Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormal blood cation concentration (HP:0010929)

Parent Node:
Abnormal blood inorganic cation concentration (HP:0010927)

..Starting node
..Abnormal circulating calcium concentration (HP:0004363)

Term ID:

4363

Name:

Abnormal circulating calcium concentration

Synonym:

Abnormal blood calcium concentration; Abnormal blood calcium levels; Abnormal circulating Ca concentration; Abnormal circulating Ca2+ concentration

Definition:

Any deviation from the normal concentration of calcium in the blood circulation.

Comments:

Reference:

HP:0004363

Genes and Diseases:

Child Nodes:

........

Abnormality of urine calcium concentration (HP:0011280)

................... HP:0002150 Hypercalciuria
................... HP:0003127 Hypocalciuria
................... HP:0003513 Reduced ratio of renal calcium clearance to creatinine clearance
................... HP:0012637 Renal calcium wasting

........

Abnormal concentration of calcium in blood (HP:0040077)

................... HP:0002901 Hypocalcemia
................... HP:0003072 Hypercalcemia

Sister Nodes:

Abnormal magnesium concentration (HP:0004921)

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:0004363	HP:0004363	Abnormal circulating calcium concentration	0	ACADVL CL E G H	37	92	ORPHA:26793	Very long chain acyl-CoA dehydrogenase deficiency		200
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	ADAMTS3 CL E G H	9508	219	ORPHA:2136	Hennekam syndrome		1
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	ALG12 CL E G H	79087	19358	OMIM:607143	Congenital disorder of glycosylation, type Ig		68
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	ALPL CL E G H	249	438	OMIM:241500	Hypophosphatasia, infantile		126
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	AP2S1 CL E G H	1175	565	OMIM:600740	Hypocalciuric hypercalcemia, familial, type III		6
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome		1
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome		1
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	BTK CL E G H	695	1133	ORPHA:47	X-linked agammaglobulinemia		109
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis		1
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	CA2 CL E G H	760	1373	ORPHA:2785	Osteopetrosis with renal tubular acidosis		29
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	CACNA1C CL E G H	775	1390	OMIM:601005	Timothy syndrome		572
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	CAMKMT CL E G H	79823	26276	ORPHA:163693	2p21 microdeletion syndrome		1
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	CASR CL E G H	846	1514	ORPHA:428	Autosomal dominant hypocalcemia		272
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	CASR CL E G H	846	1514	OMIM:239200	Hyperparathyroidism, neonatal severe		272
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	CASR CL E G H	846	1514	OMIM:601198	Hypocalcemia, autosomal dominant 1		272
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	CASR CL E G H	846	1514	OMIM:145980	Hypocalciuric hypercalcemia, familial, type I		272
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	CAV1 CL E G H	857	1527	OMIM:612526	Lipodystrophy, congenital generalized, type 3		11
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	CCBE1 CL E G H	147372	29426	ORPHA:2136	Hennekam syndrome		147
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	CCND1 CL E G H	595	1582	ORPHA:29073	Multiple myeloma		1
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	CDC73 CL E G H	79577	16783	ORPHA:99879	Familial isolated hyperparathyroidism		169
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	CDC73 CL E G H	79577	16783	OMIM:145000	Hyperparathyroidism 1		169
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	CDC73 CL E G H	79577	16783	OMIM:145001	Hyperparathyroidism 2		169
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	CDC73 CL E G H	79577	16783	ORPHA:99880	Hyperparathyroidism-jaw tumor syndrome		169
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	CDC73 CL E G H	79577	16783	OMIM:608266	Parathyroid carcinoma		169
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	CDC73 CL E G H	79577	16783	ORPHA:143	Parathyroid carcinoma		169
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1		2
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1		102
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	CDKN1B CL E G H	1027	1785	ORPHA:276152	Multiple endocrine neoplasia type 4		102
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	CDKN1C CL E G H	1028	1786	OMIM:614732	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasiacongenita, and genital anomalies		114
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1		1
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome		515
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	CLCN7 CL E G H	1186	2025	ORPHA:53	Albers-Schönberg osteopetrosis		102
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	CLCN7 CL E G H	1186	2025	ORPHA:667	Autosomal recessive malignant osteopetrosis		102
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome		27
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome		6
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	COX1 CL E G H	4512	7419	ORPHA:99845	Genetic recurrent myoglobinuria
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	COX3 CL E G H	4514	7422	ORPHA:99845	Genetic recurrent myoglobinuria
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	CSF1R CL E G H	1436	2433	OMIM:618476	Brain abnormalities, neurodegeneration, and dysosteosclerosis		149
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	CTNS CL E G H	1497	2518	ORPHA:411634	Juvenile nephropathic cystinosis		178
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	CYP24A1 CL E G H	1591	2602	OMIM:143880	Hypercalcemia, infantile, 1		73
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	CYP27B1 CL E G H	1594	2606	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets		41
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	CYP27B1 CL E G H	1594	2606	OMIM:264700	Vitamin D hydroxylation-deficient rickets, type 1A		41
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	CYP2R1 CL E G H	120227	20580	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets		5
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	CYP3A4 CL E G H	1576	2637	OMIM:619073	VITAMIN D-DEPENDENT RICKETS, TYPE 3; VDDR3		2
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	DGCR2 CL E G H	9993	2845	OMIM:192430	Velocardiofacial syndrome
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	DGCR6 CL E G H	8214	2846	OMIM:192430	Velocardiofacial syndrome
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	DGCR8 CL E G H	54487	2847	OMIM:192430	Velocardiofacial syndrome
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	DLST CL E G H	1743	2911	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	DNMT3A CL E G H	1788	2978	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma		44
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome		172
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome		172
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	EPAS1 CL E G H	2034	3374	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma		112
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	ESS2 CL E G H	8220	16817	OMIM:192430	Velocardiofacial syndrome
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	FAM111A CL E G H	63901	24725	ORPHA:93325	Autosomal dominant Kenny-Caffey syndrome		8
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	FAM111A CL E G H	63901	24725	OMIM:602361	Gracile bone dysplasia		8
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	FAM111A CL E G H	63901	24725	OMIM:127000	Kenny-caffey syndrome, type 2		8
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	FARSB CL E G H	10056	17800	OMIM:613658	Rajab interstitial lung disease with brain calcifications
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	FAT4 CL E G H	79633	23109	ORPHA:2136	Hennekam syndrome		114
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	FGF23 CL E G H	8074	3680	ORPHA:89937	Autosomal dominant hypophosphatemic rickets		51
