Human Phenotype Ontology

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

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 circulating calcium concentration (HP:0004363)

Parent Node:
obsolete Abnormal concentration of calcium in blood (HP:0040077)

..Starting node
..Hypocalcemia (HP:0002901)

Term ID:

2901

Name:

Hypocalcemia

Synonym:

Hypocalcaemia; Low blood calcium levels

Definition:

An abnormally decreased calcium concentration in the blood.

Comments:

Reference:

HP:0002901

Genes and Diseases:

Child Nodes:

........

Hypocalcemic seizures (HP:0002199)

........

Hypocalcemic tetany (HP:0003472)

Sister Nodes:

Hypercalcemia (HP:0003072)

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:0002901	HP:0002901	Hypocalcemia	0	ACADVL CL E G H	37	92	ORPHA:26793	Very long chain acyl-CoA dehydrogenase deficiency	HP:0040284 - Very rare	200
HP:0002901	HP:0002901	Hypocalcemia	0	ADAMTS3 CL E G H	9508	219	ORPHA:2136	Hennekam syndrome	HP:0040283 - Occasional	1
HP:0002901	HP:0002901	Hypocalcemia	0	ALG12 CL E G H	79087	19358	OMIM:607143	Congenital disorder of glycosylation, type Ig		68
HP:0002901	HP:0002901	Hypocalcemia	0	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent	1
HP:0002901	HP:0002901	Hypocalcemia	0	BTK CL E G H	695	1133	ORPHA:47	X-linked agammaglobulinemia	HP:0040282 - Frequent	109
HP:0002901	HP:0002901	Hypocalcemia	0	CA2 CL E G H	760	1373	ORPHA:2785	Osteopetrosis with renal tubular acidosis		29
HP:0002901	HP:0002901	Hypocalcemia	0	CACNA1C CL E G H	775	1390	OMIM:601005	Timothy syndrome	HP:0040283 - Occasional	572
HP:0002901	HP:0002901	Hypocalcemia	0	CAMKMT CL E G H	79823	26276	ORPHA:163693	2p21 microdeletion syndrome	HP:0040282 - Frequent	1
HP:0002901	HP:0002901	Hypocalcemia	0	CASR CL E G H	846	1514	ORPHA:428	Autosomal dominant hypocalcemia	HP:0040281 - Very frequent	272
HP:0002901	HP:0002901	Hypocalcemia	0	CASR CL E G H	846	1514	OMIM:601198	Hypocalcemia, autosomal dominant 1		272
HP:0002901	HP:0002901	Hypocalcemia	0	CAV1 CL E G H	857	1527	OMIM:612526	Lipodystrophy, congenital generalized, type 3		11
HP:0002901	HP:0002901	Hypocalcemia	0	CCBE1 CL E G H	147372	29426	ORPHA:2136	Hennekam syndrome	HP:0040283 - Occasional	147
HP:0002901	HP:0002901	Hypocalcemia	0	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome	.	515
HP:0002901	HP:0002901	Hypocalcemia	0	CLCN7 CL E G H	1186	2025	ORPHA:53	Albers-Schönberg osteopetrosis	HP:0040283 - Occasional	102
HP:0002901	HP:0002901	Hypocalcemia	0	CLCN7 CL E G H	1186	2025	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040283 - Occasional	102
HP:0002901	HP:0002901	Hypocalcemia	0	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome	HP:0040283 - Occasional	27
HP:0002901	HP:0002901	Hypocalcemia	0	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent	6
HP:0002901	HP:0002901	Hypocalcemia	0	COX1 CL E G H	4512	7419	ORPHA:99845	Genetic recurrent myoglobinuria
HP:0002901	HP:0002901	Hypocalcemia	0	COX3 CL E G H	4514	7422	ORPHA:99845	Genetic recurrent myoglobinuria
HP:0002901	HP:0002901	Hypocalcemia	0	CSF1R CL E G H	1436	2433	OMIM:618476	Brain abnormalities, neurodegeneration, and dysosteosclerosis	HP:0040284 - Very rare	149
HP:0002901	HP:0002901	Hypocalcemia	0	CTNS CL E G H	1497	2518	ORPHA:411634	Juvenile nephropathic cystinosis	HP:0040283 - Occasional	178
