Human Phenotype Ontology 
Grandparent Node:
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Abnormality of connective tissue (HP:0003549)help
Parent Node:
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Localized skin lesion (HP:0011355)help
Parent Node:
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Scarring (HP:0100699)help
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Atypical scarring of skin (HP:0000987)help
Term ID: 987
Name: Atypical scarring of skin
Synonym: Atypical scarring; Atypical scarring of skin
Definition: Atypically scarred skin .
Comments:
Reference: HP:0000987
Genes and Diseases:
 
       Child Nodes:
........expandAtrophic scars (HP:0001075) help
................... HP:0001073 Cigarette-paper scars
................... HP:0031158 Widened atrophic scar
........expandScarring alopecia of scalp (HP:0004552) help
........expandKeloids (HP:0010562) help
........expandAtrophodermia vermiculata (HP:0100837) help

 Sister Nodes: 
..expandChorioretinal scar (HP:0007777) help
..expandCorneal scarring (HP:0000559) help
..expandMacular scar (HP:0200056) 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:0000987HP:0000987Atypical scarring of skin0ABCA4 CL E G H2434ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent826
HP:0000987HP:0000987Atypical scarring of skin0ADA2 CL E G H518161839OMIM:182410Sneddon syndrome22
HP:0000987HP:0000987Atypical scarring of skin0AEBP1 CL E G H165303ORPHA:536532Classical-like Ehlers-Danlos syndrome type 2
HP:0000987HP:0000987Atypical scarring of skin0AEBP1 CL E G H165303OMIM:618000Ehlers-Danlos syndrome, classic-like, 2
HP:0000987HP:0000987Atypical scarring of skin0AGBL5 CL E G H6050926147ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent2
HP:0000987HP:0000987Atypical scarring of skin0AHI1 CL E G H5480621575ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent175
HP:0000987HP:0000987Atypical scarring of skin0AHR CL E G H196348ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent2
HP:0000987HP:0000987Atypical scarring of skin0APC CL E G H324583OMIM:175100Adenomatous polyposis coli3179
HP:0000987HP:0000987Atypical scarring of skin0APC CL E G H324583ORPHA:79665Gardner syndrome3179
HP:0000987HP:0000987Atypical scarring of skin0ARHGEF18 CL E G H2337017090ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent6
HP:0000987HP:0000987Atypical scarring of skin0ARL2BP CL E G H2356817146ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent3
HP:0000987HP:0000987Atypical scarring of skin0ARL3 CL E G H403694ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent1
HP:0000987HP:0000987Atypical scarring of skin0ARL6 CL E G H8410013210ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent29
HP:0000987HP:0000987Atypical scarring of skin0ATP7A CL E G H538869ORPHA:565Menkes diseaseHP:0040282 - Frequent192
HP:0000987HP:0000987Atypical scarring of skin0ATP7A CL E G H538869ORPHA:198Occipital horn syndromeHP:0040282 - Frequent192
HP:0000987HP:0000987Atypical scarring of skin0B3GALT6 CL E G H12679217978ORPHA:536467B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome38
HP:0000987HP:0000987Atypical scarring of skin0B4GALT7 CL E G H11285930ORPHA:75496B4GALT7-related spondylodysplastic Ehlers-Danlos syndromeHP:0040282 - Frequent29
HP:0000987HP:0000987Atypical scarring of skin0B4GALT7 CL E G H11285930OMIM:130070Ehlers-Danlos syndrome, spondylodysplastic type, 129
HP:0000987HP:0000987Atypical scarring of skin0BBS1 CL E G H582966ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent114
HP:0000987HP:0000987Atypical scarring of skin0BBS2 CL E G H583967ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent97
HP:0000987HP:0000987Atypical scarring of skin0BEST1 CL E G H743912703ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent182
HP:0000987HP:0000987Atypical scarring of skin0C1R CL E G H7151246OMIM:130080Ehlers-Danlos syndrome, periodontal type, 115
HP:0000987HP:0000987Atypical scarring of skin0C1R CL E G H7151246ORPHA:75392Periodontal Ehlers-Danlos syndrome15
HP:0000987HP:0000987Atypical scarring of skin0C1S CL E G H7161247ORPHA:75392Periodontal Ehlers-Danlos syndrome7
HP:0000987HP:0000987Atypical scarring of skin0CA4 CL E G H7621375ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent23
HP:0000987HP:0000987Atypical scarring of skin0CARMIL2 CL E G H14620627089OMIM:618131IMMUNODEFICIENCY 58; IMD583
HP:0000987HP:0000987Atypical scarring of skin0CDHR1 CL E G H9221114550ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent147
HP:0000987HP:0000987Atypical scarring of skin0CERKL CL E G H37529821699ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent71
HP:0000987HP:0000987Atypical scarring of skin0CFAP418 CL E G H15765727232ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent
HP:0000987HP:0000987Atypical scarring of skin0CHST14 CL E G H11318924464OMIM:601776Ehlers-Danlos syndrome, musculocontractural type 127
HP:0000987HP:0000987Atypical scarring of skin0CHST14 CL E G H11318924464ORPHA:2953Musculocontractural Ehlers-Danlos syndrome27
HP:0000987HP:0000987Atypical scarring of skin0CLDN1 CL E G H90762032ORPHA:59303Neonatal ichthyosis-sclerosing cholangitis syndrome11
HP:0000987HP:0000987Atypical scarring of skin0CLRN1 CL E G H740112605ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent60
HP:0000987HP:0000987Atypical scarring of skin0CNGA1 CL E G H12592148ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent44