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	FH CL E G H	2271	3700	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		301
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	FOCAD CL E G H	54914	23377	OMIM:619991			3
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	FOXP3 CL E G H	50943	6106	ORPHA:37042	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome		32
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	GATA3 CL E G H	2625	4172	ORPHA:2237	Hypoparathyroidism-sensorineural deafness-renal disease syndrome		83
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	GCM2 CL E G H	9247	4198	ORPHA:99879	Familial isolated hyperparathyroidism		51
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	GCM2 CL E G H	9247	4198	ORPHA:2239	Familial isolated hypoparathyroidism due to agenesis of parathyroid gland		51
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	GCM2 CL E G H	9247	4198	OMIM:617343	Hyperparathyroidism 4		51
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	GCM2 CL E G H	9247	4198	OMIM:618883	HYPOPARATHYROIDISM, FAMILIAL ISOLATED, 2; FIH2		51
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	GEMIN4 CL E G H	50628	15717	OMIM:617913	Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities		1
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	GNA11 CL E G H	2767	4379	ORPHA:428	Autosomal dominant hypocalcemia		16
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	GNA11 CL E G H	2767	4379	OMIM:615361	Hypocalcemia, autosomal dominant 2		16
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	GNA11 CL E G H	2767	4379	OMIM:145981	Hypocalciuric hypercalcemia, familial, type II		16
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	GNAS CL E G H	2778	4392	ORPHA:79443	Pseudohypoparathyroidism type 1A		101
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	GNAS CL E G H	2778	4392	ORPHA:94089	Pseudohypoparathyroidism type 1B		101
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	GNAS CL E G H	2778	4392	ORPHA:79444	Pseudohypoparathyroidism type 1C		101
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	GNAS CL E G H	2778	4392	OMIM:103580	Pseudohypoparathyroidism, type IA		101
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	GNAS CL E G H	2778	4392	OMIM:603233	Pseudohypoparathyroidism, type IB		101
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	GNAS CL E G H	2778	4392	OMIM:612462	Pseudohypoparathyroidism, type IC		101
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	GNAS-AS1 CL E G H	149775	24872	OMIM:603233	Pseudohypoparathyroidism, type IB		1
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome		8
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome		1
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome		1
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome		1
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	HADHA CL E G H	3030	4801	ORPHA:746	Mitochondrial trifunctional protein deficiency		99
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	HADHB CL E G H	3032	4803	ORPHA:746	Mitochondrial trifunctional protein deficiency		60
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome		3
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	HLA-DQA1 CL E G H	3117	4942	OMIM:212750	Celiac disease, susceptibility to, 1
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	HLA-DQB1 CL E G H	3119	4944	OMIM:212750	Celiac disease, susceptibility to, 1
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis		2
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	IFT122 CL E G H	55764	13556	OMIM:218330	Cranioectodermal dysplasia		93
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome		2
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	KIF1B CL E G H	23095	16636	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		202
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	KIF1B CL E G H	23095	16636	OMIM:171300	PHEOCHROMOCYTOMA		202
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	KL CL E G H	9365	6344	OMIM:617994	TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 3; HFTC3		68
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	LDHA CL E G H	3939	6535	ORPHA:284426	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency		35
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	LPIN1 CL E G H	23175	13345	ORPHA:99845	Genetic recurrent myoglobinuria		95
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	MAX CL E G H	4149	6913	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		84
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	MAX CL E G H	4149	6913	OMIM:171300	PHEOCHROMOCYTOMA		84
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	MDH2 CL E G H	4191	6971	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		4
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	MEN1 CL E G H	4221	7010	ORPHA:99879	Familial isolated hyperparathyroidism		462
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	MEN1 CL E G H	4221	7010	OMIM:131100	Multiple endocrine neoplasia 1		462
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1		462
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome		1
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome		1
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome		1
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome		13
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	NF1 CL E G H	4763	7765	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		1952
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	NOTCH3 CL E G H	4854	7883	ORPHA:2591	Infantile myofibromatosis		144
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome		544
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	ORAI1 CL E G H	84876	25896	OMIM:615883	Myopathy, tubular aggregate, 2		19
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	OSTM1 CL E G H	28962	21652	OMIM:259720	Osteopetrosis, autosomal recessive 5		73
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	PDE4D CL E G H	5144	8783	ORPHA:280651	Acrodysostosis with multiple hormone resistance		113
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	PDGFRB CL E G H	5159	8804	ORPHA:2591	Infantile myofibromatosis		28
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	PIGT CL E G H	51604	14938	ORPHA:369837	Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome		12
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	PIK3C2A CL E G H	5286	8971	ORPHA:557003	Oculocerebrodental syndrome
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	PIK3C2A CL E G H	5286	8971	OMIM:618440	Oculoskeletodental syndrome
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	PLVAP CL E G H	83483	13635	OMIM:618183	Diarrhea 10, protein-losing Enteropathy type
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	PPM1B CL E G H	5495	9276	ORPHA:163693	2p21 microdeletion syndrome
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	PREPL CL E G H	9581	30228	ORPHA:163693	2p21 microdeletion syndrome		7
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	PRKAR1A CL E G H	5573	9388	ORPHA:280651	Acrodysostosis with multiple hormone resistance		134
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	PTH CL E G H	5741	9606	OMIM:146200	Hypoparathyroidism, familial isolated		16
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	PTH1R CL E G H	5745	9608	OMIM:156400	Metaphyseal chondrodysplasia, Jansen type		58
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	RET CL E G H	5979	9967	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		572
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	RET CL E G H	5979	9967	OMIM:171300	PHEOCHROMOCYTOMA		572
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	RET CL E G H	5979	9967	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma		572
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	RMRP CL E G H	6023	10031	ORPHA:175	Cartilage-hair hypoplasia		37
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	RYR1 CL E G H	6261	10483	ORPHA:466650	Exercise-induced malignant hyperthermia		1200
