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:
Abnormal appendicular skeleton morphology (HP:0011844)

Grandparent Node:
Abnormality of limb bone (HP:0040068)

Parent Node:
Abnormality of limb bone morphology (HP:0002813)

..Starting node
..Subperiosteal bone resorption (HP:0003106)

Term ID:

3106

Name:

Subperiosteal bone resorption

Synonym:

Subperiosteal erosions

Definition:

Loss of bone mass occurring beneath the periosteum (the periosteum is the connective-tissue membrane that surrounds all bones except at the articular surfaces). This process may create a serrated and lace-like appearance in periosteal cortical bone.

Comments:

Reference:

HP:0003106

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal digit morphology (HP:0011297)

Abnormal limb epiphysis morphology (HP:0006505)

Abnormal metaphysis morphology (HP:0000944)

Abnormal radial ray morphology (HP:0410049)

Absent ray (HP:0030030)

Acromicria (HP:0031878)

Aplasia/hypoplasia involving bones of the extremities (HP:0045060)

Ectrodactyly (HP:0100257)

Limb duplication (HP:0100524)

obsolete Abnormal morphology of bones of the lower limbs (HP:0040066)

obsolete Abnormal morphology of bones of the upper limbs (HP:0040065)

obsolete Anomaly of the limb diaphyses morphology (HP:0006504)

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:0003106	HP:0003106	Subperiosteal bone resorption	0	CYP27B1 CL E G H	1594	2606	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets	HP:0040281 - Very frequent	41
HP:0003106	HP:0003106	Subperiosteal bone resorption	0	CYP27B1 CL E G H	1594	2606	OMIM:264700	Vitamin D hydroxylation-deficient rickets, type 1A	.	41
HP:0003106	HP:0003106	Subperiosteal bone resorption	0	CYP2R1 CL E G H	120227	20580	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets	HP:0040281 - Very frequent	5
HP:0003106	HP:0003106	Subperiosteal bone resorption	0	VDR CL E G H	7421	12679	OMIM:277440	Vitamin d-dependent rickets, type 2A	.	104

Genes (3) :CYP27B1 CYP2R1 VDR

Diseases (3) :ORPHA:289157 OMIM:264700 OMIM:277440

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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