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:
Abnormality of the skull base (HP:0002693)

Parent Node:
Abnormal posterior cranial fossa morphology (HP:0000932)

..Starting node
..Basilar impression (HP:0005758)

Term ID:

5758

Name:

Basilar impression

Synonym:

Definition:

Abnormal elevation of the floor of the posterior fossa including occipital condyles and foramen magnum.

Comments:

Reference:

HP:0005758

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormality of the clivus (HP:0010558)

Basilar invagination (HP:0012366)

Enlarged posterior fossa (HP:0005445)

Flat posterior fossa (HP:0040011)

Posterior fossa cyst (HP:0007291)

Small posterior fossa (HP:0040010)

Thinning and bulging of the posterior fossa bones (HP:0000931)

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:0005758	HP:0005758	Basilar impression	0	COL1A1 CL E G H	1277	2197	OMIM:259420	Osteogenesis imperfecta, type III	.	373
HP:0005758	HP:0005758	Basilar impression	0	COL1A2 CL E G H	1278	2198	OMIM:259420	Osteogenesis imperfecta, type III	.	243
HP:0005758	HP:0005758	Basilar impression	0	DKK1 CL E G H	22943	2891	ORPHA:268882	Arnold-Chiari malformation type I	HP:0040283 - Occasional
HP:0005758	HP:0005758	Basilar impression	0	NOTCH2 CL E G H	4853	7882	OMIM:102500	Hajdu-Cheney syndrome	.	138
HP:0005758	HP:0005758	Basilar impression	0	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome	.	17

Genes (5) :COL1A1 COL1A2 DKK1 NOTCH2 ZBTB20

Diseases (4) :OMIM:259420 ORPHA:268882 OMIM:102500 OMIM:259050

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