Human Phenotype Ontology 
Grandparent Node:
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Phenotypic abnormality (HP:0000118)help
Parent Node:
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Abnormality of connective tissue (HP:0003549)help
..Starting node
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Scarring (HP:0100699)help
Term ID: 100699
Name: Scarring
Synonym: Scar tissue; Scarring
Definition: A scar refers to a lesion in which wound, burn, or sore has not healed completely and fibrous connective tissue has developed.
Comments:
Reference: HP:0100699
Genes and Diseases:
 
       Child Nodes:
........expandCorneal scarring (HP:0000559) help
........expandAtypical scarring of skin (HP:0000987) help
................... HP:0001075 Atrophic scars
................... HP:0004552 Scarring alopecia of scalp
................... HP:0010562 Keloids
................... HP:0100837 Atrophodermia vermiculata
........expandChorioretinal scar (HP:0007777) help
........expandMacular scar (HP:0200056) help
................... HP:0025094 Disciform macular scar

 Sister Nodes: 
..expandAbnormal adipose tissue morphology (HP:0009124) help
..expandAbnormal mast cell morphology (HP:0100494) help
..expandAbnormal odontoid tissue morphology (HP:3000050) help
..expandAbnormal Sharpey fiber morphology (HP:0100685) help
..expandAbnormality of the fascia (HP:0100536) help
..expandCellulitis (HP:0100658) help
..expandCongenital mesoblastic nephroma (HP:0100881) help
..expandConnective tissue nevi (HP:0100898) help
..expandFlexion contracture (HP:0001371) help
..expandHernia (HP:0100790) help
..expandIncreased connective tissue (HP:0009025) help
..expandMusculotendinous retraction (HP:0031462) 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:0100699HP:0100699Scarring0ABCA4 CL E G H2434ORPHA:791Retinitis pigmentosa826
HP:0100699HP:0100699Scarring0ADA2 CL E G H518161839OMIM:182410Sneddon syndrome22
HP:0100699HP:0100699Scarring0ADAMTS2 CL E G H9509218ORPHA:1901Dermatosparaxis Ehlers-Danlos syndromeHP:0040281 - Very frequent165
HP:0100699HP:0100699Scarring0ADAMTSL2 CL E G H971914631ORPHA:1901Dermatosparaxis Ehlers-Danlos syndromeHP:0040281 - Very frequent72
HP:0100699HP:0100699Scarring0AEBP1 CL E G H165303ORPHA:536532Classical-like Ehlers-Danlos syndrome type 2
HP:0100699HP:0100699Scarring0AEBP1 CL E G H165303OMIM:618000Ehlers-Danlos syndrome, classic-like, 2
HP:0100699HP:0100699Scarring0AGBL5 CL E G H6050926147ORPHA:791Retinitis pigmentosa2
HP:0100699HP:0100699Scarring0AHI1 CL E G H5480621575ORPHA:791Retinitis pigmentosa175
HP:0100699HP:0100699Scarring0AHR CL E G H196348ORPHA:791Retinitis pigmentosa2
HP:0100699HP:0100699Scarring0APC CL E G H324583OMIM:175100Adenomatous polyposis coli3179
HP:0100699HP:0100699Scarring0APC CL E G H324583ORPHA:79665Gardner syndrome3179
HP:0100699HP:0100699Scarring0ARHGEF18 CL E G H2337017090ORPHA:791Retinitis pigmentosa6
HP:0100699HP:0100699Scarring0ARL2BP CL E G H2356817146ORPHA:791Retinitis pigmentosa3
HP:0100699HP:0100699Scarring0ARL3 CL E G H403694ORPHA:791Retinitis pigmentosa1
HP:0100699HP:0100699Scarring0ARL6 CL E G H8410013210ORPHA:791Retinitis pigmentosa29
HP:0100699HP:0100699Scarring0ATP7A CL E G H538869ORPHA:565Menkes disease192
HP:0100699HP:0100699Scarring0ATP7A CL E G H538869ORPHA:198Occipital horn syndromeHP:0040282 - Frequent192
HP:0100699HP:0100699Scarring0B3GALT6 CL E G H12679217978ORPHA:536467B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome38
HP:0100699HP:0100699Scarring0B4GALT7 CL E G H11285930ORPHA:75496B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome29
HP:0100699HP:0100699Scarring0B4GALT7 CL E G H11285930OMIM:130070Ehlers-Danlos syndrome, spondylodysplastic type, 129
HP:0100699HP:0100699Scarring0BBS1 CL E G H582966ORPHA:791Retinitis pigmentosa114
HP:0100699HP:0100699Scarring0BBS2 CL E G H583967ORPHA:791Retinitis pigmentosa97
HP:0100699HP:0100699Scarring0BEST1 CL E G H743912703ORPHA:791Retinitis pigmentosa182
HP:0100699HP:0100699Scarring0BTNL2 CL E G H562441142ORPHA:797SarcoidosisHP:0040283 - Occasional1
HP:0100699HP:0100699Scarring0C1R CL E G H7151246OMIM:130080Ehlers-Danlos syndrome, periodontal type, 115
HP:0100699HP:0100699Scarring0C1R CL E G H7151246ORPHA:75392Periodontal Ehlers-Danlos syndrome15
HP:0100699HP:0100699Scarring0C1S CL E G H7161247ORPHA:75392Periodontal Ehlers-Danlos syndrome7
HP:0100699HP:0100699Scarring0CA4 CL E G H7621375ORPHA:791Retinitis pigmentosa23
HP:0100699HP:0100699Scarring0CARMIL2 CL E G H14620627089OMIM:618131IMMUNODEFICIENCY 58; IMD583
HP:0100699HP:0100699Scarring0CDHR1 CL E G H9221114550ORPHA:791Retinitis pigmentosa147
HP:0100699HP:0100699Scarring0CERKL CL E G H37529821699ORPHA:791Retinitis pigmentosa71
HP:0100699HP:0100699Scarring0CFAP418 CL E G H15765727232ORPHA:791Retinitis pigmentosa
HP:0100699HP:0100699Scarring0CFI CL E G H34265394OMIM:615439Macular degeneration, age-related, 1357
HP:0100699HP:0100699Scarring0CHST14 CL E G H11318924464OMIM:601776Ehlers-Danlos syndrome, musculocontractural type 1.27
HP:0100699HP:0100699Scarring0CHST14 CL E G H11318924464ORPHA:2953Musculocontractural Ehlers-Danlos syndrome27
HP:0100699HP:0100699Scarring0CLDN1 CL E G H90762032ORPHA:59303Neonatal ichthyosis-sclerosing cholangitis syndrome11
HP:0100699HP:0100699Scarring0CLRN1 CL E G H740112605ORPHA:791Retinitis pigmentosa60
HP:0100699HP:0100699Scarring0CNGA1 CL E G H12592148ORPHA:791Retinitis pigmentosa44
HP:0100699HP:0100699Scarring0CNGB1 CL E G H12582151ORPHA:791Retinitis pigmentosa164
HP:0100699HP:0100699Scarring0COL12A1 CL E G H13032188ORPHA:610Bethlem myopathy65
HP:0100699HP:0100699Scarring0COL12A1 CL E G H13032188OMIM:616471Bethlem myopathy 265
HP:0100699HP:0100699Scarring0COL17A1 CL E G H13082194OMIM:619787EPIDERMOLYSIS BULLOSA, JUNCTIONAL 4, INTERMEDIATE; JEB4129
HP:0100699HP:0100699Scarring0COL17A1 CL E G H13082194ORPHA:293381Epithelial recurrent erosion dystrophy129
HP:0100699HP:0100699Scarring0COL17A1 CL E G H13082194ORPHA:79402Intermediate generalized junctional epidermolysis bullosa129
HP:0100699HP:0100699Scarring0COL17A1 CL E G H13082194ORPHA:251393Localized junctional epidermolysis bullosa129
HP:0100699HP:0100699Scarring0COL1A1 CL E G H12772197ORPHA:1899Arthrochalasia Ehlers-Danlos syndromeHP:0040281 - Very frequent373
HP:0100699HP:0100699Scarring0COL1A1 CL E G H12772197ORPHA:287Classical Ehlers-Danlos syndrome373
HP:0100699HP:0100699Scarring0COL1A1 CL E G H12772197OMIM:130060Ehlers-Danlos syndrome, arthrochalasia type, 1373
HP:0100699HP:0100699Scarring0COL1A2 CL E G H12782198ORPHA:1899Arthrochalasia Ehlers-Danlos syndromeHP:0040281 - Very frequent243
HP:0100699HP:0100699Scarring0COL1A2 CL E G H12782198ORPHA:230851Cardiac-valvular Ehlers-Danlos syndrome243
HP:0100699HP:0100699Scarring0COL1A2 CL E G H12782198OMIM:617821Ehlers-Danlos syndrome, arthrochalasia type, 2243
HP:0100699HP:0100699Scarring0COL1A2 CL E G H12782198OMIM:225320Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form243
HP:0100699HP:0100699Scarring0COL3A1 CL E G H12812201OMIM:130050Ehlers-Danlos syndrome, Vascular type749
HP:0100699HP:0100699Scarring0COL3A1 CL E G H12812201OMIM:618343Polymicrogyria with or without vascular-type ehlers-danlos syndrome749
HP:0100699HP:0100699Scarring0COL3A1 CL E G H12812201ORPHA:286Vascular Ehlers-Danlos syndrome749
HP:0100699HP:0100699Scarring0COL5A1 CL E G H12892209ORPHA:287Classical Ehlers-Danlos syndrome660
HP:0100699HP:0100699Scarring0COL5A1 CL E G H12892209OMIM:130000Ehlers-danlos syndrome, type I660
HP:0100699HP:0100699Scarring0COL5A1 CL E G H12892209OMIM:619329FIBROMUSCULAR DYSPLASIA, MULTIFOCAL; FMDMF660
HP:0100699HP:0100699Scarring0COL5A2 CL E G H12902210ORPHA:287Classical Ehlers-Danlos syndrome325
HP:0100699HP:0100699Scarring0COL5A2 CL E G H12902210OMIM:130010Ehlers-Danlos syndrome, classic type, 2325
HP:0100699HP:0100699Scarring0COL6A1 CL E G H12912211ORPHA:610Bethlem myopathy442
HP:0100699HP:0100699Scarring0COL6A2 CL E G H12922212ORPHA:610Bethlem myopathy478
HP:0100699HP:0100699Scarring0COL6A3 CL E G H12932213ORPHA:610Bethlem myopathy702
HP:0100699HP:0100699Scarring0COL7A1 CL E G H12942214ORPHA:231568Autosomal dominant generalized dystrophic epidermolysis bullosa263
HP:0100699HP:0100699Scarring0COL7A1 CL E G H12942214ORPHA:89842Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form263
HP:0100699HP:0100699Scarring0COL7A1 CL E G H12942214ORPHA:79408Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form263
HP:0100699HP:0100699Scarring0COL7A1 CL E G H12942214ORPHA:89843Dystrophic epidermolysis bullosa pruriginosaHP:0040283 - Occasional263
HP:0100699HP:0100699Scarring0COL7A1 CL E G H12942214OMIM:131750Epidermolysis bullosa dystrophica, autosomal dominant263
HP:0100699HP:0100699Scarring0COL7A1 CL E G H12942214OMIM:226600Epidermolysis bullosa dystrophica, autosomal recessive263
HP:0100699HP:0100699Scarring0COL7A1 CL E G H12942214ORPHA:79410Localized dystrophic epidermolysis bullosa, pretibial form263
HP:0100699HP:0100699Scarring0COL7A1 CL E G H12942214ORPHA:79409Recessive dystrophic epidermolysis bullosa inversa263
