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 metabolism/homeostasis (HP:0001939)

Parent Node:
Abnormality of vitamin metabolism (HP:0100508)

..Starting node
..Abnormality of vitamin E metabolism (HP:0100514)

Term ID:

100514

Name:

Abnormality of vitamin E metabolism

Synonym:

Abnormality of vitamin E metabolism

Definition:

Comments:

Reference:

HP:0100514

Genes and Diseases:

Child Nodes:

........

Vitamin E deficiency (HP:0100513)

Sister Nodes:

Abnormal circulating serine family amino acid concentration (HP:0010894)

Abnormality of vitamin A metabolism (HP:0008372)

Abnormality of vitamin B metabolism (HP:0004340)

Abnormality of vitamin C metabolism (HP:0100509)

Abnormality of vitamin D metabolism (HP:0100511)

Abnormality of vitamin K metabolism (HP:0100831)

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:0100514	HP:0100514	Abnormality of vitamin E metabolism	0	AKR1D1 CL E G H	6718	388	ORPHA:79303	Congenital bile acid synthesis defect type 2		62
HP:0100514	HP:0100514	Abnormality of vitamin E metabolism	0	APOB CL E G H	338	603	OMIM:615558	Hypobetalipoproteinemia, familial, 1		356
HP:0100514	HP:0100514	Abnormality of vitamin E metabolism	0	CYP7A1 CL E G H	1581	2651	ORPHA:209902	Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency	HP:0040282 - Frequent	11
HP:0100514	HP:0100514	Abnormality of vitamin E metabolism	0	DNAJC21 CL E G H	134218	27030	ORPHA:811	Shwachman-Diamond syndrome		5
HP:0100514	HP:0100514	Abnormality of vitamin E metabolism	0	DZIP1L CL E G H	199221	26551	ORPHA:731	Autosomal recessive polycystic kidney disease		4
HP:0100514	HP:0100514	Abnormality of vitamin E metabolism	0	EFL1 CL E G H	79631	25789	ORPHA:811	Shwachman-Diamond syndrome		1
HP:0100514	HP:0100514	Abnormality of vitamin E metabolism	0	FOCAD CL E G H	54914	23377	OMIM:619991			3
HP:0100514	HP:0100514	Abnormality of vitamin E metabolism	0	GPR35 CL E G H	2859	4492	ORPHA:171	Primary sclerosing cholangitis		2
HP:0100514	HP:0100514	Abnormality of vitamin E metabolism	0	MST1 CL E G H	4485	7380	ORPHA:171	Primary sclerosing cholangitis		1
HP:0100514	HP:0100514	Abnormality of vitamin E metabolism	0	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia		81
HP:0100514	HP:0100514	Abnormality of vitamin E metabolism	0	PKHD1 CL E G H	5314	9016	ORPHA:731	Autosomal recessive polycystic kidney disease		563
HP:0100514	HP:0100514	Abnormality of vitamin E metabolism	0	SBDS CL E G H	51119	19440	ORPHA:811	Shwachman-Diamond syndrome		26
HP:0100514	HP:0100514	Abnormality of vitamin E metabolism	0	SEMA4D CL E G H	10507	10732	ORPHA:171	Primary sclerosing cholangitis
HP:0100514	HP:0100514	Abnormality of vitamin E metabolism	0	SLC30A10 CL E G H	55532	25355	ORPHA:309854	Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome		42
HP:0100514	HP:0100514	Abnormality of vitamin E metabolism	0	SLC51B CL E G H	123264	29956	OMIM:619481	BILE ACID MALABSORPTION, PRIMARY, 2; PBAM2
HP:0100514	HP:0100514	Abnormality of vitamin E metabolism	0	SRP54 CL E G H	6729	11301	ORPHA:811	Shwachman-Diamond syndrome