HP:0002901	HP:0002901	Hypocalcemia	0	CYP27B1 CL E G H	1594	2606	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets	HP:0040280 - Obligate	41
HP:0002901	HP:0002901	Hypocalcemia	0	CYP27B1 CL E G H	1594	2606	OMIM:264700	Vitamin D hydroxylation-deficient rickets, type 1A		41
HP:0002901	HP:0002901	Hypocalcemia	0	CYP2R1 CL E G H	120227	20580	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets	HP:0040280 - Obligate	5
HP:0002901	HP:0002901	Hypocalcemia	0	CYP3A4 CL E G H	1576	2637	OMIM:619073	VITAMIN D-DEPENDENT RICKETS, TYPE 3; VDDR3		2
HP:0002901	HP:0002901	Hypocalcemia	0	DGCR2 CL E G H	9993	2845	OMIM:192430	Velocardiofacial syndrome
HP:0002901	HP:0002901	Hypocalcemia	0	DGCR6 CL E G H	8214	2846	OMIM:192430	Velocardiofacial syndrome
HP:0002901	HP:0002901	Hypocalcemia	0	DGCR8 CL E G H	54487	2847	OMIM:192430	Velocardiofacial syndrome
HP:0002901	HP:0002901	Hypocalcemia	0	ESS2 CL E G H	8220	16817	OMIM:192430	Velocardiofacial syndrome
HP:0002901	HP:0002901	Hypocalcemia	0	FAM111A CL E G H	63901	24725	ORPHA:93325	Autosomal dominant Kenny-Caffey syndrome		8
HP:0002901	HP:0002901	Hypocalcemia	0	FAM111A CL E G H	63901	24725	OMIM:602361	Gracile bone dysplasia	.	8
HP:0002901	HP:0002901	Hypocalcemia	0	FAM111A CL E G H	63901	24725	OMIM:127000	Kenny-caffey syndrome, type 2	.	8
HP:0002901	HP:0002901	Hypocalcemia	0	FARSB CL E G H	10056	17800	OMIM:613658	Rajab interstitial lung disease with brain calcifications
HP:0002901	HP:0002901	Hypocalcemia	0	FAT4 CL E G H	79633	23109	ORPHA:2136	Hennekam syndrome	HP:0040283 - Occasional	114
HP:0002901	HP:0002901	Hypocalcemia	0	FGF23 CL E G H	8074	3680	ORPHA:89937	Autosomal dominant hypophosphatemic rickets	HP:0040284 - Very rare	51
HP:0002901	HP:0002901	Hypocalcemia	0	FOCAD CL E G H	54914	23377	OMIM:619991			3
HP:0002901	HP:0002901	Hypocalcemia	0	FOXP3 CL E G H	50943	6106	ORPHA:37042	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome	HP:0040283 - Occasional	32
HP:0002901	HP:0002901	Hypocalcemia	0	GATA3 CL E G H	2625	4172	ORPHA:2237	Hypoparathyroidism-sensorineural deafness-renal disease syndrome	HP:0040282 - Frequent	83
HP:0002901	HP:0002901	Hypocalcemia	0	GCM2 CL E G H	9247	4198	ORPHA:2239	Familial isolated hypoparathyroidism due to agenesis of parathyroid gland	HP:0040280 - Obligate	51
HP:0002901	HP:0002901	Hypocalcemia	0	GCM2 CL E G H	9247	4198	OMIM:618883	HYPOPARATHYROIDISM, FAMILIAL ISOLATED, 2; FIH2		51
HP:0002901	HP:0002901	Hypocalcemia	0	GEMIN4 CL E G H	50628	15717	OMIM:617913	Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities		1
HP:0002901	HP:0002901	Hypocalcemia	0	GNA11 CL E G H	2767	4379	ORPHA:428	Autosomal dominant hypocalcemia	HP:0040281 - Very frequent	16
HP:0002901	HP:0002901	Hypocalcemia	0	GNA11 CL E G H	2767	4379	OMIM:615361	Hypocalcemia, autosomal dominant 2	.	16
HP:0002901	HP:0002901	Hypocalcemia	0	GNAS CL E G H	2778	4392	ORPHA:79443	Pseudohypoparathyroidism type 1A	HP:0040281 - Very frequent	101
HP:0002901	HP:0002901	Hypocalcemia	0	GNAS CL E G H	2778	4392	ORPHA:94089	Pseudohypoparathyroidism type 1B	HP:0040281 - Very frequent	101
HP:0002901	HP:0002901	Hypocalcemia	0	GNAS CL E G H	2778	4392	ORPHA:79444	Pseudohypoparathyroidism type 1C	HP:0040281 - Very frequent	101
