Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Aciduria (HP:0012072)

Parent Node:
Abnormal circulating carboxylic acid concentration (HP:0004354)

Parent Node:
Organic aciduria (HP:0001992)

..Starting node
..Elevated urinary carboxylic acid (HP:0040156)

Term ID:

40156

Name:

Elevated urinary carboxylic acid

Synonym:

Definition:

An increased amount of carboxylic acid in the urine.

Comments:

Reference:

HP:0040156

Genes and Diseases:

Child Nodes:

........

4-Hydroxyphenylpyruvic aciduria (HP:0003161)

........

4-Hydroxyphenylacetic aciduria (HP:0003607)

........

Elevated urinary homovanillic acid (HP:0011977)

........

Elevated urinary vanillylmandelic acid (HP:0011978)

........

Urocanic aciduria (HP:0012237)

........

Elevated urinary 3-hydroxybutyric acid (HP:0040155)

Sister Nodes:

Complex organic aciduria (HP:0008336)

Dicarboxylic aciduria (HP:0003215)

Hyperoxaluria (HP:0003159)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0040156	HP:0040156	Elevated urinary carboxylic acid	0	ABCD4 CL E G H	5826	68	OMIM:614857	Methylmalonic aciduria and homocystinuria, Cblj type		53
HP:0040156	HP:0040156	Elevated urinary carboxylic acid	0	ACAD8 CL E G H	27034	87	ORPHA:79159	Isobutyryl-CoA dehydrogenase deficiency		58
HP:0040156	HP:0040156	Elevated urinary carboxylic acid	0	ACAD9 CL E G H	28976	21497	ORPHA:99901	Acyl-CoA dehydrogenase 9 deficiency		98
HP:0040156	HP:0040156	Elevated urinary carboxylic acid	0	ACAD9 CL E G H	28976	21497	OMIM:611126	Mitochondrial complex I deficiency due to acad9 deficiency		98
HP:0040156	HP:0040156	Elevated urinary carboxylic acid	0	ACADM CL E G H	34	89	OMIM:201450	Acyl-Coa dehydrogenase, medium-chain, deficiency of		197
HP:0040156	HP:0040156	Elevated urinary carboxylic acid	0	ACADM CL E G H	34	89	ORPHA:42	Medium chain acyl-CoA dehydrogenase deficiency		197
HP:0040156	HP:0040156	Elevated urinary carboxylic acid	0	ACADS CL E G H	35	90	OMIM:201470	Acyl-Coa dehydrogenase, short-chain, deficiency of		90
HP:0040156	HP:0040156	Elevated urinary carboxylic acid	0	ACADS CL E G H	35	90	ORPHA:26792	Short chain acyl-CoA dehydrogenase deficiency		90
HP:0040156	HP:0040156	Elevated urinary carboxylic acid	0	ACADVL CL E G H	37	92	OMIM:201475	Very long-chain acyl-CoA dehydrogenase deficiency		200
HP:0040156	HP:0040156	Elevated urinary carboxylic acid	0	ACSF3 CL E G H	197322	27288	ORPHA:289504	Combined malonic and methylmalonic acidemia		68
HP:0040156	HP:0040156	Elevated urinary carboxylic acid	0	ACSF3 CL E G H	197322	27288	OMIM:614265	Combined malonic and methylmalonic aciduria		68
HP:0040156	HP:0040156	Elevated urinary carboxylic acid	0	ALAD CL E G H	210	395	ORPHA:100924	Porphyria due to ALA dehydratase deficiency		62
HP:0040156	HP:0040156	Elevated urinary carboxylic acid	0	ALDH5A1 CL E G H	7915	408	OMIM:271980	Succinic semialdehyde dehydrogenase deficiency		108
HP:0040156	HP:0040156	Elevated urinary carboxylic acid	0	CD320 CL E G H	51293	16692	OMIM:613646	METHYLMALONIC ACIDURIA, TRANSIENT, DUE TO TRANSCOBALAMIN RECEPTOR DEFECT		16
HP:0040156	HP:0040156	Elevated urinary carboxylic acid	0	COX16 CL E G H	51241	20213	OMIM:619355	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22; MC4DN22
HP:0040156	HP:0040156	Elevated urinary carboxylic acid	0	CPOX CL E G H	1371	2321	OMIM:121300	Coproporphyria		72
HP:0040156	HP:0040156	Elevated urinary carboxylic acid	0	CPOX CL E G H	1371	2321	OMIM:618892	Harderoporphyria		72
HP:0040156	HP:0040156	Elevated urinary carboxylic acid	0	CPOX CL E G H	1371	2321	ORPHA:79273	Hereditary coproporphyria		72
HP:0040156	HP:0040156	Elevated urinary carboxylic acid	0	CPT2 CL E G H	1376	2330	ORPHA:228308	Carnitine palmitoyl transferase II deficiency, neonatal form		101
HP:0040156	HP:0040156	Elevated urinary carboxylic acid	0	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal		101
HP:0040156	HP:0040156	Elevated urinary carboxylic acid	0	D2HGDH CL E G H	728294	28358	OMIM:600721	D-2-Hydroxyglutaric aciduria 1		102
HP:0040156	HP:0040156	Elevated urinary carboxylic acid	0	DHTKD1 CL E G H	55526	23537	OMIM:204750	2-AMINOADIPIC 2-OXOADIPIC ACIDURIA; AMOXAD		12
HP:0040156	HP:0040156	Elevated urinary carboxylic acid	0	DNAJC19 CL E G H	131118	30528	OMIM:610198	3-@methylglutaconic aciduria, type V		25
HP:0040156	HP:0040156	Elevated urinary carboxylic acid	0	ETFA CL E G H	2108	3481	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency		37
HP:0040156	HP:0040156	Elevated urinary carboxylic acid	0	ETFB CL E G H	2109	3482	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency		27
HP:0040156	HP:0040156	Elevated urinary carboxylic acid	0	ETFDH CL E G H	2110	3483	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency		77
HP:0040156	HP:0040156	Elevated urinary carboxylic acid	0	ETHE1 CL E G H	23474	23287	OMIM:602473	Encephalopathy, ethylmalonic		42
HP:0040156	HP:0040156	Elevated urinary carboxylic acid	0	ETHE1 CL E G H	23474	23287	ORPHA:51188	Ethylmalonic encephalopathy		42
HP:0040156	HP:0040156	Elevated urinary carboxylic acid	0	FOCAD CL E G H	54914	23377	OMIM:619991			3
HP:0040156	HP:0040156	Elevated urinary carboxylic acid	0	GATA1 CL E G H	2623	4170	ORPHA:79277	Congenital erythropoietic porphyria		29
HP:0040156	HP:0040156	Elevated urinary carboxylic acid	0	GCDH CL E G H	2639	4189	OMIM:231670	Glutaric acidemia I		115
HP:0040156	HP:0040156	Elevated urinary carboxylic acid	0	GCDH CL E G H	2639	4189	ORPHA:25	Glutaryl-CoA dehydrogenase deficiency		115
