Knowledge on rare diseases and orphan drugs
COVID-19 & Rare diseases
Rare Diseases Resources for Refugees/Displaced Persons
Homepage > Rare diseases > Classifications
Search for a classification
Return to classification browser
- Rare skin disease ORPHA:89826
- Epidermal disease ORPHA:79353
- Ichthyosis ORPHA:79354
- Acquired ichthyosis ORPHA:454
- Inherited ichthyosis ORPHA:183435
- Inherited non-syndromic ichthyosis ORPHA:281082
- Recessive X-linked ichthyosis ORPHA:461
- Erythrokeratodermia variabilis ORPHA:317
- Peeling skin syndrome ORPHA:817
- Keratoderma hereditarium mutilans with ichthyosis ORPHA:79395
- Autosomal recessive congenital ichthyosis ORPHA:281097
- Lamellar ichthyosis ORPHA:313
- Harlequin ichthyosis ORPHA:457
- Congenital ichthyosiform erythroderma ORPHA:79394
- Bathing suit ichthyosis ORPHA:100976
- Self-improving collodion baby ORPHA:281122
- Acral self-healing collodion baby ORPHA:281127
- Exfoliative ichthyosis ORPHA:289586
- Keratinopathic ichthyosis ORPHA:281103
- Congenital reticular ichthyosiform erythroderma ORPHA:281190
- Autosomal dominant epidermolytic ichthyosis ORPHA:312
- Superficial epidermolytic ichthyosis ORPHA:455
- Ichthyosis hystrix of Curth-Macklin ORPHA:79503
- Annular epidermolytic ichthyosis ORPHA:281139
- Autosomal recessive epidermolytic ichthyosis ORPHA:512103
- Epidermolytic nevus ORPHA:497737
- Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome ORPHA:281201
- Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome ORPHA:444138
- Inherited ichthyosis syndromic form ORPHA:281085
- X-linked ichthyosis syndrome ORPHA:281210
- CHILD syndrome ORPHA:139
- Ichthyosis follicularis-alopecia-photophobia syndrome ORPHA:2273
- X-linked dominant chondrodysplasia punctata ORPHA:35173
- Syndromic recessive X-linked ichthyosis ORPHA:281090
- Autosomal ichthyosis syndrome ORPHA:281217
- Autosomal ichthyosis syndrome with prominent hair abnormalities ORPHA:281222
- Netherton syndrome ORPHA:634
- Neonatal ichthyosis-sclerosing cholangitis syndrome ORPHA:59303
- Ichthyosis-hypotrichosis syndrome ORPHA:91132
- Trichothiodystrophy ORPHA:33364
- Autosomal ichthyosis syndrome with prominent neurologic signs ORPHA:281238
- Refsum disease ORPHA:773
- Sjögren-Larsson syndrome ORPHA:816
- Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome ORPHA:2269
- Congenital ichthyosis-microcephalus-tetraplegia syndrome ORPHA:2271
- Neu-Laxova syndrome ORPHA:2671
- Neu-Laxova syndrome due to 3-phosphoserine phosphatase deficiency ORPHA:583612
- Neu-Laxova syndrome due to phosphoserine aminotransferase deficiency ORPHA:583602
- Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency ORPHA:583607
- MEDNIK syndrome ORPHA:171851
- Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome ORPHA:352333
- Autosomal ichthyosis syndrome with fatal disease course ORPHA:281241
- Multiple sulfatase deficiency ORPHA:585
- Arthrogryposis-renal dysfunction-cholestasis syndrome ORPHA:2697
- CEDNIK syndrome ORPHA:66631
- Fetal Gaucher disease ORPHA:85212
- Neu-Laxova syndrome ORPHA:2671
- Autosomal ichthyosis syndrome with other associated signs ORPHA:281244
- KID syndrome ORPHA:477
- Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome ORPHA:3151
- Ichthyosis-oral and digital anomalies syndrome ORPHA:2272
- Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome ORPHA:2274
- Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome ORPHA:2278
- Osteosclerosis-ichthyosis-premature ovarian failure syndrome ORPHA:75325
- X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome ORPHA:3055
- Ichthyosis-prematurity syndrome ORPHA:88621
- DK1-CDG ORPHA:91131
- Neutral lipid storage disease with ichthyosis ORPHA:98907
