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 morphology (HP:0011766)

..Starting node
..Parathyroid dysgenesis (HP:0011768)

Term ID:

11768

Name:

Parathyroid dysgenesis

Synonym:

Definition:

Abnormal embryonic development of the parathyroid gland.

Comments:

Reference:

HP:0011768

Genes and Diseases:

Child Nodes:

........

Parathyroid hypoplasia (HP:0000860)

........

Parathyroid agenesis (HP:0008211)

........

Ectopic parathyroid (HP:0011769)

Sister Nodes:

Neoplasm of the parathyroid gland (HP:0100733)

Parathyroid hyperplasia (HP:0008208)

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:0011768	HP:0011768	Parathyroid dysgenesis	0	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome		515
HP:0011768	HP:0011768	Parathyroid dysgenesis	0	GATA3 CL E G H	2625	4172	ORPHA:2237	Hypoparathyroidism-sensorineural deafness-renal disease syndrome		83
HP:0011768	HP:0011768	Parathyroid dysgenesis	0	GCM2 CL E G H	9247	4198	ORPHA:2239	Familial isolated hypoparathyroidism due to agenesis of parathyroid gland		51
HP:0011768	HP:0011768	Parathyroid dysgenesis	0	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome		32
HP:0011768	HP:0011769	Ectopic parathyroid	1	CL E G H
HP:0011768	HP:0000860	Parathyroid hypoplasia	1	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome	.	515
HP:0011768	HP:0000860	Parathyroid hypoplasia	1	GATA3 CL E G H	2625	4172	ORPHA:2237	Hypoparathyroidism-sensorineural deafness-renal disease syndrome	HP:0040282 - Frequent	83
HP:0011768	HP:0008211	Parathyroid agenesis	1	GCM2 CL E G H	9247	4198	ORPHA:2239	Familial isolated hypoparathyroidism due to agenesis of parathyroid gland	HP:0040280 - Obligate	51
HP:0011768	HP:0008211	Parathyroid agenesis	1	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome		32
HP:0011768	HP:0000860	Parathyroid hypoplasia	1	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome	.	32

Genes (4) :CHD7 GATA3 GCM2 TBX1

Diseases (4) :OMIM:214800 ORPHA:2237 ORPHA:2239 OMIM:188400

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