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:0100511	HP:0100511	Abnormality of vitamin D metabolism	0	ACOX2 CL E G H	8309	120	OMIM:617308	Bile acid synthesis defect, congenital, 6		2
HP:0100511	HP:0100511	Abnormality of vitamin D metabolism	0	ALDH18A1 CL E G H	5832	9722	ORPHA:90348	Autosomal dominant cutis laxa		89
HP:0100511	HP:0100511	Abnormality of vitamin D metabolism	0	CLCN5 CL E G H	1184	2023	OMIM:300009	Dent disease 1		112
HP:0100511	HP:0100511	Abnormality of vitamin D metabolism	0	CLCN5 CL E G H	1184	2023	OMIM:300554	Hypophosphatemic rickets, X-linked recessive		112
HP:0100511	HP:0100511	Abnormality of vitamin D metabolism	0	COL7A1 CL E G H	1294	2214	ORPHA:89842	Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form		263
HP:0100511	HP:0100511	Abnormality of vitamin D metabolism	0	COL7A1 CL E G H	1294	2214	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form		263
HP:0100511	HP:0100511	Abnormality of vitamin D metabolism	0	CTNS CL E G H	1497	2518	ORPHA:411629	Infantile nephropathic cystinosis	HP:0040281 - Very frequent	178
HP:0100511	HP:0100511	Abnormality of vitamin D metabolism	0	CTNS CL E G H	1497	2518	ORPHA:411634	Juvenile nephropathic cystinosis		178
HP:0100511	HP:0100511	Abnormality of vitamin D metabolism	0	CYP27B1 CL E G H	1594	2606	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets		41
HP:0100511	HP:0100511	Abnormality of vitamin D metabolism	0	CYP2R1 CL E G H	120227	20580	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets		5
HP:0100511	HP:0100511	Abnormality of vitamin D metabolism	0	CYP3A4 CL E G H	1576	2637	OMIM:619073	VITAMIN D-DEPENDENT RICKETS, TYPE 3; VDDR3		2
HP:0100511	HP:0100511	Abnormality of vitamin D metabolism	0	DMP1 CL E G H	1758	2932	ORPHA:289176	Autosomal recessive hypophosphatemic rickets	HP:0040281 - Very frequent	48
HP:0100511	HP:0100511	Abnormality of vitamin D metabolism	0	DNAJC21 CL E G H	134218	27030	ORPHA:811	Shwachman-Diamond syndrome		5
HP:0100511	HP:0100511	Abnormality of vitamin D metabolism	0	DZIP1L CL E G H	199221	26551	ORPHA:731	Autosomal recessive polycystic kidney disease		4
HP:0100511	HP:0100511	Abnormality of vitamin D metabolism	0	EFL1 CL E G H	79631	25789	ORPHA:811	Shwachman-Diamond syndrome		1
HP:0100511	HP:0100511	Abnormality of vitamin D metabolism	0	ELN CL E G H	2006	3327	ORPHA:90348	Autosomal dominant cutis laxa		172
HP:0100511	HP:0100511	Abnormality of vitamin D metabolism	0	ENPP1 CL E G H	5167	3356	ORPHA:289176	Autosomal recessive hypophosphatemic rickets	HP:0040281 - Very frequent	151
HP:0100511	HP:0100511	Abnormality of vitamin D metabolism	0	FARSB CL E G H	10056	17800	OMIM:613658	Rajab interstitial lung disease with brain calcifications
HP:0100511	HP:0100511	Abnormality of vitamin D metabolism	0	FBLN5 CL E G H	10516	3602	ORPHA:90348	Autosomal dominant cutis laxa		63
HP:0100511	HP:0100511	Abnormality of vitamin D metabolism	0	FGF23 CL E G H	8074	3680	ORPHA:89937	Autosomal dominant hypophosphatemic rickets		51
HP:0100511	HP:0100511	Abnormality of vitamin D metabolism	0	FOCAD CL E G H	54914	23377	OMIM:619991			3
HP:0100511	HP:0100511	Abnormality of vitamin D metabolism	0	GALNT2 CL E G H	2590	4124	OMIM:618885	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T
HP:0100511	HP:0100511	Abnormality of vitamin D metabolism	0	GALT CL E G H	2592	4135	ORPHA:79239	Classic galactosemia		351
HP:0100511	HP:0100511	Abnormality of vitamin D metabolism	0	GATA1 CL E G H	2623	4170	ORPHA:79277	Congenital erythropoietic porphyria		29
HP:0100511	HP:0100511	Abnormality of vitamin D metabolism	0	GPR35 CL E G H	2859	4492	ORPHA:171	Primary sclerosing cholangitis		2
