Human Phenotype
Ontology
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Grandparent Node: Abnormal elasticity of skin (HP:0010647) | Parent Node: Soft skin (HP:0000977) | ..Starting node ..Soft, doughy skin (HP:0001027)
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Term ID: |
1027 |
Name: |
Soft, doughy skin |
Synonym: |
Soft, doughy skin |
Definition: |
A skin texture that is unusually soft (and may feel silky), and has a malleable consistency resembling that of dough. |
Comments: |
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Reference: |
HP:0001027 |
Genes and Diseases: | | Child Nodes: | Sister Nodes: | 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:0001027 | HP:0001027 | Soft, doughy skin | 0 | ADAMTS2 CL E G H | 9509 | 218 | OMIM:225410 | Ehlers-Danlos syndrome, type VII, autosomal recessive | . | | | 165 | | | HP:0001027 | HP:0001027 | Soft, doughy skin | 0 | B3GALT6 CL E G H | 126792 | 17978 | ORPHA:536467 | B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome | HP:0040281 - Very frequent | | | 38 | | | HP:0001027 | HP:0001027 | Soft, doughy skin | 0 | B3GALT6 CL E G H | 126792 | 17978 | OMIM:271640 | Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures | . | | | 38 | | | HP:0001027 | HP:0001027 | Soft, doughy skin | 0 | COL1A1 CL E G H | 1277 | 2197 | ORPHA:287 | Classical Ehlers-Danlos syndrome | HP:0040281 - Very frequent | | | 373 | | | HP:0001027 | HP:0001027 | Soft, doughy skin | 0 | COL1A2 CL E G H | 1278 | 2198 | ORPHA:230851 | Cardiac-valvular Ehlers-Danlos syndrome | HP:0040282 - Frequent | | | 243 | | | HP:0001027 | HP:0001027 | Soft, doughy skin | 0 | COL5A1 CL E G H | 1289 | 2209 | ORPHA:287 | Classical Ehlers-Danlos syndrome | HP:0040281 - Very frequent | | | 660 | | | HP:0001027 | HP:0001027 | Soft, doughy skin | 0 | COL5A1 CL E G H | 1289 | 2209 | OMIM:619329 | FIBROMUSCULAR DYSPLASIA, MULTIFOCAL; FMDMF | | | | 660 | | | HP:0001027 | HP:0001027 | Soft, doughy skin | 0 | COL5A2 CL E G H | 1290 | 2210 | ORPHA:287 | Classical Ehlers-Danlos syndrome | HP:0040281 - Very frequent | | | 325 | | | HP:0001027 | HP:0001027 | Soft, doughy skin | 0 | COL5A2 CL E G H | 1290 | 2210 | OMIM:130010 | Ehlers-Danlos syndrome, classic type, 2 | | | | 325 | | | HP:0001027 | HP:0001027 | Soft, doughy skin | 0 | IARS1 CL E G H | 3376 | 5330 | ORPHA:541423 | Growth delay-intellectual disability-hepatopathy syndrome | HP:0040283 - Occasional | | | | | | HP:0001027 | HP:0001027 | Soft, doughy skin | 0 | INPPL1 CL E G H | 3636 | 6080 | OMIM:258480 | OPSISMODYSPLASIA | | | | 18 | | | HP:0001027 | HP:0001027 | Soft, doughy skin | 0 | MGP CL E G H | 4256 | 7060 | ORPHA:85202 | Keutel syndrome | HP:0040283 - Occasional | | | 33 | | | HP:0001027 | HP:0001027 | Soft, doughy skin | 0 | MICU1 CL E G H | 10367 | 1530 | OMIM:615673 | Myopathy with extrapyramidal signs | | | | 14 | | | HP:0001027 | HP:0001027 | Soft, doughy skin | 0 | SLC2A10 CL E G H | 81031 | 13444 | OMIM:208050 | Arterial tortuosity syndrome | . | | | 178 | | | HP:0001027 | HP:0001027 | Soft, doughy skin | 0 | SON CL E G H | 6651 | 11183 | ORPHA:500150 | Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome | HP:0040283 - Occasional | | | 12 | | | HP:0001027 | HP:0001027 | Soft, doughy skin | 0 | XYLT1 CL E G H | 64131 | 15516 | ORPHA:370930 | XYLT1-CDG | HP:0040282 - Frequent | | | 14 | | |
Genes (13) :ADAMTS2 B3GALT6 COL1A1 COL1A2 COL5A1 COL5A2 IARS1 INPPL1 MGP MICU1 SLC2A10 SON XYLT1
Diseases (14) :OMIM:225410 ORPHA:536467 OMIM:271640 ORPHA:287 ORPHA:230851 OMIM:619329 OMIM:130010 ORPHA:541423 OMIM:258480 ORPHA:85202 OMIM:615673 OMIM:208050 ORPHA:500150 ORPHA:370930 |
Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.
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