Human Phenotype Ontology

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:0025590	HP:0025590	Abnormal extraocular muscle physiology	0	FBN1 CL E G H	2200	3603	OMIM:154700	Marfan syndrome	1361
HP:0025590	HP:0031755	Abnormal rectus muscle physiology	1	CL E G H
HP:0025590	HP:0031739	Abnormal oblique muscle physiology	1	FBN1 CL E G H	2200	3603	OMIM:154700	Marfan syndrome	1361
HP:0025590	HP:0031740	Abnormal horizontal rectus muscle physiology	2	CL E G H
HP:0025590	HP:0031748	Abnormal vertical rectus muscle physiology	2	CL E G H
HP:0025590	HP:0025591	Abnormal superior oblique muscle physiology	2	CL E G H
HP:0025590	HP:0025596	Abnormal inferior oblique muscle physiology	2	FBN1 CL E G H	2200	3603	OMIM:154700	Marfan syndrome	1361
HP:0025590	HP:0025606	Abnormal medial rectus muscle physiology	3	CL E G H
HP:0025590	HP:0025603	Abnormal superior rectus muscle physiology	3	CL E G H
HP:0025590	HP:0025594	Superior oblique muscle overaction	3	CL E G H
HP:0025590	HP:0031749	Abnormal lateral rectus muscle physiology	3	CL E G H
HP:0025590	HP:0025592	Superior oblique muscle weakness	3	CL E G H
HP:0025590	HP:0025600	Abnormal inferior rectus muscle physiology	3	CL E G H
HP:0025590	HP:0025598	Inferior oblique muscle weakness	3	CL E G H
HP:0025590	HP:0025599	Inferior oblique muscle overaction	3	FBN1 CL E G H	2200	3603	OMIM:154700	Marfan syndrome	1361
HP:0025590	HP:0025597	Inferior oblique muscle restriction	4	CL E G H
HP:0025590	HP:0031752	Lateral rectus muscle overaction	4	CL E G H
HP:0025590	HP:0031745	Superior rectus muscle overaction	4	CL E G H
HP:0025590	HP:0025595	Superior oblique muscle underaction	4	CL E G H
HP:0025590	HP:0031744	Superior rectus muscle weakness	4	CL E G H
HP:0025590	HP:0031750	Lateral rectus muscle weakness	4	CL E G H
HP:0025590	HP:0031743	Inferior rectus muscle overaction	4	CL E G H
HP:0025590	HP:0025593	Superior oblique muscle restriction	4	CL E G H
HP:0025590	HP:0025601	Inferior rectus muscle weakness	4	CL E G H
HP:0025590	HP:0031754	Medial rectus muscle overaction	4	CL E G H
HP:0025590	HP:0031741	Inferior oblique muscle underaction	4	CL E G H
HP:0025590	HP:0031753	Medial rectus muscle weakness	4	CL E G H
HP:0025590	HP:0031746	Superior rectus muscle restriction	5	CL E G H
HP:0025590	HP:0031758	Lateral rectus muscle restriction	5	CL E G H
HP:0025590	HP:0031751	Lateral rectus muscle underaction	5	CL E G H
HP:0025590	HP:0031757	Medial rectus muscle restriction	5	CL E G H
HP:0025590	HP:0025602	Inferior rectus muscle restriction	5	CL E G H
HP:0025590	HP:0031756	Medial rectus muscle underaction	5	CL E G H
HP:0025590	HP:0031742	Inferior rectus muscle underaction	5	CL E G H
HP:0025590	HP:0031747	Superior rectus muscle underaction	5	CL E G H