HP:0100511	HP:0100511	Abnormality of vitamin D metabolism	0	HLA-DQA1 CL E G H	3117	4942	OMIM:212750	Celiac disease, susceptibility to, 1
HP:0100511	HP:0100511	Abnormality of vitamin D metabolism	0	HLA-DQB1 CL E G H	3119	4944	OMIM:212750	Celiac disease, susceptibility to, 1
HP:0100511	HP:0100511	Abnormality of vitamin D metabolism	0	IARS1 CL E G H	3376	5330	ORPHA:541423	Growth delay-intellectual disability-hepatopathy syndrome	HP:0040283 - Occasional
HP:0100511	HP:0100511	Abnormality of vitamin D metabolism	0	KL CL E G H	9365	6344	OMIM:617994	TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 3; HFTC3		68
HP:0100511	HP:0100511	Abnormality of vitamin D metabolism	0	LRP5 CL E G H	4041	6697	ORPHA:2788	Osteoporosis-pseudoglioma syndrome		125
HP:0100511	HP:0100511	Abnormality of vitamin D metabolism	0	MMP1 CL E G H	4312	7155	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form		6
HP:0100511	HP:0100511	Abnormality of vitamin D metabolism	0	MST1 CL E G H	4485	7380	ORPHA:171	Primary sclerosing cholangitis		1
HP:0100511	HP:0100511	Abnormality of vitamin D metabolism	0	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia		81
HP:0100511	HP:0100511	Abnormality of vitamin D metabolism	0	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe		88
HP:0100511	HP:0100511	Abnormality of vitamin D metabolism	0	PKHD1 CL E G H	5314	9016	ORPHA:731	Autosomal recessive polycystic kidney disease		563
HP:0100511	HP:0100511	Abnormality of vitamin D metabolism	0	PTH1R CL E G H	5745	9608	OMIM:600002	Eiken syndrome		58
HP:0100511	HP:0100511	Abnormality of vitamin D metabolism	0	RPL11 CL E G H	6135	10301	OMIM:612562	Diamond-Blackfan anemia 7		22
HP:0100511	HP:0100511	Abnormality of vitamin D metabolism	0	RPS10 CL E G H	6204	10383	OMIM:613308	Diamond-Blackfan anemia 9		26
HP:0100511	HP:0100511	Abnormality of vitamin D metabolism	0	SBDS CL E G H	51119	19440	ORPHA:811	Shwachman-Diamond syndrome		26
HP:0100511	HP:0100511	Abnormality of vitamin D metabolism	0	SEMA4D CL E G H	10507	10732	ORPHA:171	Primary sclerosing cholangitis
HP:0100511	HP:0100511	Abnormality of vitamin D metabolism	0	SLC10A1 CL E G H	6554	10905	OMIM:619256	HYPERCHOLANEMIA, FAMILIAL, 2; FHCA2
HP:0100511	HP:0100511	Abnormality of vitamin D metabolism	0	SLC34A1 CL E G H	6569	11019	ORPHA:157215	Hereditary hypophosphatemic rickets with hypercalciuria		47
HP:0100511	HP:0100511	Abnormality of vitamin D metabolism	0	SLC34A3 CL E G H	142680	20305	ORPHA:157215	Hereditary hypophosphatemic rickets with hypercalciuria		52
HP:0100511	HP:0100511	Abnormality of vitamin D metabolism	0	SLC34A3 CL E G H	142680	20305	OMIM:241530	Hypophosphatemic rickets with hypercalciuria, hereditary		52
HP:0100511	HP:0100511	Abnormality of vitamin D metabolism	0	SLC37A4 CL E G H	2542	4061	ORPHA:79259	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib		110
HP:0100511	HP:0100511	Abnormality of vitamin D metabolism	0	SLC51B CL E G H	123264	29956	OMIM:619481	BILE ACID MALABSORPTION, PRIMARY, 2; PBAM2
HP:0100511	HP:0100511	Abnormality of vitamin D metabolism	0	SRP54 CL E G H	6729	11301	ORPHA:811	Shwachman-Diamond syndrome
HP:0100511	HP:0100511	Abnormality of vitamin D metabolism	0	TCF4 CL E G H	6925	11634	ORPHA:171	Primary sclerosing cholangitis		241
HP:0100511	HP:0100511	Abnormality of vitamin D metabolism	0	UROS CL E G H	7390	12592	ORPHA:79277	Congenital erythropoietic porphyria		41
HP:0100511	HP:0100511	Abnormality of vitamin D metabolism	0	VDR CL E G H	7421	12679	OMIM:277440	Vitamin d-dependent rickets, type 2A		104
HP:0100511	HP:0031414	High serum calcifediol	1	CL E G H
