Human Phenotype Ontology

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:0009839	HP:0009839	Osteolytic defects of the distal phalanges of the hand	0	BANF1 CL E G H	8815	17397	OMIM:614008	Nestor-Guillermo progeria syndrome	.	22
HP:0009839	HP:0009839	Osteolytic defects of the distal phalanges of the hand	0	CTSK CL E G H	1513	2536	ORPHA:763	Pycnodysostosis		39
HP:0009839	HP:0009839	Osteolytic defects of the distal phalanges of the hand	0	CTSK CL E G H	1513	2536	OMIM:265800	PYCNODYSOSTOSIS	.	39
HP:0009839	HP:0009839	Osteolytic defects of the distal phalanges of the hand	0	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040283 - Occasional	645
HP:0009839	HP:0009839	Osteolytic defects of the distal phalanges of the hand	0	LMNA CL E G H	4000	6636	OMIM:248370	Mandibuloacral dysplasia	.	645
HP:0009839	HP:0009839	Osteolytic defects of the distal phalanges of the hand	0	LMNA CL E G H	4000	6636	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy	HP:0040281 - Very frequent	645
HP:0009839	HP:0009839	Osteolytic defects of the distal phalanges of the hand	0	MTX2 CL E G H	10651	7506	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy	HP:0040281 - Very frequent
HP:0009839	HP:0009839	Osteolytic defects of the distal phalanges of the hand	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040283 - Occasional	83
HP:0009839	HP:0009839	Osteolytic defects of the distal phalanges of the hand	0	ZMPSTE24 CL E G H	10269	12877	OMIM:608612	Mandibuloacral dysplasia with type B lipodystrophy	.	83
HP:0009839	HP:0009839	Osteolytic defects of the distal phalanges of the hand	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:90154	Mandibuloacral dysplasia with type B lipodystrophy	HP:0040281 - Very frequent	83
HP:0009839	HP:0009839	Osteolytic defects of the distal phalanges of the hand	0	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal		83
HP:0009839	HP:0009645	Osteolytic defect of the distal phalanx of the thumb	1	CL E G H
HP:0009839	HP:0009561	Osteolytic defects of the distal phalanx of the 2nd finger	1	CL E G H
HP:0009839	HP:0009424	Osteolytic defects of the distal phalanx of the 3rd finger	1	CL E G H
HP:0009839	HP:0009303	Osteolytic defects of the distal phalanx of the 4th finger	1	CL E G H
HP:0009839	HP:0009242	Osteolytic defects of the distal phalanx of the 5th finger	1	CL E G H