Creative Commons Attribution 4.0 International CC-BY-4.0 https://creativecommons.org/licenses/by/4.0/legalcode 162712 Orphanet classification of rare skin diseases 89826 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=89826 Rare skin disease Category 79353 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79353 Epidermal disease Category 79354 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79354 Ichthyosis Category 454 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=454 Acquired ichthyosis Disease 183435 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183435 Inherited ichthyosis Category 281082 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281082 Inherited non-syndromic ichthyosis Category 461 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=461 Recessive X-linked ichthyosis Disease 317 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=317 Erythrokeratodermia variabilis Disease 817 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=817 Peeling skin syndrome Clinical group 263534 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263534 Acral peeling skin syndrome Disease 263543 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263543 Generalized peeling skin syndrome Disease 263548 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263548 Peeling skin syndrome type A Clinical subtype 263553 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263553 Peeling skin syndrome type B Clinical subtype 79395 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79395 Keratoderma hereditarium mutilans with ichthyosis Disease 281097 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281097 Autosomal recessive congenital ichthyosis Clinical group 313 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313 Lamellar ichthyosis Disease 457 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457 Harlequin ichthyosis Disease 79394 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79394 Congenital ichthyosiform erythroderma Disease 100976 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100976 Bathing suit ichthyosis Disease 281122 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281122 Self-improving collodion baby Disease 281127 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281127 Acral self-healing collodion baby Disease 289586 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289586 Exfoliative ichthyosis Disease 281103 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281103 Keratinopathic ichthyosis Clinical group 281190 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281190 Congenital reticular ichthyosiform erythroderma Disease 312 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=312 Autosomal dominant epidermolytic ichthyosis Disease 455 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=455 Superficial epidermolytic ichthyosis Disease 79503 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79503 Ichthyosis hystrix of Curth-Macklin Disease 281139 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281139 Annular epidermolytic ichthyosis Disease 512103 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=512103 Autosomal recessive epidermolytic ichthyosis Disease 497737 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=497737 Epidermolytic nevus Disease 281201 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281201 Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome Disease 444138 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444138 Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome Disease 281085 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281085 Inherited ichthyosis syndromic form Category 281210 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281210 X-linked ichthyosis syndrome Clinical group 139 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139 CHILD syndrome Disease 2273 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2273 Ichthyosis follicularis-alopecia-photophobia syndrome Disease 35173 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35173 X-linked dominant chondrodysplasia punctata Disease 281090 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281090 Syndromic recessive X-linked ichthyosis Disease 281217 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281217 Autosomal ichthyosis syndrome Category 281222 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281222 Autosomal ichthyosis syndrome with prominent hair abnormalities Category 634 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=634 Netherton syndrome Disease 59303 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=59303 Neonatal ichthyosis-sclerosing cholangitis syndrome Disease 91132 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91132 Ichthyosis-hypotrichosis syndrome Disease 33364 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33364 Trichothiodystrophy Disease 281238 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281238 Autosomal ichthyosis syndrome with prominent neurologic signs Category 773 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=773 Adult Refsum disease Disease 816 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=816 Sjögren-Larsson syndrome Disease 2269 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2269 Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome Disease 2271 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2271 Congenital ichthyosis-microcephalus-tetraplegia syndrome Disease 2671 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2671 Neu-Laxova syndrome Malformation syndrome 583612 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=583612 Neu-Laxova syndrome due to 3-phosphoserine phosphatase deficiency Etiological subtype 583602 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=583602 Neu-Laxova syndrome due to phosphoserine aminotransferase deficiency Etiological subtype 583607 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=583607 Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency Etiological subtype 171851 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171851 MEDNIK syndrome Disease 352333 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352333 Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome Disease 281241 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281241 Autosomal ichthyosis syndrome with fatal disease course Category 585 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=585 Multiple sulfatase deficiency Disease 2697 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2697 Arthrogryposis-renal dysfunction-cholestasis syndrome Malformation syndrome 66631 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66631 CEDNIK syndrome Disease 85212 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85212 Fetal Gaucher disease Clinical subtype 2671 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2671 Neu-Laxova syndrome Malformation syndrome 583612 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=583612 Neu-Laxova syndrome due to 3-phosphoserine phosphatase deficiency Etiological subtype 583602 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=583602 Neu-Laxova syndrome due to phosphoserine aminotransferase deficiency Etiological subtype 583607 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=583607 Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency Etiological subtype 281244 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281244 Autosomal ichthyosis syndrome with other associated signs Category 477 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477 KID syndrome Disease 3151 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3151 Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome Disease 2272 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2272 Ichthyosis-oral and digital anomalies syndrome Malformation syndrome 2274 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2274 Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome Disease 2278 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2278 Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome Malformation syndrome 75325 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75325 Osteosclerosis-ichthyosis-premature ovarian failure syndrome Disease 3055 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3055 X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome Malformation syndrome 88621 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88621 Ichthyosis-prematurity syndrome Disease 91131 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91131 DK1-CDG Disease 98907 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98907 Neutral lipid storage disease with ichthyosis Disease 363992 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363992 Ichthyosis-short stature-brachydactyly-microspherophakia syndrome Disease 404454 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404454 Alacrimia-choreoathetosis-liver dysfunction syndrome Disease 79355 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79355 Erythrokeratoderma Category 2897 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2897 Pityriasis rubra pilaris Disease 1955 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1955 Spinocerebellar ataxia type 34 Disease 315 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=315 Erythrokeratoderma ''en cocardes'' Disease 171851 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171851 MEDNIK syndrome Disease 308166 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308166 Erythrokeratoderma variabilis progressiva Clinical group 317 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=317 Erythrokeratodermia variabilis Disease 316 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=316 Progressive symmetric erythrokeratodermia Disease 330029 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=330029 Hypotrichosis-deafness syndrome Disease 476096 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=476096 Erythrokeratodermia-cardiomyopathy syndrome Disease 79356 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79356 Acrokeratoderma Category 99710 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99710 Punctate acrokeratoderma freckle-like pigmentation Disease 38 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=38 Acrokeratoelastoidosis of Costa Disease 79151 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79151 Acrokeratosis verruciformis of Hopf Disease 79357 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79357 Hereditary palmoplantar keratoderma Category 307141 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=307141 Diffuse palmoplantar keratoderma Category 307148 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=307148 Isolated diffuse palmoplantar keratoderma Clinical group 98349 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98349 Autosomal dominant isolated diffuse palmoplantar keratoderma Category 495 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=495 Transgrediens et progrediens palmoplantar keratoderma Disease 2199 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2199 Epidermolytic palmoplantar keratoderma Disease 2337 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2337 Diffuse palmoplantar keratoderma, Bothnian type Disease 369999 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369999 Diffuse palmoplantar keratoderma with painful fissures Disease 530838 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=530838 KRT1-related diffuse nonepidermolytic keratoderma Disease 98356 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98356 Autosomal recessive isolated diffuse palmoplantar keratoderma Category 87503 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=87503 Mal de Meleda Disease 140966 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140966 Palmoplantar keratoderma, Nagashima type Disease 307711 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=307711 Disease with diffuse palmoplantar keratoderma as a major feature Category 98352 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98352 Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature Category 477 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477 KID syndrome Disease 189 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=189 Hidrotic ectodermal dysplasia Disease 1010 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1010 Autosomal dominant palmoplantar keratoderma and congenital alopecia Disease 2202 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2202 Palmoplantar keratoderma-deafness syndrome Disease 2698 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2698 Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome Disease 316 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=316 Progressive symmetric erythrokeratodermia Disease 384 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=384 Huriez syndrome Disease 69087 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69087 Naegeli-Franceschetti-Jadassohn syndrome Disease 86918 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86918 Diffuse palmoplantar keratoderma-acrocyanosis syndrome Disease 86919 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86919 Keratosis palmaris et plantaris-clinodactyly syndrome Disease 86920 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86920 Dermatopathia pigmentosa reticularis Disease 307766 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=307766 Curly hair-acral keratoderma-caries syndrome Disease 307773 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=307773 Autosomal dominant diffuse mutilating palmoplantar keratoderma Clinical group 494 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494 Keratoderma hereditarium mutilans Disease 659 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659 Mutilating palmoplantar keratoderma with periorificial keratotic plaques Disease 79395 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79395 Keratoderma hereditarium mutilans with ichthyosis Disease 281201 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281201 Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome Disease 352662 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352662 Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome Disease 538574 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=538574 Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome Disease 307804 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=307804 Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature Category 66631 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66631 CEDNIK syndrome Disease 477 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477 KID syndrome Disease 1366 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1366 Autosomal recessive palmoplantar keratoderma and congenital alopecia Disease 2342 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2342 Haim-Munk syndrome Disease 2721 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2721 Odonto-onycho-dermal dysplasia Disease 678 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=678 Papillon-Lefèvre syndrome Disease 34217 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=34217 Naxos disease Disease 50944 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50944 Schöpf-Schulz-Passarge syndrome Disease 85112 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85112 Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome Disease 293165 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293165 Skin fragility-woolly hair-palmoplantar keratoderma syndrome Disease 363523 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363523 Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome Disease 447961 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447961 Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome Disease 307837 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=307837 Focal palmoplantar keratoderma Category 307846 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=307846 Isolated focal palmoplantar keratoderma Clinical group 50942 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50942 Striate palmoplantar keratoderma Disease 79141 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79141 Hereditary painful callosities Disease 370002 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370002 Focal palmoplantar keratoderma with joint keratoses Disease 402003 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=402003 Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering Disease 448264 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=448264 Isolated focal non-epidermolytic palmoplantar keratoderma Disease 307871 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=307871 Disease with focal palmoplantar keratoderma as a major feature Category 98353 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98353 Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature Category 2198 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2198 Palmoplantar keratoderma-esophageal carcinoma syndrome Disease 2200 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2200 Focal palmoplantar and gingival keratoderma Disease 2309 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2309 Pachyonychia congenita Disease 307936 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=307936 Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome Disease 98357 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98357 Autosomal recessive disease with focal palmoplantar keratoderma as a major feature Category 28378 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=28378 Tyrosinemia type 2 Disease 65282 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65282 Carvajal syndrome Disease 420686 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420686 Woolly hair-palmoplantar keratoderma syndrome Disease 423454 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423454 Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome Disease 307967 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=307967 Punctate palmoplantar keratoderma Category 2338 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2338 Isolated punctate palmoplantar keratoderma Clinical group 737 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=737 Porokeratosis plantaris palmaris et disseminata Disease 79501 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79501 Punctate palmoplantar keratoderma type 1 Disease 79502 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79502 Punctate palmoplantar keratoderma type 2 Disease 307995 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=307995 Marginal papular palmoplantar keratoderma Clinical group 38 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=38 Acrokeratoelastoidosis of Costa Disease 308013 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308013 Focal acral hyperkeratosis Disease 444138 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444138 Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome Disease 308023 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308023 Disease with punctate palmoplantar keratoderma as a major feature Category 308031 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308031 Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature Category 1336 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1336 Hyperkeratosis-hyperpigmentation syndrome Disease 2201 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2201 Palmoplantar keratoderma-spastic paralysis syndrome Disease 324561 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324561 Hypopigmentation-punctate palmoplantar keratoderma syndrome Disease 308041 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308041 Autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature Category 2386 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2386 Leukoencephalopathy-palmoplantar keratoderma syndrome Disease 79358 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79358 Porokeratosis Category 735 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=735 Porokeratosis of Mibelli Disease 737 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=737 Porokeratosis plantaris palmaris et disseminata Disease 79152 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79152 Disseminated superficial actinic porokeratosis Disease 79359 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79359 Other epidermal disorder Category 482606 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=482606 X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome Malformation syndrome 158687 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158687 Lethal acantholytic erosive disorder Disease 488168 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488168 Microcephaly-congenital cataract-psoriasiform dermatitis syndrome Malformation syndrome 2841 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2841 Hailey-Hailey disease Disease 218 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=218 Darier disease Disease 1658 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1658 Absence of fingerprints-congenital milia syndrome Disease 1867 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1867 Hereditary bullous dystrophy, macular type Disease 2339 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2339 Keratosis follicularis-dwarfism-cerebral atrophy syndrome Malformation syndrome 2388 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2388 Choreoacanthocytosis Disease 409 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=409 Hyperkeratosis lenticularis perstans Disease 498 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498 Keratosis pilaris atrophicans Clinical group 2340 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2340 Keratosis follicularis spinulosa decalvans Disease 3406 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3406 Ulerythema ophryogenesis Disease 79100 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79100 Atrophoderma vermiculata Disease 50943 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50943 Keratolytic winter erythema Disease 69744 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69744 Circumscribed palmoplantar hypokeratosis Disease 69745 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69745 Warty dyskeratoma Disease 85165 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85165 Severe achondroplasia-developmental delay-acanthosis nigricans syndrome Disease 90301 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90301 Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome Disease 163927 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163927 Pustulosis palmaris et plantaris Disease 163931 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163931 Acrodermatitis continua of Hallopeau Disease 168606 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168606 Seborrhea-like dermatitis with psoriasiform elements Disease 231573 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231573 Congenital erosive and vesicular dermatosis Disease 247353 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247353 Generalized pustular psoriasis Disease 294023 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294023 Neonatal erythroderma-autoinflammation-inflammatory bowel disease syndrome Disease 369992 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369992 Severe dermatitis-multiple allergies-metabolic wasting syndrome Disease 412035 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=412035 13q12.3 microdeletion syndrome Malformation syndrome 439196 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439196 Zinc-responsive necrolytic acral erythema Particular clinical situation in a disease or syndrome 697356 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=697356 Congenital scalp aplasia cutis-enamel hypoplasia-developmental delay-intellectual disability syndrome Malformation syndrome 498359 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498359 Aquagenic palmoplantar keratoderma Disease 79361 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79361 Inherited epidermolysis bullosa Category 303 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=303 Dystrophic epidermolysis bullosa Clinical group 79408 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form Disease 79409 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79409 Recessive dystrophic epidermolysis bullosa inversa Disease 595356 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=595356 Localized dystrophic epidermolysis bullosa Disease 79410 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79410 Localized dystrophic epidermolysis bullosa, pretibial form Clinical subtype 158673 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158673 Localized dystrophic epidermolysis bullosa, acral form Clinical subtype 158676 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158676 Localized dystrophic epidermolysis bullosa, nails only Clinical subtype 79411 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79411 Self-improving dystrophic epidermolysis bullosa Disease 89842 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=89842 Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form Disease 89843 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=89843 Dystrophic epidermolysis bullosa pruriginosa Disease 231568 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231568 Autosomal dominant generalized dystrophic epidermolysis bullosa Disease 304 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=304 Epidermolysis bullosa simplex Clinical group 595346 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=595346 Epidermolysis bullosa simplex without extracutaneous involvement Category 412181 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=412181 Epidermolysis bullosa simplex due to BP230 deficiency Disease 412189 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=412189 Epidermolysis bullosa simplex due to exophilin 5 deficiency Disease 79396 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79396 Autosomal dominant generalized epidermolysis bullosa simplex, severe form Disease 79397 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79397 Epidermolysis bullosa simplex with mottled pigmentation Disease 79399 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79399 Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form Disease 79400 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79400 Localized epidermolysis bullosa simplex Disease 79401 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79401 PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement Disease 89838 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=89838 Autosomal recessive generalized epidermolysis bullosa simplex Disease 158681 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158681 Epidermolysis bullosa simplex with circinate migratory erythema Disease 595351 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=595351 Epidermolysis bullosa simplex with extracutaneous involvement Category 508529 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508529 Intermediate epidermolysis bullosa simplex with cardiomyopathy Disease 2325 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2325 Epidermolysis bullosa simplex with anodontia/hypodontia Malformation syndrome 257 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=257 Epidermolysis bullosa simplex with muscular dystrophy Disease 158684 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158684 Epidermolysis bullosa simplex with pyloric atresia Disease 300333 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300333 Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome Disease 2908 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2908 Kindler epidermolysis bullosa Disease 305 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=305 Junctional epidermolysis bullosa Clinical group 2407 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2407 Laryngo-onycho-cutaneous syndrome Disease 79403 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79403 Junctional epidermolysis bullosa with pyloric atresia Disease 79404 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79404 Severe generalized junctional epidermolysis bullosa Disease 79405 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79405 Junctional epidermolysis bullosa inversa Disease 79406 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79406 Late-onset junctional epidermolysis bullosa Disease 251393 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251393 Localized junctional epidermolysis bullosa Disease 231556 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231556 Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome Disease 306504 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306504 Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome Disease 79402 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79402 Intermediate generalized junctional epidermolysis bullosa Disease 222628 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=222628 Hereditary poikiloderma Category 1775 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1775 Dyskeratosis congenita Disease 902 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=902 Werner syndrome Disease 2909 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2909 Rothmund-Thomson syndrome Disease 221008 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221008 Rothmund-Thomson syndrome type 1 Clinical subtype 221016 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221016 Rothmund-Thomson syndrome type 2 Clinical subtype 221039 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221039 Hereditary sclerosing poikiloderma, Weary type Disease 221043 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221043 Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome Disease 221046 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221046 Poikiloderma with neutropenia Disease 2907 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2907 Hereditary acrokeratotic poikiloderma Disease 254367 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254367 Rare lichen planus Category 254370 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254370 Rare cutaneous lichen planus Category 505 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=505 Graham Little-Piccardi-Lassueur syndrome Disease 525 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=525 Lichen planopilaris Disease 33408 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33408 Bullous lichen planus Disease 254379 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254379 Linear lichen planus Disease 254395 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254395 Actinic lichen planus Disease 254411 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254411 Annular atrophic lichen planus Disease 254424 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254424 Annular lichen planus Disease 254449 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254449 Atrophic lichen planus Disease 254463 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254463 Lichen planus pigmentosus Disease 254478 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254478 Lichen planus pemphigoides Disease 254492 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254492 Frontal fibrosing alopecia Disease 254373 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254373 Rare mucosal lichen planus Category 83453 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83453 Vulvovaginal gingival syndrome Disease 79362 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79362 Epidermal appendage anomaly Category 79363 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79363 Hair anomaly Category 79364 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79364 Alopecia Category 1006 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1006 Alopecia antibody deficiency Disease 1008 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1008 Alopecia-epilepsy-pyorrhea-intellectual disability syndrome Disease 701 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=701 Alopecia universalis Disease 1014 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1014 Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome Disease 2273 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2273 Ichthyosis follicularis-alopecia-photophobia syndrome Disease 2701 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2701 Noonan syndrome-like disorder with loose anagen hair Malformation syndrome 2850 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2850 Alopecia-intellectual disability syndrome Disease 129 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=129 Pseudopelade of Brocq Disease 168 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168 Loose anagen syndrome Disease 346 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=346 Quinquaud folliculitis decalvans Disease 505 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=505 Graham Little-Piccardi-Lassueur syndrome Disease 444 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444 Marie Unna hereditary hypotrichosis Disease 525 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=525 Lichen planopilaris Disease 700 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700 Alopecia totalis Disease 55654 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=55654 Hypotrichosis simplex Disease 86819 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86819 Atrichia with papular lesions Disease 90368 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90368 Hypotrichosis simplex of the scalp Disease 91132 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91132 Ichthyosis-hypotrichosis syndrome Disease 157954 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157954 ANE syndrome Disease 217407 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217407 Hereditary hypotrichosis with recurrent skin vesicles Disease 228390 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228390 Frontonasal dysplasia-alopecia-genital anomalies syndrome Malformation syndrome 254492 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254492 Frontal fibrosing alopecia Disease 330029 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=330029 Hypotrichosis-deafness syndrome Disease 443995 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443995 Mandibulofacial dysostosis with alopecia Malformation syndrome 3130 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3130 Satoyoshi syndrome Disease 447961 