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 calvaria morphology (HP:0002683)

Parent Node:
obsolete Abnormality of calvarial morphology (HP:0002648)

..Starting node
..Skull asymmetry (HP:0002678)

Term ID:

2678

Name:

Skull asymmetry

Synonym:

Abnormality of skull shape; Asymmetry of skull; Malformation of skull shape; Skull asymmetry; Unequal skull shape; Uneven skull shape

Definition:

Comments:

Reference:

HP:0002678

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal parietal bone morphology (HP:0002696)

Abnormal shape of the frontal region (HP:0011218)

Abnormal shape of the occiput (HP:0011217)

Acrania (HP:0030716)

Biparietal narrowing (HP:0004422)

Brachycephaly (HP:0000248)

Broad skull (HP:0002682)

Calvarial skull defect (HP:0001362)

Cloverleaf skull (HP:0002676)

Cranial asymmetry (HP:0000267)

Craniosynostosis (HP:0001363)

Dolichocephaly (HP:0000268)

Obliteration of the calvarial diploe (HP:0030312)

Plagiocephaly (HP:0001357)

Platybasia (HP:0002691)

Trigonocephaly (HP:0000243)

Turricephaly (HP:0000262)

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:0002678	HP:0002678	Skull asymmetry	0	FGFR2 CL E G H	2263	3689	OMIM:101400	Saethre-Chotzen syndrome	.	175
HP:0002678	HP:0002678	Skull asymmetry	0	FTO CL E G H	79068	24678	OMIM:612938	Growth retardation, developmental delay, coarse facies, and earlydeath	.	70
HP:0002678	HP:0002678	Skull asymmetry	0	MASP1 CL E G H	5648	6901	OMIM:257920	3mc syndrome 1	.	21
HP:0002678	HP:0002678	Skull asymmetry	0	RAD21 CL E G H	5885	9811	OMIM:614701	Cornelia de Lange syndrome 4		25
HP:0002678	HP:0002678	Skull asymmetry	0	RSPRY1 CL E G H	89970	29420	OMIM:616723	Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type	.	2
HP:0002678	HP:0002678	Skull asymmetry	0	TWIST1 CL E G H	7291	12428	OMIM:101400	Saethre-Chotzen syndrome	.	18

Genes (6) :FGFR2 FTO MASP1 RAD21 RSPRY1 TWIST1

Diseases (5) :OMIM:101400 OMIM:612938 OMIM:257920 OMIM:614701 OMIM:616723

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