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 facial shape (HP:0001999)

Parent Node:
Abnormal facial skeleton morphology (HP:0011821)

Parent Node:
Cranial asymmetry (HP:0000267)

Parent Node:
Facial asymmetry (HP:0000324)

..Starting node
..Craniofacial asymmetry (HP:0004484)

Term ID:

4484

Name:

Craniofacial asymmetry

Synonym:

Abnormality of craniofacial shape; Malformation of craniofacial shape; Uneven craniofacial structures

Definition:

Asymmetry of the bones of the skull and the face.

Comments:

Reference:

HP:0004484

Genes and Diseases:

Child Nodes:

Sister Nodes:

Asymmetric crying face (HP:0011333)

Hemifacial atrophy (HP:0011331)

Hemifacial hypertrophy (HP:0005323)

Hemifacial hypoplasia (HP:0011332)

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:0004484	HP:0004484	Craniofacial asymmetry	0	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome		1
HP:0004484	HP:0004484	Craniofacial asymmetry	0	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0004484	HP:0004484	Craniofacial asymmetry	0	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0004484	HP:0004484	Craniofacial asymmetry	0	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0004484	HP:0004484	Craniofacial asymmetry	0	MAF CL E G H	4094	6776	OMIM:601088	Ayme-Gripp syndrome	HP:0040283 - Occasional	21
HP:0004484	HP:0004484	Craniofacial asymmetry	0	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome		118

Genes (6) :CPLX1 CTBP1 FGFRL1 LETM1 MAF NSD2

Diseases (2) :OMIM:194190 OMIM:601088

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