Human Phenotype Ontology

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:0010996	HP:0010996	Abnormal circulating monocarboxylic acid concentration	0	ABCB11 CL E G H	8647	42	ORPHA:69665	Intrahepatic cholestasis of pregnancy		146
HP:0010996	HP:0010996	Abnormal circulating monocarboxylic acid concentration	0	ABCB4 CL E G H	5244	45	OMIM:614972	Cholestasis, intrahepatic, of pregnancy 3		111
HP:0010996	HP:0010996	Abnormal circulating monocarboxylic acid concentration	0	ABCB4 CL E G H	5244	45	ORPHA:69665	Intrahepatic cholestasis of pregnancy		111
HP:0010996	HP:0010996	Abnormal circulating monocarboxylic acid concentration	0	ABCD3 CL E G H	5825	67	OMIM:616278	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5; CBAS5		5
HP:0010996	HP:0010996	Abnormal circulating monocarboxylic acid concentration	0	ABCD4 CL E G H	5826	68	OMIM:614857	Methylmalonic aciduria and homocystinuria, Cblj type		53
HP:0010996	HP:0010996	Abnormal circulating monocarboxylic acid concentration	0	ACAD8 CL E G H	27034	87	ORPHA:79159	Isobutyryl-CoA dehydrogenase deficiency		58
HP:0010996	HP:0010996	Abnormal circulating monocarboxylic acid concentration	0	ACAD8 CL E G H	27034	87	OMIM:611283	Isobutyryl-CoA dehydrogenase deficiency		58
HP:0010996	HP:0010996	Abnormal circulating monocarboxylic acid concentration	0	ACAD9 CL E G H	28976	21497	ORPHA:99901	Acyl-CoA dehydrogenase 9 deficiency		98
HP:0010996	HP:0010996	Abnormal circulating monocarboxylic acid concentration	0	ACADM CL E G H	34	89	OMIM:201450	Acyl-Coa dehydrogenase, medium-chain, deficiency of		197
HP:0010996	HP:0010996	Abnormal circulating monocarboxylic acid concentration	0	ACADM CL E G H	34	89	ORPHA:42	Medium chain acyl-CoA dehydrogenase deficiency		197
HP:0010996	HP:0010996	Abnormal circulating monocarboxylic acid concentration	0	ACADS CL E G H	35	90	ORPHA:26792	Short chain acyl-CoA dehydrogenase deficiency		90
HP:0010996	HP:0010996	Abnormal circulating monocarboxylic acid concentration	0	ACADVL CL E G H	37	92	OMIM:201475	Very long-chain acyl-CoA dehydrogenase deficiency		200
HP:0010996	HP:0010996	Abnormal circulating monocarboxylic acid concentration	0	AKR1D1 CL E G H	6718	388	ORPHA:79303	Congenital bile acid synthesis defect type 2		62
HP:0010996	HP:0010996	Abnormal circulating monocarboxylic acid concentration	0	AP1B1 CL E G H	162	554	OMIM:242150	Ichthyosiform erythroderma, corneal involvement, and deafness
HP:0010996	HP:0010996	Abnormal circulating monocarboxylic acid concentration	0	ATP8B1 CL E G H	5205	3706	OMIM:243300	Cholestasis, benign recurrent intrahepatic 1		144
HP:0010996	HP:0010996	Abnormal circulating monocarboxylic acid concentration	0	ATP8B1 CL E G H	5205	3706	OMIM:147480	Cholestasis, intrahepatic, of pregnancy, 1		144
HP:0010996	HP:0010996	Abnormal circulating monocarboxylic acid concentration	0	ATP8B1 CL E G H	5205	3706	ORPHA:69665	Intrahepatic cholestasis of pregnancy		144
HP:0010996	HP:0010996	Abnormal circulating monocarboxylic acid concentration	0	COL7A1 CL E G H	1294	2214	ORPHA:89842	Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form		263
HP:0010996	HP:0010996	Abnormal circulating monocarboxylic acid concentration	0	COL7A1 CL E G H	1294	2214	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form		263
HP:0010996	HP:0010996	Abnormal circulating monocarboxylic acid concentration	0	COX16 CL E G H	51241	20213	OMIM:619355	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22; MC4DN22
HP:0010996	HP:0010996	Abnormal circulating monocarboxylic acid concentration	0	CPT2 CL E G H	1376	2330	ORPHA:228302	Carnitine palmitoyl transferase II deficiency, myopathic form		101
HP:0010996	HP:0010996	Abnormal circulating monocarboxylic acid concentration	0	CPT2 CL E G H	1376	2330	ORPHA:228308	Carnitine palmitoyl transferase II deficiency, neonatal form		101
HP:0010996	HP:0010996	Abnormal circulating monocarboxylic acid concentration	0	CPT2 CL E G H	1376	2330	ORPHA:228305	Carnitine palmitoyl transferase II deficiency, severe infantile form		101
HP:0010996	HP:0010996	Abnormal circulating monocarboxylic acid concentration	0	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal		101
HP:0010996	HP:0010996	Abnormal circulating monocarboxylic acid concentration	0	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic		178
HP:0010996	HP:0010996	Abnormal circulating monocarboxylic acid concentration	0	DLD CL E G H	1738	2898	ORPHA:2394	Pyruvate dehydrogenase E3 deficiency		89
HP:0010996	HP:0010996	Abnormal circulating monocarboxylic acid concentration	0	DNAJC21 CL E G H	134218	27030	ORPHA:811	Shwachman-Diamond syndrome		5
HP:0010996	HP:0010996	Abnormal circulating monocarboxylic acid concentration	0	DNM1L CL E G H	10059	2973	OMIM:614388	Encephalopathy due to defective mitochondrial and peroxisomal fission 1		94
HP:0010996	HP:0010996	Abnormal circulating monocarboxylic acid concentration	0	DZIP1L CL E G H	199221	26551	ORPHA:731	Autosomal recessive polycystic kidney disease		4
HP:0010996	HP:0010996	Abnormal circulating monocarboxylic acid concentration	0	EFL1 CL E G H	79631	25789	ORPHA:811	Shwachman-Diamond syndrome		1
HP:0010996	HP:0010996	Abnormal circulating monocarboxylic acid concentration	0	EHHADH CL E G H	1962	3247	ORPHA:3337	Primary Fanconi renotubular syndrome		2
HP:0010996	HP:0010996	Abnormal circulating monocarboxylic acid concentration	0	ETHE1 CL E G H	23474	23287	OMIM:602473	Encephalopathy, ethylmalonic		42
HP:0010996	HP:0010996	Abnormal circulating monocarboxylic acid concentration	0	GATM CL E G H	2628	4175	ORPHA:3337	Primary Fanconi renotubular syndrome		86
HP:0010996	HP:0010996	Abnormal circulating monocarboxylic acid concentration	0	HADH CL E G H	3033	4799	ORPHA:71212	Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency		41
HP:0010996	HP:0010996	Abnormal circulating monocarboxylic acid concentration	0	HADHA CL E G H	3030	4801	OMIM:609015	Mitochondrial trifunctional protein deficiency		99
HP:0010996	HP:0010996	Abnormal circulating monocarboxylic acid concentration	0	HADHB CL E G H	3032	4803	OMIM:609015	Mitochondrial trifunctional protein deficiency		60
HP:0010996	HP:0010996	Abnormal circulating monocarboxylic acid concentration	0	HMGCL CL E G H	3155	5005	OMIM:246450	3-Hydroxy-3-Methylglutaryl-Coa lyase deficiency		35