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	SDHA CL E G H	6389	10680	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		304
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	SDHAF2 CL E G H	54949	26034	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		55
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	SDHB CL E G H	6390	10681	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		237
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	SDHB CL E G H	6390	10681	OMIM:171300	PHEOCHROMOCYTOMA		237
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	SDHB CL E G H	6390	10681	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma		237
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	SDHC CL E G H	6391	10682	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		147
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	SDHD CL E G H	6392	10683	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		129
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	SDHD CL E G H	6392	10683	OMIM:171300	PHEOCHROMOCYTOMA		129
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	SDHD CL E G H	6392	10683	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma		129
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome		60
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	SLC12A1 CL E G H	6557	10910	OMIM:601678	Bartter syndrome, type 1, antenatal		75
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	SLC12A3 CL E G H	6559	10912	ORPHA:358	Gitelman syndrome		145
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	SLC25A11 CL E G H	8402	10981	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	SLC34A1 CL E G H	6569	11019	OMIM:616963	HYPERCALCEMIA, INFANTILE, 2; HCINF2		47
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	SLC3A1 CL E G H	6519	11025	ORPHA:163693	2p21 microdeletion syndrome		55
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	SLC4A1 CL E G H	6521	11027	OMIM:179800	Renal tubular acidosis, distal, autosomal dominant		109
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	SLC5A1 CL E G H	6523	11036	ORPHA:35710	Glucose-galactose malabsorption		74
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	SNX10 CL E G H	29887	14974	ORPHA:667	Autosomal recessive malignant osteopetrosis		2
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	STX16 CL E G H	8675	11431	ORPHA:94089	Pseudohypoparathyroidism type 1B		86
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	STX16 CL E G H	8675	11431	OMIM:603233	Pseudohypoparathyroidism, type IB		86
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	TBCE CL E G H	6905	11582	ORPHA:93324	Autosomal recessive Kenny-Caffey syndrome		52
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	TBCE CL E G H	6905	11582	OMIM:241410	Hypoparathyroidism-Retardation-Dysmorphism syndrome		52
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	TBCE CL E G H	6905	11582	OMIM:244460	Kenny-caffey syndrome, type 1		52
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	TBCE CL E G H	6905	11582	ORPHA:2323	Sanjad-Sakati syndrome		52
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome		32
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome		32
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	TBX1 CL E G H	6899	11592	OMIM:192430	Velocardiofacial syndrome		32
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	TCIRG1 CL E G H	10312	11647	ORPHA:667	Autosomal recessive malignant osteopetrosis		82
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	TCIRG1 CL E G H	10312	11647	OMIM:259700	Osteopetrosis, autosomal recessive 1		82
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	TMEM127 CL E G H	55654	26038	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		131
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	TMEM127 CL E G H	55654	26038	OMIM:171300	PHEOCHROMOCYTOMA		131
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	TNFRSF11A CL E G H	8792	11908	OMIM:612301	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7; OPTB7		72
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	TNFRSF11A CL E G H	8792	11908	OMIM:602080	Paget disease of bone 2, early-onset		72
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	TNFSF11 CL E G H	8600	11926	ORPHA:667	Autosomal recessive malignant osteopetrosis		44
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	TRIO CL E G H	7204	12303	ORPHA:476126	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome		8
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	TRPM6 CL E G H	140803	17995	OMIM:602014	Hypomagnesemia 1, intestinal		85
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome		25
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	USP53 CL E G H	54532	29255	OMIM:619658	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 7, WITH OR WITHOUT HEARING LOSS; PFIC7
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	VDR CL E G H	7421	12679	ORPHA:93160	Hypocalcemic vitamin D-resistant rickets		104
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	VDR CL E G H	7421	12679	OMIM:277440	Vitamin d-dependent rickets, type 2A		104
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	VHL CL E G H	7428	12687	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		490
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	VHL CL E G H	7428	12687	OMIM:171300	PHEOCHROMOCYTOMA		490
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	VHL CL E G H	7428	12687	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma		490
HP:0004363	HP:0004363	Abnormal circulating calcium concentration	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0004363	HP:0002901	Hypocalcemia	1	ACADVL CL E G H	37	92	ORPHA:26793	Very long chain acyl-CoA dehydrogenase deficiency	HP:0040284 - Very rare	200
HP:0004363	HP:0002901	Hypocalcemia	1	ADAMTS3 CL E G H	9508	219	ORPHA:2136	Hennekam syndrome	HP:0040283 - Occasional	1
HP:0004363	HP:0002901	Hypocalcemia	1	ALG12 CL E G H	79087	19358	OMIM:607143	Congenital disorder of glycosylation, type Ig		68
HP:0004363	HP:0003072	Hypercalcemia	1	ALPL CL E G H	249	438	OMIM:241500	Hypophosphatasia, infantile	.	126
HP:0004363	HP:0003072	Hypercalcemia	1	AP2S1 CL E G H	1175	565	OMIM:600740	Hypocalciuric hypercalcemia, familial, type III	.	6
HP:0004363	HP:0003072	Hypercalcemia	1	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare	1
HP:0004363	HP:0002901	Hypocalcemia	1	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent	1
HP:0004363	HP:0003072	Hypercalcemia	1	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0004363	HP:0003072	Hypercalcemia	1	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0004363	HP:0002901	Hypocalcemia	1	BTK CL E G H	695	1133	ORPHA:47	X-linked agammaglobulinemia	HP:0040282 - Frequent	109
HP:0004363	HP:0003072	Hypercalcemia	1	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis	HP:0040283 - Occasional	1
HP:0004363	HP:0003072	Hypercalcemia	1	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0004363	HP:0002901	Hypocalcemia	1	CA2 CL E G H	760	1373	ORPHA:2785	Osteopetrosis with renal tubular acidosis		29
HP:0004363	HP:0002901	Hypocalcemia	1	CACNA1C CL E G H	775	1390	OMIM:601005	Timothy syndrome	HP:0040283 - Occasional	572
HP:0004363	HP:0002901	Hypocalcemia	1	CAMKMT CL E G H	79823	26276	ORPHA:163693	2p21 microdeletion syndrome	HP:0040282 - Frequent	1
HP:0004363	HP:0002901	Hypocalcemia	1	CASR CL E G H	846	1514	ORPHA:428	Autosomal dominant hypocalcemia	HP:0040281 - Very frequent	272
HP:0004363	HP:0003072	Hypercalcemia	1	CASR CL E G H	846	1514	OMIM:239200	Hyperparathyroidism, neonatal severe	.	272
HP:0004363	HP:0002901	Hypocalcemia	1	CASR CL E G H	846	1514	OMIM:601198	Hypocalcemia, autosomal dominant 1		272
HP:0004363	HP:0003072	Hypercalcemia	1	CASR CL E G H	846	1514	OMIM:145980	Hypocalciuric hypercalcemia, familial, type I	.	272
HP:0004363	HP:0002901	Hypocalcemia	1	CAV1 CL E G H	857	1527	OMIM:612526	Lipodystrophy, congenital generalized, type 3		11
HP:0004363	HP:0002901	Hypocalcemia	1	CCBE1 CL E G H	147372	29426	ORPHA:2136	Hennekam syndrome	HP:0040283 - Occasional	147
HP:0004363	HP:0003072	Hypercalcemia	1	CCND1 CL E G H	595	1582	ORPHA:29073	Multiple myeloma	HP:0040283 - Occasional	1
