Human Phenotype Ontology 
Grandparent Node:
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Abnormality of skin morphology (HP:0011121)help
Parent Node:
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Abnormal elasticity of skin (HP:0010647)help
..Starting node
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Soft skin (HP:0000977)help
Term ID: 977
Name: Soft skin
Synonym: Soft skin; Velvety skin; Velvety skin texture
Definition: Subjective impression of increased softness upon palpation of the skin.
Comments:
Reference: HP:0000977
Genes and Diseases:
 
       Child Nodes:
........expandSoft, doughy skin (HP:0001027) help

 Sister Nodes: 
..expandAbnormally lax or hyperextensible skin (HP:0008067) help
..expandLack of skin elasticity (HP:0100679) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000977HP:0000977Soft skin0ABL1 CL E G H2576OMIM:617602Congenital heart defects and skeletal malformations syndrome.51
HP:0000977HP:0000977Soft skin0ADAMTS2 CL E G H9509218OMIM:225410Ehlers-Danlos syndrome, type VII, autosomal recessive165
HP:0000977HP:0000977Soft skin0ATP6V1B2 CL E G H526854ORPHA:3473Zimmermann-Laband syndromeHP:0040283 - Occasional5
HP:0000977HP:0000977Soft skin0ATP7A CL E G H538869OMIM:304150Occipital horn syndrome.192
HP:0000977HP:0000977Soft skin0B3GALT6 CL E G H12679217978ORPHA:536467B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome38
HP:0000977HP:0000977Soft skin0B3GALT6 CL E G H12679217978OMIM:271640Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures38
HP:0000977HP:0000977Soft skin0C1R CL E G H7151246OMIM:130080Ehlers-Danlos syndrome, periodontal type, 1.15
HP:0000977HP:0000977Soft skin0COL12A1 CL E G H13032188ORPHA:536516Myopathic Ehlers-Danlos syndromeHP:0040283 - Occasional65
HP:0000977HP:0000977Soft skin0COL1A1 CL E G H12772197ORPHA:287Classical Ehlers-Danlos syndrome373
HP:0000977HP:0000977Soft skin0COL1A1 CL E G H12772197OMIM:130060Ehlers-Danlos syndrome, arthrochalasia type, 1.373
HP:0000977HP:0000977Soft skin0COL1A2 CL E G H12782198ORPHA:230851Cardiac-valvular Ehlers-Danlos syndrome243
HP:0000977HP:0000977Soft skin0COL1A2 CL E G H12782198OMIM:617821Ehlers-Danlos syndrome, arthrochalasia type, 2.243
HP:0000977HP:0000977Soft skin0COL1A2 CL E G H12782198OMIM:225320Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form.243
HP:0000977HP:0000977Soft skin0COL5A1 CL E G H12892209ORPHA:287Classical Ehlers-Danlos syndrome660
HP:0000977HP:0000977Soft skin0COL5A1 CL E G H12892209OMIM:130000Ehlers-danlos syndrome, type I660
HP:0000977HP:0000977Soft skin0COL5A1 CL E G H12892209OMIM:619329FIBROMUSCULAR DYSPLASIA, MULTIFOCAL; FMDMF660
HP:0000977HP:0000977Soft skin0COL5A2 CL E G H12902210ORPHA:287Classical Ehlers-Danlos syndrome325
HP:0000977HP:0000977Soft skin0COL5A2 CL E G H12902210OMIM:130010Ehlers-Danlos syndrome, classic type, 2325
HP:0000977HP:0000977Soft skin0EDA CL E G H18963157OMIM:305100Ectodermal dysplasia 1, hypohidrotic, X-linked.115