HP:0010996	HP:0010996	Abnormal circulating monocarboxylic acid concentration	0	KIF12 CL E G H	113220	21495	OMIM:619662	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 8; PFIC8		1
HP:0010996	HP:0010996	Abnormal circulating monocarboxylic acid concentration	0	LMBRD1 CL E G H	55788	23038	ORPHA:79284	Methylmalonic acidemia with homocystinuria type cblF		46
HP:0010996	HP:0010996	Abnormal circulating monocarboxylic acid concentration	0	LMBRD1 CL E G H	55788	23038	OMIM:277380	Methylmalonic aciduria and homocystinuria, Cblf type		46
HP:0010996	HP:0010996	Abnormal circulating monocarboxylic acid concentration	0	MCCC2 CL E G H	64087	6937	OMIM:210210	3-Methylcrotonyl-CoA carboxylase 2 deficiency		77
HP:0010996	HP:0010996	Abnormal circulating monocarboxylic acid concentration	0	MCEE CL E G H	84693	16732	OMIM:251120	Methylmalonyl-Coa epimerase deficiency		19
HP:0010996	HP:0010996	Abnormal circulating monocarboxylic acid concentration	0	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC		101
HP:0010996	HP:0010996	Abnormal circulating monocarboxylic acid concentration	0	MMP1 CL E G H	4312	7155	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form		6
HP:0010996	HP:0010996	Abnormal circulating monocarboxylic acid concentration	0	MYO5B CL E G H	4645	7603	OMIM:619868			192
HP:0010996	HP:0010996	Abnormal circulating monocarboxylic acid concentration	0	NADK2 CL E G H	133686	26404	OMIM:616034	2,4-Dienoyl-Coa reductase deficiency		14
HP:0010996	HP:0010996	Abnormal circulating monocarboxylic acid concentration	0	NADK2 CL E G H	133686	26404	ORPHA:431361	Progressive encephalopathy with leukodystrophy due to DECR deficiency		14
HP:0010996	HP:0010996	Abnormal circulating monocarboxylic acid concentration	0	NDUFAF6 CL E G H	137682	28625	ORPHA:3337	Primary Fanconi renotubular syndrome		39
HP:0010996	HP:0010996	Abnormal circulating monocarboxylic acid concentration	0	NFU1 CL E G H	27247	16287	OMIM:605711	Multiple mitochondrial dysfunctions syndrome 1		34
HP:0010996	HP:0010996	Abnormal circulating monocarboxylic acid concentration	0	NR1H4 CL E G H	9971	7967	ORPHA:69665	Intrahepatic cholestasis of pregnancy		14
HP:0010996	HP:0010996	Abnormal circulating monocarboxylic acid concentration	0	PEX26 CL E G H	55670	22965	OMIM:614872	Peroxisome biogenesis disorder 7A (zellweger)		106
HP:0010996	HP:0010996	Abnormal circulating monocarboxylic acid concentration	0	PKHD1 CL E G H	5314	9016	ORPHA:731	Autosomal recessive polycystic kidney disease		563
HP:0010996	HP:0010996	Abnormal circulating monocarboxylic acid concentration	0	SBDS CL E G H	51119	19440	ORPHA:811	Shwachman-Diamond syndrome		26
HP:0010996	HP:0010996	Abnormal circulating monocarboxylic acid concentration	0	SCO1 CL E G H	6341	10603	OMIM:619048	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 4; MC4DN4		46
HP:0010996	HP:0010996	Abnormal circulating monocarboxylic acid concentration	0	SEMA7A CL E G H	8482	10741	OMIM:619874			5
HP:0010996	HP:0010996	Abnormal circulating monocarboxylic acid concentration	0	SLC10A1 CL E G H	6554	10905	OMIM:619256	HYPERCHOLANEMIA, FAMILIAL, 2; FHCA2
HP:0010996	HP:0010996	Abnormal circulating monocarboxylic acid concentration	0	SLC22A5 CL E G H	6584	10969	OMIM:212140	Carnitine deficiency, systemic primary		207
HP:0010996	HP:0010996	Abnormal circulating monocarboxylic acid concentration	0	SLC25A20 CL E G H	788	1421	ORPHA:159	Carnitine-acylcarnitine translocase deficiency		40
HP:0010996	HP:0010996	Abnormal circulating monocarboxylic acid concentration	0	SLC34A1 CL E G H	6569	11019	ORPHA:3337	Primary Fanconi renotubular syndrome		47
HP:0010996	HP:0010996	Abnormal circulating monocarboxylic acid concentration	0	SLC51B CL E G H	123264	29956	OMIM:619481	BILE ACID MALABSORPTION, PRIMARY, 2; PBAM2
HP:0010996	HP:0010996	Abnormal circulating monocarboxylic acid concentration	0	SLC52A1 CL E G H	55065	30225	OMIM:615026	Riboflavin deficiency		3
HP:0010996	HP:0010996	Abnormal circulating monocarboxylic acid concentration	0	SRP54 CL E G H	6729	11301	ORPHA:811	Shwachman-Diamond syndrome
HP:0010996	HP:0010996	Abnormal circulating monocarboxylic acid concentration	0	TALDO1 CL E G H	6888	11559	ORPHA:101028	Transaldolase deficiency		34
HP:0010996	HP:0010996	Abnormal circulating monocarboxylic acid concentration	0	TANGO2 CL E G H	128989	25439	OMIM:616878	Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration		12
HP:0010996	HP:0010996	Abnormal circulating monocarboxylic acid concentration	0	TANGO2 CL E G H	128989	25439	ORPHA:480864	Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome		12
HP:0010996	HP:0010996	Abnormal circulating monocarboxylic acid concentration	0	TJP2 CL E G H	9414	11828	OMIM:607748	Hypercholanemia, familial		149
HP:0010996	HP:0010996	Abnormal circulating monocarboxylic acid concentration	0	TRMU CL E G H	55687	25481	ORPHA:254864	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency		101
HP:0010996	HP:0010996	Abnormal circulating monocarboxylic acid concentration	0	TRNE CL E G H	4556	7479	ORPHA:254864	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
HP:0010996	HP:0010996	Abnormal circulating monocarboxylic acid concentration	0	UNC45A CL E G H	55898	30594	OMIM:619377	OSTEOOTOHEPATOENTERIC SYNDROME; OOHE
HP:0010996	HP:0010996	Abnormal circulating monocarboxylic acid concentration	0	VPS33B CL E G H	26276	12712	OMIM:620010			63
HP:0010996	HP:0010996	Abnormal circulating monocarboxylic acid concentration	0	VPS50 CL E G H	55610	25956	OMIM:619685	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS; NEDMSC
HP:0010996	HP:0410154	Increased level of myristic acid in serum	1	CL E G H
HP:0010996	HP:0033324	Elevated circulating homovanillic acid concentration	1	CL E G H
HP:0010996	HP:0033302	Elevated circulating 4-hydroxyphenylacetic acid concentration	1	CL E G H
HP:0010996	HP:0025641	Elevated circulating glycolate concentration	1	CL E G H
HP:0010996	HP:0033435	Abnormal circulating keto acid concentration	1	CL E G H
HP:0010996	HP:0030984	Abnormal serum bile acid concentration	1	ABCB11 CL E G H	8647	42	ORPHA:69665	Intrahepatic cholestasis of pregnancy		146
HP:0010996	HP:0030984	Abnormal serum bile acid concentration	1	ABCB4 CL E G H	5244	45	OMIM:614972	Cholestasis, intrahepatic, of pregnancy 3		111
HP:0010996	HP:0030984	Abnormal serum bile acid concentration	1	ABCB4 CL E G H	5244	45	ORPHA:69665	Intrahepatic cholestasis of pregnancy		111
