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 nasopharynx morphology (HP:0001739)

Grandparent Node:
Abnormality of the tonsils (HP:0100765)

Parent Node:
Abnormal nasopharyngeal adenoid morphology (HP:3000033)

..Starting node
..Aplastic/Hypoplastic nasopharyngeal adenoids (HP:0040256)

Term ID:

40256

Name:

Aplastic/Hypoplastic nasopharyngeal adenoids

Synonym:

Adenoids small or absent

Definition:

Absence or underdevelopment of the nasopharyngeal adenoids.

Comments:

Reference:

HP:0040256

Genes and Diseases:

Child Nodes:

........

Hypoplastic nasopharyngeal adenoids (HP:0040258)

........

Aplastic nasopharyngeal adenoids (HP:0040259)

Sister Nodes:

Abnormal size of nasopharyngeal adenoids (HP:0040257)

Adenoiditis (HP:0031458)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0040256	HP:0040256	Aplastic/Hypoplastic nasopharyngeal adenoids	0	CL E G H
HP:0040256	HP:0040259	Aplastic nasopharyngeal adenoids	1	CL E G H
HP:0040256	HP:0040258	Hypoplastic nasopharyngeal adenoids	1	CL E G H

Genes (0) :

Diseases (0) :

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