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
..Straight clavicles (HP:0006587)

Term ID:

6587

Name:

Straight clavicles

Synonym:

Straight collarbone

Definition:

An abnormally straight configuration of the clavicle, a tubular bone which normally is doubly curved .

Comments:

Reference:

HP:0006587

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)

Thin clavicles (HP:0006645)

Undulate clavicles (HP:0010560)

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:0006587	HP:0006587	Straight clavicles	0	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis	.	34
HP:0006587	HP:0006587	Straight clavicles	0	HOXD13 CL E G H	3239	5136	OMIM:113300	Brachydactyly, type E	.	25
HP:0006587	HP:0006587	Straight clavicles	0	PCNT CL E G H	5116	16068	OMIM:210720	Microcephalic osteodysplastic primordial dwarfism, type II	HP:0040283 - Occasional	531

Genes (3) :AMER1 HOXD13 PCNT

Diseases (3) :OMIM:300373 OMIM:113300 OMIM:210720

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