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:0012086	HP:0012086	Abnormal urinary color	0	ABCC2 CL E G H	1244	53	ORPHA:234	Dubin-Johnson syndrome	HP:0040281 - Very frequent	119
HP:0012086	HP:0012086	Abnormal urinary color	0	AKR1D1 CL E G H	6718	388	ORPHA:79303	Congenital bile acid synthesis defect type 2		62
HP:0012086	HP:0012086	Abnormal urinary color	0	ALAD CL E G H	210	395	ORPHA:100924	Porphyria due to ALA dehydratase deficiency		62
HP:0012086	HP:0012086	Abnormal urinary color	0	ATP11C CL E G H	286410	13554	OMIM:301015	Hemolytic anemia, congenital, X-linked		1
HP:0012086	HP:0012086	Abnormal urinary color	0	BLVRA CL E G H	644	1062	OMIM:614156	Hyperbiliverdinemia		2
HP:0012086	HP:0012086	Abnormal urinary color	0	CLTRN CL E G H	57393	29437	ORPHA:2116	Hartnup disease	HP:0040281 - Very frequent
HP:0012086	HP:0012086	Abnormal urinary color	0	COX1 CL E G H	4512	7419	ORPHA:99845	Genetic recurrent myoglobinuria
HP:0012086	HP:0012086	Abnormal urinary color	0	COX3 CL E G H	4514	7422	ORPHA:99845	Genetic recurrent myoglobinuria
HP:0012086	HP:0012086	Abnormal urinary color	0	CPOX CL E G H	1371	2321	OMIM:618892	Harderoporphyria		72
HP:0012086	HP:0012086	Abnormal urinary color	0	CPOX CL E G H	1371	2321	ORPHA:79273	Hereditary coproporphyria		72
HP:0012086	HP:0012086	Abnormal urinary color	0	CPT2 CL E G H	1376	2330	ORPHA:228302	Carnitine palmitoyl transferase II deficiency, myopathic form		101
HP:0012086	HP:0012086	Abnormal urinary color	0	CPT2 CL E G H	1376	2330	ORPHA:228308	Carnitine palmitoyl transferase II deficiency, neonatal form		101
HP:0012086	HP:0012086	Abnormal urinary color	0	CPT2 CL E G H	1376	2330	ORPHA:228305	Carnitine palmitoyl transferase II deficiency, severe infantile form		101
HP:0012086	HP:0012086	Abnormal urinary color	0	DMD CL E G H	1756	2928	ORPHA:98895	Becker muscular dystrophy	HP:0040281 - Very frequent	1496
HP:0012086	HP:0012086	Abnormal urinary color	0	GATA1 CL E G H	2623	4170	ORPHA:79277	Congenital erythropoietic porphyria		29
HP:0012086	HP:0012086	Abnormal urinary color	0	HMBS CL E G H	3145	4982	ORPHA:79276	Acute intermittent porphyria		81
HP:0012086	HP:0012086	Abnormal urinary color	0	IRAK1 CL E G H	3654	6112	ORPHA:93552	Pediatric systemic lupus erythematosus
HP:0012086	HP:0012086	Abnormal urinary color	0	LPIN1 CL E G H	23175	13345	ORPHA:99845	Genetic recurrent myoglobinuria		95
HP:0012086	HP:0012086	Abnormal urinary color	0	PYGM CL E G H	5837	9726	ORPHA:368	Glycogen storage disease due to muscle glycogen phosphorylase deficiency		166
HP:0012086	HP:0012086	Abnormal urinary color	0	PYGM CL E G H	5837	9726	OMIM:232600	Glycogen storage disease V		166
HP:0012086	HP:0012086	Abnormal urinary color	0	SLC6A19 CL E G H	340024	27960	ORPHA:2116	Hartnup disease	HP:0040281 - Very frequent	12
HP:0012086	HP:0012086	Abnormal urinary color	0	SPP1 CL E G H	6696	11255	ORPHA:93552	Pediatric systemic lupus erythematosus
HP:0012086	HP:0012086	Abnormal urinary color	0	STAT4 CL E G H	6775	11365	ORPHA:93552	Pediatric systemic lupus erythematosus		2
HP:0012086	HP:0012086	Abnormal urinary color	0	TSC1 CL E G H	7248	12362	ORPHA:538	Lymphangioleiomyomatosis	HP:0040283 - Occasional	1090
HP:0012086	HP:0012086	Abnormal urinary color	0	TSC2 CL E G H	7249	12363	ORPHA:538	Lymphangioleiomyomatosis	HP:0040283 - Occasional	2738
HP:0012086	HP:0012086	Abnormal urinary color	0	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0012086	HP:0012086	Abnormal urinary color	0	UROD CL E G H	7389	12591	ORPHA:95159	Hepatoerythropoietic porphyria		31
HP:0012086	HP:0012086	Abnormal urinary color	0	UROS CL E G H	7390	12592	ORPHA:79277	Congenital erythropoietic porphyria		41
