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:
Abnormal lip morphology (HP:0000159)

Parent Node:
Abnormal lower lip morphology (HP:0000178)

Parent Node:
Thin vermilion border (HP:0000233)

..Starting node
..Thin lower lip vermilion (HP:0010282)

Term ID:

10282

Name:

Thin lower lip vermilion

Synonym:

Decreased height of lower lip vermilion; Decreased volume of lower lip; Decreased volume of lower lip vermilion; Thin lower lip; Thin red part of the lower lip; Thin vermilion border of lower lip

Definition:

Height of the vermilion of the medial part of the lower lip more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the lower lip in the frontal view (subjective).

Comments:

Reference:

HP:0010282

Genes and Diseases:

Child Nodes:

Sister Nodes:

Thin upper lip vermilion (HP:0000219)

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:0010282	HP:0010282	Thin lower lip vermilion	0	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0010282	HP:0010282	Thin lower lip vermilion	0	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	1
HP:0010282	HP:0010282	Thin lower lip vermilion	0	KNSTRN CL E G H	90417	30767	OMIM:613328	Roifman-Chitayat syndrome	.	1
HP:0010282	HP:0010282	Thin lower lip vermilion	0	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome	HP:0040283 - Occasional	37
HP:0010282	HP:0010282	Thin lower lip vermilion	0	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	9
HP:0010282	HP:0010282	Thin lower lip vermilion	0	PIK3CD CL E G H	5293	8977	OMIM:613328	Roifman-Chitayat syndrome	.	9
HP:0010282	HP:0010282	Thin lower lip vermilion	0	THOC6 CL E G H	79228	28369	ORPHA:363444	THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome	HP:0040283 - Occasional	1

Genes (5) :HS2ST1 KNSTRN PIGN PIK3CD THOC6

Diseases (5) :OMIM:619194 ORPHA:221139 OMIM:613328 ORPHA:280633 ORPHA:363444

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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