HP:0100699HP:0100699Scarring0COL7A1 CL E G H12942214ORPHA:79411Self-improving dystrophic epidermolysis bullosa263
HP:0100699HP:0100699Scarring0COL7A1 CL E G H12942214OMIM:131705Transient bullous dermolysis of the newborn263
HP:0100699HP:0100699Scarring0CPOX CL E G H13712321ORPHA:79273Hereditary coproporphyria72
HP:0100699HP:0100699Scarring0CRB1 CL E G H234182343ORPHA:791Retinitis pigmentosa156
HP:0100699HP:0100699Scarring0CREBBP CL E G H13872348OMIM:180849Rubinstein-Taybi syndrome 1291
HP:0100699HP:0100699Scarring0CREBBP CL E G H13872348ORPHA:353281Rubinstein-Taybi syndrome due to 16p13.3 microdeletion291
HP:0100699HP:0100699Scarring0CREBBP CL E G H13872348ORPHA:353277Rubinstein-Taybi syndrome due to CREBBP mutations291
HP:0100699HP:0100699Scarring0CRX CL E G H14062383ORPHA:791Retinitis pigmentosa158
HP:0100699HP:0100699Scarring0CTSC CL E G H10752528ORPHA:678Papillon-Lefèvre syndrome50
HP:0100699HP:0100699Scarring0CYP26C1 CL E G H34066520577ORPHA:398189Focal facial dermal dysplasia type IVHP:0040282 - Frequent2
HP:0100699HP:0100699Scarring0DHDDS CL E G H7994720603ORPHA:791Retinitis pigmentosa47
HP:0100699HP:0100699Scarring0DHX38 CL E G H978517211ORPHA:791Retinitis pigmentosa1
HP:0100699HP:0100699Scarring0DSE CL E G H2994021144ORPHA:2953Musculocontractural Ehlers-Danlos syndrome13
HP:0100699HP:0100699Scarring0DST CL E G H6671090OMIM:614653Neuropathy, hereditary sensory and autonomic, type VI108
HP:0100699HP:0100699Scarring0EBP CL E G H106823133ORPHA:35173X-linked dominant chondrodysplasia punctata51
HP:0100699HP:0100699Scarring0ECM1 CL E G H18933153ORPHA:530Lipoid proteinosisHP:0040281 - Very frequent14
HP:0100699HP:0100699Scarring0ECM1 CL E G H18933153OMIM:247100Urbach-Wiethe disease14
HP:0100699HP:0100699Scarring0EP300 CL E G H20333373OMIM:180849Rubinstein-Taybi syndrome 1250
HP:0100699HP:0100699Scarring0EP300 CL E G H20333373ORPHA:353284Rubinstein-Taybi syndrome due to EP300 haploinsufficiency250
HP:0100699HP:0100699Scarring0EPHB4 CL E G H20503395ORPHA:90186Meige disease3
HP:0100699HP:0100699Scarring0ERCC1 CL E G H20673433ORPHA:90322Cockayne syndrome type 2HP:0040283 - Occasional20
HP:0100699HP:0100699Scarring0ERCC4 CL E G H20723436ORPHA:90321Cockayne syndrome type 1HP:0040283 - Occasional158
HP:0100699HP:0100699Scarring0ERCC4 CL E G H20723436OMIM:610965XFE progeroid syndrome158
HP:0100699HP:0100699Scarring0ERCC6 CL E G H20743438ORPHA:90321Cockayne syndrome type 1HP:0040283 - Occasional199
HP:0100699HP:0100699Scarring0ERCC6 CL E G H20743438ORPHA:90322Cockayne syndrome type 2HP:0040283 - Occasional199
HP:0100699HP:0100699Scarring0ERCC6 CL E G H20743438OMIM:133540Cockayne syndrome, type B199
HP:0100699HP:0100699Scarring0ERCC8 CL E G H11613439OMIM:216400Cockayne syndrome A55
HP:0100699HP:0100699Scarring0ERCC8 CL E G H11613439ORPHA:90321Cockayne syndrome type 1HP:0040283 - Occasional55
HP:0100699HP:0100699Scarring0ERCC8 CL E G H11613439ORPHA:90322Cockayne syndrome type 2HP:0040283 - Occasional55
HP:0100699HP:0100699Scarring0EYS CL E G H34600721555ORPHA:791Retinitis pigmentosa209
HP:0100699HP:0100699Scarring0FAM161A CL E G H8414025808ORPHA:791Retinitis pigmentosa56
HP:0100699HP:0100699Scarring0FERMT1 CL E G H5561215889ORPHA:2908Kindler epidermolysis bullosa136
HP:0100699HP:0100699Scarring0FKBP14 CL E G H5503318625ORPHA:300179Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency13
HP:0100699HP:0100699Scarring0FLNA CL E G H23163754ORPHA:1826Frontometaphyseal dysplasia493
HP:0100699HP:0100699Scarring0FSCN2 CL E G H257943960ORPHA:791Retinitis pigmentosa26
HP:0100699HP:0100699Scarring0GATA1 CL E G H26234170ORPHA:79277Congenital erythropoietic porphyriaHP:0040282 - Frequent29
HP:0100699HP:0100699Scarring0GJB2 CL E G H27064284OMIM:602540Ichthyosis, hystrix-like, with deafness199
HP:0100699HP:0100699Scarring0GJB2 CL E G H27064284OMIM:148210Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant199
HP:0100699HP:0100699Scarring0GJB2 CL E G H27064284ORPHA:477KID syndrome199
HP:0100699HP:0100699Scarring0GJB6 CL E G H108044288ORPHA:477KID syndrome56
HP:0100699HP:0100699Scarring0GUCA1B CL E G H29794679ORPHA:791Retinitis pigmentosa36
HP:0100699HP:0100699Scarring0HGSNAT CL E G H13805026527ORPHA:791Retinitis pigmentosa86
HP:0100699HP:0100699Scarring0HLA-A CL E G H31054931ORPHA:179Birdshot chorioretinopathy4
HP:0100699HP:0100699Scarring0HLA-DRB1 CL E G H31234948ORPHA:797SarcoidosisHP:0040283 - Occasional2
HP:0100699HP:0100699Scarring0IDH3A CL E G H34195384ORPHA:791Retinitis pigmentosa
HP:0100699HP:0100699Scarring0IDH3B CL E G H34205385ORPHA:791Retinitis pigmentosa30
HP:0100699HP:0100699Scarring0IFT140 CL E G H974229077ORPHA:791Retinitis pigmentosa148
HP:0100699HP:0100699Scarring0IFT172 CL E G H2616030391ORPHA:791Retinitis pigmentosa48
HP:0100699HP:0100699Scarring0IFT88 CL E G H810020606ORPHA:791Retinitis pigmentosa3
HP:0100699HP:0100699Scarring0IKBKG CL E G H85175961OMIM:308300Incontinentia pigmenti.52
HP:0100699HP:0100699Scarring0IMPDH1 CL E G H36146052ORPHA:791Retinitis pigmentosa52
HP:0100699HP:0100699Scarring0IMPG1 CL E G H36176055ORPHA:791Retinitis pigmentosa4
HP:0100699HP:0100699Scarring0IMPG2 CL E G H5093918362ORPHA:791Retinitis pigmentosa120
HP:0100699HP:0100699Scarring0IPO8 CL E G H105269853ORPHA:60030Loeys-Dietz syndrome
HP:0100699HP:0100699Scarring0ITGB4 CL E G H36916158ORPHA:158684Epidermolysis bullosa simplex with pyloric atresia124
HP:0100699HP:0100699Scarring0ITGB4 CL E G H36916158OMIM:226730Epidermolysis bullosa, junctional, with pyloric atresia124
HP:0100699HP:0100699Scarring0ITGB4 CL E G H36916158ORPHA:79402Intermediate generalized junctional epidermolysis bullosa124
HP:0100699HP:0100699Scarring0ITGB4 CL E G H36916158ORPHA:251393Localized junctional epidermolysis bullosa124
HP:0100699HP:0100699Scarring0KIAA1549 CL E G H5767022219ORPHA:791Retinitis pigmentosa
HP:0100699HP:0100699Scarring0KIZ CL E G H5585715865ORPHA:791Retinitis pigmentosa3
HP:0100699HP:0100699Scarring0KLHL7 CL E G H5597515646ORPHA:791Retinitis pigmentosa42
HP:0100699HP:0100699Scarring0KRT14 CL E G H38616416ORPHA:79396Autosomal dominant generalized epidermolysis bullosa simplex, severe formHP:0040282 - Frequent110
HP:0100699HP:0100699Scarring0KRT14 CL E G H38616416ORPHA:89838Autosomal recessive generalized epidermolysis bullosa simplex110
HP:0100699HP:0100699Scarring0KRT14 CL E G H38616416OMIM:131760Epidermolysis bullosa simplex, Dowling-Meara type110
HP:0100699HP:0100699Scarring0KRT14 CL E G H38616416ORPHA:79400Localized epidermolysis bullosa simplex110
HP:0100699HP:0100699Scarring0KRT5 CL E G H38526442ORPHA:79396Autosomal dominant generalized epidermolysis bullosa simplex, severe formHP:0040282 - Frequent173
HP:0100699HP:0100699Scarring0KRT5 CL E G H38526442OMIM:131760Epidermolysis bullosa simplex, Dowling-Meara type173
HP:0100699HP:0100699Scarring0KRT5 CL E G H38526442ORPHA:79400Localized epidermolysis bullosa simplex173
HP:0100699HP:0100699Scarring0LAMA3 CL E G H39096483OMIM:226700Epidermolysis bullosa, junctional, Herlitz type116
HP:0100699HP:0100699Scarring0LAMA3 CL E G H39096483ORPHA:79402Intermediate generalized junctional epidermolysis bullosa116
HP:0100699HP:0100699Scarring0LAMB3 CL E G H39146490OMIM:226700Epidermolysis bullosa, junctional, Herlitz type167
HP:0100699HP:0100699Scarring0LAMB3 CL E G H39146490ORPHA:79402Intermediate generalized junctional epidermolysis bullosa167
HP:0100699HP:0100699Scarring0LAMC2 CL E G H39186493OMIM:226700Epidermolysis bullosa, junctional, Herlitz type135
HP:0100699HP:0100699Scarring0LAMC2 CL E G H39186493ORPHA:79402Intermediate generalized junctional epidermolysis bullosa135
HP:0100699HP:0100699Scarring0LEMD3 CL E G H2359228887ORPHA:1306Buschke-Ollendorff syndrome68
HP:0100699HP:0100699Scarring0LEMD3 CL E G H2359228887ORPHA:166119Isolated osteopoikilosis68
HP:0100699HP:0100699Scarring0LRAT CL E G H92276685ORPHA:791Retinitis pigmentosa62
HP:0100699HP:0100699Scarring0LRP1 CL E G H40356692ORPHA:79100Atrophoderma vermiculata4
HP:0100699HP:0100699Scarring0MAK CL E G H41176816ORPHA:791Retinitis pigmentosa53
HP:0100699HP:0100699Scarring0MAP3K7 CL E G H68856859ORPHA:1826Frontometaphyseal dysplasia11
HP:0100699HP:0100699Scarring0MAP3K7 CL E G H68856859OMIM:617137Frontometaphyseal dysplasia 211
HP:0100699HP:0100699Scarring0MBTPS2 CL E G H5136015455OMIM:308800Keratosis follicularis spinulosa decalvans, X-linked22
HP:0100699HP:0100699Scarring0MERTK CL E G H104617027ORPHA:791Retinitis pigmentosa75
HP:0100699HP:0100699Scarring0MMP1 CL E G H43127155ORPHA:79408Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form6
HP:0100699HP:0100699Scarring0MMP1 CL E G H43127155OMIM:226600Epidermolysis bullosa dystrophica, autosomal recessive6
HP:0100699HP:0100699Scarring0MPV17 CL E G H43587224OMIM:256810Navajo neurohepatopathy56
HP:0100699HP:0100699Scarring0NCAPG2 CL E G H5489221904OMIM:618460Khan-Khan-Katsanis syndrome2
HP:0100699HP:0100699Scarring0NCSTN CL E G H2338517091OMIM:142690Acne inversa, familial5
HP:0100699HP:0100699Scarring0NEK2 CL E G H47517745ORPHA:791Retinitis pigmentosa5