HP:0000987HP:0000987Atypical scarring of skin0CNGB1 CL E G H12582151ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent164
HP:0000987HP:0000987Atypical scarring of skin0COL12A1 CL E G H13032188ORPHA:610Bethlem myopathy65
HP:0000987HP:0000987Atypical scarring of skin0COL12A1 CL E G H13032188OMIM:616471Bethlem myopathy 265
HP:0000987HP:0000987Atypical scarring of skin0COL17A1 CL E G H13082194OMIM:619787EPIDERMOLYSIS BULLOSA, JUNCTIONAL 4, INTERMEDIATE; JEB4129
HP:0000987HP:0000987Atypical scarring of skin0COL17A1 CL E G H13082194ORPHA:79402Intermediate generalized junctional epidermolysis bullosa129
HP:0000987HP:0000987Atypical scarring of skin0COL17A1 CL E G H13082194ORPHA:251393Localized junctional epidermolysis bullosaHP:0040284 - Very rare129
HP:0000987HP:0000987Atypical scarring of skin0COL1A1 CL E G H12772197ORPHA:287Classical Ehlers-Danlos syndrome373
HP:0000987HP:0000987Atypical scarring of skin0COL1A1 CL E G H12772197OMIM:130060Ehlers-Danlos syndrome, arthrochalasia type, 1373
HP:0000987HP:0000987Atypical scarring of skin0COL1A2 CL E G H12782198ORPHA:230851Cardiac-valvular Ehlers-Danlos syndrome243
HP:0000987HP:0000987Atypical scarring of skin0COL1A2 CL E G H12782198OMIM:617821Ehlers-Danlos syndrome, arthrochalasia type, 2243
HP:0000987HP:0000987Atypical scarring of skin0COL1A2 CL E G H12782198OMIM:225320Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form243
HP:0000987HP:0000987Atypical scarring of skin0COL3A1 CL E G H12812201OMIM:130050Ehlers-Danlos syndrome, Vascular type749
HP:0000987HP:0000987Atypical scarring of skin0COL3A1 CL E G H12812201OMIM:618343Polymicrogyria with or without vascular-type ehlers-danlos syndrome749
HP:0000987HP:0000987Atypical scarring of skin0COL3A1 CL E G H12812201ORPHA:286Vascular Ehlers-Danlos syndrome749
HP:0000987HP:0000987Atypical scarring of skin0COL5A1 CL E G H12892209ORPHA:287Classical Ehlers-Danlos syndrome660
HP:0000987HP:0000987Atypical scarring of skin0COL5A1 CL E G H12892209OMIM:130000Ehlers-danlos syndrome, type I660
HP:0000987HP:0000987Atypical scarring of skin0COL5A1 CL E G H12892209OMIM:619329FIBROMUSCULAR DYSPLASIA, MULTIFOCAL; FMDMF660
HP:0000987HP:0000987Atypical scarring of skin0COL5A2 CL E G H12902210ORPHA:287Classical Ehlers-Danlos syndrome325
HP:0000987HP:0000987Atypical scarring of skin0COL5A2 CL E G H12902210OMIM:130010Ehlers-Danlos syndrome, classic type, 2325
HP:0000987HP:0000987Atypical scarring of skin0COL6A1 CL E G H12912211ORPHA:610Bethlem myopathy442
HP:0000987HP:0000987Atypical scarring of skin0COL6A2 CL E G H12922212ORPHA:610Bethlem myopathy478
HP:0000987HP:0000987Atypical scarring of skin0COL6A3 CL E G H12932213ORPHA:610Bethlem myopathy702
HP:0000987HP:0000987Atypical scarring of skin0COL7A1 CL E G H12942214ORPHA:231568Autosomal dominant generalized dystrophic epidermolysis bullosaHP:0040281 - Very frequent263
HP:0000987HP:0000987Atypical scarring of skin0COL7A1 CL E G H12942214ORPHA:89842Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate formHP:0040281 - Very frequent263
HP:0000987HP:0000987Atypical scarring of skin0COL7A1 CL E G H12942214ORPHA:79408Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form263
HP:0000987HP:0000987Atypical scarring of skin0COL7A1 CL E G H12942214ORPHA:89843Dystrophic epidermolysis bullosa pruriginosa263
HP:0000987HP:0000987Atypical scarring of skin0COL7A1 CL E G H12942214OMIM:131750Epidermolysis bullosa dystrophica, autosomal dominant263
HP:0000987HP:0000987Atypical scarring of skin0COL7A1 CL E G H12942214OMIM:226600Epidermolysis bullosa dystrophica, autosomal recessive263
HP:0000987HP:0000987Atypical scarring of skin0COL7A1 CL E G H12942214ORPHA:79410Localized dystrophic epidermolysis bullosa, pretibial formHP:0040282 - Frequent263
HP:0000987HP:0000987Atypical scarring of skin0COL7A1 CL E G H12942214ORPHA:79409Recessive dystrophic epidermolysis bullosa inversa263
HP:0000987HP:0000987Atypical scarring of skin0COL7A1 CL E G H12942214ORPHA:79411Self-improving dystrophic epidermolysis bullosa263
HP:0000987HP:0000987Atypical scarring of skin0COL7A1 CL E G H12942214OMIM:131705Transient bullous dermolysis of the newborn263
HP:0000987HP:0000987Atypical scarring of skin0CPOX CL E G H13712321ORPHA:79273Hereditary coproporphyriaHP:0040282 - Frequent72
HP:0000987HP:0000987Atypical scarring of skin0CRB1 CL E G H234182343ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent156
HP:0000987HP:0000987Atypical scarring of skin0CREBBP CL E G H13872348OMIM:180849Rubinstein-Taybi syndrome 1291
HP:0000987HP:0000987Atypical scarring of skin0CREBBP CL E G H13872348ORPHA:353281Rubinstein-Taybi syndrome due to 16p13.3 microdeletion291
HP:0000987HP:0000987Atypical scarring of skin0CREBBP CL E G H13872348ORPHA:353277Rubinstein-Taybi syndrome due to CREBBP mutations291
HP:0000987HP:0000987Atypical scarring of skin0CRX CL E G H14062383ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent158
HP:0000987HP:0000987Atypical scarring of skin0CTSC CL E G H10752528ORPHA:678Papillon-Lefèvre syndrome50
HP:0000987HP:0000987Atypical scarring of skin0DHDDS CL E G H7994720603ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent47
HP:0000987HP:0000987Atypical scarring of skin0DHX38 CL E G H978517211ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent1
HP:0000987HP:0000987Atypical scarring of skin0DSE CL E G H2994021144ORPHA:2953Musculocontractural Ehlers-Danlos syndrome13
