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:0100530	HP:0100530	Abnormal calcium-phosphate regulating hormone level	0	ADORA2A CL E G H	135	263	ORPHA:363549	Acute encephalopathy with biphasic seizures and late reduced diffusion		1
HP:0100530	HP:0100530	Abnormal calcium-phosphate regulating hormone level	0	AIRE CL E G H	326	360	OMIM:240300	AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1		92
HP:0100530	HP:0100530	Abnormal calcium-phosphate regulating hormone level	0	AIRE CL E G H	326	360	ORPHA:3453	Autoimmune polyendocrinopathy type 1	HP:0040281 - Very frequent	92
HP:0100530	HP:0100530	Abnormal calcium-phosphate regulating hormone level	0	CASR CL E G H	846	1514	OMIM:239200	Hyperparathyroidism, neonatal severe		272
HP:0100530	HP:0100530	Abnormal calcium-phosphate regulating hormone level	0	CASR CL E G H	846	1514	OMIM:601198	Hypocalcemia, autosomal dominant 1		272
HP:0100530	HP:0100530	Abnormal calcium-phosphate regulating hormone level	0	CASR CL E G H	846	1514	ORPHA:417	Neonatal severe primary hyperparathyroidism	HP:0040281 - Very frequent	272
HP:0100530	HP:0100530	Abnormal calcium-phosphate regulating hormone level	0	CDC73 CL E G H	79577	16783	ORPHA:99879	Familial isolated hyperparathyroidism		169
HP:0100530	HP:0100530	Abnormal calcium-phosphate regulating hormone level	0	CDC73 CL E G H	79577	16783	ORPHA:99880	Hyperparathyroidism-jaw tumor syndrome		169
HP:0100530	HP:0100530	Abnormal calcium-phosphate regulating hormone level	0	CDC73 CL E G H	79577	16783	ORPHA:143	Parathyroid carcinoma		169
HP:0100530	HP:0100530	Abnormal calcium-phosphate regulating hormone level	0	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1		2
HP:0100530	HP:0100530	Abnormal calcium-phosphate regulating hormone level	0	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1		102
HP:0100530	HP:0100530	Abnormal calcium-phosphate regulating hormone level	0	CDKN1B CL E G H	1027	1785	ORPHA:276152	Multiple endocrine neoplasia type 4		102
HP:0100530	HP:0100530	Abnormal calcium-phosphate regulating hormone level	0	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1		1
HP:0100530	HP:0100530	Abnormal calcium-phosphate regulating hormone level	0	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1
HP:0100530	HP:0100530	Abnormal calcium-phosphate regulating hormone level	0	CLDN16 CL E G H	10686	2037	OMIM:248250	Hypomagnesemia 3, renal		58
HP:0100530	HP:0100530	Abnormal calcium-phosphate regulating hormone level	0	CLDN19 CL E G H	149461	2040	ORPHA:2196	Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement	HP:0040281 - Very frequent	42
HP:0100530	HP:0100530	Abnormal calcium-phosphate regulating hormone level	0	CYP27B1 CL E G H	1594	2606	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets		41
HP:0100530	HP:0100530	Abnormal calcium-phosphate regulating hormone level	0	CYP27B1 CL E G H	1594	2606	OMIM:264700	Vitamin D hydroxylation-deficient rickets, type 1A		41
HP:0100530	HP:0100530	Abnormal calcium-phosphate regulating hormone level	0	CYP2R1 CL E G H	120227	20580	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets		5
HP:0100530	HP:0100530	Abnormal calcium-phosphate regulating hormone level	0	CYP3A4 CL E G H	1576	2637	OMIM:619073	VITAMIN D-DEPENDENT RICKETS, TYPE 3; VDDR3		2
HP:0100530	HP:0100530	Abnormal calcium-phosphate regulating hormone level	0	DLST CL E G H	1743	2911	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma
HP:0100530	HP:0100530	Abnormal calcium-phosphate regulating hormone level	0	FAM20A CL E G H	54757	23015	ORPHA:1031	Enamel-renal syndrome	HP:0040281 - Very frequent	16
HP:0100530	HP:0100530	Abnormal calcium-phosphate regulating hormone level	0	FH CL E G H	2271	3700	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		301
HP:0100530	HP:0100530	Abnormal calcium-phosphate regulating hormone level	0	GCM2 CL E G H	9247	4198	ORPHA:99879	Familial isolated hyperparathyroidism		51
HP:0100530	HP:0100530	Abnormal calcium-phosphate regulating hormone level	0	GCM2 CL E G H	9247	4198	OMIM:618883	HYPOPARATHYROIDISM, FAMILIAL ISOLATED, 2; FIH2		51
HP:0100530	HP:0100530	Abnormal calcium-phosphate regulating hormone level	0	GNAS CL E G H	2778	4392	ORPHA:79443	Pseudohypoparathyroidism type 1A		101
HP:0100530	HP:0100530	Abnormal calcium-phosphate regulating hormone level	0	GNAS CL E G H	2778	4392	ORPHA:94089	Pseudohypoparathyroidism type 1B		101
HP:0100530	HP:0100530	Abnormal calcium-phosphate regulating hormone level	0	GNAS CL E G H	2778	4392	ORPHA:79444	Pseudohypoparathyroidism type 1C		101
HP:0100530	HP:0100530	Abnormal calcium-phosphate regulating hormone level	0	GNAS CL E G H	2778	4392	OMIM:103580	Pseudohypoparathyroidism, type IA		101
HP:0100530	HP:0100530	Abnormal calcium-phosphate regulating hormone level	0	GNAS CL E G H	2778	4392	OMIM:603233	Pseudohypoparathyroidism, type IB		101
HP:0100530	HP:0100530	Abnormal calcium-phosphate regulating hormone level	0	GNAS CL E G H	2778	4392	OMIM:612462	Pseudohypoparathyroidism, type IC		101
HP:0100530	HP:0100530	Abnormal calcium-phosphate regulating hormone level	0	GNAS-AS1 CL E G H	149775	24872	OMIM:603233	Pseudohypoparathyroidism, type IB		1
HP:0100530	HP:0100530	Abnormal calcium-phosphate regulating hormone level	0	KIF1B CL E G H	23095	16636	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		202
HP:0100530	HP:0100530	Abnormal calcium-phosphate regulating hormone level	0	KL CL E G H	9365	6344	OMIM:617994	TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 3; HFTC3		68
HP:0100530	HP:0100530	Abnormal calcium-phosphate regulating hormone level	0	MAX CL E G H	4149	6913	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		84
HP:0100530	HP:0100530	Abnormal calcium-phosphate regulating hormone level	0	MDH2 CL E G H	4191	6971	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		4
HP:0100530	HP:0100530	Abnormal calcium-phosphate regulating hormone level	0	MEN1 CL E G H	4221	7010	ORPHA:99879	Familial isolated hyperparathyroidism		462
HP:0100530	HP:0100530	Abnormal calcium-phosphate regulating hormone level	0	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1		462
HP:0100530	HP:0100530	Abnormal calcium-phosphate regulating hormone level	0	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome		1952
HP:0100530	HP:0100530	Abnormal calcium-phosphate regulating hormone level	0	NF1 CL E G H	4763	7765	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		1952
HP:0100530	HP:0100530	Abnormal calcium-phosphate regulating hormone level	0	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe	HP:0040282 - Frequent	88
HP:0100530	HP:0100530	Abnormal calcium-phosphate regulating hormone level	0	PDE4D CL E G H	5144	8783	ORPHA:280651	Acrodysostosis with multiple hormone resistance		113
HP:0100530	HP:0100530	Abnormal calcium-phosphate regulating hormone level	0	PDE4D CL E G H	5144	8783	ORPHA:439822	PDE4D haploinsufficiency syndrome		113