HP:0040156	HP:0040156	Elevated urinary carboxylic acid	0	HADH CL E G H	3033	4799	OMIM:231530	3-Hydroxyacyl-Coa dehydrogenase deficiency		41
HP:0040156	HP:0040156	Elevated urinary carboxylic acid	0	HADH CL E G H	3033	4799	ORPHA:71212	Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency		41
HP:0040156	HP:0040156	Elevated urinary carboxylic acid	0	HCFC1 CL E G H	3054	4839	OMIM:309541	Methylmalonic acidemia and homocysteinemia, Cblx type		100
HP:0040156	HP:0040156	Elevated urinary carboxylic acid	0	HFE CL E G H	3077	4886	OMIM:176200	Porphyria variegata		38
HP:0040156	HP:0040156	Elevated urinary carboxylic acid	0	HGD CL E G H	3081	4892	OMIM:203500	Alkaptonuria		77
HP:0040156	HP:0040156	Elevated urinary carboxylic acid	0	HMBS CL E G H	3145	4982	ORPHA:79276	Acute intermittent porphyria		81
HP:0040156	HP:0040156	Elevated urinary carboxylic acid	0	HMGCL CL E G H	3155	5005	OMIM:246450	3-Hydroxy-3-Methylglutaryl-Coa lyase deficiency		35
HP:0040156	HP:0040156	Elevated urinary carboxylic acid	0	HPD CL E G H	3242	5147	ORPHA:2118	Hawkinsinuria		23
HP:0040156	HP:0040156	Elevated urinary carboxylic acid	0	HPD CL E G H	3242	5147	OMIM:140350	HAWKINSINURIA		23
HP:0040156	HP:0040156	Elevated urinary carboxylic acid	0	HPD CL E G H	3242	5147	OMIM:276710	Tyrosinemia, type III		23
HP:0040156	HP:0040156	Elevated urinary carboxylic acid	0	IDH1 CL E G H	3417	5382	ORPHA:99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria		15
HP:0040156	HP:0040156	Elevated urinary carboxylic acid	0	IDH2 CL E G H	3418	5383	OMIM:613657	D-2-hydroxyglutaric aciduria 2		29
HP:0040156	HP:0040156	Elevated urinary carboxylic acid	0	KIF1B CL E G H	23095	16636	OMIM:256700	Neuroblastoma, susceptibility to		202
HP:0040156	HP:0040156	Elevated urinary carboxylic acid	0	L2HGDH CL E G H	79944	20499	OMIM:236792	L-2-Hydroxyglutaric aciduria		34
HP:0040156	HP:0040156	Elevated urinary carboxylic acid	0	LETM1 CL E G H	3954	6556	OMIM:620089			2
HP:0040156	HP:0040156	Elevated urinary carboxylic acid	0	LMBRD1 CL E G H	55788	23038	ORPHA:79284	Methylmalonic acidemia with homocystinuria type cblF		46
HP:0040156	HP:0040156	Elevated urinary carboxylic acid	0	LMBRD1 CL E G H	55788	23038	OMIM:277380	Methylmalonic aciduria and homocystinuria, Cblf type		46
HP:0040156	HP:0040156	Elevated urinary carboxylic acid	0	MCCC1 CL E G H	56922	6936	OMIM:210200	3-Methylcrotonyl-CoA carboxylase 1 deficiency		81
HP:0040156	HP:0040156	Elevated urinary carboxylic acid	0	MCEE CL E G H	84693	16732	OMIM:251120	Methylmalonyl-Coa epimerase deficiency		19
HP:0040156	HP:0040156	Elevated urinary carboxylic acid	0	MLYCD CL E G H	23417	7150	OMIM:248360	Malonyl-CoA decarboxylase deficiency		80
HP:0040156	HP:0040156	Elevated urinary carboxylic acid	0	MMAA CL E G H	166785	18871	OMIM:251100	Methylmalonic aciduria, Cbla type		113
HP:0040156	HP:0040156	Elevated urinary carboxylic acid	0	MMAB CL E G H	326625	19331	OMIM:251110	Methylmalonic aciduria, Cblb type		127
HP:0040156	HP:0040156	Elevated urinary carboxylic acid	0	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC		101
HP:0040156	HP:0040156	Elevated urinary carboxylic acid	0	MMACHC CL E G H	25974	24525	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type		101
HP:0040156	HP:0040156	Elevated urinary carboxylic acid	0	MMADHC CL E G H	27249	25221	OMIM:277410	Methylmalonic aciduria and homocystinuria, Cbld type		50
HP:0040156	HP:0040156	Elevated urinary carboxylic acid	0	MMUT CL E G H	4594	7526	OMIM:251000	Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency
HP:0040156	HP:0040156	Elevated urinary carboxylic acid	0	MVK CL E G H	4598	7530	OMIM:260920	Hyper-Igd syndrome		150
HP:0040156	HP:0040156	Elevated urinary carboxylic acid	0	MVK CL E G H	4598	7530	OMIM:610377	Mevalonic aciduria		150
HP:0040156	HP:0040156	Elevated urinary carboxylic acid	0	NDUFB10 CL E G H	4716	7696	OMIM:619003	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 35; MC1DN35
HP:0040156	HP:0040156	Elevated urinary carboxylic acid	0	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1		27
HP:0040156	HP:0040156	Elevated urinary carboxylic acid	0	NFU1 CL E G H	27247	16287	OMIM:605711	Multiple mitochondrial dysfunctions syndrome 1		34
HP:0040156	HP:0040156	Elevated urinary carboxylic acid	0	OXCT1 CL E G H	5019	8527	OMIM:245050	Succinyl CoA:3-oxoacid CoA transferase deficiency		52
HP:0040156	HP:0040156	Elevated urinary carboxylic acid	0	POLG CL E G H	5428	9179	OMIM:203700	Mitochondrial DNA depletion syndrome 4A (Alpers type)		464
HP:0040156	HP:0040156	Elevated urinary carboxylic acid	0	PPOX CL E G H	5498	9280	ORPHA:79473	Porphyria variegata		41
HP:0040156	HP:0040156	Elevated urinary carboxylic acid	0	PPOX CL E G H	5498	9280	OMIM:176200	Porphyria variegata		41
HP:0040156	HP:0040156	Elevated urinary carboxylic acid	0	PRDX1 CL E G H	5052	9352	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type
HP:0040156	HP:0040156	Elevated urinary carboxylic acid	0	RET CL E G H	5979	9967	OMIM:171400	Multiple endocrine neoplasia, type IIA		572
HP:0040156	HP:0040156	Elevated urinary carboxylic acid	0	SCO1 CL E G H	6341	10603	OMIM:619048	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 4; MC4DN4		46
HP:0040156	HP:0040156	Elevated urinary carboxylic acid	0	SLC13A3 CL E G H	64849	14430	OMIM:618384	Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate		2