HP:0000977HP:0000977Soft skin0EFEMP2 CL E G H300083219OMIM:614437Cutis laxa, autosomal recessive, type IB.45
HP:0000977HP:0000977Soft skin0ELN CL E G H20063327OMIM:194050Williams-Beuren syndrome172
HP:0000977HP:0000977Soft skin0FKBP14 CL E G H5503318625OMIM:614557Ehlers-Danlos syndrome, kyphoscoliotic type, 2.13
HP:0000977HP:0000977Soft skin0IARS1 CL E G H33765330ORPHA:541423Growth delay-intellectual disability-hepatopathy syndrome
HP:0000977HP:0000977Soft skin0INPPL1 CL E G H36366080OMIM:258480OPSISMODYSPLASIA18
HP:0000977HP:0000977Soft skin0KCNH1 CL E G H37566250ORPHA:3473Zimmermann-Laband syndromeHP:0040283 - Occasional13
HP:0000977HP:0000977Soft skin0KCNN3 CL E G H37826292ORPHA:3473Zimmermann-Laband syndromeHP:0040283 - Occasional7
HP:0000977HP:0000977Soft skin0KIF22 CL E G H38356391OMIM:603546Spondyloepimetaphyseal dysplasia with joint laxity, type 2.14
HP:0000977HP:0000977Soft skin0MAN2B1 CL E G H41256826ORPHA:309282Alpha-mannosidosis, infantile formHP:0040283 - Occasional136
HP:0000977HP:0000977Soft skin0MAP3K7 CL E G H68856859OMIM:157800Cardiospondylocarpofacial syndrome11
HP:0000977HP:0000977Soft skin0MGP CL E G H42567060ORPHA:85202Keutel syndrome33
HP:0000977HP:0000977Soft skin0MICU1 CL E G H103671530OMIM:615673Myopathy with extrapyramidal signs14
HP:0000977HP:0000977Soft skin0MLXIPL CL E G H5108512744OMIM:194050Williams-Beuren syndrome1
HP:0000977HP:0000977Soft skin0MTAP CL E G H45077413OMIM:112250Diaphyseal medullary stenosis with malignant fibrous histiocytomaHP:0040283 - Occasional85
HP:0000977HP:0000977Soft skin0PAX2 CL E G H50768616OMIM:120330Papillorenal syndrome.39
HP:0000977HP:0000977Soft skin0PIGQ CL E G H909114135OMIM:618548MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4; MCAHS43
HP:0000977HP:0000977Soft skin0PLOD1 CL E G H53519081OMIM:225400Ehlers-Danlos syndrome, kyphoscoliotic type, 1105
HP:0000977HP:0000977Soft skin0PRDM5 CL E G H111079349ORPHA:90354Brittle cornea syndromeHP:0040281 - Very frequent58
HP:0000977HP:0000977Soft skin0RIN2 CL E G H5445318750OMIM:613075Macs syndrome43
HP:0000977HP:0000977Soft skin0SLC2A10 CL E G H8103113444OMIM:208050Arterial tortuosity syndrome178
HP:0000977HP:0000977Soft skin0SMAD3 CL E G H40886769OMIM:613795LOEYS-DIETZ SYNDROME 3; LDS3260
HP:0000977HP:0000977Soft skin0SON CL E G H665111183ORPHA:500150Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome12
HP:0000977HP:0000977Soft skin0SPARC CL E G H667811219OMIM:616507Osteogenesis imperfecta, type XVII.2
HP:0000977HP:0000977Soft skin0TGFBR1 CL E G H704611772OMIM:609192Loeys-Dietz syndrome 1239
HP:0000977HP:0000977Soft skin0TGFBR2 CL E G H704811773OMIM:610168Loeys-Dietz syndrome 2253
HP:0000977HP:0000977Soft skin0TNXB CL E G H714811976OMIM:606408Ehlers-Danlos syndrome, classic-like.134
HP:0000977HP:0000977Soft skin0XYLT1 CL E G H6413115516ORPHA:370930XYLT1-CDG14
HP:0000977HP:0000977Soft skin0ZNF469 CL E G H8462723216ORPHA:90354Brittle cornea syndromeHP:0040281 - Very frequent397