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447961 Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome Disease 79365 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79365 Rare disorder with hypertrichosis Category 1021 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1021 Amaurosis-hypertrichosis syndrome Disease 508 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508 Donohue syndrome Malformation syndrome 1231 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1231 Barber-Say syndrome Malformation syndrome 1375 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1375 Cataract-hypertrichosis-intellectual disability syndrome Malformation syndrome 2026 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2026 Gingival fibromatosis-hypertrichosis syndrome Malformation syndrome 2218 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2218 Cervical hypertrichosis-peripheral neuropathy syndrome Disease 2220 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2220 Hypertrichosis cubiti Malformation syndrome 2222 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2222 Hypertrichosis lanuginosa congenita Disease 1023 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1023 Congenital generalized hypertrichosis, Ambras type Clinical subtype 79495 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79495 X-linked congenital generalized hypertrichosis Clinical subtype 769 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=769 Rabson-Mendenhall syndrome Malformation syndrome 3387 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3387 Isolated anterior cervical hypertrichosis Disease 2221 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2221 Acquired hypertrichosis lanuginosa Disease 476119 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=476119 Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome Malformation syndrome 694946 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=694946 Alazami-Yuan syndrome Malformation syndrome 598603 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=598603 Facial dysmorphism-hypertrichosis-epilepsy-intellectual disability/developmental delay-gingival overgrowth syndrome Malformation syndrome 79366 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79366 Isolated hair shaft abnormality Category 1410 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1410 Uncombable hair syndrome Disease 2889 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2889 Pili torti Disease 169 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169 Ringed hair disease Disease 170 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=170 Woolly hair Disease 573 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=573 Monilethrix Disease 720 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=720 Pili bifurcati Disease 79414 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79414 Woolly hair nevus Disease 79492 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79492 Pili gemini Disease 79367 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79367 Syndromic hair shaft abnormality Category 123 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=123 Björnstad syndrome Disease 565 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=565 Menkes disease Disease 2891 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2891 Pili torti-developmental delay-neurological abnormalities syndrome Malformation syndrome 3351 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3351 Trichodental syndrome Malformation syndrome 3352 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3352 Tricho-dento-osseous syndrome Malformation syndrome 3361 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3361 Trichodysplasia-xeroderma syndrome Malformation syndrome 33364 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33364 Trichothiodystrophy Disease 434809 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=434809 Syndrome with woolly hair Category 34217 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=34217 Naxos disease Disease 65282 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65282 Carvajal syndrome Disease 293165 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293165 Skin fragility-woolly hair-palmoplantar keratoderma syndrome Disease 420686 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420686 Woolly hair-palmoplantar keratoderma syndrome Disease 411788 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411788 Familial isolated trichomegaly Disease 79368 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79368 Nail anomaly Category 79369 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79369 Isolated nail anomaly Category 2387 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2387 Leukonychia totalis Disease 79143 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79143 Isolated congenital anonychia Disease 90390 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90390 Anonychia-onychodystrophy syndrome Clinical subtype 94150 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94150 Anonychia congenita totalis Clinical subtype 79144 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79144 Isolated congenital onychodysplasia Disease 79153 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79153 Idiopathic trachyonychia Disease 217059 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217059 Isolated nail clubbing Morphological anomaly 280654 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280654 Autosomal recessive nail dysplasia Disease 79370 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79370 Syndromic nail anomaly Category 488232 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488232 Split-foot malformation-mesoaxial polydactyly syndrome Malformation syndrome 2153 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2153 Hirschsprung disease-nail hypoplasia-dysmorphism syndrome Malformation syndrome 2614 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2614 Nail-patella syndrome Malformation syndrome 1487 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1487 Cooks syndrome Malformation syndrome 1811 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1811 Odontomicronychial dysplasia Malformation syndrome 2045 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2045 FLOTCH syndrome Disease 2309 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2309 Pachyonychia congenita Disease 3231 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3231 Deafness-onychodystrophy syndrome Clinical group 79499 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79499 Autosomal dominant deafness-onychodystrophy syndrome Malformation syndrome 79500 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79500 DOORS syndrome Malformation syndrome 662 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662 Lymphedema with yellow nails Disease 69125 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69125 Anonychia with flexural pigmentation Malformation syndrome 210133 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210133 Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome Disease 330029 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=330029 Hypotrichosis-deafness syndrome Disease 420561 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420561 Temple-Baraitser syndrome Disease 2835 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2835 Pectus excavatum-macrocephaly-dysplastic nails syndrome Malformation syndrome 2793 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2793 Otoonychoperoneal syndrome Malformation syndrome 495818 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=495818 9q33.3q34.11 microdeletion syndrome Malformation syndrome 79372 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79372 Sebaceous gland anomaly Category 2750 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2750 Orofaciodigital syndrome type 1 Malformation syndrome 3184 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3184 Steatocystoma multiplex-natal teeth syndrome Malformation syndrome 841 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=841 Sebocystomatosis Disease 79373 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79373 Ectodermal dysplasia syndrome Category 3200 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3200 Arthrogryposis-ectodermal dysplasia syndrome Malformation syndrome 289 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289 Ellis Van Creveld syndrome Malformation syndrome 464 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464 Incontinentia pigmenti Malformation syndrome 235 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=235 Dubowitz syndrome Malformation syndrome 1775 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1775 Dyskeratosis congenita Disease 477 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477 KID syndrome Disease 560 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=560 Marshall syndrome Malformation syndrome 189 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=189 Hidrotic ectodermal dysplasia Disease 1946 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1946 Amelocerebrohypohidrotic syndrome Malformation syndrome 952 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=952 Acrofacial dysostosis, Weyers type Malformation syndrome 1005 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1005 Alopecia-contractures-dwarfism-intellectual disability syndrome Malformation syndrome 1010 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1010 Autosomal dominant palmoplantar keratoderma and congenital alopecia Disease 1028 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1028 Amelo-onycho-hypohidrotic syndrome Malformation syndrome 1071 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1071 Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome Malformation syndrome 1072 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1072 Ankyloblepharon filiforme adnatum-cleft palate syndrome Clinical subtype 1074 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1074 Ankyloblepharon filiforme adnatum-imperforate anus syndrome Clinical subtype 1133 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1133 AREDYLD syndrome Malformation syndrome 1174 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1174 Cerebellar ataxia-ectodermal dysplasia syndrome Malformation syndrome 1234 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1234 Bartsocas-Papas syndrome Malformation syndrome 1262 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1262 Böök syndrome Malformation syndrome 1264 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1264 Tricho-retino-dento-digital syndrome Malformation syndrome 1340 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1340 Cardiofaciocutaneous syndrome Malformation syndrome 1366 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1366 Autosomal recessive palmoplantar keratoderma and congenital alopecia Disease 1375 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1375 Cataract-hypertrichosis-intellectual disability syndrome Malformation syndrome 1433 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1433 Choroidal atrophy-alopecia syndrome Malformation syndrome 1484 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1484 Contractures-ectodermal dysplasia-cleft lip/palate syndrome Malformation syndrome 1515 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1515 Cranioectodermal dysplasia Malformation syndrome 1563 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1563 Dahlberg-Borer-Newcomer syndrome Malformation syndrome 1573 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1573 Hypotrichosis with juvenile macular degeneration Malformation syndrome 1657 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1657 Dermatoosteolysis, Kirghizian type Malformation syndrome 1660 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1660 Dermoodontodysplasia Malformation syndrome 1231 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1231 Barber-Say syndrome Malformation syndrome 2251 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2251 Thumb deformity-alopecia-pigmentation anomaly syndrome Malformation syndrome 1806 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1806 Ectodermal dysplasia-blindness syndrome Malformation syndrome 1808 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1808 Hidrotic ectodermal dysplasia, Christianson-Fourie type Malformation syndrome 1809 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1809 Hidrotic ectodermal dysplasia, Halal type Malformation syndrome 1812 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1812 Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome Malformation syndrome 1882 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1882 Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome Malformation syndrome 1883 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1883 Ectodermal dysplasia-sensorineural deafness syndrome Malformation syndrome 1816 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1816 Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome Malformation syndrome 1818 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1818 Ectodermal dysplasia, trichoodontoonychial type Malformation syndrome 1897 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1897 EEM syndrome Malformation syndrome 1997 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1997 Blepharo-cheilo-odontic syndrome Malformation syndrome 2026 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2026 Gingival fibromatosis-hypertrichosis syndrome Malformation syndrome 2036 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2036 Scalp-ear-nipple syndrome Malformation syndrome 2067 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2067 GAPO syndrome Malformation syndrome 2092 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2092 Focal dermal hypoplasia Malformation syndrome 2108 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2108 Hallermann-Streiff syndrome Malformation syndrome 2220 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2220 Hypertrichosis cubiti Malformation syndrome 2222 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2222 Hypertrichosis lanuginosa congenita Disease 1023 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1023 Congenital generalized hypertrichosis, Ambras type Clinical subtype 79495 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79495 X-linked congenital generalized hypertrichosis Clinical subtype 2228 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2228 Hypodontia-dysplasia of nails syndrome Malformation syndrome 2269 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2269 Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome Disease 2315 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2315 Johanson-Blizzard syndrome Malformation syndrome 2316 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2316 Johnson neuroectodermal syndrome Malformation syndrome 2561 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2561 Pyramidal molars-abnormal upper lip syndrome Malformation syndrome 2710 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2710 Oculodentodigital dysplasia Malformation syndrome 2713 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2713 Oculoosteocutaneous syndrome Malformation syndrome 2718 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2718 Oculotrichodysplasia Malformation syndrome 2721 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2721 Odonto-onycho-dermal dysplasia Disease 2722 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2722 Odonto-onycho dysplasia-alopecia syndrome Malformation syndrome 2723 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2723 Odontotrichomelic syndrome Malformation syndrome 2750 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2750 Orofaciodigital syndrome type 1 Malformation syndrome 678 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=678 Papillon-Lefèvre syndrome Disease 2890 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2890 Pili torti-onychodysplasia syndrome Malformation syndrome 2892 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2892 Pilodental dysplasia-refractive errors syndrome Malformation syndrome 2930 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2930 Cronkhite-Canada syndrome Disease 3194 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3194 Corneodermatoosseous syndrome Malformation syndrome 3220 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3220 Deafness-enamel hypoplasia-nail defects syndrome Malformation syndrome 3231 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3231 Deafness-onychodystrophy syndrome Clinical group 79499 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79499 Autosomal dominant deafness-onychodystrophy syndrome Malformation syndrome 79500 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79500 DOORS syndrome Malformation syndrome 3236 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3236 Conductive deafness-ptosis-skeletal anomalies syndrome Malformation syndrome 3291 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3291 Teebi-Shaltout syndrome Malformation syndrome 3339 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3339 Oculoectodermal syndrome Malformation syndrome 3351 