Human Phenotype Ontology 
Grandparent Node:
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Abnormal skeletal morphology (HP:0011842)help
Parent Node:
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Abnormal bone structure (HP:0003330)help
..Starting node
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Fibrous dysplasia of the bones (HP:0010734)help
Term ID: 10734
Name: Fibrous dysplasia of the bones
Synonym:
Definition: Tumor-like growths that consist of replacement of the medullary bone with fibrous tissue, causing the expansion and weakening of the areas of bone involved. Especially when involving the skull or facial bones, the lesions can cause externally visible deformities. The skull is often, but not necessarily, affected, and any other bone or bones may be involved. Fibrous dysplasia can either effect isolated bones (Monostotic fibrous dysplasia) or also generalized all bones of the body (Polyostotic fibrous dysplasia).
Comments:
Reference: HP:0010734
Genes and Diseases:
 
       Child Nodes:
........expandPolyostotic fibrous dysplasia (HP:0010735) help
........expandMonostotic fibrous dysplasia (HP:0010736) help

 Sister Nodes: 
..expandAbnormal bone collagen fibril morphology (HP:0011862) help
..expandAbnormal bone ossification (HP:0011849) help
..expandAbnormal cortical bone morphology (HP:0003103) help
..expandAbnormal periosteum morphology (HP:0030313) help
..expandAbnormal trabecular bone morphology (HP:0100671) help
..expandBone cyst (HP:0012062) help
..expandConstricted radius (HP:0003976) help
..expandDysplastic patella (HP:0006446) help
..expandFractured forearm bones (HP:0003961) help
..expandOsteolysis (HP:0002797) help
..expandRadial dysplasia (HP:0006433) 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:0010734HP:0010734Fibrous dysplasia of the bones0GNAS CL E G H27784392ORPHA:57782Mazabraud syndromeHP:0040281 - Very frequent101
HP:0010734HP:0010734Fibrous dysplasia of the bones0GNAS CL E G H27784392ORPHA:562McCune-Albright syndromeHP:0040282 - Frequent101
HP:0010734HP:0010734Fibrous dysplasia of the bones0GNAS CL E G H27784392OMIM:174800McCune-Albright syndrome, somatic, mosaic101
HP:0010734HP:0010736Monostotic fibrous dysplasia1GNAS CL E G H27784392ORPHA:562McCune-Albright syndromeHP:0040282 - Frequent101
HP:0010734HP:0010735Polyostotic fibrous dysplasia1GNAS CL E G H27784392ORPHA:562McCune-Albright syndromeHP:0040283 - Occasional101
HP:0010734HP:0010735Polyostotic fibrous dysplasia1GNAS CL E G H27784392OMIM:174800McCune-Albright syndrome, somatic, mosaic.101


Genes (1) :GNAS

Diseases (3) :ORPHA:57782 ORPHA:562 OMIM:174800
 

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