Human Phenotype Ontology 
Grandparent Node:
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Abnormal macrophage morphology (HP:0004311)help
Parent Node:
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Abnormal macrophage count (HP:0030326)help
..Starting node
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Abnormal osteoclast count (HP:0030327)help
Term ID: 30327
Name: Abnormal osteoclast count
Synonym:
Definition: An anomaly in the number of osteoclasts in bone tissue, bone-resorbing cells that develop from macrophages. This finding can be observed by histological examination of bone tissue.
Comments:
Reference: HP:0030327
Genes and Diseases:
 
       Child Nodes:
........expandDecreased osteoclast count (HP:0030328) help

 Sister Nodes: 
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0030327HP:0030327Abnormal osteoclast count0OSTM1 CL E G H2896221652OMIM:259720Osteopetrosis, autosomal recessive 573
HP:0030327HP:0030327Abnormal osteoclast count0TNFSF11 CL E G H860011926OMIM:259710Osteopetrosis, autosomal recessive 244
HP:0030327HP:0030328Decreased osteoclast count1OSTM1 CL E G H2896221652OMIM:259720Osteopetrosis, autosomal recessive 5.73
HP:0030327HP:0030328Decreased osteoclast count1TNFSF11 CL E G H860011926OMIM:259710Osteopetrosis, autosomal recessive 244


Genes (2) :OSTM1 TNFSF11

Diseases (2) :OMIM:259720 OMIM:259710
 

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