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:
Abnormal circulating fatty-acid concentration (HP:0004359)

Parent Node:
Abnormal circulating long-chain fatty-acid concentration (HP:0010964)

..Starting node
..Very long chain fatty acid accumulation (HP:0008167)

Term ID:

8167

Name:

Very long chain fatty acid accumulation

Synonym:

Definition:

Comments:

Reference:

HP:0008167

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal circulating phytanic acid concentration (HP:0010965)

Decreased 3-hydroxyacyl-CoA dehydrogenase level (HP:0100950)

Elevated circulating long chain fatty acid concentration (HP:0003455)

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:0008167	HP:0008167	Very long chain fatty acid accumulation	0	ABCD1 CL E G H	215	61	ORPHA:139399	Adrenomyeloneuropathy	HP:0040282 - Frequent	135
HP:0008167	HP:0008167	Very long chain fatty acid accumulation	0	ABCD1 CL E G H	215	61	ORPHA:139396	X-linked cerebral adrenoleukodystrophy	HP:0040281 - Very frequent	135
HP:0008167	HP:0008167	Very long chain fatty acid accumulation	0	ACBD5 CL E G H	91452	23338	OMIM:618863	RETINAL DYSTROPHY WITH LEUKODYSTROPHY; RDLKD		1
HP:0008167	HP:0008167	Very long chain fatty acid accumulation	0	ACOX1 CL E G H	51	119	OMIM:264470	Peroxisomal acyl-coa oxidase deficiency		120
HP:0008167	HP:0008167	Very long chain fatty acid accumulation	0	HSD17B4 CL E G H	3295	5213	OMIM:261515	D-bifunctional protein deficiency		98
HP:0008167	HP:0008167	Very long chain fatty acid accumulation	0	PEX1 CL E G H	5189	8850	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent	169
HP:0008167	HP:0008167	Very long chain fatty acid accumulation	0	PEX1 CL E G H	5189	8850	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent	169
HP:0008167	HP:0008167	Very long chain fatty acid accumulation	0	PEX10 CL E G H	5192	8851	ORPHA:247815	Autosomal recessive ataxia due to PEX10 deficiency	HP:0040282 - Frequent	75
HP:0008167	HP:0008167	Very long chain fatty acid accumulation	0	PEX10 CL E G H	5192	8851	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent	75
HP:0008167	HP:0008167	Very long chain fatty acid accumulation	0	PEX10 CL E G H	5192	8851	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent	75
HP:0008167	HP:0008167	Very long chain fatty acid accumulation	0	PEX11B CL E G H	8799	8853	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent	4
HP:0008167	HP:0008167	Very long chain fatty acid accumulation	0	PEX11B CL E G H	8799	8853	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent	4
HP:0008167	HP:0008167	Very long chain fatty acid accumulation	0	PEX12 CL E G H	5193	8854	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent	65
HP:0008167	HP:0008167	Very long chain fatty acid accumulation	0	PEX12 CL E G H	5193	8854	OMIM:266510	Peroxisome biogenesis disorder 3B	.	65
HP:0008167	HP:0008167	Very long chain fatty acid accumulation	0	PEX12 CL E G H	5193	8854	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent	65
HP:0008167	HP:0008167	Very long chain fatty acid accumulation	0	PEX13 CL E G H	5194	8855	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent	66
HP:0008167	HP:0008167	Very long chain fatty acid accumulation	0	PEX13 CL E G H	5194	8855	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent	66
HP:0008167	HP:0008167	Very long chain fatty acid accumulation	0	PEX14 CL E G H	5195	8856	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent	46
HP:0008167	HP:0008167	Very long chain fatty acid accumulation	0	PEX14 CL E G H	5195	8856	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent	46
HP:0008167	HP:0008167	Very long chain fatty acid accumulation	0	PEX16 CL E G H	9409	8857	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent	59
HP:0008167	HP:0008167	Very long chain fatty acid accumulation	0	PEX16 CL E G H	9409	8857	OMIM:614877	Peroxisome biogenesis disorder 8B	.	59
HP:0008167	HP:0008167	Very long chain fatty acid accumulation	0	PEX16 CL E G H	9409	8857	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent	59
HP:0008167	HP:0008167	Very long chain fatty acid accumulation	0	PEX19 CL E G H	5824	9713	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent	62
HP:0008167	HP:0008167	Very long chain fatty acid accumulation	0	PEX19 CL E G H	5824	9713	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent	62
HP:0008167	HP:0008167	Very long chain fatty acid accumulation	0	PEX2 CL E G H	5828	9717	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent	82
HP:0008167	HP:0008167	Very long chain fatty acid accumulation	0	PEX2 CL E G H	5828	9717	OMIM:614867	Peroxisome biogenesis disorder 5B	.	82
HP:0008167	HP:0008167	Very long chain fatty acid accumulation	0	PEX2 CL E G H	5828	9717	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent	82
HP:0008167	HP:0008167	Very long chain fatty acid accumulation	0	PEX26 CL E G H	55670	22965	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent	106
HP:0008167	HP:0008167	Very long chain fatty acid accumulation	0	PEX26 CL E G H	55670	22965	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent	106
HP:0008167	HP:0008167	Very long chain fatty acid accumulation	0	PEX3 CL E G H	8504	8858	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent	47
HP:0008167	HP:0008167	Very long chain fatty acid accumulation	0	PEX3 CL E G H	8504	8858	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent	47
HP:0008167	HP:0008167	Very long chain fatty acid accumulation	0	PEX5 CL E G H	5830	9719	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent	99
HP:0008167	HP:0008167	Very long chain fatty acid accumulation	0	PEX5 CL E G H	5830	9719	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent	99
HP:0008167	HP:0008167	Very long chain fatty acid accumulation	0	PEX6 CL E G H	5190	8859	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent	98
HP:0008167	HP:0008167	Very long chain fatty acid accumulation	0	PEX6 CL E G H	5190	8859	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent	98
HP:0008167	HP:0008167	Very long chain fatty acid accumulation	0	PNPLA2 CL E G H	57104	30802	ORPHA:98908	Neutral lipid storage myopathy	HP:0040282 - Frequent	65

Genes (18) :ABCD1 ACBD5 ACOX1 HSD17B4 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PNPLA2

Diseases (12) :ORPHA:139399 ORPHA:139396 OMIM:618863 OMIM:264470 OMIM:261515 ORPHA:772 ORPHA:912 ORPHA:247815 OMIM:266510 OMIM:614877 OMIM:614867 ORPHA:98908

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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