HP:0002901	HP:0002901	Hypocalcemia	0	GNAS CL E G H	2778	4392	OMIM:103580	Pseudohypoparathyroidism, type IA		101
HP:0002901	HP:0002901	Hypocalcemia	0	GNAS CL E G H	2778	4392	OMIM:603233	Pseudohypoparathyroidism, type IB	.	101
HP:0002901	HP:0002901	Hypocalcemia	0	GNAS CL E G H	2778	4392	OMIM:612462	Pseudohypoparathyroidism, type IC		101
HP:0002901	HP:0002901	Hypocalcemia	0	GNAS-AS1 CL E G H	149775	24872	OMIM:603233	Pseudohypoparathyroidism, type IB	.	1
HP:0002901	HP:0002901	Hypocalcemia	0	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0002901	HP:0002901	Hypocalcemia	0	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent	8
HP:0002901	HP:0002901	Hypocalcemia	0	HADHA CL E G H	3030	4801	ORPHA:746	Mitochondrial trifunctional protein deficiency	HP:0040282 - Frequent	99
HP:0002901	HP:0002901	Hypocalcemia	0	HADHB CL E G H	3032	4803	ORPHA:746	Mitochondrial trifunctional protein deficiency	HP:0040282 - Frequent	60
HP:0002901	HP:0002901	Hypocalcemia	0	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent	3
HP:0002901	HP:0002901	Hypocalcemia	0	HLA-DQA1 CL E G H	3117	4942	OMIM:212750	Celiac disease, susceptibility to, 1	.
HP:0002901	HP:0002901	Hypocalcemia	0	HLA-DQB1 CL E G H	3119	4944	OMIM:212750	Celiac disease, susceptibility to, 1	.
HP:0002901	HP:0002901	Hypocalcemia	0	IFT122 CL E G H	55764	13556	OMIM:218330	Cranioectodermal dysplasia	.	93
HP:0002901	HP:0002901	Hypocalcemia	0	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent	2
HP:0002901	HP:0002901	Hypocalcemia	0	LPIN1 CL E G H	23175	13345	ORPHA:99845	Genetic recurrent myoglobinuria		95
HP:0002901	HP:0002901	Hypocalcemia	0	ORAI1 CL E G H	84876	25896	OMIM:615883	Myopathy, tubular aggregate, 2	.	19
HP:0002901	HP:0002901	Hypocalcemia	0	OSTM1 CL E G H	28962	21652	OMIM:259720	Osteopetrosis, autosomal recessive 5	.	73
HP:0002901	HP:0002901	Hypocalcemia	0	PDE4D CL E G H	5144	8783	ORPHA:280651	Acrodysostosis with multiple hormone resistance	HP:0040281 - Very frequent	113
HP:0002901	HP:0002901	Hypocalcemia	0	PIK3C2A CL E G H	5286	8971	ORPHA:557003	Oculocerebrodental syndrome	HP:0040283 - Occasional
HP:0002901	HP:0002901	Hypocalcemia	0	PIK3C2A CL E G H	5286	8971	OMIM:618440	Oculoskeletodental syndrome	.
HP:0002901	HP:0002901	Hypocalcemia	0	PLVAP CL E G H	83483	13635	OMIM:618183	Diarrhea 10, protein-losing Enteropathy type	.
HP:0002901	HP:0002901	Hypocalcemia	0	PPM1B CL E G H	5495	9276	ORPHA:163693	2p21 microdeletion syndrome	HP:0040282 - Frequent
HP:0002901	HP:0002901	Hypocalcemia	0	PREPL CL E G H	9581	30228	ORPHA:163693	2p21 microdeletion syndrome	HP:0040282 - Frequent	7
HP:0002901	HP:0002901	Hypocalcemia	0	PRKAR1A CL E G H	5573	9388	ORPHA:280651	Acrodysostosis with multiple hormone resistance	HP:0040281 - Very frequent	134
HP:0002901	HP:0002901	Hypocalcemia	0	PTH CL E G H	5741	9606	OMIM:146200	Hypoparathyroidism, familial isolated	.	16
HP:0002901	HP:0002901	Hypocalcemia	0	RMRP CL E G H	6023	10031	ORPHA:175	Cartilage-hair hypoplasia	HP:0040281 - Very frequent	37
HP:0002901	HP:0002901	Hypocalcemia	0	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent
HP:0002901	HP:0002901	Hypocalcemia	0	RYR1 CL E G H	6261	10483	ORPHA:466650	Exercise-induced malignant hyperthermia	HP:0040283 - Occasional	1200
HP:0002901	HP:0002901	Hypocalcemia	0	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent
HP:0002901	HP:0002901	Hypocalcemia	0	SLC12A3 CL E G H	6559	10912	ORPHA:358	Gitelman syndrome	HP:0040283 - Occasional	145
HP:0002901	HP:0002901	Hypocalcemia	0	SLC3A1 CL E G H	6519	11025	ORPHA:163693	2p21 microdeletion syndrome	HP:0040282 - Frequent	55
HP:0002901	HP:0002901	Hypocalcemia	0	SLC4A1 CL E G H	6521	11027	OMIM:179800	Renal tubular acidosis, distal, autosomal dominant	.	109
HP:0002901	HP:0002901	Hypocalcemia	0	SNX10 CL E G H	29887	14974	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040283 - Occasional	2
HP:0002901	HP:0002901	Hypocalcemia	0	STX16 CL E G H	8675	11431	ORPHA:94089	Pseudohypoparathyroidism type 1B	HP:0040281 - Very frequent	86
HP:0002901	HP:0002901	Hypocalcemia	0	STX16 CL E G H	8675	11431	OMIM:603233	Pseudohypoparathyroidism, type IB	.	86
HP:0002901	HP:0002901	Hypocalcemia	0	TBCE CL E G H	6905	11582	ORPHA:93324	Autosomal recessive Kenny-Caffey syndrome	HP:0040281 - Very frequent	52
HP:0002901	HP:0002901	Hypocalcemia	0	TBCE CL E G H	6905	11582	OMIM:241410	Hypoparathyroidism-Retardation-Dysmorphism syndrome	.	52
HP:0002901	HP:0002901	Hypocalcemia	0	TBCE CL E G H	6905	11582	OMIM:244460	Kenny-caffey syndrome, type 1	.	52
HP:0002901	HP:0002901	Hypocalcemia	0	TBCE CL E G H	6905	11582	ORPHA:2323	Sanjad-Sakati syndrome	HP:0040281 - Very frequent	52
HP:0002901	HP:0002901	Hypocalcemia	0	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent	32
HP:0002901	HP:0002901	Hypocalcemia	0	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome	.	32
HP:0002901	HP:0002901	Hypocalcemia	0	TBX1 CL E G H	6899	11592	OMIM:192430	Velocardiofacial syndrome		32
HP:0002901	HP:0002901	Hypocalcemia	0	TCIRG1 CL E G H	10312	11647	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040283 - Occasional	82
HP:0002901	HP:0002901	Hypocalcemia	0	TCIRG1 CL E G H	10312	11647	OMIM:259700	Osteopetrosis, autosomal recessive 1		82
HP:0002901	HP:0002901	Hypocalcemia	0	TNFRSF11A CL E G H	8792	11908	OMIM:612301	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7; OPTB7		72
HP:0002901	HP:0002901	Hypocalcemia	0	TNFSF11 CL E G H	8600	11926	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040283 - Occasional	44
HP:0002901	HP:0002901	Hypocalcemia	0	TRPM6 CL E G H	140803	17995	OMIM:602014	Hypomagnesemia 1, intestinal	.	85
HP:0002901	HP:0002901	Hypocalcemia	0	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome	.	25
HP:0002901	HP:0002901	Hypocalcemia	0	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent
HP:0002901	HP:0002901	Hypocalcemia	0	USP53 CL E G H	54532	29255	OMIM:619658	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 7, WITH OR WITHOUT HEARING LOSS; PFIC7
HP:0002901	HP:0002901	Hypocalcemia	0	VDR CL E G H	7421	12679	ORPHA:93160	Hypocalcemic vitamin D-resistant rickets	HP:0040281 - Very frequent	104
HP:0002901	HP:0002901	Hypocalcemia	0	VDR CL E G H	7421	12679	OMIM:277440	Vitamin d-dependent rickets, type 2A		104
HP:0002901	HP:0003472	Hypocalcemic tetany	1	CTNS CL E G H	1497	2518	ORPHA:411634	Juvenile nephropathic cystinosis	HP:0040284 - Very rare	178
HP:0002901	HP:0002199	Hypocalcemic seizures	1	CYP27B1 CL E G H	1594	2606	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets	HP:0040283 - Occasional	41