HP:0100514	HP:0100514	Abnormality of vitamin E metabolism	0	TCF4 CL E G H	6925	11634	ORPHA:171	Primary sclerosing cholangitis		241
HP:0100514	HP:0100514	Abnormality of vitamin E metabolism	0	TTPA CL E G H	7274	12404	OMIM:277460	VITAMIN E, FAMILIAL ISOLATED DEFICIENCY OF		62
HP:0100514	HP:0100513	Low levels of vitamin E	1	AKR1D1 CL E G H	6718	388	ORPHA:79303	Congenital bile acid synthesis defect type 2		62
HP:0100514	HP:0100513	Low levels of vitamin E	1	APOB CL E G H	338	603	OMIM:615558	Hypobetalipoproteinemia, familial, 1		356
HP:0100514	HP:0100513	Low levels of vitamin E	1	DNAJC21 CL E G H	134218	27030	ORPHA:811	Shwachman-Diamond syndrome	HP:0040282 - Frequent	5
HP:0100514	HP:0100513	Low levels of vitamin E	1	DZIP1L CL E G H	199221	26551	ORPHA:731	Autosomal recessive polycystic kidney disease	HP:0040282 - Frequent	4
HP:0100514	HP:0100513	Low levels of vitamin E	1	EFL1 CL E G H	79631	25789	ORPHA:811	Shwachman-Diamond syndrome	HP:0040282 - Frequent	1
HP:0100514	HP:0100513	Low levels of vitamin E	1	FOCAD CL E G H	54914	23377	OMIM:619991			3
HP:0100514	HP:0100513	Low levels of vitamin E	1	GPR35 CL E G H	2859	4492	ORPHA:171	Primary sclerosing cholangitis	HP:0040283 - Occasional	2
HP:0100514	HP:0100513	Low levels of vitamin E	1	MST1 CL E G H	4485	7380	ORPHA:171	Primary sclerosing cholangitis	HP:0040283 - Occasional	1
HP:0100514	HP:0100513	Low levels of vitamin E	1	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia	HP:0040281 - Very frequent	81
HP:0100514	HP:0100513	Low levels of vitamin E	1	PKHD1 CL E G H	5314	9016	ORPHA:731	Autosomal recessive polycystic kidney disease	HP:0040282 - Frequent	563
HP:0100514	HP:0100513	Low levels of vitamin E	1	SBDS CL E G H	51119	19440	ORPHA:811	Shwachman-Diamond syndrome	HP:0040282 - Frequent	26
HP:0100514	HP:0100513	Low levels of vitamin E	1	SEMA4D CL E G H	10507	10732	ORPHA:171	Primary sclerosing cholangitis	HP:0040283 - Occasional
HP:0100514	HP:0100513	Low levels of vitamin E	1	SLC30A10 CL E G H	55532	25355	ORPHA:309854	Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome	HP:0040283 - Occasional	42
HP:0100514	HP:0100513	Low levels of vitamin E	1	SLC51B CL E G H	123264	29956	OMIM:619481	BILE ACID MALABSORPTION, PRIMARY, 2; PBAM2
HP:0100514	HP:0100513	Low levels of vitamin E	1	SRP54 CL E G H	6729	11301	ORPHA:811	Shwachman-Diamond syndrome	HP:0040282 - Frequent
HP:0100514	HP:0100513	Low levels of vitamin E	1	TCF4 CL E G H	6925	11634	ORPHA:171	Primary sclerosing cholangitis	HP:0040283 - Occasional	241
HP:0100514	HP:0100513	Low levels of vitamin E	1	TTPA CL E G H	7274	12404	OMIM:277460	VITAMIN E, FAMILIAL ISOLATED DEFICIENCY OF	.	62

Genes (18) :AKR1D1 APOB CYP7A1 DNAJC21 DZIP1L EFL1 FOCAD GPR35 MST1 MTTP PKHD1 SBDS SEMA4D SLC30A10 SLC51B SRP54 TCF4 TTPA

Diseases (11) :ORPHA:79303 OMIM:615558 ORPHA:209902 ORPHA:811 ORPHA:731 OMIM:619991 ORPHA:171 ORPHA:14 ORPHA:309854 OMIM:619481 OMIM:277460

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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