Human Phenotype Ontology

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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:
Abnormality of the parathyroid gland (HP:0000828)

Parent Node:
Abnormality of the parathyroid physiology (HP:0011767)

..Starting node
..Hypoparathyroidism (HP:0000829)

Term ID:

829

Name:

Hypoparathyroidism

Synonym:

Decreased parathyroid hormone secretion; Low parathyroid hormone

Definition:

A condition caused by a deficiency of parathyroid hormone characterized by hypocalcemia and hyperphosphatemia.

Comments:

Reference:

HP:0000829

Genes and Diseases:

Child Nodes:

........

Congenital hypoparathyroidism (HP:0008198)

........

Autoimmune hypoparathyroidism (HP:0011771)

Sister Nodes:

Hyperparathyroidism (HP:0000843)

Pseudohypoparathyroidism (HP:0000852)

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:0000829	HP:0000829	Hypoparathyroidism	0	AIRE CL E G H	326	360	OMIM:240300	AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1		92
HP:0000829	HP:0000829	Hypoparathyroidism	0	AIRE CL E G H	326	360	ORPHA:3453	Autoimmune polyendocrinopathy type 1	HP:0040281 - Very frequent	92
HP:0000829	HP:0000829	Hypoparathyroidism	0	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent	1
HP:0000829	HP:0000829	Hypoparathyroidism	0	ATP7B CL E G H	540	870	OMIM:277900	Wilson disease	.	315
HP:0000829	HP:0000829	Hypoparathyroidism	0	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome		515
HP:0000829	HP:0000829	Hypoparathyroidism	0	COL4A5 CL E G H	1287	2207	OMIM:301050	Alport syndrome, X-linked	.	678
HP:0000829	HP:0000829	Hypoparathyroidism	0	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent	6
HP:0000829	HP:0000829	Hypoparathyroidism	0	COX1 CL E G H	4512	7419	ORPHA:550	MELAS	HP:0040284 - Very rare
HP:0000829	HP:0000829	Hypoparathyroidism	0	COX2 CL E G H	4513	7421	ORPHA:550	MELAS	HP:0040284 - Very rare
HP:0000829	HP:0000829	Hypoparathyroidism	0	COX3 CL E G H	4514	7422	ORPHA:550	MELAS	HP:0040284 - Very rare
HP:0000829	HP:0000829	Hypoparathyroidism	0	DGCR2 CL E G H	9993	2845	OMIM:192430	Velocardiofacial syndrome
HP:0000829	HP:0000829	Hypoparathyroidism	0	DGCR6 CL E G H	8214	2846	OMIM:192430	Velocardiofacial syndrome
HP:0000829	HP:0000829	Hypoparathyroidism	0	DGCR8 CL E G H	54487	2847	OMIM:192430	Velocardiofacial syndrome
HP:0000829	HP:0000829	Hypoparathyroidism	0	ESS2 CL E G H	8220	16817	OMIM:192430	Velocardiofacial syndrome
HP:0000829	HP:0000829	Hypoparathyroidism	0	FAM111A CL E G H	63901	24725	ORPHA:93325	Autosomal dominant Kenny-Caffey syndrome		8
HP:0000829	HP:0000829	Hypoparathyroidism	0	FAM111A CL E G H	63901	24725	OMIM:127000	Kenny-caffey syndrome, type 2	.	8
HP:0000829	HP:0000829	Hypoparathyroidism	0	GATA3 CL E G H	2625	4172	OMIM:146255	Hypoparathyroidism, sensorineural deafness, and renal dysplasia		83
HP:0000829	HP:0000829	Hypoparathyroidism	0	GATA3 CL E G H	2625	4172	ORPHA:2237	Hypoparathyroidism-sensorineural deafness-renal disease syndrome	HP:0040280 - Obligate	83
