Human Phenotype Ontology

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

Hello! Guest! Please Login or Register! Clinician Mode

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 lymphatic system (HP:0100763)

Parent Node:
Abnormal nasopharynx morphology (HP:0001739)

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

..Starting node
..Abnormal nasopharyngeal adenoid morphology (HP:3000033)

Term ID:

3000033

Name:

Abnormal nasopharyngeal adenoid morphology

Synonym:

Abnormality of adenoids; Abnormality of nasopharyngeal adenoids; Abnormality of nasopharyngeal tonsil; Abnormality of pharyngeal tonsil

Definition:

Any abnormality of nasopharyngeal adenoids.

Comments:

Reference:

HP:3000033

Genes and Diseases:

Child Nodes:

........

Adenoiditis (HP:0031458)

........

Aplastic/Hypoplastic nasopharyngeal adenoids (HP:0040256)

................... HP:0040258 Hypoplastic nasopharyngeal adenoids
................... HP:0040259 Aplastic nasopharyngeal adenoids

........

Abnormal size of nasopharyngeal adenoids (HP:0040257)

................... HP:0040260 Decreased size of nasopharyngeal adenoids
................... HP:0040261 Increased size of nasopharyngeal adenoids

Sister Nodes:

Abnormality of lingual tonsil (HP:3000076)

Absent tonsils (HP:0030813)

Enlarged tonsils (HP:0030812)

Orange discolored tonsils (HP:0030814)

Recurrent tonsillitis (HP:0011110)

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:3000033	HP:3000033	Abnormal nasopharyngeal adenoid morphology	0	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form		86
HP:3000033	HP:3000033	Abnormal nasopharyngeal adenoid morphology	0	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form		86
HP:3000033	HP:3000033	Abnormal nasopharyngeal adenoid morphology	0	RSPRY1 CL E G H	89970	29420	ORPHA:457395	Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome		2
HP:3000033	HP:3000033	Abnormal nasopharyngeal adenoid morphology	0	ZBTB7A CL E G H	51341	18078	OMIM:619769	MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN; MNDLFH
HP:3000033	HP:0040256	Aplastic/Hypoplastic nasopharyngeal adenoids	1	CL E G H
HP:3000033	HP:0031458	Adenoiditis	1	CL E G H
HP:3000033	HP:0040257	Abnormal size of nasopharyngeal adenoids	1	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form		86
HP:3000033	HP:0040257	Abnormal size of nasopharyngeal adenoids	1	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form		86
HP:3000033	HP:0040257	Abnormal size of nasopharyngeal adenoids	1	RSPRY1 CL E G H	89970	29420	ORPHA:457395	Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome		2
HP:3000033	HP:0040257	Abnormal size of nasopharyngeal adenoids	1	ZBTB7A CL E G H	51341	18078	OMIM:619769	MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN; MNDLFH
HP:3000033	HP:0040260	Decreased size of nasopharyngeal adenoids	2	CL E G H
HP:3000033	HP:0040259	Aplastic nasopharyngeal adenoids	2	CL E G H
HP:3000033	HP:0040258	Hypoplastic nasopharyngeal adenoids	2	CL E G H
HP:3000033	HP:0040261	Increased size of nasopharyngeal adenoids	2	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form	HP:0040282 - Frequent	86
HP:3000033	HP:0040261	Increased size of nasopharyngeal adenoids	2	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form	HP:0040282 - Frequent	86
HP:3000033	HP:0040261	Increased size of nasopharyngeal adenoids	2	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:3000033	HP:0040261	Increased size of nasopharyngeal adenoids	2	ZBTB7A CL E G H	51341	18078	OMIM:619769	MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN; MNDLFH
HP:3000033	HP:0040258	Hypoplastic nasopharyngeal adenoids	3	CL E G H

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.

Feedback about the webpages , or email to MSeqDR webmaster: Lishuang Shen