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:0006143	HP:0006143	Abnormal finger flexion creases	0	ATR CL E G H	545	882	OMIM:210600	Seckel syndrome 1	.	168
HP:0006143	HP:0006143	Abnormal finger flexion creases	0	COL1A2 CL E G H	1278	2198	ORPHA:230851	Cardiac-valvular Ehlers-Danlos syndrome		243
HP:0006143	HP:0006143	Abnormal finger flexion creases	0	GDF5 CL E G H	8200	4220	OMIM:615298	SYMPHALANGISM, PROXIMAL, 1B; SYM1B		52
HP:0006143	HP:0006143	Abnormal finger flexion creases	0	HOXD13 CL E G H	3239	5136	OMIM:186300	Syndactyly, type V		25
HP:0006143	HP:0006143	Abnormal finger flexion creases	0	IHH CL E G H	3549	5956	OMIM:112500	Brachydactyly, type A1		44
HP:0006143	HP:0006143	Abnormal finger flexion creases	0	LMX1B CL E G H	4010	6654	OMIM:161200	Nail-Patella syndrome		165
HP:0006143	HP:0006143	Abnormal finger flexion creases	0	MASP1 CL E G H	5648	6901	OMIM:257920	3mc syndrome 1		21
HP:0006143	HP:0006143	Abnormal finger flexion creases	0	MET CL E G H	4233	7029	OMIM:620019			375
HP:0006143	HP:0006143	Abnormal finger flexion creases	0	MYH3 CL E G H	4621	7573	OMIM:618469	CONTRACTURES, PTERYGIA, AND SPONDYLOCARPOTARSAL FUSION SYNDROME 1B; CPSFS1B		166
HP:0006143	HP:0006143	Abnormal finger flexion creases	0	NOG CL E G H	9241	7866	OMIM:611377	Brachydactyly, type B2		22
HP:0006143	HP:0006143	Abnormal finger flexion creases	0	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1		22
HP:0006143	HP:0006143	Abnormal finger flexion creases	0	PIEZO2 CL E G H	63895	26270	OMIM:108145	Arthrogryposis, distal, type 5		77
HP:0006143	HP:0006143	Abnormal finger flexion creases	0	RBBP8 CL E G H	5932	9891	OMIM:251255	Jawad syndrome		68
HP:0006143	HP:0006143	Abnormal finger flexion creases	0	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive		120
HP:0006143	HP:0006143	Abnormal finger flexion creases	0	TBX15 CL E G H	6913	11594	OMIM:260660	Cousin syndrome		5
HP:0006143	HP:0006143	Abnormal finger flexion creases	0	TLK2 CL E G H	11011	11842	OMIM:618050	Mental retardation, autosomal dominant 57		1
HP:0006143	HP:0006143	Abnormal finger flexion creases	0	TNNI2 CL E G H	7136	11946	OMIM:601680	Arthrogryposis, distal, type 2B		37
HP:0006143	HP:0006143	Abnormal finger flexion creases	0	TPM2 CL E G H	7169	12011	OMIM:108120	Arthrogryposis, distal, type 1A		54
HP:0006143	HP:0006143	Abnormal finger flexion creases	0	WNT7A CL E G H	7476	12786	OMIM:228930	Fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly		13
HP:0006143	HP:0001049	Absent dorsal skin creases over affected joints	1	CL E G H
HP:0006143	HP:0006109	Absent phalangeal crease	1	COL1A2 CL E G H	1278	2198	ORPHA:230851	Cardiac-valvular Ehlers-Danlos syndrome	HP:0040282 - Frequent	243
HP:0006143	HP:0006109	Absent phalangeal crease	1	HOXD13 CL E G H	3239	5136	OMIM:186300	Syndactyly, type V		25
HP:0006143	HP:0006109	Absent phalangeal crease	1	IHH CL E G H	3549	5956	OMIM:112500	Brachydactyly, type A1		44
HP:0006143	HP:0006109	Absent phalangeal crease	1	LMX1B CL E G H	4010	6654	OMIM:161200	Nail-Patella syndrome		165
HP:0006143	HP:0006109	Absent phalangeal crease	1	MASP1 CL E G H	5648	6901	OMIM:257920	3mc syndrome 1		21