HP:0000829	HP:0000829	Hypoparathyroidism	0	GCM2 CL E G H	9247	4198	ORPHA:2239	Familial isolated hypoparathyroidism due to agenesis of parathyroid gland		51
HP:0000829	HP:0000829	Hypoparathyroidism	0	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent	8
HP:0000829	HP:0000829	Hypoparathyroidism	0	HADHA CL E G H	3030	4801	ORPHA:746	Mitochondrial trifunctional protein deficiency	HP:0040283 - Occasional	99
HP:0000829	HP:0000829	Hypoparathyroidism	0	HADHB CL E G H	3032	4803	ORPHA:746	Mitochondrial trifunctional protein deficiency	HP:0040283 - Occasional	60
HP:0000829	HP:0000829	Hypoparathyroidism	0	HBB CL E G H	3043	4827	ORPHA:231222	Beta-thalassemia intermedia	HP:0040284 - Very rare	580
HP:0000829	HP:0000829	Hypoparathyroidism	0	HBB CL E G H	3043	4827	ORPHA:231214	Beta-thalassemia major	HP:0040283 - Occasional	580
HP:0000829	HP:0000829	Hypoparathyroidism	0	HBB CL E G H	3043	4827	ORPHA:231226	Dominant beta-thalassemia	HP:0040283 - Occasional	580
HP:0000829	HP:0000829	Hypoparathyroidism	0	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent	3
HP:0000829	HP:0000829	Hypoparathyroidism	0	IRX5 CL E G H	10265	14361	OMIM:611174	Hamamy syndrome	.	4
HP:0000829	HP:0000829	Hypoparathyroidism	0	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent	2
HP:0000829	HP:0000829	Hypoparathyroidism	0	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome	HP:0040283 - Occasional	88
HP:0000829	HP:0000829	Hypoparathyroidism	0	ND1 CL E G H	4535	7455	ORPHA:550	MELAS	HP:0040284 - Very rare
HP:0000829	HP:0000829	Hypoparathyroidism	0	ND4 CL E G H	4538	7459	ORPHA:550	MELAS	HP:0040284 - Very rare
HP:0000829	HP:0000829	Hypoparathyroidism	0	ND5 CL E G H	4540	7461	ORPHA:550	MELAS	HP:0040284 - Very rare
HP:0000829	HP:0000829	Hypoparathyroidism	0	ND6 CL E G H	4541	7462	ORPHA:550	MELAS	HP:0040284 - Very rare
HP:0000829	HP:0000829	Hypoparathyroidism	0	NKX2-1 CL E G H	7080	11825	ORPHA:209905	Brain-lung-thyroid syndrome	HP:0040284 - Very rare	51
HP:0000829	HP:0000829	Hypoparathyroidism	0	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome	HP:0040283 - Occasional	84
HP:0000829	HP:0000829	Hypoparathyroidism	0	PIGT CL E G H	51604	14938	ORPHA:369837	Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome	HP:0040283 - Occasional	12
HP:0000829	HP:0000829	Hypoparathyroidism	0	PTH CL E G H	5741	9606	OMIM:146200	Hypoparathyroidism, familial isolated		16
HP:0000829	HP:0000829	Hypoparathyroidism	0	PTH1R CL E G H	5745	9608	OMIM:156400	Metaphyseal chondrodysplasia, Jansen type	.	58
HP:0000829	HP:0000829	Hypoparathyroidism	0	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent
HP:0000829	HP:0000829	Hypoparathyroidism	0	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent
HP:0000829	HP:0000829	Hypoparathyroidism	0	TBCE CL E G H	6905	11582	ORPHA:93324	Autosomal recessive Kenny-Caffey syndrome		52
HP:0000829	HP:0000829	Hypoparathyroidism	0	TBCE CL E G H	6905	11582	OMIM:241410	Hypoparathyroidism-Retardation-Dysmorphism syndrome		52
HP:0000829	HP:0000829	Hypoparathyroidism	0	TBCE CL E G H	6905	11582	OMIM:244460	Kenny-caffey syndrome, type 1		52