HP:0010996	HP:0030984	Abnormal serum bile acid concentration	1	ABCD3 CL E G H	5825	67	OMIM:616278	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5; CBAS5		5
HP:0010996	HP:0010966	Abnormal circulating fatty-acid anion concentration	1	ABCD4 CL E G H	5826	68	OMIM:614857	Methylmalonic aciduria and homocystinuria, Cblj type		53
HP:0010996	HP:0010966	Abnormal circulating fatty-acid anion concentration	1	ACAD8 CL E G H	27034	87	OMIM:611283	Isobutyryl-CoA dehydrogenase deficiency		58
HP:0010996	HP:0010966	Abnormal circulating fatty-acid anion concentration	1	ACAD8 CL E G H	27034	87	ORPHA:79159	Isobutyryl-CoA dehydrogenase deficiency		58
HP:0010996	HP:0010966	Abnormal circulating fatty-acid anion concentration	1	ACAD9 CL E G H	28976	21497	ORPHA:99901	Acyl-CoA dehydrogenase 9 deficiency		98
HP:0010996	HP:0010966	Abnormal circulating fatty-acid anion concentration	1	ACADM CL E G H	34	89	OMIM:201450	Acyl-Coa dehydrogenase, medium-chain, deficiency of		197
HP:0010996	HP:0010966	Abnormal circulating fatty-acid anion concentration	1	ACADM CL E G H	34	89	ORPHA:42	Medium chain acyl-CoA dehydrogenase deficiency		197
HP:0010996	HP:0010966	Abnormal circulating fatty-acid anion concentration	1	ACADS CL E G H	35	90	ORPHA:26792	Short chain acyl-CoA dehydrogenase deficiency		90
HP:0010996	HP:0010966	Abnormal circulating fatty-acid anion concentration	1	ACADVL CL E G H	37	92	OMIM:201475	Very long-chain acyl-CoA dehydrogenase deficiency		200
HP:0010996	HP:0030984	Abnormal serum bile acid concentration	1	AKR1D1 CL E G H	6718	388	ORPHA:79303	Congenital bile acid synthesis defect type 2		62
HP:0010996	HP:0030984	Abnormal serum bile acid concentration	1	AP1B1 CL E G H	162	554	OMIM:242150	Ichthyosiform erythroderma, corneal involvement, and deafness
HP:0010996	HP:0030984	Abnormal serum bile acid concentration	1	ATP8B1 CL E G H	5205	3706	OMIM:243300	Cholestasis, benign recurrent intrahepatic 1		144
HP:0010996	HP:0030984	Abnormal serum bile acid concentration	1	ATP8B1 CL E G H	5205	3706	OMIM:147480	Cholestasis, intrahepatic, of pregnancy, 1		144
HP:0010996	HP:0030984	Abnormal serum bile acid concentration	1	ATP8B1 CL E G H	5205	3706	ORPHA:69665	Intrahepatic cholestasis of pregnancy		144
HP:0010996	HP:0010966	Abnormal circulating fatty-acid anion concentration	1	COL7A1 CL E G H	1294	2214	ORPHA:89842	Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form		263
HP:0010996	HP:0010966	Abnormal circulating fatty-acid anion concentration	1	COL7A1 CL E G H	1294	2214	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form		263
HP:0010996	HP:0010966	Abnormal circulating fatty-acid anion concentration	1	COX16 CL E G H	51241	20213	OMIM:619355	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22; MC4DN22
HP:0010996	HP:0010966	Abnormal circulating fatty-acid anion concentration	1	CPT2 CL E G H	1376	2330	ORPHA:228302	Carnitine palmitoyl transferase II deficiency, myopathic form		101
HP:0010996	HP:0010966	Abnormal circulating fatty-acid anion concentration	1	CPT2 CL E G H	1376	2330	ORPHA:228308	Carnitine palmitoyl transferase II deficiency, neonatal form		101
HP:0010996	HP:0010966	Abnormal circulating fatty-acid anion concentration	1	CPT2 CL E G H	1376	2330	ORPHA:228305	Carnitine palmitoyl transferase II deficiency, severe infantile form		101
HP:0010996	HP:0010966	Abnormal circulating fatty-acid anion concentration	1	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal		101
HP:0010996	HP:0010966	Abnormal circulating fatty-acid anion concentration	1	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic		178
HP:0010996	HP:0010966	Abnormal circulating fatty-acid anion concentration	1	DLD CL E G H	1738	2898	ORPHA:2394	Pyruvate dehydrogenase E3 deficiency		89
HP:0010996	HP:0030984	Abnormal serum bile acid concentration	1	DNAJC21 CL E G H	134218	27030	ORPHA:811	Shwachman-Diamond syndrome		5
HP:0010996	HP:0010966	Abnormal circulating fatty-acid anion concentration	1	DNM1L CL E G H	10059	2973	OMIM:614388	Encephalopathy due to defective mitochondrial and peroxisomal fission 1		94
HP:0010996	HP:0030984	Abnormal serum bile acid concentration	1	DZIP1L CL E G H	199221	26551	ORPHA:731	Autosomal recessive polycystic kidney disease		4
HP:0010996	HP:0030984	Abnormal serum bile acid concentration	1	EFL1 CL E G H	79631	25789	ORPHA:811	Shwachman-Diamond syndrome		1
HP:0010996	HP:0010966	Abnormal circulating fatty-acid anion concentration	1	EHHADH CL E G H	1962	3247	ORPHA:3337	Primary Fanconi renotubular syndrome		2
HP:0010996	HP:0010966	Abnormal circulating fatty-acid anion concentration	1	ETHE1 CL E G H	23474	23287	OMIM:602473	Encephalopathy, ethylmalonic		42
HP:0010996	HP:0010966	Abnormal circulating fatty-acid anion concentration	1	GATM CL E G H	2628	4175	ORPHA:3337	Primary Fanconi renotubular syndrome		86
HP:0010996	HP:0010966	Abnormal circulating fatty-acid anion concentration	1	HADH CL E G H	3033	4799	ORPHA:71212	Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency		41
HP:0010996	HP:0010966	Abnormal circulating fatty-acid anion concentration	1	HADHA CL E G H	3030	4801	OMIM:609015	Mitochondrial trifunctional protein deficiency		99
HP:0010996	HP:0010966	Abnormal circulating fatty-acid anion concentration	1	HADHB CL E G H	3032	4803	OMIM:609015	Mitochondrial trifunctional protein deficiency		60
HP:0010996	HP:0010966	Abnormal circulating fatty-acid anion concentration	1	HMGCL CL E G H	3155	5005	OMIM:246450	3-Hydroxy-3-Methylglutaryl-Coa lyase deficiency		35
HP:0010996	HP:0030984	Abnormal serum bile acid concentration	1	KIF12 CL E G H	113220	21495	OMIM:619662	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 8; PFIC8		1
HP:0010996	HP:0010966	Abnormal circulating fatty-acid anion concentration	1	LMBRD1 CL E G H	55788	23038	ORPHA:79284	Methylmalonic acidemia with homocystinuria type cblF		46
HP:0010996	HP:0010966	Abnormal circulating fatty-acid anion concentration	1	LMBRD1 CL E G H	55788	23038	OMIM:277380	Methylmalonic aciduria and homocystinuria, Cblf type		46
HP:0010996	HP:0010966	Abnormal circulating fatty-acid anion concentration	1	MCCC2 CL E G H	64087	6937	OMIM:210210	3-Methylcrotonyl-CoA carboxylase 2 deficiency		77
HP:0010996	HP:0010966	Abnormal circulating fatty-acid anion concentration	1	MCEE CL E G H	84693	16732	OMIM:251120	Methylmalonyl-Coa epimerase deficiency		19