- Ichthyosis-short stature-brachydactyly-microspherophakia syndrome ORPHA:363992
- Alacrimia-choreoathetosis-liver dysfunction syndrome ORPHA:404454
- Erythrokeratoderma ORPHA:79355
- Pityriasis rubra pilaris ORPHA:2897
- Spinocerebellar ataxia type 34 ORPHA:1955
- Erythrokeratoderma ''en cocardes'' ORPHA:315
- MEDNIK syndrome ORPHA:171851
- Erythrokeratoderma variabilis progressiva ORPHA:308166
- Erythrokeratodermia variabilis ORPHA:317
- Progressive symmetric erythrokeratodermia ORPHA:316
- Hypotrichosis-deafness syndrome ORPHA:330029
- Erythrokeratodermia-cardiomyopathy syndrome ORPHA:476096
- Acrokeratoderma ORPHA:79356
- Punctate acrokeratoderma freckle-like pigmentation ORPHA:99710
- Van den Bosch syndrome ORPHA:3417
- Acrokeratoelastoidosis of Costa ORPHA:38
- Acrokeratosis verruciformis of Hopf ORPHA:79151
- Hereditary palmoplantar keratoderma ORPHA:79357
- Diffuse palmoplantar keratoderma ORPHA:307141
- Isolated diffuse palmoplantar keratoderma ORPHA:307148
- Autosomal dominant isolated diffuse palmoplantar keratoderma ORPHA:98349
- Transgrediens et progrediens palmoplantar keratoderma ORPHA:495
- Epidermolytic palmoplantar keratoderma ORPHA:2199
- Diffuse palmoplantar keratoderma, Bothnian type ORPHA:2337
- Diffuse palmoplantar keratoderma with painful fissures ORPHA:369999
- KRT1-related diffuse nonepidermolytic keratoderma ORPHA:530838
- Autosomal recessive isolated diffuse palmoplantar keratoderma ORPHA:98356
- Disease with diffuse palmoplantar keratoderma as a major feature ORPHA:307711
- Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature ORPHA:98352
- KID syndrome ORPHA:477
- Hidrotic ectodermal dysplasia ORPHA:189
- Autosomal dominant palmoplantar keratoderma and congenital alopecia ORPHA:1010
- Palmoplantar keratoderma-deafness syndrome ORPHA:2202
- Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome ORPHA:2698
- Progressive symmetric erythrokeratodermia ORPHA:316
- Huriez syndrome ORPHA:384
- Naegeli-Franceschetti-Jadassohn syndrome ORPHA:69087
- Diffuse palmoplantar keratoderma-acrocyanosis syndrome ORPHA:86918
- Keratosis palmaris et plantaris-clinodactyly syndrome ORPHA:86919
- Dermatopathia pigmentosa reticularis ORPHA:86920
- Curly hair-acral keratoderma-caries syndrome ORPHA:307766
- Autosomal dominant diffuse mutilating palmoplantar keratoderma ORPHA:307773
- Keratoderma hereditarium mutilans ORPHA:494
- Mutilating palmoplantar keratoderma with periorificial keratotic plaques ORPHA:659
- Keratoderma hereditarium mutilans with ichthyosis ORPHA:79395
- Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome ORPHA:281201
- Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome ORPHA:352662
- Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome ORPHA:538574
- Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature ORPHA:307804
- CEDNIK syndrome ORPHA:66631
- KID syndrome ORPHA:477
- Autosomal recessive palmoplantar keratoderma and congenital alopecia ORPHA:1366
- Haim-Munk syndrome ORPHA:2342
- Odonto-onycho-dermal dysplasia ORPHA:2721
- Papillon-Lefèvre syndrome ORPHA:678
- Naxos disease ORPHA:34217
- Schöpf-Schulz-Passarge syndrome ORPHA:50944
- Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome ORPHA:85112
- Skin fragility-woolly hair-palmoplantar keratoderma syndrome ORPHA:293165
- Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome ORPHA:363523
- Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome ORPHA:447961
- Focal palmoplantar keratoderma ORPHA:307837
- Isolated focal palmoplantar keratoderma ORPHA:307846
- Striate palmoplantar keratoderma ORPHA:50942
- Hereditary painful callosities ORPHA:79141
- Focal palmoplantar keratoderma with joint keratoses ORPHA:370002
- Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering ORPHA:402003
