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:0100679 | HP:0100679 | Lack of skin elasticity | 0 | ABCA12 CL E G H | 26154 | 14637 | ORPHA:313 | Lamellar ichthyosis | HP:0040281 - Very frequent | | | 130 | | |
HP:0100679 | HP:0100679 | Lack of skin elasticity | 0 | ABCC6 CL E G H | 368 | 57 | ORPHA:758 | Pseudoxanthoma elasticum | HP:0040281 - Very frequent | | | 415 | | |
HP:0100679 | HP:0100679 | Lack of skin elasticity | 0 | ADAMTSL2 CL E G H | 9719 | 14631 | OMIM:231050 | Geleophysic dysplasia 1 | . | | | 72 | | |
HP:0100679 | HP:0100679 | Lack of skin elasticity | 0 | AIP CL E G H | 9049 | 358 | OMIM:219090 | Pituitary adenoma 4, ACTH-secreting, somatic | | | | 95 | | |
HP:0100679 | HP:0100679 | Lack of skin elasticity | 0 | ALOX12B CL E G H | 242 | 430 | ORPHA:313 | Lamellar ichthyosis | HP:0040281 - Very frequent | | | 75 | | |
HP:0100679 | HP:0100679 | Lack of skin elasticity | 0 | ALOXE3 CL E G H | 59344 | 13743 | ORPHA:313 | Lamellar ichthyosis | HP:0040281 - Very frequent | | | 63 | | |
HP:0100679 | HP:0100679 | Lack of skin elasticity | 0 | ARMC5 CL E G H | 79798 | 25781 | ORPHA:189427 | Cushing syndrome due to macronodular adrenal hyperplasia | | | | 7 | | |
HP:0100679 | HP:0100679 | Lack of skin elasticity | 0 | ASPRV1 CL E G H | 151516 | 26321 | ORPHA:313 | Lamellar ichthyosis | HP:0040281 - Very frequent | | | 1 | | |
HP:0100679 | HP:0100679 | Lack of skin elasticity | 0 | ATRX CL E G H | 546 | 886 | ORPHA:96253 | Cushing disease | | | | 169 | | |
HP:0100679 | HP:0100679 | Lack of skin elasticity | 0 | BRAF CL E G H | 673 | 1097 | ORPHA:96253 | Cushing disease | | | | 276 | | |
HP:0100679 | HP:0100679 | Lack of skin elasticity | 0 | CDH23 CL E G H | 64072 | 13733 | ORPHA:96253 | Cushing disease | | | | 636 | | |
HP:0100679 | HP:0100679 | Lack of skin elasticity | 0 | CDKN2A CL E G H | 1029 | 1787 | ORPHA:1501 | Adrenocortical carcinoma | | | | 289 | | |
HP:0100679 | HP:0100679 | Lack of skin elasticity | 0 | COL1A1 CL E G H | 1277 | 2197 | ORPHA:287 | Classical Ehlers-Danlos syndrome | | | | 373 | | |
HP:0100679 | HP:0100679 | Lack of skin elasticity | 0 | COL5A1 CL E G H | 1289 | 2209 | ORPHA:287 | Classical Ehlers-Danlos syndrome | | | | 660 | | |
HP:0100679 | HP:0100679 | Lack of skin elasticity | 0 | COL5A1 CL E G H | 1289 | 2209 | OMIM:619329 | FIBROMUSCULAR DYSPLASIA, MULTIFOCAL; FMDMF | | | | 660 | | |
HP:0100679 | HP:0100679 | Lack of skin elasticity | 0 | COL5A2 CL E G H | 1290 | 2210 | ORPHA:287 | Classical Ehlers-Danlos syndrome | | | | 325 | | |
HP:0100679 | HP:0100679 | Lack of skin elasticity | 0 | COPB1 CL E G H | 1315 | 2231 | OMIM:619255 | BARALLE-MACKEN SYNDROME; BARMACS | | | | | | |
HP:0100679 | HP:0100679 | Lack of skin elasticity | 0 | CTNNB1 CL E G H | 1499 | 2514 | ORPHA:1501 | Adrenocortical carcinoma | | | | 88 | | |
HP:0100679 | HP:0100679 | Lack of skin elasticity | 0 | CUL4B CL E G H | 8450 | 2555 | OMIM:300354 | Mental retardation, X-linked, syndromic, Cabezas type | | | | 38 | | |
HP:0100679 | HP:0100679 | Lack of skin elasticity | 0 | CYP4F22 CL E G H | 126410 | 26820 | ORPHA:313 | Lamellar ichthyosis | HP:0040281 - Very frequent | | | 54 | | |
