GenTIGSA Gene Database on Rare Genetic Disorders
Neonatal Severe Primary Hyperparathyroidism  
Disease Aliases (9)

Casr-related disorders

Hyperparathyroidism, neonatal severe primary

Nhpt

Nshpt

Nsph

Neonatal severe hyperparathyroidism

Hyperparathyroidism, neonatal severe

Hyperparathyroidism, neonatal severe; nshpt

Neonatal severe primary hyperparathyroidism

Associated Genes (2)
 

NCBI-RefSeq:  CASR   (Calcium sensing receptor)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  TRPV6   (Transient receptor potential cation channel subfamily V member 6)

External Links:  gnomAD browser   Ensembl   GeneCards

 


Cross-references of Neonatal severe primary hyperparathyroidism OMIM GARD Orphanet NCBI-GTR NCBI-MedGen MalaCards      MeSH Annotations