HP:0100699HP:0100699Scarring0NGLY1 CL E G H5576817646ORPHA:404454Alacrimia-choreoathetosis-liver dysfunction syndrome32
HP:0100699HP:0100699Scarring0NLRP1 CL E G H2286114374OMIM:618803RESPIRATORY PAPILLOMATOSIS, JUVENILE RECURRENT, CONGENITAL; JRRP37
HP:0100699HP:0100699Scarring0NMNAT1 CL E G H6480217877OMIM:608553Leber congenital amaurosis 915
HP:0100699HP:0100699Scarring0NPPA CL E G H48787939OMIM:615745Atrial standstill 213
HP:0100699HP:0100699Scarring0NR2E3 CL E G H100027974ORPHA:791Retinitis pigmentosa58
HP:0100699HP:0100699Scarring0NRL CL E G H49018002ORPHA:791Retinitis pigmentosa30
HP:0100699HP:0100699Scarring0NTRK1 CL E G H49148031ORPHA:642Hereditary sensory and autonomic neuropathy type 497
HP:0100699HP:0100699Scarring0NTRK1 CL E G H49148031OMIM:256800Insensitivity to pain, congenital, with anhidrosis97
HP:0100699HP:0100699Scarring0OCRL CL E G H49528108ORPHA:534Oculocerebrorenal syndrome of Lowe88
HP:0100699HP:0100699Scarring0OFD1 CL E G H84812567ORPHA:791Retinitis pigmentosa201
HP:0100699HP:0100699Scarring0PCARE CL E G H38893934383ORPHA:791Retinitis pigmentosa
HP:0100699HP:0100699Scarring0PDE6A CL E G H51458785ORPHA:791Retinitis pigmentosa116
HP:0100699HP:0100699Scarring0PDE6B CL E G H51588786ORPHA:791Retinitis pigmentosa126
HP:0100699HP:0100699Scarring0PDE6G CL E G H51488789ORPHA:791Retinitis pigmentosa18
HP:0100699HP:0100699Scarring0PKP1 CL E G H53179023ORPHA:158668Ectodermal dysplasia-skin fragility syndromeHP:0040283 - Occasional107
HP:0100699HP:0100699Scarring0PLEC CL E G H53399069OMIM:226670Epidermolysis bullosa simplex with muscular dystrophy759
HP:0100699HP:0100699Scarring0PLEC CL E G H53399069ORPHA:158684Epidermolysis bullosa simplex with pyloric atresia759
HP:0100699HP:0100699Scarring0PLEC CL E G H53399069OMIM:226730Epidermolysis bullosa, junctional, with pyloric atresia759
HP:0100699HP:0100699Scarring0PLOD1 CL E G H53519081ORPHA:1900Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency105
HP:0100699HP:0100699Scarring0POLA1 CL E G H54229173OMIM:301220PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED; PDR2
HP:0100699HP:0100699Scarring0POMGNT1 CL E G H5562419139ORPHA:791Retinitis pigmentosa180
HP:0100699HP:0100699Scarring0PPOX CL E G H54989280ORPHA:79473Porphyria variegataHP:0040283 - Occasional41
HP:0100699HP:0100699Scarring0PRCD CL E G H76820632528ORPHA:791Retinitis pigmentosa39
HP:0100699HP:0100699Scarring0PRDM12 CL E G H5933513997OMIM:616488Neuropathy, hereditary sensory and autonomic, type VIII6
HP:0100699HP:0100699Scarring0PRDM5 CL E G H111079349ORPHA:90354Brittle cornea syndrome58
HP:0100699HP:0100699Scarring0PROM1 CL E G H88429454ORPHA:791Retinitis pigmentosa110
HP:0100699HP:0100699Scarring0PRPF3 CL E G H912917348ORPHA:791Retinitis pigmentosa28
HP:0100699HP:0100699Scarring0PRPF31 CL E G H2612115446ORPHA:791Retinitis pigmentosa70
HP:0100699HP:0100699Scarring0PRPF4 CL E G H912817349ORPHA:791Retinitis pigmentosa2
HP:0100699HP:0100699Scarring0PRPF6 CL E G H2414815860ORPHA:791Retinitis pigmentosa51
HP:0100699HP:0100699Scarring0PRPF8 CL E G H1059417340ORPHA:791Retinitis pigmentosa94
HP:0100699HP:0100699Scarring0PRPH2 CL E G H59619942ORPHA:791Retinitis pigmentosa159
HP:0100699HP:0100699Scarring0RBP3 CL E G H59499921ORPHA:791Retinitis pigmentosa108
HP:0100699HP:0100699Scarring0RDH12 CL E G H14522619977ORPHA:791Retinitis pigmentosa45
HP:0100699HP:0100699Scarring0REEP6 CL E G H9284030078ORPHA:791Retinitis pigmentosa5
HP:0100699HP:0100699Scarring0RGR CL E G H59959990ORPHA:791Retinitis pigmentosa28
HP:0100699HP:0100699Scarring0RHO CL E G H601010012ORPHA:791Retinitis pigmentosa107
HP:0100699HP:0100699Scarring0RHOA CL E G H387667OMIM:618727ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES; EDFAOB8
HP:0100699HP:0100699Scarring0RLBP1 CL E G H601710024ORPHA:791Retinitis pigmentosa47
HP:0100699HP:0100699Scarring0ROM1 CL E G H609410254ORPHA:791Retinitis pigmentosa38
HP:0100699HP:0100699Scarring0RP1 CL E G H610110263ORPHA:791Retinitis pigmentosa111
HP:0100699HP:0100699Scarring0RP1L1 CL E G H9413715946ORPHA:791Retinitis pigmentosa284
HP:0100699HP:0100699Scarring0RP2 CL E G H610210274ORPHA:791Retinitis pigmentosa45
HP:0100699HP:0100699Scarring0RP9 CL E G H610010288ORPHA:791Retinitis pigmentosa14
HP:0100699HP:0100699Scarring0RPE65 CL E G H612110294ORPHA:791Retinitis pigmentosa129
HP:0100699HP:0100699Scarring0RPGR CL E G H610310295ORPHA:791Retinitis pigmentosa200
HP:0100699HP:0100699Scarring0SAG CL E G H629510521ORPHA:791Retinitis pigmentosa32
HP:0100699HP:0100699Scarring0SCAPER CL E G H4985513081ORPHA:791Retinitis pigmentosa
HP:0100699HP:0100699Scarring0SEMA4A CL E G H6421810729ORPHA:791Retinitis pigmentosa48
HP:0100699HP:0100699Scarring0SH3BP2 CL E G H645210825OMIM:118400Cherubism177
HP:0100699HP:0100699Scarring0SLC35C1 CL E G H5534320197ORPHA:99843Leukocyte adhesion deficiency type IIHP:0040283 - Occasional71
HP:0100699HP:0100699Scarring0SLC39A13 CL E G H9125220859OMIM:612350Ehlers-Danlos syndrome, spondylodysplastic type, 324
HP:0100699HP:0100699Scarring0SLC7A14 CL E G H5770929326ORPHA:791Retinitis pigmentosa4
HP:0100699HP:0100699Scarring0SMAD3 CL E G H40886769ORPHA:284984Aneurysm-osteoarthritis syndrome260
HP:0100699HP:0100699Scarring0SMAD3 CL E G H40886769OMIM:613795LOEYS-DIETZ SYNDROME 3; LDS3260
HP:0100699HP:0100699Scarring0SNRNP200 CL E G H2302030859ORPHA:791Retinitis pigmentosa83
HP:0100699HP:0100699Scarring0SPATA7 CL E G H5581220423ORPHA:791Retinitis pigmentosa48
HP:0100699HP:0100699Scarring0TFAP2A CL E G H702011742ORPHA:1297Branchio-oculo-facial syndrome12
HP:0100699HP:0100699Scarring0TFAP2A CL E G H702011742OMIM:113620Branchiooculofacial syndrome12
HP:0100699HP:0100699Scarring0TGFBI CL E G H704511771OMIM:602082Corneal dystrophy of bowman layer, type II58
HP:0100699HP:0100699Scarring0TGFBI CL E G H704511771ORPHA:98964Lattice corneal dystrophy type I58
HP:0100699HP:0100699Scarring0TGFBR1 CL E G H704611772ORPHA:60030Loeys-Dietz syndrome239
HP:0100699HP:0100699Scarring0TGFBR2 CL E G H704811773ORPHA:60030Loeys-Dietz syndrome253
HP:0100699HP:0100699Scarring0TNFRSF11B CL E G H498211909OMIM:239000Paget disease of bone 5, juvenile-onset44
HP:0100699HP:0100699Scarring0TOPORS CL E G H1021021653ORPHA:791Retinitis pigmentosa61
HP:0100699HP:0100699Scarring0TTC8 CL E G H12301620087ORPHA:791Retinitis pigmentosa41
HP:0100699HP:0100699Scarring0TUB CL E G H727512406ORPHA:791Retinitis pigmentosa1
HP:0100699HP:0100699Scarring0TULP1 CL E G H728712423ORPHA:791Retinitis pigmentosa66
HP:0100699HP:0100699Scarring0UROD CL E G H738912591ORPHA:95159Hepatoerythropoietic porphyriaHP:0040282 - Frequent31
HP:0100699HP:0100699Scarring0UROS CL E G H739012592ORPHA:79277Congenital erythropoietic porphyriaHP:0040282 - Frequent41
HP:0100699HP:0100699Scarring0UROS CL E G H739012592OMIM:263700Porphyria, congenital erythropoietic41
HP:0100699HP:0100699Scarring0USH2A CL E G H739912601ORPHA:791Retinitis pigmentosa777
HP:0100699HP:0100699Scarring0ZNF408 CL E G H7979720041ORPHA:791Retinitis pigmentosa14
HP:0100699HP:0100699Scarring0ZNF469 CL E G H8462723216OMIM:229200Brittle cornea syndrome397
HP:0100699HP:0100699Scarring0ZNF469 CL E G H8462723216ORPHA:90354Brittle cornea syndrome397
HP:0100699HP:0100699Scarring0ZNF513 CL E G H13055726498ORPHA:791Retinitis pigmentosa27
HP:0100699HP:0007777Chorioretinal scar1 CL E G H
HP:0100699HP:0000987Atypical scarring of skin1ABCA4 CL E G H2434ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent826
HP:0100699HP:0000987Atypical scarring of skin1ADA2 CL E G H518161839OMIM:182410Sneddon syndrome22
HP:0100699HP:0000987Atypical scarring of skin1AEBP1 CL E G H165303ORPHA:536532Classical-like Ehlers-Danlos syndrome type 2
HP:0100699HP:0000987Atypical scarring of skin1AEBP1 CL E G H165303OMIM:618000Ehlers-Danlos syndrome, classic-like, 2
HP:0100699HP:0000987Atypical scarring of skin1AGBL5 CL E G H6050926147ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent2
HP:0100699HP:0000987Atypical scarring of skin1AHI1 CL E G H5480621575ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent175
HP:0100699HP:0000987Atypical scarring of skin1AHR CL E G H196348ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent2
HP:0100699HP:0000987Atypical scarring of skin1APC CL E G H324583OMIM:175100Adenomatous polyposis coli3179
HP:0100699HP:0000987Atypical scarring of skin1APC CL E G H324583ORPHA:79665Gardner syndrome3179
HP:0100699HP:0000987Atypical scarring of skin1ARHGEF18 CL E G H2337017090ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent6
HP:0100699HP:0000987Atypical scarring of skin1ARL2BP CL E G H2356817146ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent3
HP:0100699HP:0000987Atypical scarring of skin1ARL3 CL E G H403694ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent1
HP:0100699HP:0000987Atypical scarring of skin1ARL6 CL E G H8410013210ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent29
HP:0100699HP:0000987Atypical scarring of skin1ATP7A CL E G H538869ORPHA:565Menkes diseaseHP:0040282 - Frequent192