HP:0100679 | HP:0100679 | Lack of skin elasticity | 0 | DLG4 CL E G H | 1742 | 2903 | OMIM:618793 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 62; MRD62 | | | | 2 | | |
HP:0100679 | HP:0100679 | Lack of skin elasticity | 0 | EFEMP2 CL E G H | 30008 | 3219 | ORPHA:90349 | Autosomal recessive cutis laxa type 1 | HP:0040281 - Very frequent | | | 45 | | |
HP:0100679 | HP:0100679 | Lack of skin elasticity | 0 | ENPP1 CL E G H | 5167 | 3356 | ORPHA:758 | Pseudoxanthoma elasticum | HP:0040281 - Very frequent | | | 151 | | |
HP:0100679 | HP:0100679 | Lack of skin elasticity | 0 | FBLN5 CL E G H | 10516 | 3602 | ORPHA:90349 | Autosomal recessive cutis laxa type 1 | HP:0040281 - Very frequent | | | 63 | | |
HP:0100679 | HP:0100679 | Lack of skin elasticity | 0 | FBN1 CL E G H | 2200 | 3603 | OMIM:154700 | Marfan syndrome | | | | 1361 | | |
HP:0100679 | HP:0100679 | Lack of skin elasticity | 0 | FBN1 CL E G H | 2200 | 3603 | OMIM:604308 | MASS SYNDROME | | | | 1361 | | |
HP:0100679 | HP:0100679 | Lack of skin elasticity | 0 | FBN1 CL E G H | 2200 | 3603 | ORPHA:2833 | Stiff skin syndrome | HP:0040281 - Very frequent | | | 1361 | | |
HP:0100679 | HP:0100679 | Lack of skin elasticity | 0 | FBN1 CL E G H | 2200 | 3603 | OMIM:608328 | Weill-Marchesani syndrome 2, dominant | | | | 1361 | | |
HP:0100679 | HP:0100679 | Lack of skin elasticity | 0 | GNAS CL E G H | 2778 | 4392 | OMIM:219080 | ACTH-independent macronodular adrenal hyperplasia | | | | 101 | | |
HP:0100679 | HP:0100679 | Lack of skin elasticity | 0 | GNAS CL E G H | 2778 | 4392 | ORPHA:189427 | Cushing syndrome due to macronodular adrenal hyperplasia | | | | 101 | | |
HP:0100679 | HP:0100679 | Lack of skin elasticity | 0 | HRAS CL E G H | 3265 | 5173 | ORPHA:3071 | Costello syndrome | HP:0040281 - Very frequent | | | 113 | | |
HP:0100679 | HP:0100679 | Lack of skin elasticity | 0 | IPO8 CL E G H | 10526 | 9853 | ORPHA:60030 | Loeys-Dietz syndrome | | | | | | |
HP:0100679 | HP:0100679 | Lack of skin elasticity | 0 | LIPN CL E G H | 643418 | 23452 | ORPHA:313 | Lamellar ichthyosis | HP:0040281 - Very frequent | | | 1 | | |
HP:0100679 | HP:0100679 | Lack of skin elasticity | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:79474 | Atypical Werner syndrome | HP:0040281 - Very frequent | | | 645 | | |
HP:0100679 | HP:0100679 | Lack of skin elasticity | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:740 | Hutchinson-Gilford progeria syndrome | HP:0040282 - Frequent | | | 645 | | |
HP:0100679 | HP:0100679 | Lack of skin elasticity | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:90153 | Mandibuloacral dysplasia with type A lipodystrophy | HP:0040283 - Occasional | | | 645 | | |
HP:0100679 | HP:0100679 | Lack of skin elasticity | 0 | LTBP1 CL E G H | 4052 | 6714 | ORPHA:90349 | Autosomal recessive cutis laxa type 1 | HP:0040281 - Very frequent | | | | | |
HP:0100679 | HP:0100679 | Lack of skin elasticity | 0 | MTX2 CL E G H | 10651 | 7506 | ORPHA:90153 | Mandibuloacral dysplasia with type A lipodystrophy | HP:0040283 - Occasional | | | | | |
HP:0100679 | HP:0100679 | Lack of skin elasticity | 0 | NIPAL4 CL E G H | 348938 | 28018 | ORPHA:313 | Lamellar ichthyosis | HP:0040281 - Very frequent | | | 60 | | |