HP:0040156	HP:0040156	Elevated urinary carboxylic acid	0	SLC18A2 CL E G H	6571	10935	OMIM:618049	Parkinsonism-Dystonia, infantile, 2		2
HP:0040156	HP:0040156	Elevated urinary carboxylic acid	0	SLC22A5 CL E G H	6584	10969	OMIM:212140	Carnitine deficiency, systemic primary		207
HP:0040156	HP:0040156	Elevated urinary carboxylic acid	0	SLC25A1 CL E G H	6576	10979	OMIM:615182	Combined d-2- and l-2-hydroxyglutaric aciduria		28
HP:0040156	HP:0040156	Elevated urinary carboxylic acid	0	SLC25A20 CL E G H	788	1421	OMIM:212138	Carnitine-acylcarnitine translocase deficiency		40
HP:0040156	HP:0040156	Elevated urinary carboxylic acid	0	SLC25A20 CL E G H	788	1421	ORPHA:159	Carnitine-acylcarnitine translocase deficiency		40
HP:0040156	HP:0040156	Elevated urinary carboxylic acid	0	SLC52A1 CL E G H	55065	30225	OMIM:615026	Riboflavin deficiency		3
HP:0040156	HP:0040156	Elevated urinary carboxylic acid	0	SUCLA2 CL E G H	8803	11448	OMIM:612073	Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)		66
HP:0040156	HP:0040156	Elevated urinary carboxylic acid	0	SUCLA2 CL E G H	8803	11448	ORPHA:1933	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria		66
HP:0040156	HP:0040156	Elevated urinary carboxylic acid	0	SUCLG1 CL E G H	8802	11449	ORPHA:17	Fatal infantile lactic acidosis with methylmalonic aciduria		60
HP:0040156	HP:0040156	Elevated urinary carboxylic acid	0	SUCLG1 CL E G H	8802	11449	OMIM:245400	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)		60
HP:0040156	HP:0040156	Elevated urinary carboxylic acid	0	SUGCT CL E G H	79783	16001	ORPHA:35706	Glutaric acidemia type 3		8
HP:0040156	HP:0040156	Elevated urinary carboxylic acid	0	SUGCT CL E G H	79783	16001	OMIM:231690	Glutaric aciduria III		8
HP:0040156	HP:0040156	Elevated urinary carboxylic acid	0	TAT CL E G H	6898	11573	OMIM:276600	Tyrosine transaminase deficiency		43
HP:0040156	HP:0040156	Elevated urinary carboxylic acid	0	TCN2 CL E G H	6948	11653	ORPHA:859	Transcobalamin deficiency		57
HP:0040156	HP:0040156	Elevated urinary carboxylic acid	0	TCN2 CL E G H	6948	11653	OMIM:275350	Transcobalamin II deficiency		57
HP:0040156	HP:0040156	Elevated urinary carboxylic acid	0	TRMU CL E G H	55687	25481	OMIM:613070	Liver failure, infantile, transient		101
HP:0040156	HP:0040156	Elevated urinary carboxylic acid	0	UROC1 CL E G H	131669	26444	OMIM:276880	Urocanase deficiency		8
HP:0040156	HP:0040156	Elevated urinary carboxylic acid	0	UROC1 CL E G H	131669	26444	ORPHA:210128	Urocanic aciduria		8
HP:0040156	HP:0040156	Elevated urinary carboxylic acid	0	UROS CL E G H	7390	12592	ORPHA:79277	Congenital erythropoietic porphyria		41
HP:0040156	HP:0034461	Elevated urine kynurenine level	1	CL E G H
HP:0040156	HP:0033220	2-ethylhydracylic aciduria	1	CL E G H
HP:0040156	HP:0034458	Elevated urinary phenylpyruvic acid level	1	CL E G H
HP:0040156	HP:0025638	Elevated urinary N-butyrylglycine	1	CL E G H
HP:0040156	HP:0003215	Dicarboxylic aciduria	1	ABCD4 CL E G H	5826	68	OMIM:614857	Methylmalonic aciduria and homocystinuria, Cblj type		53
HP:0040156	HP:0003215	Dicarboxylic aciduria	1	ACAD8 CL E G H	27034	87	ORPHA:79159	Isobutyryl-CoA dehydrogenase deficiency	HP:0040282 - Frequent	58
HP:0040156	HP:0003215	Dicarboxylic aciduria	1	ACAD9 CL E G H	28976	21497	ORPHA:99901	Acyl-CoA dehydrogenase 9 deficiency	HP:0040283 - Occasional	98
HP:0040156	HP:0003215	Dicarboxylic aciduria	1	ACAD9 CL E G H	28976	21497	OMIM:611126	Mitochondrial complex I deficiency due to acad9 deficiency	HP:0040283 - Occasional	98
HP:0040156	HP:0003215	Dicarboxylic aciduria	1	ACADM CL E G H	34	89	OMIM:201450	Acyl-Coa dehydrogenase, medium-chain, deficiency of		197
HP:0040156	HP:0003215	Dicarboxylic aciduria	1	ACADM CL E G H	34	89	ORPHA:42	Medium chain acyl-CoA dehydrogenase deficiency	HP:0040282 - Frequent	197
HP:0040156	HP:0033303	Elevated urinary monocarboxylic acid level	1	ACADM CL E G H	34	89	ORPHA:42	Medium chain acyl-CoA dehydrogenase deficiency		197
HP:0040156	HP:0003215	Dicarboxylic aciduria	1	ACADS CL E G H	35	90	OMIM:201470	Acyl-Coa dehydrogenase, short-chain, deficiency of		90
HP:0040156	HP:0003215	Dicarboxylic aciduria	1	ACADS CL E G H	35	90	ORPHA:26792	Short chain acyl-CoA dehydrogenase deficiency		90
HP:0040156	HP:0003215	Dicarboxylic aciduria	1	ACADVL CL E G H	37	92	OMIM:201475	Very long-chain acyl-CoA dehydrogenase deficiency	.	200
HP:0040156	HP:0003215	Dicarboxylic aciduria	1	ACSF3 CL E G H	197322	27288	ORPHA:289504	Combined malonic and methylmalonic acidemia	HP:0040281 - Very frequent	68
HP:0040156	HP:0003215	Dicarboxylic aciduria	1	ACSF3 CL E G H	197322	27288	OMIM:614265	Combined malonic and methylmalonic aciduria		68
HP:0040156	HP:0003215	Dicarboxylic aciduria	1	ALAD CL E G H	210	395	ORPHA:100924	Porphyria due to ALA dehydratase deficiency		62
HP:0040156	HP:0033303	Elevated urinary monocarboxylic acid level	1	ALDH5A1 CL E G H	7915	408	OMIM:271980	Succinic semialdehyde dehydrogenase deficiency		108
HP:0040156	HP:0003215	Dicarboxylic aciduria	1	CD320 CL E G H	51293	16692	OMIM:613646	METHYLMALONIC ACIDURIA, TRANSIENT, DUE TO TRANSCOBALAMIN RECEPTOR DEFECT		16
HP:0040156	HP:0003215	Dicarboxylic aciduria	1	COX16 CL E G H	51241	20213	OMIM:619355	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22; MC4DN22
HP:0040156	HP:0003215	Dicarboxylic aciduria	1	CPOX CL E G H	1371	2321	OMIM:121300	Coproporphyria		72
HP:0040156	HP:0003215	Dicarboxylic aciduria	1	CPOX CL E G H	1371	2321	OMIM:618892	Harderoporphyria		72
