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 the skeletal system (HP:0000924)

Parent Node:
Abnormal bone structure (HP:0003330)

Parent Node:
obsolete Abnormality of the periosteum (HP:0040166)

..Starting node
..Abnormal periosteum morphology (HP:0030313)

Term ID:

30313

Name:

Abnormal periosteum morphology

Synonym:

Definition:

An anomalous structure of the periosteum, i.e., of the membrane that covers the outer surface of bones.

Comments:

Reference:

HP:0030313

Genes and Diseases:

Child Nodes:

........

Metacarpal periosteal thickening (HP:0006051)

........

Proximal phalangeal periosteal thickening (HP:0006175)

........

Periosteal thickening of long tubular bones (HP:0006465)

........

Metatarsal periosteal thickening (HP:0008074)

........

Periostosis (HP:0030314)

................... HP:0003878 Periosteal new bone of humerus
................... HP:0003931 Periosteal new bone of humeral diaphysis

........

Subperiosteal bone formation (HP:0031485)

........

Periostitis (HP:0040165)

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:0030313	HP:0030313	Abnormal periosteum morphology	0	COL1A1 CL E G H	1277	2197	ORPHA:1310	Caffey disease		373
HP:0030313	HP:0030313	Abnormal periosteum morphology	0	COL1A1 CL E G H	1277	2197	OMIM:114000	Caffey disease		373
HP:0030313	HP:0030313	Abnormal periosteum morphology	0	FAM20C CL E G H	56975	22140	OMIM:259775	Raine syndrome		35
HP:0030313	HP:0030313	Abnormal periosteum morphology	0	FGFR2 CL E G H	2263	3689	ORPHA:313855	FGFR2-related bent bone dysplasia		175
HP:0030313	HP:0030313	Abnormal periosteum morphology	0	GALNT3 CL E G H	2591	4125	OMIM:211900	Tumoral calcinosis, hyperphosphatemic, familial, 1		46
HP:0030313	HP:0030313	Abnormal periosteum morphology	0	IL1RN CL E G H	3557	6000	OMIM:612852	Interleukin 1 receptor antagonist deficiency		40
HP:0030313	HP:0030313	Abnormal periosteum morphology	0	KL CL E G H	9365	6344	OMIM:617994	TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 3; HFTC3		68
HP:0030313	HP:0030313	Abnormal periosteum morphology	0	SLCO2A1 CL E G H	6578	10955	OMIM:167100	Hypertrophic osteoarthropathy, primary, autosomal dominant		13
HP:0030313	HP:0030313	Abnormal periosteum morphology	0	SLCO2A1 CL E G H	6578	10955	OMIM:614441	Hypertrophic osteoarthropathy, primary, autosomal recessive 2		13
HP:0030313	HP:0006175	Proximal phalangeal periosteal thickening	1	CL E G H
HP:0030313	HP:0008074	Metatarsal periosteal thickening	1	CL E G H
HP:0030313	HP:0031485	Subperiosteal bone formation	1	COL1A1 CL E G H	1277	2197	OMIM:114000	Caffey disease		373
HP:0030313	HP:0006465	Periosteal thickening of long tubular bones	1	COL1A1 CL E G H	1277	2197	ORPHA:1310	Caffey disease	HP:0040282 - Frequent	373
HP:0030313	HP:0006465	Periosteal thickening of long tubular bones	1	COL1A1 CL E G H	1277	2197	OMIM:114000	Caffey disease	.	373
HP:0030313	HP:0031485	Subperiosteal bone formation	1	FAM20C CL E G H	56975	22140	OMIM:259775	Raine syndrome		35
HP:0030313	HP:0031485	Subperiosteal bone formation	1	GALNT3 CL E G H	2591	4125	OMIM:211900	Tumoral calcinosis, hyperphosphatemic, familial, 1	.	46
HP:0030313	HP:0040165	Periostitis	1	IL1RN CL E G H	3557	6000	OMIM:612852	Interleukin 1 receptor antagonist deficiency		40
HP:0030313	HP:0006051	Metacarpal periosteal thickening	1	KL CL E G H	9365	6344	OMIM:617994	TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 3; HFTC3		68
HP:0030313	HP:0006465	Periosteal thickening of long tubular bones	1	SLCO2A1 CL E G H	6578	10955	OMIM:167100	Hypertrophic osteoarthropathy, primary, autosomal dominant		13
HP:0030313	HP:0030314	Periostosis	1	SLCO2A1 CL E G H	6578	10955	OMIM:614441	Hypertrophic osteoarthropathy, primary, autosomal recessive 2	.	13
HP:0030313	HP:0003931	Periosteal new bone of humeral diaphysis	2	CL E G H
HP:0030313	HP:0003878	Periosteal new bone of humerus	2	CL E G H

Genes (7) :COL1A1 FAM20C FGFR2 GALNT3 IL1RN KL SLCO2A1

Diseases (9) :ORPHA:1310 OMIM:114000 OMIM:259775 ORPHA:313855 OMIM:211900 OMIM:612852 OMIM:617994 OMIM:167100 OMIM:614441

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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