HP:0100511	HP:0100512	Low levels of vitamin D	1	ACOX2 CL E G H	8309	120	OMIM:617308	Bile acid synthesis defect, congenital, 6	.	2
HP:0100511	HP:0100512	Low levels of vitamin D	1	ALDH18A1 CL E G H	5832	9722	ORPHA:90348	Autosomal dominant cutis laxa		89
HP:0100511	HP:0031415	High serum calcitriol	1	CLCN5 CL E G H	1184	2023	OMIM:300009	Dent disease 1	.	112
HP:0100511	HP:0031415	High serum calcitriol	1	CLCN5 CL E G H	1184	2023	OMIM:300554	Hypophosphatemic rickets, X-linked recessive	.	112
HP:0100511	HP:0100512	Low levels of vitamin D	1	COL7A1 CL E G H	1294	2214	ORPHA:89842	Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form	HP:0040282 - Frequent	263
HP:0100511	HP:0100512	Low levels of vitamin D	1	COL7A1 CL E G H	1294	2214	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form	HP:0040283 - Occasional	263
HP:0100511	HP:0100512	Low levels of vitamin D	1	CTNS CL E G H	1497	2518	ORPHA:411634	Juvenile nephropathic cystinosis	HP:0040283 - Occasional	178
HP:0100511	HP:0012052	Low serum calcitriol	1	CYP27B1 CL E G H	1594	2606	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets	HP:0040280 - Obligate	41
HP:0100511	HP:0012052	Low serum calcitriol	1	CYP2R1 CL E G H	120227	20580	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets	HP:0040280 - Obligate	5
HP:0100511	HP:0012053	Decreased circulating calcifediol concentration	1	CYP3A4 CL E G H	1576	2637	OMIM:619073	VITAMIN D-DEPENDENT RICKETS, TYPE 3; VDDR3		2
HP:0100511	HP:0012052	Low serum calcitriol	1	CYP3A4 CL E G H	1576	2637	OMIM:619073	VITAMIN D-DEPENDENT RICKETS, TYPE 3; VDDR3		2
HP:0100511	HP:0012052	Low serum calcitriol	1	DMP1 CL E G H	1758	2932	ORPHA:289176	Autosomal recessive hypophosphatemic rickets	HP:0040281 - Very frequent	48
HP:0100511	HP:0100512	Low levels of vitamin D	1	DNAJC21 CL E G H	134218	27030	ORPHA:811	Shwachman-Diamond syndrome	HP:0040282 - Frequent	5
HP:0100511	HP:0100512	Low levels of vitamin D	1	DZIP1L CL E G H	199221	26551	ORPHA:731	Autosomal recessive polycystic kidney disease	HP:0040282 - Frequent	4
HP:0100511	HP:0100512	Low levels of vitamin D	1	EFL1 CL E G H	79631	25789	ORPHA:811	Shwachman-Diamond syndrome	HP:0040282 - Frequent	1
HP:0100511	HP:0100512	Low levels of vitamin D	1	ELN CL E G H	2006	3327	ORPHA:90348	Autosomal dominant cutis laxa		172
HP:0100511	HP:0012052	Low serum calcitriol	1	ENPP1 CL E G H	5167	3356	ORPHA:289176	Autosomal recessive hypophosphatemic rickets	HP:0040281 - Very frequent	151
HP:0100511	HP:0100512	Low levels of vitamin D	1	FARSB CL E G H	10056	17800	OMIM:613658	Rajab interstitial lung disease with brain calcifications
HP:0100511	HP:0100512	Low levels of vitamin D	1	FBLN5 CL E G H	10516	3602	ORPHA:90348	Autosomal dominant cutis laxa		63
HP:0100511	HP:0100512	Low levels of vitamin D	1	FGF23 CL E G H	8074	3680	ORPHA:89937	Autosomal dominant hypophosphatemic rickets	HP:0040282 - Frequent	51
HP:0100511	HP:0100512	Low levels of vitamin D	1	FOCAD CL E G H	54914	23377	OMIM:619991			3
HP:0100511	HP:0100512	Low levels of vitamin D	1	GALNT2 CL E G H	2590	4124	OMIM:618885	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T
HP:0100511	HP:0100512	Low levels of vitamin D	1	GALT CL E G H	2592	4135	ORPHA:79239	Classic galactosemia	HP:0040283 - Occasional	351
HP:0100511	HP:0100512	Low levels of vitamin D	1	GATA1 CL E G H	2623	4170	ORPHA:79277	Congenital erythropoietic porphyria	HP:0040283 - Occasional	29
HP:0100511	HP:0100512	Low levels of vitamin D	1	GPR35 CL E G H	2859	4492	ORPHA:171	Primary sclerosing cholangitis	HP:0040283 - Occasional	2
HP:0100511	HP:0100512	Low levels of vitamin D	1	HLA-DQA1 CL E G H	3117	4942	OMIM:212750	Celiac disease, susceptibility to, 1	.