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3351 Trichodental syndrome Malformation syndrome 3352 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3352 Tricho-dento-osseous syndrome Malformation syndrome 3353 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3353 Trichodermodysplasia-dental alterations syndrome Malformation syndrome 3355 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3355 Trichoodontoonychial dysplasia Malformation syndrome 3363 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3363 Trichomegaly-retina pigmentary degeneration-dwarfism syndrome Malformation syndrome 3474 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3474 CHIME syndrome Malformation syndrome 175 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=175 Cartilage-hair hypoplasia Disease 33364 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33364 Trichothiodystrophy Disease 50944 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50944 Schöpf-Schulz-Passarge syndrome Disease 65282 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65282 Carvajal syndrome Disease 69082 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69082 Odonto-tricho-ungual-digito-palmar syndrome Malformation syndrome 69083 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69083 Ectodermal dysplasia with natal teeth, Turnpenny type Malformation syndrome 69084 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69084 Pure hair and nail ectodermal dysplasia Malformation syndrome 69087 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69087 Naegeli-Franceschetti-Jadassohn syndrome Disease 69088 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69088 Hypohidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome Disease 69125 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69125 Anonychia with flexural pigmentation Malformation syndrome 79129 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79129 Trichodysplasia-amelogenesis imperfecta syndrome Malformation syndrome 86920 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86920 Dermatopathia pigmentosa reticularis Disease 98609 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98609 EEC syndrome and related disorders Category 978 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=978 ADULT syndrome Malformation syndrome 1896 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1896 EEC syndrome Malformation syndrome 2363 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2363 Lacrimoauriculodentodigital syndrome Malformation syndrome 69085 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69085 Limb-mammary syndrome Malformation syndrome 99672 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99672 Fried's tooth and nail syndrome Malformation syndrome 99688 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99688 Dermotrichic syndrome Malformation syndrome 140936 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140936 Lelis syndrome Malformation syndrome 158668 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158668 Ectodermal dysplasia-skin fragility syndrome Disease 238468 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238468 Hypohidrotic ectodermal dysplasia Disease 181 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=181 X-linked hypohidrotic ectodermal dysplasia Etiological subtype 248 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=248 Autosomal recessive hypohidrotic ectodermal dysplasia Etiological subtype 1810 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1810 Autosomal dominant hypohidrotic ectodermal dysplasia Etiological subtype 247820 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247820 Ectodermal dysplasia-pili torti-cutaneous syndactyly syndrome Malformation syndrome 247827 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247827 Ectodermal dysplasia-hyperhidrosis-cutaneous syndactyly syndrome Malformation syndrome 307766 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=307766 Curly hair-acral keratoderma-caries syndrome Disease 307936 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=307936 Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome Disease 319195 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319195 Chondroectodermal dysplasia with night blindness Disease 3253 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3253 Cleft lip/palate-ectodermal dysplasia syndrome Malformation syndrome 324764 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324764 Trichorhinophalangeal syndrome Clinical group 502 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=502 Trichorhinophalangeal syndrome type 2 Malformation syndrome 77258 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77258 Trichorhinophalangeal syndrome type 1 Malformation syndrome 398166 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398166 Focal facial dermal dysplasia Malformation syndrome 1807 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1807 Focal facial dermal dysplasia type III Clinical subtype 79133 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79133 Focal facial dermal dysplasia type I Clinical subtype 398173 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398173 Focal facial dermal dysplasia type II Clinical subtype 398189 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398189 Focal facial dermal dysplasia type IV Clinical subtype 423454 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423454 Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome Disease 1401 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1401 CHAND syndrome Malformation syndrome 2109 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2109 Hallermann-Streiff-like syndrome Malformation syndrome 293165 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293165 Skin fragility-woolly hair-palmoplantar keratoderma syndrome Disease 447961 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447961 Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome Disease 2266 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2266 Hypotrichosis-intellectual disability, Lopes type Disease 685067 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=685067 Hypodontia-scalp hypotrichosis-facial dysmorphism syndrome Disease 589608 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589608 Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies Disease 98813 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98813 Hypohidrotic ectodermal dysplasia with immunodeficiency Disease 542657 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=542657 Isolated hyperchlorhidrosis Disease 79374 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79374 Pigmentation anomaly of the skin Category 2435 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2435 Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome Disease 79375 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79375 Hyperpigmentation of the skin Category 508512 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508512 Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome Disease 85453 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85453 X-linked reticulate pigmentary disorder Disease 636 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=636 Neurofibromatosis type 1 Disease 97685 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97685 17q11 microdeletion syndrome Clinical subtype 363700 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion Etiological subtype 2869 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2869 Peutz-Jeghers syndrome Disease 562 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=562 McCune-Albright syndrome Disease 1775 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1775 Dyskeratosis congenita Disease 84 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=84 Fanconi anemia Malformation syndrome 638 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=638 Neurofibromatosis-Noonan syndrome Malformation syndrome 500 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500 Noonan syndrome with multiple lentigines Malformation syndrome 1336 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1336 Hyperkeratosis-hyperpigmentation syndrome Disease 2069 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2069 Gastrocutaneous syndrome Disease 1359 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1359 Carney complex Disease 2678 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2678 Familial isolated café-au-lait macules Malformation syndrome 2779 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2779 Osteopathia striata-pigmentary dermopathy-white forelock syndrome Malformation syndrome 2875 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2875 Phakomatosis pigmentovascularis Disease 79483 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79483 Phakomatosis cesioflammea Clinical subtype 79484 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79484 Phakomatosis cesiomarmorata Clinical subtype 79485 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79485 Phakomatosis spilorosea Clinical subtype 39 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=39 Acromelanosis Disease 41 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=41 Dyschromatosis symmetrica hereditaria Disease 241 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=241 Dyschromatosis universalis hereditaria Disease 33445 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33445 Neuroectodermal melanolysosomal disease Malformation syndrome 69087 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69087 Naegeli-Franceschetti-Jadassohn syndrome Disease 79145 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79145 Dowling-Degos disease Disease 79146 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79146 Familial progressive hyperpigmentation Disease 79150 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79150 Linear and whorled nevoid hypermelanosis Disease 86920 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86920 Dermatopathia pigmentosa reticularis Disease 88630 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88630 Terminal osseous dysplasia-pigmentary defects syndrome Malformation syndrome 93921 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93921 Full schwannomatosis Disease 137605 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137605 Legius syndrome Malformation syndrome 168569 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168569 H syndrome Malformation syndrome 178307 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178307 Reticulate acropigmentation of Kitamura Disease 210133 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210133 Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome Disease 231040 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231040 Familial generalized lentiginosis Disease 319340 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319340 Carney complex-trismus-pseudocamptodactyly syndrome Disease 423454 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423454 Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome Disease 488627 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488627 Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome Malformation syndrome 1964 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1964 Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome Malformation syndrome 634511 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=634511 Mosaic Legius syndrome Disease 79376 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79376 Hypopigmentation of the skin Category 998 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=998 Albinism-deafness syndrome Malformation syndrome 55 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=55 Oculocutaneous albinism Clinical group 79432 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79432 Oculocutaneous albinism type 2 Disease 79433 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79433 Oculocutaneous albinism type 3 Disease 79435 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79435 Oculocutaneous albinism type 4 Disease 352731 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352731 Oculocutaneous albinism type 1 Disease 79431 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79431 Oculocutaneous albinism type 1A Clinical subtype 79434 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79434 Oculocutaneous albinism type 1B Clinical subtype 352734 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352734 Minimal pigment oculocutaneous albinism type 1 Clinical subtype 352737 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352737 Temperature-sensitive oculocutaneous albinism type 1 Clinical subtype 352745 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352745 Oculocutaneous albinism type 7 Disease 370091 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370091 Oculocutaneous albinism type 5 Disease 370097 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370097 Oculocutaneous albinism type 6 Disease 597733 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=597733 Oculocutaneous albinism type 8 Disease 3440 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3440 Waardenburg syndrome Disease 894 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=894 Waardenburg syndrome type 1 Clinical subtype 895 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=895 Waardenburg syndrome type 2 Clinical subtype 896 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=896 Waardenburg syndrome type 3 Clinical subtype 897 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=897 Waardenburg-Shah syndrome Disease 1493 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1493 Vici syndrome Malformation syndrome 2884 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2884 Piebaldism Disease 2885 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2885 Piebald trait-neurologic defects syndrome Malformation syndrome 3214 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3214 Deaf blind hypopigmentation syndrome, Yemenite type Malformation syndrome 42665 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=42665 Tietz syndrome Malformation syndrome 163746 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163746 Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease Disease 284811 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284811 Syndromic oculocutaneous albinism Category 603494 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=603494 Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome Malformation syndrome 167 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=167 Chédiak-Higashi syndrome Disease 381 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=381 Griscelli syndrome Disease 79476 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79476 Griscelli syndrome type 1 Clinical subtype 79477 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79477 Griscelli syndrome type 2 Clinical subtype 79478 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79478 Griscelli syndrome type 3 Clinical subtype 2719 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2719 Oculocerebral hypopigmentation syndrome, Cross type Malformation syndrome 79430 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79430 Hermansky-Pudlak syndrome Disease 183678 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183678 Hermansky-Pudlak syndrome due to AP-3 deficiency Clinical subtype 664500 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664500 Hermansky-Pudlak syndrome due to AP3B1 deficiency Clinical subtype 664511 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664511 Early-onset severe Hermansky-Pudlak syndrome with hearing loss, due to AP3D1 deficiency Clinical subtype 231500 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231500 Hermansky-Pudlak syndrome due to BLOC-3 deficiency Clinical subtype 231512 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231512 Hermansky-Pudlak syndrome due to BLOC-2 deficiency Clinical subtype 231531 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231531 Hermansky-Pudlak syndrome due to BLOC-1 deficiency Clinical subtype 2720 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2720 Oculocerebral hypopigmentation syndrome, Preus type Malformation syndrome 589608 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589608 Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies Disease 280628 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280628 Familial progressive hyper- and hypopigmentation Disease 447961 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447961 Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome Disease 79377 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79377 Dermis disorder Category 79378 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79378 Dermis elastic tissue disorder Category 228215 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228215 Genetic dermis elastic tissue disorder Category 230857 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=230857 Ehlers-Danlos/osteogenesis imperfecta syndrome Disease 3071 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3071 Costello syndrome Malformation syndrome 209 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209 Cutis laxa Clinical group 2078 