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:
Abnormality of the face (HP:0000271)

Parent Node:
Abnormal facial shape (HP:0001999)

..Starting node
..Moon facies (HP:0500011)

Term ID:

500011

Name:

Moon facies

Synonym:

Moon face; Puffy face; Puffy facies

Definition:

A rounded, puffy face with fat deposits in the temporal fossa and cheeks, a double chin.

Comments:

Reference:

HP:0500011

Genes and Diseases:

Child Nodes:

Sister Nodes:

Bird-like facies (HP:0000320)

Coarse facial features (HP:0000280)

Craniofacial disproportion (HP:0005461)

Doll-like facies (HP:0000295)

Elfin facies (HP:0004428)

Facial asymmetry (HP:0000324)

Facial shape deformation (HP:0011334)

Flat face (HP:0012368)

Large face (HP:0100729)

obsolete Abnormality of the shape of the midface (HP:0430026)

Oval face (HP:0000300)

Round face (HP:0000311)

Small face (HP:0000274)

Square face (HP:0000321)

Triangular face (HP:0000325)

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:0500011	HP:0500011	Moon facies	0	ARMC5 CL E G H	79798	25781	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia		7
HP:0500011	HP:0500011	Moon facies	0	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease		169
HP:0500011	HP:0500011	Moon facies	0	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease		276
HP:0500011	HP:0500011	Moon facies	0	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease		636
HP:0500011	HP:0500011	Moon facies	0	GNAS CL E G H	2778	4392	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia		101
HP:0500011	HP:0500011	Moon facies	0	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0500011	HP:0500011	Moon facies	0	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease		79
HP:0500011	HP:0500011	Moon facies	0	PDE11A CL E G H	50940	8773	ORPHA:1359	Carney complex		13
HP:0500011	HP:0500011	Moon facies	0	PDE11A CL E G H	50940	8773	ORPHA:189439	Primary pigmented nodular adrenocortical disease		13
HP:0500011	HP:0500011	Moon facies	0	PDE8B CL E G H	8622	8794	ORPHA:189439	Primary pigmented nodular adrenocortical disease		75
HP:0500011	HP:0500011	Moon facies	0	PRKACA CL E G H	5566	9380	OMIM:615830	Pigmented nodular adrenocortical disease, primary, 4	.	2
HP:0500011	HP:0500011	Moon facies	0	PRKACA CL E G H	5566	9380	ORPHA:189439	Primary pigmented nodular adrenocortical disease		2
HP:0500011	HP:0500011	Moon facies	0	PRKAR1A CL E G H	5573	9388	ORPHA:1359	Carney complex		134
HP:0500011	HP:0500011	Moon facies	0	PRKAR1A CL E G H	5573	9388	ORPHA:189439	Primary pigmented nodular adrenocortical disease		134
HP:0500011	HP:0500011	Moon facies	0	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease		911
HP:0500011	HP:0500011	Moon facies	0	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease		1
HP:0500011	HP:0500011	Moon facies	0	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease		7
HP:0500011	HP:0500011	Moon facies	0	XYLT1 CL E G H	64131	15516	ORPHA:370930	XYLT1-CDG	HP:0040282 - Frequent	14

Genes (15) :ARMC5 ATRX BRAF CDH23 GNAS H4C5 NR3C1 PDE11A PDE8B PRKACA PRKAR1A TP53 USP48 USP8 XYLT1

Diseases (7) :ORPHA:189427 ORPHA:96253 OMIM:619950 ORPHA:1359 ORPHA:189439 OMIM:615830 ORPHA:370930

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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