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 eye movement (HP:0000496)

Parent Node:
Compensatory head posture (HP:0031705)

..Starting node
..Compensatory chin elevation (HP:0001477)

Term ID:

1477

Name:

Compensatory chin elevation

Synonym:

Compensatory head tilt/chin elevation

Definition:

A tendency to hold the chin elevated by about 20 to 30 degrees to compensate for a limitation of eye movement.

Comments:

Reference:

HP:0001477

Genes and Diseases:

Child Nodes:

Sister Nodes:

Compensatory chin depression (HP:0031706)

Compensatory face turn to the left (HP:0031708)

Compensatory face turn to the right (HP:0031707)

Compensatory head tilt to the left shoulder (HP:0031710)

Compensatory head tilt to the right shoulder (HP:0031709)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0001477	HP:0001477	Compensatory chin elevation	0	KIF21A CL E G H	55605	135700	Fibrosis of extraocular muscles, congenital, 1	135700	C1851102	OMIM	1	236	19349	608283
HP:0001477	HP:0001477	Compensatory chin elevation	0	TUBB3 CL E G H	10381	600638	Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement	600638	C2748801	OMIM	1	320	20772	602661
HPO disease - gene - phenotype less frequent non-typical associations:

Genes (2) :KIF21A TUBB3

Diseases (2) :135700 600638

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.