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)

Grandparent Node:
Increased bone mineral density (HP:0011001)

Parent Node:
Sclerosis of skull base (HP:0002694)

..Starting node
..Progressive sclerosis of skull base (HP:0005477)

Term ID:

5477

Name:

Progressive sclerosis of skull base

Synonym:

Definition:

Progressively increasing bone density of the skull base without significant changes in bony contour.

Comments:

Reference:

HP:0005477

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:0005477	HP:0005477	Progressive sclerosis of skull base	0	PTDSS1 CL E G H	9791	9587	OMIM:151050	Lenz-Majewski hyperostotic dwarfism	.	6

Genes (1) :PTDSS1

Diseases (1) :OMIM:151050

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