Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 - COMBINED D-2- AND L-2-HYDROXYGLUTARIC ACIDURIA - Classes | BMICC MedPortal Appliance

Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库

Last uploaded: September 7, 2023

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Preferred Name	COMBINED D-2- AND L-2-HYDROXYGLUTARIC ACIDURIA
Synonyms	D2L2AD
ID	http://purl.bioontology.org/ontology/OMIM/615182
altLabel	D2L2AD
cui	C5574940
Gene Locus	22q11
Gene Symbol	CTP D2L2AD SLC25A1 SLC20A3 CMS23
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU002153 http://purl.bioontology.org/ontology/OMIM/MTHU030468 http://purl.bioontology.org/ontology/OMIM/MTHU007130 http://purl.bioontology.org/ontology/OMIM/MTHU037241 http://purl.bioontology.org/ontology/OMIM/MTHU000269 http://purl.bioontology.org/ontology/OMIM/MTHU041104 http://purl.bioontology.org/ontology/OMIM/MTHU041102 http://purl.bioontology.org/ontology/OMIM/MTHU041100 http://purl.bioontology.org/ontology/OMIM/MTHU003333 http://purl.bioontology.org/ontology/OMIM/MTHU001677 http://purl.bioontology.org/ontology/OMIM/MTHU001330 http://purl.bioontology.org/ontology/OMIM/MTHU036371 http://purl.bioontology.org/ontology/OMIM/MTHU007279 http://purl.bioontology.org/ontology/OMIM/MTHU000242 http://purl.bioontology.org/ontology/OMIM/MTHU000780 http://purl.bioontology.org/ontology/OMIM/MTHU006361 http://purl.bioontology.org/ontology/OMIM/MTHU000730 http://purl.bioontology.org/ontology/OMIM/MTHU036340 http://purl.bioontology.org/ontology/OMIM/MTHU041101 http://purl.bioontology.org/ontology/OMIM/MTHU004589 http://purl.bioontology.org/ontology/OMIM/MTHU041105 http://purl.bioontology.org/ontology/OMIM/MTHU041103 http://purl.bioontology.org/ontology/OMIM/MTHU037278 http://purl.bioontology.org/ontology/OMIM/MTHU037132
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	615182
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	COMBINED D-2- AND L-2-HYDROXYGLUTARIC ACIDURIA
Scope Statement	Onset in the neonatal period [MISCELLANEOUS] Caused by mutation in the solute carrier family 25 (mitochondrial citrate transporter), member 1 gene (SLC25A1, 190315.0001) [MOLECULAR BASIS] Death by age 3 years [MISCELLANEOUS]
tui	T047

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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/MESH/C535306	Medical Subject Headings / 医学主题词表	CUI
	http://purl.obolibrary.org/obo/DOID_0111619	Human Disease Ontology / 人类疾病本体	LOOM