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 thorax morphology (HP:0000765)

Parent Node:
Abnormal clavicle morphology (HP:0000889)

..Starting node
..Undulate clavicles (HP:0010560)

Term ID:

10560

Name:

Undulate clavicles

Synonym:

Wavy clavicles; Wavy collarbone

Definition:

An abnormally wavy surface or edge of the clavicles.

Comments:

Reference:

HP:0010560

Genes and Diseases:

Child Nodes:

Sister Nodes:

Aplasia/Hypoplasia of the clavicles (HP:0006710)

Broad clavicles (HP:0000916)

Clavicular sclerosis (HP:0100923)

Lateral clavicle hook (HP:0000895)

Long clavicles (HP:0000890)

Medial widening of clavicles (HP:0006599)

Progressive clavicular acroosteolysis (HP:0000905)

Straight clavicles (HP:0006587)

Thin clavicles (HP:0006645)

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:0010560	HP:0010560	Undulate clavicles	0	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II	.	493

Genes (1) :FLNA

Diseases (1) :OMIM:304120

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