Human Phenotype Ontology 
Grandparent Node:
expandAvascular necrosis (HP:0010885)help
Parent Node:
expandAbnormal vertebral morphology (HP:0003468)help
Parent Node:
expandJuvenile aseptic necrosis (HP:0100323)help
..Starting node
..expandMorbus Scheuermann (HP:0010891)help
Term ID: 10891
Name: Morbus Scheuermann
Synonym: Calve disease; Juvenile osteochondrosis of the spine; Scheuermann disease; Scheuermann kyphosis; Sherman's Disease
Definition: A developmental growth retardation of the vertebral end plates that may lead to secondary destruction of the vertebral end plates and protrusion of the nucleus pulposus into the vertebral body (so called Schmorl's nodes as seen on x-rays).
Comments:
Reference: HP:0010891
Genes and Diseases:
 
       Child Nodes:
........expandScheuermann-like vertebral changes (HP:0008478) help

 Sister Nodes: 
..expandAvascular necrosis of the capital femoral epiphysis (HP:0005743) help
..expandMorbus Kienboeck (HP:0010889) help
..expandMorbus Koehler (HP:0010888) help
..expandMorbus Osgood-Schlatter (HP:0010890) help
..expandOsteochondrosis (HP:0040188) 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:0010891HP:0010891Morbus Scheuermann0COL2A1 CL E G H12802200OMIM:108300Stickler syndrome, type I284
HP:0010891HP:0010891Morbus Scheuermann0PHF6 CL E G H8429518145OMIM:301900Borjeson-Forssman-Lehmann syndrome29
HP:0010891HP:0008478Scheuermann-like vertebral changes1PHF6 CL E G H8429518145OMIM:301900Borjeson-Forssman-Lehmann syndrome.29


Genes (2) :COL2A1 PHF6

Diseases (2) :OMIM:108300 OMIM:301900
 

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