HP:0000987HP:0000987Atypical scarring of skin0EBP CL E G H106823133ORPHA:35173X-linked dominant chondrodysplasia punctata51
HP:0000987HP:0000987Atypical scarring of skin0EP300 CL E G H20333373OMIM:180849Rubinstein-Taybi syndrome 1250
HP:0000987HP:0000987Atypical scarring of skin0EP300 CL E G H20333373ORPHA:353284Rubinstein-Taybi syndrome due to EP300 haploinsufficiency250
HP:0000987HP:0000987Atypical scarring of skin0EPHB4 CL E G H20503395ORPHA:90186Meige diseaseHP:0040282 - Frequent3
HP:0000987HP:0000987Atypical scarring of skin0ERCC6 CL E G H20743438OMIM:133540Cockayne syndrome, type B.199
HP:0000987HP:0000987Atypical scarring of skin0ERCC8 CL E G H11613439OMIM:216400Cockayne syndrome A.55
HP:0000987HP:0000987Atypical scarring of skin0EYS CL E G H34600721555ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent209
HP:0000987HP:0000987Atypical scarring of skin0FAM161A CL E G H8414025808ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent56
HP:0000987HP:0000987Atypical scarring of skin0FERMT1 CL E G H5561215889ORPHA:2908Kindler epidermolysis bullosaHP:0040283 - Occasional136
HP:0000987HP:0000987Atypical scarring of skin0FKBP14 CL E G H5503318625ORPHA:300179Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency13
HP:0000987HP:0000987Atypical scarring of skin0FLNA CL E G H23163754ORPHA:1826Frontometaphyseal dysplasia493
HP:0000987HP:0000987Atypical scarring of skin0FSCN2 CL E G H257943960ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent26
HP:0000987HP:0000987Atypical scarring of skin0GATA1 CL E G H26234170ORPHA:79277Congenital erythropoietic porphyria29
HP:0000987HP:0000987Atypical scarring of skin0GJB2 CL E G H27064284OMIM:602540Ichthyosis, hystrix-like, with deafness199
HP:0000987HP:0000987Atypical scarring of skin0GJB2 CL E G H27064284ORPHA:477KID syndrome199
HP:0000987HP:0000987Atypical scarring of skin0GJB6 CL E G H108044288ORPHA:477KID syndrome56
HP:0000987HP:0000987Atypical scarring of skin0GUCA1B CL E G H29794679ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent36
HP:0000987HP:0000987Atypical scarring of skin0HGSNAT CL E G H13805026527ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent86
HP:0000987HP:0000987Atypical scarring of skin0IDH3A CL E G H34195384ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent
HP:0000987HP:0000987Atypical scarring of skin0IDH3B CL E G H34205385ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent30
HP:0000987HP:0000987Atypical scarring of skin0IFT140 CL E G H974229077ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent148
HP:0000987HP:0000987Atypical scarring of skin0IFT172 CL E G H2616030391ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent48
HP:0000987HP:0000987Atypical scarring of skin0IFT88 CL E G H810020606ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent3
HP:0000987HP:0000987Atypical scarring of skin0IMPDH1 CL E G H36146052ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent52
HP:0000987HP:0000987Atypical scarring of skin0IMPG1 CL E G H36176055ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent4
HP:0000987HP:0000987Atypical scarring of skin0IMPG2 CL E G H5093918362ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent120
HP:0000987HP:0000987Atypical scarring of skin0IPO8 CL E G H105269853ORPHA:60030Loeys-Dietz syndromeHP:0040282 - Frequent
HP:0000987HP:0000987Atypical scarring of skin0ITGB4 CL E G H36916158ORPHA:158684Epidermolysis bullosa simplex with pyloric atresia124
HP:0000987HP:0000987Atypical scarring of skin0ITGB4 CL E G H36916158OMIM:226730Epidermolysis bullosa, junctional, with pyloric atresia124
HP:0000987HP:0000987Atypical scarring of skin0ITGB4 CL E G H36916158ORPHA:79402Intermediate generalized junctional epidermolysis bullosa124
HP:0000987HP:0000987Atypical scarring of skin0ITGB4 CL E G H36916158ORPHA:251393Localized junctional epidermolysis bullosaHP:0040284 - Very rare124
HP:0000987HP:0000987Atypical scarring of skin0KIAA1549 CL E G H5767022219ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent
HP:0000987HP:0000987Atypical scarring of skin0KIZ CL E G H5585715865ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent3
HP:0000987HP:0000987Atypical scarring of skin0KLHL7 CL E G H5597515646ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent42
HP:0000987HP:0000987Atypical scarring of skin0KRT14 CL E G H38616416ORPHA:79396Autosomal dominant generalized epidermolysis bullosa simplex, severe form110
HP:0000987HP:0000987Atypical scarring of skin0KRT14 CL E G H38616416ORPHA:89838Autosomal recessive generalized epidermolysis bullosa simplex110
HP:0000987HP:0000987Atypical scarring of skin0KRT14 CL E G H38616416OMIM:131760Epidermolysis bullosa simplex, Dowling-Meara type110
HP:0000987HP:0000987Atypical scarring of skin0KRT14 CL E G H38616416ORPHA:79400Localized epidermolysis bullosa simplex110
HP:0000987HP:0000987Atypical scarring of skin0KRT5 CL E G H38526442ORPHA:79396Autosomal dominant generalized epidermolysis bullosa simplex, severe form173
HP:0000987HP:0000987Atypical scarring of skin0KRT5 CL E G H38526442OMIM:131760Epidermolysis bullosa simplex, Dowling-Meara type173
HP:0000987HP:0000987Atypical scarring of skin0KRT5 CL E G H38526442ORPHA:79400Localized epidermolysis bullosa simplex173
HP:0000987HP:0000987Atypical scarring of skin0LAMA3 CL E G H39096483OMIM:226700Epidermolysis bullosa, junctional, Herlitz type116
HP:0000987HP:0000987Atypical scarring of skin0LAMA3 CL E G H39096483ORPHA:79402Intermediate generalized junctional epidermolysis bullosa116
