Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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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 | | |