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 metaphysis morphology (HP:0000944)

Parent Node:
Metaphyseal striations (HP:0031367)

..Starting node
..Growth arrest lines (HP:0031164)

Term ID:

31164

Name:

Growth arrest lines

Synonym:

Growth resumption lines; Harris lines

Definition:

Growth arrest lines are alternating transverse rings of sclerosis at the metaphysis of a long bone.

Comments:

Reference:

HP:0031164

Genes and Diseases:

Child Nodes:

Sister Nodes:

Osteopathia striata (HP:0010740)

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:0031164	HP:0031164	Growth arrest lines	0	ADA CL E G H	100	186	OMIM:102700	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	.	75

Genes (1) :ADA

Diseases (1) :OMIM:102700

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