- Isolated focal non-epidermolytic palmoplantar keratoderma ORPHA:448264
- Disease with focal palmoplantar keratoderma as a major feature ORPHA:307871
- Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature ORPHA:98353
- Palmoplantar keratoderma-esophageal carcinoma syndrome ORPHA:2198
- Focal palmoplantar and gingival keratoderma ORPHA:2200
- Pachyonychia congenita ORPHA:2309
- Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome ORPHA:307936
- Autosomal recessive disease with focal palmoplantar keratoderma as a major feature ORPHA:98357
- Punctate palmoplantar keratoderma ORPHA:307967
- Isolated punctate palmoplantar keratoderma ORPHA:2338
- Porokeratosis plantaris palmaris et disseminata ORPHA:737
- Punctate palmoplantar keratoderma type 1 ORPHA:79501
- Punctate palmoplantar keratoderma type 2 ORPHA:79502
- Marginal papular palmoplantar keratoderma ORPHA:307995
- Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome ORPHA:444138
- Disease with punctate palmoplantar keratoderma as a major feature ORPHA:308023
- Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature ORPHA:308031
- Hyperkeratosis-hyperpigmentation syndrome ORPHA:1336
- Palmoplantar keratoderma-spastic paralysis syndrome ORPHA:2201
- Hypopigmentation-punctate palmoplantar keratoderma syndrome ORPHA:324561
- Autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature ORPHA:308041
- Porokeratosis ORPHA:79358
- Porokeratosis of Mibelli ORPHA:735
- Porokeratosis plantaris palmaris et disseminata ORPHA:737
- Disseminated superficial actinic porokeratosis ORPHA:79152
- Other epidermal disorder ORPHA:79359
- X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome ORPHA:482606
- Lethal acantholytic erosive disorder ORPHA:158687
- Microcephaly-congenital cataract-psoriasiform dermatitis syndrome ORPHA:488168
- Hailey-Hailey disease ORPHA:2841
- Darier disease ORPHA:218
- Absence of fingerprints-congenital milia syndrome ORPHA:1658
- Hereditary bullous dystrophy, macular type ORPHA:1867
- Keratosis follicularis-dwarfism-cerebral atrophy syndrome ORPHA:2339
- Choreoacanthocytosis ORPHA:2388
- Hyperkeratosis lenticularis perstans ORPHA:409
- Keratosis pilaris atrophicans ORPHA:498
- Keratosis follicularis spinulosa decalvans ORPHA:2340
- Ulerythema ophryogenesis ORPHA:3406
- Atrophoderma vermiculata ORPHA:79100
- Keratolytic winter erythema ORPHA:50943
- Circumscribed palmoplantar hypokeratosis ORPHA:69744
- Warty dyskeratoma ORPHA:69745
- Severe achondroplasia-developmental delay-acanthosis nigricans syndrome ORPHA:85165
- Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome ORPHA:90301
- Pustulosis palmaris et plantaris ORPHA:163927
- Acrodermatitis continua of Hallopeau ORPHA:163931
- Seborrhea-like dermatitis with psoriasiform elements ORPHA:168606
- Congenital erosive and vesicular dermatosis ORPHA:231573
- Generalized pustular psoriasis ORPHA:247353
- Neonatal inflammatory skin and bowel disease ORPHA:294023
- Severe dermatitis-multiple allergies-metabolic wasting syndrome ORPHA:369992
- 13q12.3 microdeletion syndrome ORPHA:412035
- Zinc-responsive necrolytic acral erythema ORPHA:439196
- Aquagenic palmoplantar keratoderma ORPHA:498359
- Inherited epidermolysis bullosa ORPHA:79361
- Dystrophic epidermolysis bullosa ORPHA:303
- Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form ORPHA:79408
- Recessive dystrophic epidermolysis bullosa inversa ORPHA:79409
- Localized dystrophic epidermolysis bullosa ORPHA:595356
- Localized dystrophic epidermolysis bullosa, pretibial form ORPHA:79410
- Localized dystrophic epidermolysis bullosa, acral form ORPHA:158673
- Localized dystrophic epidermolysis bullosa, nails only ORPHA:158676