HP:0100699HP:0000987Atypical scarring of skin1ATP7A CL E G H538869ORPHA:198Occipital horn syndromeHP:0040282 - Frequent192
HP:0100699HP:0000987Atypical scarring of skin1B3GALT6 CL E G H12679217978ORPHA:536467B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome38
HP:0100699HP:0000987Atypical scarring of skin1B4GALT7 CL E G H11285930ORPHA:75496B4GALT7-related spondylodysplastic Ehlers-Danlos syndromeHP:0040282 - Frequent29
HP:0100699HP:0000987Atypical scarring of skin1B4GALT7 CL E G H11285930OMIM:130070Ehlers-Danlos syndrome, spondylodysplastic type, 129
HP:0100699HP:0000987Atypical scarring of skin1BBS1 CL E G H582966ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent114
HP:0100699HP:0000987Atypical scarring of skin1BBS2 CL E G H583967ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent97
HP:0100699HP:0000987Atypical scarring of skin1BEST1 CL E G H743912703ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent182
HP:0100699HP:0000987Atypical scarring of skin1C1R CL E G H7151246OMIM:130080Ehlers-Danlos syndrome, periodontal type, 115
HP:0100699HP:0000987Atypical scarring of skin1C1R CL E G H7151246ORPHA:75392Periodontal Ehlers-Danlos syndrome15
HP:0100699HP:0000987Atypical scarring of skin1C1S CL E G H7161247ORPHA:75392Periodontal Ehlers-Danlos syndrome7
HP:0100699HP:0000987Atypical scarring of skin1CA4 CL E G H7621375ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent23
HP:0100699HP:0000987Atypical scarring of skin1CARMIL2 CL E G H14620627089OMIM:618131IMMUNODEFICIENCY 58; IMD583
HP:0100699HP:0000987Atypical scarring of skin1CDHR1 CL E G H9221114550ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent147
HP:0100699HP:0000987Atypical scarring of skin1CERKL CL E G H37529821699ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent71
HP:0100699HP:0000987Atypical scarring of skin1CFAP418 CL E G H15765727232ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent
HP:0100699HP:0200056Macular scar1CFI CL E G H34265394OMIM:615439Macular degeneration, age-related, 13.57
HP:0100699HP:0000987Atypical scarring of skin1CHST14 CL E G H11318924464OMIM:601776Ehlers-Danlos syndrome, musculocontractural type 127
HP:0100699HP:0000987Atypical scarring of skin1CHST14 CL E G H11318924464ORPHA:2953Musculocontractural Ehlers-Danlos syndrome27
HP:0100699HP:0000987Atypical scarring of skin1CLDN1 CL E G H90762032ORPHA:59303Neonatal ichthyosis-sclerosing cholangitis syndrome11
HP:0100699HP:0000987Atypical scarring of skin1CLRN1 CL E G H740112605ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent60
HP:0100699HP:0000987Atypical scarring of skin1CNGA1 CL E G H12592148ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent44
HP:0100699HP:0000987Atypical scarring of skin1CNGB1 CL E G H12582151ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent164
HP:0100699HP:0000987Atypical scarring of skin1COL12A1 CL E G H13032188ORPHA:610Bethlem myopathy65
HP:0100699HP:0000987Atypical scarring of skin1COL12A1 CL E G H13032188OMIM:616471Bethlem myopathy 265
HP:0100699HP:0000987Atypical scarring of skin1COL17A1 CL E G H13082194OMIM:619787EPIDERMOLYSIS BULLOSA, JUNCTIONAL 4, INTERMEDIATE; JEB4129
HP:0100699HP:0000559Corneal scarring1COL17A1 CL E G H13082194ORPHA:293381Epithelial recurrent erosion dystrophyHP:0040282 - Frequent129
HP:0100699HP:0000987Atypical scarring of skin1COL17A1 CL E G H13082194ORPHA:79402Intermediate generalized junctional epidermolysis bullosa129
HP:0100699HP:0000987Atypical scarring of skin1COL17A1 CL E G H13082194ORPHA:251393Localized junctional epidermolysis bullosaHP:0040284 - Very rare129
HP:0100699HP:0000987Atypical scarring of skin1COL1A1 CL E G H12772197ORPHA:287Classical Ehlers-Danlos syndrome373
HP:0100699HP:0000987Atypical scarring of skin1COL1A1 CL E G H12772197OMIM:130060Ehlers-Danlos syndrome, arthrochalasia type, 1373
HP:0100699HP:0000987Atypical scarring of skin1COL1A2 CL E G H12782198ORPHA:230851Cardiac-valvular Ehlers-Danlos syndrome243
HP:0100699HP:0000987Atypical scarring of skin1COL1A2 CL E G H12782198OMIM:617821Ehlers-Danlos syndrome, arthrochalasia type, 2243
HP:0100699HP:0000987Atypical scarring of skin1COL1A2 CL E G H12782198OMIM:225320Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form243
HP:0100699HP:0000987Atypical scarring of skin1COL3A1 CL E G H12812201OMIM:130050Ehlers-Danlos syndrome, Vascular type749
HP:0100699HP:0000987Atypical scarring of skin1COL3A1 CL E G H12812201OMIM:618343Polymicrogyria with or without vascular-type ehlers-danlos syndrome749
HP:0100699HP:0000987Atypical scarring of skin1COL3A1 CL E G H12812201ORPHA:286Vascular Ehlers-Danlos syndrome749
HP:0100699HP:0000987Atypical scarring of skin1COL5A1 CL E G H12892209ORPHA:287Classical Ehlers-Danlos syndrome660
HP:0100699HP:0000987Atypical scarring of skin1COL5A1 CL E G H12892209OMIM:130000Ehlers-danlos syndrome, type I660
HP:0100699HP:0000987Atypical scarring of skin1COL5A1 CL E G H12892209OMIM:619329FIBROMUSCULAR DYSPLASIA, MULTIFOCAL; FMDMF660
HP:0100699HP:0000987Atypical scarring of skin1COL5A2 CL E G H12902210ORPHA:287Classical Ehlers-Danlos syndrome325
HP:0100699HP:0000987Atypical scarring of skin1COL5A2 CL E G H12902210OMIM:130010Ehlers-Danlos syndrome, classic type, 2325
HP:0100699HP:0000987Atypical scarring of skin1COL6A1 CL E G H12912211ORPHA:610Bethlem myopathy442
HP:0100699HP:0000987Atypical scarring of skin1COL6A2 CL E G H12922212ORPHA:610Bethlem myopathy478
HP:0100699HP:0000987Atypical scarring of skin1COL6A3 CL E G H12932213ORPHA:610Bethlem myopathy702
HP:0100699HP:0000987Atypical scarring of skin1COL7A1 CL E G H12942214ORPHA:231568Autosomal dominant generalized dystrophic epidermolysis bullosaHP:0040281 - Very frequent263
HP:0100699HP:0000987Atypical scarring of skin1COL7A1 CL E G H12942214ORPHA:89842Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate formHP:0040281 - Very frequent263
HP:0100699HP:0000987Atypical scarring of skin1COL7A1 CL E G H12942214ORPHA:79408Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form263
HP:0100699HP:0000987Atypical scarring of skin1COL7A1 CL E G H12942214ORPHA:89843Dystrophic epidermolysis bullosa pruriginosa263
HP:0100699HP:0000987Atypical scarring of skin1COL7A1 CL E G H12942214OMIM:131750Epidermolysis bullosa dystrophica, autosomal dominant263
HP:0100699HP:0000559Corneal scarring1COL7A1 CL E G H12942214OMIM:226600Epidermolysis bullosa dystrophica, autosomal recessive.263
HP:0100699HP:0000987Atypical scarring of skin1COL7A1 CL E G H12942214OMIM:226600Epidermolysis bullosa dystrophica, autosomal recessive263
HP:0100699HP:0000987Atypical scarring of skin1COL7A1 CL E G H12942214ORPHA:79410Localized dystrophic epidermolysis bullosa, pretibial formHP:0040282 - Frequent263
HP:0100699HP:0000987Atypical scarring of skin1COL7A1 CL E G H12942214ORPHA:79409Recessive dystrophic epidermolysis bullosa inversa263
HP:0100699HP:0000987Atypical scarring of skin1COL7A1 CL E G H12942214ORPHA:79411Self-improving dystrophic epidermolysis bullosa263
HP:0100699HP:0000987Atypical scarring of skin1COL7A1 CL E G H12942214OMIM:131705Transient bullous dermolysis of the newborn263
HP:0100699HP:0000987Atypical scarring of skin1CPOX CL E G H13712321ORPHA:79273Hereditary coproporphyriaHP:0040282 - Frequent72
HP:0100699HP:0000987Atypical scarring of skin1CRB1 CL E G H234182343ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent156
HP:0100699HP:0000987Atypical scarring of skin1CREBBP CL E G H13872348OMIM:180849Rubinstein-Taybi syndrome 1291
HP:0100699HP:0000987Atypical scarring of skin1CREBBP CL E G H13872348ORPHA:353281Rubinstein-Taybi syndrome due to 16p13.3 microdeletion291
HP:0100699HP:0000987Atypical scarring of skin1CREBBP CL E G H13872348ORPHA:353277Rubinstein-Taybi syndrome due to CREBBP mutations291
HP:0100699HP:0000559Corneal scarring1CREBBP CL E G H13872348ORPHA:353277Rubinstein-Taybi syndrome due to CREBBP mutationsHP:0040283 - Occasional291
HP:0100699HP:0000987Atypical scarring of skin1CRX CL E G H14062383ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent158
HP:0100699HP:0000987Atypical scarring of skin1CTSC CL E G H10752528ORPHA:678Papillon-Lefèvre syndrome50
HP:0100699HP:0000987Atypical scarring of skin1DHDDS CL E G H7994720603ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent47
HP:0100699HP:0000987Atypical scarring of skin1DHX38 CL E G H978517211ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent1
HP:0100699HP:0000987Atypical scarring of skin1DSE CL E G H2994021144ORPHA:2953Musculocontractural Ehlers-Danlos syndrome13
HP:0100699HP:0000559Corneal scarring1DST CL E G H6671090OMIM:614653Neuropathy, hereditary sensory and autonomic, type VI.108
HP:0100699HP:0000987Atypical scarring of skin1EBP CL E G H106823133ORPHA:35173X-linked dominant chondrodysplasia punctata51
HP:0100699HP:0000987Atypical scarring of skin1EP300 CL E G H20333373OMIM:180849Rubinstein-Taybi syndrome 1250
HP:0100699HP:0000559Corneal scarring1EP300 CL E G H20333373ORPHA:353284Rubinstein-Taybi syndrome due to EP300 haploinsufficiencyHP:0040283 - Occasional250
