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:0010237	HP:0010237	Epiphyseal stippling of finger phalanges	0	ARSL CL E G H	415	719	ORPHA:79345	Brachytelephalangic chondrodysplasia punctata
HP:0010237	HP:0010237	Epiphyseal stippling of finger phalanges	0	BMPR1B CL E G H	658	1077	ORPHA:93384	Brachydactyly type C		90
HP:0010237	HP:0010237	Epiphyseal stippling of finger phalanges	0	GDF5 CL E G H	8200	4220	ORPHA:93384	Brachydactyly type C		52
HP:0010237	HP:0009419	Stippling of the epiphyses of the 3rd finger	1	CL E G H
HP:0010237	HP:0009402	Stippling of the epiphyses of the 4th finger	1	CL E G H
HP:0010237	HP:0009391	Stippling of the epiphyses of the 5th finger	1	CL E G H
HP:0010237	HP:0010277	Stippling of the epiphyses of the proximal phalanges of the hand	1	CL E G H
HP:0010237	HP:0009497	Stippling of the epiphyses of the 2nd finger	1	CL E G H
HP:0010237	HP:0010266	Stippling of the epiphyses of the middle phalanges of the hand	1	CL E G H
HP:0010237	HP:0010255	Stippling of the epiphyses of the distal phalanges of the hand	1	ARSL CL E G H	415	719	ORPHA:79345	Brachytelephalangic chondrodysplasia punctata	HP:0040283 - Occasional
HP:0010237	HP:0009695	Stippling of thumb epiphysis	1	BMPR1B CL E G H	658	1077	ORPHA:93384	Brachydactyly type C		90
HP:0010237	HP:0010255	Stippling of the epiphyses of the distal phalanges of the hand	1	BMPR1B CL E G H	658	1077	ORPHA:93384	Brachydactyly type C		90
HP:0010237	HP:0009695	Stippling of thumb epiphysis	1	GDF5 CL E G H	8200	4220	ORPHA:93384	Brachydactyly type C		52
HP:0010237	HP:0010255	Stippling of the epiphyses of the distal phalanges of the hand	1	GDF5 CL E G H	8200	4220	ORPHA:93384	Brachydactyly type C		52
HP:0010237	HP:0010024	Epiphyseal stippling of the first metacarpal	2	CL E G H
HP:0010237	HP:0009259	Stippling of the epiphysis of the distal phalanx of the 4th finger	2	CL E G H
HP:0010237	HP:0009673	Stippling of the epiphysis of the proximal phalanx of the thumb	2	CL E G H
HP:0010237	HP:0009223	Stippling of the epiphysis of the middle phalanx of the 4th finger	2	CL E G H
HP:0010237	HP:0009533	Stippling of the epiphysis of the proximal phalanx of the 2nd finger	2	CL E G H
HP:0010237	HP:0009212	Stippling of the epiphysis of the middle phalanx of the 5th finger	2	CL E G H
HP:0010237	HP:0009355	Stippling of the epiphysis of the proximal phalanx of the 3rd finger	2	CL E G H
HP:0010237	HP:0009522	Stippling of the epiphysis of the middle phalanx of the 2nd finger	2	CL E G H
HP:0010237	HP:0009201	Stippling of the epiphysis of the proximal phalanx of the 5th finger	2	CL E G H
HP:0010237	HP:0009344	Stippling of the epiphysis of the distal phalanx of the 3rd finger	2	CL E G H
HP:0010237	HP:0009511	Stippling of the epiphysis of the distal phalanx of the 2nd finger	2	CL E G H
HP:0010237	HP:0009165	Stippling of the epiphysis of the distal phalanx of the 5th finger	2	CL E G H
HP:0010237	HP:0009330	Stippling of the epiphysis of the middle phalanx of the 3rd finger	2	CL E G H
HP:0010237	HP:0009270	Stippling of the epiphysis of the proximal phalanx of the 4th finger	2	CL E G H
HP:0010237	HP:0009684	Stippling of the epiphysis of the distal phalanx of the thumb	2	BMPR1B CL E G H	658	1077	ORPHA:93384	Brachydactyly type C	HP:0040282 - Frequent	90
HP:0010237	HP:0009684	Stippling of the epiphysis of the distal phalanx of the thumb	2	GDF5 CL E G H	8200	4220	ORPHA:93384	Brachydactyly type C	HP:0040282 - Frequent	52