HP:0100679 | HP:0100679 | Lack of skin elasticity | 0 | NR3C1 CL E G H | 2908 | 7978 | ORPHA:96253 | Cushing disease | | | | 79 | | |
HP:0100679 | HP:0100679 | Lack of skin elasticity | 0 | PAH CL E G H | 5053 | 8582 | ORPHA:79254 | Classic phenylketonuria | HP:0040283 - Occasional | | | 641 | | |
HP:0100679 | HP:0100679 | Lack of skin elasticity | 0 | PDE11A CL E G H | 50940 | 8773 | ORPHA:1359 | Carney complex | | | | 13 | | |
HP:0100679 | HP:0100679 | Lack of skin elasticity | 0 | PDE11A CL E G H | 50940 | 8773 | OMIM:610475 | Pigmented nodular adrenocortical disease, primary, 2 | | | | 13 | | |
HP:0100679 | HP:0100679 | Lack of skin elasticity | 0 | PDE11A CL E G H | 50940 | 8773 | ORPHA:189439 | Primary pigmented nodular adrenocortical disease | | | | 13 | | |
HP:0100679 | HP:0100679 | Lack of skin elasticity | 0 | PDE8B CL E G H | 8622 | 8794 | ORPHA:189439 | Primary pigmented nodular adrenocortical disease | | | | 75 | | |
HP:0100679 | HP:0100679 | Lack of skin elasticity | 0 | POLD1 CL E G H | 5424 | 9175 | OMIM:615381 | Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome | . | | | 731 | | |
HP:0100679 | HP:0100679 | Lack of skin elasticity | 0 | PRKACA CL E G H | 5566 | 9380 | ORPHA:189439 | Primary pigmented nodular adrenocortical disease | | | | 2 | | |
HP:0100679 | HP:0100679 | Lack of skin elasticity | 0 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:1501 | Adrenocortical carcinoma | | | | 134 | | |
HP:0100679 | HP:0100679 | Lack of skin elasticity | 0 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:1359 | Carney complex | | | | 134 | | |
HP:0100679 | HP:0100679 | Lack of skin elasticity | 0 | PRKAR1A CL E G H | 5573 | 9388 | OMIM:610489 | Pigmented nodular adrenocortical disease, primary, 1 | | | | 134 | | |
HP:0100679 | HP:0100679 | Lack of skin elasticity | 0 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:189439 | Primary pigmented nodular adrenocortical disease | | | | 134 | | |
HP:0100679 | HP:0100679 | Lack of skin elasticity | 0 | PYCR1 CL E G H | 5831 | 9721 | OMIM:612940 | Cutis laxa, autosomal recessive, type IIB | | | | 53 | | |
HP:0100679 | HP:0100679 | Lack of skin elasticity | 0 | SDR9C7 CL E G H | 121214 | 29958 | ORPHA:313 | Lamellar ichthyosis | HP:0040281 - Very frequent | | | 2 | | |
HP:0100679 | HP:0100679 | Lack of skin elasticity | 0 | SMAD2 CL E G H | 4087 | 6768 | OMIM:619656 | LOEYS-DIETZ SYNDROME 6; LDS6 | | | | 7 | | |
HP:0100679 | HP:0100679 | Lack of skin elasticity | 0 | SMAD3 CL E G H | 4088 | 6769 | ORPHA:284984 | Aneurysm-osteoarthritis syndrome | | | | 260 | | |
HP:0100679 | HP:0100679 | Lack of skin elasticity | 0 | SMAD3 CL E G H | 4088 | 6769 | OMIM:613795 | LOEYS-DIETZ SYNDROME 3; LDS3 | | | | 260 | | |
HP:0100679 | HP:0100679 | Lack of skin elasticity | 0 | SMARCAD1 CL E G H | 56916 | 18398 | ORPHA:384 | Huriez syndrome | HP:0040281 - Very frequent | | | 6 | | |
HP:0100679 | HP:0100679 | Lack of skin elasticity | 0 | SPEN CL E G H | 23013 | 17575 | OMIM:619312 | RADIO-TARTAGLIA SYNDROME; RATARS | | | | 4 | | |
HP:0100679 | HP:0100679 | Lack of skin elasticity | 0 | SULT2B1 CL E G H | 6820 | 11459 | ORPHA:313 | Lamellar ichthyosis | HP:0040281 - Very frequent | | | 4 | | |
