Human Phenotype Ontology 
Grandparent Node:
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Abnormal rib morphology (HP:0000772)help
Parent Node:
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Abnormal sternum morphology (HP:0000766)help
Parent Node:
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Abnormality of the costochondral junction (HP:0000919)help
..Starting node
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Rachitic rosary (HP:0000897)help
Term ID: 897
Name: Rachitic rosary
Synonym:
Definition: A row of beadlike prominences at the junction of a rib and its cartilage (i.e., enlarged costochondral joints), resembling a rosary.
Comments:
Reference: HP:0000897
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandBulging of the costochondral junction (HP:0000893) help
..expandCostochondral joint sclerosis (HP:0006623) help
..expandCostochondral pain (HP:0006649) help
..expandEnlargement of the costochondral junction (HP:0000920) help
..expandIrregular chondrocostal junctions (HP:0006606) help
..expandPrecocious costochondral ossification (HP:0006607) help
..expandProgressive calcification of costochondral cartilage (HP:0006600) help
..expandWide-cupped costochondral junctions (HP:0000910) 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:0000897HP:0000897Rachitic rosary0ALPL CL E G H249438OMIM:241510Hypophosphatasia, childhood.126
HP:0000897HP:0000897Rachitic rosary0ALPL CL E G H249438OMIM:241500Hypophosphatasia, infantile.126
HP:0000897HP:0000897Rachitic rosary0CTNS CL E G H14972518OMIM:219800Cystinosis, nephropathic.178
HP:0000897HP:0000897Rachitic rosary0CYP27B1 CL E G H15942606ORPHA:289157Hypocalcemic vitamin D-dependent ricketsHP:0040281 - Very frequent41
HP:0000897HP:0000897Rachitic rosary0CYP2R1 CL E G H12022720580ORPHA:289157Hypocalcemic vitamin D-dependent ricketsHP:0040281 - Very frequent5
HP:0000897HP:0000897Rachitic rosary0PHEX CL E G H52518918ORPHA:89936X-linked hypophosphatemiaHP:0040282 - Frequent217
HP:0000897HP:0000897Rachitic rosary0SLC34A1 CL E G H656911019ORPHA:157215Hereditary hypophosphatemic rickets with hypercalciuriaHP:0040283 - Occasional47
HP:0000897HP:0000897Rachitic rosary0SLC34A3 CL E G H14268020305ORPHA:157215Hereditary hypophosphatemic rickets with hypercalciuriaHP:0040283 - Occasional52


Genes (7) :ALPL CTNS CYP27B1 CYP2R1 PHEX SLC34A1 SLC34A3

Diseases (6) :OMIM:241510 OMIM:241500 OMIM:219800 ORPHA:289157 ORPHA:89936 ORPHA:157215
 

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