HP:0004363	HP:0003072	Hypercalcemia	1	CDC73 CL E G H	79577	16783	ORPHA:99879	Familial isolated hyperparathyroidism	HP:0040281 - Very frequent	169
HP:0004363	HP:0003072	Hypercalcemia	1	CDC73 CL E G H	79577	16783	OMIM:145000	Hyperparathyroidism 1	.	169
HP:0004363	HP:0003072	Hypercalcemia	1	CDC73 CL E G H	79577	16783	OMIM:145001	Hyperparathyroidism 2	.	169
HP:0004363	HP:0003072	Hypercalcemia	1	CDC73 CL E G H	79577	16783	ORPHA:99880	Hyperparathyroidism-jaw tumor syndrome	HP:0040280 - Obligate	169
HP:0004363	HP:0003072	Hypercalcemia	1	CDC73 CL E G H	79577	16783	OMIM:608266	Parathyroid carcinoma	.	169
HP:0004363	HP:0003072	Hypercalcemia	1	CDC73 CL E G H	79577	16783	ORPHA:143	Parathyroid carcinoma	HP:0040280 - Obligate	169
HP:0004363	HP:0003072	Hypercalcemia	1	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040281 - Very frequent	2
HP:0004363	HP:0003072	Hypercalcemia	1	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040281 - Very frequent	102
HP:0004363	HP:0003072	Hypercalcemia	1	CDKN1B CL E G H	1027	1785	ORPHA:276152	Multiple endocrine neoplasia type 4	HP:0040281 - Very frequent	102
HP:0004363	HP:0003072	Hypercalcemia	1	CDKN1C CL E G H	1028	1786	OMIM:614732	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasiacongenita, and genital anomalies	.	114
HP:0004363	HP:0003072	Hypercalcemia	1	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040281 - Very frequent	1
HP:0004363	HP:0003072	Hypercalcemia	1	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040281 - Very frequent
HP:0004363	HP:0002901	Hypocalcemia	1	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome	.	515
HP:0004363	HP:0002901	Hypocalcemia	1	CLCN7 CL E G H	1186	2025	ORPHA:53	Albers-Schönberg osteopetrosis	HP:0040283 - Occasional	102
HP:0004363	HP:0002901	Hypocalcemia	1	CLCN7 CL E G H	1186	2025	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040283 - Occasional	102
HP:0004363	HP:0002901	Hypocalcemia	1	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome	HP:0040283 - Occasional	27
HP:0004363	HP:0003072	Hypercalcemia	1	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0004363	HP:0002901	Hypocalcemia	1	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent	6
HP:0004363	HP:0002901	Hypocalcemia	1	COX1 CL E G H	4512	7419	ORPHA:99845	Genetic recurrent myoglobinuria
HP:0004363	HP:0002901	Hypocalcemia	1	COX3 CL E G H	4514	7422	ORPHA:99845	Genetic recurrent myoglobinuria
HP:0004363	HP:0002901	Hypocalcemia	1	CSF1R CL E G H	1436	2433	OMIM:618476	Brain abnormalities, neurodegeneration, and dysosteosclerosis	HP:0040284 - Very rare	149
HP:0004363	HP:0002901	Hypocalcemia	1	CTNS CL E G H	1497	2518	ORPHA:411634	Juvenile nephropathic cystinosis	HP:0040283 - Occasional	178
HP:0004363	HP:0003072	Hypercalcemia	1	CYP24A1 CL E G H	1591	2602	OMIM:143880	Hypercalcemia, infantile, 1		73
HP:0004363	HP:0002901	Hypocalcemia	1	CYP27B1 CL E G H	1594	2606	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets	HP:0040280 - Obligate	41
HP:0004363	HP:0002901	Hypocalcemia	1	CYP27B1 CL E G H	1594	2606	OMIM:264700	Vitamin D hydroxylation-deficient rickets, type 1A		41
HP:0004363	HP:0002901	Hypocalcemia	1	CYP2R1 CL E G H	120227	20580	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets	HP:0040280 - Obligate	5
HP:0004363	HP:0002901	Hypocalcemia	1	CYP3A4 CL E G H	1576	2637	OMIM:619073	VITAMIN D-DEPENDENT RICKETS, TYPE 3; VDDR3		2
HP:0004363	HP:0002901	Hypocalcemia	1	DGCR2 CL E G H	9993	2845	OMIM:192430	Velocardiofacial syndrome
HP:0004363	HP:0002901	Hypocalcemia	1	DGCR6 CL E G H	8214	2846	OMIM:192430	Velocardiofacial syndrome
HP:0004363	HP:0002901	Hypocalcemia	1	DGCR8 CL E G H	54487	2847	OMIM:192430	Velocardiofacial syndrome
HP:0004363	HP:0003072	Hypercalcemia	1	DLST CL E G H	1743	2911	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent
HP:0004363	HP:0003072	Hypercalcemia	1	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0004363	HP:0003072	Hypercalcemia	1	DNMT3A CL E G H	1788	2978	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent	44
HP:0004363	HP:0003072	Hypercalcemia	1	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0004363	HP:0003072	Hypercalcemia	1	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	172
HP:0004363	HP:0003072	Hypercalcemia	1	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome		172
HP:0004363	HP:0003072	Hypercalcemia	1	EPAS1 CL E G H	2034	3374	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent	112
HP:0004363	HP:0002901	Hypocalcemia	1	ESS2 CL E G H	8220	16817	OMIM:192430	Velocardiofacial syndrome
HP:0004363	HP:0002901	Hypocalcemia	1	FAM111A CL E G H	63901	24725	ORPHA:93325	Autosomal dominant Kenny-Caffey syndrome		8
HP:0004363	HP:0002901	Hypocalcemia	1	FAM111A CL E G H	63901	24725	OMIM:602361	Gracile bone dysplasia	.	8
HP:0004363	HP:0002901	Hypocalcemia	1	FAM111A CL E G H	63901	24725	OMIM:127000	Kenny-caffey syndrome, type 2	.	8
HP:0004363	HP:0002901	Hypocalcemia	1	FARSB CL E G H	10056	17800	OMIM:613658	Rajab interstitial lung disease with brain calcifications
HP:0004363	HP:0002901	Hypocalcemia	1	FAT4 CL E G H	79633	23109	ORPHA:2136	Hennekam syndrome	HP:0040283 - Occasional	114
HP:0004363	HP:0002901	Hypocalcemia	1	FGF23 CL E G H	8074	3680	ORPHA:89937	Autosomal dominant hypophosphatemic rickets	HP:0040284 - Very rare	51
HP:0004363	HP:0003072	Hypercalcemia	1	FH CL E G H	2271	3700	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	301
HP:0004363	HP:0003072	Hypercalcemia	1	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0004363	HP:0002901	Hypocalcemia	1	FOCAD CL E G H	54914	23377	OMIM:619991			3
HP:0004363	HP:0002901	Hypocalcemia	1	FOXP3 CL E G H	50943	6106	ORPHA:37042	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome	HP:0040283 - Occasional	32
HP:0004363	HP:0002901	Hypocalcemia	1	GATA3 CL E G H	2625	4172	ORPHA:2237	Hypoparathyroidism-sensorineural deafness-renal disease syndrome	HP:0040282 - Frequent	83
HP:0004363	HP:0003072	Hypercalcemia	1	GCM2 CL E G H	9247	4198	ORPHA:99879	Familial isolated hyperparathyroidism	HP:0040281 - Very frequent	51
HP:0004363	HP:0002901	Hypocalcemia	1	GCM2 CL E G H	9247	4198	ORPHA:2239	Familial isolated hypoparathyroidism due to agenesis of parathyroid gland	HP:0040280 - Obligate	51
HP:0004363	HP:0003072	Hypercalcemia	1	GCM2 CL E G H	9247	4198	OMIM:617343	Hyperparathyroidism 4	.	51
HP:0004363	HP:0002901	Hypocalcemia	1	GCM2 CL E G H	9247	4198	OMIM:618883	HYPOPARATHYROIDISM, FAMILIAL ISOLATED, 2; FIH2		51
HP:0004363	HP:0002901	Hypocalcemia	1	GEMIN4 CL E G H	50628	15717	OMIM:617913	Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities		1
HP:0004363	HP:0002901	Hypocalcemia	1	GNA11 CL E G H	2767	4379	ORPHA:428	Autosomal dominant hypocalcemia	HP:0040281 - Very frequent	16
HP:0004363	HP:0002901	Hypocalcemia	1	GNA11 CL E G H	2767	4379	OMIM:615361	Hypocalcemia, autosomal dominant 2	.	16
HP:0004363	HP:0003072	Hypercalcemia	1	GNA11 CL E G H	2767	4379	OMIM:145981	Hypocalciuric hypercalcemia, familial, type II	.	16
HP:0004363	HP:0002901	Hypocalcemia	1	GNAS CL E G H	2778	4392	ORPHA:79443	Pseudohypoparathyroidism type 1A	HP:0040281 - Very frequent	101
HP:0004363	HP:0002901	Hypocalcemia	1	GNAS CL E G H	2778	4392	ORPHA:94089	Pseudohypoparathyroidism type 1B	HP:0040281 - Very frequent	101
HP:0004363	HP:0002901	Hypocalcemia	1	GNAS CL E G H	2778	4392	ORPHA:79444	Pseudohypoparathyroidism type 1C	HP:0040281 - Very frequent	101
HP:0004363	HP:0002901	Hypocalcemia	1	GNAS CL E G H	2778	4392	OMIM:103580	Pseudohypoparathyroidism, type IA		101
HP:0004363	HP:0002901	Hypocalcemia	1	GNAS CL E G H	2778	4392	OMIM:603233	Pseudohypoparathyroidism, type IB	.	101
HP:0004363	HP:0002901	Hypocalcemia	1	GNAS CL E G H	2778	4392	OMIM:612462	Pseudohypoparathyroidism, type IC		101
HP:0004363	HP:0002901	Hypocalcemia	1	GNAS-AS1 CL E G H	149775	24872	OMIM:603233	Pseudohypoparathyroidism, type IB	.	1
HP:0004363	HP:0002901	Hypocalcemia	1	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0004363	HP:0002901	Hypocalcemia	1	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent	8