HP:0000987HP:0000987Atypical scarring of skin0LAMB3 CL E G H39146490OMIM:226700Epidermolysis bullosa, junctional, Herlitz type167
HP:0000987HP:0000987Atypical scarring of skin0LAMB3 CL E G H39146490ORPHA:79402Intermediate generalized junctional epidermolysis bullosa167
HP:0000987HP:0000987Atypical scarring of skin0LAMC2 CL E G H39186493OMIM:226700Epidermolysis bullosa, junctional, Herlitz type135
HP:0000987HP:0000987Atypical scarring of skin0LAMC2 CL E G H39186493ORPHA:79402Intermediate generalized junctional epidermolysis bullosa135
HP:0000987HP:0000987Atypical scarring of skin0LEMD3 CL E G H2359228887ORPHA:1306Buschke-Ollendorff syndromeHP:0040283 - Occasional68
HP:0000987HP:0000987Atypical scarring of skin0LEMD3 CL E G H2359228887ORPHA:166119Isolated osteopoikilosis68
HP:0000987HP:0000987Atypical scarring of skin0LRAT CL E G H92276685ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent62
HP:0000987HP:0000987Atypical scarring of skin0LRP1 CL E G H40356692ORPHA:79100Atrophoderma vermiculata4
HP:0000987HP:0000987Atypical scarring of skin0MAK CL E G H41176816ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent53
HP:0000987HP:0000987Atypical scarring of skin0MAP3K7 CL E G H68856859ORPHA:1826Frontometaphyseal dysplasia11
HP:0000987HP:0000987Atypical scarring of skin0MAP3K7 CL E G H68856859OMIM:617137Frontometaphyseal dysplasia 211
HP:0000987HP:0000987Atypical scarring of skin0MBTPS2 CL E G H5136015455OMIM:308800Keratosis follicularis spinulosa decalvans, X-linked22
HP:0000987HP:0000987Atypical scarring of skin0MERTK CL E G H104617027ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent75
HP:0000987HP:0000987Atypical scarring of skin0MMP1 CL E G H43127155ORPHA:79408Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form6
HP:0000987HP:0000987Atypical scarring of skin0MMP1 CL E G H43127155OMIM:226600Epidermolysis bullosa dystrophica, autosomal recessive6
HP:0000987HP:0000987Atypical scarring of skin0NCSTN CL E G H2338517091OMIM:142690Acne inversa, familial.5
HP:0000987HP:0000987Atypical scarring of skin0NEK2 CL E G H47517745ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent5
HP:0000987HP:0000987Atypical scarring of skin0NLRP1 CL E G H2286114374OMIM:618803RESPIRATORY PAPILLOMATOSIS, JUVENILE RECURRENT, CONGENITAL; JRRP37
HP:0000987HP:0000987Atypical scarring of skin0NR2E3 CL E G H100027974ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent58
HP:0000987HP:0000987Atypical scarring of skin0NRL CL E G H49018002ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent30
HP:0000987HP:0000987Atypical scarring of skin0NTRK1 CL E G H49148031ORPHA:642Hereditary sensory and autonomic neuropathy type 4HP:0040282 - Frequent97
HP:0000987HP:0000987Atypical scarring of skin0OCRL CL E G H49528108ORPHA:534Oculocerebrorenal syndrome of LoweHP:0040283 - Occasional88
HP:0000987HP:0000987Atypical scarring of skin0OFD1 CL E G H84812567ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent201
HP:0000987HP:0000987Atypical scarring of skin0PCARE CL E G H38893934383ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent
HP:0000987HP:0000987Atypical scarring of skin0PDE6A CL E G H51458785ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent116
HP:0000987HP:0000987Atypical scarring of skin0PDE6B CL E G H51588786ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent126
HP:0000987HP:0000987Atypical scarring of skin0PDE6G CL E G H51488789ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent18
HP:0000987HP:0000987Atypical scarring of skin0PLEC CL E G H53399069OMIM:226670Epidermolysis bullosa simplex with muscular dystrophy759
HP:0000987HP:0000987Atypical scarring of skin0PLEC CL E G H53399069ORPHA:158684Epidermolysis bullosa simplex with pyloric atresia759
HP:0000987HP:0000987Atypical scarring of skin0PLEC CL E G H53399069OMIM:226730Epidermolysis bullosa, junctional, with pyloric atresia759
HP:0000987HP:0000987Atypical scarring of skin0PLOD1 CL E G H53519081ORPHA:1900Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiencyHP:0040281 - Very frequent105
HP:0000987HP:0000987Atypical scarring of skin0POMGNT1 CL E G H5562419139ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent180
HP:0000987HP:0000987Atypical scarring of skin0PRCD CL E G H76820632528ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent39
HP:0000987HP:0000987Atypical scarring of skin0PROM1 CL E G H88429454ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent110
HP:0000987HP:0000987Atypical scarring of skin0PRPF3 CL E G H912917348ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent28
HP:0000987HP:0000987Atypical scarring of skin0PRPF31 CL E G H2612115446ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent70
HP:0000987HP:0000987Atypical scarring of skin0PRPF4 CL E G H912817349ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent2
HP:0000987HP:0000987Atypical scarring of skin0PRPF6 CL E G H2414815860ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent51
HP:0000987HP:0000987Atypical scarring of skin0PRPF8 CL E G H1059417340ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent94
HP:0000987HP:0000987Atypical scarring of skin0PRPH2 CL E G H59619942ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent159
HP:0000987HP:0000987Atypical scarring of skin0RBP3 CL E G H59499921ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent108
