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
..Multiple small vertebral fractures (HP:0005877)

Term ID:

5877

Name:

Multiple small vertebral fractures

Synonym:

Definition:

Comments:

Reference:

HP:0005877

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)

Osteoporosis of vertebrae (HP:0005625)

Punctate vertebral calcifications (HP:0008420)

Schmorl's node (HP:0030041)

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:0005877	HP:0005877	Multiple small vertebral fractures	0	CCDC134 CL E G H	79879	26185	OMIM:619795	OSTEOGENESIS IMPERFECTA, TYPE XXII; OI22
HP:0005877	HP:0005877	Multiple small vertebral fractures	0	MATN3 CL E G H	4148	6909	ORPHA:93311	Multiple epiphyseal dysplasia type 5	HP:0040283 - Occasional	32
HP:0005877	HP:0005877	Multiple small vertebral fractures	0	RUNX2 CL E G H	860	10472	OMIM:156510	Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly	.	90

Genes (3) :CCDC134 MATN3 RUNX2

Diseases (3) :OMIM:619795 ORPHA:93311 OMIM:156510

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