Human Phenotype Ontology 
Grandparent Node:
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Abnormal oral cavity morphology (HP:0000163)help
Parent Node:
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Abnormal oral mucosa morphology (HP:0011830)help
..Starting node
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Abnormal pigmentation of the oral mucosa (HP:0100669)help
Term ID: 100669
Name: Abnormal pigmentation of the oral mucosa
Synonym: Abnormal color of the oral mucosa; Abnormal colour of the oral mucosa; Abnormal pigmentation of oral cavity; Abnormal pigmentation of oral mucous membrane; Abnormal pigmentation of the oral mucosa/gingivae
Definition: An abnormality of the pigmentation of the mucosa of the mouth.
Comments:
Reference: HP:0100669
Genes and Diseases:
 
       Child Nodes:
........expandIntra-oral hyperpigmentation (HP:0010284) help
........expandReticulate pigmentation of oral mucosa (HP:0012788) help

 Sister Nodes: 
..expandAbnormality of the gingiva (HP:0000168) help
..expandEnanthema (HP:0030249) help
..expandErosion of oral mucosa (HP:0031446) help
..expandOral cavity telangiectasia (HP:0000228) help
..expandOral erythroplakia (HP:0030934) help
..expandOral lichenoid lesion (HP:0031453) help
..expandOral mucosa nodule (HP:0031445) help
..expandOral mucosal blisters (HP:0200097) help
..expandOral synechia (HP:0010285) help
..expandOral ulcer (HP:0000155) help
..expandStomatitis (HP:0010280) help
..expandWhite lesion of the oral mucosa (HP:0025125) 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:0100669HP:0100669Abnormal pigmentation of the oral mucosa0ABCC6 CL E G H36857OMIM:264800PSEUDOXANTHOMA ELASTICUM; PXE415
HP:0100669HP:0100669Abnormal pigmentation of the oral mucosa0ABCD1 CL E G H21561ORPHA:139399Adrenomyeloneuropathy135
HP:0100669HP:0100669Abnormal pigmentation of the oral mucosa0ATRX CL E G H546886ORPHA:96253Cushing disease169
HP:0100669HP:0100669Abnormal pigmentation of the oral mucosa0BRAF CL E G H6731097ORPHA:96253Cushing disease276
HP:0100669HP:0100669Abnormal pigmentation of the oral mucosa0CDH23 CL E G H6407213733ORPHA:96253Cushing disease636
HP:0100669HP:0100669Abnormal pigmentation of the oral mucosa0KRT14 CL E G H38616416OMIM:125595Dermatopathia pigmentosa reticularis110
HP:0100669HP:0100669Abnormal pigmentation of the oral mucosa0MTX2 CL E G H106517506OMIM:619127MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0100669HP:0100669Abnormal pigmentation of the oral mucosa0NR3C1 CL E G H29087978ORPHA:96253Cushing disease79
HP:0100669HP:0100669Abnormal pigmentation of the oral mucosa0STK11 CL E G H679411389OMIM:175200Peutz-Jeghers syndrome740
HP:0100669HP:0100669Abnormal pigmentation of the oral mucosa0STK11 CL E G H679411389ORPHA:2869Peutz-Jeghers syndromeHP:0040281 - Very frequent740
HP:0100669HP:0100669Abnormal pigmentation of the oral mucosa0TP53 CL E G H715711998ORPHA:96253Cushing disease911
HP:0100669HP:0100669Abnormal pigmentation of the oral mucosa0USP48 CL E G H8419618533ORPHA:96253Cushing disease1
HP:0100669HP:0100669Abnormal pigmentation of the oral mucosa0USP8 CL E G H910112631ORPHA:96253Cushing disease7
HP:0100669HP:0100669Abnormal pigmentation of the oral mucosa0XYLT1 CL E G H6413115516OMIM:264800PSEUDOXANTHOMA ELASTICUM; PXE14
HP:0100669HP:0100669Abnormal pigmentation of the oral mucosa0XYLT2 CL E G H6413215517OMIM:264800PSEUDOXANTHOMA ELASTICUM; PXE5
HP:0100669HP:0032452Oral melanoacanthoma1 CL E G H
HP:0100669HP:0033026White oral mucosal macule1ABCC6 CL E G H36857OMIM:264800PSEUDOXANTHOMA ELASTICUM; PXE415
HP:0100669HP:0010284Intra-oral hyperpigmentation1ABCD1 CL E G H21561ORPHA:139399AdrenomyeloneuropathyHP:0040282 - Frequent135
HP:0100669HP:0010284Intra-oral hyperpigmentation1ATRX CL E G H546886ORPHA:96253Cushing disease169
HP:0100669HP:0010284Intra-oral hyperpigmentation1BRAF CL E G H6731097ORPHA:96253Cushing disease276
HP:0100669HP:0010284Intra-oral hyperpigmentation1CDH23 CL E G H6407213733ORPHA:96253Cushing disease636
HP:0100669HP:0012788Reticulate pigmentation of oral mucosa1KRT14 CL E G H38616416OMIM:125595Dermatopathia pigmentosa reticularis.110
HP:0100669HP:0010284Intra-oral hyperpigmentation1MTX2 CL E G H106517506OMIM:619127MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0100669HP:0010284Intra-oral hyperpigmentation1NR3C1 CL E G H29087978ORPHA:96253Cushing disease79
HP:0100669HP:0032451Oral melanotic macule1STK11 CL E G H679411389OMIM:175200Peutz-Jeghers syndrome740
HP:0100669HP:0010284Intra-oral hyperpigmentation1TP53 CL E G H715711998ORPHA:96253Cushing disease911
HP:0100669HP:0010284Intra-oral hyperpigmentation1USP48 CL E G H8419618533ORPHA:96253Cushing disease1
HP:0100669HP:0010284Intra-oral hyperpigmentation1USP8 CL E G H910112631ORPHA:96253Cushing disease7
HP:0100669HP:0033026White oral mucosal macule1XYLT1 CL E G H6413115516OMIM:264800PSEUDOXANTHOMA ELASTICUM; PXE14
HP:0100669HP:0033026White oral mucosal macule1XYLT2 CL E G H6413215517OMIM:264800PSEUDOXANTHOMA ELASTICUM; PXE5


Genes (14) :ABCC6 ABCD1 ATRX BRAF CDH23 KRT14 MTX2 NR3C1 STK11 TP53 USP48 USP8 XYLT1 XYLT2

Diseases (7) :OMIM:264800 ORPHA:139399 ORPHA:96253 OMIM:125595 OMIM:619127 OMIM:175200 ORPHA:2869
 

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