HP:0000987HP:0000987Atypical scarring of skin0RDH12 CL E G H14522619977ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent45
HP:0000987HP:0000987Atypical scarring of skin0REEP6 CL E G H9284030078ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent5
HP:0000987HP:0000987Atypical scarring of skin0RGR CL E G H59959990ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent28
HP:0000987HP:0000987Atypical scarring of skin0RHO CL E G H601010012ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent107
HP:0000987HP:0000987Atypical scarring of skin0RHOA CL E G H387667OMIM:618727ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES; EDFAOB8
HP:0000987HP:0000987Atypical scarring of skin0RLBP1 CL E G H601710024ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent47
HP:0000987HP:0000987Atypical scarring of skin0ROM1 CL E G H609410254ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent38
HP:0000987HP:0000987Atypical scarring of skin0RP1 CL E G H610110263ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent111
HP:0000987HP:0000987Atypical scarring of skin0RP1L1 CL E G H9413715946ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent284
HP:0000987HP:0000987Atypical scarring of skin0RP2 CL E G H610210274ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent45
HP:0000987HP:0000987Atypical scarring of skin0RP9 CL E G H610010288ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent14
HP:0000987HP:0000987Atypical scarring of skin0RPE65 CL E G H612110294ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent129
HP:0000987HP:0000987Atypical scarring of skin0RPGR CL E G H610310295ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent200
HP:0000987HP:0000987Atypical scarring of skin0SAG CL E G H629510521ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent32
HP:0000987HP:0000987Atypical scarring of skin0SCAPER CL E G H4985513081ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent
HP:0000987HP:0000987Atypical scarring of skin0SEMA4A CL E G H6421810729ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent48
HP:0000987HP:0000987Atypical scarring of skin0SLC39A13 CL E G H9125220859OMIM:612350Ehlers-Danlos syndrome, spondylodysplastic type, 324
HP:0000987HP:0000987Atypical scarring of skin0SLC7A14 CL E G H5770929326ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent4
HP:0000987HP:0000987Atypical scarring of skin0SMAD3 CL E G H40886769ORPHA:284984Aneurysm-osteoarthritis syndromeHP:0040282 - Frequent260
HP:0000987HP:0000987Atypical scarring of skin0SMAD3 CL E G H40886769OMIM:613795LOEYS-DIETZ SYNDROME 3; LDS3260
HP:0000987HP:0000987Atypical scarring of skin0SNRNP200 CL E G H2302030859ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent83
HP:0000987HP:0000987Atypical scarring of skin0SPATA7 CL E G H5581220423ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent48
HP:0000987HP:0000987Atypical scarring of skin0TFAP2A CL E G H702011742ORPHA:1297Branchio-oculo-facial syndromeHP:0040281 - Very frequent12
HP:0000987HP:0000987Atypical scarring of skin0TFAP2A CL E G H702011742OMIM:113620Branchiooculofacial syndrome.12
HP:0000987HP:0000987Atypical scarring of skin0TGFBR1 CL E G H704611772ORPHA:60030Loeys-Dietz syndromeHP:0040282 - Frequent239
HP:0000987HP:0000987Atypical scarring of skin0TGFBR2 CL E G H704811773ORPHA:60030Loeys-Dietz syndromeHP:0040282 - Frequent253
HP:0000987HP:0000987Atypical scarring of skin0TOPORS CL E G H1021021653ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent61
HP:0000987HP:0000987Atypical scarring of skin0TTC8 CL E G H12301620087ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent41
HP:0000987HP:0000987Atypical scarring of skin0TUB CL E G H727512406ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent1
HP:0000987HP:0000987Atypical scarring of skin0TULP1 CL E G H728712423ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent66
HP:0000987HP:0000987Atypical scarring of skin0UROD CL E G H738912591ORPHA:95159Hepatoerythropoietic porphyria31
HP:0000987HP:0000987Atypical scarring of skin0UROS CL E G H739012592ORPHA:79277Congenital erythropoietic porphyria41
HP:0000987HP:0000987Atypical scarring of skin0UROS CL E G H739012592OMIM:263700Porphyria, congenital erythropoietic.41
HP:0000987HP:0000987Atypical scarring of skin0USH2A CL E G H739912601ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent777
HP:0000987HP:0000987Atypical scarring of skin0ZNF408 CL E G H7979720041ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent14
HP:0000987HP:0000987Atypical scarring of skin0ZNF469 CL E G H8462723216OMIM:229200Brittle cornea syndrome.397
HP:0000987HP:0000987Atypical scarring of skin0ZNF513 CL E G H13055726498ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent27
HP:0000987HP:0001075Atrophic scars1ADA2 CL E G H518161839OMIM:182410Sneddon syndrome22
HP:0000987HP:0001075Atrophic scars1AEBP1 CL E G H165303ORPHA:536532Classical-like Ehlers-Danlos syndrome type 2
HP:0000987HP:0001075Atrophic scars1AEBP1 CL E G H165303OMIM:618000Ehlers-Danlos syndrome, classic-like, 2.
HP:0000987HP:0010562Keloids1APC CL E G H324583OMIM:175100Adenomatous polyposis coli.3179
HP:0000987HP:0010562Keloids1APC CL E G H324583ORPHA:79665Gardner syndromeHP:0040283 - Occasional3179
HP:0000987HP:0010562Keloids1ATP7A CL E G H538869ORPHA:198Occipital horn syndromeHP:0040282 - Frequent192
HP:0000987HP:0001075Atrophic scars1B3GALT6 CL E G H12679217978ORPHA:536467B3GALT6-related spondylodysplastic Ehlers-Danlos syndromeHP:0040282 - Frequent38