HP:0100679 | HP:0100679 | Lack of skin elasticity | 0 | TERT CL E G H | 7015 | 11730 | ORPHA:1501 | Adrenocortical carcinoma | | | | 238 | | |
HP:0100679 | HP:0100679 | Lack of skin elasticity | 0 | TGFB2 CL E G H | 7042 | 11768 | OMIM:614816 | LOEYS-DIETZ SYNDROME 4; LDS4 | | | | 162 | | |
HP:0100679 | HP:0100679 | Lack of skin elasticity | 0 | TGFBR1 CL E G H | 7046 | 11772 | ORPHA:60030 | Loeys-Dietz syndrome | | | | 239 | | |
HP:0100679 | HP:0100679 | Lack of skin elasticity | 0 | TGFBR2 CL E G H | 7048 | 11773 | ORPHA:60030 | Loeys-Dietz syndrome | | | | 253 | | |
HP:0100679 | HP:0100679 | Lack of skin elasticity | 0 | TGFBR2 CL E G H | 7048 | 11773 | OMIM:610168 | Loeys-Dietz syndrome 2 | | | | 253 | | |
HP:0100679 | HP:0100679 | Lack of skin elasticity | 0 | TGM1 CL E G H | 7051 | 11777 | ORPHA:281127 | Acral self-healing collodion baby | HP:0040281 - Very frequent | | | 98 | | |
HP:0100679 | HP:0100679 | Lack of skin elasticity | 0 | TGM1 CL E G H | 7051 | 11777 | ORPHA:313 | Lamellar ichthyosis | HP:0040281 - Very frequent | | | 98 | | |
HP:0100679 | HP:0100679 | Lack of skin elasticity | 0 | TP53 CL E G H | 7157 | 11998 | ORPHA:1501 | Adrenocortical carcinoma | | | | 911 | | |
HP:0100679 | HP:0100679 | Lack of skin elasticity | 0 | TP53 CL E G H | 7157 | 11998 | ORPHA:96253 | Cushing disease | | | | 911 | | |
HP:0100679 | HP:0100679 | Lack of skin elasticity | 0 | USP48 CL E G H | 84196 | 18533 | ORPHA:96253 | Cushing disease | | | | 1 | | |
HP:0100679 | HP:0100679 | Lack of skin elasticity | 0 | USP8 CL E G H | 9101 | 12631 | ORPHA:96253 | Cushing disease | | | | 7 | | |
HP:0100679 | HP:0100679 | Lack of skin elasticity | 0 | USP8 CL E G H | 9101 | 12631 | OMIM:219090 | Pituitary adenoma 4, ACTH-secreting, somatic | | | | 7 | | |
HP:0100679 | HP:0100679 | Lack of skin elasticity | 0 | WRN CL E G H | 7486 | 12791 | ORPHA:902 | Werner syndrome | HP:0040282 - Frequent | | | 310 | | |
HP:0100679 | HP:0100679 | Lack of skin elasticity | 0 | ZMPSTE24 CL E G H | 10269 | 12877 | ORPHA:740 | Hutchinson-Gilford progeria syndrome | HP:0040282 - Frequent | | | 83 | | |
HP:0100679 | HP:0100679 | Lack of skin elasticity | 0 | ZNRF3 CL E G H | 84133 | 18126 | ORPHA:1501 | Adrenocortical carcinoma | | | | | | |
HP:0100679 | HP:0001065 | Striae distensae | 1 | ABCC6 CL E G H | 368 | 57 | ORPHA:758 | Pseudoxanthoma elasticum | HP:0040282 - Frequent | | | 415 | | |
HP:0100679 | HP:0001065 | Striae distensae | 1 | AIP CL E G H | 9049 | 358 | OMIM:219090 | Pituitary adenoma 4, ACTH-secreting, somatic | . | | | 95 | | |
HP:0100679 | HP:0001065 | Striae distensae | 1 | ARMC5 CL E G H | 79798 | 25781 | ORPHA:189427 | Cushing syndrome due to macronodular adrenal hyperplasia | | | | 7 | | |
HP:0100679 | HP:0001065 | Striae distensae | 1 | ATRX CL E G H | 546 | 886 | ORPHA:96253 | Cushing disease | | | | 169 | | |
HP:0100679 | HP:0001065 | Striae distensae | 1 | BRAF CL E G H | 673 | 1097 | ORPHA:96253 | Cushing disease | | | | 276 | | |
HP:0100679 | HP:0001065 | Striae distensae | 1 | CDH23 CL E G H | 64072 | 13733 | ORPHA:96253 | Cushing disease | | | | 636 | | |