- Self-improving dystrophic epidermolysis bullosa ORPHA:79411
- Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form ORPHA:89842
- Dystrophic epidermolysis bullosa pruriginosa ORPHA:89843
- Autosomal dominant generalized dystrophic epidermolysis bullosa ORPHA:231568
- Epidermolysis bullosa simplex ORPHA:304
- Epidermolysis bullosa simplex without extracutaneous involvement ORPHA:595346
- Epidermolysis bullosa simplex due to BP230 deficiency ORPHA:412181
- Epidermolysis bullosa simplex due to exophilin 5 deficiency ORPHA:412189
- Autosomal dominant generalized epidermolysis bullosa simplex, severe form ORPHA:79396
- Epidermolysis bullosa simplex with mottled pigmentation ORPHA:79397
- Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form ORPHA:79399
- Localized epidermolysis bullosa simplex ORPHA:79400
- PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement ORPHA:79401
- Autosomal recessive generalized epidermolysis bullosa simplex ORPHA:89838
- Epidermolysis bullosa simplex with circinate migratory erythema ORPHA:158681
- Epidermolysis bullosa simplex with extracutaneous involvement ORPHA:595351
- Intermediate epidermolysis bullosa simplex with cardiomyopathy ORPHA:508529
- Epidermolysis bullosa simplex with anodontia/hypodontia ORPHA:2325
- Epidermolysis bullosa simplex with muscular dystrophy ORPHA:257
- Epidermolysis bullosa simplex with pyloric atresia ORPHA:158684
- Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome ORPHA:300333
- Kindler epidermolysis bullosa ORPHA:2908
- Junctional epidermolysis bullosa ORPHA:305
- Laryngo-onycho-cutaneous syndrome ORPHA:2407
- Junctional epidermolysis bullosa with pyloric atresia ORPHA:79403
- Severe generalized junctional epidermolysis bullosa ORPHA:79404
- Junctional epidermolysis bullosa inversa ORPHA:79405
- Late-onset junctional epidermolysis bullosa ORPHA:79406
- Localized junctional epidermolysis bullosa ORPHA:251393
- Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome ORPHA:231556
- Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome ORPHA:306504
- Intermediate generalized junctional epidermolysis bullosa ORPHA:79402
- Hereditary poikiloderma ORPHA:222628
- Dyskeratosis congenita ORPHA:1775
- Werner syndrome ORPHA:902
- Rothmund-Thomson syndrome ORPHA:2909
- Hereditary sclerosing poikiloderma, Weary type ORPHA:221039
- Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome ORPHA:221043
- Poikiloderma with neutropenia ORPHA:221046
- Hereditary acrokeratotic poikiloderma ORPHA:2907
- Rare lichen planus ORPHA:254367
- Rare cutaneous lichen planus ORPHA:254370
- Graham Little-Piccardi-Lassueur syndrome ORPHA:505
- Lichen planopilaris ORPHA:525
- Bullous lichen planus ORPHA:33408
- Linear lichen planus ORPHA:254379
- Actinic lichen planus ORPHA:254395
- Annular atrophic lichen planus ORPHA:254411
- Annular lichen planus ORPHA:254424
- Atrophic lichen planus ORPHA:254449
- Lichen planus pigmentosus ORPHA:254463
- Lichen planus pemphigoides ORPHA:254478
- Frontal fibrosing alopecia ORPHA:254492
- Rare mucosal lichen planus ORPHA:254373
- Epidermal appendage anomaly ORPHA:79362
- Hair anomaly ORPHA:79363
- Alopecia ORPHA:79364
- Alopecia antibody deficiency ORPHA:1006
- Alopecia-epilepsy-pyorrhea-intellectual disability syndrome ORPHA:1008
- Alopecia universalis ORPHA:701
- Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome ORPHA:1014
- Ichthyosis follicularis-alopecia-photophobia syndrome ORPHA:2273
- Noonan syndrome-like disorder with loose anagen hair ORPHA:2701
- Alopecia-intellectual disability syndrome ORPHA:2850
- Pseudopelade of Brocq ORPHA:129
- Loose anagen syndrome ORPHA:168
- Quinquaud folliculitis decalvans ORPHA:346
- Graham Little-Piccardi-Lassueur syndrome ORPHA:505
