Human Phenotype Ontology 
Grandparent Node:
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Abnormal oral mucosa morphology (HP:0011830)help
Grandparent Node:
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Mucosal telangiectasiae (HP:0100579)help
Parent Node:
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Oral cavity telangiectasia (HP:0000228)help
..Starting node
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Telangiectasia of the oral mucosa (HP:0007428)help
Term ID: 7428
Name: Telangiectasia of the oral mucosa
Synonym: Angioectasia of the oral mucosa; Angioectasia of the oral mucous membrane; Spider veins of the oral mucosa; Telangiectasia of the oral mucous membrane
Definition: Telangiectasia (that is, the presence of small dilated superficial blood vessels) of the oral mucosa.
Comments:
Reference: HP:0007428
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandLip telangiectasia (HP:0000214) help
..expandPalate telangiectasia (HP:0002707) help
..expandTongue telangiectasia (HP:0000227) 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:0007428HP:0007428Telangiectasia of the oral mucosa0NAGA CL E G H46687631ORPHA:79280Alpha-N-acetylgalactosaminidase deficiency type 2HP:0040281 - Very frequent47
HP:0007428HP:0007428Telangiectasia of the oral mucosa0NAGA CL E G H46687631OMIM:609242Kanzaki disease.47


Genes (1) :NAGA

Diseases (2) :ORPHA:79280 OMIM:609242
 

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