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:
obsolete Abnormality of calvarial morphology (HP:0002648)

Parent Node:
Plagiocephaly (HP:0001357)

..Starting node
..Posterior plagiocephaly (HP:0011327)

Term ID:

11327

Name:

Posterior plagiocephaly

Synonym:

Deformational posterior plagiocephaly; Occipital plagiocephaly

Definition:

Asymmetry of the posterior part of the skull.

Comments:

Reference:

HP:0011327

Genes and Diseases:

Child Nodes:

Sister Nodes:

Anterior plagiocephaly (HP:0011326)

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:0011327	HP:0011327	Posterior plagiocephaly	0	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG	HP:0040283 - Occasional	68
HP:0011327	HP:0011327	Posterior plagiocephaly	0	CAMK2A CL E G H	815	1460	OMIM:617798	Mental retardation, autosomal dominant 53		1
HP:0011327	HP:0011327	Posterior plagiocephaly	0	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0011327	HP:0011327	Posterior plagiocephaly	0	GRIA1 CL E G H	2890	4571	OMIM:619927			3

Genes (4) :ALG12 CAMK2A CDC42BPB GRIA1

Diseases (4) :ORPHA:79324 OMIM:617798 OMIM:619841 OMIM:619927

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