HP:0004363	HP:0003072	Hypercalcemia	1	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0004363	HP:0003072	Hypercalcemia	1	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0004363	HP:0003072	Hypercalcemia	1	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0004363	HP:0002901	Hypocalcemia	1	HADHA CL E G H	3030	4801	ORPHA:746	Mitochondrial trifunctional protein deficiency	HP:0040282 - Frequent	99
HP:0004363	HP:0002901	Hypocalcemia	1	HADHB CL E G H	3032	4803	ORPHA:746	Mitochondrial trifunctional protein deficiency	HP:0040282 - Frequent	60
HP:0004363	HP:0002901	Hypocalcemia	1	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent	3
HP:0004363	HP:0002901	Hypocalcemia	1	HLA-DQA1 CL E G H	3117	4942	OMIM:212750	Celiac disease, susceptibility to, 1	.
HP:0004363	HP:0002901	Hypocalcemia	1	HLA-DQB1 CL E G H	3119	4944	OMIM:212750	Celiac disease, susceptibility to, 1	.
HP:0004363	HP:0003072	Hypercalcemia	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis	HP:0040283 - Occasional	2
HP:0004363	HP:0002901	Hypocalcemia	1	IFT122 CL E G H	55764	13556	OMIM:218330	Cranioectodermal dysplasia	.	93
HP:0004363	HP:0002901	Hypocalcemia	1	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent	2
HP:0004363	HP:0003072	Hypercalcemia	1	KIF1B CL E G H	23095	16636	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	202
HP:0004363	HP:0003072	Hypercalcemia	1	KIF1B CL E G H	23095	16636	OMIM:171300	PHEOCHROMOCYTOMA	.	202
HP:0004363	HP:0003072	Hypercalcemia	1	KL CL E G H	9365	6344	OMIM:617994	TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 3; HFTC3		68
HP:0004363	HP:0003072	Hypercalcemia	1	LDHA CL E G H	3939	6535	ORPHA:284426	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	HP:0040283 - Occasional	35
HP:0004363	HP:0003072	Hypercalcemia	1	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0004363	HP:0002901	Hypocalcemia	1	LPIN1 CL E G H	23175	13345	ORPHA:99845	Genetic recurrent myoglobinuria		95
HP:0004363	HP:0003072	Hypercalcemia	1	MAX CL E G H	4149	6913	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	84
HP:0004363	HP:0003072	Hypercalcemia	1	MAX CL E G H	4149	6913	OMIM:171300	PHEOCHROMOCYTOMA	.	84
HP:0004363	HP:0003072	Hypercalcemia	1	MDH2 CL E G H	4191	6971	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	4
HP:0004363	HP:0003072	Hypercalcemia	1	MEN1 CL E G H	4221	7010	ORPHA:99879	Familial isolated hyperparathyroidism	HP:0040281 - Very frequent	462
HP:0004363	HP:0003072	Hypercalcemia	1	MEN1 CL E G H	4221	7010	OMIM:131100	Multiple endocrine neoplasia 1	.	462
HP:0004363	HP:0003072	Hypercalcemia	1	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040281 - Very frequent	462
HP:0004363	HP:0003072	Hypercalcemia	1	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0004363	HP:0003072	Hypercalcemia	1	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0004363	HP:0003072	Hypercalcemia	1	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome		1
HP:0004363	HP:0003072	Hypercalcemia	1	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	13
HP:0004363	HP:0003072	Hypercalcemia	1	NF1 CL E G H	4763	7765	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	1952
HP:0004363	HP:0003072	Hypercalcemia	1	NOTCH3 CL E G H	4854	7883	ORPHA:2591	Infantile myofibromatosis	HP:0040283 - Occasional	144
HP:0004363	HP:0003072	Hypercalcemia	1	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare	544
HP:0004363	HP:0002901	Hypocalcemia	1	ORAI1 CL E G H	84876	25896	OMIM:615883	Myopathy, tubular aggregate, 2	.	19
HP:0004363	HP:0002901	Hypocalcemia	1	OSTM1 CL E G H	28962	21652	OMIM:259720	Osteopetrosis, autosomal recessive 5	.	73
HP:0004363	HP:0002901	Hypocalcemia	1	PDE4D CL E G H	5144	8783	ORPHA:280651	Acrodysostosis with multiple hormone resistance	HP:0040281 - Very frequent	113
HP:0004363	HP:0003072	Hypercalcemia	1	PDGFRB CL E G H	5159	8804	ORPHA:2591	Infantile myofibromatosis	HP:0040283 - Occasional	28
HP:0004363	HP:0003072	Hypercalcemia	1	PIGT CL E G H	51604	14938	ORPHA:369837	Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome	HP:0040282 - Frequent	12
HP:0004363	HP:0003072	Hypercalcemia	1	PIK3C2A CL E G H	5286	8971	ORPHA:557003	Oculocerebrodental syndrome	HP:0040282 - Frequent
HP:0004363	HP:0002901	Hypocalcemia	1	PIK3C2A CL E G H	5286	8971	ORPHA:557003	Oculocerebrodental syndrome	HP:0040283 - Occasional
HP:0004363	HP:0002901	Hypocalcemia	1	PIK3C2A CL E G H	5286	8971	OMIM:618440	Oculoskeletodental syndrome	.
HP:0004363	HP:0003072	Hypercalcemia	1	PIK3C2A CL E G H	5286	8971	OMIM:618440	Oculoskeletodental syndrome	.
HP:0004363	HP:0002901	Hypocalcemia	1	PLVAP CL E G H	83483	13635	OMIM:618183	Diarrhea 10, protein-losing Enteropathy type	.
HP:0004363	HP:0002901	Hypocalcemia	1	PPM1B CL E G H	5495	9276	ORPHA:163693	2p21 microdeletion syndrome	HP:0040282 - Frequent
HP:0004363	HP:0002901	Hypocalcemia	1	PREPL CL E G H	9581	30228	ORPHA:163693	2p21 microdeletion syndrome	HP:0040282 - Frequent	7
HP:0004363	HP:0002901	Hypocalcemia	1	PRKAR1A CL E G H	5573	9388	ORPHA:280651	Acrodysostosis with multiple hormone resistance	HP:0040281 - Very frequent	134
HP:0004363	HP:0002901	Hypocalcemia	1	PTH CL E G H	5741	9606	OMIM:146200	Hypoparathyroidism, familial isolated	.	16
HP:0004363	HP:0003072	Hypercalcemia	1	PTH1R CL E G H	5745	9608	OMIM:156400	Metaphyseal chondrodysplasia, Jansen type	.	58
HP:0004363	HP:0003072	Hypercalcemia	1	RET CL E G H	5979	9967	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	572
HP:0004363	HP:0003072	Hypercalcemia	1	RET CL E G H	5979	9967	OMIM:171300	PHEOCHROMOCYTOMA	.	572
HP:0004363	HP:0003072	Hypercalcemia	1	RET CL E G H	5979	9967	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent	572
HP:0004363	HP:0003072	Hypercalcemia	1	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0004363	HP:0002901	Hypocalcemia	1	RMRP CL E G H	6023	10031	ORPHA:175	Cartilage-hair hypoplasia	HP:0040281 - Very frequent	37
HP:0004363	HP:0002901	Hypocalcemia	1	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent
HP:0004363	HP:0002901	Hypocalcemia	1	RYR1 CL E G H	6261	10483	ORPHA:466650	Exercise-induced malignant hyperthermia	HP:0040283 - Occasional	1200
HP:0004363	HP:0003072	Hypercalcemia	1	SDHA CL E G H	6389	10680	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	304
HP:0004363	HP:0003072	Hypercalcemia	1	SDHAF2 CL E G H	54949	26034	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	55
HP:0004363	HP:0003072	Hypercalcemia	1	SDHB CL E G H	6390	10681	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	237
HP:0004363	HP:0003072	Hypercalcemia	1	SDHB CL E G H	6390	10681	OMIM:171300	PHEOCHROMOCYTOMA	.	237
HP:0004363	HP:0003072	Hypercalcemia	1	SDHB CL E G H	6390	10681	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent	237
HP:0004363	HP:0003072	Hypercalcemia	1	SDHC CL E G H	6391	10682	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	147
HP:0004363	HP:0003072	Hypercalcemia	1	SDHD CL E G H	6392	10683	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	129
HP:0004363	HP:0003072	Hypercalcemia	1	SDHD CL E G H	6392	10683	OMIM:171300	PHEOCHROMOCYTOMA	.	129
HP:0004363	HP:0003072	Hypercalcemia	1	SDHD CL E G H	6392	10683	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent	129
HP:0004363	HP:0002901	Hypocalcemia	1	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent
HP:0004363	HP:0003072	Hypercalcemia	1	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare	60
HP:0004363	HP:0003072	Hypercalcemia	1	SLC12A1 CL E G H	6557	10910	OMIM:601678	Bartter syndrome, type 1, antenatal	.	75
HP:0004363	HP:0002901	Hypocalcemia	1	SLC12A3 CL E G H	6559	10912	ORPHA:358	Gitelman syndrome	HP:0040283 - Occasional	145
HP:0004363	HP:0003072	Hypercalcemia	1	SLC25A11 CL E G H	8402	10981	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent
HP:0004363	HP:0003072	Hypercalcemia	1	SLC34A1 CL E G H	6569	11019	OMIM:616963	HYPERCALCEMIA, INFANTILE, 2; HCINF2		47
HP:0004363	HP:0002901	Hypocalcemia	1	SLC3A1 CL E G H	6519	11025	ORPHA:163693	2p21 microdeletion syndrome	HP:0040282 - Frequent	55
HP:0004363	HP:0002901	Hypocalcemia	1	SLC4A1 CL E G H	6521	11027	OMIM:179800	Renal tubular acidosis, distal, autosomal dominant	.	109
HP:0004363	HP:0003072	Hypercalcemia	1	SLC5A1 CL E G H	6523	11036	ORPHA:35710	Glucose-galactose malabsorption	HP:0040283 - Occasional	74
HP:0004363	HP:0002901	Hypocalcemia	1	SNX10 CL E G H	29887	14974	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040283 - Occasional	2
