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 axial skeleton morphology (HP:0009121)

Parent Node:
Abnormality of the vertebral column (HP:0000925)

..Starting node
..Spondylolysis (HP:0003304)

Term ID:

3304

Name:

Spondylolysis

Synonym:

Definition:

Spondylolysis is an osseous defect of the pars interarticularis, thought to be a developmental or acquired stress fracture secondary to chronic low-grade trauma.

Comments:

Reference:

HP:0003304

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal coccyx morphology (HP:0008519)

Abnormal intervertebral disk morphology (HP:0005108)

Abnormal lumbar spine morphology (HP:0100712)

Abnormal sacrum morphology (HP:0005107)

Abnormal thoracic spine morphology (HP:0100711)

Abnormal vertebral morphology (HP:0003468)

Abnormality of the cervical spine (HP:0003319)

Abnormality of the curvature of the vertebral column (HP:0010674)

Abnormality of the odontoid process (HP:0003310)

Aplasia/Hypoplasia involving the vertebral column (HP:0008518)

Atlantoaxial abnormality (HP:0003413)

Back pain (HP:0003418)

Neuropathic spinal arthropathy (HP:0008443)

Reversed usual vertebral column curves (HP:0008433)

Spinal canal stenosis (HP:0003416)

Spinal dysplasia (HP:0008423)

Spinal instability (HP:0005881)

Spinal rigidity (HP:0003306)

Spondylolisthesis (HP:0003302)

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:0003304	HP:0003304	Spondylolysis	0	AGA CL E G H	175	318	OMIM:208400	ASPARTYLGLUCOSAMINURIA	.	76
HP:0003304	HP:0003304	Spondylolysis	0	CTSK CL E G H	1513	2536	ORPHA:763	Pycnodysostosis		39
HP:0003304	HP:0003304	Spondylolysis	0	CTSK CL E G H	1513	2536	OMIM:265800	PYCNODYSOSTOSIS	.	39
HP:0003304	HP:0003304	Spondylolysis	0	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II	.	493
HP:0003304	HP:0003304	Spondylolysis	0	FLNB CL E G H	2317	3755	OMIM:150250	Larsen syndrome	.	233
HP:0003304	HP:0003304	Spondylolysis	0	LMX1B CL E G H	4010	6654	ORPHA:2614	Nail-patella syndrome	HP:0040283 - Occasional	165
HP:0003304	HP:0003304	Spondylolysis	0	RUNX2 CL E G H	860	10472	OMIM:119600	Cleidocranial dysplasia	.	90

Genes (6) :AGA CTSK FLNA FLNB LMX1B RUNX2

Diseases (7) :OMIM:208400 ORPHA:763 OMIM:265800 OMIM:304120 OMIM:150250 ORPHA:2614 OMIM:119600

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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