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:
Increased bone mineral density (HP:0011001)

..Starting node
..Osteopoikilosis (HP:0010739)

Term ID:

10739

Name:

Osteopoikilosis

Synonym:

Definition:

Osteopoikilosis is a benign, asymptomatic sclerotic dysplasia of the bones. It affects both male and female and may be seen at any age. Radiographically sclerotic circular or ovoid lesions are usually symmetrically distributed in a periarticular location. Lesions can increase or decrease in size and number in serial radiographs or even disappear and do not have increased bone radiotracer uptake.

Comments:

Reference:

HP:0010739

Genes and Diseases:

Child Nodes:

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)

Increased skull ossification (HP:0004330)

Ivory epiphyses of the metacarpals (HP:0009191)

Metacarpal diaphyseal endosteal sclerosis (HP:0006174)

Osteopetrosis (HP:0011002)

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:0010739	HP:0010739	Osteopoikilosis	0	HMGA2 CL E G H	8091	5009	ORPHA:94063	12q14 microdeletion syndrome	HP:0040282 - Frequent	2
HP:0010739	HP:0010739	Osteopoikilosis	0	LEMD3 CL E G H	23592	28887	ORPHA:94063	12q14 microdeletion syndrome	HP:0040282 - Frequent	68
HP:0010739	HP:0010739	Osteopoikilosis	0	LEMD3 CL E G H	23592	28887	OMIM:166700	Buschke-Ollendorff syndrome	.	68
HP:0010739	HP:0010739	Osteopoikilosis	0	LEMD3 CL E G H	23592	28887	ORPHA:1306	Buschke-Ollendorff syndrome	HP:0040280 - Obligate	68
HP:0010739	HP:0010739	Osteopoikilosis	0	LEMD3 CL E G H	23592	28887	ORPHA:1879	Melorheostosis with osteopoikilosis	HP:0040281 - Very frequent	68

Genes (2) :HMGA2 LEMD3

Diseases (4) :ORPHA:94063 OMIM:166700 ORPHA:1306 ORPHA:1879

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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