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 nasopharyngeal adenoid morphology (HP:3000033)

Parent Node:
Abnormal size of nasopharyngeal adenoids (HP:0040257)

..Starting node
..Increased size of nasopharyngeal adenoids (HP:0040261)

Term ID:

40261

Name:

Increased size of nasopharyngeal adenoids

Synonym:

Adenoid hypertrophy; Adenoids large

Definition:

An abnormal increase in the size of nasopharyngeal adenoids.

Comments:

Reference:

HP:0040261

Genes and Diseases:

Child Nodes:

Sister Nodes:

Decreased size of nasopharyngeal adenoids (HP:0040260)

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:0040261	HP:0040261	Increased size of nasopharyngeal adenoids	0	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form	HP:0040282 - Frequent	86
HP:0040261	HP:0040261	Increased size of nasopharyngeal adenoids	0	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form	HP:0040282 - Frequent	86
HP:0040261	HP:0040261	Increased size of nasopharyngeal adenoids	0	RSPRY1 CL E G H	89970	29420	ORPHA:457395	Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome	HP:0040282 - Frequent	2
HP:0040261	HP:0040261	Increased size of nasopharyngeal adenoids	0	ZBTB7A CL E G H	51341	18078	OMIM:619769	MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN; MNDLFH

Genes (3) :IDS RSPRY1 ZBTB7A

Diseases (4) :ORPHA:217093 ORPHA:217085 ORPHA:457395 OMIM:619769

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