- Marie Unna hereditary hypotrichosis ORPHA:444
- Lichen planopilaris ORPHA:525
- Alopecia totalis ORPHA:700
- Hypotrichosis simplex ORPHA:55654
- Atrichia with papular lesions ORPHA:86819
- Hypotrichosis simplex of the scalp ORPHA:90368
- Ichthyosis-hypotrichosis syndrome ORPHA:91132
- ANE syndrome ORPHA:157954
- Hereditary hypotrichosis with recurrent skin vesicles ORPHA:217407
- Frontonasal dysplasia-alopecia-genital anomalies syndrome ORPHA:228390
- Frontal fibrosing alopecia ORPHA:254492
- Hypotrichosis-deafness syndrome ORPHA:330029
- Mandibulofacial dysostosis with alopecia ORPHA:443995
- Satoyoshi syndrome ORPHA:3130
- Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome ORPHA:447961
- Rare disorder with hypertrichosis ORPHA:79365
- Amaurosis-hypertrichosis syndrome ORPHA:1021
- Donohue syndrome ORPHA:508
- Barber-Say syndrome ORPHA:1231
- Cataract-hypertrichosis-intellectual disability syndrome ORPHA:1375
- Gingival fibromatosis-hypertrichosis syndrome ORPHA:2026
- Cervical hypertrichosis-peripheral neuropathy syndrome ORPHA:2218
- Hypertrichosis cubiti ORPHA:2220
- Hypertrichosis lanuginosa congenita ORPHA:2222
- Congenital generalized hypertrichosis, Ambras type ORPHA:1023
- X-linked congenital generalized hypertrichosis ORPHA:79495
- Rabson-Mendenhall syndrome ORPHA:769
- Isolated anterior cervical hypertrichosis ORPHA:3387
- Acquired hypertrichosis lanuginosa ORPHA:2221
- Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome ORPHA:476119
- Facial dysmorphism-hypertrichosis-epilepsy-intellectual disability/developmental delay-gingival overgrowth syndrome ORPHA:598603
- Isolated hair shaft abnormality ORPHA:79366
- Uncombable hair syndrome ORPHA:1410
- Pili torti ORPHA:2889
- Ringed hair disease ORPHA:169
- Woolly hair ORPHA:170
- Monilethrix ORPHA:573
- Pili bifurcati ORPHA:720
- Woolly hair nevus ORPHA:79414
- Pili gemini ORPHA:79492
- Syndromic hair shaft abnormality ORPHA:79367
- Björnstad syndrome ORPHA:123
- Menkes disease ORPHA:565
- Pili torti-developmental delay-neurological abnormalities syndrome ORPHA:2891
- Trichodental syndrome ORPHA:3351
- Tricho-dento-osseous syndrome ORPHA:3352
- Trichodysplasia-xeroderma syndrome ORPHA:3361
- Trichothiodystrophy ORPHA:33364
- Syndrome with woolly hair ORPHA:434809
- Familial isolated trichomegaly ORPHA:411788
- Nail anomaly ORPHA:79368
- Isolated nail anomaly ORPHA:79369
- Leukonychia totalis ORPHA:2387
- Isolated congenital anonychia ORPHA:79143
- Isolated congenital onychodysplasia ORPHA:79144
- Idiopathic trachyonychia ORPHA:79153
- Isolated nail clubbing ORPHA:217059
- Autosomal recessive nail dysplasia ORPHA:280654
- Syndromic nail anomaly ORPHA:79370
- Split-foot malformation-mesoaxial polydactyly syndrome ORPHA:488232
- Hirschsprung disease-nail hypoplasia-dysmorphism syndrome ORPHA:2153
- Nail-patella syndrome ORPHA:2614
- Cooks syndrome ORPHA:1487
- Odontomicronychial dysplasia ORPHA:1811
- FLOTCH syndrome ORPHA:2045
- Pachyonychia congenita ORPHA:2309
- Deafness-onychodystrophy syndrome ORPHA:3231
- Lymphedema with yellow nails ORPHA:662
- Anonychia with flexural pigmentation ORPHA:69125
- Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome ORPHA:210133
- Hypotrichosis-deafness syndrome ORPHA:330029
- Temple-Baraitser syndrome ORPHA:420561
- Pectus excavatum-macrocephaly-dysplastic nails syndrome ORPHA:2835
- Otoonychoperoneal syndrome ORPHA:2793
- 9q33.3q34.11 microdeletion syndrome ORPHA:495818
- Sebaceous gland anomaly ORPHA:79372
- Orofaciodigital syndrome type 1 ORPHA:2750
- Steatocystoma multiplex-natal teeth syndrome ORPHA:3184
- Sebocystomatosis ORPHA:841
- Ectodermal dysplasia syndrome ORPHA:79373
- Arthrogryposis-ectodermal dysplasia syndrome ORPHA:3200
