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:0004338	HP:0004338	Abnormal circulating aromatic amino acid concentration	0	BCS1L CL E G H	617	1020	OMIM:124000	Mitochondrial complex III deficiency, nuclear type 1		72
HP:0004338	HP:0004338	Abnormal circulating aromatic amino acid concentration	0	FAH CL E G H	2184	3579	OMIM:276700	Tyrosinemia, type I		107
HP:0004338	HP:0004338	Abnormal circulating aromatic amino acid concentration	0	FTCD CL E G H	10841	3974	OMIM:229100	Formiminotransferase deficiency		65
HP:0004338	HP:0004338	Abnormal circulating aromatic amino acid concentration	0	GCH1 CL E G H	2643	4193	ORPHA:98808	Autosomal dominant dopa-responsive dystonia		86
HP:0004338	HP:0004338	Abnormal circulating aromatic amino acid concentration	0	GCH1 CL E G H	2643	4193	OMIM:128230	Dystonia, DOPA-responsive, with or without hyperphenylalaninemia		86
HP:0004338	HP:0004338	Abnormal circulating aromatic amino acid concentration	0	GCH1 CL E G H	2643	4193	OMIM:233910	Hyperphenylalaninemia, BH4-deficient, B		86
HP:0004338	HP:0004338	Abnormal circulating aromatic amino acid concentration	0	HPD CL E G H	3242	5147	ORPHA:2118	Hawkinsinuria		23
HP:0004338	HP:0004338	Abnormal circulating aromatic amino acid concentration	0	HPD CL E G H	3242	5147	OMIM:140350	HAWKINSINURIA		23
HP:0004338	HP:0004338	Abnormal circulating aromatic amino acid concentration	0	HPD CL E G H	3242	5147	OMIM:276710	Tyrosinemia, type III		23
HP:0004338	HP:0004338	Abnormal circulating aromatic amino acid concentration	0	IMPDH2 CL E G H	3615	6053	ORPHA:98808	Autosomal dominant dopa-responsive dystonia		1
HP:0004338	HP:0004338	Abnormal circulating aromatic amino acid concentration	0	KYNU CL E G H	8942	6469	ORPHA:79155	Hydroxykynureninuria		5
HP:0004338	HP:0004338	Abnormal circulating aromatic amino acid concentration	0	NR4A2 CL E G H	4929	7981	ORPHA:98808	Autosomal dominant dopa-responsive dystonia		27
HP:0004338	HP:0004338	Abnormal circulating aromatic amino acid concentration	0	PAH CL E G H	5053	8582	ORPHA:79254	Classic phenylketonuria		641
HP:0004338	HP:0004338	Abnormal circulating aromatic amino acid concentration	0	PCBD1 CL E G H	5092	8646	OMIM:264070	Hyperphenylalaninemia, BH4-deficient, D		24
HP:0004338	HP:0004338	Abnormal circulating aromatic amino acid concentration	0	PCBD1 CL E G H	5092	8646	ORPHA:1578	Pterin-4 alpha-carbinolamine dehydratase deficiency		24
HP:0004338	HP:0004338	Abnormal circulating aromatic amino acid concentration	0	PNPO CL E G H	55163	30260	ORPHA:79096	Pyridoxal phosphate-responsive seizures		92
HP:0004338	HP:0004338	Abnormal circulating aromatic amino acid concentration	0	PTS CL E G H	5805	9689	OMIM:261640	Hyperphenylalaninemia, BH4-deficient, A		19
HP:0004338	HP:0004338	Abnormal circulating aromatic amino acid concentration	0	QDPR CL E G H	5860	9752	OMIM:261630	Hyperphenylalaninemia, bh4-deficient, C		43
HP:0004338	HP:0004338	Abnormal circulating aromatic amino acid concentration	0	SLC25A13 CL E G H	10165	10983	ORPHA:247598	Neonatal intrahepatic cholestasis due to citrin deficiency		82
HP:0004338	HP:0004338	Abnormal circulating aromatic amino acid concentration	0	SPR CL E G H	6697	11257	OMIM:612716	Dystonia, dopa-responsive, due to sepiapterin reductase deficiency		28