HP:0002901	HP:0002199	Hypocalcemic seizures	1	CYP27B1 CL E G H	1594	2606	OMIM:264700	Vitamin D hydroxylation-deficient rickets, type 1A	.	41
HP:0002901	HP:0002199	Hypocalcemic seizures	1	CYP2R1 CL E G H	120227	20580	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets	HP:0040283 - Occasional	5
HP:0002901	HP:0003472	Hypocalcemic tetany	1	FAM111A CL E G H	63901	24725	ORPHA:93325	Autosomal dominant Kenny-Caffey syndrome	HP:0040282 - Frequent	8
HP:0002901	HP:0002199	Hypocalcemic seizures	1	FAM111A CL E G H	63901	24725	ORPHA:93325	Autosomal dominant Kenny-Caffey syndrome	HP:0040282 - Frequent	8
HP:0002901	HP:0002199	Hypocalcemic seizures	1	GATA3 CL E G H	2625	4172	ORPHA:2237	Hypoparathyroidism-sensorineural deafness-renal disease syndrome	HP:0040282 - Frequent	83
HP:0002901	HP:0002199	Hypocalcemic seizures	1	GCM2 CL E G H	9247	4198	ORPHA:2239	Familial isolated hypoparathyroidism due to agenesis of parathyroid gland	HP:0040281 - Very frequent	51
HP:0002901	HP:0002199	Hypocalcemic seizures	1	GCM2 CL E G H	9247	4198	OMIM:618883	HYPOPARATHYROIDISM, FAMILIAL ISOLATED, 2; FIH2		51
HP:0002901	HP:0002199	Hypocalcemic seizures	1	GNAS CL E G H	2778	4392	ORPHA:79443	Pseudohypoparathyroidism type 1A	HP:0040284 - Very rare	101
HP:0002901	HP:0003472	Hypocalcemic tetany	1	GNAS CL E G H	2778	4392	ORPHA:79443	Pseudohypoparathyroidism type 1A	HP:0040283 - Occasional	101
HP:0002901	HP:0003472	Hypocalcemic tetany	1	GNAS CL E G H	2778	4392	ORPHA:94089	Pseudohypoparathyroidism type 1B	HP:0040283 - Occasional	101
HP:0002901	HP:0002199	Hypocalcemic seizures	1	GNAS CL E G H	2778	4392	ORPHA:94089	Pseudohypoparathyroidism type 1B	HP:0040284 - Very rare	101
HP:0002901	HP:0003472	Hypocalcemic tetany	1	GNAS CL E G H	2778	4392	ORPHA:79444	Pseudohypoparathyroidism type 1C	HP:0040283 - Occasional	101
HP:0002901	HP:0002199	Hypocalcemic seizures	1	GNAS CL E G H	2778	4392	ORPHA:79444	Pseudohypoparathyroidism type 1C	HP:0040284 - Very rare	101
HP:0002901	HP:0003472	Hypocalcemic tetany	1	GNAS CL E G H	2778	4392	OMIM:103580	Pseudohypoparathyroidism, type IA	.	101
HP:0002901	HP:0003472	Hypocalcemic tetany	1	GNAS CL E G H	2778	4392	OMIM:612462	Pseudohypoparathyroidism, type IC	.	101
HP:0002901	HP:0002199	Hypocalcemic seizures	1	PTH CL E G H	5741	9606	OMIM:146200	Hypoparathyroidism, familial isolated		16
HP:0002901	HP:0003472	Hypocalcemic tetany	1	STX16 CL E G H	8675	11431	ORPHA:94089	Pseudohypoparathyroidism type 1B	HP:0040283 - Occasional	86
HP:0002901	HP:0002199	Hypocalcemic seizures	1	STX16 CL E G H	8675	11431	ORPHA:94089	Pseudohypoparathyroidism type 1B	HP:0040284 - Very rare	86
HP:0002901	HP:0002199	Hypocalcemic seizures	1	TBCE CL E G H	6905	11582	ORPHA:93324	Autosomal recessive Kenny-Caffey syndrome	HP:0040281 - Very frequent	52
HP:0002901	HP:0003472	Hypocalcemic tetany	1	TBCE CL E G H	6905	11582	ORPHA:93324	Autosomal recessive Kenny-Caffey syndrome	HP:0040282 - Frequent	52
HP:0002901	HP:0002199	Hypocalcemic seizures	1	TBCE CL E G H	6905	11582	OMIM:241410	Hypoparathyroidism-Retardation-Dysmorphism syndrome	.	52
HP:0002901	HP:0002199	Hypocalcemic seizures	1	TNFRSF11A CL E G H	8792	11908	OMIM:612301	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7; OPTB7		72
HP:0002901	HP:0002199	Hypocalcemic seizures	1	VDR CL E G H	7421	12679	OMIM:277440	Vitamin d-dependent rickets, type 2A	.	104