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2078 Geroderma osteodysplastica Malformation syndrome 2962 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2962 De Barsy syndrome Disease 35664 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35664 ALDH18A1-related De Barsy syndrome Etiological subtype 293633 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293633 PYCR1-related De Barsy syndrome Etiological subtype 3134 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3134 SCARF syndrome Malformation syndrome 3342 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3342 Arterial tortuosity syndrome Malformation syndrome 198 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=198 Occipital horn syndrome Disease 90348 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90348 Autosomal dominant cutis laxa Disease 90349 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90349 Autosomal recessive cutis laxa type 1 Disease 90350 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90350 Autosomal recessive cutis laxa type 2 Clinical group 357058 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357058 Autosomal recessive cutis laxa type 2A Disease 2834 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2834 Wrinkly skin syndrome Clinical subtype 357074 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357074 Autosomal recessive cutis laxa type 2, classic type Clinical subtype 357064 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357064 Autosomal recessive cutis laxa type 2B Disease 217335 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217335 RIN2 syndrome Malformation syndrome 221145 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221145 Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies Malformation syndrome 363705 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363705 Craniofaciofrontodigital syndrome Disease 314718 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314718 Lethal arteriopathy syndrome due to fibulin-4 deficiency Disease 758 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=758 Pseudoxanthoma elasticum Disease 53296 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53296 Familial cutaneous collagenoma Disease 79147 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79147 Familial reactive perforating collagenosis Disease 91135 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91135 Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency Disease 98249 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98249 Ehlers-Danlos syndrome Clinical group 287 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=287 Classical Ehlers-Danlos syndrome Disease 2953 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2953 Musculocontractural Ehlers-Danlos syndrome Disease 285 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=285 Hypermobile Ehlers-Danlos syndrome Disease 286 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=286 Vascular Ehlers-Danlos syndrome Disease 536545 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=536545 Kyphoscoliotic Ehlers-Danlos syndrome Disease 1900 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency Clinical subtype 300179 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300179 Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency Clinical subtype 1899 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1899 Arthrochalasia Ehlers-Danlos syndrome Disease 1901 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1901 Dermatosparaxis Ehlers-Danlos syndrome Disease 75392 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75392 Periodontal Ehlers-Danlos syndrome Disease 536471 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=536471 Spondylodysplastic Ehlers-Danlos syndrome Disease 75496 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75496 B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome Clinical subtype 536467 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome Clinical subtype 157965 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157965 SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome Clinical subtype 75497 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75497 X-linked Ehlers-Danlos syndrome Disease 90354 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90354 Brittle cornea syndrome Disease 536516 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=536516 Myopathic Ehlers-Danlos syndrome Disease 230839 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=230839 Classical-like Ehlers-Danlos syndrome type 1 Disease 230851 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=230851 Cardiac-valvular Ehlers-Danlos syndrome Disease 536532 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=536532 Classical-like Ehlers-Danlos syndrome type 2 Disease 636941 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=636941 Vascular Ehlers-Danlos-polymicrogyria syndrome Disease 228277 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228277 Familial anetoderma Disease 436274 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436274 Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa Disease 1659 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1659 Dermatoleukodystrophy Disease 2295 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2295 Familial articular hypermobility syndrome Disease 228218 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228218 Acquired dermis elastic tissue disorder Category 228221 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228221 Acquired dermis elastic tissue disorder with decreased elastic tissue Category 228264 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228264 Papular elastorrhexis Disease 228272 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228272 Primary anetoderma Disease 228285 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228285 Acquired cutis laxa Disease 228290 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228290 White fibrous papulosis of the neck Disease 228293 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228293 Pseudoxanthoma elasticum-like papillary dermal elastolysis Disease 228299 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228299 Mid-dermal elastolysis Disease 221142 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221142 Confetti-like macular atrophy Disease 228224 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228224 Acquired dermis elastic tissue disorder with increased elastic tissue Category 38 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=38 Acrokeratoelastoidosis of Costa Disease 79148 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79148 Elastosis perforans serpiginosa Disease 228227 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228227 Late-onset focal dermal elastosis Disease 228236 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228236 Linear focal elastosis Disease 228240 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228240 Elastoderma Disease 228243 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228243 Elastofibroma dorsi Disease 228247 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228247 Acquired pseudoxanthoma elasticum Disease 228254 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228254 Elastoma Disease 79379 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79379 Skin vascular disease Category 529864 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=529864 Secondary erythromelalgia Disease 481662 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=481662 Familial Chilblain lupus Disease 324 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324 Fabry disease Disease 100 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100 Ataxia-telangiectasia Disease 774 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=774 Hereditary hemorrhagic telangiectasia Disease 1059 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1059 Blue rubber bleb nevus Malformation syndrome 1556 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1556 Cutis marmorata telangiectatica congenita Malformation syndrome 3205 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3205 Sturge-Weber syndrome Malformation syndrome 624 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=624 Familial multiple nevi flammei Morphological anomaly 53721 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53721 Spinal arteriovenous metameric syndrome Malformation syndrome 60040 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=60040 Megalencephaly-capillary malformation-polymicrogyria syndrome Malformation syndrome 90280 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90280 Chilblain lupus Disease 95429 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95429 Angioma serpiginosum Disease 163634 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163634 Maffucci syndrome Disease 217008 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217008 Segmental venous malformation Malformation syndrome 251347 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251347 Ataxia-telangiectasia-like disorder Disease 280065 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280065 Calciphylaxis cutis Clinical subtype 280774 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280774 Generalized essential telangiectasia Disease 280779 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280779 Cutaneous collagenous vasculopathy Disease 313846 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313846 Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome Disease 90307 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90307 Parkes Weber syndrome Disease 90308 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90308 Capillary-lymphatic-venous malformation with segmental distribution Disease 542643 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=542643 Livedoid vasculopathy Clinical syndrome 656071 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=656071 Atrophic papulosis Disease 656085 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=656085 Benign atrophic papulosis Clinical subtype 679 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=679 Malignant atrophic papulosis Clinical subtype 79380 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79380 Mixed dermis disorder Category 805 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=805 Tuberous sclerosis complex Disease 974 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=974 Adams-Oliver syndrome Malformation syndrome 1003 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1003 Scalp defects-postaxial polydactyly syndrome Malformation syndrome 1116 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1116 Aplasia cutis congenita-intestinal lymphangiectasia syndrome Disease 1117 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1117 Aplasia cutis-myopia syndrome Disease 2036 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2036 Scalp-ear-nipple syndrome Malformation syndrome 2092 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2092 Focal dermal hypoplasia Malformation syndrome 2556 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2556 Microphthalmia with linear skin defects syndrome Malformation syndrome 1114 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1114 Aplasia cutis congenita Malformation syndrome 79381 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79381 Other dermis disorder Category 1764 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1764 Familial dysautonomia Disease 457059 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457059 Pseudohypoparathyroidism with Albright hereditary osteodystrophy Clinical group 79443 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79443 Pseudohypoparathyroidism type 1A Disease 79444 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79444 Pseudohypoparathyroidism type 1C Disease 79445 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79445 Pseudopseudohypoparathyroidism Disease 1555 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1555 Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome Malformation syndrome 2028 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2028 Juvenile hyaline fibromatosis Clinical subtype 2762 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2762 Progressive osseous heteroplasia Malformation syndrome 2796 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2796 Pachydermoperiostosis Malformation syndrome 2987 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2987 Antecubital pterygium syndrome Malformation syndrome 671 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=671 Primary cutis verticis gyrata Clinical group 357220 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357220 Primary essential cutis verticis gyrata Disease 357225 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357225 Primary non-essential cutis verticis gyrata Disease 530 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=530 Lipoid proteinosis Malformation syndrome 79149 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79149 Dermochondrocorneal dystrophy Disease 90340 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90340 Blau syndrome Disease 137807 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137807 Primary cutaneous amyloidosis Clinical group 49804 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=49804 Lichen amyloidosis Disease 137810 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137810 Nodular cutaneous amyloidosis Disease 137814 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137814 Macular amyloidosis Disease 319635 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319635 Amyloidosis cutis dyschromia Disease 353220 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353220 Familial primary localized cutaneous amyloidosis Disease 402007 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=402007 Lichen myxedematosus Clinical group 86795 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86795 Localized lichen myxedematosus Clinical group 90393 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90393 Nodular lichen myxedematosus Disease 90394 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90394 Discrete papular lichen myxedematosus Disease 90395 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90395 Papular mucinosis of infancy Disease 90396 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90396 Acral persistent papular mucinosis Disease 90397 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90397 Self-healing papular mucinosis Disease 86797 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86797 Atypical lichen myxedematosus Disease 90398 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90398 Localized lichen myxedematosus with mixed features of different subtypes Clinical subtype 90399 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90399 Localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms Clinical subtype 90400 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90400 Scleromyxedema without monoclonal gammopathy Clinical subtype 167635 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=167635 Scleromyxedema Disease 542592 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=542592 Necrobiosis lipoidica Disease 468666 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468666 Isolated generalized anhidrosis with normal sweat glands Disease 140933 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140933 Linear atrophoderma of Moulin Disease 658810 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=658810 Atrophoderma of Pasini and Pierini Disease 692256 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=692256 Isolated anogenital granulomatosis Disease 699057 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699057 Annular erythema of infancy Disease 90076 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90076 Partial deep dermal and full thickness burns Particular clinical situation in a disease or syndrome 79382 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79382 Subcutaneous tissue disease Category 333 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=333 Farber disease Disease 337 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=337 Fibrodysplasia ossificans progressiva Disease 909 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=909 Cerebrotendinous xanthomatosis Disease 2398 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2398 Multiple symmetric lipomatosis Disease 2396 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2396 Encephalocraniocutaneous lipomatosis Disease 529 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=529 Roch-Leri mesosomatous lipomatosis Disease 345 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=345 Dissecting cellulitis of the scalp Disease 33577 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33577 Nodular non-suppurative panniculitis Disease 36397 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36397 Adiposis dolorosa Disease 90970 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90970 Primary lipodystrophy Category 98305 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98305 Genetic lipodystrophy Category 528 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=528 Congenital generalized lipodystrophy Disease 696289 