Human Phenotype Ontology

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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:
Encephalocele (HP:0002084)

Parent Node:
Basal encephalocele (HP:0011817)

..Starting node
..Ethmoidal encephalocele (HP:0004478)

Term ID:

4478

Name:

Ethmoidal encephalocele

Synonym:

Definition:

Comments:

Reference:

HP:0004478

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0004478	HP:0004478	Ethmoidal encephalocele	0	CDON CL E G H	50937	17104	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional	200
HP:0004478	HP:0004478	Ethmoidal encephalocele	0	DISP1 CL E G H	84976	19711	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional	22
HP:0004478	HP:0004478	Ethmoidal encephalocele	0	DLL1 CL E G H	28514	2908	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional	3
HP:0004478	HP:0004478	Ethmoidal encephalocele	0	FGF8 CL E G H	2253	3686	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional	17
HP:0004478	HP:0004478	Ethmoidal encephalocele	0	FOXH1 CL E G H	8928	3814	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional	48
HP:0004478	HP:0004478	Ethmoidal encephalocele	0	GAS1 CL E G H	2619	4165	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional	2
HP:0004478	HP:0004478	Ethmoidal encephalocele	0	GLI2 CL E G H	2736	4318	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional	173
HP:0004478	HP:0004478	Ethmoidal encephalocele	0	NODAL CL E G H	4838	7865	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional	45
HP:0004478	HP:0004478	Ethmoidal encephalocele	0	PTCH1 CL E G H	5727	9585	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional	665
HP:0004478	HP:0004478	Ethmoidal encephalocele	0	SHH CL E G H	6469	10848	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional	67
HP:0004478	HP:0004478	Ethmoidal encephalocele	0	SIX3 CL E G H	6496	10889	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional	32
HP:0004478	HP:0004478	Ethmoidal encephalocele	0	STIL CL E G H	6491	10879	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional	99
HP:0004478	HP:0004478	Ethmoidal encephalocele	0	TDGF1 CL E G H	6997	11701	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional	1
HP:0004478	HP:0004478	Ethmoidal encephalocele	0	TGIF1 CL E G H	7050	11776	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional	32
HP:0004478	HP:0004478	Ethmoidal encephalocele	0	ZIC2 CL E G H	7546	12873	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional	34

Genes (15) :CDON DISP1 DLL1 FGF8 FOXH1 GAS1 GLI2 NODAL PTCH1 SHH SIX3 STIL TDGF1 TGIF1 ZIC2

Diseases (1) :ORPHA:280195

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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