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
..Spondylolisthesis (HP:0003302)

Term ID:

3302

Name:

Spondylolisthesis

Synonym:

Displacement of one backbone compared to another; Slipped backbone; Spondylolithesis

Definition:

Complete bilateral fractures of the pars interarticularis resulting in the anterior slippage of the vertebra.

Comments:

Reference:

HP:0003302

Genes and Diseases:

Child Nodes:

........

Spondylolisthesis at L5-S1 (HP:0008489)

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)

Spondylolysis (HP:0003304)

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:0003302	HP:0003302	Spondylolisthesis	0	AGA CL E G H	175	318	OMIM:208400	ASPARTYLGLUCOSAMINURIA	.	76
HP:0003302	HP:0003302	Spondylolisthesis	0	BMP2 CL E G H	650	1069	OMIM:617877	Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies	.	13
HP:0003302	HP:0003302	Spondylolisthesis	0	COL2A1 CL E G H	1280	2200	OMIM:108300	Stickler syndrome, type I		284
HP:0003302	HP:0003302	Spondylolisthesis	0	CTSK CL E G H	1513	2536	OMIM:265800	PYCNODYSOSTOSIS	.	39
HP:0003302	HP:0003302	Spondylolisthesis	0	CTSK CL E G H	1513	2536	ORPHA:763	Pycnodysostosis		39
HP:0003302	HP:0003302	Spondylolisthesis	0	FBN1 CL E G H	2200	3603	OMIM:154700	Marfan syndrome	.	1361
HP:0003302	HP:0003302	Spondylolisthesis	0	IDUA CL E G H	3425	5391	OMIM:607016	Scheie syndrome	.	115
HP:0003302	HP:0003302	Spondylolisthesis	0	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome	HP:0040283 - Occasional	283
HP:0003302	HP:0003302	Spondylolisthesis	0	KANSL1 CL E G H	284058	24565	OMIM:610443	Koolen-De Vries syndrome		283
HP:0003302	HP:0003302	Spondylolisthesis	0	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation	HP:0040283 - Occasional	283
HP:0003302	HP:0003302	Spondylolisthesis	0	LMX1B CL E G H	4010	6654	ORPHA:2614	Nail-patella syndrome	HP:0040283 - Occasional	165
HP:0003302	HP:0003302	Spondylolisthesis	0	MAN2B1 CL E G H	4125	6826	OMIM:248500	Alpha-mannosidosis	.	136
HP:0003302	HP:0003302	Spondylolisthesis	0	MYH3 CL E G H	4621	7573	OMIM:178110	Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A	HP:0040283 - Occasional	166
HP:0003302	HP:0003302	Spondylolisthesis	0	PABPN1 CL E G H	8106	8565	ORPHA:270	Oculopharyngeal muscular dystrophy	HP:0040281 - Very frequent	10
HP:0003302	HP:0003302	Spondylolisthesis	0	RUNX2 CL E G H	860	10472	OMIM:119600	Cleidocranial dysplasia	.	90
HP:0003302	HP:0003302	Spondylolisthesis	0	SMAD3 CL E G H	4088	6769	ORPHA:284984	Aneurysm-osteoarthritis syndrome	HP:0040283 - Occasional	260
HP:0003302	HP:0003302	Spondylolisthesis	0	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3		260
HP:0003302	HP:0003302	Spondylolisthesis	0	TGFB2 CL E G H	7042	11768	OMIM:614816	LOEYS-DIETZ SYNDROME 4; LDS4		162
HP:0003302	HP:0003302	Spondylolisthesis	0	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5		85
HP:0003302	HP:0003302	Spondylolisthesis	0	TGFBR2 CL E G H	7048	11773	OMIM:610168	Loeys-Dietz syndrome 2		253
HP:0003302	HP:0003302	Spondylolisthesis	0	ZNF469 CL E G H	84627	23216	OMIM:229200	Brittle cornea syndrome	.	397
HP:0003302	HP:0008489	Spondylolisthesis at L5-S1	1	CL E G H

Genes (17) :AGA BMP2 COL2A1 CTSK FBN1 IDUA KANSL1 LMX1B MAN2B1 MYH3 PABPN1 RUNX2 SMAD3 TGFB2 TGFB3 TGFBR2 ZNF469

Diseases (21) :OMIM:208400 OMIM:617877 OMIM:108300 OMIM:265800 ORPHA:763 OMIM:154700 OMIM:607016 ORPHA:363958 OMIM:610443 ORPHA:363965 ORPHA:2614 OMIM:248500 OMIM:178110 ORPHA:270 OMIM:119600 ORPHA:284984 OMIM:613795 OMIM:614816 OMIM:615582 OMIM:610168 OMIM:229200

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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