Human Phenotype Ontology 
Grandparent Node:
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Telangiectasia (HP:0001009)help
Parent Node:
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Abnormal oral mucosa morphology (HP:0011830)help
Parent Node:
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Mucosal telangiectasiae (HP:0100579)help
..Starting node
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Oral cavity telangiectasia (HP:0000228)help
Term ID: 228
Name: Oral cavity telangiectasia
Synonym: Angioectasias of the mouth; Angioectasias of the oral cavity; Oral cavity teleangiectasia; Spider veins of the mouth; Spider veins of the oral cavity
Definition: Presence of telangiectases in the oral cavity.
Comments:
Reference: HP:0000228
Genes and Diseases:
 
       Child Nodes:
........expandLip telangiectasia (HP:0000214) help
........expandTongue telangiectasia (HP:0000227) help
........expandPalate telangiectasia (HP:0002707) help
........expandTelangiectasia of the oral mucosa (HP:0007428) help

 Sister Nodes: 
..expandConjunctival telangiectasia (HP:0000524) help
..expandGastrointestinal telangiectasia (HP:0002604) help
..expandNasal mucosa telangiectasia (HP:0000434) 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:0000228HP:0000228Oral cavity telangiectasia0ACVRL1 CL E G H94175OMIM:600376Telangiectasia, hereditary hemorrhagic, type 2178
HP:0000228HP:0000228Oral cavity telangiectasia0ENG CL E G H20223349OMIM:187300Telangiectasia, hereditary hemorrhagic, type 1186
HP:0000228HP:0000228Oral cavity telangiectasia0LBR CL E G H39306518OMIM:613471Reynolds syndrome70
HP:0000228HP:0000228Oral cavity telangiectasia0NAGA CL E G H46687631ORPHA:79280Alpha-N-acetylgalactosaminidase deficiency type 247
HP:0000228HP:0000228Oral cavity telangiectasia0NAGA CL E G H46687631OMIM:609242Kanzaki disease47
HP:0000228HP:0000214Lip telangiectasia1ACVRL1 CL E G H94175OMIM:600376Telangiectasia, hereditary hemorrhagic, type 2.178
HP:0000228HP:0002707Palate telangiectasia1ACVRL1 CL E G H94175OMIM:600376Telangiectasia, hereditary hemorrhagic, type 2.178
HP:0000228HP:0000227Tongue telangiectasia1ACVRL1 CL E G H94175OMIM:600376Telangiectasia, hereditary hemorrhagic, type 2.178
HP:0000228HP:0002707Palate telangiectasia1ENG CL E G H20223349OMIM:187300Telangiectasia, hereditary hemorrhagic, type 1.186
HP:0000228HP:0000227Tongue telangiectasia1ENG CL E G H20223349OMIM:187300Telangiectasia, hereditary hemorrhagic, type 1.186
HP:0000228HP:0000214Lip telangiectasia1ENG CL E G H20223349OMIM:187300Telangiectasia, hereditary hemorrhagic, type 1.186
HP:0000228HP:0000214Lip telangiectasia1LBR CL E G H39306518OMIM:613471Reynolds syndrome.70
HP:0000228HP:0000214Lip telangiectasia1NAGA CL E G H46687631ORPHA:79280Alpha-N-acetylgalactosaminidase deficiency type 2HP:0040281 - Very frequent47
HP:0000228HP:0007428Telangiectasia of the oral mucosa1NAGA CL E G H46687631ORPHA:79280Alpha-N-acetylgalactosaminidase deficiency type 2HP:0040281 - Very frequent47
HP:0000228HP:0000214Lip telangiectasia1NAGA CL E G H46687631OMIM:609242Kanzaki disease.47
HP:0000228HP:0007428Telangiectasia of the oral mucosa1NAGA CL E G H46687631OMIM:609242Kanzaki disease.47


Genes (4) :ACVRL1 ENG LBR NAGA

Diseases (5) :OMIM:600376 OMIM:187300 OMIM:613471 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.