Human Phenotype Ontology 
Grandparent Node:
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Abnormal oral cavity morphology (HP:0000163)help
Parent Node:
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Abnormality of mouth shape (HP:0011338)help
..Starting node
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Triangular mouth (HP:0000207)help
Term ID: 207
Name: Triangular mouth
Synonym: Triangular mouth; Triangular shaped mouth; Triangular shaped oral aperture
Definition: The presence of a triangular form of the mouth.
Comments:
Reference: HP:0000207
Genes and Diseases:
 
       Child Nodes:
........expandTriangular-shaped open mouth (HP:0200096) help

 Sister Nodes: 
..expandAsymmetry of the mouth (HP:0009941) help
..expandDownturned corners of mouth (HP:0002714) help
..expandOpen mouth (HP:0000194) help
..expandPursed lips (HP:0000205) help
..expandTransverse facial cleft (HP:0100731) help
..expandUpturned corners of mouth (HP:0010805) 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:0000207HP:0000207Triangular mouth0BAP1 CL E G H8314950OMIM:619762KURY-ISIDOR SYNDROME; KURIS184
HP:0000207HP:0000207Triangular mouth0BUB1B CL E G H7011149OMIM:257300Mosaic variegated aneuploidy syndrome 1.76
HP:0000207HP:0000207Triangular mouth0CHRNG CL E G H11461967OMIM:265000Multiple pterygium syndrome, escobar variant68
HP:0000207HP:0000207Triangular mouth0COLQ CL E G H82922226ORPHA:98915Synaptic congenital myasthenic syndromesHP:0040284 - Very rare90
HP:0000207HP:0000207Triangular mouth0DVL1 CL E G H18553084OMIM:180700Robinow syndrome, autosomal dominant 1.14
HP:0000207HP:0000207Triangular mouth0DVL1 CL E G H18553084OMIM:616331Robinow syndrome, autosomal dominant 2.14
HP:0000207HP:0000207Triangular mouth0DVL3 CL E G H18573087OMIM:616894ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS35
HP:0000207HP:0000207Triangular mouth0ERCC2 CL E G H20683434OMIM:601675Trichothiodystrophy 1, photosensitive.106
HP:0000207HP:0000207Triangular mouth0GTPBP2 CL E G H546764670OMIM:617988Jaberi-Elahi syndrome.
HP:0000207HP:0000207Triangular mouth0INPP5E CL E G H5662321474OMIM:213300Joubert syndrome 1111
HP:0000207HP:0000207Triangular mouth0KIF7 CL E G H37465430497OMIM:200990Acrocallosal syndrome.167
HP:0000207HP:0000207Triangular mouth0KIF7 CL E G H37465430497OMIM:607131Al-Gazali-Bakalinova syndrome167
HP:0000207HP:0000207Triangular mouth0KIF7 CL E G H37465430497ORPHA:166024Multiple epiphyseal dysplasia, Al-Gazali typeHP:0040281 - Very frequent167
HP:0000207HP:0000207Triangular mouth0LAMB2 CL E G H39136487ORPHA:98915Synaptic congenital myasthenic syndromesHP:0040284 - Very rare92
HP:0000207HP:0000207Triangular mouth0NCAPG2 CL E G H5489221904OMIM:618460Khan-Khan-Katsanis syndrome.2
HP:0000207HP:0000207Triangular mouth0NXN CL E G H6435918008OMIM:618529Robinow syndrome, autosomal recessive 2.2
HP:0000207HP:0000207Triangular mouth0PIGA CL E G H52778957OMIM:300868Multiple congenital anomalies-hypotonia-seizures syndrome 2.46
HP:0000207HP:0000207Triangular mouth0PPP1CB CL E G H55009282OMIM:617506Noonan syndrome-like disorder with loose anagen hair 29
HP:0000207HP:0000207Triangular mouth0ROR2 CL E G H492010257OMIM:268310Robinow syndrome, autosomal recessive.120
HP:0000207HP:0000207Triangular mouth0SNRPN CL E G H663811164ORPHA:177907Prader-Willi syndrome due to translocation37
HP:0000207HP:0000207Triangular mouth0TFAP2B CL E G H702111743OMIM:169100Char syndrome.104
HP:0000207HP:0000207Triangular mouth0TFAP2B CL E G H702111743ORPHA:46627Char syndromeHP:0040281 - Very frequent104
HP:0000207HP:0000207Triangular mouth0WNT5A CL E G H747412784OMIM:180700Robinow syndrome, autosomal dominant 1.98
HP:0000207HP:0200096Triangular-shaped open mouth1INPP5E CL E G H5662321474OMIM:213300Joubert syndrome 1.111
HP:0000207HP:0200096Triangular-shaped open mouth1SNRPN CL E G H663811164ORPHA:177907Prader-Willi syndrome due to translocationHP:0040283 - Occasional37


Genes (19) :BAP1 BUB1B CHRNG COLQ DVL1 DVL3 ERCC2 GTPBP2 INPP5E KIF7 LAMB2 NCAPG2 NXN PIGA PPP1CB ROR2 SNRPN TFAP2B WNT5A

Diseases (21) :OMIM:619762 OMIM:257300 OMIM:265000 ORPHA:98915 OMIM:180700 OMIM:616331 OMIM:616894 OMIM:601675 OMIM:617988 OMIM:213300 OMIM:200990 OMIM:607131 ORPHA:166024 OMIM:618460 OMIM:618529 OMIM:300868 OMIM:617506 OMIM:268310 ORPHA:177907 OMIM:169100 ORPHA:46627
 

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