HP:0040156	HP:0003215	Dicarboxylic aciduria	1	CPOX CL E G H	1371	2321	ORPHA:79273	Hereditary coproporphyria		72
HP:0040156	HP:0003215	Dicarboxylic aciduria	1	CPT2 CL E G H	1376	2330	ORPHA:228308	Carnitine palmitoyl transferase II deficiency, neonatal form	HP:0040282 - Frequent	101
HP:0040156	HP:0003215	Dicarboxylic aciduria	1	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal		101
HP:0040156	HP:0003215	Dicarboxylic aciduria	1	D2HGDH CL E G H	728294	28358	OMIM:600721	D-2-Hydroxyglutaric aciduria 1		102
HP:0040156	HP:0003215	Dicarboxylic aciduria	1	DHTKD1 CL E G H	55526	23537	OMIM:204750	2-AMINOADIPIC 2-OXOADIPIC ACIDURIA; AMOXAD		12
HP:0040156	HP:0003215	Dicarboxylic aciduria	1	DNAJC19 CL E G H	131118	30528	OMIM:610198	3-@methylglutaconic aciduria, type V		25
HP:0040156	HP:0003215	Dicarboxylic aciduria	1	ETFA CL E G H	2108	3481	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency		37
HP:0040156	HP:0003215	Dicarboxylic aciduria	1	ETFB CL E G H	2109	3482	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency		27
HP:0040156	HP:0003215	Dicarboxylic aciduria	1	ETFDH CL E G H	2110	3483	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency		77
HP:0040156	HP:0003215	Dicarboxylic aciduria	1	ETHE1 CL E G H	23474	23287	OMIM:602473	Encephalopathy, ethylmalonic		42
HP:0040156	HP:0003215	Dicarboxylic aciduria	1	ETHE1 CL E G H	23474	23287	ORPHA:51188	Ethylmalonic encephalopathy		42
HP:0040156	HP:0025631	Alpha-aminobutyric aciduria	1	FOCAD CL E G H	54914	23377	OMIM:619991			3
HP:0040156	HP:0003215	Dicarboxylic aciduria	1	GATA1 CL E G H	2623	4170	ORPHA:79277	Congenital erythropoietic porphyria		29
HP:0040156	HP:0003215	Dicarboxylic aciduria	1	GCDH CL E G H	2639	4189	OMIM:231670	Glutaric acidemia I		115
HP:0040156	HP:0003215	Dicarboxylic aciduria	1	GCDH CL E G H	2639	4189	ORPHA:25	Glutaryl-CoA dehydrogenase deficiency		115
HP:0040156	HP:0003215	Dicarboxylic aciduria	1	HADH CL E G H	3033	4799	OMIM:231530	3-Hydroxyacyl-Coa dehydrogenase deficiency	.	41
HP:0040156	HP:0003215	Dicarboxylic aciduria	1	HADH CL E G H	3033	4799	ORPHA:71212	Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency	HP:0040281 - Very frequent	41
HP:0040156	HP:0003215	Dicarboxylic aciduria	1	HCFC1 CL E G H	3054	4839	OMIM:309541	Methylmalonic acidemia and homocysteinemia, Cblx type		100
HP:0040156	HP:0003215	Dicarboxylic aciduria	1	HFE CL E G H	3077	4886	OMIM:176200	Porphyria variegata		38
HP:0040156	HP:0033303	Elevated urinary monocarboxylic acid level	1	HGD CL E G H	3081	4892	OMIM:203500	Alkaptonuria		77
HP:0040156	HP:0003215	Dicarboxylic aciduria	1	HMBS CL E G H	3145	4982	ORPHA:79276	Acute intermittent porphyria		81
HP:0040156	HP:0003215	Dicarboxylic aciduria	1	HMGCL CL E G H	3155	5005	OMIM:246450	3-Hydroxy-3-Methylglutaryl-Coa lyase deficiency		35
HP:0040156	HP:0003607	4-hydroxyphenylacetic aciduria	1	HPD CL E G H	3242	5147	OMIM:140350	HAWKINSINURIA	.	23
HP:0040156	HP:0003161	4-Hydroxyphenylpyruvic aciduria	1	HPD CL E G H	3242	5147	ORPHA:2118	Hawkinsinuria	HP:0040281 - Very frequent	23
HP:0040156	HP:0003161	4-Hydroxyphenylpyruvic aciduria	1	HPD CL E G H	3242	5147	OMIM:140350	HAWKINSINURIA	.	23
HP:0040156	HP:0003607	4-hydroxyphenylacetic aciduria	1	HPD CL E G H	3242	5147	ORPHA:2118	Hawkinsinuria	HP:0040281 - Very frequent	23
HP:0040156	HP:0003607	4-hydroxyphenylacetic aciduria	1	HPD CL E G H	3242	5147	OMIM:276710	Tyrosinemia, type III	.	23
HP:0040156	HP:0003161	4-Hydroxyphenylpyruvic aciduria	1	HPD CL E G H	3242	5147	OMIM:276710	Tyrosinemia, type III	.	23
HP:0040156	HP:0003215	Dicarboxylic aciduria	1	IDH1 CL E G H	3417	5382	ORPHA:99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria		15
HP:0040156	HP:0003215	Dicarboxylic aciduria	1	IDH2 CL E G H	3418	5383	OMIM:613657	D-2-hydroxyglutaric aciduria 2		29
HP:0040156	HP:0011977	Elevated urinary homovanillic acid	1	KIF1B CL E G H	23095	16636	OMIM:256700	Neuroblastoma, susceptibility to	.	202
HP:0040156	HP:0011978	Elevated urinary vanillylmandelic acid	1	KIF1B CL E G H	23095	16636	OMIM:256700	Neuroblastoma, susceptibility to	.	202
HP:0040156	HP:0003215	Dicarboxylic aciduria	1	L2HGDH CL E G H	79944	20499	OMIM:236792	L-2-Hydroxyglutaric aciduria		34
HP:0040156	HP:0003215	Dicarboxylic aciduria	1	LETM1 CL E G H	3954	6556	OMIM:620089			2
HP:0040156	HP:0003215	Dicarboxylic aciduria	1	LMBRD1 CL E G H	55788	23038	ORPHA:79284	Methylmalonic acidemia with homocystinuria type cblF		46
HP:0040156	HP:0003215	Dicarboxylic aciduria	1	LMBRD1 CL E G H	55788	23038	OMIM:277380	Methylmalonic aciduria and homocystinuria, Cblf type		46
HP:0040156	HP:0033596	Elevated urinary 3-methylcrotonylglycine level	1	MCCC1 CL E G H	56922	6936	OMIM:210200	3-Methylcrotonyl-CoA carboxylase 1 deficiency		81
HP:0040156	HP:0003215	Dicarboxylic aciduria	1	MCEE CL E G H	84693	16732	OMIM:251120	Methylmalonyl-Coa epimerase deficiency		19
HP:0040156	HP:0003215	Dicarboxylic aciduria	1	MLYCD CL E G H	23417	7150	OMIM:248360	Malonyl-CoA decarboxylase deficiency		80
HP:0040156	HP:0003215	Dicarboxylic aciduria	1	MMAA CL E G H	166785	18871	OMIM:251100	Methylmalonic aciduria, Cbla type		113
HP:0040156	HP:0003215	Dicarboxylic aciduria	1	MMAB CL E G H	326625	19331	OMIM:251110	Methylmalonic aciduria, Cblb type		127
HP:0040156	HP:0003215	Dicarboxylic aciduria	1	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC		101
HP:0040156	HP:0003215	Dicarboxylic aciduria	1	MMACHC CL E G H	25974	24525	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type		101
