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 thymus (HP:0000777)

Parent Node:
Aplasia/Hypoplasia of the thymus (HP:0010515)

..Starting node
..Aplasia of the thymus (HP:0005359)

Term ID:

5359

Name:

Aplasia of the thymus

Synonym:

Absent thymic shadow; Absent thymus; Athymia; Lack of thymic shadow

Definition:

Absence of the thymus. This feature may be appreciated by the lack of a thymic shadow upon radiographic examination.

Comments:

Reference:

HP:0005359

Genes and Diseases:

Child Nodes:

Sister Nodes:

Hypoplasia of the thymus (HP:0000778)

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:0005359	HP:0005359	Aplasia of the thymus	0	ADA CL E G H	100	186	OMIM:102700	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	.	75
HP:0005359	HP:0005359	Aplasia of the thymus	0	DCLRE1C CL E G H	64421	17642	OMIM:602450	Severe combined immunodeficiency with sensitivity to ionizing radiation	.	94

Genes (2) :ADA DCLRE1C

Diseases (2) :OMIM:102700 OMIM:602450

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