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 physiology (HP:0011767)

Parent Node:
Hypoparathyroidism (HP:0000829)

..Starting node
..Congenital hypoparathyroidism (HP:0008198)

Term ID:

8198

Name:

Congenital hypoparathyroidism

Synonym:

Neonatal hypoparathyroidism

Definition:

Deficiency of parathyroid hormone with congenital onset.

Comments:

Reference:

HP:0008198

Genes and Diseases:

Child Nodes:

Sister Nodes:

Autoimmune hypoparathyroidism (HP:0011771)

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:0008198	HP:0008198	Congenital hypoparathyroidism	0	FAM111A CL E G H	63901	24725	ORPHA:93325	Autosomal dominant Kenny-Caffey syndrome	HP:0040282 - Frequent	8
HP:0008198	HP:0008198	Congenital hypoparathyroidism	0	GCM2 CL E G H	9247	4198	ORPHA:2239	Familial isolated hypoparathyroidism due to agenesis of parathyroid gland	HP:0040280 - Obligate	51
HP:0008198	HP:0008198	Congenital hypoparathyroidism	0	TBCE CL E G H	6905	11582	ORPHA:93324	Autosomal recessive Kenny-Caffey syndrome	HP:0040281 - Very frequent	52
HP:0008198	HP:0008198	Congenital hypoparathyroidism	0	TBCE CL E G H	6905	11582	OMIM:241410	Hypoparathyroidism-Retardation-Dysmorphism syndrome	.	52
HP:0008198	HP:0008198	Congenital hypoparathyroidism	0	TBCE CL E G H	6905	11582	OMIM:244460	Kenny-caffey syndrome, type 1	.	52
HP:0008198	HP:0008198	Congenital hypoparathyroidism	0	TBCE CL E G H	6905	11582	ORPHA:2323	Sanjad-Sakati syndrome	HP:0040281 - Very frequent	52

Genes (3) :FAM111A GCM2 TBCE

Diseases (6) :ORPHA:93325 ORPHA:2239 ORPHA:93324 OMIM:241410 OMIM:244460 ORPHA:2323

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