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:
Morphological abnormality of the middle ear (HP:0008609)

Parent Node:
Abnormality of the middle ear ossicles (HP:0004452)

..Starting node
..Abnormality of the malleus (HP:0011454)

Term ID:

11454

Name:

Abnormality of the malleus

Synonym:

Definition:

An abnormality of the malleus, an ossicle in the middle ear.

Comments:

Reference:

HP:0011454

Genes and Diseases:

Child Nodes:

........

Absent malleus (HP:0011455)

Sister Nodes:

Abnormality of the incus (HP:0011453)

Abnormality of the stapes (HP:0008628)

Aplasia of the middle ear ossicles (HP:0009910)

Fusion of middle ear ossicles (HP:0005473)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0011454	HP:0011454	Abnormality of the malleus	0	IL11RA CL E G H	3590	5967	OMIM:614188	Craniosynostosis and dental anomalies	8
HP:0011454	HP:0011455	Absent malleus	1	IL11RA CL E G H	3590	5967	OMIM:614188	Craniosynostosis and dental anomalies	8

Genes (1) :IL11RA

Diseases (1) :OMIM:614188

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