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=696289 Congenital generalized lipodystrophy type 2 Clinical subtype 696242 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=696242 PPARG-associated congenital generalized lipodystrophy Clinical subtype 696206 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=696206 Congenital generalized lipodystrophy type 3 Clinical subtype 696189 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=696189 Congenital generalized lipodystrophy type 1 Clinical subtype 228429 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228429 Congenital generalized lipodystrophy type 4 Clinical subtype 1979 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1979 Lipodystrophy due to peptidic growth factors deficiency Disease 2457 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2457 Mandibuloacral dysplasia Malformation syndrome 90153 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90153 Mandibuloacral dysplasia with type A lipodystrophy Clinical subtype 90154 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90154 Mandibuloacral dysplasia with type B lipodystrophy Clinical subtype 3163 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3163 SHORT syndrome Malformation syndrome 3455 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3455 Wiedemann-Rautenstrauch syndrome Malformation syndrome 50811 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50811 Lipodystrophy-intellectual disability-deafness syndrome Disease 98306 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98306 Familial partial lipodystrophy Clinical group 2348 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2348 Familial partial lipodystrophy, Dunnigan type Disease 79083 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79083 PPARG-related familial partial lipodystrophy Disease 79084 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79084 Familial partial lipodystrophy, Köbberling type Disease 79085 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79085 AKT2-related familial partial lipodystrophy Disease 280356 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280356 PLIN1-related familial partial lipodystrophy Disease 280365 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280365 Autosomal semi-dominant severe lipodystrophic laminopathy Disease 435651 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435651 CIDEC-related familial partial lipodystrophy Disease 435660 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435660 LIPE-related familial partial lipodystrophy Disease 363400 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363400 Progressive encephalopathy-severe neurodegeneration-lipodystrophy syndrome Disease 435628 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435628 Keppen-Lubinsky syndrome Malformation syndrome 686999 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=686999 Lipodystrophy-demyelinating peripheral sensory-motor neuropathy syndrome Disease 363649 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363649 Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome Disease 324977 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324977 Proteasome-associated autoinflammatory syndrome Disease 280576 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280576 Nestor-Guillermo progeria syndrome Malformation syndrome 98307 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98307 Acquired lipodystrophy Category 79086 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79086 Acquired generalized lipodystrophy Disease 79087 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79087 Acquired partial lipodystrophy Disease 79088 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79088 Localized lipodystrophy Clinical group 90156 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90156 Centrifugal lipodystrophy Disease 90157 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90157 Drug-induced localized lipodystrophy Disease 90158 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90158 Idiopathic localized lipodystrophy Disease 90159 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90159 Panniculitis-induced localized lipodystrophy Disease 90160 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90160 Pressure-induced localized lipoatrophy Disease 94087 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94087 Cytophagic histiocytic panniculitis Disease 140944 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140944 CLOVES syndrome Malformation syndrome 199276 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199276 Familial multiple lipomatosis Disease 199279 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199279 Familial angiolipomatosis Disease 468666 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468666 Isolated generalized anhidrosis with normal sweat glands Disease 477742 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477742 Nodular fasciitis Disease 404454 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404454 Alacrimia-choreoathetosis-liver dysfunction syndrome Disease 77240 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77240 Primary lymphedema Category 568041 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=568041 Primary lymphedema without systemic or visceral involvement Category 2416 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2416 Congenital primary lymphedema without systemic or visceral involvement Clinical group 295000 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295000 Amniotic band syndrome Malformation syndrome 2526 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2526 Microcephaly-lymphedema-chorioretinopathy syndrome Malformation syndrome 569821 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=569821 Congenital primary lymphedema of Gordon Disease 79452 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79452 Milroy disease Disease 2077 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2077 German syndrome Malformation syndrome 289825 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289825 Late-onset primary lymphedema without systemic or visceral involvement Clinical group 568051 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=568051 GJC2-related late-onset primary lymphedema Disease 569816 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=569816 CELSR1-related late-onset primary lymphedema Disease 1414 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1414 Cholestasis-lymphedema syndrome Disease 33001 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33001 Lymphedema-distichiasis syndrome Malformation syndrome 90186 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90186 Meige disease Disease 99141 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99141 Lymphedema-posterior choanal atresia syndrome Malformation syndrome 568044 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=568044 Primary lymphedema with systemic or visceral involvement Category 1563 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1563 Dahlberg-Borer-Newcomer syndrome Malformation syndrome 568062 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=568062 PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis Disease 568056 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=568056 Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome Disease 568065 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=568065 EPHB4-related lymphatic-related hydrops fetalis Disease 1116 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1116 Aplasia cutis congenita-intestinal lymphangiectasia syndrome Disease 2136 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2136 Hennekam syndrome Malformation syndrome 662 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662 Lymphedema with yellow nails Disease 69735 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69735 Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome Disease 86915 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86915 Lymphedema-atrial septal defects-facial changes syndrome Malformation syndrome 568047 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=568047 Disorder with multisystemic involvement and primary lymphedema Category 69088 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69088 Hypohidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome Disease 2836 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2836 PEHO syndrome Disease 1655 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1655 Müllerian derivatives-lymphangiectasia-polydactyly syndrome Malformation syndrome 487796 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=487796 Takenouchi-Kosaki syndrome Malformation syndrome 48652 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48652 Phelan-McDermid syndrome Malformation syndrome 662172 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662172 Phelan-McDermid syndrome due to SHANK3 mutation Etiological subtype 662169 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662169 Phelan-McDermid syndrome due to 22q13.3 deletion Etiological subtype 324 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324 Fabry disease Disease 648 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=648 Noonan syndrome Malformation syndrome 99807 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99807 PEHO-like syndrome Disease 805 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=805 Tuberous sclerosis complex Disease 881 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=881 Turner syndrome Malformation syndrome 99413 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99413 Turner syndrome due to structural X chromosome anomalies Etiological subtype 99228 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99228 Mosaic monosomy X syndrome Etiological subtype 99226 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99226 Monosomy X syndrome Etiological subtype 1340 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1340 Cardiofaciocutaneous syndrome Malformation syndrome 2710 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2710 Oculodentodigital dysplasia Malformation syndrome 742 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=742 Prolidase deficiency Disease 79384 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79384 Rare urticaria Category 2483 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2483 Melkersson-Rosenthal syndrome Malformation syndrome 64745 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64745 Pruritic urticarial papules and plaques of pregnancy Disease 493342 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=493342 Vibratory urticaria Disease 79385 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79385 Unclassified genetic skin disorder Category 1954 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1954 Congenital lethal erythroderma Disease 2505 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2505 Multiple benign circumferential skin creases on limbs Disease 2812 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2812 Parana hard skin syndrome Disease 2833 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2833 Stiff skin syndrome Disease 83628 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83628 LUMBAR syndrome Malformation syndrome 231031 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231031 Erythema palmare hereditarium Disease 79386 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79386 Rare skin tumor or hamartoma Category 636 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=636 Neurofibromatosis type 1 Disease 97685 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97685 17q11 microdeletion syndrome Clinical subtype 363700 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion Etiological subtype 377 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=377 Gorlin syndrome Malformation syndrome 805 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=805 Tuberous sclerosis complex Disease 638 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=638 Neurofibromatosis-Noonan syndrome Malformation syndrome 113 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=113 Bazex-Dupré-Christol syndrome Disease 3110 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3110 Rombo syndrome Disease 542 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=542 Primary cutaneous lymphoma Category 171901 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171901 Primary cutaneous T-cell lymphoma Category 178548 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178548 Indolent primary cutaneous T-cell lymphoma Clinical group 541 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=541 Primary cutaneous CD30+ T-cell lymphoproliferative disease Clinical group 98842 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98842 Lymphomatoid papulosis Disease 300865 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300865 Primary cutaneous anaplastic large cell lymphoma Disease 86884 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86884 Subcutaneous panniculitis-like T-cell lymphoma Disease 178522 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178522 Primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma Disease 178566 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178566 Mycosis fungoides and variants Clinical group 2584 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2584 Classic mycosis fungoides Disease 33111 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33111 Granulomatous slack skin Disease 178512 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178512 Folliculotropic mycosis fungoides Disease 178517 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178517 Localized pagetoid reticulosis Disease 178551 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178551 Aggressive primary cutaneous T-cell lymphoma Clinical group 3162 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3162 Sézary syndrome Disease 86875 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86875 Adult T-cell leukemia/lymphoma Disease 86879 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86879 Extranodal nasal NK/T cell lymphoma Disease 86885 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86885 Primary cutaneous peripheral T-cell lymphoma not otherwise specified Disease 178528 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178528 Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma Disease 178533 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178533 Primary cutaneous gamma/delta-positive T-cell lymphoma Disease 178563 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178563 Primary cutaneous B-cell lymphoma Category 178554 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178554 Aggressive primary cutaneous B-cell lymphoma Clinical group 178544 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178544 Primary cutaneous diffuse large B-cell lymphoma, leg type Disease 178557 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178557 Indolent primary cutaneous B-cell lymphoma Clinical group 178536 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178536 Primary cutaneous marginal zone B-cell lymphoma Disease 178540 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178540 Primary cutaneous follicle center lymphoma Disease 2591 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2591 Infantile myofibromatosis Disease 618 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=618 Familial melanoma Disease 492 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=492 Proliferating trichilemmal cyst Disease 840 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=840 Syringocystadenoma papilliferum Disease 864 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=864 Trichofolliculoma Disease 122 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=122 Birt-Hogg-Dubé syndrome Malformation syndrome 493 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=493 Familial keratoacanthoma Disease 523 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=523 Hereditary leiomyomatosis and renal cell cancer Disease 31112 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31112 Dermatofibrosarcoma protuberans Disease 2800 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2800 Extramammary Paget disease Disease 53715 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53715 Familial tumoral calcinosis Disease 306658 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306658 Familial normophosphatemic tumoral calcinosis Clinical subtype 306661 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306661 Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome Clinical subtype 65748 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65748 Multiple self-healing squamous epithelioma Disease 79140 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79140 Cutaneous neuroendocrine carcinoma Disease 79493 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79493 Brooke-Spiegler syndrome Disease 211 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=211 Familial cylindromatosis Clinical subtype 867 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=867 Familial multiple trichoepithelioma Clinical subtype 91414 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91414 Pilomatrixoma Disease 168632 