HP:0010996	HP:0010966	Abnormal circulating fatty-acid anion concentration	1	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC		101
HP:0010996	HP:0010966	Abnormal circulating fatty-acid anion concentration	1	MMP1 CL E G H	4312	7155	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form		6
HP:0010996	HP:0030984	Abnormal serum bile acid concentration	1	MYO5B CL E G H	4645	7603	OMIM:619868			192
HP:0010996	HP:0010966	Abnormal circulating fatty-acid anion concentration	1	NADK2 CL E G H	133686	26404	OMIM:616034	2,4-Dienoyl-Coa reductase deficiency		14
HP:0010996	HP:0010966	Abnormal circulating fatty-acid anion concentration	1	NADK2 CL E G H	133686	26404	ORPHA:431361	Progressive encephalopathy with leukodystrophy due to DECR deficiency		14
HP:0010996	HP:0010966	Abnormal circulating fatty-acid anion concentration	1	NDUFAF6 CL E G H	137682	28625	ORPHA:3337	Primary Fanconi renotubular syndrome		39
HP:0010996	HP:0033417	Elevated circulating hydroxybutyric acid concentration	1	NFU1 CL E G H	27247	16287	OMIM:605711	Multiple mitochondrial dysfunctions syndrome 1		34
HP:0010996	HP:0030984	Abnormal serum bile acid concentration	1	NR1H4 CL E G H	9971	7967	ORPHA:69665	Intrahepatic cholestasis of pregnancy		14
HP:0010996	HP:0010966	Abnormal circulating fatty-acid anion concentration	1	PEX26 CL E G H	55670	22965	OMIM:614872	Peroxisome biogenesis disorder 7A (zellweger)		106
HP:0010996	HP:0030984	Abnormal serum bile acid concentration	1	PKHD1 CL E G H	5314	9016	ORPHA:731	Autosomal recessive polycystic kidney disease		563
HP:0010996	HP:0030984	Abnormal serum bile acid concentration	1	SBDS CL E G H	51119	19440	ORPHA:811	Shwachman-Diamond syndrome		26
HP:0010996	HP:0010966	Abnormal circulating fatty-acid anion concentration	1	SCO1 CL E G H	6341	10603	OMIM:619048	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 4; MC4DN4		46
HP:0010996	HP:0030984	Abnormal serum bile acid concentration	1	SEMA7A CL E G H	8482	10741	OMIM:619874			5
HP:0010996	HP:0030984	Abnormal serum bile acid concentration	1	SLC10A1 CL E G H	6554	10905	OMIM:619256	HYPERCHOLANEMIA, FAMILIAL, 2; FHCA2
HP:0010996	HP:0010966	Abnormal circulating fatty-acid anion concentration	1	SLC22A5 CL E G H	6584	10969	OMIM:212140	Carnitine deficiency, systemic primary		207
HP:0010996	HP:0010966	Abnormal circulating fatty-acid anion concentration	1	SLC25A20 CL E G H	788	1421	ORPHA:159	Carnitine-acylcarnitine translocase deficiency		40
HP:0010996	HP:0010966	Abnormal circulating fatty-acid anion concentration	1	SLC34A1 CL E G H	6569	11019	ORPHA:3337	Primary Fanconi renotubular syndrome		47
HP:0010996	HP:0030984	Abnormal serum bile acid concentration	1	SLC51B CL E G H	123264	29956	OMIM:619481	BILE ACID MALABSORPTION, PRIMARY, 2; PBAM2
HP:0010996	HP:0010966	Abnormal circulating fatty-acid anion concentration	1	SLC52A1 CL E G H	55065	30225	OMIM:615026	Riboflavin deficiency		3
HP:0010996	HP:0030984	Abnormal serum bile acid concentration	1	SRP54 CL E G H	6729	11301	ORPHA:811	Shwachman-Diamond syndrome
HP:0010996	HP:0030984	Abnormal serum bile acid concentration	1	TALDO1 CL E G H	6888	11559	ORPHA:101028	Transaldolase deficiency		34
HP:0010996	HP:0010966	Abnormal circulating fatty-acid anion concentration	1	TANGO2 CL E G H	128989	25439	OMIM:616878	Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration		12
HP:0010996	HP:0010966	Abnormal circulating fatty-acid anion concentration	1	TANGO2 CL E G H	128989	25439	ORPHA:480864	Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome		12
HP:0010996	HP:0030984	Abnormal serum bile acid concentration	1	TJP2 CL E G H	9414	11828	OMIM:607748	Hypercholanemia, familial		149
HP:0010996	HP:0010966	Abnormal circulating fatty-acid anion concentration	1	TRMU CL E G H	55687	25481	ORPHA:254864	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency		101
HP:0010996	HP:0010966	Abnormal circulating fatty-acid anion concentration	1	TRNE CL E G H	4556	7479	ORPHA:254864	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
HP:0010996	HP:0030984	Abnormal serum bile acid concentration	1	UNC45A CL E G H	55898	30594	OMIM:619377	OSTEOOTOHEPATOENTERIC SYNDROME; OOHE
HP:0010996	HP:0030984	Abnormal serum bile acid concentration	1	VPS33B CL E G H	26276	12712	OMIM:620010			63
HP:0010996	HP:0030984	Abnormal serum bile acid concentration	1	VPS50 CL E G H	55610	25956	OMIM:619685	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS; NEDMSC
HP:0010996	HP:0033437	Elevated circulating 4-methyl-2-oxopentanoic acid concentration	2	CL E G H
HP:0010996	HP:0033436	Elevated circulating 3-methyl-2-oxovaleric acid concentration	2	CL E G H
HP:0010996	HP:0033419	Elevated circulating 3-hydroxybutyric acid concentration	2	CL E G H
HP:0010996	HP:0012202	Increased serum bile acid concentration	2	ABCB11 CL E G H	8647	42	ORPHA:69665	Intrahepatic cholestasis of pregnancy	HP:0040281 - Very frequent	146
HP:0010996	HP:0012202	Increased serum bile acid concentration	2	ABCB4 CL E G H	5244	45	OMIM:614972	Cholestasis, intrahepatic, of pregnancy 3		111
HP:0010996	HP:0012202	Increased serum bile acid concentration	2	ABCB4 CL E G H	5244	45	ORPHA:69665	Intrahepatic cholestasis of pregnancy	HP:0040281 - Very frequent	111
HP:0010996	HP:0012202	Increased serum bile acid concentration	2	ABCD3 CL E G H	5825	67	OMIM:616278	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5; CBAS5		5
HP:0010996	HP:0010967	Abnormal circulating carnitine concentration	2	ABCD4 CL E G H	5826	68	OMIM:614857	Methylmalonic aciduria and homocystinuria, Cblj type		53
HP:0010996	HP:0010967	Abnormal circulating carnitine concentration	2	ACAD8 CL E G H	27034	87	OMIM:611283	Isobutyryl-CoA dehydrogenase deficiency		58
HP:0010996	HP:0010967	Abnormal circulating carnitine concentration	2	ACAD8 CL E G H	27034	87	ORPHA:79159	Isobutyryl-CoA dehydrogenase deficiency		58
HP:0010996	HP:0010967	Abnormal circulating carnitine concentration	2	ACAD9 CL E G H	28976	21497	ORPHA:99901	Acyl-CoA dehydrogenase 9 deficiency		98
HP:0010996	HP:0010967	Abnormal circulating carnitine concentration	2	ACADM CL E G H	34	89	OMIM:201450	Acyl-Coa dehydrogenase, medium-chain, deficiency of		197
HP:0010996	HP:0010967	Abnormal circulating carnitine concentration	2	ACADM CL E G H	34	89	ORPHA:42	Medium chain acyl-CoA dehydrogenase deficiency		197
HP:0010996	HP:0010967	Abnormal circulating carnitine concentration	2	ACADS CL E G H	35	90	ORPHA:26792	Short chain acyl-CoA dehydrogenase deficiency		90
