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 facial skeleton morphology (HP:0011821)

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

Parent Node:
Craniofacial osteosclerosis (HP:0005464)

..Starting node
..Osteosclerosis of the base of the skull (HP:0005746)

Term ID:

5746

Name:

Osteosclerosis of the base of the skull

Synonym:

Osteosclerosis of the skull base

Definition:

An increase in bone density affecting the basicranium (base of the skull).

Comments:

Reference:

HP:0005746

Genes and Diseases:

Child Nodes:

Sister Nodes:

Calvarial osteosclerosis (HP:0005450)

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:0005746	HP:0005746	Osteosclerosis of the base of the skull	0	CLCN7 CL E G H	1186	2025	ORPHA:210110	Intermediate osteopetrosis	HP:0040282 - Frequent	102
HP:0005746	HP:0005746	Osteosclerosis of the base of the skull	0	PLEKHM1 CL E G H	9842	29017	ORPHA:210110	Intermediate osteopetrosis	HP:0040282 - Frequent	2
HP:0005746	HP:0005746	Osteosclerosis of the base of the skull	0	SLC39A14 CL E G H	23516	20858	OMIM:144755	Hyperostosis cranialis interna	.	5
HP:0005746	HP:0005746	Osteosclerosis of the base of the skull	0	TCIRG1 CL E G H	10312	11647	ORPHA:210110	Intermediate osteopetrosis	HP:0040282 - Frequent	82

Genes (4) :CLCN7 PLEKHM1 SLC39A14 TCIRG1

Diseases (2) :ORPHA:210110 OMIM:144755

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