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 skull morphology (HP:0000929)

Parent Node:
Abnormal mastoid morphology (HP:0000264)

..Starting node
..Mastoiditis (HP:0000265)

Term ID:

265

Name:

Mastoiditis

Synonym:

Definition:

Comments:

Reference:

HP:0000265

Genes and Diseases:

Child Nodes:

Sister Nodes:

Absent mastoid (HP:0012761)

Advanced pneumatization of the mastoid process (HP:0010724)

Delayed pneumatization of the mastoid process (HP:0005906)

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:0000265	HP:0000265	Mastoiditis	0	NBN CL E G H	4683	7652	OMIM:251260	Nijmegen breakage syndrome	.	706
HP:0000265	HP:0000265	Mastoiditis	0	PAX1 CL E G H	5075	8615	OMIM:615560	Otofaciocervical syndrome 2	HP:0040283 - Occasional	3
HP:0000265	HP:0000265	Mastoiditis	0	RAG1 CL E G H	5896	9831	OMIM:601457	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive	.	127
HP:0000265	HP:0000265	Mastoiditis	0	RAG2 CL E G H	5897	9832	OMIM:601457	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive	.	50
HP:0000265	HP:0000265	Mastoiditis	0	SLC39A14 CL E G H	23516	20858	OMIM:144755	Hyperostosis cranialis interna	HP:0040284 - Very rare	5
HP:0000265	HP:0000265	Mastoiditis	0	TPP2 CL E G H	7174	12016	OMIM:619220	IMMUNODEFICIENCY 78 WITH AUTOIMMUNITY AND DEVELOPMENTAL DELAY; IMD78

Genes (6) :NBN PAX1 RAG1 RAG2 SLC39A14 TPP2

Diseases (5) :OMIM:251260 OMIM:615560 OMIM:601457 OMIM:144755 OMIM:619220

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