Human Phenotype Ontology 
Grandparent Node:
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Abnormal lip morphology (HP:0000159)help
Parent Node:
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Abnormality of upper lip vermillion (HP:0011339)help
Parent Node:
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Thick vermilion border (HP:0012471)help
..Starting node
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Thick upper lip vermilion (HP:0000215)help
Term ID: 215
Name: Thick upper lip vermilion
Synonym: Full upper lip; Full upper lip vermilion; Increased height of upper lip vermilion; Increased volume of upper lip; Increased volume of upper lip vermilion; Plump upper lip; Prominent upper lip; Prominent upper lip vermilion; Thick red part of the upper lip; Thick upper lip; Thick vermilion border of upper lip
Definition: Height of the vermilion of the upper lip in the midline more than 2 SD above the mean. Alternatively, an apparently increased height of the vermilion of the upper lip in the frontal view (subjective).
Comments:
Reference: HP:0000215
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandThick lower lip vermilion (HP:0000179) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000215HP:0000215Thick upper lip vermilion0ABCC9 CL E G H1006060OMIM:239850Hypertrichotic osteochondrodysplasia.254
HP:0000215HP:0000215Thick upper lip vermilion0APC CL E G H324583ORPHA:261584Familial adenomatous polyposis due to 5q22.2 microdeletionHP:0040282 - Frequent3179
HP:0000215HP:0000215Thick upper lip vermilion0BRCA1 CL E G H6721100OMIM:617883Fanconi anemia, complementation group S.5769
HP:0000215HP:0000215Thick upper lip vermilion0CDK13 CL E G H86211733OMIM:617360Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder8
HP:0000215HP:0000215Thick upper lip vermilion0CILK1 CL E G H2285821219OMIM:612651ENDOCRINE-CEREBROOSTEODYSPLASIA
HP:0000215HP:0000215Thick upper lip vermilion0COL11A1 CL E G H13012186ORPHA:560Marshall syndromeHP:0040281 - Very frequent215
HP:0000215HP:0000215Thick upper lip vermilion0COL11A1 CL E G H13012186OMIM:154780Marshall syndrome.215
HP:0000215HP:0000215Thick upper lip vermilion0DENND5A CL E G H2325819344OMIM:617281Epileptic encephalopathy, early infantile, 49.6
HP:0000215HP:0000215Thick upper lip vermilion0EBF3 CL E G H25373819087OMIM:617330HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS25
HP:0000215HP:0000215Thick upper lip vermilion0GPC4 CL E G H22394452OMIM:301026Keipert syndrome.
HP:0000215HP:0000215Thick upper lip vermilion0KDM4B CL E G H2303029136OMIM:619320INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0000215HP:0000215Thick upper lip vermilion0MINPP1 CL E G H95627102ORPHA:284339Pontocerebellar hypoplasia type 7HP:0040282 - Frequent3
HP:0000215HP:0000215Thick upper lip vermilion0NAA10 CL E G H826018704OMIM:300855Ogden syndrome.23
HP:0000215HP:0000215Thick upper lip vermilion0NAA20 CL E G H5112615908OMIM:619717INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73; MRT73
HP:0000215HP:0000215Thick upper lip vermilion0NOG CL E G H92417866OMIM:186500Multiple synostoses syndrome 1.22
HP:0000215HP:0000215Thick upper lip vermilion0NSUN2 CL E G H5488825994OMIM:611091Mental retardation, autosomal recessive 5.84
HP:0000215HP:0000215Thick upper lip vermilion0PAK3 CL E G H50638592OMIM:300558MENTAL RETARDATION, X-LINKED 30; MRX3027
HP:0000215HP:0000215Thick upper lip vermilion0RPS7 CL E G H620110440OMIM:612563Diamond-Blackfan anemia 8.20
HP:0000215HP:0000215Thick upper lip vermilion0SC5D CL E G H630910547OMIM:607330LATHOSTEROLOSIS80
HP:0000215HP:0000215Thick upper lip vermilion0SPATA5L1 CL E G H7902928762OMIM:619616NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY; NEDHLS
HP:0000215HP:0000215Thick upper lip vermilion0STRADA CL E G H9233530172OMIM:611087Polyhydramnios, megalencephaly, and symptomatic epilepsy6
HP:0000215HP:0000215Thick upper lip vermilion0THOC6 CL E G H7922828369ORPHA:363444THOC6-related developmental delay-microcephaly-facial dysmorphism syndromeHP:0040283 - Occasional1
HP:0000215HP:0000215Thick upper lip vermilion0TMEM53 CL E G H7963926186OMIM:619727CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE; CTDI
HP:0000215HP:0000215Thick upper lip vermilion0TOE1 CL E G H11403415954ORPHA:284339Pontocerebellar hypoplasia type 7HP:0040282 - Frequent6
HP:0000215HP:0000215Thick upper lip vermilion0TOE1 CL E G H11403415954OMIM:614969Pontocerebellar hypoplasia, type 7.6
HP:0000215HP:0000215Thick upper lip vermilion0TWIST2 CL E G H11758120670OMIM:227260FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE; FFDD37
HP:0000215HP:0000215Thick upper lip vermilion0VPS51 CL E G H7381172OMIM:618606PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13
HP:0000215HP:0000215Thick upper lip vermilion0WDR26 CL E G H8023221208OMIM:617616Skraban-Deardorff syndrome.8


Genes (26) :ABCC9 APC BRCA1 CDK13 CILK1 COL11A1 DENND5A EBF3 GPC4 KDM4B MINPP1 NAA10 NAA20 NOG NSUN2 PAK3 RPS7 SC5D SPATA5L1 STRADA THOC6 TMEM53 TOE1 TWIST2 VPS51 WDR26

Diseases (27) :OMIM:239850 ORPHA:261584 OMIM:617883 OMIM:617360 OMIM:612651 ORPHA:560 OMIM:154780 OMIM:617281 OMIM:617330 OMIM:301026 OMIM:619320 ORPHA:284339 OMIM:300855 OMIM:619717 OMIM:186500 OMIM:611091 OMIM:300558 OMIM:612563 OMIM:607330 OMIM:619616 OMIM:611087 ORPHA:363444 OMIM:619727 OMIM:614969 OMIM:227260 OMIM:618606 OMIM:617616
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.