Human Phenotype Ontology 
Grandparent Node:
expand
Abnormal elasticity of skin (HP:0010647)help
Parent Node:
expand
Soft skin (HP:0000977)help
..Starting node
..expand
Soft, doughy skin (HP:0001027)help
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:
Reference: HP:0001027
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001027HP:0001027Soft, doughy skin0ADAMTS2 CL E G H9509218OMIM:225410Ehlers-Danlos syndrome, type VII, autosomal recessive.165
HP:0001027HP:0001027Soft, doughy skin0B3GALT6 CL E G H12679217978ORPHA:536467B3GALT6-related spondylodysplastic Ehlers-Danlos syndromeHP:0040281 - Very frequent38
HP:0001027HP:0001027Soft, doughy skin0B3GALT6 CL E G H12679217978OMIM:271640Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures.38
HP:0001027HP:0001027Soft, doughy skin0COL1A1 CL E G H12772197ORPHA:287Classical Ehlers-Danlos syndromeHP:0040281 - Very frequent373
HP:0001027HP:0001027Soft, doughy skin0COL1A2 CL E G H12782198ORPHA:230851Cardiac-valvular Ehlers-Danlos syndromeHP:0040282 - Frequent243
HP:0001027HP:0001027Soft, doughy skin0COL5A1 CL E G H12892209ORPHA:287Classical Ehlers-Danlos syndromeHP:0040281 - Very frequent660
HP:0001027HP:0001027Soft, doughy skin0COL5A1 CL E G H12892209OMIM:619329FIBROMUSCULAR DYSPLASIA, MULTIFOCAL; FMDMF660
HP:0001027HP:0001027Soft, doughy skin0COL5A2 CL E G H12902210ORPHA:287Classical Ehlers-Danlos syndromeHP:0040281 - Very frequent325
HP:0001027HP:0001027Soft, doughy skin0COL5A2 CL E G H12902210OMIM:130010Ehlers-Danlos syndrome, classic type, 2325
HP:0001027HP:0001027Soft, doughy skin0IARS1 CL E G H33765330ORPHA:541423Growth delay-intellectual disability-hepatopathy syndromeHP:0040283 - Occasional
HP:0001027HP:0001027Soft, doughy skin0INPPL1 CL E G H36366080OMIM:258480OPSISMODYSPLASIA18
HP:0001027HP:0001027Soft, doughy skin0MGP CL E G H42567060ORPHA:85202Keutel syndromeHP:0040283 - Occasional33
HP:0001027HP:0001027Soft, doughy skin0MICU1 CL E G H103671530OMIM:615673Myopathy with extrapyramidal signs14
HP:0001027HP:0001027Soft, doughy skin0SLC2A10 CL E G H8103113444OMIM:208050Arterial tortuosity syndrome.178
HP:0001027HP:0001027Soft, doughy skin0SON CL E G H665111183ORPHA:500150Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndromeHP:0040283 - Occasional12
HP:0001027HP:0001027Soft, doughy skin0XYLT1 CL E G H6413115516ORPHA:370930XYLT1-CDGHP:0040282 - Frequent14


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.