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:0010239 | HP:0010239 | Aplasia of the middle phalanx of the hand | 0 | ATP6V1B2 CL E G H | 526 | 854 | OMIM:124480 | Deafness, congenital, and onychodystrophy, autosomal dominant | | | | 5 | | |
HP:0010239 | HP:0010239 | Aplasia of the middle phalanx of the hand | 0 | FGF10 CL E G H | 2255 | 3666 | OMIM:149730 | Lacrimoauriculodentodigital syndrome | | | | 17 | | |
HP:0010239 | HP:0010239 | Aplasia of the middle phalanx of the hand | 0 | FGFR2 CL E G H | 2263 | 3689 | OMIM:149730 | Lacrimoauriculodentodigital syndrome | | | | 175 | | |
HP:0010239 | HP:0010239 | Aplasia of the middle phalanx of the hand | 0 | FGFR3 CL E G H | 2261 | 3690 | OMIM:149730 | Lacrimoauriculodentodigital syndrome | | | | 145 | | |
HP:0010239 | HP:0010239 | Aplasia of the middle phalanx of the hand | 0 | FIG4 CL E G H | 9896 | 16873 | OMIM:216340 | Yunis-Varon syndrome | | | | 111 | | |
HP:0010239 | HP:0010239 | Aplasia of the middle phalanx of the hand | 0 | GJA1 CL E G H | 2697 | 4274 | OMIM:186100 | Syndactyly, type III | | | | 68 | | |
HP:0010239 | HP:0010239 | Aplasia of the middle phalanx of the hand | 0 | IFT140 CL E G H | 9742 | 29077 | OMIM:266920 | Short-rib thoracic dysplasia 9 with or without polydactyly | | | | 148 | | |
HP:0010239 | HP:0010239 | Aplasia of the middle phalanx of the hand | 0 | LMNA CL E G H | 4000 | 6636 | OMIM:610140 | Heart-hand syndrome, Slovenian type | . | | | 645 | | |
HP:0010239 | HP:0010239 | Aplasia of the middle phalanx of the hand | 0 | MEGF8 CL E G H | 1954 | 3233 | OMIM:614976 | Carpenter syndrome 2 | . | | | 13 | | |
HP:0010239 | HP:0010239 | Aplasia of the middle phalanx of the hand | 0 | NSDHL CL E G H | 50814 | 13398 | OMIM:308050 | Congenital hemidysplasia with ichthyosiform erythroderma and limb defects | | | | 34 | | |
HP:0010239 | HP:0009294 | Absent middle phalanx of 4th finger | 1 | CL E G H | | | | | | | | | | |
HP:0010239 | HP:0009162 | Absent middle phalanx of 5th finger | 1 | ATP6V1B2 CL E G H | 526 | 854 | OMIM:124480 | Deafness, congenital, and onychodystrophy, autosomal dominant | | | | 5 | | |
HP:0010239 | HP:0009637 | Absent proximal phalanx of thumb | 1 | FGF10 CL E G H | 2255 | 3666 | OMIM:149730 | Lacrimoauriculodentodigital syndrome | . | | | 17 | | |
HP:0010239 | HP:0009637 | Absent proximal phalanx of thumb | 1 | FGFR2 CL E G H | 2263 | 3689 | OMIM:149730 | Lacrimoauriculodentodigital syndrome | . | | | 175 | | |
HP:0010239 | HP:0009637 | Absent proximal phalanx of thumb | 1 | FGFR3 CL E G H | 2261 | 3690 | OMIM:149730 | Lacrimoauriculodentodigital syndrome | . | | | 145 | | |
HP:0010239 | HP:0009576 | Absent middle phalanx of 2nd finger | 1 | FIG4 CL E G H | 9896 | 16873 | OMIM:216340 | Yunis-Varon syndrome | | | | 111 | | |
HP:0010239 | HP:0009162 | Absent middle phalanx of 5th finger | 1 | GJA1 CL E G H | 2697 | 4274 | OMIM:186100 | Syndactyly, type III | . | | | 68 | | |
HP:0010239 | HP:0009576 | Absent middle phalanx of 2nd finger | 1 | IFT140 CL E G H | 9742 | 29077 | OMIM:266920 | Short-rib thoracic dysplasia 9 with or without polydactyly | | | | 148 | | |
HP:0010239 | HP:0009162 | Absent middle phalanx of 5th finger | 1 | IFT140 CL E G H | 9742 | 29077 | OMIM:266920 | Short-rib thoracic dysplasia 9 with or without polydactyly | | | | 148 | | |
HP:0010239 | HP:0009576 | Absent middle phalanx of 2nd finger | 1 | NSDHL CL E G H | 50814 | 13398 | OMIM:308050 | Congenital hemidysplasia with ichthyosiform erythroderma and limb defects | | | | 34 | | |
HP:0010239 | HP:0009438 | Absent middle phalanx of 3rd finger | 1 | NSDHL CL E G H | 50814 | 13398 | OMIM:308050 | Congenital hemidysplasia with ichthyosiform erythroderma and limb defects | | | | 34 | | |