HP:0040156	HP:0003215	Dicarboxylic aciduria	1	MMADHC CL E G H	27249	25221	OMIM:277410	Methylmalonic aciduria and homocystinuria, Cbld type		50
HP:0040156	HP:0003215	Dicarboxylic aciduria	1	MMUT CL E G H	4594	7526	OMIM:251000	Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency
HP:0040156	HP:0032638	Elevated urine mevalonic acid level	1	MVK CL E G H	4598	7530	OMIM:260920	Hyper-Igd syndrome		150
HP:0040156	HP:0032638	Elevated urine mevalonic acid level	1	MVK CL E G H	4598	7530	OMIM:610377	Mevalonic aciduria		150
HP:0040156	HP:0033303	Elevated urinary monocarboxylic acid level	1	NDUFB10 CL E G H	4716	7696	OMIM:619003	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 35; MC1DN35
HP:0040156	HP:0003215	Dicarboxylic aciduria	1	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1		27
HP:0040156	HP:0003215	Dicarboxylic aciduria	1	NFU1 CL E G H	27247	16287	OMIM:605711	Multiple mitochondrial dysfunctions syndrome 1		34
HP:0040156	HP:0033303	Elevated urinary monocarboxylic acid level	1	OXCT1 CL E G H	5019	8527	OMIM:245050	Succinyl CoA:3-oxoacid CoA transferase deficiency		52
HP:0040156	HP:0003215	Dicarboxylic aciduria	1	POLG CL E G H	5428	9179	OMIM:203700	Mitochondrial DNA depletion syndrome 4A (Alpers type)		464
HP:0040156	HP:0003215	Dicarboxylic aciduria	1	PPOX CL E G H	5498	9280	ORPHA:79473	Porphyria variegata		41
HP:0040156	HP:0003215	Dicarboxylic aciduria	1	PPOX CL E G H	5498	9280	OMIM:176200	Porphyria variegata		41
HP:0040156	HP:0003215	Dicarboxylic aciduria	1	PRDX1 CL E G H	5052	9352	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type
HP:0040156	HP:0011978	Elevated urinary vanillylmandelic acid	1	RET CL E G H	5979	9967	OMIM:171400	Multiple endocrine neoplasia, type IIA		572
HP:0040156	HP:0003215	Dicarboxylic aciduria	1	SCO1 CL E G H	6341	10603	OMIM:619048	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 4; MC4DN4		46
HP:0040156	HP:0003215	Dicarboxylic aciduria	1	SLC13A3 CL E G H	64849	14430	OMIM:618384	Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate		2
HP:0040156	HP:0011977	Elevated urinary homovanillic acid	1	SLC18A2 CL E G H	6571	10935	OMIM:618049	Parkinsonism-Dystonia, infantile, 2		2
HP:0040156	HP:0003215	Dicarboxylic aciduria	1	SLC22A5 CL E G H	6584	10969	OMIM:212140	Carnitine deficiency, systemic primary	.	207
HP:0040156	HP:0003215	Dicarboxylic aciduria	1	SLC25A1 CL E G H	6576	10979	OMIM:615182	Combined d-2- and l-2-hydroxyglutaric aciduria		28
HP:0040156	HP:0003215	Dicarboxylic aciduria	1	SLC25A20 CL E G H	788	1421	OMIM:212138	Carnitine-acylcarnitine translocase deficiency	.	40
HP:0040156	HP:0003215	Dicarboxylic aciduria	1	SLC25A20 CL E G H	788	1421	ORPHA:159	Carnitine-acylcarnitine translocase deficiency	HP:0040281 - Very frequent	40
HP:0040156	HP:0003215	Dicarboxylic aciduria	1	SLC52A1 CL E G H	55065	30225	OMIM:615026	Riboflavin deficiency	.	3
HP:0040156	HP:0003215	Dicarboxylic aciduria	1	SUCLA2 CL E G H	8803	11448	OMIM:612073	Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)		66
HP:0040156	HP:0003215	Dicarboxylic aciduria	1	SUCLA2 CL E G H	8803	11448	ORPHA:1933	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria		66
HP:0040156	HP:0003215	Dicarboxylic aciduria	1	SUCLG1 CL E G H	8802	11449	ORPHA:17	Fatal infantile lactic acidosis with methylmalonic aciduria		60
HP:0040156	HP:0003215	Dicarboxylic aciduria	1	SUCLG1 CL E G H	8802	11449	OMIM:245400	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)		60
HP:0040156	HP:0003215	Dicarboxylic aciduria	1	SUGCT CL E G H	79783	16001	ORPHA:35706	Glutaric acidemia type 3		8
HP:0040156	HP:0003215	Dicarboxylic aciduria	1	SUGCT CL E G H	79783	16001	OMIM:231690	Glutaric aciduria III		8
HP:0040156	HP:0003161	4-Hydroxyphenylpyruvic aciduria	1	TAT CL E G H	6898	11573	OMIM:276600	Tyrosine transaminase deficiency	.	43
HP:0040156	HP:0003215	Dicarboxylic aciduria	1	TCN2 CL E G H	6948	11653	ORPHA:859	Transcobalamin deficiency		57
HP:0040156	HP:0003215	Dicarboxylic aciduria	1	TCN2 CL E G H	6948	11653	OMIM:275350	Transcobalamin II deficiency		57
HP:0040156	HP:0003215	Dicarboxylic aciduria	1	TRMU CL E G H	55687	25481	OMIM:613070	Liver failure, infantile, transient		101
HP:0040156	HP:0012237	Urocanic aciduria	1	UROC1 CL E G H	131669	26444	OMIM:276880	Urocanase deficiency	.	8
HP:0040156	HP:0012237	Urocanic aciduria	1	UROC1 CL E G H	131669	26444	ORPHA:210128	Urocanic aciduria	HP:0040281 - Very frequent	8
HP:0040156	HP:0003215	Dicarboxylic aciduria	1	UROS CL E G H	7390	12592	ORPHA:79277	Congenital erythropoietic porphyria		41
HP:0040156	HP:0033409	Elevated urinary 2-hydroxybutyric acid	2	CL E G H
HP:0040156	HP:0034457	Hawkinsinuria	2	CL E G H
HP:0040156	HP:0034497	Increased urinary hexanoic acid level	2	CL E G H
HP:0040156	HP:0033456	Elevated urine keto acid level	2	CL E G H
HP:0040156	HP:0034465	2-hydroxyadipic aciduria	2	CL E G H
HP:0040156	HP:0012120	Methylmalonic aciduria	2	ABCD4 CL E G H	5826	68	OMIM:614857	Methylmalonic aciduria and homocystinuria, Cblj type	.	53
HP:0040156	HP:0008309	Medium chain dicarboxylic aciduria	2	ACADM CL E G H	34	89	OMIM:201450	Acyl-Coa dehydrogenase, medium-chain, deficiency of	.	197
HP:0040156	HP:0040155	Elevated urinary 3-hydroxybutyric acid	2	ACADM CL E G H	34	89	ORPHA:42	Medium chain acyl-CoA dehydrogenase deficiency	HP:0040283 - Occasional	197
HP:0040156	HP:0003219	Ethylmalonic aciduria	2	ACADS CL E G H	35	90	OMIM:201470	Acyl-Coa dehydrogenase, short-chain, deficiency of	.	90
