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PTH1R

parathyroid hormone 1 receptor

HCNC Approved Symbol
PTH1R (HGNC:9608)
Genomic Coordinates
3:46,877,721 - 46,903,799 (3p21.31)
Synonyms
PTHR, PTHR1
Disease Associations
This gene is associated with the following 4 diseases in OMIM.
View More Disease Info
Disease NameOMIM IDInheritance
Chondrodysplasia, Blomstrand type
215045AR
Eiken syndrome
600002AR
Failure of tooth eruption, primary
125350AD
Metaphyseal chondrodysplasia, Murk Jansen type
156400AD

Diagnosed Cases

0Patient

There are no patients diagnosed with a variant in the PTH1R gene.

Frequently observed phenotypes

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

No Results