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
..Bird-like facies (HP:0000320)

Term ID:

320

Name:

Bird-like facies

Synonym:

Bird-like facial appearance

Definition:

Comments:

Reference:

HP:0000320

Genes and Diseases:

Child Nodes:

Sister Nodes:

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)

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:0000320	HP:0000320	Bird-like facies	0	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0000320	HP:0000320	Bird-like facies	0	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	106
HP:0000320	HP:0000320	Bird-like facies	0	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	54
HP:0000320	HP:0000320	Bird-like facies	0	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	2
HP:0000320	HP:0000320	Bird-like facies	0	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	3
HP:0000320	HP:0000320	Bird-like facies	0	LIG4 CL E G H	3981	6601	ORPHA:99812	LIG4 syndrome	HP:0040281 - Very frequent	88
HP:0000320	HP:0000320	Bird-like facies	0	LMNA CL E G H	4000	6636	OMIM:248370	Mandibuloacral dysplasia	.	645
HP:0000320	HP:0000320	Bird-like facies	0	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	9
HP:0000320	HP:0000320	Bird-like facies	0	NHEJ1 CL E G H	79840	25737	ORPHA:169079	Cernunnos-XLF deficiency	HP:0040281 - Very frequent	20
HP:0000320	HP:0000320	Bird-like facies	0	RAD50 CL E G H	10111	9816	OMIM:613078	NIJMEGEN BREAKAGE SYNDROME-LIKE DISORDER; NBSLD		789
HP:0000320	HP:0000320	Bird-like facies	0	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	3
HP:0000320	HP:0000320	Bird-like facies	0	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0000320	HP:0000320	Bird-like facies	0	WNT10A CL E G H	80326	13829	ORPHA:50944	Schöpf-Schulz-Passarge syndrome	HP:0040283 - Occasional	71
HP:0000320	HP:0000320	Bird-like facies	0	WNT10A CL E G H	80326	13829	OMIM:224750	Schopf-Schulz-Passarge syndrome	.	71
HP:0000320	HP:0000320	Bird-like facies	0	WRN CL E G H	7486	12791	OMIM:277700	Werner syndrome		310
HP:0000320	HP:0000320	Bird-like facies	0	XRCC4 CL E G H	7518	12831	ORPHA:99812	LIG4 syndrome	HP:0040281 - Very frequent	9
HP:0000320	HP:0000320	Bird-like facies	0	ZMPSTE24 CL E G H	10269	12877	OMIM:608612	Mandibuloacral dysplasia with type B lipodystrophy	.	83

Genes (16) :CARS1 ERCC2 ERCC3 GTF2E2 GTF2H5 LIG4 LMNA MPLKIP NHEJ1 RAD50 RNF113A TARS1 WNT10A WRN XRCC4 ZMPSTE24

Diseases (9) :ORPHA:33364 ORPHA:99812 OMIM:248370 ORPHA:169079 OMIM:613078 ORPHA:50944 OMIM:224750 OMIM:277700 OMIM:608612

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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