HP:0100530	HP:0100530	Abnormal calcium-phosphate regulating hormone level	0	PHEX CL E G H	5251	8918	OMIM:307800	Hypophosphatemic rickets, X-linked dominant		217
HP:0100530	HP:0100530	Abnormal calcium-phosphate regulating hormone level	0	PRKAR1A CL E G H	5573	9388	OMIM:101800	Acrodysostosis 1, with or without hormone resistance		134
HP:0100530	HP:0100530	Abnormal calcium-phosphate regulating hormone level	0	PRKAR1A CL E G H	5573	9388	ORPHA:280651	Acrodysostosis with multiple hormone resistance		134
HP:0100530	HP:0100530	Abnormal calcium-phosphate regulating hormone level	0	PTH CL E G H	5741	9606	OMIM:146200	Hypoparathyroidism, familial isolated		16
HP:0100530	HP:0100530	Abnormal calcium-phosphate regulating hormone level	0	RET CL E G H	5979	9967	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		572
HP:0100530	HP:0100530	Abnormal calcium-phosphate regulating hormone level	0	RET CL E G H	5979	9967	OMIM:171400	Multiple endocrine neoplasia, type IIA		572
HP:0100530	HP:0100530	Abnormal calcium-phosphate regulating hormone level	0	RET CL E G H	5979	9967	OMIM:162300	Multiple endocrine neoplasia, type IIB		572
HP:0100530	HP:0100530	Abnormal calcium-phosphate regulating hormone level	0	RNU4ATAC CL E G H	100151683	34016	ORPHA:2636	Microcephalic osteodysplastic primordial dwarfism types I and III	HP:0040281 - Very frequent	15
HP:0100530	HP:0100530	Abnormal calcium-phosphate regulating hormone level	0	SDHA CL E G H	6389	10680	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		304
HP:0100530	HP:0100530	Abnormal calcium-phosphate regulating hormone level	0	SDHAF2 CL E G H	54949	26034	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		55
HP:0100530	HP:0100530	Abnormal calcium-phosphate regulating hormone level	0	SDHB CL E G H	6390	10681	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		237
HP:0100530	HP:0100530	Abnormal calcium-phosphate regulating hormone level	0	SDHC CL E G H	6391	10682	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		147
HP:0100530	HP:0100530	Abnormal calcium-phosphate regulating hormone level	0	SDHD CL E G H	6392	10683	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		129
HP:0100530	HP:0100530	Abnormal calcium-phosphate regulating hormone level	0	SLC25A11 CL E G H	8402	10981	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma
HP:0100530	HP:0100530	Abnormal calcium-phosphate regulating hormone level	0	SLC34A1 CL E G H	6569	11019	ORPHA:157215	Hereditary hypophosphatemic rickets with hypercalciuria		47
HP:0100530	HP:0100530	Abnormal calcium-phosphate regulating hormone level	0	SLC34A3 CL E G H	142680	20305	ORPHA:157215	Hereditary hypophosphatemic rickets with hypercalciuria		52
HP:0100530	HP:0100530	Abnormal calcium-phosphate regulating hormone level	0	SOST CL E G H	50964	13771	OMIM:122860	Craniodiaphyseal dysplasia, autosomal dominant		26
HP:0100530	HP:0100530	Abnormal calcium-phosphate regulating hormone level	0	STX16 CL E G H	8675	11431	ORPHA:94089	Pseudohypoparathyroidism type 1B		86
HP:0100530	HP:0100530	Abnormal calcium-phosphate regulating hormone level	0	STX16 CL E G H	8675	11431	OMIM:603233	Pseudohypoparathyroidism, type IB		86
HP:0100530	HP:0100530	Abnormal calcium-phosphate regulating hormone level	0	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome		32
HP:0100530	HP:0100530	Abnormal calcium-phosphate regulating hormone level	0	TMEM127 CL E G H	55654	26038	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		131