HP:0004363	HP:0002901	Hypocalcemia	1	STX16 CL E G H	8675	11431	ORPHA:94089	Pseudohypoparathyroidism type 1B	HP:0040281 - Very frequent	86
HP:0004363	HP:0002901	Hypocalcemia	1	STX16 CL E G H	8675	11431	OMIM:603233	Pseudohypoparathyroidism, type IB	.	86
HP:0004363	HP:0003072	Hypercalcemia	1	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0004363	HP:0002901	Hypocalcemia	1	TBCE CL E G H	6905	11582	ORPHA:93324	Autosomal recessive Kenny-Caffey syndrome	HP:0040281 - Very frequent	52
HP:0004363	HP:0002901	Hypocalcemia	1	TBCE CL E G H	6905	11582	OMIM:241410	Hypoparathyroidism-Retardation-Dysmorphism syndrome	.	52
HP:0004363	HP:0002901	Hypocalcemia	1	TBCE CL E G H	6905	11582	OMIM:244460	Kenny-caffey syndrome, type 1	.	52
HP:0004363	HP:0002901	Hypocalcemia	1	TBCE CL E G H	6905	11582	ORPHA:2323	Sanjad-Sakati syndrome	HP:0040281 - Very frequent	52
HP:0004363	HP:0003072	Hypercalcemia	1	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0004363	HP:0002901	Hypocalcemia	1	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent	32
HP:0004363	HP:0002901	Hypocalcemia	1	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome	.	32
HP:0004363	HP:0002901	Hypocalcemia	1	TBX1 CL E G H	6899	11592	OMIM:192430	Velocardiofacial syndrome		32
HP:0004363	HP:0002901	Hypocalcemia	1	TCIRG1 CL E G H	10312	11647	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040283 - Occasional	82
HP:0004363	HP:0002901	Hypocalcemia	1	TCIRG1 CL E G H	10312	11647	OMIM:259700	Osteopetrosis, autosomal recessive 1		82
HP:0004363	HP:0003072	Hypercalcemia	1	TMEM127 CL E G H	55654	26038	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	131
HP:0004363	HP:0003072	Hypercalcemia	1	TMEM127 CL E G H	55654	26038	OMIM:171300	PHEOCHROMOCYTOMA	.	131
HP:0004363	HP:0003072	Hypercalcemia	1	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0004363	HP:0002901	Hypocalcemia	1	TNFRSF11A CL E G H	8792	11908	OMIM:612301	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7; OPTB7		72
HP:0004363	HP:0003072	Hypercalcemia	1	TNFRSF11A CL E G H	8792	11908	OMIM:602080	Paget disease of bone 2, early-onset		72
HP:0004363	HP:0002901	Hypocalcemia	1	TNFSF11 CL E G H	8600	11926	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040283 - Occasional	44
HP:0004363	HP:0003072	Hypercalcemia	1	TRIO CL E G H	7204	12303	ORPHA:476126	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	HP:0040283 - Occasional	8
HP:0004363	HP:0002901	Hypocalcemia	1	TRPM6 CL E G H	140803	17995	OMIM:602014	Hypomagnesemia 1, intestinal	.	85
HP:0004363	HP:0002901	Hypocalcemia	1	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome	.	25
HP:0004363	HP:0002901	Hypocalcemia	1	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent
HP:0004363	HP:0002901	Hypocalcemia	1	USP53 CL E G H	54532	29255	OMIM:619658	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 7, WITH OR WITHOUT HEARING LOSS; PFIC7
HP:0004363	HP:0002901	Hypocalcemia	1	VDR CL E G H	7421	12679	ORPHA:93160	Hypocalcemic vitamin D-resistant rickets	HP:0040281 - Very frequent	104
HP:0004363	HP:0002901	Hypocalcemia	1	VDR CL E G H	7421	12679	OMIM:277440	Vitamin d-dependent rickets, type 2A		104
HP:0004363	HP:0003072	Hypercalcemia	1	VHL CL E G H	7428	12687	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	490
HP:0004363	HP:0003072	Hypercalcemia	1	VHL CL E G H	7428	12687	OMIM:171300	PHEOCHROMOCYTOMA	.	490
HP:0004363	HP:0003072	Hypercalcemia	1	VHL CL E G H	7428	12687	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent	490
HP:0004363	HP:0003072	Hypercalcemia	1	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0004363	HP:0008250	Infantile hypercalcemia	2	CDC73 CL E G H	79577	16783	ORPHA:99879	Familial isolated hyperparathyroidism	HP:0040281 - Very frequent	169
HP:0004363	HP:0008250	Infantile hypercalcemia	2	CDC73 CL E G H	79577	16783	ORPHA:99880	Hyperparathyroidism-jaw tumor syndrome	HP:0040282 - Frequent	169
HP:0004363	HP:0008250	Infantile hypercalcemia	2	CDC73 CL E G H	79577	16783	ORPHA:143	Parathyroid carcinoma	HP:0040282 - Frequent	169
HP:0004363	HP:0003472	Hypocalcemic tetany	2	CTNS CL E G H	1497	2518	ORPHA:411634	Juvenile nephropathic cystinosis	HP:0040284 - Very rare	178
HP:0004363	HP:0008250	Infantile hypercalcemia	2	CYP24A1 CL E G H	1591	2602	OMIM:143880	Hypercalcemia, infantile, 1	.	73
HP:0004363	HP:0002199	Hypocalcemic seizures	2	CYP27B1 CL E G H	1594	2606	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets	HP:0040283 - Occasional	41
HP:0004363	HP:0002199	Hypocalcemic seizures	2	CYP27B1 CL E G H	1594	2606	OMIM:264700	Vitamin D hydroxylation-deficient rickets, type 1A	.	41
HP:0004363	HP:0002199	Hypocalcemic seizures	2	CYP2R1 CL E G H	120227	20580	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets	HP:0040283 - Occasional	5
HP:0004363	HP:0003472	Hypocalcemic tetany	2	FAM111A CL E G H	63901	24725	ORPHA:93325	Autosomal dominant Kenny-Caffey syndrome	HP:0040282 - Frequent	8
HP:0004363	HP:0002199	Hypocalcemic seizures	2	FAM111A CL E G H	63901	24725	ORPHA:93325	Autosomal dominant Kenny-Caffey syndrome	HP:0040282 - Frequent	8
HP:0004363	HP:0002199	Hypocalcemic seizures	2	GATA3 CL E G H	2625	4172	ORPHA:2237	Hypoparathyroidism-sensorineural deafness-renal disease syndrome	HP:0040282 - Frequent	83
HP:0004363	HP:0008250	Infantile hypercalcemia	2	GCM2 CL E G H	9247	4198	ORPHA:99879	Familial isolated hyperparathyroidism	HP:0040281 - Very frequent	51
HP:0004363	HP:0002199	Hypocalcemic seizures	2	GCM2 CL E G H	9247	4198	ORPHA:2239	Familial isolated hypoparathyroidism due to agenesis of parathyroid gland	HP:0040281 - Very frequent	51
HP:0004363	HP:0002199	Hypocalcemic seizures	2	GCM2 CL E G H	9247	4198	OMIM:618883	HYPOPARATHYROIDISM, FAMILIAL ISOLATED, 2; FIH2		51
HP:0004363	HP:0002199	Hypocalcemic seizures	2	GNAS CL E G H	2778	4392	ORPHA:79443	Pseudohypoparathyroidism type 1A	HP:0040284 - Very rare	101
HP:0004363	HP:0003472	Hypocalcemic tetany	2	GNAS CL E G H	2778	4392	ORPHA:79443	Pseudohypoparathyroidism type 1A	HP:0040283 - Occasional	101
HP:0004363	HP:0003472	Hypocalcemic tetany	2	GNAS CL E G H	2778	4392	ORPHA:94089	Pseudohypoparathyroidism type 1B	HP:0040283 - Occasional	101
HP:0004363	HP:0002199	Hypocalcemic seizures	2	GNAS CL E G H	2778	4392	ORPHA:94089	Pseudohypoparathyroidism type 1B	HP:0040284 - Very rare	101
HP:0004363	HP:0003472	Hypocalcemic tetany	2	GNAS CL E G H	2778	4392	ORPHA:79444	Pseudohypoparathyroidism type 1C	HP:0040283 - Occasional	101
HP:0004363	HP:0002199	Hypocalcemic seizures	2	GNAS CL E G H	2778	4392	ORPHA:79444	Pseudohypoparathyroidism type 1C	HP:0040284 - Very rare	101
HP:0004363	HP:0003472	Hypocalcemic tetany	2	GNAS CL E G H	2778	4392	OMIM:103580	Pseudohypoparathyroidism, type IA	.	101
HP:0004363	HP:0003472	Hypocalcemic tetany	2	GNAS CL E G H	2778	4392	OMIM:612462	Pseudohypoparathyroidism, type IC	.	101
HP:0004363	HP:0008250	Infantile hypercalcemia	2	MEN1 CL E G H	4221	7010	ORPHA:99879	Familial isolated hyperparathyroidism	HP:0040281 - Very frequent	462
HP:0004363	HP:0002199	Hypocalcemic seizures	2	PTH CL E G H	5741	9606	OMIM:146200	Hypoparathyroidism, familial isolated		16
HP:0004363	HP:0002199	Hypocalcemic seizures	2	STX16 CL E G H	8675	11431	ORPHA:94089	Pseudohypoparathyroidism type 1B	HP:0040284 - Very rare	86
HP:0004363	HP:0003472	Hypocalcemic tetany	2	STX16 CL E G H	8675	11431	ORPHA:94089	Pseudohypoparathyroidism type 1B	HP:0040283 - Occasional	86
HP:0004363	HP:0003472	Hypocalcemic tetany	2	TBCE CL E G H	6905	11582	ORPHA:93324	Autosomal recessive Kenny-Caffey syndrome	HP:0040282 - Frequent	52
HP:0004363	HP:0002199	Hypocalcemic seizures	2	TBCE CL E G H	6905	11582	ORPHA:93324	Autosomal recessive Kenny-Caffey syndrome	HP:0040281 - Very frequent	52
HP:0004363	HP:0002199	Hypocalcemic seizures	2	TBCE CL E G H	6905	11582	OMIM:241410	Hypoparathyroidism-Retardation-Dysmorphism syndrome	.	52
HP:0004363	HP:0002199	Hypocalcemic seizures	2	TNFRSF11A CL E G H	8792	11908	OMIM:612301	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7; OPTB7		72
HP:0004363	HP:0002199	Hypocalcemic seizures	2	VDR CL E G H	7421	12679	OMIM:277440	Vitamin d-dependent rickets, type 2A	.	104