HP:0100679 | HP:0001065 | Striae distensae | 1 | CDKN2A CL E G H | 1029 | 1787 | ORPHA:1501 | Adrenocortical carcinoma | HP:0040282 - Frequent | | | 289 | | |
HP:0100679 | HP:0001065 | Striae distensae | 1 | COL1A1 CL E G H | 1277 | 2197 | ORPHA:287 | Classical Ehlers-Danlos syndrome | HP:0040281 - Very frequent | | | 373 | | |
HP:0100679 | HP:0001065 | Striae distensae | 1 | COL5A1 CL E G H | 1289 | 2209 | ORPHA:287 | Classical Ehlers-Danlos syndrome | HP:0040281 - Very frequent | | | 660 | | |
HP:0100679 | HP:0001065 | Striae distensae | 1 | COL5A1 CL E G H | 1289 | 2209 | OMIM:619329 | FIBROMUSCULAR DYSPLASIA, MULTIFOCAL; FMDMF | | | | 660 | | |
HP:0100679 | HP:0001065 | Striae distensae | 1 | COL5A2 CL E G H | 1290 | 2210 | ORPHA:287 | Classical Ehlers-Danlos syndrome | HP:0040281 - Very frequent | | | 325 | | |
HP:0100679 | HP:0001065 | Striae distensae | 1 | COPB1 CL E G H | 1315 | 2231 | OMIM:619255 | BARALLE-MACKEN SYNDROME; BARMACS | | | | | | |
HP:0100679 | HP:0001065 | Striae distensae | 1 | CTNNB1 CL E G H | 1499 | 2514 | ORPHA:1501 | Adrenocortical carcinoma | HP:0040282 - Frequent | | | 88 | | |
HP:0100679 | HP:0001065 | Striae distensae | 1 | CUL4B CL E G H | 8450 | 2555 | OMIM:300354 | Mental retardation, X-linked, syndromic, Cabezas type | . | | | 38 | | |
HP:0100679 | HP:0001065 | Striae distensae | 1 | DLG4 CL E G H | 1742 | 2903 | OMIM:618793 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 62; MRD62 | | | | 2 | | |
HP:0100679 | HP:0001065 | Striae distensae | 1 | ENPP1 CL E G H | 5167 | 3356 | ORPHA:758 | Pseudoxanthoma elasticum | HP:0040282 - Frequent | | | 151 | | |
HP:0100679 | HP:0001065 | Striae distensae | 1 | FBN1 CL E G H | 2200 | 3603 | OMIM:154700 | Marfan syndrome | | | | 1361 | | |
HP:0100679 | HP:0001065 | Striae distensae | 1 | FBN1 CL E G H | 2200 | 3603 | OMIM:604308 | MASS SYNDROME | | | | 1361 | | |
HP:0100679 | HP:0001065 | Striae distensae | 1 | FBN1 CL E G H | 2200 | 3603 | OMIM:608328 | Weill-Marchesani syndrome 2, dominant | | | | 1361 | | |
HP:0100679 | HP:0001065 | Striae distensae | 1 | GNAS CL E G H | 2778 | 4392 | OMIM:219080 | ACTH-independent macronodular adrenal hyperplasia | . | | | 101 | | |
HP:0100679 | HP:0001065 | Striae distensae | 1 | GNAS CL E G H | 2778 | 4392 | ORPHA:189427 | Cushing syndrome due to macronodular adrenal hyperplasia | | | | 101 | | |
HP:0100679 | HP:0001065 | Striae distensae | 1 | IPO8 CL E G H | 10526 | 9853 | ORPHA:60030 | Loeys-Dietz syndrome | HP:0040282 - Frequent | | | | | |
HP:0100679 | HP:0001065 | Striae distensae | 1 | NR3C1 CL E G H | 2908 | 7978 | ORPHA:96253 | Cushing disease | | | | 79 | | |
HP:0100679 | HP:0001065 | Striae distensae | 1 | PDE11A CL E G H | 50940 | 8773 | ORPHA:1359 | Carney complex | | | | 13 | | |
HP:0100679 | HP:0001065 | Striae distensae | 1 | PDE11A CL E G H | 50940 | 8773 | OMIM:610475 | Pigmented nodular adrenocortical disease, primary, 2 | . | | | 13 | | |
HP:0100679 | HP:0001065 | Striae distensae | 1 | PDE11A CL E G H | 50940 | 8773 | ORPHA:189439 | Primary pigmented nodular adrenocortical disease | HP:0040282 - Frequent | | | 13 | | |