HP:0100511	HP:0100512	Low levels of vitamin D	1	HLA-DQB1 CL E G H	3119	4944	OMIM:212750	Celiac disease, susceptibility to, 1	.
HP:0100511	HP:0031415	High serum calcitriol	1	KL CL E G H	9365	6344	OMIM:617994	TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 3; HFTC3		68
HP:0100511	HP:0012052	Low serum calcitriol	1	LRP5 CL E G H	4041	6697	ORPHA:2788	Osteoporosis-pseudoglioma syndrome	HP:0040282 - Frequent	125
HP:0100511	HP:0100512	Low levels of vitamin D	1	MMP1 CL E G H	4312	7155	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form	HP:0040283 - Occasional	6
HP:0100511	HP:0100512	Low levels of vitamin D	1	MST1 CL E G H	4485	7380	ORPHA:171	Primary sclerosing cholangitis	HP:0040283 - Occasional	1
HP:0100511	HP:0100512	Low levels of vitamin D	1	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia	HP:0040282 - Frequent	81
HP:0100511	HP:0100512	Low levels of vitamin D	1	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe	HP:0040282 - Frequent	88
HP:0100511	HP:0100512	Low levels of vitamin D	1	PKHD1 CL E G H	5314	9016	ORPHA:731	Autosomal recessive polycystic kidney disease	HP:0040282 - Frequent	563
HP:0100511	HP:0100512	Low levels of vitamin D	1	PTH1R CL E G H	5745	9608	OMIM:600002	Eiken syndrome		58
HP:0100511	HP:0100512	Low levels of vitamin D	1	RPL11 CL E G H	6135	10301	OMIM:612562	Diamond-Blackfan anemia 7	.	22
HP:0100511	HP:0100512	Low levels of vitamin D	1	RPS10 CL E G H	6204	10383	OMIM:613308	Diamond-Blackfan anemia 9	.	26
HP:0100511	HP:0100512	Low levels of vitamin D	1	SBDS CL E G H	51119	19440	ORPHA:811	Shwachman-Diamond syndrome	HP:0040282 - Frequent	26
HP:0100511	HP:0100512	Low levels of vitamin D	1	SEMA4D CL E G H	10507	10732	ORPHA:171	Primary sclerosing cholangitis	HP:0040283 - Occasional
HP:0100511	HP:0100512	Low levels of vitamin D	1	SLC10A1 CL E G H	6554	10905	OMIM:619256	HYPERCHOLANEMIA, FAMILIAL, 2; FHCA2
HP:0100511	HP:0031415	High serum calcitriol	1	SLC34A1 CL E G H	6569	11019	ORPHA:157215	Hereditary hypophosphatemic rickets with hypercalciuria	HP:0040281 - Very frequent	47
HP:0100511	HP:0031415	High serum calcitriol	1	SLC34A3 CL E G H	142680	20305	ORPHA:157215	Hereditary hypophosphatemic rickets with hypercalciuria	HP:0040281 - Very frequent	52
HP:0100511	HP:0031415	High serum calcitriol	1	SLC34A3 CL E G H	142680	20305	OMIM:241530	Hypophosphatemic rickets with hypercalciuria, hereditary	.	52
HP:0100511	HP:0100512	Low levels of vitamin D	1	SLC37A4 CL E G H	2542	4061	ORPHA:79259	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib	HP:0040282 - Frequent	110
HP:0100511	HP:0100512	Low levels of vitamin D	1	SLC51B CL E G H	123264	29956	OMIM:619481	BILE ACID MALABSORPTION, PRIMARY, 2; PBAM2
HP:0100511	HP:0100512	Low levels of vitamin D	1	SRP54 CL E G H	6729	11301	ORPHA:811	Shwachman-Diamond syndrome	HP:0040282 - Frequent
HP:0100511	HP:0100512	Low levels of vitamin D	1	TCF4 CL E G H	6925	11634	ORPHA:171	Primary sclerosing cholangitis	HP:0040283 - Occasional	241
HP:0100511	HP:0100512	Low levels of vitamin D	1	UROS CL E G H	7390	12592	ORPHA:79277	Congenital erythropoietic porphyria	HP:0040283 - Occasional	41
HP:0100511	HP:0031415	High serum calcitriol	1	VDR CL E G H	7421	12679	OMIM:277440	Vitamin d-dependent rickets, type 2A	.	104