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168632 Generalized basaloid follicular hamartoma syndrome Disease 168999 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168999 Malignant melanoma of the mucosa Disease 199257 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199257 Superficial fibromatosis Clinical group 199251 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199251 Ledderhose disease Disease 199260 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199260 Calcifying aponeurotic fibroma Disease 199267 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199267 Infantile digital fibromatosis Disease 263435 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263435 Congenital smooth muscle hamartoma Disease 276280 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276280 Hemihyperplasia-multiple lipomatosis syndrome Malformation syndrome 294057 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294057 Rare nevus Category 201 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=201 Cowden syndrome Clinical subtype 626 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=626 Large/giant congenital melanocytic nevus Disease 497757 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=497757 MME-related autosomal dominant Charcot Marie Tooth disease type 2 Disease 2612 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2612 Linear nevus sebaceus syndrome Disease 744 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=744 Proteus syndrome Malformation syndrome 139 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139 CHILD syndrome Disease 2481 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2481 Neurocutaneous melanocytosis Disease 2874 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2874 Phakomatosis pigmentokeratotica Malformation syndrome 2969 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2969 Proteus-like syndrome Clinical subtype 2611 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2611 Linear verrucous nevus syndrome Disease 79466 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79466 Inflammatory linear verrucous epidermal nevus Clinical subtype 79467 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79467 Verrucous nevus Clinical subtype 79468 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79468 Acanthokeratolytic verrucous nevus Clinical subtype 35125 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35125 Epidermal nevus syndrome Disease 64754 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64754 Nevus comedonicus syndrome Disease 64755 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64755 Becker nevus syndrome Disease 137608 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137608 Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome Clinical subtype 139414 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139414 Congenital panfollicular nevus Disease 140944 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140944 CLOVES syndrome Malformation syndrome 166286 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166286 Porokeratotic eccrine ostial and dermal duct nevus Disease 171723 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171723 White sponge nevus Disease 263425 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263425 Nevus of Ota Disease 263432 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263432 Nevus of Ito Disease 313936 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313936 PENS syndrome Disease 370039 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370039 Angora hair nevus Disease 370046 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370046 Didymosis aplasticosebacea Disease 370052 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370052 SCALP syndrome Disease 370059 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370059 NEVADA syndrome Disease 497737 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=497737 Epidermolytic nevus Disease 300515 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300515 Rare nail tumor Category 300504 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300504 Onychocytic matricoma Disease 300512 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300512 Onychomatricoma Disease 306498 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306498 PTEN hamartoma tumor syndrome Disease 201 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=201 Cowden syndrome Clinical subtype 65285 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65285 Lhermitte-Duclos disease Clinical subtype 109 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=109 Bannayan-Riley-Ruvalcaba syndrome Clinical subtype 2969 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2969 Proteus-like syndrome Clinical subtype 137608 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137608 Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome Clinical subtype 404560 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404560 Familial atypical multiple mole melanoma syndrome Disease 411777 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411777 Generalized eruptive keratoacanthoma Disease 499182 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=499182 Pilomatrix carcinoma Disease 538756 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=538756 Familial multiple discoid fibromas Disease 569164 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=569164 Angiomatoid fibrous histiocytoma Disease 673568 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=673568 Eccrine angiomatous hamartoma Disease 673525 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=673525 Intravascular papillary endothelial hyperplasia Disease 79387 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79387 Metabolic disease with skin involvement Category 738 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=738 Porphyria Clinical group 659681 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659681 Erythropoietic porphyria Clinical group 79277 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79277 Congenital erythropoietic porphyria Disease 79278 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79278 Autosomal erythropoietic protoporphyria Disease 443197 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443197 X-linked erythropoietic protoporphyria Disease 280379 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280379 Erythropoietic uroporphyria associated with myeloid malignancy Disease 95159 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95159 Hepatoerythropoietic porphyria Disease 659672 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659672 Harderoporphyria Disease 659694 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659694 Hepatic porphyria Clinical group 95157 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95157 Acute hepatic porphyria Clinical group 79273 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79273 Hereditary coproporphyria Disease 79276 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79276 Acute intermittent porphyria Disease 79473 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79473 Variegate porphyria Disease 100924 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100924 Porphyria due to ALA dehydratase deficiency Disease 659698 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659698 Hepatic cutaneous porphyria Clinical group 101330 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101330 Porphyria cutanea tarda Disease 443057 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443057 Sporadic porphyria cutanea tarda Clinical subtype 443062 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443062 Familial porphyria cutanea tarda Clinical subtype 742 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=742 Prolidase deficiency Disease 79217 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79217 Other metabolic disease with skin involvement Category 56 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=56 Alkaptonuria Disease 148 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=148 Multiple carboxylase deficiency Clinical group 37 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=37 Acrodermatitis enteropathica Disease 79388 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79388 Mucopolysaccharidosis with skin involvement Category 580 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=580 Mucopolysaccharidosis type 2 Disease 217085 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217085 Mucopolysaccharidosis type 2, severe form Clinical subtype 217093 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217093 Mucopolysaccharidosis type 2, attenuated form Clinical subtype 371200 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=371200 Congenital disorder of glycosylation with skin involvement Category 2953 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2953 Musculocontractural Ehlers-Danlos syndrome Disease 3474 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3474 CHIME syndrome Malformation syndrome 79145 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79145 Dowling-Degos disease Disease 79318 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79318 PMM2-CDG Disease 79323 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79323 MPDU1-CDG Disease 79333 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79333 COG7-CDG Disease 91131 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91131 DK1-CDG Disease 692790 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=692790 ATP6AP1-CDG Disease 306661 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306661 Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome Clinical subtype 324737 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324737 SRD5A3-CDG Disease 357058 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357058 Autosomal recessive cutis laxa type 2A Disease 2834 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2834 Wrinkly skin syndrome Clinical subtype 357074 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357074 Autosomal recessive cutis laxa type 2, classic type Clinical subtype 370933 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370933 GM3 synthase deficiency Disease 251523 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251523 Hyperzincemia and hypercalprotectinemia Disease 79389 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79389 Premature aging Category 2109 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2109 Hallermann-Streiff-like syndrome Malformation syndrome 191 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=191 Cockayne syndrome Disease 1466 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1466 COFS syndrome Clinical subtype 90321 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90321 Cockayne syndrome type 1 Clinical subtype 90322 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90322 Cockayne syndrome type 2 Clinical subtype 90324 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90324 Cockayne syndrome type 3 Clinical subtype 902 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=902 Werner syndrome Disease 2047 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2047 Flynn-Aird syndrome Disease 2108 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2108 Hallermann-Streiff syndrome Malformation syndrome 2500 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2500 Acrogeria Malformation syndrome 740 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=740 Hutchinson-Gilford progeria syndrome Disease 2959 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2959 Progeria-short stature-pigmented nevi syndrome Malformation syndrome 2962 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2962 De Barsy syndrome Disease 35664 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35664 ALDH18A1-related De Barsy syndrome Etiological subtype 293633 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293633 PYCR1-related De Barsy syndrome Etiological subtype 3455 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3455 Wiedemann-Rautenstrauch syndrome Malformation syndrome 697101 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=697101 Fontaine progeroid syndrome Disease 2963 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2963 Progeroid syndrome, Petty type Clinical subtype 2095 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2095 Gorlin-Chaudhry-Moss syndrome Clinical subtype 220295 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220295 Xeroderma pigmentosum-Cockayne syndrome complex Disease 280576 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280576 Nestor-Guillermo progeria syndrome Malformation syndrome 363618 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363618 LMNA-related cardiocutaneous progeria syndrome Disease 363649 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363649 Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome Disease 363665 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363665 Acroosteolysis-keloid-like lesions-premature aging syndrome Disease 438134 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438134 PCNA-related progressive neurodegenerative photosensitivity syndrome Disease 79390 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79390 Rare photodermatosis Category 97230 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97230 Solar urticaria Disease 178338 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178338 UV-sensitive syndrome Disease 220295 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220295 Xeroderma pigmentosum-Cockayne syndrome complex Disease 330058 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=330058 Hydroa vacciniforme Disease 330061 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=330061 Actinic prurigo Disease 330064 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=330064 Chronic actinic dermatitis Disease 90342 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90342 Xeroderma pigmentosum variant Disease 125 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=125 Bloom syndrome Disease 2116 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2116 Hartnup disease Disease 738 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=738 Porphyria Clinical group 659681 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659681 Erythropoietic porphyria Clinical group 79277 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79277 Congenital erythropoietic porphyria Disease 79278 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79278 Autosomal erythropoietic protoporphyria Disease 443197 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443197 X-linked erythropoietic protoporphyria Disease 280379 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280379 Erythropoietic uroporphyria associated with myeloid malignancy Disease 95159 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95159 Hepatoerythropoietic porphyria Disease 659672 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659672 Harderoporphyria Disease 659694 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659694 Hepatic porphyria Clinical group 95157 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95157 Acute hepatic porphyria Clinical group 79273 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79273 Hereditary coproporphyria Disease 79276 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79276 Acute intermittent porphyria Disease 79473 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79473 Variegate porphyria Disease 100924 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100924 Porphyria due to ALA dehydratase deficiency Disease 659698 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659698 Hepatic cutaneous porphyria Clinical group 101330 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101330 Porphyria cutanea tarda Disease 443057 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443057 Sporadic porphyria cutanea tarda Clinical subtype 443062 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443062 Familial porphyria cutanea tarda Clinical subtype 2909 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2909 Rothmund-Thomson syndrome Disease 221008 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221008 Rothmund-Thomson syndrome type 1 Clinical subtype 221016 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221016 Rothmund-Thomson syndrome type 2 Clinical subtype 910 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=910 Xeroderma pigmentosum Disease 2908 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2908 Kindler epidermolysis bullosa Disease 79391 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79391 Immune deficiency with skin involvement Category 619972 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=619972 CADINS disease Disease 641368 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=641368 Autosomal recessive hyper-IgE syndrome due to ZNF341 deficiency Disease 656912 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=656912 Autosomal dominant combined immunodeficiency due to ERBIN deficiency Disease 656300 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=656300 Autosomal recessive combined immunodeficiency due to partial IL6ST deficiency Disease 656326 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=656326 Autosomal