HP:0100679 | HP:0001065 | Striae distensae | 1 | PDE8B CL E G H | 8622 | 8794 | ORPHA:189439 | Primary pigmented nodular adrenocortical disease | HP:0040282 - Frequent | | | 75 | | |
HP:0100679 | HP:0001065 | Striae distensae | 1 | PRKACA CL E G H | 5566 | 9380 | ORPHA:189439 | Primary pigmented nodular adrenocortical disease | HP:0040282 - Frequent | | | 2 | | |
HP:0100679 | HP:0001065 | Striae distensae | 1 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:1501 | Adrenocortical carcinoma | HP:0040282 - Frequent | | | 134 | | |
HP:0100679 | HP:0001065 | Striae distensae | 1 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:1359 | Carney complex | | | | 134 | | |
HP:0100679 | HP:0001065 | Striae distensae | 1 | PRKAR1A CL E G H | 5573 | 9388 | OMIM:610489 | Pigmented nodular adrenocortical disease, primary, 1 | . | | | 134 | | |
HP:0100679 | HP:0001065 | Striae distensae | 1 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:189439 | Primary pigmented nodular adrenocortical disease | HP:0040282 - Frequent | | | 134 | | |
HP:0100679 | HP:0001065 | Striae distensae | 1 | SMAD2 CL E G H | 4087 | 6768 | OMIM:619656 | LOEYS-DIETZ SYNDROME 6; LDS6 | | | | 7 | | |
HP:0100679 | HP:0001065 | Striae distensae | 1 | SMAD3 CL E G H | 4088 | 6769 | ORPHA:284984 | Aneurysm-osteoarthritis syndrome | HP:0040282 - Frequent | | | 260 | | |
HP:0100679 | HP:0001065 | Striae distensae | 1 | SMAD3 CL E G H | 4088 | 6769 | OMIM:613795 | LOEYS-DIETZ SYNDROME 3; LDS3 | | | | 260 | | |
HP:0100679 | HP:0001065 | Striae distensae | 1 | SPEN CL E G H | 23013 | 17575 | OMIM:619312 | RADIO-TARTAGLIA SYNDROME; RATARS | | | | 4 | | |
HP:0100679 | HP:0001065 | Striae distensae | 1 | TERT CL E G H | 7015 | 11730 | ORPHA:1501 | Adrenocortical carcinoma | HP:0040282 - Frequent | | | 238 | | |
HP:0100679 | HP:0001065 | Striae distensae | 1 | TGFB2 CL E G H | 7042 | 11768 | OMIM:614816 | LOEYS-DIETZ SYNDROME 4; LDS4 | | | | 162 | | |
HP:0100679 | HP:0001065 | Striae distensae | 1 | TGFBR1 CL E G H | 7046 | 11772 | ORPHA:60030 | Loeys-Dietz syndrome | HP:0040282 - Frequent | | | 239 | | |
HP:0100679 | HP:0001065 | Striae distensae | 1 | TGFBR2 CL E G H | 7048 | 11773 | ORPHA:60030 | Loeys-Dietz syndrome | HP:0040282 - Frequent | | | 253 | | |
HP:0100679 | HP:0001065 | Striae distensae | 1 | TGFBR2 CL E G H | 7048 | 11773 | OMIM:610168 | Loeys-Dietz syndrome 2 | | | | 253 | | |
HP:0100679 | HP:0001065 | Striae distensae | 1 | TP53 CL E G H | 7157 | 11998 | ORPHA:1501 | Adrenocortical carcinoma | HP:0040282 - Frequent | | | 911 | | |
HP:0100679 | HP:0001065 | Striae distensae | 1 | TP53 CL E G H | 7157 | 11998 | ORPHA:96253 | Cushing disease | | | | 911 | | |
HP:0100679 | HP:0001065 | Striae distensae | 1 | USP48 CL E G H | 84196 | 18533 | ORPHA:96253 | Cushing disease | | | | 1 | | |
HP:0100679 | HP:0001065 | Striae distensae | 1 | USP8 CL E G H | 9101 | 12631 | ORPHA:96253 | Cushing disease | | | | 7 | | |
HP:0100679 | HP:0001065 | Striae distensae | 1 | USP8 CL E G H | 9101 | 12631 | OMIM:219090 | Pituitary adenoma 4, ACTH-secreting, somatic | . | | | 7 | | |
HP:0100679 | HP:0001065 | Striae distensae | 1 | ZNRF3 CL E G H | 84133 | 18126 | ORPHA:1501 | Adrenocortical carcinoma | HP:0040282 - Frequent | | | | | |