriya (az) Homozistinuria (eu) homocistinuria (es) homocistinúria (ca) homocistinúria (pt) homocystinuri (nn) homocystinuri (sv) homocystinuria (en) homocystinurie (cs) homocystinurie (fr) homocystinurie (nl) homocystynuria (pl) omocistinuria (it) Гомоцистинурия (tt) Хомоцистинурија (mk) הומוציסטינוריה (he) بيلة هوموسيستينية (ar) هموسیستینوری (fa) ホモシスチン尿症 (ja) 高胱胺酸尿症 (zh) 호모시스틴뇨증 (ko)
name	Homocystinurie (de) Gomosisteinemiya (uz-cyrl) Gomosistinuriya (uz) Homocistinurija (bs) Homocistinurija (lt) Homocystinuria (en-us) Homocystinuria (rup)

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