HP:0000977HP:0001027Soft, doughy skin1ADAMTS2 CL E G H9509218OMIM:225410Ehlers-Danlos syndrome, type VII, autosomal recessive.165
HP:0000977HP:0001027Soft, doughy skin1B3GALT6 CL E G H12679217978ORPHA:536467B3GALT6-related spondylodysplastic Ehlers-Danlos syndromeHP:0040281 - Very frequent38
HP:0000977HP:0001027Soft, doughy skin1B3GALT6 CL E G H12679217978OMIM:271640Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures.38
HP:0000977HP:0001027Soft, doughy skin1COL1A1 CL E G H12772197ORPHA:287Classical Ehlers-Danlos syndromeHP:0040281 - Very frequent373
HP:0000977HP:0001027Soft, doughy skin1COL1A2 CL E G H12782198ORPHA:230851Cardiac-valvular Ehlers-Danlos syndromeHP:0040282 - Frequent243
HP:0000977HP:0001027Soft, doughy skin1COL5A1 CL E G H12892209ORPHA:287Classical Ehlers-Danlos syndromeHP:0040281 - Very frequent660
HP:0000977HP:0001027Soft, doughy skin1COL5A1 CL E G H12892209OMIM:619329FIBROMUSCULAR DYSPLASIA, MULTIFOCAL; FMDMF660
HP:0000977HP:0001027Soft, doughy skin1COL5A2 CL E G H12902210ORPHA:287Classical Ehlers-Danlos syndromeHP:0040281 - Very frequent325
HP:0000977HP:0001027Soft, doughy skin1COL5A2 CL E G H12902210OMIM:130010Ehlers-Danlos syndrome, classic type, 2325
HP:0000977HP:0001027Soft, doughy skin1IARS1 CL E G H33765330ORPHA:541423Growth delay-intellectual disability-hepatopathy syndromeHP:0040283 - Occasional
HP:0000977HP:0001027Soft, doughy skin1INPPL1 CL E G H36366080OMIM:258480OPSISMODYSPLASIA18
HP:0000977HP:0001027Soft, doughy skin1MGP CL E G H42567060ORPHA:85202Keutel syndromeHP:0040283 - Occasional33
HP:0000977HP:0001027Soft, doughy skin1MICU1 CL E G H103671530OMIM:615673Myopathy with extrapyramidal signs14
HP:0000977HP:0001027Soft, doughy skin1SLC2A10 CL E G H8103113444OMIM:208050Arterial tortuosity syndrome.178
HP:0000977HP:0001027Soft, doughy skin1SON CL E G H665111183ORPHA:500150Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndromeHP:0040283 - Occasional12
HP:0000977HP:0001027Soft, doughy skin1XYLT1 CL E G H6413115516ORPHA:370930XYLT1-CDGHP:0040282 - Frequent14


Genes (40) :ABL1 ADAMTS2 ATP6V1B2 ATP7A B3GALT6 C1R COL12A1 COL1A1 COL1A2 COL5A1 COL5A2 EDA EFEMP2 ELN FKBP14 IARS1 INPPL1 KCNH1 KCNN3 KIF22 MAN2B1 MAP3K7 MGP MICU1 MLXIPL MTAP PAX2 PIGQ PLOD1 PRDM5 RIN2 SLC2A10 SMAD3 SON SPARC TGFBR1 TGFBR2 TNXB XYLT1 ZNF469

Diseases (41) :OMIM:617602 OMIM:225410 ORPHA:3473 OMIM:304150 ORPHA:536467 OMIM:271640 OMIM:130080 ORPHA:536516 ORPHA:287 OMIM:130060 ORPHA:230851 OMIM:617821 OMIM:225320 OMIM:130000 OMIM:619329 OMIM:130010 OMIM:305100 OMIM:614437 OMIM:194050 OMIM:614557 ORPHA:541423 OMIM:258480 OMIM:603546 ORPHA:309282 OMIM:157800 ORPHA:85202 OMIM:615673 OMIM:112250 OMIM:120330 OMIM:618548 OMIM:225400 ORPHA:90354 OMIM:613075 OMIM:208050 OMIM:613795 ORPHA:500150 OMIM:616507 OMIM:609192 OMIM:610168 OMIM:606408 ORPHA:370930
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.