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 midface morphology (HP:0000309)

Parent Node:
Abnormal cheek morphology (HP:0004426)

..Starting node
..Sunken cheeks (HP:0009938)

Term ID:

9938

Name:

Sunken cheeks

Synonym:

Depressed cheeks; Hollow cheeks; Sunken cheeks

Definition:

Lack or loss of the soft tissues between the zygomata and mandible.

Comments:

Reference:

HP:0009938

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal buccal fat pad morphology (HP:3000021)

Abnormal buccal mucosa morphology (HP:3000019)

Abnormal periauricular region morphology (HP:0000383)

Abnormality of buccinator muscle (HP:3000027)

Abnormality of risorius muscle (HP:3000015)

Abnormality of zygomaticus major muscle (HP:3000018)

Abnormality of zygomaticus minor muscle (HP:3000020)

Full cheeks (HP:0000293)

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:0009938	HP:0009938	Sunken cheeks	0	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2	HP:0040283 - Occasional
HP:0009938	HP:0009938	Sunken cheeks	0	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7		11
HP:0009938	HP:0009938	Sunken cheeks	0	LRP1 CL E G H	4035	6692	OMIM:604093	Keratosis pilaris atrophicans		4
HP:0009938	HP:0009938	Sunken cheeks	0	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation		32
HP:0009938	HP:0009938	Sunken cheeks	0	PSMC3 CL E G H	5702	9549	OMIM:619354	DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY; DCIDP
HP:0009938	HP:0009938	Sunken cheeks	0	TUBB4A CL E G H	10382	20774	OMIM:128101	Dystonia 4, torsion, autosomal dominant	.	66
HP:0009938	HP:0009938	Sunken cheeks	0	TUBB4A CL E G H	10382	20774	ORPHA:98805	Primary dystonia, DYT4 type	HP:0040282 - Frequent	66

Genes (6) :AEBP1 CAV1 LRP1 NGLY1 PSMC3 TUBB4A

Diseases (7) :ORPHA:536532 OMIM:606721 OMIM:604093 OMIM:615273 OMIM:619354 OMIM:128101 ORPHA:98805

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