- Ellis Van Creveld syndrome ORPHA:289
- Incontinentia pigmenti ORPHA:464
- Dubowitz syndrome ORPHA:235
- Dyskeratosis congenita ORPHA:1775
- KID syndrome ORPHA:477
- Marshall syndrome ORPHA:560
- Hidrotic ectodermal dysplasia ORPHA:189
- Amelocerebrohypohidrotic syndrome ORPHA:1946
- Acrofacial dysostosis, Weyers type ORPHA:952
- Alopecia-contractures-dwarfism-intellectual disability syndrome ORPHA:1005
- Autosomal dominant palmoplantar keratoderma and congenital alopecia ORPHA:1010
- Amelo-onycho-hypohidrotic syndrome ORPHA:1028
- Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome ORPHA:1071
- Ankyloblepharon filiforme adnatum-cleft palate syndrome ORPHA:1072
- Ankyloblepharon filiforme adnatum-imperforate anus syndrome ORPHA:1074
- AREDYLD syndrome ORPHA:1133
- Cerebellar ataxia-ectodermal dysplasia syndrome ORPHA:1174
- Bartsocas-Papas syndrome ORPHA:1234
- Böök syndrome ORPHA:1262
- Tricho-retino-dento-digital syndrome ORPHA:1264
- Cardiofaciocutaneous syndrome ORPHA:1340
- Autosomal recessive palmoplantar keratoderma and congenital alopecia ORPHA:1366
- Cataract-hypertrichosis-intellectual disability syndrome ORPHA:1375
- Choroidal atrophy-alopecia syndrome ORPHA:1433
- Contractures-ectodermal dysplasia-cleft lip/palate syndrome ORPHA:1484
- Cranioectodermal dysplasia ORPHA:1515
- Dahlberg-Borer-Newcomer syndrome ORPHA:1563
- Hypotrichosis with juvenile macular degeneration ORPHA:1573
- Dermatoosteolysis, Kirghizian type ORPHA:1657
- Dermoodontodysplasia ORPHA:1660
- Barber-Say syndrome ORPHA:1231
- Thumb deformity-alopecia-pigmentation anomaly syndrome ORPHA:2251
- Ectodermal dysplasia-blindness syndrome ORPHA:1806
- Hidrotic ectodermal dysplasia, Christianson-Fourie type ORPHA:1808
- Hidrotic ectodermal dysplasia, Halal type ORPHA:1809
- Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome ORPHA:1812
- Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome ORPHA:1882
- Ectodermal dysplasia-sensorineural deafness syndrome ORPHA:1883
- Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome ORPHA:1816
- Ectodermal dysplasia, trichoodontoonychial type ORPHA:1818
- EEM syndrome ORPHA:1897
- Blepharo-cheilo-odontic syndrome ORPHA:1997
- Gingival fibromatosis-hypertrichosis syndrome ORPHA:2026
- Scalp-ear-nipple syndrome ORPHA:2036
- GAPO syndrome ORPHA:2067
- Focal dermal hypoplasia ORPHA:2092
- Gorlin-Chaudhry-Moss syndrome ORPHA:2095
- Hallermann-Streiff syndrome ORPHA:2108
- Hypertrichosis cubiti ORPHA:2220
- Hypertrichosis lanuginosa congenita ORPHA:2222
- Congenital generalized hypertrichosis, Ambras type ORPHA:1023
- X-linked congenital generalized hypertrichosis ORPHA:79495
- Hypodontia-dysplasia of nails syndrome ORPHA:2228
- Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome ORPHA:2269
- Johanson-Blizzard syndrome ORPHA:2315
- Johnson neuroectodermal syndrome ORPHA:2316
- Pyramidal molars-abnormal upper lip syndrome ORPHA:2561
- Oculodentodigital dysplasia ORPHA:2710
- Oculoosteocutaneous syndrome ORPHA:2713
- Oculotrichodysplasia ORPHA:2718
- Odonto-onycho-dermal dysplasia ORPHA:2721
- Odonto-onycho dysplasia-alopecia syndrome ORPHA:2722
- Odontotrichomelic syndrome ORPHA:2723
- Orofaciodigital syndrome type 1 ORPHA:2750
- Papillon-Lefèvre syndrome ORPHA:678
- Pili torti-onychodysplasia syndrome ORPHA:2890
- Pilodental dysplasia-refractive errors syndrome ORPHA:2892
- Cronkhite-Canada syndrome ORPHA:2930
- Corneodermatoosseous syndrome ORPHA:3194
- Deafness-enamel hypoplasia-nail defects syndrome ORPHA:3220
- Deafness-onychodystrophy syndrome ORPHA:3231
- Conductive deafness-ptosis-skeletal anomalies syndrome ORPHA:3236
- Teebi-Shaltout syndrome ORPHA:3291
- Oculoectodermal syndrome ORPHA:3339