Genes (139) :ACADVL ADAMTS3 ALG12 ALPL AP2S1 APC2 ARVCF BAZ1B BCL7B BTK BTNL2 BUD23 CA2 CACNA1C CAMKMT CASR CAV1 CCBE1 CCND1 CDC73 CDKN1A CDKN1B CDKN1C CDKN2B CDKN2C CHD7 CLCN7 CLCNKB CLIP2 COMT COX1 COX3 CSF1R CTNS CYP24A1 CYP27B1 CYP2R1 CYP3A4 DGCR2 DGCR6 DGCR8 DLST DNAJC30 DNMT3A EIF4H ELN EPAS1 ESS2 FAM111A FARSB FAT4 FGF23 FH FKBP6 FOCAD FOXP3 GATA3 GCM2 GEMIN4 GNA11 GNAS GNAS-AS1 GNB2 GP1BB GTF2I GTF2IRD1 GTF2IRD2 HADHA HADHB HIRA HLA-DQA1 HLA-DQB1 HLA-DRB1 IFT122 JMJD1C KIF1B KL LDHA LIMK1 LPIN1 MAX MDH2 MEN1 METTL27 MLXIPL NCF1 NF1 NOTCH3 NSD1 ORAI1 OSTM1 PDE4D PDGFRB PIGT PIK3C2A PLVAP PPM1B PREPL PRKAR1A PTH PTH1R RET RFC2 RMRP RREB1 RYR1 SDHA SDHAF2 SDHB SDHC SDHD SEC24C SETD2 SLC12A1 SLC12A3 SLC25A11 SLC34A1 SLC3A1 SLC4A1 SLC5A1 SNX10 STX16 STX1A TBCE TBL2 TBX1 TCIRG1 TMEM127 TMEM270 TNFRSF11A TNFSF11 TRIO TRPM6 UBR1 UFD1 USP53 VDR VHL VPS37D