HP:0004338	HP:0004338	Abnormal circulating aromatic amino acid concentration	0	TAT CL E G H	6898	11573	OMIM:276600	Tyrosine transaminase deficiency		43
HP:0004338	HP:0010917	Abnormal circulating tyrosine concentration	1	BCS1L CL E G H	617	1020	OMIM:124000	Mitochondrial complex III deficiency, nuclear type 1		72
HP:0004338	HP:0010917	Abnormal circulating tyrosine concentration	1	FAH CL E G H	2184	3579	OMIM:276700	Tyrosinemia, type I		107
HP:0004338	HP:0010893	Abnormal circulating phenylalanine concentration	1	FTCD CL E G H	10841	3974	OMIM:229100	Formiminotransferase deficiency		65
HP:0004338	HP:0010893	Abnormal circulating phenylalanine concentration	1	GCH1 CL E G H	2643	4193	ORPHA:98808	Autosomal dominant dopa-responsive dystonia		86
HP:0004338	HP:0010893	Abnormal circulating phenylalanine concentration	1	GCH1 CL E G H	2643	4193	OMIM:128230	Dystonia, DOPA-responsive, with or without hyperphenylalaninemia		86
HP:0004338	HP:0010893	Abnormal circulating phenylalanine concentration	1	GCH1 CL E G H	2643	4193	OMIM:233910	Hyperphenylalaninemia, BH4-deficient, B		86
HP:0004338	HP:0010917	Abnormal circulating tyrosine concentration	1	HPD CL E G H	3242	5147	ORPHA:2118	Hawkinsinuria	HP:0040281 - Very frequent	23
HP:0004338	HP:0010917	Abnormal circulating tyrosine concentration	1	HPD CL E G H	3242	5147	OMIM:140350	HAWKINSINURIA		23
HP:0004338	HP:0010917	Abnormal circulating tyrosine concentration	1	HPD CL E G H	3242	5147	OMIM:276710	Tyrosinemia, type III		23
HP:0004338	HP:0010893	Abnormal circulating phenylalanine concentration	1	IMPDH2 CL E G H	3615	6053	ORPHA:98808	Autosomal dominant dopa-responsive dystonia		1
HP:0004338	HP:0004365	Abnormal circulating tryptophan concentration	1	KYNU CL E G H	8942	6469	ORPHA:79155	Hydroxykynureninuria	HP:0040280 - Obligate	5
HP:0004338	HP:0010893	Abnormal circulating phenylalanine concentration	1	NR4A2 CL E G H	4929	7981	ORPHA:98808	Autosomal dominant dopa-responsive dystonia		27
HP:0004338	HP:0010893	Abnormal circulating phenylalanine concentration	1	PAH CL E G H	5053	8582	ORPHA:79254	Classic phenylketonuria		641
HP:0004338	HP:0010893	Abnormal circulating phenylalanine concentration	1	PCBD1 CL E G H	5092	8646	OMIM:264070	Hyperphenylalaninemia, BH4-deficient, D		24
HP:0004338	HP:0010893	Abnormal circulating phenylalanine concentration	1	PCBD1 CL E G H	5092	8646	ORPHA:1578	Pterin-4 alpha-carbinolamine dehydratase deficiency		24
HP:0004338	HP:0010917	Abnormal circulating tyrosine concentration	1	PNPO CL E G H	55163	30260	ORPHA:79096	Pyridoxal phosphate-responsive seizures	HP:0040283 - Occasional	92
HP:0004338	HP:0010893	Abnormal circulating phenylalanine concentration	1	PTS CL E G H	5805	9689	OMIM:261640	Hyperphenylalaninemia, BH4-deficient, A		19
HP:0004338	HP:0010893	Abnormal circulating phenylalanine concentration	1	QDPR CL E G H	5860	9752	OMIM:261630	Hyperphenylalaninemia, bh4-deficient, C		43
HP:0004338	HP:0010917	Abnormal circulating tyrosine concentration	1	SLC25A13 CL E G H	10165	10983	ORPHA:247598	Neonatal intrahepatic cholestasis due to citrin deficiency		82