HP:0000829	HP:0000829	Hypoparathyroidism	0	TBCE CL E G H	6905	11582	ORPHA:2323	Sanjad-Sakati syndrome	HP:0040281 - Very frequent	52
HP:0000829	HP:0000829	Hypoparathyroidism	0	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent	32
HP:0000829	HP:0000829	Hypoparathyroidism	0	TBX1 CL E G H	6899	11592	OMIM:192430	Velocardiofacial syndrome		32
HP:0000829	HP:0000829	Hypoparathyroidism	0	TBX2 CL E G H	6909	11597	OMIM:618223	VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION	.
HP:0000829	HP:0000829	Hypoparathyroidism	0	TRNF CL E G H	4558	7481	ORPHA:550	MELAS	HP:0040284 - Very rare
HP:0000829	HP:0000829	Hypoparathyroidism	0	TRNH CL E G H	4564	7487	ORPHA:550	MELAS	HP:0040284 - Very rare
HP:0000829	HP:0000829	Hypoparathyroidism	0	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS	HP:0040284 - Very rare
HP:0000829	HP:0000829	Hypoparathyroidism	0	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS	HP:0040284 - Very rare
HP:0000829	HP:0000829	Hypoparathyroidism	0	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS	HP:0040284 - Very rare
HP:0000829	HP:0000829	Hypoparathyroidism	0	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS	HP:0040284 - Very rare
HP:0000829	HP:0000829	Hypoparathyroidism	0	TRNW CL E G H	4578	7501	ORPHA:550	MELAS	HP:0040284 - Very rare
HP:0000829	HP:0000829	Hypoparathyroidism	0	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent
HP:0000829	HP:0011771	Autoimmune hypoparathyroidism	1	CL E G H
HP:0000829	HP:0008198	Congenital hypoparathyroidism	1	FAM111A CL E G H	63901	24725	ORPHA:93325	Autosomal dominant Kenny-Caffey syndrome	HP:0040282 - Frequent	8
HP:0000829	HP:0008198	Congenital hypoparathyroidism	1	GCM2 CL E G H	9247	4198	ORPHA:2239	Familial isolated hypoparathyroidism due to agenesis of parathyroid gland	HP:0040280 - Obligate	51
HP:0000829	HP:0008198	Congenital hypoparathyroidism	1	TBCE CL E G H	6905	11582	ORPHA:93324	Autosomal recessive Kenny-Caffey syndrome	HP:0040281 - Very frequent	52
HP:0000829	HP:0008198	Congenital hypoparathyroidism	1	TBCE CL E G H	6905	11582	OMIM:241410	Hypoparathyroidism-Retardation-Dysmorphism syndrome	.	52
HP:0000829	HP:0008198	Congenital hypoparathyroidism	1	TBCE CL E G H	6905	11582	OMIM:244460	Kenny-caffey syndrome, type 1	.	52
HP:0000829	HP:0008198	Congenital hypoparathyroidism	1	TBCE CL E G H	6905	11582	ORPHA:2323	Sanjad-Sakati syndrome	HP:0040281 - Very frequent	52

Genes (46) :AIRE ARVCF ATP7B CHD7 COL4A5 COMT COX1 COX2 COX3 DGCR2 DGCR6 DGCR8 ESS2 FAM111A GATA3 GCM2 GP1BB HADHA HADHB HBB HIRA IRX5 JMJD1C LIG4 ND1 ND4 ND5 ND6 NKX2-1 NSUN2 PIGT PTH PTH1R RREB1 SEC24C TBCE TBX1 TBX2 TRNF TRNH TRNL1 TRNQ TRNS1 TRNS2 TRNW UFD1

Diseases (28) :OMIM:240300 ORPHA:3453 ORPHA:567 OMIM:277900 OMIM:214800 OMIM:301050 ORPHA:550 OMIM:192430 ORPHA:93325 OMIM:127000 OMIM:146255 ORPHA:2237 ORPHA:2239 ORPHA:746 ORPHA:231222 ORPHA:231214 ORPHA:231226 OMIM:611174 ORPHA:235 ORPHA:209905 ORPHA:369837 OMIM:146200 OMIM:156400 ORPHA:93324 OMIM:241410 OMIM:244460 ORPHA:2323 OMIM:618223

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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