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 vertebral morphology (HP:0003468)

Parent Node:
Abnormal form of the vertebral bodies (HP:0003312)

..Starting node
..Anisospondyly (HP:0002879)

Term ID:

2879

Name:

Anisospondyly

Synonym:

Definition:

Abnormally increased variability of the size of the vertebral bodies.

Comments:

Reference:

HP:0002879

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormality of spinal facet joint (HP:0030870)

Abnormality of the vertebral endplates (HP:0005106)

Abnormality of the vertebral spinous processes (HP:0008516)

Anterior concavity of thoracic vertebrae (HP:0004611)

Beaking of vertebral bodies (HP:0004568)

Biconcave vertebral bodies (HP:0004586)

Biconvex vertebral bodies (HP:0004625)

Bifid thoracic vertebrae (HP:0008437)

Cuboid-shaped vertebral bodies (HP:0004634)

Disc-like vertebral bodies (HP:0004591)

Hemivertebrae (HP:0002937)

Hypoplastic vertebral bodies (HP:0008479)

Increased vertebral height (HP:0004570)

Irregularity of vertebral bodies (HP:0004582)

Ovoid vertebral bodies (HP:0003300)

Patchy distortion of vertebrae (HP:0004609)

Pear-shaped vertebrae (HP:0004566)

Platyspondyly (HP:0000926)

Sandwich appearance of vertebral bodies (HP:0004618)

Trapezoidal vertebral body (HP:0005621)

Vertebral arch anomaly (HP:0008438)

Vertebral clefting (HP:0008428)

Vertebral wedging (HP:0008422)

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:0002879	HP:0002879	Anisospondyly	0	COL2A1 CL E G H	1280	2200	ORPHA:85198	Dysspondyloenchondromatosis	HP:0040282 - Frequent	284
HP:0002879	HP:0002879	Anisospondyly	0	FLNA CL E G H	2316	3754	ORPHA:2484	Melnick-Needles syndrome	HP:0040282 - Frequent	493
HP:0002879	HP:0002879	Anisospondyly	0	HSPG2 CL E G H	3339	5273	OMIM:224410	Dyssegmental dysplasia, Silverman-Handmaker type	.	345
HP:0002879	HP:0002879	Anisospondyly	0	HSPG2 CL E G H	3339	5273	ORPHA:1865	Dyssegmental dysplasia, Silverman-Handmaker type	HP:0040282 - Frequent	345
HP:0002879	HP:0002879	Anisospondyly	0	TRPV4 CL E G H	59341	18083	OMIM:156530	Metatropic dysplasia	.	214

Genes (4) :COL2A1 FLNA HSPG2 TRPV4

Diseases (5) :ORPHA:85198 ORPHA:2484 OMIM:224410 ORPHA:1865 OMIM:156530

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.