recessive combined immunodeficiency due to IL6R deficiency Disease 693627 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=693627 Agammaglobulinemia-skin involvement-failure to thrive syndrome Disease 658946 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=658946 Early-onset immune dysregulation with autoimmunity due to DOCK11 partial deficiency Disease 300359 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300359 PLCG2-associated antibody deficiency and immune dysregulation Disease 596759 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=596759 Combined immunodeficiency due to RELA haploinsufficiency Disease 568056 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=568056 Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome Disease 906 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=906 Wiskott-Aldrich syndrome Disease 379 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=379 Chronic granulomatous disease Disease 167 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=167 Chédiak-Higashi syndrome Disease 1334 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1334 Chronic mucocutaneous candidiasis Disease 2314 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2314 Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency Disease 1839 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1839 Hereditary mucoepithelial dysplasia Malformation syndrome 302 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=302 Inherited epidermodysplasia verruciformis Disease 314 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314 Erythroderma desquamativum Disease 79477 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79477 Griscelli syndrome type 2 Clinical subtype 83617 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83617 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome Malformation syndrome 157949 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157949 Combined immunodeficiency with granulomatosis Disease 51636 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=51636 WHIM syndrome Disease 90077 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90077 Other acquired skin disease Category 94059 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94059 Uremic pruritus Particular clinical situation in a disease or syndrome 1221 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1221 Cheilitis glandularis Disease 820 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=820 Sneddon syndrome Disease 222 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=222 Erosive pustular dermatosis of the scalp Disease 499 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=499 Kerion celsi Disease 901 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=901 Wells syndrome Disease 33314 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33314 Jessner lymphocytic infiltration of the skin Disease 36237 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36237 Bullous impetigo Disease 37559 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=37559 Acquired kinky hair syndrome Disease 48377 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48377 Subcorneal pustular dermatosis Disease 79099 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79099 Interstitial granulomatous dermatitis with arthritis Disease 97352 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97352 Pellagra Disease 137617 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137617 Nephrogenic systemic fibrosis Disease 166113 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166113 Bazex syndrome Disease 228379 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228379 Virus-associated trichodysplasia spinulosa Disease 289347 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289347 Infective dermatitis associated with HTLV-1 Disease 352763 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352763 Scleredema Disease 3165 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3165 Eosinophilic fasciitis Disease 645849 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645849 Primary cutaneous tuberculosis Disease 664787 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664787 Nicolau syndrome Clinical syndrome 664901 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664901 Trigeminal trophic syndrome Disease 615943 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=615943 Granuloma faciale Disease 617408 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=617408 Classic eosinophilic pustular folliculitis Disease 451602 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=451602 Primary cutaneous plasmacytosis Disease 451607 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=451607 Cutaneous pseudolymphoma Disease 66646 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66646 Cutaneous mastocytosis Clinical group 79455 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79455 Cutaneous mastocytoma Disease 79456 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79456 Diffuse cutaneous mastocytosis Disease 280785 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280785 Bullous diffuse cutaneous mastocytosis Clinical subtype 280794 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280794 Pseudoxanthomatous diffuse cutaneous mastocytosis Clinical subtype 79457 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79457 Maculopapular cutaneous mastocytosis Disease 90389 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90389 Telangiectasia macularis eruptiva perstans Clinical subtype 158766 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158766 Typical urticaria pigmentosa Clinical subtype 158769 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158769 Plaque-form urticaria pigmentosa Clinical subtype 158772 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158772 Nodular urticaria pigmentosa Clinical subtype 90000 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90000 Erythema elevatum diutinum Disease 290836 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=290836 Systemic disease with skin involvement Category 801 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=801 Scleroderma Clinical group 90289 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90289 Localized scleroderma Disease 90291 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90291 Systemic sclerosis Disease 220393 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220393 Diffuse cutaneous systemic sclerosis Clinical subtype 220402 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220402 Limited cutaneous systemic sclerosis Clinical subtype 220407 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220407 Limited systemic sclerosis Clinical subtype 221 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221 Dermatomyositis Disease 645617 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645617 Amyopathic dermatomyositis Clinical subtype 645626 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645626 Adermatopathic dermatomyositis Clinical subtype 645613 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645613 Classical dermatomyositis Clinical subtype 779 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=779 Reynolds syndrome Disease 93672 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93672 Juvenile dermatomyositis Disease 157987 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157987 Non-Langerhans cell histiocytosis Clinical group 158014 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158014 Rosaï-Dorfman disease Disease 35687 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35687 Erdheim-Chester disease Disease 139436 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139436 Multicentric reticulohistiocytosis Disease 157991 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157991 Generalized eruptive histiocytosis Disease 157997 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157997 Benign cephalic histiocytosis Disease 158000 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158000 Juvenile xanthogranuloma Disease 158003 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158003 Xanthoma disseminatum Disease 158008 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158008 Papular xanthoma Disease 158011 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158011 Necrobiotic xanthogranuloma Disease 158019 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158019 Indeterminate cell histiocytosis Disease 158022 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158022 Progressive nodular histiocytosis Disease 158025 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158025 Hereditary progressive mucinous histiocytosis Disease 231111 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231111 Drug-induced lupus erythematosus Disease 290842 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=290842 Autoinflammatory syndrome with skin involvement Category 251523 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251523 Hyperzincemia and hypercalprotectinemia Disease 653434 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=653434 Autoinflammatory syndrome with acne and/or hidradenitis suppurativa Clinical group 641380 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=641380 PAPASH syndrome Disease 69126 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69126 PAPA syndrome Disease 289478 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289478 PASH syndrome Disease 641385 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=641385 PASS syndrome Disease 641390 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=641390 PsAPASH syndrome Disease 793 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=793 SAPHO syndrome Disease 674762 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=674762 Early-onset autoinflammatory syndrome due to A20 haploinsufficiency Disease 3243 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3243 Sweet syndrome Disease 117 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=117 Behçet disease Disease 32960 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=32960 Tumor necrosis factor receptor 1 associated periodic syndrome Disease 48104 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48104 Pyoderma gangrenosum Disease 538863 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=538863 Classic pyoderma gangrenosum Clinical subtype 538866 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=538866 Pustular pyoderma gangrenosum Clinical subtype 538869 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=538869 Bullous pyoderma gangrenosum Clinical subtype 538872 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=538872 Vegetative pyoderma gangrenosum Clinical subtype 77297 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77297 Majeed syndrome Disease 90340 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90340 Blau syndrome Disease 208650 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=208650 NLRP3-associated autoinflammatory disease Clinical group 575 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=575 Muckle-Wells syndrome Disease 1451 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1451 CINCA syndrome Disease 47045 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=47045 Familial cold urticaria Disease 647815 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=647815 Keratitis fugax hereditaria Disease 210115 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210115 Sterile multifocal osteomyelitis with periostitis and pustulosis Disease 247868 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247868 NLRP12-associated hereditary periodic fever syndrome Disease 251304 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251304 Infantile onset panniculitis with uveitis and systemic granulomatosis Disease 309025 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309025 Mevalonate kinase deficiency Disease 29 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=29 Mevalonic aciduria Clinical subtype 343 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=343 Hyperimmunoglobulinemia D with periodic fever Clinical subtype 324964 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324964 Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis Disease 324977 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324977 Proteasome-associated autoinflammatory syndrome Disease 404546 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404546 DITRA Disease 425120 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=425120 STING-associated vasculopathy with onset in infancy Disease 294023 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294023 Neonatal erythroderma-autoinflammation-inflammatory bowel disease syndrome Disease 576349 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=576349 NLRC4-related familial cold autoinflammatory syndrome Disease 436166 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436166 Periodic fever-infantile enterocolitis-autoinflammatory syndrome Disease 619367 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=619367 SAMD9L-associated autoinflammatory syndrome Disease 619363 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=619363 NOCARH syndrome Disease 596753 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=596753 VEXAS syndrome Disease 617919 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=617919 F12-associated cold autoinflammatory syndrome Disease 293815 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293815 Toxic dermatosis Category 502499 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=502499 Erythema multiforme major Disease 95455 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum Disease 537 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=537 Toxic epidermal necrolysis Clinical subtype 36426 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36426 Stevens-Johnson syndrome Clinical subtype 506784 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506784 Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome Clinical subtype 139402 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139402 Drug reaction with eosinophilia and systemic symptoms Disease 293173 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293173 Acute generalized exanthematous pustulosis Disease 293812 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293812 Fixed drug eruption Disease 315350 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=315350 Autoimmune disease with skin involvement Category 535 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=535 Rare cutaneous lupus erythematosus Clinical group 163525 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163525 Subacute cutaneous lupus erythematosus Disease 163531 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163531 Chronic cutaneous lupus erythematosus Clinical group 481662 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=481662 Familial Chilblain lupus Disease 90280 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90280 Chilblain lupus Disease 90281 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90281 Discoid lupus erythematosus Disease 90282 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90282 Hypertrophic or verrucous lupus erythematosus Disease 90283 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90283 Lupus erythematosus tumidus Disease 90285 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90285 Lupus erythematosus panniculitis Disease 79669 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79669 Autoimmune bullous skin disease Clinical group 704 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=704 Pemphigus vulgaris Disease 1656 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1656 Dermatitis herpetiformis Disease 703 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=703 Bullous pemphigoid Disease 46485 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=46485 Superficial pemphigus Clinical group 636955 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=636955 Endemic pemphigus foliaceus Disease 79480 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79480 Pemphigus erythematosus Disease 79481 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79481 Pemphigus foliaceus Disease 208524 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=208524 Herpetiform pemphigus Disease 46486 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=46486 Mucous membrane pemphigoid Disease 46487 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=46487 Epidermolysis bullosa acquisita Disease 46488 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=46488 Linear IgA dermatosis Disease 63275 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63275 Pemphigoid gestationis Disease 63455 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63455 Paraneoplastic pemphigus Disease 555905 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=555905 IgA pemphigus Disease 454710 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=454710 Anti-p200 pemphigoid Disease 79479 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79479 Pemphigus vegetans Disease 324636 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324636 Autoerythrocyte sensitization syndrome Disease 658584 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=658584 Rowell syndrome Disease