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:
Cephalocele (HP:0011815)

Grandparent Node:
Morphological central nervous system abnormality (HP:0002011)

Parent Node:
Encephalocele (HP:0002084)

..Starting node
..Basal encephalocele (HP:0011817)

Term ID:

11817

Name:

Basal encephalocele

Synonym:

Definition:

Basal encephalocele is an encephalocele that occurs along the cribriform plate or through the sphenoid bone. The mass may appear in the nasal cavity, nasopharynx, epipharynx, sphenoid sinus, posterior orbit, or pterygopalatine fossa. The important distinction from other types is that no external tumor is visible except in those rare instances of herniations so large that they protrude through the mouth or nares.

Comments:

Reference:

HP:0011817

Genes and Diseases:

Child Nodes:

........

Ethmoidal encephalocele (HP:0004478)

Sister Nodes:

Anterior basal encephalocele (HP:0006992)

Anterior encephalocele (HP:0007035)

Cranium bifidum occultum (HP:0004423)

Frontal encephalocele (HP:0007330)

Meningoencephalocele (HP:0006888)

Occipital encephalocele (HP:0002085)

Orbital encephalocele (HP:0007115)

Parietal encephalocele (HP:0011816)

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:0011817	HP:0011817	Basal encephalocele	0	ALX3 CL E G H	257	449	ORPHA:391474	Frontorhiny	HP:0040282 - Frequent	9
HP:0011817	HP:0011817	Basal encephalocele	0	CDON CL E G H	50937	17104	ORPHA:280195	Septopreoptic holoprosencephaly		200
HP:0011817	HP:0011817	Basal encephalocele	0	DISP1 CL E G H	84976	19711	ORPHA:280195	Septopreoptic holoprosencephaly		22
HP:0011817	HP:0011817	Basal encephalocele	0	DLL1 CL E G H	28514	2908	ORPHA:280195	Septopreoptic holoprosencephaly		3
HP:0011817	HP:0011817	Basal encephalocele	0	FGF8 CL E G H	2253	3686	ORPHA:280195	Septopreoptic holoprosencephaly		17
HP:0011817	HP:0011817	Basal encephalocele	0	FOXH1 CL E G H	8928	3814	ORPHA:280195	Septopreoptic holoprosencephaly		48
HP:0011817	HP:0011817	Basal encephalocele	0	GAS1 CL E G H	2619	4165	ORPHA:280195	Septopreoptic holoprosencephaly		2
HP:0011817	HP:0011817	Basal encephalocele	0	GLI2 CL E G H	2736	4318	ORPHA:280195	Septopreoptic holoprosencephaly		173
HP:0011817	HP:0011817	Basal encephalocele	0	NODAL CL E G H	4838	7865	ORPHA:280195	Septopreoptic holoprosencephaly		45
HP:0011817	HP:0011817	Basal encephalocele	0	PTCH1 CL E G H	5727	9585	ORPHA:280195	Septopreoptic holoprosencephaly		665
HP:0011817	HP:0011817	Basal encephalocele	0	SHH CL E G H	6469	10848	ORPHA:280195	Septopreoptic holoprosencephaly		67
HP:0011817	HP:0011817	Basal encephalocele	0	SIX3 CL E G H	6496	10889	ORPHA:280195	Septopreoptic holoprosencephaly		32
HP:0011817	HP:0011817	Basal encephalocele	0	STIL CL E G H	6491	10879	ORPHA:280195	Septopreoptic holoprosencephaly		99
HP:0011817	HP:0011817	Basal encephalocele	0	TDGF1 CL E G H	6997	11701	ORPHA:280195	Septopreoptic holoprosencephaly		1
HP:0011817	HP:0011817	Basal encephalocele	0	TGIF1 CL E G H	7050	11776	ORPHA:280195	Septopreoptic holoprosencephaly		32
HP:0011817	HP:0011817	Basal encephalocele	0	ZIC2 CL E G H	7546	12873	ORPHA:280195	Septopreoptic holoprosencephaly		34
HP:0011817	HP:0004478	Ethmoidal encephalocele	1	CDON CL E G H	50937	17104	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional	200
HP:0011817	HP:0004478	Ethmoidal encephalocele	1	DISP1 CL E G H	84976	19711	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional	22
HP:0011817	HP:0004478	Ethmoidal encephalocele	1	DLL1 CL E G H	28514	2908	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional	3
HP:0011817	HP:0004478	Ethmoidal encephalocele	1	FGF8 CL E G H	2253	3686	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional	17
HP:0011817	HP:0004478	Ethmoidal encephalocele	1	FOXH1 CL E G H	8928	3814	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional	48
HP:0011817	HP:0004478	Ethmoidal encephalocele	1	GAS1 CL E G H	2619	4165	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional	2
HP:0011817	HP:0004478	Ethmoidal encephalocele	1	GLI2 CL E G H	2736	4318	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional	173
HP:0011817	HP:0004478	Ethmoidal encephalocele	1	NODAL CL E G H	4838	7865	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional	45
HP:0011817	HP:0004478	Ethmoidal encephalocele	1	PTCH1 CL E G H	5727	9585	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional	665
HP:0011817	HP:0004478	Ethmoidal encephalocele	1	SHH CL E G H	6469	10848	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional	67
HP:0011817	HP:0004478	Ethmoidal encephalocele	1	SIX3 CL E G H	6496	10889	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional	32
HP:0011817	HP:0004478	Ethmoidal encephalocele	1	STIL CL E G H	6491	10879	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional	99
HP:0011817	HP:0004478	Ethmoidal encephalocele	1	TDGF1 CL E G H	6997	11701	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional	1
HP:0011817	HP:0004478	Ethmoidal encephalocele	1	TGIF1 CL E G H	7050	11776	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional	32
HP:0011817	HP:0004478	Ethmoidal encephalocele	1	ZIC2 CL E G H	7546	12873	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional	34

Genes (16) :ALX3 CDON DISP1 DLL1 FGF8 FOXH1 GAS1 GLI2 NODAL PTCH1 SHH SIX3 STIL TDGF1 TGIF1 ZIC2

Diseases (2) :ORPHA:391474 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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