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 clavicle morphology (HP:0000889)

Grandparent Node:
Aplasia/Hypoplasia involving bones of the thorax (HP:0006711)

Parent Node:
Aplasia/Hypoplasia of the clavicles (HP:0006710)

..Starting node
..Midclavicular aplasia (HP:0006638)

Term ID:

6638

Name:

Midclavicular aplasia

Synonym:

Missing middle part of collarbone

Definition:

Developmental defect resulting in congenital absence of the middle portion of the clavicle.

Comments:

Reference:

HP:0006638

Genes and Diseases:

Child Nodes:

Sister Nodes:

Aplastic clavicle (HP:0006660)

Congenital pseudoarthrosis of the clavicle (HP:0006585)

Short clavicles (HP:0000894)

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:0006638	HP:0006638	Midclavicular aplasia	0	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia	.	20

Genes (1) :PORCN

Diseases (1) :OMIM:305600

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