Diseases (101) :ORPHA:26793 ORPHA:2136 OMIM:607143 OMIM:241500 OMIM:600740 ORPHA:821 ORPHA:567 ORPHA:904 ORPHA:47 ORPHA:797 ORPHA:2785 OMIM:601005 ORPHA:163693 ORPHA:428 OMIM:239200 OMIM:601198 OMIM:145980 OMIM:612526 ORPHA:29073 ORPHA:99879 OMIM:145000 OMIM:145001 ORPHA:99880 OMIM:608266 ORPHA:143 ORPHA:652 ORPHA:276152 OMIM:614732 OMIM:214800 ORPHA:53 ORPHA:667 ORPHA:358 ORPHA:99845 OMIM:618476 ORPHA:411634 OMIM:143880 ORPHA:289157 OMIM:264700 OMIM:619073 OMIM:192430 ORPHA:29072 ORPHA:276621 OMIM:194050 ORPHA:93325 OMIM:602361 OMIM:127000 OMIM:613658 ORPHA:89937 OMIM:619991 ORPHA:37042 ORPHA:2237 ORPHA:2239 OMIM:617343 OMIM:618883 OMIM:617913 OMIM:615361 OMIM:145981 ORPHA:79443 ORPHA:94089 ORPHA:79444 OMIM:103580 OMIM:603233 OMIM:612462 OMIM:619503 ORPHA:746 OMIM:212750 OMIM:218330 OMIM:171300 OMIM:617994 ORPHA:284426 OMIM:131100 ORPHA:2591 OMIM:615883 OMIM:259720 ORPHA:280651 ORPHA:369837 ORPHA:557003 OMIM:618440 OMIM:618183 OMIM:146200 OMIM:156400 ORPHA:175 ORPHA:466650 OMIM:601678 OMIM:616963 OMIM:179800 ORPHA:35710 ORPHA:93324 OMIM:241410 OMIM:244460 ORPHA:2323 OMIM:188400 OMIM:259700 OMIM:612301 OMIM:602080 ORPHA:476126 OMIM:602014 OMIM:243800 OMIM:619658 ORPHA:93160 OMIM:277440

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

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