HP:0100530	HP:0100530	Abnormal calcium-phosphate regulating hormone level	0	TRPV6 CL E G H	55503	14006	ORPHA:417	Neonatal severe primary hyperparathyroidism	HP:0040281 - Very frequent	4
HP:0100530	HP:0100530	Abnormal calcium-phosphate regulating hormone level	0	VDR CL E G H	7421	12679	OMIM:277440	Vitamin d-dependent rickets, type 2A		104
HP:0100530	HP:0100530	Abnormal calcium-phosphate regulating hormone level	0	VHL CL E G H	7428	12687	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		490
HP:0100530	HP:0032308	Increased circulating procalcitonin concentration	1	ADORA2A CL E G H	135	263	ORPHA:363549	Acute encephalopathy with biphasic seizures and late reduced diffusion	HP:0040282 - Frequent	1
HP:0100530	HP:0031817	Decreased circulating parathyroid hormone level	1	AIRE CL E G H	326	360	OMIM:240300	AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1		92
HP:0100530	HP:0003165	Elevated circulating parathyroid hormone level	1	CASR CL E G H	846	1514	OMIM:239200	Hyperparathyroidism, neonatal severe	.	272
HP:0100530	HP:0031817	Decreased circulating parathyroid hormone level	1	CASR CL E G H	846	1514	OMIM:601198	Hypocalcemia, autosomal dominant 1		272
HP:0100530	HP:0003165	Elevated circulating parathyroid hormone level	1	CDC73 CL E G H	79577	16783	ORPHA:99879	Familial isolated hyperparathyroidism	HP:0040281 - Very frequent	169
HP:0100530	HP:0003165	Elevated circulating parathyroid hormone level	1	CDC73 CL E G H	79577	16783	ORPHA:99880	Hyperparathyroidism-jaw tumor syndrome	HP:0040281 - Very frequent	169
HP:0100530	HP:0003165	Elevated circulating parathyroid hormone level	1	CDC73 CL E G H	79577	16783	ORPHA:143	Parathyroid carcinoma	HP:0040281 - Very frequent	169
HP:0100530	HP:0003528	Elevated calcitonin	1	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040284 - Very rare	2
HP:0100530	HP:0003528	Elevated calcitonin	1	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040284 - Very rare	102
HP:0100530	HP:0003165	Elevated circulating parathyroid hormone level	1	CDKN1B CL E G H	1027	1785	ORPHA:276152	Multiple endocrine neoplasia type 4	HP:0040281 - Very frequent	102
HP:0100530	HP:0003528	Elevated calcitonin	1	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040284 - Very rare	1
HP:0100530	HP:0003528	Elevated calcitonin	1	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040284 - Very rare
HP:0100530	HP:0003165	Elevated circulating parathyroid hormone level	1	CLDN16 CL E G H	10686	2037	OMIM:248250	Hypomagnesemia 3, renal		58
HP:0100530	HP:0003165	Elevated circulating parathyroid hormone level	1	CYP27B1 CL E G H	1594	2606	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets	HP:0040281 - Very frequent	41
HP:0100530	HP:0003165	Elevated circulating parathyroid hormone level	1	CYP27B1 CL E G H	1594	2606	OMIM:264700	Vitamin D hydroxylation-deficient rickets, type 1A	.	41
HP:0100530	HP:0003165	Elevated circulating parathyroid hormone level	1	CYP2R1 CL E G H	120227	20580	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets	HP:0040281 - Very frequent	5
HP:0100530	HP:0003165	Elevated circulating parathyroid hormone level	1	CYP3A4 CL E G H	1576	2637	OMIM:619073	VITAMIN D-DEPENDENT RICKETS, TYPE 3; VDDR3		2
HP:0100530	HP:0003528	Elevated calcitonin	1	DLST CL E G H	1743	2911	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional
HP:0100530	HP:0003528	Elevated calcitonin	1	FH CL E G H	2271	3700	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	301