HP:0000987HP:0001075Atrophic scars1B4GALT7 CL E G H11285930ORPHA:75496B4GALT7-related spondylodysplastic Ehlers-Danlos syndromeHP:0040282 - Frequent29
HP:0000987HP:0001075Atrophic scars1B4GALT7 CL E G H11285930OMIM:130070Ehlers-Danlos syndrome, spondylodysplastic type, 129
HP:0000987HP:0001075Atrophic scars1C1R CL E G H7151246OMIM:130080Ehlers-Danlos syndrome, periodontal type, 1.15
HP:0000987HP:0001075Atrophic scars1C1R CL E G H7151246ORPHA:75392Periodontal Ehlers-Danlos syndromeHP:0040281 - Very frequent15
HP:0000987HP:0001075Atrophic scars1C1S CL E G H7161247ORPHA:75392Periodontal Ehlers-Danlos syndromeHP:0040281 - Very frequent7
HP:0000987HP:0001075Atrophic scars1CARMIL2 CL E G H14620627089OMIM:618131IMMUNODEFICIENCY 58; IMD583
HP:0000987HP:0001075Atrophic scars1CHST14 CL E G H11318924464OMIM:601776Ehlers-Danlos syndrome, musculocontractural type 127
HP:0000987HP:0001075Atrophic scars1CHST14 CL E G H11318924464ORPHA:2953Musculocontractural Ehlers-Danlos syndromeHP:0040281 - Very frequent27
HP:0000987HP:0004552Scarring alopecia of scalp1CLDN1 CL E G H90762032ORPHA:59303Neonatal ichthyosis-sclerosing cholangitis syndromeHP:0040281 - Very frequent11
HP:0000987HP:0001075Atrophic scars1COL12A1 CL E G H13032188ORPHA:610Bethlem myopathy65
HP:0000987HP:0001075Atrophic scars1COL12A1 CL E G H13032188OMIM:616471Bethlem myopathy 265
HP:0000987HP:0004552Scarring alopecia of scalp1COL17A1 CL E G H13082194OMIM:619787EPIDERMOLYSIS BULLOSA, JUNCTIONAL 4, INTERMEDIATE; JEB4129
HP:0000987HP:0001075Atrophic scars1COL17A1 CL E G H13082194ORPHA:79402Intermediate generalized junctional epidermolysis bullosaHP:0040281 - Very frequent129
HP:0000987HP:0004552Scarring alopecia of scalp1COL17A1 CL E G H13082194ORPHA:79402Intermediate generalized junctional epidermolysis bullosaHP:0040281 - Very frequent129
HP:0000987HP:0004552Scarring alopecia of scalp1COL17A1 CL E G H13082194ORPHA:251393Localized junctional epidermolysis bullosaHP:0040283 - Occasional129
HP:0000987HP:0001075Atrophic scars1COL1A1 CL E G H12772197ORPHA:287Classical Ehlers-Danlos syndromeHP:0040281 - Very frequent373
HP:0000987HP:0001075Atrophic scars1COL1A1 CL E G H12772197OMIM:130060Ehlers-Danlos syndrome, arthrochalasia type, 1.373
HP:0000987HP:0001075Atrophic scars1COL1A2 CL E G H12782198ORPHA:230851Cardiac-valvular Ehlers-Danlos syndromeHP:0040282 - Frequent243
HP:0000987HP:0001075Atrophic scars1COL1A2 CL E G H12782198OMIM:617821Ehlers-Danlos syndrome, arthrochalasia type, 2HP:0040284 - Very rare243
HP:0000987HP:0001075Atrophic scars1COL1A2 CL E G H12782198OMIM:225320Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form.243
HP:0000987HP:0001075Atrophic scars1COL3A1 CL E G H12812201OMIM:130050Ehlers-Danlos syndrome, Vascular type749
HP:0000987HP:0001075Atrophic scars1COL3A1 CL E G H12812201OMIM:618343Polymicrogyria with or without vascular-type ehlers-danlos syndrome.749
HP:0000987HP:0001075Atrophic scars1COL3A1 CL E G H12812201ORPHA:286Vascular Ehlers-Danlos syndrome749
HP:0000987HP:0001075Atrophic scars1COL5A1 CL E G H12892209ORPHA:287Classical Ehlers-Danlos syndromeHP:0040281 - Very frequent660
HP:0000987HP:0001075Atrophic scars1COL5A1 CL E G H12892209OMIM:130000Ehlers-danlos syndrome, type I660
HP:0000987HP:0001075Atrophic scars1COL5A1 CL E G H12892209OMIM:619329FIBROMUSCULAR DYSPLASIA, MULTIFOCAL; FMDMF660
HP:0000987HP:0001075Atrophic scars1COL5A2 CL E G H12902210ORPHA:287Classical Ehlers-Danlos syndromeHP:0040281 - Very frequent325
HP:0000987HP:0001075Atrophic scars1COL5A2 CL E G H12902210OMIM:130010Ehlers-Danlos syndrome, classic type, 2325
HP:0000987HP:0001075Atrophic scars1COL6A1 CL E G H12912211ORPHA:610Bethlem myopathy442
HP:0000987HP:0001075Atrophic scars1COL6A2 CL E G H12922212ORPHA:610Bethlem myopathy478
HP:0000987HP:0001075Atrophic scars1COL6A3 CL E G H12932213ORPHA:610Bethlem myopathy702
HP:0000987HP:0001075Atrophic scars1COL7A1 CL E G H12942214ORPHA:231568Autosomal dominant generalized dystrophic epidermolysis bullosaHP:0040283 - Occasional263
HP:0000987HP:0001075Atrophic scars1COL7A1 CL E G H12942214ORPHA:79408Autosomal recessive generalized dystrophic epidermolysis bullosa, severe formHP:0040281 - Very frequent263
HP:0000987HP:0001075Atrophic scars1COL7A1 CL E G H12942214ORPHA:89843Dystrophic epidermolysis bullosa pruriginosaHP:0040283 - Occasional263
HP:0000987HP:0001075Atrophic scars1COL7A1 CL E G H12942214OMIM:131750Epidermolysis bullosa dystrophica, autosomal dominant.263
HP:0000987HP:0001075Atrophic scars1COL7A1 CL E G H12942214OMIM:226600Epidermolysis bullosa dystrophica, autosomal recessive.263
HP:0000987HP:0010562Keloids1COL7A1 CL E G H12942214ORPHA:79410Localized dystrophic epidermolysis bullosa, pretibial formHP:0040282 - Frequent263
HP:0000987HP:0001075Atrophic scars1COL7A1 CL E G H12942214ORPHA:79410Localized dystrophic epidermolysis bullosa, pretibial formHP:0040282 - Frequent263
HP:0000987HP:0001075Atrophic scars1COL7A1 CL E G H12942214ORPHA:79409Recessive dystrophic epidermolysis bullosa inversaHP:0040282 - Frequent263
HP:0000987HP:0001075Atrophic scars1COL7A1 CL E G H12942214ORPHA:79411Self-improving dystrophic epidermolysis bullosaHP:0040282 - Frequent263
HP:0000987HP:0001075Atrophic scars1COL7A1 CL E G H12942214OMIM:131705Transient bullous dermolysis of the newborn.263
HP:0000987HP:0010562Keloids1CREBBP CL E G H13872348OMIM:180849Rubinstein-Taybi syndrome 1291
