Human Phenotype Ontology 
Grandparent Node:
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Abnormal lip morphology (HP:0000159)help
Parent Node:
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Abnormal upper lip morphology (HP:0000177)help
..Starting node
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Long upper lip (HP:0011341)help
Term ID: 11341
Name: Long upper lip
Synonym: Elongation of upper lip; Increased height of upper lip; Increased vertical length of upper lip; Long upper lip
Definition: Increased width of the upper lip.
Comments:
Reference: HP:0011341
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormality of the philtrum (HP:0000288) help
..expandAbnormality of upper lip vermillion (HP:0011339) help
..expandCleft upper lip (HP:0000204) help
..expandDuplication of the upper lip (HP:0040295) help
..expandShort upper lip (HP:0000188) help
..expandUpper lip pit (HP:0100268) 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:0011341HP:0011341Long upper lip0AFF2 CL E G H23343776OMIM:309548Mental retardation, X-linked, associated with fragile site fraxe59
HP:0011341HP:0011341Long upper lip0ARX CL E G H17030218060OMIM:300215Lissencephaly, X-linked, 2.166
HP:0011341HP:0011341Long upper lip0B3GALT6 CL E G H12679217978OMIM:615349Ehlers-Danlos syndrome, spondylodysplastic type, 2.38
HP:0011341HP:0011341Long upper lip0B3GALT6 CL E G H12679217978ORPHA:93359Spondyloepimetaphyseal dysplasia with joint laxityHP:0040283 - Occasional38
HP:0011341HP:0011341Long upper lip0B3GALT6 CL E G H12679217978OMIM:271640Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures.38
HP:0011341HP:0011341Long upper lip0DIS3L2 CL E G H12956328648OMIM:267000Perlman syndrome.164
HP:0011341HP:0011341Long upper lip0EXOC6B CL E G H2323317085ORPHA:93359Spondyloepimetaphyseal dysplasia with joint laxityHP:0040283 - Occasional3
HP:0011341HP:0011341Long upper lip0SLC35C1 CL E G H5534320197ORPHA:99843Leukocyte adhesion deficiency type IIHP:0040283 - Occasional71
HP:0011341HP:0011341Long upper lip0TBL1XR1 CL E G H7971829529ORPHA:487825Pierpont syndromeHP:0040282 - Frequent22
HP:0011341HP:0011341Long upper lip0TBL1XR1 CL E G H7971829529OMIM:602342Pierpont syndrome.22
HP:0011341HP:0011341Long upper lip0TRPS1 CL E G H722712340ORPHA:77258Trichorhinophalangeal syndrome type 1 and 3HP:0040281 - Very frequent171


Genes (8) :AFF2 ARX B3GALT6 DIS3L2 EXOC6B SLC35C1 TBL1XR1 TRPS1

Diseases (10) :OMIM:309548 OMIM:300215 OMIM:615349 ORPHA:93359 OMIM:271640 OMIM:267000 ORPHA:99843 ORPHA:487825 OMIM:602342 ORPHA:77258
 

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