HP:0010996	HP:0010967	Abnormal circulating carnitine concentration	2	ACADVL CL E G H	37	92	OMIM:201475	Very long-chain acyl-CoA dehydrogenase deficiency		200
HP:0010996	HP:0012202	Increased serum bile acid concentration	2	AP1B1 CL E G H	162	554	OMIM:242150	Ichthyosiform erythroderma, corneal involvement, and deafness
HP:0010996	HP:0012202	Increased serum bile acid concentration	2	ATP8B1 CL E G H	5205	3706	OMIM:243300	Cholestasis, benign recurrent intrahepatic 1	.	144
HP:0010996	HP:0012202	Increased serum bile acid concentration	2	ATP8B1 CL E G H	5205	3706	OMIM:147480	Cholestasis, intrahepatic, of pregnancy, 1		144
HP:0010996	HP:0012202	Increased serum bile acid concentration	2	ATP8B1 CL E G H	5205	3706	ORPHA:69665	Intrahepatic cholestasis of pregnancy	HP:0040281 - Very frequent	144
HP:0010996	HP:0010967	Abnormal circulating carnitine concentration	2	COL7A1 CL E G H	1294	2214	ORPHA:89842	Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form		263
HP:0010996	HP:0010967	Abnormal circulating carnitine concentration	2	COL7A1 CL E G H	1294	2214	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form		263
HP:0010996	HP:0010967	Abnormal circulating carnitine concentration	2	COX16 CL E G H	51241	20213	OMIM:619355	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22; MC4DN22
HP:0010996	HP:0010967	Abnormal circulating carnitine concentration	2	CPT2 CL E G H	1376	2330	ORPHA:228302	Carnitine palmitoyl transferase II deficiency, myopathic form		101
HP:0010996	HP:0010967	Abnormal circulating carnitine concentration	2	CPT2 CL E G H	1376	2330	ORPHA:228308	Carnitine palmitoyl transferase II deficiency, neonatal form		101
HP:0010996	HP:0010967	Abnormal circulating carnitine concentration	2	CPT2 CL E G H	1376	2330	ORPHA:228305	Carnitine palmitoyl transferase II deficiency, severe infantile form		101
HP:0010996	HP:0010967	Abnormal circulating carnitine concentration	2	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal		101
HP:0010996	HP:0010967	Abnormal circulating carnitine concentration	2	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic		178
HP:0010996	HP:0010967	Abnormal circulating carnitine concentration	2	DLD CL E G H	1738	2898	ORPHA:2394	Pyruvate dehydrogenase E3 deficiency		89
HP:0010996	HP:0012202	Increased serum bile acid concentration	2	DNAJC21 CL E G H	134218	27030	ORPHA:811	Shwachman-Diamond syndrome	HP:0040282 - Frequent	5
HP:0010996	HP:0034298	Elevated circulating hexacosanoic acid concentration	2	DNM1L CL E G H	10059	2973	OMIM:614388	Encephalopathy due to defective mitochondrial and peroxisomal fission 1		94
HP:0010996	HP:0012202	Increased serum bile acid concentration	2	DZIP1L CL E G H	199221	26551	ORPHA:731	Autosomal recessive polycystic kidney disease	HP:0040282 - Frequent	4
HP:0010996	HP:0012202	Increased serum bile acid concentration	2	EFL1 CL E G H	79631	25789	ORPHA:811	Shwachman-Diamond syndrome	HP:0040282 - Frequent	1
HP:0010996	HP:0010967	Abnormal circulating carnitine concentration	2	EHHADH CL E G H	1962	3247	ORPHA:3337	Primary Fanconi renotubular syndrome		2
HP:0010996	HP:0010967	Abnormal circulating carnitine concentration	2	ETHE1 CL E G H	23474	23287	OMIM:602473	Encephalopathy, ethylmalonic		42
HP:0010996	HP:0010967	Abnormal circulating carnitine concentration	2	GATM CL E G H	2628	4175	ORPHA:3337	Primary Fanconi renotubular syndrome		86
HP:0010996	HP:0010967	Abnormal circulating carnitine concentration	2	HADH CL E G H	3033	4799	ORPHA:71212	Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency		41
HP:0010996	HP:0010967	Abnormal circulating carnitine concentration	2	HADHA CL E G H	3030	4801	OMIM:609015	Mitochondrial trifunctional protein deficiency		99
HP:0010996	HP:0010967	Abnormal circulating carnitine concentration	2	HADHB CL E G H	3032	4803	OMIM:609015	Mitochondrial trifunctional protein deficiency		60
HP:0010996	HP:0010967	Abnormal circulating carnitine concentration	2	HMGCL CL E G H	3155	5005	OMIM:246450	3-Hydroxy-3-Methylglutaryl-Coa lyase deficiency		35
HP:0010996	HP:0012202	Increased serum bile acid concentration	2	KIF12 CL E G H	113220	21495	OMIM:619662	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 8; PFIC8		1
HP:0010996	HP:0010967	Abnormal circulating carnitine concentration	2	LMBRD1 CL E G H	55788	23038	ORPHA:79284	Methylmalonic acidemia with homocystinuria type cblF		46
HP:0010996	HP:0010967	Abnormal circulating carnitine concentration	2	LMBRD1 CL E G H	55788	23038	OMIM:277380	Methylmalonic aciduria and homocystinuria, Cblf type		46
HP:0010996	HP:0010967	Abnormal circulating carnitine concentration	2	MCCC2 CL E G H	64087	6937	OMIM:210210	3-Methylcrotonyl-CoA carboxylase 2 deficiency		77
HP:0010996	HP:0010967	Abnormal circulating carnitine concentration	2	MCEE CL E G H	84693	16732	OMIM:251120	Methylmalonyl-Coa epimerase deficiency		19
HP:0010996	HP:0010967	Abnormal circulating carnitine concentration	2	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC		101
HP:0010996	HP:0010967	Abnormal circulating carnitine concentration	2	MMP1 CL E G H	4312	7155	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form		6
HP:0010996	HP:0012202	Increased serum bile acid concentration	2	MYO5B CL E G H	4645	7603	OMIM:619868			192
HP:0010996	HP:0010967	Abnormal circulating carnitine concentration	2	NADK2 CL E G H	133686	26404	OMIM:616034	2,4-Dienoyl-Coa reductase deficiency		14
HP:0010996	HP:0010967	Abnormal circulating carnitine concentration	2	NADK2 CL E G H	133686	26404	ORPHA:431361	Progressive encephalopathy with leukodystrophy due to DECR deficiency	HP:0040282 - Frequent	14
HP:0010996	HP:0010967	Abnormal circulating carnitine concentration	2	NDUFAF6 CL E G H	137682	28625	ORPHA:3337	Primary Fanconi renotubular syndrome		39
HP:0010996	HP:0033418	Elevated circulating 2-hydroxybutyric acid concentration	2	NFU1 CL E G H	27247	16287	OMIM:605711	Multiple mitochondrial dysfunctions syndrome 1		34
HP:0010996	HP:0012202	Increased serum bile acid concentration	2	NR1H4 CL E G H	9971	7967	ORPHA:69665	Intrahepatic cholestasis of pregnancy	HP:0040281 - Very frequent	14
HP:0010996	HP:0034298	Elevated circulating hexacosanoic acid concentration	2	PEX26 CL E G H	55670	22965	OMIM:614872	Peroxisome biogenesis disorder 7A (zellweger)		106