HP:0040156	HP:0410153	Increased level of methylsuccinic acid in urine	2	ACADS CL E G H	35	90	ORPHA:26792	Short chain acyl-CoA dehydrogenase deficiency	HP:0040282 - Frequent	90
HP:0040156	HP:0003219	Ethylmalonic aciduria	2	ACADS CL E G H	35	90	ORPHA:26792	Short chain acyl-CoA dehydrogenase deficiency	HP:0040282 - Frequent	90
HP:0040156	HP:0012120	Methylmalonic aciduria	2	ACSF3 CL E G H	197322	27288	ORPHA:289504	Combined malonic and methylmalonic acidemia	HP:0040281 - Very frequent	68
HP:0040156	HP:0012120	Methylmalonic aciduria	2	ACSF3 CL E G H	197322	27288	OMIM:614265	Combined malonic and methylmalonic aciduria		68
HP:0040156	HP:0012217	Increased urinary porphobilinogen	2	ALAD CL E G H	210	395	ORPHA:100924	Porphyria due to ALA dehydratase deficiency	HP:0040282 - Frequent	62
HP:0040156	HP:0032528	Elevated urinary 4-hydroxybutyric acid	2	ALDH5A1 CL E G H	7915	408	OMIM:271980	Succinic semialdehyde dehydrogenase deficiency	.	108
HP:0040156	HP:0012120	Methylmalonic aciduria	2	CD320 CL E G H	51293	16692	OMIM:613646	METHYLMALONIC ACIDURIA, TRANSIENT, DUE TO TRANSCOBALAMIN RECEPTOR DEFECT		16
HP:0040156	HP:0008160	3-hydroxydicarboxylic aciduria	2	COX16 CL E G H	51241	20213	OMIM:619355	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22; MC4DN22
HP:0040156	HP:0003219	Ethylmalonic aciduria	2	COX16 CL E G H	51241	20213	OMIM:619355	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22; MC4DN22
HP:0040156	HP:0012217	Increased urinary porphobilinogen	2	CPOX CL E G H	1371	2321	OMIM:121300	Coproporphyria		72
HP:0040156	HP:0012217	Increased urinary porphobilinogen	2	CPOX CL E G H	1371	2321	OMIM:618892	Harderoporphyria	.	72
HP:0040156	HP:0012217	Increased urinary porphobilinogen	2	CPOX CL E G H	1371	2321	ORPHA:79273	Hereditary coproporphyria	HP:0040282 - Frequent	72
HP:0040156	HP:0008293	Long-chain dicarboxylic aciduria	2	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal	.	101
HP:0040156	HP:0032278	2-hydroxyglutarate aciduria	2	D2HGDH CL E G H	728294	28358	OMIM:600721	D-2-Hydroxyglutaric aciduria 1		102
HP:0040156	HP:0003150	Glutaric aciduria	2	D2HGDH CL E G H	728294	28358	OMIM:600721	D-2-Hydroxyglutaric aciduria 1	.	102
HP:0040156	HP:0410309	Alpha-aminoadipic aciduria	2	DHTKD1 CL E G H	55526	23537	OMIM:204750	2-AMINOADIPIC 2-OXOADIPIC ACIDURIA; AMOXAD		12
HP:0040156	HP:0003150	Glutaric aciduria	2	DNAJC19 CL E G H	131118	30528	OMIM:610198	3-@methylglutaconic aciduria, type V	.	25
HP:0040156	HP:0003150	Glutaric aciduria	2	ETFA CL E G H	2108	3481	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency	.	37
HP:0040156	HP:0003219	Ethylmalonic aciduria	2	ETFA CL E G H	2108	3481	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency	.	37
HP:0040156	HP:0003150	Glutaric aciduria	2	ETFB CL E G H	2109	3482	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency	.	27
HP:0040156	HP:0003219	Ethylmalonic aciduria	2	ETFB CL E G H	2109	3482	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency	.	27
HP:0040156	HP:0003219	Ethylmalonic aciduria	2	ETFDH CL E G H	2110	3483	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency	.	77
HP:0040156	HP:0003150	Glutaric aciduria	2	ETFDH CL E G H	2110	3483	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency	.	77
HP:0040156	HP:0003219	Ethylmalonic aciduria	2	ETHE1 CL E G H	23474	23287	OMIM:602473	Encephalopathy, ethylmalonic	.	42
HP:0040156	HP:0003219	Ethylmalonic aciduria	2	ETHE1 CL E G H	23474	23287	ORPHA:51188	Ethylmalonic encephalopathy	HP:0040281 - Very frequent	42
HP:0040156	HP:0012217	Increased urinary porphobilinogen	2	GATA1 CL E G H	2623	4170	ORPHA:79277	Congenital erythropoietic porphyria	HP:0040281 - Very frequent	29
HP:0040156	HP:0003150	Glutaric aciduria	2	GCDH CL E G H	2639	4189	OMIM:231670	Glutaric acidemia I	.	115
HP:0040156	HP:0003150	Glutaric aciduria	2	GCDH CL E G H	2639	4189	ORPHA:25	Glutaryl-CoA dehydrogenase deficiency	HP:0040281 - Very frequent	115
HP:0040156	HP:0012120	Methylmalonic aciduria	2	HCFC1 CL E G H	3054	4839	OMIM:309541	Methylmalonic acidemia and homocysteinemia, Cblx type	.	100
HP:0040156	HP:0012217	Increased urinary porphobilinogen	2	HFE CL E G H	3077	4886	OMIM:176200	Porphyria variegata		38
HP:0040156	HP:0033704	Elevated urinary homogentisic acid	2	HGD CL E G H	3081	4892	OMIM:203500	Alkaptonuria		77
HP:0040156	HP:0012217	Increased urinary porphobilinogen	2	HMBS CL E G H	3145	4982	ORPHA:79276	Acute intermittent porphyria	HP:0040281 - Very frequent	81
HP:0040156	HP:0003150	Glutaric aciduria	2	HMGCL CL E G H	3155	5005	OMIM:246450	3-Hydroxy-3-Methylglutaryl-Coa lyase deficiency	.	35
HP:0040156	HP:0410051	Increased level of 3-hydroxy-3-methylglutaric acid in urine	2	HMGCL CL E G H	3155	5005	OMIM:246450	3-Hydroxy-3-Methylglutaryl-Coa lyase deficiency		35
HP:0040156	HP:0032278	2-hydroxyglutarate aciduria	2	IDH1 CL E G H	3417	5382	ORPHA:99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria		15
HP:0040156	HP:0032278	2-hydroxyglutarate aciduria	2	IDH2 CL E G H	3418	5383	OMIM:613657	D-2-hydroxyglutaric aciduria 2		29
HP:0040156	HP:0032278	2-hydroxyglutarate aciduria	2	L2HGDH CL E G H	79944	20499	OMIM:236792	L-2-Hydroxyglutaric aciduria		34
HP:0040156	HP:0410309	Alpha-aminoadipic aciduria	2	LETM1 CL E G H	3954	6556	OMIM:620089			2
HP:0040156	HP:0012120	Methylmalonic aciduria	2	LMBRD1 CL E G H	55788	23038	ORPHA:79284	Methylmalonic acidemia with homocystinuria type cblF	HP:0040281 - Very frequent	46
