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
..Elfin facies (HP:0004428)

Term ID:

4428

Name:

Elfin facies

Synonym:

Elf-like facial appearance; Elf-like facial features; Leprechaun facies

Definition:

This is a description previously used to describe a facial form characterized by a short, upturned nose, wide mouth, widely spaced eyes, and full cheeks. Because of the imprecision in this definition it is preferable to describe these features precisely. This term is retained because it was often used in the past, but it should not be used for new annotations.

Comments:

Reference:

HP:0004428

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)

Facial asymmetry (HP:0000324)

Facial shape deformation (HP:0011334)

Flat face (HP:0012368)

Large face (HP:0100729)

Moon facies (HP:0500011)

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:0004428	HP:0004428	Elfin facies	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0004428	HP:0004428	Elfin facies	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0004428	HP:0004428	Elfin facies	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0004428	HP:0004428	Elfin facies	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0004428	HP:0004428	Elfin facies	0	CYP24A1 CL E G H	1591	2602	OMIM:143880	Hypercalcemia, infantile, 1	.	73
HP:0004428	HP:0004428	Elfin facies	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0004428	HP:0004428	Elfin facies	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0004428	HP:0004428	Elfin facies	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	172
HP:0004428	HP:0004428	Elfin facies	0	FARSA CL E G H	2193	3592	OMIM:619013	RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2; RILDBC2
HP:0004428	HP:0004428	Elfin facies	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0004428	HP:0004428	Elfin facies	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0004428	HP:0004428	Elfin facies	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0004428	HP:0004428	Elfin facies	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0004428	HP:0004428	Elfin facies	0	HEPHL1 CL E G H	341208	30477	OMIM:261990	PILI TORTI AND DEVELOPMENTAL DELAY
HP:0004428	HP:0004428	Elfin facies	0	INSR CL E G H	3643	6091	OMIM:246200	Donohue syndrome	.	229
HP:0004428	HP:0004428	Elfin facies	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0004428	HP:0004428	Elfin facies	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0004428	HP:0004428	Elfin facies	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0004428	HP:0004428	Elfin facies	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	13
HP:0004428	HP:0004428	Elfin facies	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0004428	HP:0004428	Elfin facies	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0004428	HP:0004428	Elfin facies	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0004428	HP:0004428	Elfin facies	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0004428	HP:0004428	Elfin facies	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent

Genes (24) :BAZ1B BCL7B BUD23 CLIP2 CYP24A1 DNAJC30 EIF4H ELN FARSA FKBP6 GTF2I GTF2IRD1 GTF2IRD2 HEPHL1 INSR LIMK1 METTL27 MLXIPL NCF1 RFC2 STX1A TBL2 TMEM270 VPS37D

Diseases (5) :ORPHA:904 OMIM:143880 OMIM:619013 OMIM:261990 OMIM:246200

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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