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:
Abnormality of the vertebral column (HP:0000925)

Parent Node:
Abnormal vertebral morphology (HP:0003468)

..Starting node
..Schmorl's node (HP:0030041)

Term ID:

30041

Name:

Schmorl's node

Synonym:

Schmorl's nodes

Definition:

A Schmorl's node is the herniation of nucleus pulposus through the cartilaginous and bony end plate into the body of the adjacent vertebra.

Comments:

Reference:

HP:0030041

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal form of the vertebral bodies (HP:0003312)

Abnormal number of vertebrae (HP:0030304)

Abnormality of vertebral epiphysis morphology (HP:0100734)

Abnormally ossified vertebrae (HP:0100569)

Aplasia/Hypoplasia of the vertebrae (HP:0008515)

Dysplasia of second lumbar vertebra (HP:0004589)

Modic type vertebral endplate changes (HP:0030775)

Morbus Scheuermann (HP:0010891)

Multiple small vertebral fractures (HP:0005877)

Osteoporosis of vertebrae (HP:0005625)

Punctate vertebral calcifications (HP:0008420)

Sclerotic vertebral body (HP:0100861)

Vertebral compression fracture (HP:0002953)

Vertebral hyperostosis (HP:0008442)

Vertebral segmentation defect (HP:0003422)

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:0030041	HP:0030041	Schmorl's node	0	COL2A1 CL E G H	1280	2200	OMIM:604864	Osteoarthritis with mild chondrodysplasia	.	284
HP:0030041	HP:0030041	Schmorl's node	0	COL9A1 CL E G H	1297	2217	OMIM:614135	Epiphyseal dysplasia, multiple, 6		110

Genes (2) :COL2A1 COL9A1

Diseases (2) :OMIM:604864 OMIM:614135

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