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 lip morphology (HP:0000159)

Parent Node:
Abnormal upper lip morphology (HP:0000177)

..Starting node
..Short upper lip (HP:0000188)

Term ID:

188

Name:

Short upper lip

Synonym:

Decreased height of upper lip; Decreased upper labial height; Decreased upper labial length; Decreased vertical length of upper lip; Short upper lip; Shortening of upper lip; Vertical deficiency of upper lip

Definition:

Decreased width of the upper lip.

Comments:

Reference:

HP:0000188

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormality of the philtrum (HP:0000288)

Abnormality of upper lip vermillion (HP:0011339)

Cleft upper lip (HP:0000204)

Duplication of the upper lip (HP:0040295)

Long upper lip (HP:0011341)

Upper lip pit (HP:0100268)

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:0000188	HP:0000188	Short upper lip	0	AMPD2 CL E G H	271	469	OMIM:615809	Pontocerebellar hypoplasia, type 9	.	21
HP:0000188	HP:0000188	Short upper lip	0	ATRX CL E G H	546	886	OMIM:309580	Mental retardation-hypotonic facies syndrome, X-linked, 1	.	169
HP:0000188	HP:0000188	Short upper lip	0	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent	1
HP:0000188	HP:0000188	Short upper lip	0	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent	2
HP:0000188	HP:0000188	Short upper lip	0	EMC1 CL E G H	23065	28957	OMIM:616875	Cerebellar atrophy, visual impairment, and psychomotor retardation		5
HP:0000188	HP:0000188	Short upper lip	0	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent
HP:0000188	HP:0000188	Short upper lip	0	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome	.	111
HP:0000188	HP:0000188	Short upper lip	0	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome	HP:0040282 - Frequent	111
HP:0000188	HP:0000188	Short upper lip	0	GRIA3 CL E G H	2892	4573	ORPHA:364028	X-linked intellectual disability due to GRIA3 mutations	HP:0040283 - Occasional	30
HP:0000188	HP:0000188	Short upper lip	0	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent	2
HP:0000188	HP:0000188	Short upper lip	0	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent	118
HP:0000188	HP:0000188	Short upper lip	0	TWIST2 CL E G H	117581	20670	OMIM:200110	Ablepharon-Macrostomia syndrome	HP:0040283 - Occasional	7
HP:0000188	HP:0000188	Short upper lip	0	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome	HP:0040282 - Frequent	6

Genes (12) :AMPD2 ATRX CPLX1 CTBP1 EMC1 FGFRL1 FIG4 GRIA3 LETM1 NSD2 TWIST2 VAC14

Diseases (8) :OMIM:615809 OMIM:309580 OMIM:194190 OMIM:616875 OMIM:216340 ORPHA:3472 ORPHA:364028 OMIM:200110

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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