HP:0100699HP:0000987Atypical scarring of skin1EP300 CL E G H20333373ORPHA:353284Rubinstein-Taybi syndrome due to EP300 haploinsufficiency250
HP:0100699HP:0000987Atypical scarring of skin1EPHB4 CL E G H20503395ORPHA:90186Meige diseaseHP:0040282 - Frequent3
HP:0100699HP:0000559Corneal scarring1ERCC4 CL E G H20723436OMIM:610965XFE progeroid syndrome158
HP:0100699HP:0000987Atypical scarring of skin1ERCC6 CL E G H20743438OMIM:133540Cockayne syndrome, type B.199
HP:0100699HP:0000987Atypical scarring of skin1ERCC8 CL E G H11613439OMIM:216400Cockayne syndrome A.55
HP:0100699HP:0000987Atypical scarring of skin1EYS CL E G H34600721555ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent209
HP:0100699HP:0000987Atypical scarring of skin1FAM161A CL E G H8414025808ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent56
HP:0100699HP:0000987Atypical scarring of skin1FERMT1 CL E G H5561215889ORPHA:2908Kindler epidermolysis bullosaHP:0040283 - Occasional136
HP:0100699HP:0000987Atypical scarring of skin1FKBP14 CL E G H5503318625ORPHA:300179Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency13
HP:0100699HP:0000987Atypical scarring of skin1FLNA CL E G H23163754ORPHA:1826Frontometaphyseal dysplasia493
HP:0100699HP:0000987Atypical scarring of skin1FSCN2 CL E G H257943960ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent26
HP:0100699HP:0000987Atypical scarring of skin1GATA1 CL E G H26234170ORPHA:79277Congenital erythropoietic porphyria29
HP:0100699HP:0000987Atypical scarring of skin1GJB2 CL E G H27064284OMIM:602540Ichthyosis, hystrix-like, with deafness199
HP:0100699HP:0000559Corneal scarring1GJB2 CL E G H27064284OMIM:148210Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant.199
HP:0100699HP:0000987Atypical scarring of skin1GJB2 CL E G H27064284ORPHA:477KID syndrome199
HP:0100699HP:0000987Atypical scarring of skin1GJB6 CL E G H108044288ORPHA:477KID syndrome56
HP:0100699HP:0000987Atypical scarring of skin1GUCA1B CL E G H29794679ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent36
HP:0100699HP:0000987Atypical scarring of skin1HGSNAT CL E G H13805026527ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent86
HP:0100699HP:0200056Macular scar1HLA-A CL E G H31054931ORPHA:179Birdshot chorioretinopathyHP:0040282 - Frequent4
HP:0100699HP:0000987Atypical scarring of skin1IDH3A CL E G H34195384ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent
HP:0100699HP:0000987Atypical scarring of skin1IDH3B CL E G H34205385ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent30
HP:0100699HP:0000987Atypical scarring of skin1IFT140 CL E G H974229077ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent148
HP:0100699HP:0000987Atypical scarring of skin1IFT172 CL E G H2616030391ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent48
HP:0100699HP:0000987Atypical scarring of skin1IFT88 CL E G H810020606ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent3
HP:0100699HP:0000987Atypical scarring of skin1IMPDH1 CL E G H36146052ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent52
HP:0100699HP:0000987Atypical scarring of skin1IMPG1 CL E G H36176055ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent4
HP:0100699HP:0000987Atypical scarring of skin1IMPG2 CL E G H5093918362ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent120
HP:0100699HP:0000987Atypical scarring of skin1IPO8 CL E G H105269853ORPHA:60030Loeys-Dietz syndromeHP:0040282 - Frequent
HP:0100699HP:0000987Atypical scarring of skin1ITGB4 CL E G H36916158ORPHA:158684Epidermolysis bullosa simplex with pyloric atresia124
HP:0100699HP:0000987Atypical scarring of skin1ITGB4 CL E G H36916158OMIM:226730Epidermolysis bullosa, junctional, with pyloric atresia124
HP:0100699HP:0000987Atypical scarring of skin1ITGB4 CL E G H36916158ORPHA:79402Intermediate generalized junctional epidermolysis bullosa124
HP:0100699HP:0000987Atypical scarring of skin1ITGB4 CL E G H36916158ORPHA:251393Localized junctional epidermolysis bullosaHP:0040284 - Very rare124
HP:0100699HP:0000987Atypical scarring of skin1KIAA1549 CL E G H5767022219ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent
HP:0100699HP:0000987Atypical scarring of skin1KIZ CL E G H5585715865ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent3
HP:0100699HP:0000987Atypical scarring of skin1KLHL7 CL E G H5597515646ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent42
HP:0100699HP:0000987Atypical scarring of skin1KRT14 CL E G H38616416ORPHA:79396Autosomal dominant generalized epidermolysis bullosa simplex, severe form110
HP:0100699HP:0000987Atypical scarring of skin1KRT14 CL E G H38616416ORPHA:89838Autosomal recessive generalized epidermolysis bullosa simplex110
HP:0100699HP:0000987Atypical scarring of skin1KRT14 CL E G H38616416OMIM:131760Epidermolysis bullosa simplex, Dowling-Meara type110
HP:0100699HP:0000987Atypical scarring of skin1KRT14 CL E G H38616416ORPHA:79400Localized epidermolysis bullosa simplex110
HP:0100699HP:0000987Atypical scarring of skin1KRT5 CL E G H38526442ORPHA:79396Autosomal dominant generalized epidermolysis bullosa simplex, severe form173
HP:0100699HP:0000987Atypical scarring of skin1KRT5 CL E G H38526442OMIM:131760Epidermolysis bullosa simplex, Dowling-Meara type173
HP:0100699HP:0000987Atypical scarring of skin1KRT5 CL E G H38526442ORPHA:79400Localized epidermolysis bullosa simplex173
HP:0100699HP:0000987Atypical scarring of skin1LAMA3 CL E G H39096483OMIM:226700Epidermolysis bullosa, junctional, Herlitz type116
HP:0100699HP:0000987Atypical scarring of skin1LAMA3 CL E G H39096483ORPHA:79402Intermediate generalized junctional epidermolysis bullosa116
HP:0100699HP:0000987Atypical scarring of skin1LAMB3 CL E G H39146490OMIM:226700Epidermolysis bullosa, junctional, Herlitz type167
HP:0100699HP:0000987Atypical scarring of skin1LAMB3 CL E G H39146490ORPHA:79402Intermediate generalized junctional epidermolysis bullosa167
HP:0100699HP:0000987Atypical scarring of skin1LAMC2 CL E G H39186493OMIM:226700Epidermolysis bullosa, junctional, Herlitz type135
HP:0100699HP:0000987Atypical scarring of skin1LAMC2 CL E G H39186493ORPHA:79402Intermediate generalized junctional epidermolysis bullosa135
HP:0100699HP:0000987Atypical scarring of skin1LEMD3 CL E G H2359228887ORPHA:1306Buschke-Ollendorff syndromeHP:0040283 - Occasional68
HP:0100699HP:0000987Atypical scarring of skin1LEMD3 CL E G H2359228887ORPHA:166119Isolated osteopoikilosis68
HP:0100699HP:0000987Atypical scarring of skin1LRAT CL E G H92276685ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent62
HP:0100699HP:0000987Atypical scarring of skin1LRP1 CL E G H40356692ORPHA:79100Atrophoderma vermiculata4
HP:0100699HP:0000987Atypical scarring of skin1MAK CL E G H41176816ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent53
HP:0100699HP:0000987Atypical scarring of skin1MAP3K7 CL E G H68856859ORPHA:1826Frontometaphyseal dysplasia11
HP:0100699HP:0000987Atypical scarring of skin1MAP3K7 CL E G H68856859OMIM:617137Frontometaphyseal dysplasia 211
HP:0100699HP:0000987Atypical scarring of skin1MBTPS2 CL E G H5136015455OMIM:308800Keratosis follicularis spinulosa decalvans, X-linked22
HP:0100699HP:0000987Atypical scarring of skin1MERTK CL E G H104617027ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent75
HP:0100699HP:0000987Atypical scarring of skin1MMP1 CL E G H43127155ORPHA:79408Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form6
HP:0100699HP:0000559Corneal scarring1MMP1 CL E G H43127155OMIM:226600Epidermolysis bullosa dystrophica, autosomal recessive.6
HP:0100699HP:0000987Atypical scarring of skin1MMP1 CL E G H43127155OMIM:226600Epidermolysis bullosa dystrophica, autosomal recessive6
HP:0100699HP:0000559Corneal scarring1MPV17 CL E G H43587224OMIM:256810Navajo neurohepatopathy56
HP:0100699HP:0000559Corneal scarring1NCAPG2 CL E G H5489221904OMIM:618460Khan-Khan-Katsanis syndrome.2
HP:0100699HP:0000987Atypical scarring of skin1NCSTN CL E G H2338517091OMIM:142690Acne inversa, familial.5
HP:0100699HP:0000987Atypical scarring of skin1NEK2 CL E G H47517745ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent5
HP:0100699HP:0000559Corneal scarring1NGLY1 CL E G H5576817646ORPHA:404454Alacrimia-choreoathetosis-liver dysfunction syndromeHP:0040283 - Occasional32
HP:0100699HP:0000987Atypical scarring of skin1NLRP1 CL E G H2286114374OMIM:618803RESPIRATORY PAPILLOMATOSIS, JUVENILE RECURRENT, CONGENITAL; JRRP37
HP:0100699HP:0200056Macular scar1NMNAT1 CL E G H6480217877OMIM:608553Leber congenital amaurosis 915
HP:0100699HP:0000987Atypical scarring of skin1NR2E3 CL E G H100027974ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent58
HP:0100699HP:0000987Atypical scarring of skin1NRL CL E G H49018002ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent30
HP:0100699HP:0000987Atypical scarring of skin1NTRK1 CL E G H49148031ORPHA:642Hereditary sensory and autonomic neuropathy type 4HP:0040282 - Frequent97
HP:0100699HP:0000559Corneal scarring1NTRK1 CL E G H49148031ORPHA:642Hereditary sensory and autonomic neuropathy type 4HP:0040284 - Very rare97
