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:0003635 | HP:0003635 | Loss of subcutaneous adipose tissue in limbs | 0 | CAV1 CL E G H | 857 | 1527 | OMIM:606721 | Lipodystrophy, familial partial, type 7 | | | | 11 | | |
HP:0003635 | HP:0003635 | Loss of subcutaneous adipose tissue in limbs | 0 | CIDEC CL E G H | 63924 | 24229 | ORPHA:435651 | CIDEC-related familial partial lipodystrophy | HP:0040280 - Obligate | | | 8 | | |
HP:0003635 | HP:0003635 | Loss of subcutaneous adipose tissue in limbs | 0 | LIPE CL E G H | 3991 | 6621 | ORPHA:435660 | LIPE-related familial partial lipodystrophy | HP:0040280 - Obligate | | | 7 | | |
HP:0003635 | HP:0003635 | Loss of subcutaneous adipose tissue in limbs | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:280365 | Autosomal semi-dominant severe lipodystrophic laminopathy | HP:0040282 - Frequent | | | 645 | | |
HP:0003635 | HP:0003635 | Loss of subcutaneous adipose tissue in limbs | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:2348 | Familial partial lipodystrophy, Dunnigan type | HP:0040282 - Frequent | | | 645 | | |
HP:0003635 | HP:0003635 | Loss of subcutaneous adipose tissue in limbs | 0 | LMNA CL E G H | 4000 | 6636 | OMIM:151660 | Lipodystrophy, familial partial, type 2 | . | | | 645 | | |
HP:0003635 | HP:0003635 | Loss of subcutaneous adipose tissue in limbs | 0 | LMNA CL E G H | 4000 | 6636 | OMIM:248370 | Mandibuloacral dysplasia | . | | | 645 | | |
HP:0003635 | HP:0003635 | Loss of subcutaneous adipose tissue in limbs | 0 | LMNB2 CL E G H | 84823 | 6638 | OMIM:608709 | Lipodystrophy, partial, acquired, susceptibility to | | | | 11 | | |
HP:0003635 | HP:0003635 | Loss of subcutaneous adipose tissue in limbs | 0 | PLIN1 CL E G H | 5346 | 9076 | ORPHA:280356 | PLIN1-related familial partial lipodystrophy | HP:0040281 - Very frequent | | | 19 | | |
HP:0003635 | HP:0003635 | Loss of subcutaneous adipose tissue in limbs | 0 | PPARG CL E G H | 5468 | 9236 | OMIM:604367 | Lipodystrophy, familial partial, type 3 | . | | | 42 | | |
HP:0003635 | HP:0003635 | Loss of subcutaneous adipose tissue in limbs | 0 | PPARG CL E G H | 5468 | 9236 | ORPHA:79083 | PPARG-related familial partial lipodystrophy | HP:0040281 - Very frequent | | | 42 | | |
HP:0003635 | HP:0003635 | Loss of subcutaneous adipose tissue in limbs | 0 | ZMPSTE24 CL E G H | 10269 | 12877 | OMIM:608612 | Mandibuloacral dysplasia with type B lipodystrophy | . | | | 83 | | |
HP:0003635 | HP:0009056 | Loss of subcutaneous adipose tissue from upper limbs | 1 | LMNB2 CL E G H | 84823 | 6638 | OMIM:608709 | Lipodystrophy, partial, acquired, susceptibility to | . | | | 11 | | |