HP:0012086	HP:0012086	Abnormal urinary color	0	UROS CL E G H	7390	12592	OMIM:263700	Porphyria, congenital erythropoietic		41
HP:0012086	HP:0040317	Blue urine	1	CL E G H
HP:0012086	HP:0032002	Orange urine	1	CL E G H
HP:0012086	HP:0040321	Dark yellow urine	1	CL E G H
HP:0012086	HP:0040319	Dark urine	1	AKR1D1 CL E G H	6718	388	ORPHA:79303	Congenital bile acid synthesis defect type 2		62
HP:0012086	HP:0040322	Purple urine	1	ALAD CL E G H	210	395	ORPHA:100924	Porphyria due to ALA dehydratase deficiency	HP:0040282 - Frequent	62
HP:0012086	HP:0040319	Dark urine	1	ATP11C CL E G H	286410	13554	OMIM:301015	Hemolytic anemia, congenital, X-linked		1
HP:0012086	HP:0032003	Green urine	1	BLVRA CL E G H	644	1062	OMIM:614156	Hyperbiliverdinemia	.	2
HP:0012086	HP:0040319	Dark urine	1	COX1 CL E G H	4512	7419	ORPHA:99845	Genetic recurrent myoglobinuria
HP:0012086	HP:0040319	Dark urine	1	COX3 CL E G H	4514	7422	ORPHA:99845	Genetic recurrent myoglobinuria
HP:0012086	HP:0040318	Red urine	1	CPOX CL E G H	1371	2321	OMIM:618892	Harderoporphyria	.	72
HP:0012086	HP:0040319	Dark urine	1	CPOX CL E G H	1371	2321	ORPHA:79273	Hereditary coproporphyria	HP:0040282 - Frequent	72
HP:0012086	HP:0040320	Red-brown urine	1	CPT2 CL E G H	1376	2330	ORPHA:228302	Carnitine palmitoyl transferase II deficiency, myopathic form	HP:0040281 - Very frequent	101
HP:0012086	HP:0040320	Red-brown urine	1	CPT2 CL E G H	1376	2330	ORPHA:228308	Carnitine palmitoyl transferase II deficiency, neonatal form	HP:0040281 - Very frequent	101
HP:0012086	HP:0040320	Red-brown urine	1	CPT2 CL E G H	1376	2330	ORPHA:228305	Carnitine palmitoyl transferase II deficiency, severe infantile form	HP:0040282 - Frequent	101
HP:0012086	HP:0040320	Red-brown urine	1	GATA1 CL E G H	2623	4170	ORPHA:79277	Congenital erythropoietic porphyria	HP:0040282 - Frequent	29
HP:0012086	HP:0040322	Purple urine	1	GATA1 CL E G H	2623	4170	ORPHA:79277	Congenital erythropoietic porphyria	HP:0040282 - Frequent	29
HP:0012086	HP:0040319	Dark urine	1	HMBS CL E G H	3145	4982	ORPHA:79276	Acute intermittent porphyria	HP:0040283 - Occasional	81
HP:0012086	HP:0040319	Dark urine	1	IRAK1 CL E G H	3654	6112	ORPHA:93552	Pediatric systemic lupus erythematosus	HP:0040283 - Occasional
HP:0012086	HP:0040319	Dark urine	1	LPIN1 CL E G H	23175	13345	ORPHA:99845	Genetic recurrent myoglobinuria		95
HP:0012086	HP:0040319	Dark urine	1	PYGM CL E G H	5837	9726	ORPHA:368	Glycogen storage disease due to muscle glycogen phosphorylase deficiency	HP:0040282 - Frequent	166
HP:0012086	HP:0040319	Dark urine	1	PYGM CL E G H	5837	9726	OMIM:232600	Glycogen storage disease V	.	166
HP:0012086	HP:0040319	Dark urine	1	SPP1 CL E G H	6696	11255	ORPHA:93552	Pediatric systemic lupus erythematosus	HP:0040283 - Occasional
HP:0012086	HP:0040319	Dark urine	1	STAT4 CL E G H	6775	11365	ORPHA:93552	Pediatric systemic lupus erythematosus	HP:0040283 - Occasional	2
HP:0012086	HP:0040319	Dark urine	1	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0012086	HP:0040320	Red-brown urine	1	UROD CL E G H	7389	12591	ORPHA:95159	Hepatoerythropoietic porphyria	HP:0040282 - Frequent	31
HP:0012086	HP:0040322	Purple urine	1	UROD CL E G H	7389	12591	ORPHA:95159	Hepatoerythropoietic porphyria	HP:0040282 - Frequent	31
HP:0012086	HP:0040318	Red urine	1	UROD CL E G H	7389	12591	ORPHA:95159	Hepatoerythropoietic porphyria	HP:0040282 - Frequent	31
HP:0012086	HP:0040320	Red-brown urine	1	UROS CL E G H	7390	12592	ORPHA:79277	Congenital erythropoietic porphyria	HP:0040282 - Frequent	41
HP:0012086	HP:0040322	Purple urine	1	UROS CL E G H	7390	12592	ORPHA:79277	Congenital erythropoietic porphyria	HP:0040282 - Frequent	41
HP:0012086	HP:0032001	Pink urine	1	UROS CL E G H	7390	12592	OMIM:263700	Porphyria, congenital erythropoietic	.	41