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:
Abnormal cerebral ventricle morphology (HP:0002118)

Parent Node:
Ventriculomegaly (HP:0002119)

..Starting node
..Enlarged fossa interpeduncularis (HP:0100951)

Term ID:

100951

Name:

Enlarged fossa interpeduncularis

Synonym:

Enlarged basal cistern; Enlarged interpeduncular cistern

Definition:

Comments:

Reference:

HP:0100951

Genes and Diseases:

Child Nodes:

Sister Nodes:

Dilated fourth ventricle (HP:0002198)

Dilated third ventricle (HP:0007082)

Enlarged cisterna magna (HP:0002280)

Enlarged interhemispheric fissure (HP:0100953)

Enlarged sylvian cistern (HP:0100952)

Lateral ventricle dilatation (HP:0006956)

Mild fetal ventriculomegaly (HP:0010952)

Progressive ventriculomegaly (HP:0007100)

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:0100951	HP:0100951	Enlarged fossa interpeduncularis	0	AHI1 CL E G H	54806	21575	OMIM:608629	Joubert syndrome 3	.	175
HP:0100951	HP:0100951	Enlarged fossa interpeduncularis	0	INPP5E CL E G H	56623	21474	OMIM:213300	Joubert syndrome 1	.	111
HP:0100951	HP:0100951	Enlarged fossa interpeduncularis	0	TMEM216 CL E G H	51259	25018	OMIM:608091	Joubert syndrome 2	.	45
HP:0100951	HP:0100951	Enlarged fossa interpeduncularis	0	TMEM67 CL E G H	91147	28396	OMIM:610688	Joubert syndrome 6	.	166

Genes (4) :AHI1 INPP5E TMEM216 TMEM67

Diseases (4) :OMIM:608629 OMIM:213300 OMIM:608091 OMIM:610688

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.