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 agenesis (HP:0008211)

Term ID:

8211

Name:

Parathyroid agenesis

Synonym:

Parathyroid absence; Parathyroid aplasia

Definition:

Aplasia of the parathyroid gland.

Comments:

Reference:

HP:0008211

Genes and Diseases:

Child Nodes:

Sister Nodes:

Ectopic parathyroid (HP:0011769)

Parathyroid hypoplasia (HP:0000860)

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:0008211	HP:0008211	Parathyroid agenesis	0	GCM2 CL E G H	9247	4198	ORPHA:2239	Familial isolated hypoparathyroidism due to agenesis of parathyroid gland	HP:0040280 - Obligate	51
HP:0008211	HP:0008211	Parathyroid agenesis	0	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome		32

Genes (2) :GCM2 TBX1

Diseases (2) :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.