Human Phenotype Ontology 
Grandparent Node:
expand
Telangiectasia (HP:0001009)help
Parent Node:
expand
Abnormal skin morphology of the palm (HP:0040211)help
Parent Node:
expand
Telangiectasia of the skin (HP:0100585)help
..Starting node
..expand
Palmar telangiectasia (HP:0100869)help
Term ID: 100869
Name: Palmar telangiectasia
Synonym: Telangiectases of palms and soles; Teleangiectases of palms
Definition: The presence of telangiectases on the skin of palm of hand.
Comments:
Reference: HP:0100869
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandFacial telangiectasia (HP:0007380) help
..expandFingerpad telangiectases (HP:0006107) help
..expandobsolete Telangiectases in sun-exposed and nonexposed skin (HP:0007561) help
..expandPeriungual teleangiectasia (HP:0025555) help
..expandPlantar telangiectasia (HP:0100870) help
..expandSpider hemangioma (HP:0012522) help
..expandTelangiectases producing 'marbled' skin (HP:0007586) help
..expandTelangiectasia of extensor surfaces (HP:0007621) help
..expandTelangiectasia of the ear (HP:0009893) 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:0100869HP:0100869Palmar telangiectasia0ACVRL1 CL E G H94175OMIM:600376Telangiectasia, hereditary hemorrhagic, type 2178
HP:0100869HP:0100869Palmar telangiectasia0GPR35 CL E G H28594492ORPHA:171Primary sclerosing cholangitisHP:0040282 - Frequent2
HP:0100869HP:0100869Palmar telangiectasia0LBR CL E G H39306518OMIM:613471Reynolds syndrome.70
HP:0100869HP:0100869Palmar telangiectasia0MST1 CL E G H44857380ORPHA:171Primary sclerosing cholangitisHP:0040282 - Frequent1
HP:0100869HP:0100869Palmar telangiectasia0SEMA4D CL E G H1050710732ORPHA:171Primary sclerosing cholangitisHP:0040282 - Frequent
HP:0100869HP:0100869Palmar telangiectasia0SOX18 CL E G H5434511194OMIM:607823Hypotrichosis-Lymphedema-Telangiectasia syndrome.7
HP:0100869HP:0100869Palmar telangiectasia0SOX18 CL E G H5434511194ORPHA:69735Hypotrichosis-lymphedema-telangiectasia-renal defect syndromeHP:0040281 - Very frequent7
HP:0100869HP:0100869Palmar telangiectasia0TCF4 CL E G H692511634ORPHA:171Primary sclerosing cholangitisHP:0040282 - Frequent241


Genes (7) :ACVRL1 GPR35 LBR MST1 SEMA4D SOX18 TCF4

Diseases (5) :OMIM:600376 ORPHA:171 OMIM:613471 OMIM:607823 ORPHA:69735
 

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