Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0003165	HP:0003165	Elevated circulating parathyroid hormone level	0	CASR CL E G H	846	1514	OMIM:239200	Hyperparathyroidism, neonatal severe	.	272
HP:0003165	HP:0003165	Elevated circulating parathyroid hormone level	0	CDC73 CL E G H	79577	16783	ORPHA:99879	Familial isolated hyperparathyroidism	HP:0040281 - Very frequent	169
HP:0003165	HP:0003165	Elevated circulating parathyroid hormone level	0	CDC73 CL E G H	79577	16783	ORPHA:99880	Hyperparathyroidism-jaw tumor syndrome	HP:0040281 - Very frequent	169
HP:0003165	HP:0003165	Elevated circulating parathyroid hormone level	0	CDC73 CL E G H	79577	16783	ORPHA:143	Parathyroid carcinoma	HP:0040281 - Very frequent	169
HP:0003165	HP:0003165	Elevated circulating parathyroid hormone level	0	CDKN1B CL E G H	1027	1785	ORPHA:276152	Multiple endocrine neoplasia type 4	HP:0040281 - Very frequent	102
HP:0003165	HP:0003165	Elevated circulating parathyroid hormone level	0	CLDN16 CL E G H	10686	2037	OMIM:248250	Hypomagnesemia 3, renal		58
HP:0003165	HP:0003165	Elevated circulating parathyroid hormone level	0	CYP27B1 CL E G H	1594	2606	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets	HP:0040281 - Very frequent	41
HP:0003165	HP:0003165	Elevated circulating parathyroid hormone level	0	CYP27B1 CL E G H	1594	2606	OMIM:264700	Vitamin D hydroxylation-deficient rickets, type 1A	.	41
HP:0003165	HP:0003165	Elevated circulating parathyroid hormone level	0	CYP2R1 CL E G H	120227	20580	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets	HP:0040281 - Very frequent	5
HP:0003165	HP:0003165	Elevated circulating parathyroid hormone level	0	CYP3A4 CL E G H	1576	2637	OMIM:619073	VITAMIN D-DEPENDENT RICKETS, TYPE 3; VDDR3		2
HP:0003165	HP:0003165	Elevated circulating parathyroid hormone level	0	GCM2 CL E G H	9247	4198	ORPHA:99879	Familial isolated hyperparathyroidism	HP:0040281 - Very frequent	51
HP:0003165	HP:0003165	Elevated circulating parathyroid hormone level	0	GNAS CL E G H	2778	4392	ORPHA:79443	Pseudohypoparathyroidism type 1A	HP:0040281 - Very frequent	101
HP:0003165	HP:0003165	Elevated circulating parathyroid hormone level	0	GNAS CL E G H	2778	4392	ORPHA:94089	Pseudohypoparathyroidism type 1B	HP:0040281 - Very frequent	101
HP:0003165	HP:0003165	Elevated circulating parathyroid hormone level	0	GNAS CL E G H	2778	4392	ORPHA:79444	Pseudohypoparathyroidism type 1C	HP:0040281 - Very frequent	101
HP:0003165	HP:0003165	Elevated circulating parathyroid hormone level	0	GNAS CL E G H	2778	4392	OMIM:103580	Pseudohypoparathyroidism, type IA	.	101
HP:0003165	HP:0003165	Elevated circulating parathyroid hormone level	0	GNAS CL E G H	2778	4392	OMIM:603233	Pseudohypoparathyroidism, type IB	.	101
HP:0003165	HP:0003165	Elevated circulating parathyroid hormone level	0	GNAS CL E G H	2778	4392	OMIM:612462	Pseudohypoparathyroidism, type IC	.	101
HP:0003165	HP:0003165	Elevated circulating parathyroid hormone level	0	GNAS-AS1 CL E G H	149775	24872	OMIM:603233	Pseudohypoparathyroidism, type IB	.	1
HP:0003165	HP:0003165	Elevated circulating parathyroid hormone level	0	KL CL E G H	9365	6344	OMIM:617994	TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 3; HFTC3		68
HP:0003165	HP:0003165	Elevated circulating parathyroid hormone level	0	MEN1 CL E G H	4221	7010	ORPHA:99879	Familial isolated hyperparathyroidism	HP:0040281 - Very frequent	462
HP:0003165	HP:0003165	Elevated circulating parathyroid hormone level	0	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome	HP:0040283 - Occasional	1952
HP:0003165	HP:0003165	Elevated circulating parathyroid hormone level	0	PDE4D CL E G H	5144	8783	ORPHA:280651	Acrodysostosis with multiple hormone resistance	HP:0040281 - Very frequent	113
HP:0003165	HP:0003165	Elevated circulating parathyroid hormone level	0	PDE4D CL E G H	5144	8783	ORPHA:439822	PDE4D haploinsufficiency syndrome	HP:0040283 - Occasional	113
HP:0003165	HP:0003165	Elevated circulating parathyroid hormone level	0	PHEX CL E G H	5251	8918	OMIM:307800	Hypophosphatemic rickets, X-linked dominant	.	217
HP:0003165	HP:0003165	Elevated circulating parathyroid hormone level	0	PRKAR1A CL E G H	5573	9388	OMIM:101800	Acrodysostosis 1, with or without hormone resistance		134
HP:0003165	HP:0003165	Elevated circulating parathyroid hormone level	0	PRKAR1A CL E G H	5573	9388	ORPHA:280651	Acrodysostosis with multiple hormone resistance	HP:0040281 - Very frequent	134
HP:0003165	HP:0003165	Elevated circulating parathyroid hormone level	0	SOST CL E G H	50964	13771	OMIM:122860	Craniodiaphyseal dysplasia, autosomal dominant	.	26
HP:0003165	HP:0003165	Elevated circulating parathyroid hormone level	0	STX16 CL E G H	8675	11431	ORPHA:94089	Pseudohypoparathyroidism type 1B	HP:0040281 - Very frequent	86
HP:0003165	HP:0003165	Elevated circulating parathyroid hormone level	0	STX16 CL E G H	8675	11431	OMIM:603233	Pseudohypoparathyroidism, type IB	.	86
HP:0003165	HP:0003165	Elevated circulating parathyroid hormone level	0	VDR CL E G H	7421	12679	OMIM:277440	Vitamin d-dependent rickets, type 2A	.	104