HP:0010996	HP:0034297	Elevated circulating tetracosanoic acid concentration	2	PEX26 CL E G H	55670	22965	OMIM:614872	Peroxisome biogenesis disorder 7A (zellweger)		106
HP:0010996	HP:0012202	Increased serum bile acid concentration	2	PKHD1 CL E G H	5314	9016	ORPHA:731	Autosomal recessive polycystic kidney disease	HP:0040282 - Frequent	563
HP:0010996	HP:0012202	Increased serum bile acid concentration	2	SBDS CL E G H	51119	19440	ORPHA:811	Shwachman-Diamond syndrome	HP:0040282 - Frequent	26
HP:0010996	HP:0010967	Abnormal circulating carnitine concentration	2	SCO1 CL E G H	6341	10603	OMIM:619048	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 4; MC4DN4		46
HP:0010996	HP:0012202	Increased serum bile acid concentration	2	SEMA7A CL E G H	8482	10741	OMIM:619874			5
HP:0010996	HP:0012202	Increased serum bile acid concentration	2	SLC10A1 CL E G H	6554	10905	OMIM:619256	HYPERCHOLANEMIA, FAMILIAL, 2; FHCA2
HP:0010996	HP:0010967	Abnormal circulating carnitine concentration	2	SLC22A5 CL E G H	6584	10969	OMIM:212140	Carnitine deficiency, systemic primary		207
HP:0010996	HP:0010967	Abnormal circulating carnitine concentration	2	SLC25A20 CL E G H	788	1421	ORPHA:159	Carnitine-acylcarnitine translocase deficiency		40
HP:0010996	HP:0010967	Abnormal circulating carnitine concentration	2	SLC34A1 CL E G H	6569	11019	ORPHA:3337	Primary Fanconi renotubular syndrome		47
HP:0010996	HP:0030985	Decreased serum bile acid concentration	2	SLC51B CL E G H	123264	29956	OMIM:619481	BILE ACID MALABSORPTION, PRIMARY, 2; PBAM2
HP:0010996	HP:0010967	Abnormal circulating carnitine concentration	2	SLC52A1 CL E G H	55065	30225	OMIM:615026	Riboflavin deficiency		3
HP:0010996	HP:0012202	Increased serum bile acid concentration	2	SRP54 CL E G H	6729	11301	ORPHA:811	Shwachman-Diamond syndrome	HP:0040282 - Frequent
HP:0010996	HP:0012202	Increased serum bile acid concentration	2	TALDO1 CL E G H	6888	11559	ORPHA:101028	Transaldolase deficiency	HP:0040281 - Very frequent	34
HP:0010996	HP:0010967	Abnormal circulating carnitine concentration	2	TANGO2 CL E G H	128989	25439	OMIM:616878	Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration		12
HP:0010996	HP:0010967	Abnormal circulating carnitine concentration	2	TANGO2 CL E G H	128989	25439	ORPHA:480864	Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome		12
HP:0010996	HP:0012202	Increased serum bile acid concentration	2	TJP2 CL E G H	9414	11828	OMIM:607748	Hypercholanemia, familial	.	149
HP:0010996	HP:0010967	Abnormal circulating carnitine concentration	2	TRMU CL E G H	55687	25481	ORPHA:254864	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency		101
HP:0010996	HP:0010967	Abnormal circulating carnitine concentration	2	TRNE CL E G H	4556	7479	ORPHA:254864	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
HP:0010996	HP:0012202	Increased serum bile acid concentration	2	UNC45A CL E G H	55898	30594	OMIM:619377	OSTEOOTOHEPATOENTERIC SYNDROME; OOHE
HP:0010996	HP:0012202	Increased serum bile acid concentration	2	VPS33B CL E G H	26276	12712	OMIM:620010			63
HP:0010996	HP:0012202	Increased serum bile acid concentration	2	VPS50 CL E G H	55610	25956	OMIM:619685	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS; NEDMSC
HP:0010996	HP:0200150	Increased serum bile acid concentration during pregnancy	3	ABCB4 CL E G H	5244	45	OMIM:614972	Cholestasis, intrahepatic, of pregnancy 3	.	111
HP:0010996	HP:0012071	Abnormal circulating acetylcarnitine concentration	3	ABCD4 CL E G H	5826	68	OMIM:614857	Methylmalonic aciduria and homocystinuria, Cblj type		53
HP:0010996	HP:0012071	Abnormal circulating acetylcarnitine concentration	3	ACAD8 CL E G H	27034	87	ORPHA:79159	Isobutyryl-CoA dehydrogenase deficiency		58
HP:0010996	HP:0003234	Decreased plasma carnitine	3	ACAD8 CL E G H	27034	87	OMIM:611283	Isobutyryl-CoA dehydrogenase deficiency	.	58
HP:0010996	HP:0003234	Decreased plasma carnitine	3	ACAD8 CL E G H	27034	87	ORPHA:79159	Isobutyryl-CoA dehydrogenase deficiency	HP:0040282 - Frequent	58
HP:0010996	HP:0012071	Abnormal circulating acetylcarnitine concentration	3	ACAD9 CL E G H	28976	21497	ORPHA:99901	Acyl-CoA dehydrogenase 9 deficiency		98
HP:0010996	HP:0003234	Decreased plasma carnitine	3	ACAD9 CL E G H	28976	21497	ORPHA:99901	Acyl-CoA dehydrogenase 9 deficiency	HP:0040282 - Frequent	98
HP:0010996	HP:0003234	Decreased plasma carnitine	3	ACADM CL E G H	34	89	OMIM:201450	Acyl-Coa dehydrogenase, medium-chain, deficiency of	.	197
HP:0010996	HP:0003234	Decreased plasma carnitine	3	ACADM CL E G H	34	89	ORPHA:42	Medium chain acyl-CoA dehydrogenase deficiency		197
HP:0010996	HP:0012071	Abnormal circulating acetylcarnitine concentration	3	ACADS CL E G H	35	90	ORPHA:26792	Short chain acyl-CoA dehydrogenase deficiency		90
HP:0010996	HP:0003234	Decreased plasma carnitine	3	ACADVL CL E G H	37	92	OMIM:201475	Very long-chain acyl-CoA dehydrogenase deficiency		200
HP:0010996	HP:0200150	Increased serum bile acid concentration during pregnancy	3	ATP8B1 CL E G H	5205	3706	OMIM:147480	Cholestasis, intrahepatic, of pregnancy, 1	.	144
HP:0010996	HP:0003234	Decreased plasma carnitine	3	COL7A1 CL E G H	1294	2214	ORPHA:89842	Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form	HP:0040282 - Frequent	263
HP:0010996	HP:0003234	Decreased plasma carnitine	3	COL7A1 CL E G H	1294	2214	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form		263
HP:0010996	HP:0012071	Abnormal circulating acetylcarnitine concentration	3	COX16 CL E G H	51241	20213	OMIM:619355	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22; MC4DN22
HP:0010996	HP:0012071	Abnormal circulating acetylcarnitine concentration	3	CPT2 CL E G H	1376	2330	ORPHA:228302	Carnitine palmitoyl transferase II deficiency, myopathic form		101
HP:0010996	HP:0003234	Decreased plasma carnitine	3	CPT2 CL E G H	1376	2330	ORPHA:228308	Carnitine palmitoyl transferase II deficiency, neonatal form		101
HP:0010996	HP:0012071	Abnormal circulating acetylcarnitine concentration	3	CPT2 CL E G H	1376	2330	ORPHA:228308	Carnitine palmitoyl transferase II deficiency, neonatal form		101
HP:0010996	HP:0012071	Abnormal circulating acetylcarnitine concentration	3	CPT2 CL E G H	1376	2330	ORPHA:228305	Carnitine palmitoyl transferase II deficiency, severe infantile form		101
HP:0010996	HP:0003234	Decreased plasma carnitine	3	CPT2 CL E G H	1376	2330	ORPHA:228305	Carnitine palmitoyl transferase II deficiency, severe infantile form		101
