Human Phenotype Ontology 
Grandparent Node:
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Osteoporosis (HP:0000939)help
Parent Node:
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Abnormal vertebral morphology (HP:0003468)help
Parent Node:
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Localized osteoporosis (HP:0040161)help
..Starting node
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Osteoporosis of vertebrae (HP:0005625)help
Term ID: 5625
Name: Osteoporosis of vertebrae
Synonym:
Definition: Osteoporosis affecting predominantly the vertebrae.
Comments:
Reference: HP:0005625
Genes and Diseases:
 
       Child Nodes:

 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:0005625HP:0005625Osteoporosis of vertebrae0BMP15 CL E G H92101068ORPHA:24346,XX gonadal dysgenesisHP:0040282 - Frequent16
HP:0005625HP:0005625Osteoporosis of vertebrae0BNC1 CL E G H6461081ORPHA:24346,XX gonadal dysgenesisHP:0040282 - Frequent
HP:0005625HP:0005625Osteoporosis of vertebrae0FOXA2 CL E G H31705022ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040283 - Occasional
HP:0005625HP:0005625Osteoporosis of vertebrae0FSHR CL E G H24923969ORPHA:24346,XX gonadal dysgenesisHP:0040282 - Frequent50
HP:0005625HP:0005625Osteoporosis of vertebrae0GLI2 CL E G H27364318ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040283 - Occasional173
HP:0005625HP:0005625Osteoporosis of vertebrae0HESX1 CL E G H88204877ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040283 - Occasional21
HP:0005625HP:0005625Osteoporosis of vertebrae0LHX4 CL E G H8988421734ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040283 - Occasional43
HP:0005625HP:0005625Osteoporosis of vertebrae0MRPS22 CL E G H5694514508ORPHA:24346,XX gonadal dysgenesisHP:0040282 - Frequent25
HP:0005625HP:0005625Osteoporosis of vertebrae0NR5A1 CL E G H25167983ORPHA:24346,XX gonadal dysgenesisHP:0040282 - Frequent38
HP:0005625HP:0005625Osteoporosis of vertebrae0NUP107 CL E G H5712229914ORPHA:24346,XX gonadal dysgenesisHP:0040282 - Frequent5
HP:0005625HP:0005625Osteoporosis of vertebrae0OTX2 CL E G H50158522ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040283 - Occasional41
HP:0005625HP:0005625Osteoporosis of vertebrae0POLR3H CL E G H17156830349ORPHA:24346,XX gonadal dysgenesisHP:0040282 - Frequent
HP:0005625HP:0005625Osteoporosis of vertebrae0POU1F1 CL E G H54499210ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040283 - Occasional36
HP:0005625HP:0005625Osteoporosis of vertebrae0PROP1 CL E G H56269455ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040283 - Occasional54
HP:0005625HP:0005625Osteoporosis of vertebrae0PROP1 CL E G H56269455ORPHA:90695Non-acquired panhypopituitarismHP:0040283 - Occasional54
HP:0005625HP:0005625Osteoporosis of vertebrae0PSMC3IP CL E G H2989317928ORPHA:24346,XX gonadal dysgenesisHP:0040282 - Frequent2
HP:0005625HP:0005625Osteoporosis of vertebrae0RUNX2 CL E G H86010472OMIM:156510Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly.90
HP:0005625HP:0005625Osteoporosis of vertebrae0SOX3 CL E G H665811199ORPHA:90695Non-acquired panhypopituitarismHP:0040283 - Occasional24
HP:0005625HP:0005625Osteoporosis of vertebrae0SPIDR CL E G H2351428971ORPHA:24346,XX gonadal dysgenesisHP:0040282 - Frequent2
HP:0005625HP:0005625Osteoporosis of vertebrae0ZSWIM7 CL E G H12515026993ORPHA:24346,XX gonadal dysgenesisHP:0040282 - Frequent


Genes (19) :BMP15 BNC1 FOXA2 FSHR GLI2 HESX1 LHX4 MRPS22 NR5A1 NUP107 OTX2 POLR3H POU1F1 PROP1 PSMC3IP RUNX2 SOX3 SPIDR ZSWIM7

Diseases (4) :ORPHA:243 ORPHA:95494 ORPHA:90695 OMIM:156510
 

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