Previous symbols: PTHR, PTHR1.
Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.
| Disorder | Relationship | Where the gene appears |
|---|---|---|
| Chondrodysplasia Blomstrand Type | causative germline loss of function |
mechanism: Biallelic PTH1R Loss-of-Function
animal model: PTH/PTHrP receptor null mouse
|
| Eiken Syndrome | causative germline |
mechanism: Biallelic PTH1R Signaling Alteration
|
| Metaphyseal Chondrodysplasia, Jansen Type | causative de novo gain of function |
mechanism: Constitutively Active PTH1R
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.