HP:0004338	HP:0010893	Abnormal circulating phenylalanine concentration	1	SPR CL E G H	6697	11257	OMIM:612716	Dystonia, dopa-responsive, due to sepiapterin reductase deficiency		28
HP:0004338	HP:0010917	Abnormal circulating tyrosine concentration	1	TAT CL E G H	6898	11573	OMIM:276600	Tyrosine transaminase deficiency		43
HP:0004338	HP:0500141	Hypophenylalaninemia	2	CL E G H
HP:0004338	HP:0500135	Hypotryptophanemia	2	CL E G H
HP:0004338	HP:0500134	Hypertryptophanemia	2	CL E G H
HP:0004338	HP:0500133	Hypotyrosinemia	2	CL E G H
HP:0004338	HP:0100610	Maternal hyperphenylalaninemia	2	CL E G H
HP:0004338	HP:0004922	Atypical hyperphenylalaninemia	2	CL E G H
HP:0004338	HP:0003231	Hypertyrosinemia	2	BCS1L CL E G H	617	1020	OMIM:124000	Mitochondrial complex III deficiency, nuclear type 1		72
HP:0004338	HP:0003231	Hypertyrosinemia	2	FAH CL E G H	2184	3579	OMIM:276700	Tyrosinemia, type I	.	107
HP:0004338	HP:0003612	Positive ferric chloride test	2	FTCD CL E G H	10841	3974	OMIM:229100	Formiminotransferase deficiency	.	65
HP:0004338	HP:0008297	Transient hyperphenylalaninemia	2	GCH1 CL E G H	2643	4193	ORPHA:98808	Autosomal dominant dopa-responsive dystonia	HP:0040282 - Frequent	86
HP:0004338	HP:0008297	Transient hyperphenylalaninemia	2	GCH1 CL E G H	2643	4193	OMIM:128230	Dystonia, DOPA-responsive, with or without hyperphenylalaninemia	.	86
HP:0004338	HP:0004923	Hyperphenylalaninemia	2	GCH1 CL E G H	2643	4193	OMIM:233910	Hyperphenylalaninemia, BH4-deficient, B	.	86
HP:0004338	HP:0003231	Hypertyrosinemia	2	HPD CL E G H	3242	5147	OMIM:140350	HAWKINSINURIA	.	23
HP:0004338	HP:0003231	Hypertyrosinemia	2	HPD CL E G H	3242	5147	OMIM:276710	Tyrosinemia, type III	.	23
HP:0004338	HP:0008297	Transient hyperphenylalaninemia	2	IMPDH2 CL E G H	3615	6053	ORPHA:98808	Autosomal dominant dopa-responsive dystonia	HP:0040282 - Frequent	1
HP:0004338	HP:0008297	Transient hyperphenylalaninemia	2	NR4A2 CL E G H	4929	7981	ORPHA:98808	Autosomal dominant dopa-responsive dystonia	HP:0040282 - Frequent	27
HP:0004338	HP:0004923	Hyperphenylalaninemia	2	PAH CL E G H	5053	8582	ORPHA:79254	Classic phenylketonuria	HP:0040281 - Very frequent	641
HP:0004338	HP:0008297	Transient hyperphenylalaninemia	2	PCBD1 CL E G H	5092	8646	OMIM:264070	Hyperphenylalaninemia, BH4-deficient, D		24
HP:0004338	HP:0004923	Hyperphenylalaninemia	2	PCBD1 CL E G H	5092	8646	OMIM:264070	Hyperphenylalaninemia, BH4-deficient, D		24
HP:0004338	HP:0004923	Hyperphenylalaninemia	2	PCBD1 CL E G H	5092	8646	ORPHA:1578	Pterin-4 alpha-carbinolamine dehydratase deficiency	HP:0040281 - Very frequent	24
HP:0004338	HP:0004923	Hyperphenylalaninemia	2	PTS CL E G H	5805	9689	OMIM:261640	Hyperphenylalaninemia, BH4-deficient, A	.	19
HP:0004338	HP:0004923	Hyperphenylalaninemia	2	QDPR CL E G H	5860	9752	OMIM:261630	Hyperphenylalaninemia, bh4-deficient, C	.	43
HP:0004338	HP:0003231	Hypertyrosinemia	2	SLC25A13 CL E G H	10165	10983	ORPHA:247598	Neonatal intrahepatic cholestasis due to citrin deficiency	HP:0040282 - Frequent	82
HP:0004338	HP:0008297	Transient hyperphenylalaninemia	2	SPR CL E G H	6697	11257	OMIM:612716	Dystonia, dopa-responsive, due to sepiapterin reductase deficiency	.	28
HP:0004338	HP:0003231	Hypertyrosinemia	2	TAT CL E G H	6898	11573	OMIM:276600	Tyrosine transaminase deficiency	.	43