Human Phenotype Ontology 
Grandparent Node:
expandSkin nodule (HP:0200036)help
Parent Node:
expandSubcutaneous nodule (HP:0001482)help
..Starting node
..expandSubcutaneous spheroids (HP:0025014)help
Term ID: 25014
Name: Subcutaneous spheroids
Synonym:
Definition: Small, hard cyst-like nodules, freely moveable in the subcutis over the bony prominences of the legs and arms, which have an outer calcified layer with a translucent core on x-ray.
Comments:
Reference: HP:0025014
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandPeriarticular subcutaneous nodules (HP:0007470) 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:0025014HP:0025014Subcutaneous spheroids0COL1A1 CL E G H12772197ORPHA:287Classical Ehlers-Danlos syndromeHP:0040283 - Occasional373
HP:0025014HP:0025014Subcutaneous spheroids0COL5A1 CL E G H12892209ORPHA:287Classical Ehlers-Danlos syndromeHP:0040283 - Occasional660
HP:0025014HP:0025014Subcutaneous spheroids0COL5A1 CL E G H12892209OMIM:130000Ehlers-danlos syndrome, type I660
HP:0025014HP:0025014Subcutaneous spheroids0COL5A2 CL E G H12902210ORPHA:287Classical Ehlers-Danlos syndromeHP:0040283 - Occasional325
HP:0025014HP:0025014Subcutaneous spheroids0COL5A2 CL E G H12902210OMIM:130010Ehlers-Danlos syndrome, classic type, 2325


Genes (3) :COL1A1 COL5A1 COL5A2

Diseases (3) :ORPHA:287 OMIM:130000 OMIM:130010
 

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