Human Phenotype Ontology 
Grandparent Node:
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Abnormal elasticity of skin (HP:0010647)help
Parent Node:
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Dermal atrophy (HP:0004334)help
Parent Node:
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Lack of skin elasticity (HP:0100679)help
..Starting node
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Striae distensae (HP:0001065)help
Term ID: 1065
Name: Striae distensae
Synonym: Purplish striae; Stretch marks; Striae; Striae atrophicae; Striae cutis distensae
Definition: Thinned, erythematous, depressed bands of atrophic skin. Initially, striae appear as flattened and thinned, pinkish linear regions of the skin. Striae tend to enlarge in length and become reddish or purplish. Later, striae tend to appear as white, depressed bands that are parallel to the lines of skin tension. Striae distensae occur most often in areas that have been subject to distension such as the lower back, buttocks, thighs, breast, abdomen, and shoulders.
Comments:
Reference: HP:0001065
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0001065HP:0001065Striae distensae0ABCC6 CL E G H368758Apo A-I deficiencyORPHA138082157603234
HP:0001065HP:0001065Striae distensae0AIP CL E G H9049219090Pituitary dependent hypercortisolism219090C0221406OMIM1112273358605555
HP:0001065HP:0001065Striae distensae0COL1A1 CL E G H1277287ORPHA196711052197120150
HP:0001065HP:0001065Striae distensae0COL5A1 CL E G H1289287ORPHA115916302209120215
HP:0001065HP:0001065Striae distensae0COL5A2 CL E G H1290287ORPHA1397932210120190
HP:0001065HP:0001065Striae distensae0CUL4B CL E G H8450300354Syndromic X-linked mental retardation, Cabezas type300354C1845861OMIM1402472555300304
HP:0001065HP:0001065Striae distensae0ENPP1 CL E G H5167758Apo A-I deficiencyORPHA1772743356173335
HP:0001065HP:0001065Striae distensae0FBN1 CL E G H2200154700Marfan syndrome154700C0024796OMIM1272142843603134797
HP:0001065HP:0001065Striae distensae0FBN1 CL E G H2200604308MASS syndrome604308C1858556OMIM1272142843603134797
HP:0001065HP:0001065Striae distensae0GNAS CL E G H2778219080Cushing's syndrome219080C1857451OMIM12792164392139320
HP:0001065HP:0001065Striae distensae0PDE11A CL E G H50940610475Pigmented nodular adrenocortical disease, primary, 2610475C1864851OMIM1201148773604961
HP:0001065HP:0001065Striae distensae0PDE11A CL E G H50940189439Primary pigmented nodular adrenocortical diseaseCN200645ORPHA1201148773604961
HP:0001065HP:0001065Striae distensae0PDE8B CL E G H8622189439Primary pigmented nodular adrenocortical diseaseCN200645ORPHA1111348794603390
HP:0001065HP:0001065Striae distensae0PRKACA CL E G H5566189439Primary pigmented nodular adrenocortical diseaseCN200645ORPHA14309380601639
HP:0001065HP:0001065Striae distensae0PRKAR1A CL E G H5573610489Pigmented nodular adrenocortical disease, primary, 1610489C1864846OMIM11884519388188830
HP:0001065HP:0001065Striae distensae0PRKAR1A CL E G H5573189439Primary pigmented nodular adrenocortical diseaseCN200645ORPHA11884519388188830
HP:0001065HP:0001065Striae distensae0SH3BP2 CL E G H6452118400Fibrous dysplasia of jaw118400C0008029OMIM11641110825602104
HP:0001065HP:0001065Striae distensae0SMAD3 CL E G H4088284984ORPHA1955926769603109
HP:0001065HP:0001065Striae distensae0TGFBR1 CL E G H704660030ORPHA17954111772190181
HP:0001065HP:0001065Striae distensae0TGFBR2 CL E G H704860030ORPHA114857211773190182
HP:0001065HP:0001065Striae distensae0TGFBR2 CL E G H7048610168Loeys-Dietz syndrome 2610168C2674876OMIM114857211773190182
HP:0001065HP:0001065Striae distensae0TP53 CL E G H71571501ORPHA1541203511998191170
HP:0001065HP:0001065Striae distensae0USP8 CL E G H9101219090Pituitary dependent hypercortisolism219090C0221406OMIM118512631603158
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001065HP:0001065Striae distensae0SMAD3 CL E G H4088613795Loeys-Dietz syndrome 3613795C3151087OMIM0955926769603109


Genes (19) :ABCC6 AIP COL1A1 COL5A1 COL5A2 CUL4B ENPP1 FBN1 GNAS PDE11A PDE8B PRKACA PRKAR1A SH3BP2 SMAD3 TGFBR1 TGFBR2 TP53 USP8

Diseases (16) :758 219090 287 300354 154700 604308 219080 610475 189439 610489 118400 284984 613795 60030 610168 1501
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is June 2019 release.