HP:0040156	HP:0012120	Methylmalonic aciduria	2	LMBRD1 CL E G H	55788	23038	OMIM:277380	Methylmalonic aciduria and homocystinuria, Cblf type	.	46
HP:0040156	HP:0012120	Methylmalonic aciduria	2	MCEE CL E G H	84693	16732	OMIM:251120	Methylmalonyl-Coa epimerase deficiency	.	19
HP:0040156	HP:0033213	Elevated urine suberic acid level	2	MLYCD CL E G H	23417	7150	OMIM:248360	Malonyl-CoA decarboxylase deficiency		80
HP:0040156	HP:0012120	Methylmalonic aciduria	2	MLYCD CL E G H	23417	7150	OMIM:248360	Malonyl-CoA decarboxylase deficiency		80
HP:0040156	HP:0012120	Methylmalonic aciduria	2	MMAA CL E G H	166785	18871	OMIM:251100	Methylmalonic aciduria, Cbla type	.	113
HP:0040156	HP:0012120	Methylmalonic aciduria	2	MMAB CL E G H	326625	19331	OMIM:251110	Methylmalonic aciduria, Cblb type	.	127
HP:0040156	HP:0012120	Methylmalonic aciduria	2	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC	HP:0040281 - Very frequent	101
HP:0040156	HP:0012120	Methylmalonic aciduria	2	MMACHC CL E G H	25974	24525	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type	.	101
HP:0040156	HP:0012120	Methylmalonic aciduria	2	MMADHC CL E G H	27249	25221	OMIM:277410	Methylmalonic aciduria and homocystinuria, Cbld type	.	50
HP:0040156	HP:0012120	Methylmalonic aciduria	2	MMUT CL E G H	4594	7526	OMIM:251000	Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency	.
HP:0040156	HP:0032528	Elevated urinary 4-hydroxybutyric acid	2	NDUFB10 CL E G H	4716	7696	OMIM:619003	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 35; MC1DN35
HP:0040156	HP:0008160	3-hydroxydicarboxylic aciduria	2	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1		27
HP:0040156	HP:0410309	Alpha-aminoadipic aciduria	2	NFU1 CL E G H	27247	16287	OMIM:605711	Multiple mitochondrial dysfunctions syndrome 1		34
HP:0040156	HP:0040155	Elevated urinary 3-hydroxybutyric acid	2	OXCT1 CL E G H	5019	8527	OMIM:245050	Succinyl CoA:3-oxoacid CoA transferase deficiency		52
HP:0040156	HP:0003219	Ethylmalonic aciduria	2	POLG CL E G H	5428	9179	OMIM:203700	Mitochondrial DNA depletion syndrome 4A (Alpers type)	.	464
HP:0040156	HP:0012217	Increased urinary porphobilinogen	2	PPOX CL E G H	5498	9280	ORPHA:79473	Porphyria variegata	HP:0040281 - Very frequent	41
HP:0040156	HP:0012217	Increased urinary porphobilinogen	2	PPOX CL E G H	5498	9280	OMIM:176200	Porphyria variegata		41
HP:0040156	HP:0012120	Methylmalonic aciduria	2	PRDX1 CL E G H	5052	9352	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type	.
HP:0040156	HP:0033092	Increased urine succinate level	2	SCO1 CL E G H	6341	10603	OMIM:619048	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 4; MC4DN4		46
HP:0040156	HP:0033092	Increased urine succinate level	2	SLC13A3 CL E G H	64849	14430	OMIM:618384	Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate		2
HP:0040156	HP:0032278	2-hydroxyglutarate aciduria	2	SLC25A1 CL E G H	6576	10979	OMIM:615182	Combined d-2- and l-2-hydroxyglutaric aciduria		28
HP:0040156	HP:0012120	Methylmalonic aciduria	2	SUCLA2 CL E G H	8803	11448	OMIM:612073	Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)	.	66
HP:0040156	HP:0012120	Methylmalonic aciduria	2	SUCLA2 CL E G H	8803	11448	ORPHA:1933	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	HP:0040281 - Very frequent	66
HP:0040156	HP:0003219	Ethylmalonic aciduria	2	SUCLG1 CL E G H	8802	11449	ORPHA:17	Fatal infantile lactic acidosis with methylmalonic aciduria	HP:0040284 - Very rare	60
HP:0040156	HP:0012120	Methylmalonic aciduria	2	SUCLG1 CL E G H	8802	11449	ORPHA:17	Fatal infantile lactic acidosis with methylmalonic aciduria	HP:0040280 - Obligate	60
HP:0040156	HP:0012120	Methylmalonic aciduria	2	SUCLG1 CL E G H	8802	11449	OMIM:245400	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)		60
HP:0040156	HP:0003150	Glutaric aciduria	2	SUGCT CL E G H	79783	16001	ORPHA:35706	Glutaric acidemia type 3	HP:0040280 - Obligate	8
HP:0040156	HP:0003150	Glutaric aciduria	2	SUGCT CL E G H	79783	16001	OMIM:231690	Glutaric aciduria III	.	8
HP:0040156	HP:0012120	Methylmalonic aciduria	2	TCN2 CL E G H	6948	11653	ORPHA:859	Transcobalamin deficiency	HP:0040281 - Very frequent	57
HP:0040156	HP:0012120	Methylmalonic aciduria	2	TCN2 CL E G H	6948	11653	OMIM:275350	Transcobalamin II deficiency	.	57
HP:0040156	HP:0008160	3-hydroxydicarboxylic aciduria	2	TRMU CL E G H	55687	25481	OMIM:613070	Liver failure, infantile, transient		101
HP:0040156	HP:0012217	Increased urinary porphobilinogen	2	UROS CL E G H	7390	12592	ORPHA:79277	Congenital erythropoietic porphyria	HP:0040281 - Very frequent	41
HP:0040156	HP:0033458	Elevated urine 4-methyl-2-oxopentanoic acid level	3	CL E G H
HP:0040156	HP:0033457	Elevated urine 3-methyl-2-oxovaleric acid level	3	CL E G H
HP:0040156	HP:0012321	D-2-hydroxyglutaric aciduria	3	D2HGDH CL E G H	728294	28358	OMIM:600721	D-2-Hydroxyglutaric aciduria 1	.	102
HP:0040156	HP:0012321	D-2-hydroxyglutaric aciduria	3	IDH1 CL E G H	3417	5382	ORPHA:99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria		15
HP:0040156	HP:0012321	D-2-hydroxyglutaric aciduria	3	IDH2 CL E G H	3418	5383	OMIM:613657	D-2-hydroxyglutaric aciduria 2		29
HP:0040156	HP:0040144	L-2-hydroxyglutaric aciduria	3	L2HGDH CL E G H	79944	20499	OMIM:236792	L-2-Hydroxyglutaric aciduria	.	34
HP:0040156	HP:0040144	L-2-hydroxyglutaric aciduria	3	SLC25A1 CL E G H	6576	10979	OMIM:615182	Combined d-2- and l-2-hydroxyglutaric aciduria	.	28