HP:0100530	HP:0003165	Elevated circulating parathyroid hormone level	1	GCM2 CL E G H	9247	4198	ORPHA:99879	Familial isolated hyperparathyroidism	HP:0040281 - Very frequent	51
HP:0100530	HP:0031817	Decreased circulating parathyroid hormone level	1	GCM2 CL E G H	9247	4198	OMIM:618883	HYPOPARATHYROIDISM, FAMILIAL ISOLATED, 2; FIH2		51
HP:0100530	HP:0003165	Elevated circulating parathyroid hormone level	1	GNAS CL E G H	2778	4392	ORPHA:79443	Pseudohypoparathyroidism type 1A	HP:0040281 - Very frequent	101
HP:0100530	HP:0003528	Elevated calcitonin	1	GNAS CL E G H	2778	4392	ORPHA:79443	Pseudohypoparathyroidism type 1A	HP:0040284 - Very rare	101
HP:0100530	HP:0003165	Elevated circulating parathyroid hormone level	1	GNAS CL E G H	2778	4392	ORPHA:94089	Pseudohypoparathyroidism type 1B	HP:0040281 - Very frequent	101
HP:0100530	HP:0003165	Elevated circulating parathyroid hormone level	1	GNAS CL E G H	2778	4392	ORPHA:79444	Pseudohypoparathyroidism type 1C	HP:0040281 - Very frequent	101
HP:0100530	HP:0003165	Elevated circulating parathyroid hormone level	1	GNAS CL E G H	2778	4392	OMIM:103580	Pseudohypoparathyroidism, type IA	.	101
HP:0100530	HP:0003165	Elevated circulating parathyroid hormone level	1	GNAS CL E G H	2778	4392	OMIM:603233	Pseudohypoparathyroidism, type IB	.	101
HP:0100530	HP:0003165	Elevated circulating parathyroid hormone level	1	GNAS CL E G H	2778	4392	OMIM:612462	Pseudohypoparathyroidism, type IC	.	101
HP:0100530	HP:0003165	Elevated circulating parathyroid hormone level	1	GNAS-AS1 CL E G H	149775	24872	OMIM:603233	Pseudohypoparathyroidism, type IB	.	1
HP:0100530	HP:0003528	Elevated calcitonin	1	KIF1B CL E G H	23095	16636	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	202
HP:0100530	HP:0003165	Elevated circulating parathyroid hormone level	1	KL CL E G H	9365	6344	OMIM:617994	TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 3; HFTC3		68
HP:0100530	HP:0003528	Elevated calcitonin	1	MAX CL E G H	4149	6913	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	84
HP:0100530	HP:0003528	Elevated calcitonin	1	MDH2 CL E G H	4191	6971	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	4
HP:0100530	HP:0003165	Elevated circulating parathyroid hormone level	1	MEN1 CL E G H	4221	7010	ORPHA:99879	Familial isolated hyperparathyroidism	HP:0040281 - Very frequent	462
HP:0100530	HP:0003528	Elevated calcitonin	1	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040284 - Very rare	462
HP:0100530	HP:0003165	Elevated circulating parathyroid hormone level	1	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome	HP:0040283 - Occasional	1952
HP:0100530	HP:0003528	Elevated calcitonin	1	NF1 CL E G H	4763	7765	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	1952
HP:0100530	HP:0003528	Elevated calcitonin	1	PDE4D CL E G H	5144	8783	ORPHA:280651	Acrodysostosis with multiple hormone resistance	HP:0040281 - Very frequent	113
HP:0100530	HP:0003165	Elevated circulating parathyroid hormone level	1	PDE4D CL E G H	5144	8783	ORPHA:280651	Acrodysostosis with multiple hormone resistance	HP:0040281 - Very frequent	113
HP:0100530	HP:0003165	Elevated circulating parathyroid hormone level	1	PDE4D CL E G H	5144	8783	ORPHA:439822	PDE4D haploinsufficiency syndrome	HP:0040283 - Occasional	113
HP:0100530	HP:0003165	Elevated circulating parathyroid hormone level	1	PHEX CL E G H	5251	8918	OMIM:307800	Hypophosphatemic rickets, X-linked dominant	.	217
