Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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:
Abnormality of vitamin metabolism (HP:0100508)

Parent Node:
Abnormality of vitamin D metabolism (HP:0100511)

..Starting node
..Low levels of vitamin D (HP:0100512)

Term ID:

100512

Name:

Low levels of vitamin D

Synonym:

Deficient in vitamin D; Vitamin D deficiency

Definition:

A reduced concentration of Vitamin D.

Comments:

Reference:

HP:0100512

Genes and Diseases:

Child Nodes:

Sister Nodes:

Decreased circulating calcifediol concentration (HP:0012053)

High serum calcifediol (HP:0031414)

High serum calcitriol (HP:0031415)

Low serum calcitriol (HP:0012052)

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:0100512	HP:0100512	Low levels of vitamin D	0	ACOX2 CL E G H	8309	120	OMIM:617308	Bile acid synthesis defect, congenital, 6	.	2
HP:0100512	HP:0100512	Low levels of vitamin D	0	ALDH18A1 CL E G H	5832	9722	ORPHA:90348	Autosomal dominant cutis laxa		89
HP:0100512	HP:0100512	Low levels of vitamin D	0	COL7A1 CL E G H	1294	2214	ORPHA:89842	Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form	HP:0040282 - Frequent	263
HP:0100512	HP:0100512	Low levels of vitamin D	0	COL7A1 CL E G H	1294	2214	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form	HP:0040283 - Occasional	263
HP:0100512	HP:0100512	Low levels of vitamin D	0	CTNS CL E G H	1497	2518	ORPHA:411634	Juvenile nephropathic cystinosis	HP:0040283 - Occasional	178
HP:0100512	HP:0100512	Low levels of vitamin D	0	DNAJC21 CL E G H	134218	27030	ORPHA:811	Shwachman-Diamond syndrome	HP:0040282 - Frequent	5
HP:0100512	HP:0100512	Low levels of vitamin D	0	DZIP1L CL E G H	199221	26551	ORPHA:731	Autosomal recessive polycystic kidney disease	HP:0040282 - Frequent	4
HP:0100512	HP:0100512	Low levels of vitamin D	0	EFL1 CL E G H	79631	25789	ORPHA:811	Shwachman-Diamond syndrome	HP:0040282 - Frequent	1
HP:0100512	HP:0100512	Low levels of vitamin D	0	ELN CL E G H	2006	3327	ORPHA:90348	Autosomal dominant cutis laxa		172
HP:0100512	HP:0100512	Low levels of vitamin D	0	FARSB CL E G H	10056	17800	OMIM:613658	Rajab interstitial lung disease with brain calcifications
HP:0100512	HP:0100512	Low levels of vitamin D	0	FBLN5 CL E G H	10516	3602	ORPHA:90348	Autosomal dominant cutis laxa		63
HP:0100512	HP:0100512	Low levels of vitamin D	0	FGF23 CL E G H	8074	3680	ORPHA:89937	Autosomal dominant hypophosphatemic rickets	HP:0040282 - Frequent	51
HP:0100512	HP:0100512	Low levels of vitamin D	0	FOCAD CL E G H	54914	23377	OMIM:619991			3
HP:0100512	HP:0100512	Low levels of vitamin D	0	GALNT2 CL E G H	2590	4124	OMIM:618885	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T
HP:0100512	HP:0100512	Low levels of vitamin D	0	GALT CL E G H	2592	4135	ORPHA:79239	Classic galactosemia	HP:0040283 - Occasional	351
HP:0100512	HP:0100512	Low levels of vitamin D	0	GATA1 CL E G H	2623	4170	ORPHA:79277	Congenital erythropoietic porphyria	HP:0040283 - Occasional	29
HP:0100512	HP:0100512	Low levels of vitamin D	0	GPR35 CL E G H	2859	4492	ORPHA:171	Primary sclerosing cholangitis	HP:0040283 - Occasional	2
