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:
Abnormal tongue morphology (HP:0030809)

Parent Node:
Aplasia/Hypoplasia of the tongue (HP:0010295)

..Starting node
..Aglossia (HP:0012730)

Term ID:

12730

Name:

Aglossia

Synonym:

Absence of tongue; Failure of development of tongue; Missing tongue

Definition:

Absence of the tongue owing to a developmental abnormality.

Comments:

Reference:

HP:0012730

Genes and Diseases:

Child Nodes:

Sister Nodes:

Microglossia (HP:0000171)

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:0012730	HP:0012730	Aglossia	0	PRRX1 CL E G H	5396	9142	OMIM:202650	Agnathia-Otocephaly complex	.	4

Genes (1) :PRRX1

Diseases (1) :OMIM:202650

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