Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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
..Cranial asymmetry (HP:0000267)

Term ID:

267

Name:

Cranial asymmetry

Synonym:

Abnormality of cranial vault shape; Abnormality of cranium shape; Abnormality of head shape; Asymmetry of cranium; Asymmetry of head; Cranial vault asymmetry; Malformation of cranial vault shape; Malformation of cranium shape; Malformation of head shape; Uneven head shape

Definition:

Asymmetry of the bones of the skull.

Comments:

Reference:

HP:0000267

Genes and Diseases:

Child Nodes:

........

Craniofacial asymmetry (HP:0004484)

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)

Craniosynostosis (HP:0001363)

Dolichocephaly (HP:0000268)

Obliteration of the calvarial diploe (HP:0030312)

Plagiocephaly (HP:0001357)

Platybasia (HP:0002691)

Skull asymmetry (HP:0002678)

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:0000267	HP:0000267	Cranial asymmetry	0	AKT3 CL E G H	10000	393	ORPHA:99802	Hemimegalencephaly	HP:0040282 - Frequent	19
HP:0000267	HP:0000267	Cranial asymmetry	0	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome		1
HP:0000267	HP:0000267	Cranial asymmetry	0	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0000267	HP:0000267	Cranial asymmetry	0	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0000267	HP:0000267	Cranial asymmetry	0	HRAS CL E G H	3265	5173	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome	.	113
HP:0000267	HP:0000267	Cranial asymmetry	0	KRAS CL E G H	3845	6407	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome	.	196
HP:0000267	HP:0000267	Cranial asymmetry	0	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0000267	HP:0000267	Cranial asymmetry	0	MAF CL E G H	4094	6776	OMIM:601088	Ayme-Gripp syndrome		21
HP:0000267	HP:0000267	Cranial asymmetry	0	MTOR CL E G H	2475	3942	ORPHA:99802	Hemimegalencephaly	HP:0040282 - Frequent	68
HP:0000267	HP:0000267	Cranial asymmetry	0	NRAS CL E G H	4893	7989	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome	.	102
HP:0000267	HP:0000267	Cranial asymmetry	0	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome		118
HP:0000267	HP:0000267	Cranial asymmetry	0	PEX19 CL E G H	5824	9713	OMIM:614886	Peroxisome biogenesis disorder 12A (Zellweger)	.	62
HP:0000267	HP:0000267	Cranial asymmetry	0	PIK3CA CL E G H	5290	8975	ORPHA:99802	Hemimegalencephaly	HP:0040282 - Frequent	162
HP:0000267	HP:0000267	Cranial asymmetry	0	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040282 - Frequent	138
HP:0000267	HP:0000267	Cranial asymmetry	0	RNF135 CL E G H	84282	21158	ORPHA:137634	Overgrowth-macrocephaly-facial dysmorphism syndrome	HP:0040283 - Occasional	11
HP:0000267	HP:0004484	Craniofacial asymmetry	1	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome		1
HP:0000267	HP:0004484	Craniofacial asymmetry	1	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0000267	HP:0004484	Craniofacial asymmetry	1	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0000267	HP:0004484	Craniofacial asymmetry	1	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0000267	HP:0004484	Craniofacial asymmetry	1	MAF CL E G H	4094	6776	OMIM:601088	Ayme-Gripp syndrome	HP:0040283 - Occasional	21
HP:0000267	HP:0004484	Craniofacial asymmetry	1	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome		118

Genes (15) :AKT3 CPLX1 CTBP1 FGFRL1 HRAS KRAS LETM1 MAF MTOR NRAS NSD2 PEX19 PIK3CA POLR3A RNF135

Diseases (7) :ORPHA:99802 OMIM:194190 OMIM:163200 OMIM:601088 OMIM:614886 ORPHA:3455 ORPHA:137634

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

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