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:
Abnormality of joint mobility (HP:0011729)

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

Parent Node:
Synostosis of joints (HP:0100240)

..Starting node
..Fusion of middle ear ossicles (HP:0005473)

Term ID:

5473

Name:

Fusion of middle ear ossicles

Synonym:

Definition:

Bony fusion of malleus, incus, and stapes.

Comments:

Reference:

HP:0005473

Genes and Diseases:

Child Nodes:

Sister Nodes:

Synostosis involving bones of the lower limbs (HP:0009138)

Synostosis involving bones of the upper limbs (HP:0100238)

Synostosis involving digits (HP:0100262)

Synostosis of carpals/tarsals (HP:0100266)

Synostosis of metacarpals/metatarsals (HP:0100265)

Vertebral fusion (HP:0002948)

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:0005473	HP:0005473	Fusion of middle ear ossicles	0	MAP3K7 CL E G H	6885	6859	OMIM:157800	Cardiospondylocarpofacial syndrome		11
HP:0005473	HP:0005473	Fusion of middle ear ossicles	0	POLR1D CL E G H	51082	20422	OMIM:613717	Treacher collins syndrome 2		31
HP:0005473	HP:0005473	Fusion of middle ear ossicles	0	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome	.	12

Genes (3) :MAP3K7 POLR1D TFAP2A

Diseases (3) :OMIM:157800 OMIM:613717 OMIM:113620

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