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 morphology (HP:0011766)

Parent Node:
Parathyroid dysgenesis (HP:0011768)

..Starting node
..Parathyroid hypoplasia (HP:0000860)

Term ID:

860

Name:

Parathyroid hypoplasia

Synonym:

Small parathyroid glands; Underdeveloped parathyroid glands

Definition:

Developmental hypoplasia of the parathyroid gland.

Comments:

Reference:

HP:0000860

Genes and Diseases:

Child Nodes:

Sister Nodes:

Ectopic parathyroid (HP:0011769)

Parathyroid agenesis (HP:0008211)

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:0000860	HP:0000860	Parathyroid hypoplasia	0	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome	.	515
HP:0000860	HP:0000860	Parathyroid hypoplasia	0	GATA3 CL E G H	2625	4172	ORPHA:2237	Hypoparathyroidism-sensorineural deafness-renal disease syndrome	HP:0040282 - Frequent	83
HP:0000860	HP:0000860	Parathyroid hypoplasia	0	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome	.	32

Genes (3) :CHD7 GATA3 TBX1

Diseases (3) :OMIM:214800 ORPHA:2237 OMIM:188400

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