Genes (76) :ACADVL ADAMTS3 ALG12 ARVCF BTK CA2 CACNA1C CAMKMT CASR CAV1 CCBE1 CHD7 CLCN7 CLCNKB COMT COX1 COX3 CSF1R CTNS CYP27B1 CYP2R1 CYP3A4 DGCR2 DGCR6 DGCR8 ESS2 FAM111A FARSB FAT4 FGF23 FOCAD FOXP3 GATA3 GCM2 GEMIN4 GNA11 GNAS GNAS-AS1 GNB2 GP1BB HADHA HADHB HIRA HLA-DQA1 HLA-DQB1 IFT122 JMJD1C LPIN1 ORAI1 OSTM1 PDE4D PIK3C2A PLVAP PPM1B PREPL PRKAR1A PTH RMRP RREB1 RYR1 SEC24C SLC12A3 SLC3A1 SLC4A1 SNX10 STX16 TBCE TBX1 TCIRG1 TNFRSF11A TNFSF11 TRPM6 UBR1 UFD1 USP53 VDR

Diseases (66) :ORPHA:26793 ORPHA:2136 OMIM:607143 ORPHA:567 ORPHA:47 ORPHA:2785 OMIM:601005 ORPHA:163693 ORPHA:428 OMIM:601198 OMIM:612526 OMIM:214800 ORPHA:53 ORPHA:667 ORPHA:358 ORPHA:99845 OMIM:618476 ORPHA:411634 ORPHA:289157 OMIM:264700 OMIM:619073 OMIM:192430 ORPHA:93325 OMIM:602361 OMIM:127000 OMIM:613658 ORPHA:89937 OMIM:619991 ORPHA:37042 ORPHA:2237 ORPHA:2239 OMIM:618883 OMIM:617913 OMIM:615361 ORPHA:79443 ORPHA:94089 ORPHA:79444 OMIM:103580 OMIM:603233 OMIM:612462 OMIM:619503 ORPHA:746 OMIM:212750 OMIM:218330 OMIM:615883 OMIM:259720 ORPHA:280651 ORPHA:557003 OMIM:618440 OMIM:618183 OMIM:146200 ORPHA:175 ORPHA:466650 OMIM:179800 ORPHA:93324 OMIM:241410 OMIM:244460 ORPHA:2323 OMIM:188400 OMIM:259700 OMIM:612301 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.

Feedback about the webpages , or email to MSeqDR webmaster: Lishuang Shen