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
..Flat posterior fossa (HP:0040011)

Term ID:

40011

Name:

Flat posterior fossa

Synonym:

Definition:

Comments:

Reference:

HP:0040011

Genes and Diseases:

Child Nodes:

........

Small flat posterior fossa (HP:0005759)

Sister Nodes:

Abnormality of the clivus (HP:0010558)

Basilar impression (HP:0005758)

Basilar invagination (HP:0012366)

Enlarged posterior fossa (HP:0005445)

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
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0040011	HP:0040011	Flat posterior fossa	0	CL E G H
HP:0040011	HP:0005759	Small flat posterior fossa	1	CL E G H

Genes (0) :

Diseases (0) :

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