Human Phenotype Ontology 
Grandparent Node:
expandAbnormal bone structure (HP:0003330)help
Parent Node:
expandBone cyst (HP:0012062)help
..Starting node
..expandCystic angiomatosis of bone (HP:0002833)help
Term ID: 2833
Name: Cystic angiomatosis of bone
Synonym: Lytic cystic lesions in appendicular bones
Definition: Disseminated multifocal hemangiomatous or lymphangiomatous lesions of the skeleton. The lesions are lytic, well-defined, round or oval lesions within the medullary cavity, and they have an intact cortex, and manifest variable peripheral sclerosis and may exhibit endosteal scalloping.
Comments:
Reference: HP:0002833
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAneurysmal bone cyst (HP:0012063) help
..expandMultiple bony cystic lesions (HP:0012065) help
..expandUnicameral bone cyst (HP:0012064) 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:0002833HP:0002833Cystic angiomatosis of bone0AGPAT2 CL E G H10555325OMIM:608594Lipodystrophy, congenital generalized, type 1.85
HP:0002833HP:0002833Cystic angiomatosis of bone0BSCL2 CL E G H2658015832OMIM:269700Lipodystrophy, congenital generalized, type 2.105


Genes (2) :AGPAT2 BSCL2

Diseases (2) :OMIM:608594 OMIM:269700
 

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