HP:0100512	HP:0100512	Low levels of vitamin D	0	HLA-DQA1 CL E G H	3117	4942	OMIM:212750	Celiac disease, susceptibility to, 1	.
HP:0100512	HP:0100512	Low levels of vitamin D	0	HLA-DQB1 CL E G H	3119	4944	OMIM:212750	Celiac disease, susceptibility to, 1	.
HP:0100512	HP:0100512	Low levels of vitamin D	0	MMP1 CL E G H	4312	7155	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form	HP:0040283 - Occasional	6
HP:0100512	HP:0100512	Low levels of vitamin D	0	MST1 CL E G H	4485	7380	ORPHA:171	Primary sclerosing cholangitis	HP:0040283 - Occasional	1
HP:0100512	HP:0100512	Low levels of vitamin D	0	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia	HP:0040282 - Frequent	81
HP:0100512	HP:0100512	Low levels of vitamin D	0	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe	HP:0040282 - Frequent	88
HP:0100512	HP:0100512	Low levels of vitamin D	0	PKHD1 CL E G H	5314	9016	ORPHA:731	Autosomal recessive polycystic kidney disease	HP:0040282 - Frequent	563
HP:0100512	HP:0100512	Low levels of vitamin D	0	PTH1R CL E G H	5745	9608	OMIM:600002	Eiken syndrome		58
HP:0100512	HP:0100512	Low levels of vitamin D	0	RPL11 CL E G H	6135	10301	OMIM:612562	Diamond-Blackfan anemia 7	.	22
HP:0100512	HP:0100512	Low levels of vitamin D	0	RPS10 CL E G H	6204	10383	OMIM:613308	Diamond-Blackfan anemia 9	.	26
HP:0100512	HP:0100512	Low levels of vitamin D	0	SBDS CL E G H	51119	19440	ORPHA:811	Shwachman-Diamond syndrome	HP:0040282 - Frequent	26
HP:0100512	HP:0100512	Low levels of vitamin D	0	SEMA4D CL E G H	10507	10732	ORPHA:171	Primary sclerosing cholangitis	HP:0040283 - Occasional
HP:0100512	HP:0100512	Low levels of vitamin D	0	SLC10A1 CL E G H	6554	10905	OMIM:619256	HYPERCHOLANEMIA, FAMILIAL, 2; FHCA2
HP:0100512	HP:0100512	Low levels of vitamin D	0	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:0100512	HP:0100512	Low levels of vitamin D	0	SLC51B CL E G H	123264	29956	OMIM:619481	BILE ACID MALABSORPTION, PRIMARY, 2; PBAM2
HP:0100512	HP:0100512	Low levels of vitamin D	0	SRP54 CL E G H	6729	11301	ORPHA:811	Shwachman-Diamond syndrome	HP:0040282 - Frequent
HP:0100512	HP:0100512	Low levels of vitamin D	0	TCF4 CL E G H	6925	11634	ORPHA:171	Primary sclerosing cholangitis	HP:0040283 - Occasional	241
HP:0100512	HP:0100512	Low levels of vitamin D	0	UROS CL E G H	7390	12592	ORPHA:79277	Congenital erythropoietic porphyria	HP:0040283 - Occasional	41

Genes (34) :ACOX2 ALDH18A1 COL7A1 CTNS DNAJC21 DZIP1L EFL1 ELN FARSB FBLN5 FGF23 FOCAD GALNT2 GALT GATA1 GPR35 HLA-DQA1 HLA-DQB1 MMP1 MST1 MTTP OCRL PKHD1 PTH1R RPL11 RPS10 SBDS SEMA4D SLC10A1 SLC37A4 SLC51B SRP54 TCF4 UROS

Diseases (23) :OMIM:617308 ORPHA:90348 ORPHA:89842 ORPHA:79408 ORPHA:411634 ORPHA:811 ORPHA:731 OMIM:613658 ORPHA:89937 OMIM:619991 OMIM:618885 ORPHA:79239 ORPHA:79277 ORPHA:171 OMIM:212750 ORPHA:14 ORPHA:534 OMIM:600002 OMIM:612562 OMIM:613308 OMIM:619256 ORPHA:79259 OMIM:619481

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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