HP:0010996	HP:0003234	Decreased plasma carnitine	3	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal		101
HP:0010996	HP:0003234	Decreased plasma carnitine	3	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic	.	178
HP:0010996	HP:0003234	Decreased plasma carnitine	3	DLD CL E G H	1738	2898	ORPHA:2394	Pyruvate dehydrogenase E3 deficiency	HP:0040283 - Occasional	89
HP:0010996	HP:0003234	Decreased plasma carnitine	3	EHHADH CL E G H	1962	3247	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040282 - Frequent	2
HP:0010996	HP:0012071	Abnormal circulating acetylcarnitine concentration	3	ETHE1 CL E G H	23474	23287	OMIM:602473	Encephalopathy, ethylmalonic		42
HP:0010996	HP:0003234	Decreased plasma carnitine	3	GATM CL E G H	2628	4175	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040282 - Frequent	86
HP:0010996	HP:0012071	Abnormal circulating acetylcarnitine concentration	3	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:0010996	HP:0003234	Decreased plasma carnitine	3	HADH CL E G H	3033	4799	ORPHA:71212	Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency	HP:0040283 - Occasional	41
HP:0010996	HP:0012071	Abnormal circulating acetylcarnitine concentration	3	HADHA CL E G H	3030	4801	OMIM:609015	Mitochondrial trifunctional protein deficiency		99
HP:0010996	HP:0012071	Abnormal circulating acetylcarnitine concentration	3	HADHB CL E G H	3032	4803	OMIM:609015	Mitochondrial trifunctional protein deficiency		60
HP:0010996	HP:0003234	Decreased plasma carnitine	3	HMGCL CL E G H	3155	5005	OMIM:246450	3-Hydroxy-3-Methylglutaryl-Coa lyase deficiency	.	35
HP:0010996	HP:0012071	Abnormal circulating acetylcarnitine concentration	3	LMBRD1 CL E G H	55788	23038	ORPHA:79284	Methylmalonic acidemia with homocystinuria type cblF		46
HP:0010996	HP:0012071	Abnormal circulating acetylcarnitine concentration	3	LMBRD1 CL E G H	55788	23038	OMIM:277380	Methylmalonic aciduria and homocystinuria, Cblf type		46
HP:0010996	HP:0003234	Decreased plasma carnitine	3	MCCC2 CL E G H	64087	6937	OMIM:210210	3-Methylcrotonyl-CoA carboxylase 2 deficiency		77
HP:0010996	HP:0012071	Abnormal circulating acetylcarnitine concentration	3	MCEE CL E G H	84693	16732	OMIM:251120	Methylmalonyl-Coa epimerase deficiency		19
HP:0010996	HP:0012071	Abnormal circulating acetylcarnitine concentration	3	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC		101
HP:0010996	HP:0003234	Decreased plasma carnitine	3	MMP1 CL E G H	4312	7155	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form		6
HP:0010996	HP:0003234	Decreased plasma carnitine	3	NADK2 CL E G H	133686	26404	OMIM:616034	2,4-Dienoyl-Coa reductase deficiency		14
HP:0010996	HP:0003234	Decreased plasma carnitine	3	NADK2 CL E G H	133686	26404	ORPHA:431361	Progressive encephalopathy with leukodystrophy due to DECR deficiency	HP:0040282 - Frequent	14
HP:0010996	HP:0003234	Decreased plasma carnitine	3	NDUFAF6 CL E G H	137682	28625	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040282 - Frequent	39
HP:0010996	HP:0003234	Decreased plasma carnitine	3	SCO1 CL E G H	6341	10603	OMIM:619048	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 4; MC4DN4		46
HP:0010996	HP:0003234	Decreased plasma carnitine	3	SLC22A5 CL E G H	6584	10969	OMIM:212140	Carnitine deficiency, systemic primary	.	207
HP:0010996	HP:0012071	Abnormal circulating acetylcarnitine concentration	3	SLC25A20 CL E G H	788	1421	ORPHA:159	Carnitine-acylcarnitine translocase deficiency		40
HP:0010996	HP:0003234	Decreased plasma carnitine	3	SLC25A20 CL E G H	788	1421	ORPHA:159	Carnitine-acylcarnitine translocase deficiency	HP:0040281 - Very frequent	40
HP:0010996	HP:0003234	Decreased plasma carnitine	3	SLC34A1 CL E G H	6569	11019	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040282 - Frequent	47
HP:0010996	HP:0034048	Decreased circulating chenodeoxycholic acid concentration	3	SLC51B CL E G H	123264	29956	OMIM:619481	BILE ACID MALABSORPTION, PRIMARY, 2; PBAM2
HP:0010996	HP:0012071	Abnormal circulating acetylcarnitine concentration	3	SLC52A1 CL E G H	55065	30225	OMIM:615026	Riboflavin deficiency		3
HP:0010996	HP:0012071	Abnormal circulating acetylcarnitine concentration	3	TANGO2 CL E G H	128989	25439	OMIM:616878	Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration		12
HP:0010996	HP:0012071	Abnormal circulating acetylcarnitine concentration	3	TANGO2 CL E G H	128989	25439	ORPHA:480864	Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome		12
HP:0010996	HP:0003234	Decreased plasma carnitine	3	TRMU CL E G H	55687	25481	ORPHA:254864	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency	HP:0040283 - Occasional	101
HP:0010996	HP:0003234	Decreased plasma carnitine	3	TRNE CL E G H	4556	7479	ORPHA:254864	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency	HP:0040283 - Occasional
HP:0010996	HP:0033382	Elevated circulating palmitoylcarnitine concentration	4	CL E G H
HP:0010996	HP:0033381	Elevated circulating stearoylcarnitine concentration	4	CL E G H
HP:0010996	HP:0033445	Reduced circulating acylcarnitine concentration	4	CL E G H
HP:0010996	HP:0033502	Abnormal esterified to free carnitine ratio	4	CL E G H
HP:0010996	HP:0045045	Elevated circulating acylcarnitine concentration	4	ABCD4 CL E G H	5826	68	OMIM:614857	Methylmalonic aciduria and homocystinuria, Cblj type		53
HP:0010996	HP:0045045	Elevated circulating acylcarnitine concentration	4	ACAD8 CL E G H	27034	87	ORPHA:79159	Isobutyryl-CoA dehydrogenase deficiency	HP:0040282 - Frequent	58
HP:0010996	HP:0045045	Elevated circulating acylcarnitine concentration	4	ACAD9 CL E G H	28976	21497	ORPHA:99901	Acyl-CoA dehydrogenase 9 deficiency	HP:0040282 - Frequent	98
HP:0010996	HP:0011936	Decreased plasma total carnitine	4	ACADM CL E G H	34	89	ORPHA:42	Medium chain acyl-CoA dehydrogenase deficiency	HP:0040282 - Frequent	197
HP:0010996	HP:0045045	Elevated circulating acylcarnitine concentration	4	ACADS CL E G H	35	90	ORPHA:26792	Short chain acyl-CoA dehydrogenase deficiency	HP:0040282 - Frequent	90
HP:0010996	HP:0011936	Decreased plasma total carnitine	4	COL7A1 CL E G H	1294	2214	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form	HP:0040283 - Occasional	263
HP:0010996	HP:0045045	Elevated circulating acylcarnitine concentration	4	COX16 CL E G H	51241	20213	OMIM:619355	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22; MC4DN22