HP:0100699HP:0000559Corneal scarring1NTRK1 CL E G H49148031OMIM:256800Insensitivity to pain, congenital, with anhidrosis.97
HP:0100699HP:0000987Atypical scarring of skin1OCRL CL E G H49528108ORPHA:534Oculocerebrorenal syndrome of LoweHP:0040283 - Occasional88
HP:0100699HP:0000987Atypical scarring of skin1OFD1 CL E G H84812567ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent201
HP:0100699HP:0000987Atypical scarring of skin1PCARE CL E G H38893934383ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent
HP:0100699HP:0000987Atypical scarring of skin1PDE6A CL E G H51458785ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent116
HP:0100699HP:0000987Atypical scarring of skin1PDE6B CL E G H51588786ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent126
HP:0100699HP:0000987Atypical scarring of skin1PDE6G CL E G H51488789ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent18
HP:0100699HP:0000987Atypical scarring of skin1PLEC CL E G H53399069OMIM:226670Epidermolysis bullosa simplex with muscular dystrophy759
HP:0100699HP:0000987Atypical scarring of skin1PLEC CL E G H53399069ORPHA:158684Epidermolysis bullosa simplex with pyloric atresia759
HP:0100699HP:0000987Atypical scarring of skin1PLEC CL E G H53399069OMIM:226730Epidermolysis bullosa, junctional, with pyloric atresia759
HP:0100699HP:0000987Atypical scarring of skin1PLOD1 CL E G H53519081ORPHA:1900Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiencyHP:0040281 - Very frequent105
HP:0100699HP:0000559Corneal scarring1POLA1 CL E G H54229173OMIM:301220PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED; PDR2
HP:0100699HP:0000987Atypical scarring of skin1POMGNT1 CL E G H5562419139ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent180
HP:0100699HP:0000987Atypical scarring of skin1PRCD CL E G H76820632528ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent39
HP:0100699HP:0000559Corneal scarring1PRDM12 CL E G H5933513997OMIM:616488Neuropathy, hereditary sensory and autonomic, type VIII.6
HP:0100699HP:0000559Corneal scarring1PRDM5 CL E G H111079349ORPHA:90354Brittle cornea syndromeHP:0040282 - Frequent58
HP:0100699HP:0000987Atypical scarring of skin1PROM1 CL E G H88429454ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent110
HP:0100699HP:0000987Atypical scarring of skin1PRPF3 CL E G H912917348ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent28
HP:0100699HP:0000987Atypical scarring of skin1PRPF31 CL E G H2612115446ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent70
HP:0100699HP:0000987Atypical scarring of skin1PRPF4 CL E G H912817349ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent2
HP:0100699HP:0000987Atypical scarring of skin1PRPF6 CL E G H2414815860ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent51
HP:0100699HP:0000987Atypical scarring of skin1PRPF8 CL E G H1059417340ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent94
HP:0100699HP:0000987Atypical scarring of skin1PRPH2 CL E G H59619942ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent159
HP:0100699HP:0000987Atypical scarring of skin1RBP3 CL E G H59499921ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent108
HP:0100699HP:0000987Atypical scarring of skin1RDH12 CL E G H14522619977ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent45
HP:0100699HP:0000987Atypical scarring of skin1REEP6 CL E G H9284030078ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent5
HP:0100699HP:0000987Atypical scarring of skin1RGR CL E G H59959990ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent28
HP:0100699HP:0000987Atypical scarring of skin1RHO CL E G H601010012ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent107
HP:0100699HP:0000987Atypical scarring of skin1RHOA CL E G H387667OMIM:618727ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES; EDFAOB8
HP:0100699HP:0000987Atypical scarring of skin1RLBP1 CL E G H601710024ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent47
HP:0100699HP:0000987Atypical scarring of skin1ROM1 CL E G H609410254ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent38
HP:0100699HP:0000987Atypical scarring of skin1RP1 CL E G H610110263ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent111
HP:0100699HP:0000987Atypical scarring of skin1RP1L1 CL E G H9413715946ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent284
HP:0100699HP:0000987Atypical scarring of skin1RP2 CL E G H610210274ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent45
HP:0100699HP:0000987Atypical scarring of skin1RP9 CL E G H610010288ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent14
HP:0100699HP:0000987Atypical scarring of skin1RPE65 CL E G H612110294ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent129
HP:0100699HP:0000987Atypical scarring of skin1RPGR CL E G H610310295ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent200
HP:0100699HP:0000987Atypical scarring of skin1SAG CL E G H629510521ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent32
HP:0100699HP:0000987Atypical scarring of skin1SCAPER CL E G H4985513081ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent
HP:0100699HP:0000987Atypical scarring of skin1SEMA4A CL E G H6421810729ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent48
HP:0100699HP:0200056Macular scar1SH3BP2 CL E G H645210825OMIM:118400Cherubism177
HP:0100699HP:0000987Atypical scarring of skin1SLC39A13 CL E G H9125220859OMIM:612350Ehlers-Danlos syndrome, spondylodysplastic type, 324
HP:0100699HP:0000987Atypical scarring of skin1SLC7A14 CL E G H5770929326ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent4
HP:0100699HP:0000987Atypical scarring of skin1SMAD3 CL E G H40886769ORPHA:284984Aneurysm-osteoarthritis syndromeHP:0040282 - Frequent260
HP:0100699HP:0000987Atypical scarring of skin1SMAD3 CL E G H40886769OMIM:613795LOEYS-DIETZ SYNDROME 3; LDS3260
HP:0100699HP:0000987Atypical scarring of skin1SNRNP200 CL E G H2302030859ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent83
HP:0100699HP:0000987Atypical scarring of skin1SPATA7 CL E G H5581220423ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent48
HP:0100699HP:0000987Atypical scarring of skin1TFAP2A CL E G H702011742ORPHA:1297Branchio-oculo-facial syndromeHP:0040281 - Very frequent12
HP:0100699HP:0000987Atypical scarring of skin1TFAP2A CL E G H702011742OMIM:113620Branchiooculofacial syndrome.12
HP:0100699HP:0000559Corneal scarring1TGFBI CL E G H704511771OMIM:602082Corneal dystrophy of bowman layer, type II.58
HP:0100699HP:0000559Corneal scarring1TGFBI CL E G H704511771ORPHA:98964Lattice corneal dystrophy type IHP:0040281 - Very frequent58
HP:0100699HP:0000987Atypical scarring of skin1TGFBR1 CL E G H704611772ORPHA:60030Loeys-Dietz syndromeHP:0040282 - Frequent239
HP:0100699HP:0000987Atypical scarring of skin1TGFBR2 CL E G H704811773ORPHA:60030Loeys-Dietz syndromeHP:0040282 - Frequent253
HP:0100699HP:0200056Macular scar1TNFRSF11B CL E G H498211909OMIM:239000Paget disease of bone 5, juvenile-onsetHP:0040283 - Occasional44
HP:0100699HP:0000987Atypical scarring of skin1TOPORS CL E G H1021021653ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent61
HP:0100699HP:0000987Atypical scarring of skin1TTC8 CL E G H12301620087ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent41
HP:0100699HP:0000987Atypical scarring of skin1TUB CL E G H727512406ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent1
HP:0100699HP:0000987Atypical scarring of skin1TULP1 CL E G H728712423ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent66
HP:0100699HP:0000987Atypical scarring of skin1UROD CL E G H738912591ORPHA:95159Hepatoerythropoietic porphyria31
HP:0100699HP:0000987Atypical scarring of skin1UROS CL E G H739012592ORPHA:79277Congenital erythropoietic porphyria41
HP:0100699HP:0000559Corneal scarring1UROS CL E G H739012592OMIM:263700Porphyria, congenital erythropoietic.41
HP:0100699HP:0000987Atypical scarring of skin1UROS CL E G H739012592OMIM:263700Porphyria, congenital erythropoietic.41
HP:0100699HP:0000987Atypical scarring of skin1USH2A CL E G H739912601ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent777
HP:0100699HP:0000987Atypical scarring of skin1ZNF408 CL E G H7979720041ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent14
HP:0100699HP:0000559Corneal scarring1ZNF469 CL E G H8462723216ORPHA:90354Brittle cornea syndromeHP:0040282 - Frequent397
HP:0100699HP:0000987Atypical scarring of skin1ZNF469 CL E G H8462723216OMIM:229200Brittle cornea syndrome.397
HP:0100699HP:0000987Atypical scarring of skin1ZNF513 CL E G H13055726498ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent27
HP:0100699HP:0025094Disciform macular scar2 CL E G H
HP:0100699HP:0001075Atrophic scars2ADA2 CL E G H518161839OMIM:182410Sneddon syndrome22
HP:0100699HP:0001075Atrophic scars2AEBP1 CL E G H165303ORPHA:536532Classical-like Ehlers-Danlos syndrome type 2
HP:0100699HP:0001075Atrophic scars2AEBP1 CL E G H165303OMIM:618000Ehlers-Danlos syndrome, classic-like, 2.