HP:0006143	HP:0006109	Absent phalangeal crease	1	MET CL E G H	4233	7029	OMIM:620019			375
HP:0006143	HP:0006109	Absent phalangeal crease	1	MYH3 CL E G H	4621	7573	OMIM:618469	CONTRACTURES, PTERYGIA, AND SPONDYLOCARPOTARSAL FUSION SYNDROME 1B; CPSFS1B		166
HP:0006143	HP:0006109	Absent phalangeal crease	1	NOG CL E G H	9241	7866	OMIM:611377	Brachydactyly, type B2		22
HP:0006143	HP:0006109	Absent phalangeal crease	1	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1		22
HP:0006143	HP:0006109	Absent phalangeal crease	1	PIEZO2 CL E G H	63895	26270	OMIM:108145	Arthrogryposis, distal, type 5	.	77
HP:0006143	HP:0006109	Absent phalangeal crease	1	RBBP8 CL E G H	5932	9891	OMIM:251255	Jawad syndrome		68
HP:0006143	HP:0006109	Absent phalangeal crease	1	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive		120
HP:0006143	HP:0006109	Absent phalangeal crease	1	TBX15 CL E G H	6913	11594	OMIM:260660	Cousin syndrome		5
HP:0006143	HP:0006109	Absent phalangeal crease	1	TLK2 CL E G H	11011	11842	OMIM:618050	Mental retardation, autosomal dominant 57		1
HP:0006143	HP:0006109	Absent phalangeal crease	1	TNNI2 CL E G H	7136	11946	OMIM:601680	Arthrogryposis, distal, type 2B	.	37
HP:0006143	HP:0006109	Absent phalangeal crease	1	TPM2 CL E G H	7169	12011	OMIM:108120	Arthrogryposis, distal, type 1A		54
HP:0006143	HP:0001032	Absent distal interphalangeal creases	2	HOXD13 CL E G H	3239	5136	OMIM:186300	Syndactyly, type V	.	25
HP:0006143	HP:0001032	Absent distal interphalangeal creases	2	IHH CL E G H	3549	5956	OMIM:112500	Brachydactyly, type A1	.	44
HP:0006143	HP:0001032	Absent distal interphalangeal creases	2	LMX1B CL E G H	4010	6654	OMIM:161200	Nail-Patella syndrome		165
HP:0006143	HP:0006216	Single interphalangeal crease of fifth finger	2	MASP1 CL E G H	5648	6901	OMIM:257920	3mc syndrome 1	.	21
HP:0006143	HP:0006077	Absent proximal finger flexion creases	2	MET CL E G H	4233	7029	OMIM:620019			375
HP:0006143	HP:0006077	Absent proximal finger flexion creases	2	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1		22
HP:0006143	HP:0001032	Absent distal interphalangeal creases	2	RBBP8 CL E G H	5932	9891	OMIM:251255	Jawad syndrome		68
HP:0006143	HP:0006216	Single interphalangeal crease of fifth finger	2	RBBP8 CL E G H	5932	9891	OMIM:251255	Jawad syndrome	.	68
HP:0006143	HP:0006216	Single interphalangeal crease of fifth finger	2	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive		120
HP:0006143	HP:0006077	Absent proximal finger flexion creases	2	TBX15 CL E G H	6913	11594	OMIM:260660	Cousin syndrome	.	5
HP:0006143	HP:0001032	Absent distal interphalangeal creases	2	TLK2 CL E G H	11011	11842	OMIM:618050	Mental retardation, autosomal dominant 57		1
HP:0006143	HP:0001032	Absent distal interphalangeal creases	2	TPM2 CL E G H	7169	12011	OMIM:108120	Arthrogryposis, distal, type 1A	.	54
HP:0006143	HP:0005780	Absent fourth finger distal interphalangeal crease	3	RBBP8 CL E G H	5932	9891	OMIM:251255	Jawad syndrome	.	68
HP:0006143	HP:0005780	Absent fourth finger distal interphalangeal crease	3	TLK2 CL E G H	11011	11842	OMIM:618050	Mental retardation, autosomal dominant 57		1