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:0009447	HP:0009447	Aplasia/Hypoplasia of the phalanges of the 3rd finger	0	COL2A1 CL E G H	1280	2200	OMIM:271700	Spondyloperipheral dysplasia		284
HP:0009447	HP:0009447	Aplasia/Hypoplasia of the phalanges of the 3rd finger	0	GDF5 CL E G H	8200	4220	OMIM:615072	Brachydactyly, type A1, C		52
HP:0009447	HP:0009447	Aplasia/Hypoplasia of the phalanges of the 3rd finger	0	GDF5 CL E G H	8200	4220	OMIM:113100	Brachydactyly, type C		52
HP:0009447	HP:0009447	Aplasia/Hypoplasia of the phalanges of the 3rd finger	0	GNAS CL E G H	2778	4392	ORPHA:79445	Pseudopseudohypoparathyroidism		101
HP:0009447	HP:0009447	Aplasia/Hypoplasia of the phalanges of the 3rd finger	0	NSDHL CL E G H	50814	13398	OMIM:308050	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects		34
HP:0009447	HP:0009457	Aplasia/Hypoplasia of the proximal phalanx of the 3rd finger	1	CL E G H
HP:0009447	HP:0009421	Aplasia/Hypoplasia of the distal phalanx of the 3rd finger	1	COL2A1 CL E G H	1280	2200	OMIM:271700	Spondyloperipheral dysplasia		284
HP:0009447	HP:0009437	Aplasia/Hypoplasia of the middle phalanx of the 3rd finger	1	GDF5 CL E G H	8200	4220	OMIM:615072	Brachydactyly, type A1, C		52
HP:0009447	HP:0009437	Aplasia/Hypoplasia of the middle phalanx of the 3rd finger	1	GDF5 CL E G H	8200	4220	OMIM:113100	Brachydactyly, type C		52
HP:0009447	HP:0009421	Aplasia/Hypoplasia of the distal phalanx of the 3rd finger	1	GNAS CL E G H	2778	4392	ORPHA:79445	Pseudopseudohypoparathyroidism		101
HP:0009447	HP:0009421	Aplasia/Hypoplasia of the distal phalanx of the 3rd finger	1	NSDHL CL E G H	50814	13398	OMIM:308050	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects		34
HP:0009447	HP:0009437	Aplasia/Hypoplasia of the middle phalanx of the 3rd finger	1	NSDHL CL E G H	50814	13398	OMIM:308050	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects		34
HP:0009447	HP:0009459	Short proximal phalanx of the 3rd finger	2	CL E G H
HP:0009447	HP:0009458	Aplasia of the proximal phalanx of the 3rd finger	2	CL E G H
HP:0009447	HP:0004180	Short distal phalanx of the 3rd finger	2	COL2A1 CL E G H	1280	2200	OMIM:271700	Spondyloperipheral dysplasia	.	284
HP:0009447	HP:0009439	Short middle phalanx of the 3rd finger	2	GDF5 CL E G H	8200	4220	OMIM:615072	Brachydactyly, type A1, C		52
HP:0009447	HP:0009439	Short middle phalanx of the 3rd finger	2	GDF5 CL E G H	8200	4220	OMIM:113100	Brachydactyly, type C		52
HP:0009447	HP:0004180	Short distal phalanx of the 3rd finger	2	GNAS CL E G H	2778	4392	ORPHA:79445	Pseudopseudohypoparathyroidism	HP:0040283 - Occasional	101
HP:0009447	HP:0009438	Absent middle phalanx of 3rd finger	2	NSDHL CL E G H	50814	13398	OMIM:308050	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects		34
HP:0009447	HP:0009429	Aplasia of the distal phalanx of the 3rd finger	2	NSDHL CL E G H	50814	13398	OMIM:308050	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects		34