HP:0000987HP:0010562Keloids1CREBBP CL E G H13872348ORPHA:353281Rubinstein-Taybi syndrome due to 16p13.3 microdeletionHP:0040283 - Occasional291
HP:0000987HP:0010562Keloids1CREBBP CL E G H13872348ORPHA:353277Rubinstein-Taybi syndrome due to CREBBP mutationsHP:0040284 - Very rare291
HP:0000987HP:0001075Atrophic scars1CTSC CL E G H10752528ORPHA:678Papillon-Lefèvre syndrome50
HP:0000987HP:0001075Atrophic scars1DSE CL E G H2994021144ORPHA:2953Musculocontractural Ehlers-Danlos syndromeHP:0040281 - Very frequent13
HP:0000987HP:0004552Scarring alopecia of scalp1EBP CL E G H106823133ORPHA:35173X-linked dominant chondrodysplasia punctataHP:0040281 - Very frequent51
HP:0000987HP:0010562Keloids1EP300 CL E G H20333373OMIM:180849Rubinstein-Taybi syndrome 1250
HP:0000987HP:0010562Keloids1EP300 CL E G H20333373ORPHA:353284Rubinstein-Taybi syndrome due to EP300 haploinsufficiencyHP:0040284 - Very rare250
HP:0000987HP:0001075Atrophic scars1FKBP14 CL E G H5503318625ORPHA:300179Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiencyHP:0040282 - Frequent13
HP:0000987HP:0010562Keloids1FLNA CL E G H23163754ORPHA:1826Frontometaphyseal dysplasiaHP:0040282 - Frequent493
HP:0000987HP:0004552Scarring alopecia of scalp1GATA1 CL E G H26234170ORPHA:79277Congenital erythropoietic porphyriaHP:0040283 - Occasional29
HP:0000987HP:0004552Scarring alopecia of scalp1GJB2 CL E G H27064284OMIM:602540Ichthyosis, hystrix-like, with deafness.199
HP:0000987HP:0004552Scarring alopecia of scalp1GJB2 CL E G H27064284ORPHA:477KID syndrome199
HP:0000987HP:0004552Scarring alopecia of scalp1GJB6 CL E G H108044288ORPHA:477KID syndrome56
HP:0000987HP:0004552Scarring alopecia of scalp1ITGB4 CL E G H36916158ORPHA:158684Epidermolysis bullosa simplex with pyloric atresiaHP:0040283 - Occasional124
HP:0000987HP:0001075Atrophic scars1ITGB4 CL E G H36916158ORPHA:158684Epidermolysis bullosa simplex with pyloric atresiaHP:0040283 - Occasional124
HP:0000987HP:0001075Atrophic scars1ITGB4 CL E G H36916158OMIM:226730Epidermolysis bullosa, junctional, with pyloric atresia.124
HP:0000987HP:0001075Atrophic scars1ITGB4 CL E G H36916158ORPHA:79402Intermediate generalized junctional epidermolysis bullosaHP:0040281 - Very frequent124
HP:0000987HP:0004552Scarring alopecia of scalp1ITGB4 CL E G H36916158ORPHA:79402Intermediate generalized junctional epidermolysis bullosaHP:0040281 - Very frequent124
HP:0000987HP:0004552Scarring alopecia of scalp1ITGB4 CL E G H36916158ORPHA:251393Localized junctional epidermolysis bullosaHP:0040283 - Occasional124
HP:0000987HP:0001075Atrophic scars1KRT14 CL E G H38616416ORPHA:79396Autosomal dominant generalized epidermolysis bullosa simplex, severe formHP:0040282 - Frequent110
HP:0000987HP:0001075Atrophic scars1KRT14 CL E G H38616416ORPHA:89838Autosomal recessive generalized epidermolysis bullosa simplexHP:0040283 - Occasional110
HP:0000987HP:0001075Atrophic scars1KRT14 CL E G H38616416OMIM:131760Epidermolysis bullosa simplex, Dowling-Meara typeHP:0040283 - Occasional110
HP:0000987HP:0001075Atrophic scars1KRT14 CL E G H38616416ORPHA:79400Localized epidermolysis bullosa simplexHP:0040284 - Very rare110
HP:0000987HP:0001075Atrophic scars1KRT5 CL E G H38526442ORPHA:79396Autosomal dominant generalized epidermolysis bullosa simplex, severe formHP:0040282 - Frequent173
HP:0000987HP:0001075Atrophic scars1KRT5 CL E G H38526442OMIM:131760Epidermolysis bullosa simplex, Dowling-Meara typeHP:0040283 - Occasional173
HP:0000987HP:0001075Atrophic scars1KRT5 CL E G H38526442ORPHA:79400Localized epidermolysis bullosa simplexHP:0040284 - Very rare173
HP:0000987HP:0001075Atrophic scars1LAMA3 CL E G H39096483OMIM:226700Epidermolysis bullosa, junctional, Herlitz type.116
HP:0000987HP:0004552Scarring alopecia of scalp1LAMA3 CL E G H39096483ORPHA:79402Intermediate generalized junctional epidermolysis bullosaHP:0040281 - Very frequent116
HP:0000987HP:0001075Atrophic scars1LAMA3 CL E G H39096483ORPHA:79402Intermediate generalized junctional epidermolysis bullosaHP:0040281 - Very frequent116
HP:0000987HP:0001075Atrophic scars1LAMB3 CL E G H39146490OMIM:226700Epidermolysis bullosa, junctional, Herlitz type.167
HP:0000987HP:0001075Atrophic scars1LAMB3 CL E G H39146490ORPHA:79402Intermediate generalized junctional epidermolysis bullosaHP:0040281 - Very frequent167
HP:0000987HP:0004552Scarring alopecia of scalp1LAMB3 CL E G H39146490ORPHA:79402Intermediate generalized junctional epidermolysis bullosaHP:0040281 - Very frequent167
HP:0000987HP:0001075Atrophic scars1LAMC2 CL E G H39186493OMIM:226700Epidermolysis bullosa, junctional, Herlitz type.135
HP:0000987HP:0001075Atrophic scars1LAMC2 CL E G H39186493ORPHA:79402Intermediate generalized junctional epidermolysis bullosaHP:0040281 - Very frequent135
HP:0000987HP:0004552Scarring alopecia of scalp1LAMC2 CL E G H39186493ORPHA:79402Intermediate generalized junctional epidermolysis bullosaHP:0040281 - Very frequent135
HP:0000987HP:0010562Keloids1LEMD3 CL E G H2359228887ORPHA:166119Isolated osteopoikilosis68
HP:0000987HP:0001075Atrophic scars1LRP1 CL E G H40356692ORPHA:79100Atrophoderma vermiculataHP:0040281 - Very frequent4
HP:0000987HP:0010562Keloids1MAP3K7 CL E G H68856859ORPHA:1826Frontometaphyseal dysplasiaHP:0040282 - Frequent11
HP:0000987HP:0010562Keloids1MAP3K7 CL E G H68856859OMIM:617137Frontometaphyseal dysplasia 211
HP:0000987HP:0004552Scarring alopecia of scalp1MBTPS2 CL E G H5136015455OMIM:308800Keratosis follicularis spinulosa decalvans, X-linked.22