- Trichodental syndrome ORPHA:3351
- Tricho-dento-osseous syndrome ORPHA:3352
- Trichodermodysplasia-dental alterations syndrome ORPHA:3353
- Trichoodontoonychial dysplasia ORPHA:3355
- Trichomegaly-retina pigmentary degeneration-dwarfism syndrome ORPHA:3363
- CHIME syndrome ORPHA:3474
- Cartilage-hair hypoplasia ORPHA:175
- Trichothiodystrophy ORPHA:33364
- Schöpf-Schulz-Passarge syndrome ORPHA:50944
- Carvajal syndrome ORPHA:65282
- Odonto-tricho-ungual-digito-palmar syndrome ORPHA:69082
- Ectodermal dysplasia with natal teeth, Turnpenny type ORPHA:69083
- Pure hair and nail ectodermal dysplasia ORPHA:69084
- Naegeli-Franceschetti-Jadassohn syndrome ORPHA:69087
- Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome ORPHA:69088
- Anonychia with flexural pigmentation ORPHA:69125
- Trichodysplasia-amelogenesis imperfecta syndrome ORPHA:79129
- Dermatopathia pigmentosa reticularis ORPHA:86920
- EEC syndrome and related disorders ORPHA:98609
- ADULT syndrome ORPHA:978
- EEC syndrome ORPHA:1896
- Lacrimoauriculodentodigital syndrome ORPHA:2363
- Limb-mammary syndrome ORPHA:69085
- Fried's tooth and nail syndrome ORPHA:99672
- Dermotrichic syndrome ORPHA:99688
- Lelis syndrome ORPHA:140936
- Ectodermal dysplasia-skin fragility syndrome ORPHA:158668
- Hypohidrotic ectodermal dysplasia ORPHA:238468
- X-linked hypohidrotic ectodermal dysplasia ORPHA:181
- Autosomal recessive hypohidrotic ectodermal dysplasia ORPHA:248
- Autosomal dominant hypohidrotic ectodermal dysplasia ORPHA:1810
- Ectodermal dysplasia-pili torti-cutaneous syndactyly syndrome ORPHA:247820
- Ectodermal dysplasia-hyperhidrosis-cutaneous syndactyly syndrome ORPHA:247827
- Curly hair-acral keratoderma-caries syndrome ORPHA:307766
- Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome ORPHA:307936
- Chondroectodermal dysplasia with night blindness ORPHA:319195
- Cleft lip/palate-ectodermal dysplasia syndrome ORPHA:3253
- Trichorhinophalangeal syndrome ORPHA:324764
- Focal facial dermal dysplasia ORPHA:398166
- Focal facial dermal dysplasia type III ORPHA:1807
- Focal facial dermal dysplasia type I ORPHA:79133
- Focal facial dermal dysplasia type II ORPHA:398173
- Focal facial dermal dysplasia type IV ORPHA:398189
- Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome ORPHA:423454
- CHAND syndrome ORPHA:1401
- Hallermann-Streiff-like syndrome ORPHA:2109
- Skin fragility-woolly hair-palmoplantar keratoderma syndrome ORPHA:293165
- Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome ORPHA:447961
- Hypotrichosis-intellectual disability, Lopes type ORPHA:2266
- Hypodontia-scalp hypotrichosis-facial dysmorphism syndrome ORPHA:685067
- Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies ORPHA:589608
- Hypohidrotic ectodermal dysplasia with immunodeficiency ORPHA:98813
- Isolated hyperchlorhidrosis ORPHA:542657
- Pigmentation anomaly of the skin ORPHA:79374
- Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome ORPHA:2435
- Hyperpigmentation of the skin ORPHA:79375
- Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome ORPHA:508512
- X-linked reticulate pigmentary disorder ORPHA:85453
- Neurofibromatosis type 1 ORPHA:636
- 17q11 microdeletion syndrome ORPHA:97685
- Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion ORPHA:363700
- Peutz-Jeghers syndrome ORPHA:2869
- McCune-Albright syndrome ORPHA:562
- Dyskeratosis congenita ORPHA:1775
- Fanconi anemia ORPHA:84
- Neurofibromatosis-Noonan syndrome ORPHA:638
- Noonan syndrome with multiple lentigines ORPHA:500
- Hyperkeratosis-hyperpigmentation syndrome ORPHA:1336
- Gastrocutaneous syndrome ORPHA:2069
- Moynahan syndrome ORPHA:2574
- Carney complex ORPHA:1359
- Familial isolated café-au-lait macules ORPHA:2678
