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)

Parent Node:
Abnormal long bone morphology (HP:0011314)

..Starting node
..Crumpled long bones (HP:0006367)

Term ID:

6367

Name:

Crumpled long bones

Synonym:

Crumpled long bones

Definition:

An crumpled radiographic appearance of the long bones, as if the long bone had been crushed together producing irregularities. This feature is the result of multiple fractures and repeated rounds of ineffective healing, as can be seen for instance in severe forms of osteogenesis imperfecta.

Comments:

Reference:

HP:0006367

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal diaphysis morphology (HP:0000940)

Abnormal epiphysis morphology (HP:0005930)

Abnormal humerus morphology (HP:0031095)

Abnormal metaphysis morphology (HP:0000944)

Abnormal morphology of ulna (HP:0040071)

Broad long bones (HP:0005622)

Fractures of the long bones (HP:0003084)

Increased density of long bones (HP:0006392)

obsolete Abnormal morphology of the radius (HP:0045009)

Overtubulated long bones (HP:0006391)

Periosteal thickening of long tubular bones (HP:0006465)

Phocomelia (HP:0009829)

Protuberances at ends of long bones (HP:0003105)

Pseudoarthrosis (HP:0005864)

Short long bone (HP:0003026)

Slender long bone (HP:0003100)

Thickened cortex of long bones (HP:0000935)

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:0006367	HP:0006367	Crumpled long bones	0	COL1A1 CL E G H	1277	2197	OMIM:166210	Osteogenesis imperfecta, type IIA		373
HP:0006367	HP:0006367	Crumpled long bones	0	COL1A2 CL E G H	1278	2198	OMIM:166210	Osteogenesis imperfecta, type IIA		243
HP:0006367	HP:0006367	Crumpled long bones	0	CRTAP CL E G H	10491	2379	OMIM:610682	Osteogenesis imperfecta, type VII	.	124
HP:0006367	HP:0006367	Crumpled long bones	0	LRP5 CL E G H	4041	6697	ORPHA:2788	Osteoporosis-pseudoglioma syndrome	HP:0040282 - Frequent	125
HP:0006367	HP:0006367	Crumpled long bones	0	P4HB CL E G H	5034	8548	ORPHA:2050	Cole-Carpenter syndrome	HP:0040281 - Very frequent	2
HP:0006367	HP:0006367	Crumpled long bones	0	SEC24D CL E G H	9871	10706	ORPHA:2050	Cole-Carpenter syndrome	HP:0040281 - Very frequent	5

Genes (6) :COL1A1 COL1A2 CRTAP LRP5 P4HB SEC24D

Diseases (4) :OMIM:166210 OMIM:610682 ORPHA:2788 ORPHA:2050

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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