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:
Abnormality of the forehead (HP:0000290)

Parent Node:
Abnormality of the glabella (HP:0002056)

..Starting node
..Prominent glabella (HP:0002057)

Term ID:

2057

Name:

Prominent glabella

Synonym:

Convex glabella; Hyperplasia of glabella; Prominent area between the eyebrows; Protruding area between the eyebrows

Definition:

Forward protrusion of the glabella.

Comments:

Reference:

HP:0002057

Genes and Diseases:

Child Nodes:

Sister Nodes:

Depressed glabella (HP:0011222)

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:0002057	HP:0002057	Prominent glabella	0	ALX1 CL E G H	8092	1494	OMIM:613456	Frontonasal dysplasia 3	.	5
HP:0002057	HP:0002057	Prominent glabella	0	ASXL2 CL E G H	55252	23805	OMIM:617190	Shashi-Pena syndrome		7
HP:0002057	HP:0002057	Prominent glabella	0	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12		2
HP:0002057	HP:0002057	Prominent glabella	0	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome		1
HP:0002057	HP:0002057	Prominent glabella	0	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0002057	HP:0002057	Prominent glabella	0	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional	1
HP:0002057	HP:0002057	Prominent glabella	0	DPM1 CL E G H	8813	3005	ORPHA:79322	DPM1-CDG	HP:0040283 - Occasional	27
HP:0002057	HP:0002057	Prominent glabella	0	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0002057	HP:0002057	Prominent glabella	0	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0002057	HP:0002057	Prominent glabella	0	INTS8 CL E G H	55656	26048	OMIM:618572	NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY; NEDCHS		2
HP:0002057	HP:0002057	Prominent glabella	0	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0002057	HP:0002057	Prominent glabella	0	LMBRD2 CL E G H	92255	25287	OMIM:619694	DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES; DENBA
HP:0002057	HP:0002057	Prominent glabella	0	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional	1
HP:0002057	HP:0002057	Prominent glabella	0	NBAS CL E G H	51594	15625	OMIM:614800	Short stature, optic nerve atrophy, and pelger-huet anomaly	.	25
HP:0002057	HP:0002057	Prominent glabella	0	NF1 CL E G H	4763	7765	ORPHA:363700	Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion	HP:0040283 - Occasional	1952
HP:0002057	HP:0002057	Prominent glabella	0	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome		118
HP:0002057	HP:0002057	Prominent glabella	0	PUS7 CL E G H	54517	26033	OMIM:618342	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
HP:0002057	HP:0002057	Prominent glabella	0	RSPO2 CL E G H	340419	28583	OMIM:618022	Humerofemoral hypoplasia with radiotibial ray deficiency	.
HP:0002057	HP:0002057	Prominent glabella	0	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional
HP:0002057	HP:0002057	Prominent glabella	0	SPOP CL E G H	8405	11254	OMIM:618828	NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS1		16
HP:0002057	HP:0002057	Prominent glabella	0	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0002057	HP:0002057	Prominent glabella	0	TASP1 CL E G H	55617	15859	OMIM:618950	SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0002057	HP:0002057	Prominent glabella	0	TMEM53 CL E G H	79639	26186	OMIM:619727	CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE; CTDI

Genes (23) :ALX1 ASXL2 BICRA CPLX1 CTBP1 DLK1 DPM1 FGFRL1 H4C5 INTS8 LETM1 LMBRD2 MEG3 NBAS NF1 NSD2 PUS7 RSPO2 RTL1 SPOP SPTBN1 TASP1 TMEM53

Diseases (17) :OMIM:613456 OMIM:617190 OMIM:619325 OMIM:194190 ORPHA:96334 ORPHA:79322 OMIM:619950 OMIM:618572 OMIM:619694 OMIM:614800 ORPHA:363700 OMIM:618342 OMIM:618022 OMIM:618828 OMIM:619475 OMIM:618950 OMIM:619727

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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