Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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 bone mineral density (HP:0004348)

Parent Node:
Abnormality of skull ossification (HP:0002703)

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

..Starting node
..Increased skull ossification (HP:0004330)

Term ID:

4330

Name:

Increased skull ossification

Synonym:

Hyperossification of skull; Hyperostosis of skull; Increased calcification of skull; Increased Mineralization of skull; Sclerosis of bones of skull; Sclerosis of skull

Definition:

An increase in the magnitude or amount of ossification of the skull.

Comments:

Reference:

HP:0004330

Genes and Diseases:

Child Nodes:

........

Dense calvaria (HP:0000250)

........

Increased spinal bone density (HP:0004563)

Sister Nodes:

Bone-in-a-bone appearance of carpal bones (HP:0004234)

Clavicular sclerosis (HP:0100923)

Cortical sclerosis (HP:0005652)

Craniofacial osteosclerosis (HP:0005464)

Generalized osteosclerosis (HP:0005789)

Increased bone density with cystic changes (HP:0005700)

Increased density of long bones (HP:0006392)

Ivory epiphyses of the metacarpals (HP:0009191)

Metacarpal diaphyseal endosteal sclerosis (HP:0006174)

Osteopetrosis (HP:0011002)

Osteopoikilosis (HP:0010739)

Patchy osteosclerosis (HP:0005686)

Sclerosis of foot bone (HP:0100925)

Sclerosis of hand bone (HP:0004054)

Sclerosis of skull base (HP:0002694)

Sclerotic scapulae (HP:0001474)

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:0004330	HP:0004330	Increased skull ossification	0	CSF1R CL E G H	1436	2433	OMIM:618476	Brain abnormalities, neurodegeneration, and dysosteosclerosis		149
HP:0004330	HP:0004330	Increased skull ossification	0	HGSNAT CL E G H	138050	26527	OMIM:252930	Mucopolysaccharidosis type IIIC		86
HP:0004330	HP:0004330	Increased skull ossification	0	HHAT CL E G H	55733	18270	ORPHA:1422	Chondrodysplasia-disorder of sex development syndrome	HP:0040281 - Very frequent
HP:0004330	HP:0004330	Increased skull ossification	0	NAGLU CL E G H	4669	7632	OMIM:252920	Mucopolysaccharidosis type IIIB		72
HP:0004330	HP:0004330	Increased skull ossification	0	OSTM1 CL E G H	28962	21652	ORPHA:85179	Infantile osteopetrosis with neuroaxonal dysplasia	HP:0040282 - Frequent	73
HP:0004330	HP:0004330	Increased skull ossification	0	RBL2 CL E G H	5934	9894	OMIM:619690	BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME; BRUWAG
HP:0004330	HP:0004330	Increased skull ossification	0	SGSH CL E G H	6448	10818	OMIM:252900	Mucopolysaccharidosis type IIIA		97
HP:0004330	HP:0004330	Increased skull ossification	0	VCP CL E G H	7415	12666	ORPHA:329475	Spastic paraplegia-Paget disease of bone syndrome		63
HP:0004330	HP:0000250	Dense calvaria	1	HGSNAT CL E G H	138050	26527	OMIM:252930	Mucopolysaccharidosis type IIIC	.	86
HP:0004330	HP:0000250	Dense calvaria	1	NAGLU CL E G H	4669	7632	OMIM:252920	Mucopolysaccharidosis type IIIB	.	72
HP:0004330	HP:0000250	Dense calvaria	1	SGSH CL E G H	6448	10818	OMIM:252900	Mucopolysaccharidosis type IIIA	.	97
HP:0004330	HP:0004563	Increased spinal bone density	1	VCP CL E G H	7415	12666	ORPHA:329475	Spastic paraplegia-Paget disease of bone syndrome	HP:0040281 - Very frequent	63

Genes (8) :CSF1R HGSNAT HHAT NAGLU OSTM1 RBL2 SGSH VCP

Diseases (8) :OMIM:618476 OMIM:252930 ORPHA:1422 OMIM:252920 ORPHA:85179 OMIM:619690 OMIM:252900 ORPHA:329475

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

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