Genes (68) :ABCD4 ACAD8 ACAD9 ACADM ACADS ACADVL ACSF3 ALAD ALDH5A1 CD320 COX16 CPOX CPT2 D2HGDH DHTKD1 DNAJC19 ETFA ETFB ETFDH ETHE1 FOCAD GATA1 GCDH HADH HCFC1 HFE HGD HMBS HMGCL HPD IDH1 IDH2 KIF1B L2HGDH LETM1 LMBRD1 MCCC1 MCEE MLYCD MMAA MMAB MMACHC MMADHC MMUT MVK NDUFB10 NDUFS4 NFU1 OXCT1 POLG PPOX PRDX1 RET SCO1 SLC13A3 SLC18A2 SLC22A5 SLC25A1 SLC25A20 SLC52A1 SUCLA2 SUCLG1 SUGCT TAT TCN2 TRMU UROC1 UROS

Diseases (85) :OMIM:614857 ORPHA:79159 ORPHA:99901 OMIM:611126 OMIM:201450 ORPHA:42 OMIM:201470 ORPHA:26792 OMIM:201475 ORPHA:289504 OMIM:614265 ORPHA:100924 OMIM:271980 OMIM:613646 OMIM:619355 OMIM:121300 OMIM:618892 ORPHA:79273 ORPHA:228308 OMIM:608836 OMIM:600721 OMIM:204750 OMIM:610198 OMIM:231680 OMIM:602473 ORPHA:51188 OMIM:619991 ORPHA:79277 OMIM:231670 ORPHA:25 OMIM:231530 ORPHA:71212 OMIM:309541 OMIM:176200 OMIM:203500 ORPHA:79276 OMIM:246450 ORPHA:2118 OMIM:140350 OMIM:276710 ORPHA:99646 OMIM:613657 OMIM:256700 OMIM:236792 OMIM:620089 ORPHA:79284 OMIM:277380 OMIM:210200 OMIM:251120 OMIM:248360 OMIM:251100 OMIM:251110 ORPHA:79282 OMIM:277400 OMIM:277410 OMIM:251000 OMIM:260920 OMIM:610377 OMIM:619003 OMIM:252010 OMIM:605711 OMIM:245050 OMIM:203700 ORPHA:79473 OMIM:171400 OMIM:619048 OMIM:618384 OMIM:618049 OMIM:212140 OMIM:615182 OMIM:212138 ORPHA:159 OMIM:615026 OMIM:612073 ORPHA:1933 ORPHA:17 OMIM:245400 ORPHA:35706 OMIM:231690 OMIM:276600 ORPHA:859 OMIM:275350 OMIM:613070 OMIM:276880 ORPHA:210128

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

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