HP:0010996	HP:0045045	Elevated circulating acylcarnitine concentration	4	CPT2 CL E G H	1376	2330	ORPHA:228302	Carnitine palmitoyl transferase II deficiency, myopathic form	HP:0040282 - Frequent	101
HP:0010996	HP:0045045	Elevated circulating acylcarnitine concentration	4	CPT2 CL E G H	1376	2330	ORPHA:228308	Carnitine palmitoyl transferase II deficiency, neonatal form	HP:0040281 - Very frequent	101
HP:0010996	HP:0011936	Decreased plasma total carnitine	4	CPT2 CL E G H	1376	2330	ORPHA:228308	Carnitine palmitoyl transferase II deficiency, neonatal form	HP:0040281 - Very frequent	101
HP:0010996	HP:0008315	Decreased plasma free carnitine	4	CPT2 CL E G H	1376	2330	ORPHA:228308	Carnitine palmitoyl transferase II deficiency, neonatal form	HP:0040281 - Very frequent	101
HP:0010996	HP:0011936	Decreased plasma total carnitine	4	CPT2 CL E G H	1376	2330	ORPHA:228305	Carnitine palmitoyl transferase II deficiency, severe infantile form	HP:0040282 - Frequent	101
HP:0010996	HP:0008315	Decreased plasma free carnitine	4	CPT2 CL E G H	1376	2330	ORPHA:228305	Carnitine palmitoyl transferase II deficiency, severe infantile form	HP:0040282 - Frequent	101
HP:0010996	HP:0045045	Elevated circulating acylcarnitine concentration	4	CPT2 CL E G H	1376	2330	ORPHA:228305	Carnitine palmitoyl transferase II deficiency, severe infantile form	HP:0040282 - Frequent	101
HP:0010996	HP:0011936	Decreased plasma total carnitine	4	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal	.	101
HP:0010996	HP:0008315	Decreased plasma free carnitine	4	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal	.	101
HP:0010996	HP:0045045	Elevated circulating acylcarnitine concentration	4	ETHE1 CL E G H	23474	23287	OMIM:602473	Encephalopathy, ethylmalonic		42
HP:0010996	HP:0045045	Elevated circulating acylcarnitine concentration	4	HADHA CL E G H	3030	4801	OMIM:609015	Mitochondrial trifunctional protein deficiency		99
HP:0010996	HP:0045045	Elevated circulating acylcarnitine concentration	4	HADHB CL E G H	3032	4803	OMIM:609015	Mitochondrial trifunctional protein deficiency		60
HP:0010996	HP:0045045	Elevated circulating acylcarnitine concentration	4	LMBRD1 CL E G H	55788	23038	ORPHA:79284	Methylmalonic acidemia with homocystinuria type cblF		46
HP:0010996	HP:0045045	Elevated circulating acylcarnitine concentration	4	LMBRD1 CL E G H	55788	23038	OMIM:277380	Methylmalonic aciduria and homocystinuria, Cblf type		46
HP:0010996	HP:0045045	Elevated circulating acylcarnitine concentration	4	MCEE CL E G H	84693	16732	OMIM:251120	Methylmalonyl-Coa epimerase deficiency		19
HP:0010996	HP:0045045	Elevated circulating acylcarnitine concentration	4	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC		101
HP:0010996	HP:0011936	Decreased plasma total carnitine	4	MMP1 CL E G H	4312	7155	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form	HP:0040283 - Occasional	6
HP:0010996	HP:0008315	Decreased plasma free carnitine	4	NADK2 CL E G H	133686	26404	OMIM:616034	2,4-Dienoyl-Coa reductase deficiency	.	14
HP:0010996	HP:0008315	Decreased plasma free carnitine	4	SCO1 CL E G H	6341	10603	OMIM:619048	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 4; MC4DN4		46
HP:0010996	HP:0045045	Elevated circulating acylcarnitine concentration	4	SLC25A20 CL E G H	788	1421	ORPHA:159	Carnitine-acylcarnitine translocase deficiency	HP:0040281 - Very frequent	40
HP:0010996	HP:0045045	Elevated circulating acylcarnitine concentration	4	SLC52A1 CL E G H	55065	30225	OMIM:615026	Riboflavin deficiency	.	3
HP:0010996	HP:0045045	Elevated circulating acylcarnitine concentration	4	TANGO2 CL E G H	128989	25439	OMIM:616878	Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration		12
HP:0010996	HP:0045045	Elevated circulating acylcarnitine concentration	4	TANGO2 CL E G H	128989	25439	ORPHA:480864	Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome	HP:0040283 - Occasional	12
HP:0010996	HP:0033440	Elevated circulating octenoylcarnitine concentration	5	CL E G H
HP:0010996	HP:0033462	Elevated circulating oleylcarnitine concentration	5	CL E G H
HP:0010996	HP:0033439	Elevated circulating decenoylcarnitine concentration	5	CL E G H
HP:0010996	HP:0033461	Elevated circulating 3-hydroxylinoleylcarnitine concentration	5	CL E G H
HP:0010996	HP:0033507	Decreased esterified to free carnitine ratio	5	CL E G H
HP:0010996	HP:0033447	Elevated circulating isovalerylcarnitine concentration	5	CL E G H
HP:0010996	HP:0033506	Increased esterified to free carnitine ratio	5	CL E G H
HP:0010996	HP:0033442	Elevated circulating glutarylcarnitine concentration	5	CL E G H
HP:0010996	HP:0033484	Elevated circulating linoleylcarnitine concentration	5	CL E G H
HP:0010996	HP:0033441	Elevated circulating hexanoylcarnitine concentration	5	CL E G H
HP:0010996	HP:0033464	Elevated circulating 3-hydroxypalmitoleylcarnitine concentration	5	CL E G H
HP:0010996	HP:0033443	Elevated circulating propionylcarnitine concentration	5	ABCD4 CL E G H	5826	68	OMIM:614857	Methylmalonic aciduria and homocystinuria, Cblj type		53
HP:0010996	HP:0033444	Elevated circulating dodecanoylcarnitine concentration	5	COX16 CL E G H	51241	20213	OMIM:619355	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22; MC4DN22
HP:0010996	HP:0033465	Elevated circulating tetradecanoylcarnitine concentration	5	COX16 CL E G H	51241	20213	OMIM:619355	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22; MC4DN22
HP:0010996	HP:0033446	Elevated circulating butyrylcarnitine concentration	5	ETHE1 CL E G H	23474	23287	OMIM:602473	Encephalopathy, ethylmalonic		42
HP:0010996	HP:0031544	Elevated circulating palmitoleylcarnitine concentration	5	LMBRD1 CL E G H	55788	23038	ORPHA:79284	Methylmalonic acidemia with homocystinuria type cblF	HP:0040281 - Very frequent	46
HP:0010996	HP:0033443	Elevated circulating propionylcarnitine concentration	5	LMBRD1 CL E G H	55788	23038	OMIM:277380	Methylmalonic aciduria and homocystinuria, Cblf type		46
HP:0010996	HP:0031544	Elevated circulating palmitoleylcarnitine concentration	5	MCEE CL E G H	84693	16732	OMIM:251120	Methylmalonyl-Coa epimerase deficiency		19
HP:0010996	HP:0031544	Elevated circulating palmitoleylcarnitine concentration	5	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC	HP:0040281 - Very frequent	101