HP:0100699HP:0010562Keloids2APC CL E G H324583OMIM:175100Adenomatous polyposis coli.3179
HP:0100699HP:0010562Keloids2APC CL E G H324583ORPHA:79665Gardner syndromeHP:0040283 - Occasional3179
HP:0100699HP:0010562Keloids2ATP7A CL E G H538869ORPHA:198Occipital horn syndromeHP:0040282 - Frequent192
HP:0100699HP:0001075Atrophic scars2B3GALT6 CL E G H12679217978ORPHA:536467B3GALT6-related spondylodysplastic Ehlers-Danlos syndromeHP:0040282 - Frequent38
HP:0100699HP:0001075Atrophic scars2B4GALT7 CL E G H11285930ORPHA:75496B4GALT7-related spondylodysplastic Ehlers-Danlos syndromeHP:0040282 - Frequent29
HP:0100699HP:0001075Atrophic scars2B4GALT7 CL E G H11285930OMIM:130070Ehlers-Danlos syndrome, spondylodysplastic type, 129
HP:0100699HP:0001075Atrophic scars2C1R CL E G H7151246OMIM:130080Ehlers-Danlos syndrome, periodontal type, 1.15
HP:0100699HP:0001075Atrophic scars2C1R CL E G H7151246ORPHA:75392Periodontal Ehlers-Danlos syndromeHP:0040281 - Very frequent15
HP:0100699HP:0001075Atrophic scars2C1S CL E G H7161247ORPHA:75392Periodontal Ehlers-Danlos syndromeHP:0040281 - Very frequent7
HP:0100699HP:0001075Atrophic scars2CARMIL2 CL E G H14620627089OMIM:618131IMMUNODEFICIENCY 58; IMD583
HP:0100699HP:0001075Atrophic scars2CHST14 CL E G H11318924464OMIM:601776Ehlers-Danlos syndrome, musculocontractural type 127
HP:0100699HP:0001075Atrophic scars2CHST14 CL E G H11318924464ORPHA:2953Musculocontractural Ehlers-Danlos syndromeHP:0040281 - Very frequent27
HP:0100699HP:0004552Scarring alopecia of scalp2CLDN1 CL E G H90762032ORPHA:59303Neonatal ichthyosis-sclerosing cholangitis syndromeHP:0040281 - Very frequent11
HP:0100699HP:0001075Atrophic scars2COL12A1 CL E G H13032188ORPHA:610Bethlem myopathy65
HP:0100699HP:0001075Atrophic scars2COL12A1 CL E G H13032188OMIM:616471Bethlem myopathy 265
HP:0100699HP:0004552Scarring alopecia of scalp2COL17A1 CL E G H13082194OMIM:619787EPIDERMOLYSIS BULLOSA, JUNCTIONAL 4, INTERMEDIATE; JEB4129
HP:0100699HP:0004552Scarring alopecia of scalp2COL17A1 CL E G H13082194ORPHA:79402Intermediate generalized junctional epidermolysis bullosaHP:0040281 - Very frequent129
HP:0100699HP:0001075Atrophic scars2COL17A1 CL E G H13082194ORPHA:79402Intermediate generalized junctional epidermolysis bullosaHP:0040281 - Very frequent129
HP:0100699HP:0004552Scarring alopecia of scalp2COL17A1 CL E G H13082194ORPHA:251393Localized junctional epidermolysis bullosaHP:0040283 - Occasional129
HP:0100699HP:0001075Atrophic scars2COL1A1 CL E G H12772197ORPHA:287Classical Ehlers-Danlos syndromeHP:0040281 - Very frequent373
HP:0100699HP:0001075Atrophic scars2COL1A1 CL E G H12772197OMIM:130060Ehlers-Danlos syndrome, arthrochalasia type, 1.373
HP:0100699HP:0001075Atrophic scars2COL1A2 CL E G H12782198ORPHA:230851Cardiac-valvular Ehlers-Danlos syndromeHP:0040282 - Frequent243
HP:0100699HP:0001075Atrophic scars2COL1A2 CL E G H12782198OMIM:617821Ehlers-Danlos syndrome, arthrochalasia type, 2HP:0040284 - Very rare243
HP:0100699HP:0001075Atrophic scars2COL1A2 CL E G H12782198OMIM:225320Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form.243
HP:0100699HP:0001075Atrophic scars2COL3A1 CL E G H12812201OMIM:130050Ehlers-Danlos syndrome, Vascular type749
HP:0100699HP:0001075Atrophic scars2COL3A1 CL E G H12812201OMIM:618343Polymicrogyria with or without vascular-type ehlers-danlos syndrome.749
HP:0100699HP:0001075Atrophic scars2COL3A1 CL E G H12812201ORPHA:286Vascular Ehlers-Danlos syndrome749
HP:0100699HP:0001075Atrophic scars2COL5A1 CL E G H12892209ORPHA:287Classical Ehlers-Danlos syndromeHP:0040281 - Very frequent660
HP:0100699HP:0001075Atrophic scars2COL5A1 CL E G H12892209OMIM:130000Ehlers-danlos syndrome, type I660
HP:0100699HP:0001075Atrophic scars2COL5A1 CL E G H12892209OMIM:619329FIBROMUSCULAR DYSPLASIA, MULTIFOCAL; FMDMF660
HP:0100699HP:0001075Atrophic scars2COL5A2 CL E G H12902210ORPHA:287Classical Ehlers-Danlos syndromeHP:0040281 - Very frequent325
HP:0100699HP:0001075Atrophic scars2COL5A2 CL E G H12902210OMIM:130010Ehlers-Danlos syndrome, classic type, 2325
HP:0100699HP:0001075Atrophic scars2COL6A1 CL E G H12912211ORPHA:610Bethlem myopathy442
HP:0100699HP:0001075Atrophic scars2COL6A2 CL E G H12922212ORPHA:610Bethlem myopathy478
HP:0100699HP:0001075Atrophic scars2COL6A3 CL E G H12932213ORPHA:610Bethlem myopathy702
HP:0100699HP:0001075Atrophic scars2COL7A1 CL E G H12942214ORPHA:231568Autosomal dominant generalized dystrophic epidermolysis bullosaHP:0040283 - Occasional263
HP:0100699HP:0001075Atrophic scars2COL7A1 CL E G H12942214ORPHA:79408Autosomal recessive generalized dystrophic epidermolysis bullosa, severe formHP:0040281 - Very frequent263
HP:0100699HP:0001075Atrophic scars2COL7A1 CL E G H12942214ORPHA:89843Dystrophic epidermolysis bullosa pruriginosaHP:0040283 - Occasional263
HP:0100699HP:0001075Atrophic scars2COL7A1 CL E G H12942214OMIM:131750Epidermolysis bullosa dystrophica, autosomal dominant.263
HP:0100699HP:0001075Atrophic scars2COL7A1 CL E G H12942214OMIM:226600Epidermolysis bullosa dystrophica, autosomal recessive.263
HP:0100699HP:0001075Atrophic scars2COL7A1 CL E G H12942214ORPHA:79410Localized dystrophic epidermolysis bullosa, pretibial formHP:0040282 - Frequent263
HP:0100699HP:0010562Keloids2COL7A1 CL E G H12942214ORPHA:79410Localized dystrophic epidermolysis bullosa, pretibial formHP:0040282 - Frequent263
HP:0100699HP:0001075Atrophic scars2COL7A1 CL E G H12942214ORPHA:79409Recessive dystrophic epidermolysis bullosa inversaHP:0040282 - Frequent263
HP:0100699HP:0001075Atrophic scars2COL7A1 CL E G H12942214ORPHA:79411Self-improving dystrophic epidermolysis bullosaHP:0040282 - Frequent263
HP:0100699HP:0001075Atrophic scars2COL7A1 CL E G H12942214OMIM:131705Transient bullous dermolysis of the newborn.263
HP:0100699HP:0010562Keloids2CREBBP CL E G H13872348OMIM:180849Rubinstein-Taybi syndrome 1291
HP:0100699HP:0010562Keloids2CREBBP CL E G H13872348ORPHA:353281Rubinstein-Taybi syndrome due to 16p13.3 microdeletionHP:0040283 - Occasional291
HP:0100699HP:0010562Keloids2CREBBP CL E G H13872348ORPHA:353277Rubinstein-Taybi syndrome due to CREBBP mutationsHP:0040284 - Very rare291
HP:0100699HP:0001075Atrophic scars2CTSC CL E G H10752528ORPHA:678Papillon-Lefèvre syndrome50
HP:0100699HP:0001075Atrophic scars2DSE CL E G H2994021144ORPHA:2953Musculocontractural Ehlers-Danlos syndromeHP:0040281 - Very frequent13
HP:0100699HP:0004552Scarring alopecia of scalp2EBP CL E G H106823133ORPHA:35173X-linked dominant chondrodysplasia punctataHP:0040281 - Very frequent51
HP:0100699HP:0010562Keloids2EP300 CL E G H20333373OMIM:180849Rubinstein-Taybi syndrome 1250
HP:0100699HP:0010562Keloids2EP300 CL E G H20333373ORPHA:353284Rubinstein-Taybi syndrome due to EP300 haploinsufficiencyHP:0040284 - Very rare250
HP:0100699HP:0001075Atrophic scars2FKBP14 CL E G H5503318625ORPHA:300179Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiencyHP:0040282 - Frequent13
HP:0100699HP:0010562Keloids2FLNA CL E G H23163754ORPHA:1826Frontometaphyseal dysplasiaHP:0040282 - Frequent493
HP:0100699HP:0004552Scarring alopecia of scalp2GATA1 CL E G H26234170ORPHA:79277Congenital erythropoietic porphyriaHP:0040283 - Occasional29
HP:0100699HP:0004552Scarring alopecia of scalp2GJB2 CL E G H27064284OMIM:602540Ichthyosis, hystrix-like, with deafness.199
HP:0100699HP:0004552Scarring alopecia of scalp2GJB2 CL E G H27064284ORPHA:477KID syndrome199
HP:0100699HP:0004552Scarring alopecia of scalp2GJB6 CL E G H108044288ORPHA:477KID syndrome56
HP:0100699HP:0001075Atrophic scars2ITGB4 CL E G H36916158ORPHA:158684Epidermolysis bullosa simplex with pyloric atresiaHP:0040283 - Occasional124
HP:0100699HP:0004552Scarring alopecia of scalp2ITGB4 CL E G H36916158ORPHA:158684Epidermolysis bullosa simplex with pyloric atresiaHP:0040283 - Occasional124
HP:0100699HP:0001075Atrophic scars2ITGB4 CL E G H36916158OMIM:226730Epidermolysis bullosa, junctional, with pyloric atresia.124
HP:0100699HP:0004552Scarring alopecia of scalp2ITGB4 CL E G H36916158ORPHA:79402Intermediate generalized junctional epidermolysis bullosaHP:0040281 - Very frequent124
HP:0100699HP:0001075Atrophic scars2ITGB4 CL E G H36916158ORPHA:79402Intermediate generalized junctional epidermolysis bullosaHP:0040281 - Very frequent124
HP:0100699HP:0004552Scarring alopecia of scalp2ITGB4 CL E G H36916158ORPHA:251393Localized junctional epidermolysis bullosaHP:0040283 - Occasional124
HP:0100699HP:0001075Atrophic scars2KRT14 CL E G H38616416ORPHA:79396Autosomal dominant generalized epidermolysis bullosa simplex, severe formHP:0040282 - Frequent110
HP:0100699HP:0001075Atrophic scars2KRT14 CL E G H38616416ORPHA:89838Autosomal recessive generalized epidermolysis bullosa simplexHP:0040283 - Occasional110
HP:0100699HP:0001075Atrophic scars2KRT14 CL E G H38616416OMIM:131760Epidermolysis bullosa simplex, Dowling-Meara typeHP:0040283 - Occasional110