HP:0100530	HP:0003165	Elevated circulating parathyroid hormone level	1	PRKAR1A CL E G H	5573	9388	OMIM:101800	Acrodysostosis 1, with or without hormone resistance		134
HP:0100530	HP:0003528	Elevated calcitonin	1	PRKAR1A CL E G H	5573	9388	OMIM:101800	Acrodysostosis 1, with or without hormone resistance		134
HP:0100530	HP:0003165	Elevated circulating parathyroid hormone level	1	PRKAR1A CL E G H	5573	9388	ORPHA:280651	Acrodysostosis with multiple hormone resistance	HP:0040281 - Very frequent	134
HP:0100530	HP:0003528	Elevated calcitonin	1	PRKAR1A CL E G H	5573	9388	ORPHA:280651	Acrodysostosis with multiple hormone resistance	HP:0040281 - Very frequent	134
HP:0100530	HP:0031817	Decreased circulating parathyroid hormone level	1	PTH CL E G H	5741	9606	OMIM:146200	Hypoparathyroidism, familial isolated		16
HP:0100530	HP:0003528	Elevated calcitonin	1	RET CL E G H	5979	9967	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	572
HP:0100530	HP:0003528	Elevated calcitonin	1	RET CL E G H	5979	9967	OMIM:171400	Multiple endocrine neoplasia, type IIA	.	572
HP:0100530	HP:0003528	Elevated calcitonin	1	RET CL E G H	5979	9967	OMIM:162300	Multiple endocrine neoplasia, type IIB	.	572
HP:0100530	HP:0003528	Elevated calcitonin	1	SDHA CL E G H	6389	10680	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	304
HP:0100530	HP:0003528	Elevated calcitonin	1	SDHAF2 CL E G H	54949	26034	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	55
HP:0100530	HP:0003528	Elevated calcitonin	1	SDHB CL E G H	6390	10681	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	237
HP:0100530	HP:0003528	Elevated calcitonin	1	SDHC CL E G H	6391	10682	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	147
HP:0100530	HP:0003528	Elevated calcitonin	1	SDHD CL E G H	6392	10683	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	129
HP:0100530	HP:0003528	Elevated calcitonin	1	SLC25A11 CL E G H	8402	10981	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional
HP:0100530	HP:0031817	Decreased circulating parathyroid hormone level	1	SLC34A1 CL E G H	6569	11019	ORPHA:157215	Hereditary hypophosphatemic rickets with hypercalciuria	HP:0040281 - Very frequent	47
HP:0100530	HP:0031817	Decreased circulating parathyroid hormone level	1	SLC34A3 CL E G H	142680	20305	ORPHA:157215	Hereditary hypophosphatemic rickets with hypercalciuria	HP:0040281 - Very frequent	52
HP:0100530	HP:0003165	Elevated circulating parathyroid hormone level	1	SOST CL E G H	50964	13771	OMIM:122860	Craniodiaphyseal dysplasia, autosomal dominant	.	26
HP:0100530	HP:0003165	Elevated circulating parathyroid hormone level	1	STX16 CL E G H	8675	11431	ORPHA:94089	Pseudohypoparathyroidism type 1B	HP:0040281 - Very frequent	86
HP:0100530	HP:0003165	Elevated circulating parathyroid hormone level	1	STX16 CL E G H	8675	11431	OMIM:603233	Pseudohypoparathyroidism, type IB	.	86
HP:0100530	HP:0031817	Decreased circulating parathyroid hormone level	1	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome		32
HP:0100530	HP:0003528	Elevated calcitonin	1	TMEM127 CL E G H	55654	26038	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	131
HP:0100530	HP:0003165	Elevated circulating parathyroid hormone level	1	VDR CL E G H	7421	12679	OMIM:277440	Vitamin d-dependent rickets, type 2A	.	104
HP:0100530	HP:0003528	Elevated calcitonin	1	VHL CL E G H	7428	12687	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	490