Human Phenotype
Ontology
Grandparent Node: Localized skin lesion (HP:0011355) Parent Node: Abnormal tendon morphology (HP:0100261) Parent Node: Xanthomatosis (HP:0000991) ..Starting node Tendon xanthomatosis (HP:0010874)
Term ID: 10874
Name: Tendon xanthomatosis
Synonym: Tendon xanthomas
Definition: The presence of xanthomas (intra-and extra-cellular accumulations of cholesterol) extensor tendons (typically over knuckles, Achilles tendon, knee, and elbows).
Comments:
Reference: HP:0010874
Genes and Diseases: Child Nodes: Sister Nodes: ..Atheroeruptive xanthoma (HP:0001039) ..Eruptive xanthomas (HP:0001013) ..Tuberous xanthoma (HP:0031290) ..Verruciform xanthoma (HP:0031517) ..Xanthelasma (HP:0001114) ..Xanthomas of the palmar creases (HP:0025530) Input HPO ID HPO term Distance Gene Gene id entrez HGNC ID DiseaseId DiseaseName Frequency Onset HGMD variants ClinVar variants HP:0010874 HP:0010874 Tendon xanthomatosis 0 ABCG5 CL E G H 64240 13886 ORPHA:391665 Homozygous familial hypercholesterolemia HP:0040283 - Occasional 67 HP:0010874 HP:0010874 Tendon xanthomatosis 0 ABCG5 CL E G H 64240 13886 OMIM:618666 SITOSTEROLEMIA 2; STSL2 67 HP:0010874 HP:0010874 Tendon xanthomatosis 0 ABCG8 CL E G H 64241 13887 ORPHA:391665 Homozygous familial hypercholesterolemia HP:0040283 - Occasional 76 HP:0010874 HP:0010874 Tendon xanthomatosis 0 APOA1 CL E G H 335 600 OMIM:618463 HYPOALPHALIPOPROTEINEMIA, PRIMARY, 2 40 HP:0010874 HP:0010874 Tendon xanthomatosis 0 APOA2 CL E G H 336 601 OMIM:143890 Hypercholesterolemia, familial, 1 9 HP:0010874 HP:0010874 Tendon xanthomatosis 0 APOB CL E G H 338 603 ORPHA:391665 Homozygous familial hypercholesterolemia HP:0040283 - Occasional 356 HP:0010874 HP:0010874 Tendon xanthomatosis 0 APOE CL E G H 348 613 ORPHA:412 Dysbetalipoproteinemia HP:0040282 - Frequent 39 HP:0010874 HP:0010874 Tendon xanthomatosis 0 CYP27A1 CL E G H 1593 2605 OMIM:213700 Cerebrotendinous xanthomatosis 114 HP:0010874 HP:0010874 Tendon xanthomatosis 0 CYP27A1 CL E G H 1593 2605 ORPHA:909 Cerebrotendinous xanthomatosis HP:0040282 - Frequent 114 HP:0010874 HP:0010874 Tendon xanthomatosis 0 EPHX2 CL E G H 2053 3402 OMIM:143890 Hypercholesterolemia, familial, 1 1 HP:0010874 HP:0010874 Tendon xanthomatosis 0 GHR CL E G H 2690 4263 OMIM:143890 Hypercholesterolemia, familial, 1 98 HP:0010874 HP:0010874 Tendon xanthomatosis 0 LDLR CL E G H 3949 6547 ORPHA:391665 Homozygous familial hypercholesterolemia HP:0040283 - Occasional 2157 HP:0010874 HP:0010874 Tendon xanthomatosis 0 LDLR CL E G H 3949 6547 OMIM:143890 Hypercholesterolemia, familial, 1 2157 HP:0010874 HP:0010874 Tendon xanthomatosis 0 LDLRAP1 CL E G H 26119 18640 ORPHA:391665 Homozygous familial hypercholesterolemia HP:0040283 - Occasional 73 HP:0010874 HP:0010874 Tendon xanthomatosis 0 LDLRAP1 CL E G H 26119 18640 OMIM:603813 Hypercholesterolemia, autosomal recessive . 73 HP:0010874 HP:0010874 Tendon xanthomatosis 0 PCSK9 CL E G H 255738 20001 ORPHA:391665 Homozygous familial hypercholesterolemia HP:0040283 - Occasional 178 HP:0010874 HP:0010874 Tendon xanthomatosis 0 PCSK9 CL E G H 255738 20001 OMIM:603776 HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3; HCHOLA3 178 HP:0010874 HP:0010874 Tendon xanthomatosis 0 PPP1R17 CL E G H 10842 16973 OMIM:143890 Hypercholesterolemia, familial, 1 2 HP:0010874 HP:0010874 Tendon xanthomatosis 0 TTPA CL E G H 7274 12404 OMIM:277460 VITAMIN E, FAMILIAL ISOLATED DEFICIENCY OF . 62
Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.