HP:0100699HP:0001075Atrophic scars2KRT14 CL E G H38616416ORPHA:79400Localized epidermolysis bullosa simplexHP:0040284 - Very rare110
HP:0100699HP:0001075Atrophic scars2KRT5 CL E G H38526442ORPHA:79396Autosomal dominant generalized epidermolysis bullosa simplex, severe formHP:0040282 - Frequent173
HP:0100699HP:0001075Atrophic scars2KRT5 CL E G H38526442OMIM:131760Epidermolysis bullosa simplex, Dowling-Meara typeHP:0040283 - Occasional173
HP:0100699HP:0001075Atrophic scars2KRT5 CL E G H38526442ORPHA:79400Localized epidermolysis bullosa simplexHP:0040284 - Very rare173
HP:0100699HP:0001075Atrophic scars2LAMA3 CL E G H39096483OMIM:226700Epidermolysis bullosa, junctional, Herlitz type.116
HP:0100699HP:0004552Scarring alopecia of scalp2LAMA3 CL E G H39096483ORPHA:79402Intermediate generalized junctional epidermolysis bullosaHP:0040281 - Very frequent116
HP:0100699HP:0001075Atrophic scars2LAMA3 CL E G H39096483ORPHA:79402Intermediate generalized junctional epidermolysis bullosaHP:0040281 - Very frequent116
HP:0100699HP:0001075Atrophic scars2LAMB3 CL E G H39146490OMIM:226700Epidermolysis bullosa, junctional, Herlitz type.167
HP:0100699HP:0004552Scarring alopecia of scalp2LAMB3 CL E G H39146490ORPHA:79402Intermediate generalized junctional epidermolysis bullosaHP:0040281 - Very frequent167
HP:0100699HP:0001075Atrophic scars2LAMB3 CL E G H39146490ORPHA:79402Intermediate generalized junctional epidermolysis bullosaHP:0040281 - Very frequent167
HP:0100699HP:0001075Atrophic scars2LAMC2 CL E G H39186493OMIM:226700Epidermolysis bullosa, junctional, Herlitz type.135
HP:0100699HP:0004552Scarring alopecia of scalp2LAMC2 CL E G H39186493ORPHA:79402Intermediate generalized junctional epidermolysis bullosaHP:0040281 - Very frequent135
HP:0100699HP:0001075Atrophic scars2LAMC2 CL E G H39186493ORPHA:79402Intermediate generalized junctional epidermolysis bullosaHP:0040281 - Very frequent135
HP:0100699HP:0010562Keloids2LEMD3 CL E G H2359228887ORPHA:166119Isolated osteopoikilosis68
HP:0100699HP:0001075Atrophic scars2LRP1 CL E G H40356692ORPHA:79100Atrophoderma vermiculataHP:0040281 - Very frequent4
HP:0100699HP:0010562Keloids2MAP3K7 CL E G H68856859ORPHA:1826Frontometaphyseal dysplasiaHP:0040282 - Frequent11
HP:0100699HP:0010562Keloids2MAP3K7 CL E G H68856859OMIM:617137Frontometaphyseal dysplasia 211
HP:0100699HP:0004552Scarring alopecia of scalp2MBTPS2 CL E G H5136015455OMIM:308800Keratosis follicularis spinulosa decalvans, X-linked.22
HP:0100699HP:0001075Atrophic scars2MMP1 CL E G H43127155ORPHA:79408Autosomal recessive generalized dystrophic epidermolysis bullosa, severe formHP:0040281 - Very frequent6
HP:0100699HP:0001075Atrophic scars2MMP1 CL E G H43127155OMIM:226600Epidermolysis bullosa dystrophica, autosomal recessive.6
HP:0100699HP:0100837Atrophodermia vermiculata2NLRP1 CL E G H2286114374OMIM:618803RESPIRATORY PAPILLOMATOSIS, JUVENILE RECURRENT, CONGENITAL; JRRP37
HP:0100699HP:0004552Scarring alopecia of scalp2PLEC CL E G H53399069OMIM:226670Epidermolysis bullosa simplex with muscular dystrophy.759
HP:0100699HP:0001075Atrophic scars2PLEC CL E G H53399069ORPHA:158684Epidermolysis bullosa simplex with pyloric atresiaHP:0040283 - Occasional759
HP:0100699HP:0004552Scarring alopecia of scalp2PLEC CL E G H53399069ORPHA:158684Epidermolysis bullosa simplex with pyloric atresiaHP:0040283 - Occasional759
HP:0100699HP:0001075Atrophic scars2PLEC CL E G H53399069OMIM:226730Epidermolysis bullosa, junctional, with pyloric atresia.759
HP:0100699HP:0001075Atrophic scars2PLOD1 CL E G H53519081ORPHA:1900Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiencyHP:0040282 - Frequent105
HP:0100699HP:0004552Scarring alopecia of scalp2RHOA CL E G H387667OMIM:618727ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES; EDFAOB8
HP:0100699HP:0001075Atrophic scars2SLC39A13 CL E G H9125220859OMIM:612350Ehlers-Danlos syndrome, spondylodysplastic type, 324
HP:0100699HP:0001075Atrophic scars2SMAD3 CL E G H40886769OMIM:613795LOEYS-DIETZ SYNDROME 3; LDS3260
HP:0100699HP:0004552Scarring alopecia of scalp2UROD CL E G H738912591ORPHA:95159Hepatoerythropoietic porphyriaHP:0040283 - Occasional31
HP:0100699HP:0004552Scarring alopecia of scalp2UROS CL E G H739012592ORPHA:79277Congenital erythropoietic porphyriaHP:0040283 - Occasional41
HP:0100699HP:0031158Widened atrophic scar3AEBP1 CL E G H165303ORPHA:536532Classical-like Ehlers-Danlos syndrome type 2HP:0040281 - Very frequent
HP:0100699HP:0001073Cigarette-paper scars3COL12A1 CL E G H13032188ORPHA:610Bethlem myopathyHP:0040283 - Occasional65
HP:0100699HP:0001073Cigarette-paper scars3COL1A1 CL E G H12772197ORPHA:287Classical Ehlers-Danlos syndromeHP:0040281 - Very frequent373
HP:0100699HP:0001073Cigarette-paper scars3COL3A1 CL E G H12812201OMIM:130050Ehlers-Danlos syndrome, Vascular type.749
HP:0100699HP:0001073Cigarette-paper scars3COL3A1 CL E G H12812201ORPHA:286Vascular Ehlers-Danlos syndromeHP:0040283 - Occasional749
HP:0100699HP:0001073Cigarette-paper scars3COL5A1 CL E G H12892209ORPHA:287Classical Ehlers-Danlos syndromeHP:0040281 - Very frequent660
HP:0100699HP:0001073Cigarette-paper scars3COL5A1 CL E G H12892209OMIM:130000Ehlers-danlos syndrome, type I660
HP:0100699HP:0001073Cigarette-paper scars3COL5A2 CL E G H12902210ORPHA:287Classical Ehlers-Danlos syndromeHP:0040281 - Very frequent325
HP:0100699HP:0001073Cigarette-paper scars3COL5A2 CL E G H12902210OMIM:130010Ehlers-Danlos syndrome, classic type, 2325
HP:0100699HP:0001073Cigarette-paper scars3COL6A1 CL E G H12912211ORPHA:610Bethlem myopathyHP:0040283 - Occasional442
HP:0100699HP:0001073Cigarette-paper scars3COL6A2 CL E G H12922212ORPHA:610Bethlem myopathyHP:0040283 - Occasional478
HP:0100699HP:0001073Cigarette-paper scars3COL6A3 CL E G H12932213ORPHA:610Bethlem myopathyHP:0040283 - Occasional702
HP:0100699HP:0001073Cigarette-paper scars3CTSC CL E G H10752528ORPHA:678Papillon-Lefèvre syndromeHP:0040283 - Occasional50
HP:0100699HP:0031158Widened atrophic scar3PLOD1 CL E G H53519081ORPHA:1900Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiencyHP:0040283 - Occasional105
HP:0100699HP:0001073Cigarette-paper scars3SLC39A13 CL E G H9125220859OMIM:612350Ehlers-Danlos syndrome, spondylodysplastic type, 324


Genes (174) :ABCA4 ADA2 ADAMTS2 ADAMTSL2 AEBP1 AGBL5 AHI1 AHR APC ARHGEF18 ARL2BP ARL3 ARL6 ATP7A B3GALT6 B4GALT7 BBS1 BBS2 BEST1 BTNL2 C1R C1S CA4 CARMIL2 CDHR1 CERKL CFAP418 CFI CHST14 CLDN1 CLRN1 CNGA1 CNGB1 COL12A1 COL17A1 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2 COL6A1 COL6A2 COL6A3 COL7A1 CPOX CRB1 CREBBP CRX CTSC CYP26C1 DHDDS DHX38 DSE DST EBP ECM1 EP300 EPHB4 ERCC1 ERCC4 ERCC6 ERCC8 EYS FAM161A FERMT1 FKBP14 FLNA FSCN2 GATA1 GJB2 GJB6 GUCA1B HGSNAT HLA-A HLA-DRB1 IDH3A IDH3B IFT140 IFT172 IFT88 IKBKG IMPDH1 IMPG1 IMPG2 IPO8 ITGB4 KIAA1549 KIZ KLHL7 KRT14 KRT5 LAMA3 LAMB3 LAMC2 LEMD3 LRAT LRP1 MAK MAP3K7 MBTPS2 MERTK MMP1 MPV17 NCAPG2 NCSTN NEK2 NGLY1 NLRP1 NMNAT1 NPPA NR2E3 NRL NTRK1 OCRL OFD1 PCARE PDE6A PDE6B PDE6G PKP1 PLEC PLOD1 POLA1 POMGNT1 PPOX PRCD PRDM12 PRDM5 PROM1 PRPF3 PRPF31 PRPF4 PRPF6 PRPF8 PRPH2 RBP3 RDH12 REEP6 RGR RHO RHOA RLBP1 ROM1 RP1 RP1L1 RP2 RP9 RPE65 RPGR SAG SCAPER SEMA4A SH3BP2 SLC35C1 SLC39A13 SLC7A14 SMAD3 SNRNP200 SPATA7 TFAP2A TGFBI TGFBR1 TGFBR2 TNFRSF11B TOPORS TTC8 TUB TULP1 UROD UROS USH2A ZNF408 ZNF469 ZNF513

Diseases (118) :ORPHA:791 OMIM:182410 ORPHA:1901 ORPHA:536532 OMIM:618000 OMIM:175100 ORPHA:79665 ORPHA:565 ORPHA:198 ORPHA:536467 ORPHA:75496 OMIM:130070 ORPHA:797 OMIM:130080 ORPHA:75392 OMIM:618131 OMIM:615439 OMIM:601776 ORPHA:2953 ORPHA:59303 ORPHA:610 OMIM:616471 OMIM:619787 ORPHA:293381 ORPHA:79402 ORPHA:251393 ORPHA:1899 ORPHA:287 OMIM:130060 ORPHA:230851 OMIM:617821 OMIM:225320 OMIM:130050 OMIM:618343 ORPHA:286 OMIM:130000 OMIM:619329 OMIM:130010 ORPHA:231568 ORPHA:89842 ORPHA:79408 ORPHA:89843 OMIM:131750 OMIM:226600 ORPHA:79410 ORPHA:79409 ORPHA:79411 OMIM:131705 ORPHA:79273 OMIM:180849 ORPHA:353281 ORPHA:353277 ORPHA:678 ORPHA:398189 OMIM:614653 ORPHA:35173 ORPHA:530 OMIM:247100 ORPHA:353284 ORPHA:90186 ORPHA:90322 ORPHA:90321 OMIM:610965 OMIM:133540 OMIM:216400 ORPHA:2908 ORPHA:300179 ORPHA:1826 ORPHA:79277 OMIM:602540 OMIM:148210 ORPHA:477 ORPHA:179 OMIM:308300 ORPHA:60030 ORPHA:158684 OMIM:226730 ORPHA:79396 ORPHA:89838 OMIM:131760 ORPHA:79400 OMIM:226700 ORPHA:1306 ORPHA:166119 ORPHA:79100 OMIM:617137 OMIM:308800 OMIM:256810 OMIM:618460 OMIM:142690 ORPHA:404454 OMIM:618803 OMIM:608553 OMIM:615745 ORPHA:642 OMIM:256800 ORPHA:534 ORPHA:158668 OMIM:226670 ORPHA:1900 OMIM:301220 ORPHA:79473 OMIM:616488 ORPHA:90354 OMIM:618727 OMIM:118400 ORPHA:99843 OMIM:612350 ORPHA:284984 OMIM:613795 ORPHA:1297 OMIM:113620 OMIM:602082 ORPHA:98964 OMIM:239000 ORPHA:95159 OMIM:263700 OMIM:229200
 

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