Human Phenotype Ontology

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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 musculoskeletal physiology (HP:0011843)

Parent Node:
Abnormality of pain sensation (HP:0010832)

Parent Node:
Increased susceptibility to fractures (HP:0002659)

..Starting node
..Painless fractures due to injury (HP:0002661)

Term ID:

2661

Name:

Painless fractures due to injury

Synonym:

Painless fractures due to injury

Definition:

An increased tendency to fractures following trauma, with fractures occurring without pain.

Comments:

Reference:

HP:0002661

Genes and Diseases:

Child Nodes:

Sister Nodes:

Bowing of limbs due to multiple fractures (HP:0003023)

Multiple prenatal fractures (HP:0005855)

Pathologic fracture (HP:0002756)

Recurrent fractures (HP:0002757)

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:0002661	HP:0002661	Painless fractures due to injury	0	KIF1A CL E G H	547	888	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II	.	276
HP:0002661	HP:0002661	Painless fractures due to injury	0	MPV17 CL E G H	4358	7224	OMIM:256810	Navajo neurohepatopathy	.	56
HP:0002661	HP:0002661	Painless fractures due to injury	0	NGF CL E G H	4803	7808	ORPHA:64752	Hereditary sensory and autonomic neuropathy type 5	HP:0040282 - Frequent	20
HP:0002661	HP:0002661	Painless fractures due to injury	0	NGF CL E G H	4803	7808	OMIM:608654	Neuropathy, hereditary sensory and autonomic, type V	.	20
HP:0002661	HP:0002661	Painless fractures due to injury	0	NTRK1 CL E G H	4914	8031	ORPHA:642	Hereditary sensory and autonomic neuropathy type 4	HP:0040282 - Frequent	97
HP:0002661	HP:0002661	Painless fractures due to injury	0	NTRK1 CL E G H	4914	8031	ORPHA:64752	Hereditary sensory and autonomic neuropathy type 5	HP:0040282 - Frequent	97
HP:0002661	HP:0002661	Painless fractures due to injury	0	RETREG1 CL E G H	54463	25964	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II	.	54
HP:0002661	HP:0002661	Painless fractures due to injury	0	SCN9A CL E G H	6335	10597	OMIM:243000	Indifference to pain, congenital, autosomal recessive	.	318
HP:0002661	HP:0002661	Painless fractures due to injury	0	SCN9A CL E G H	6335	10597	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II	.	318
HP:0002661	HP:0002661	Painless fractures due to injury	0	WNK1 CL E G H	65125	14540	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II	.	199
HP:0002661	HP:0002661	Painless fractures due to injury	0	ZFHX2 CL E G H	85446	20152	OMIM:147430	Marsili syndrome

Genes (8) :KIF1A MPV17 NGF NTRK1 RETREG1 SCN9A WNK1 ZFHX2

Diseases (7) :OMIM:201300 OMIM:256810 ORPHA:64752 OMIM:608654 ORPHA:642 OMIM:243000 OMIM:147430

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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