HP:0000987HP:0001075Atrophic scars1MMP1 CL E G H43127155ORPHA:79408Autosomal recessive generalized dystrophic epidermolysis bullosa, severe formHP:0040281 - Very frequent6
HP:0000987HP:0001075Atrophic scars1MMP1 CL E G H43127155OMIM:226600Epidermolysis bullosa dystrophica, autosomal recessive.6
HP:0000987HP:0100837Atrophodermia vermiculata1NLRP1 CL E G H2286114374OMIM:618803RESPIRATORY PAPILLOMATOSIS, JUVENILE RECURRENT, CONGENITAL; JRRP37
HP:0000987HP:0004552Scarring alopecia of scalp1PLEC CL E G H53399069OMIM:226670Epidermolysis bullosa simplex with muscular dystrophy.759
HP:0000987HP:0004552Scarring alopecia of scalp1PLEC CL E G H53399069ORPHA:158684Epidermolysis bullosa simplex with pyloric atresiaHP:0040283 - Occasional759
HP:0000987HP:0001075Atrophic scars1PLEC CL E G H53399069ORPHA:158684Epidermolysis bullosa simplex with pyloric atresiaHP:0040283 - Occasional759
HP:0000987HP:0001075Atrophic scars1PLEC CL E G H53399069OMIM:226730Epidermolysis bullosa, junctional, with pyloric atresia.759
HP:0000987HP:0001075Atrophic scars1PLOD1 CL E G H53519081ORPHA:1900Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiencyHP:0040282 - Frequent105
HP:0000987HP:0004552Scarring alopecia of scalp1RHOA CL E G H387667OMIM:618727ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES; EDFAOB8
HP:0000987HP:0001075Atrophic scars1SLC39A13 CL E G H9125220859OMIM:612350Ehlers-Danlos syndrome, spondylodysplastic type, 324
HP:0000987HP:0001075Atrophic scars1SMAD3 CL E G H40886769OMIM:613795LOEYS-DIETZ SYNDROME 3; LDS3260
HP:0000987HP:0004552Scarring alopecia of scalp1UROD CL E G H738912591ORPHA:95159Hepatoerythropoietic porphyriaHP:0040283 - Occasional31
HP:0000987HP:0004552Scarring alopecia of scalp1UROS CL E G H739012592ORPHA:79277Congenital erythropoietic porphyriaHP:0040283 - Occasional41
HP:0000987HP:0031158Widened atrophic scar2AEBP1 CL E G H165303ORPHA:536532Classical-like Ehlers-Danlos syndrome type 2HP:0040281 - Very frequent
HP:0000987HP:0001073Cigarette-paper scars2COL12A1 CL E G H13032188ORPHA:610Bethlem myopathyHP:0040283 - Occasional65
HP:0000987HP:0001073Cigarette-paper scars2COL1A1 CL E G H12772197ORPHA:287Classical Ehlers-Danlos syndromeHP:0040281 - Very frequent373
HP:0000987HP:0001073Cigarette-paper scars2COL3A1 CL E G H12812201OMIM:130050Ehlers-Danlos syndrome, Vascular type.749
HP:0000987HP:0001073Cigarette-paper scars2COL3A1 CL E G H12812201ORPHA:286Vascular Ehlers-Danlos syndromeHP:0040283 - Occasional749
HP:0000987HP:0001073Cigarette-paper scars2COL5A1 CL E G H12892209ORPHA:287Classical Ehlers-Danlos syndromeHP:0040281 - Very frequent660
HP:0000987HP:0001073Cigarette-paper scars2COL5A1 CL E G H12892209OMIM:130000Ehlers-danlos syndrome, type I660
HP:0000987HP:0001073Cigarette-paper scars2COL5A2 CL E G H12902210ORPHA:287Classical Ehlers-Danlos syndromeHP:0040281 - Very frequent325
HP:0000987HP:0001073Cigarette-paper scars2COL5A2 CL E G H12902210OMIM:130010Ehlers-Danlos syndrome, classic type, 2325
HP:0000987HP:0001073Cigarette-paper scars2COL6A1 CL E G H12912211ORPHA:610Bethlem myopathyHP:0040283 - Occasional442
HP:0000987HP:0001073Cigarette-paper scars2COL6A2 CL E G H12922212ORPHA:610Bethlem myopathyHP:0040283 - Occasional478
HP:0000987HP:0001073Cigarette-paper scars2COL6A3 CL E G H12932213ORPHA:610Bethlem myopathyHP:0040283 - Occasional702
HP:0000987HP:0001073Cigarette-paper scars2CTSC CL E G H10752528ORPHA:678Papillon-Lefèvre syndromeHP:0040283 - Occasional50
HP:0000987HP:0031158Widened atrophic scar2PLOD1 CL E G H53519081ORPHA:1900Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiencyHP:0040283 - Occasional105
HP:0000987HP:0001073Cigarette-paper scars2SLC39A13 CL E G H9125220859OMIM:612350Ehlers-Danlos syndrome, spondylodysplastic type, 324


Genes (148) :ABCA4 ADA2 AEBP1 AGBL5 AHI1 AHR APC ARHGEF18 ARL2BP ARL3 ARL6 ATP7A B3GALT6 B4GALT7 BBS1 BBS2 BEST1 C1R C1S CA4 CARMIL2 CDHR1 CERKL CFAP418 CHST14 CLDN1 CLRN1 CNGA1 CNGB1 COL12A1 COL17A1 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2 COL6A1 COL6A2 COL6A3 COL7A1 CPOX CRB1 CREBBP CRX CTSC DHDDS DHX38 DSE EBP EP300 EPHB4 ERCC6 ERCC8 EYS FAM161A FERMT1 FKBP14 FLNA FSCN2 GATA1 GJB2 GJB6 GUCA1B HGSNAT IDH3A IDH3B IFT140 IFT172 IFT88 IMPDH1 IMPG1 IMPG2 IPO8 ITGB4 KIAA1549 KIZ KLHL7 KRT14 KRT5 LAMA3 LAMB3 LAMC2 LEMD3 LRAT LRP1 MAK MAP3K7 MBTPS2 MERTK MMP1 NCSTN NEK2 NLRP1 NR2E3 NRL NTRK1 OCRL OFD1 PCARE PDE6A PDE6B PDE6G PLEC PLOD1 POMGNT1 PRCD PROM1 PRPF3 PRPF31 PRPF4 PRPF6 PRPF8 PRPH2 RBP3 RDH12 REEP6 RGR RHO RHOA RLBP1 ROM1 RP1 RP1L1 RP2 RP9 RPE65 RPGR SAG SCAPER SEMA4A SLC39A13 SLC7A14 SMAD3 SNRNP200 SPATA7 TFAP2A TGFBR1 TGFBR2 TOPORS TTC8 TUB TULP1 UROD UROS USH2A ZNF408 ZNF469 ZNF513

Diseases (87) :ORPHA:791 OMIM:182410 ORPHA:536532 OMIM:618000 OMIM:175100 ORPHA:79665 ORPHA:565 ORPHA:198 ORPHA:536467 ORPHA:75496 OMIM:130070 OMIM:130080 ORPHA:75392 OMIM:618131 OMIM:601776 ORPHA:2953 ORPHA:59303 ORPHA:610 OMIM:616471 OMIM:619787 ORPHA:79402 ORPHA:251393 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:35173 ORPHA:353284 ORPHA:90186 OMIM:133540 OMIM:216400 ORPHA:2908 ORPHA:300179 ORPHA:1826 ORPHA:79277 OMIM:602540 ORPHA:477 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:142690 OMIM:618803 ORPHA:642 ORPHA:534 OMIM:226670 ORPHA:1900 OMIM:618727 OMIM:612350 ORPHA:284984 OMIM:613795 ORPHA:1297 OMIM:113620 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.