- Osteopathia striata-pigmentary dermopathy-white forelock syndrome ORPHA:2779
- Phakomatosis pigmentovascularis ORPHA:2875
- Phakomatosis cesioflammea ORPHA:79483
- Phakomatosis cesiomarmorata ORPHA:79484
- Phakomatosis spilorosea ORPHA:79485
- Acromelanosis ORPHA:39
- Dyschromatosis symmetrica hereditaria ORPHA:41
- Dyschromatosis universalis hereditaria ORPHA:241
- Neuroectodermal melanolysosomal disease ORPHA:33445
- Naegeli-Franceschetti-Jadassohn syndrome ORPHA:69087
- Dowling-Degos disease ORPHA:79145
- Familial progressive hyperpigmentation ORPHA:79146
- Linear and whorled nevoid hypermelanosis ORPHA:79150
- Dermatopathia pigmentosa reticularis ORPHA:86920
- Terminal osseous dysplasia-pigmentary defects syndrome ORPHA:88630
- Full schwannomatosis ORPHA:93921
- Legius syndrome ORPHA:137605
- H syndrome ORPHA:168569
- Reticulate acropigmentation of Kitamura ORPHA:178307
- Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome ORPHA:210133
- Familial generalized lentiginosis ORPHA:231040
- Carney complex-trismus-pseudocamptodactyly syndrome ORPHA:319340
- Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome ORPHA:423454
- Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome ORPHA:488627
- Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome ORPHA:1964
- Mosaic Legius syndrome ORPHA:634511
- Hypopigmentation of the skin ORPHA:79376
- Albinism-deafness syndrome ORPHA:998
- Oculocutaneous albinism ORPHA:55
- Oculocutaneous albinism type 2 ORPHA:79432
- Oculocutaneous albinism type 3 ORPHA:79433
- Oculocutaneous albinism type 4 ORPHA:79435
- Oculocutaneous albinism type 1 ORPHA:352731
- Oculocutaneous albinism type 1A ORPHA:79431
- Oculocutaneous albinism type 1B ORPHA:79434
- Minimal pigment oculocutaneous albinism type 1 ORPHA:352734
- Temperature-sensitive oculocutaneous albinism type 1 ORPHA:352737
- Oculocutaneous albinism type 7 ORPHA:352745
- Oculocutaneous albinism type 5 ORPHA:370091
- Oculocutaneous albinism type 6 ORPHA:370097
- Oculocutaneous albinism type 8 ORPHA:597733
- Waardenburg syndrome ORPHA:3440
- Waardenburg syndrome type 1 ORPHA:894
- Waardenburg syndrome type 2 ORPHA:895
- Waardenburg syndrome type 3 ORPHA:896
- Waardenburg-Shah syndrome ORPHA:897
- Vici syndrome ORPHA:1493
- Piebaldism ORPHA:2884
- Piebald trait-neurologic defects syndrome ORPHA:2885
- Deaf blind hypopigmentation syndrome, Yemenite type ORPHA:3214
- Tietz syndrome ORPHA:42665
- Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease ORPHA:163746
- Syndromic oculocutaneous albinism ORPHA:284811
- Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome ORPHA:603494
- Chédiak-Higashi syndrome ORPHA:167
- Griscelli syndrome ORPHA:381
- Griscelli syndrome type 1 ORPHA:79476
- Griscelli syndrome type 2 ORPHA:79477
- Griscelli syndrome type 3 ORPHA:79478
- Oculocerebral hypopigmentation syndrome, Cross type ORPHA:2719
- Hermansky-Pudlak syndrome ORPHA:79430
- Hermansky-Pudlak syndrome due to AP-3 deficiency ORPHA:183678
- Hermansky-Pudlak syndrome due to AP3B1 deficiency ORPHA:664500
- Early-onset severe Hermansky-Pudlak syndrome with hearing loss, due to AP3D1 deficiency ORPHA:664511
- Hermansky-Pudlak syndrome due to BLOC-3 deficiency ORPHA:231500
- Hermansky-Pudlak syndrome due to BLOC-2 deficiency ORPHA:231512
- Hermansky-Pudlak syndrome due to BLOC-1 deficiency ORPHA:231531
- Oculocerebral hypopigmentation syndrome, Preus type ORPHA:2720
- Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies ORPHA:589608
- Familial progressive hyper- and hypopigmentation ORPHA:280628
- Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome ORPHA:447961
- Dermis disorder ORPHA:79377
- Dermis elastic tissue disorder ORPHA:79378
- Genetic dermis elastic tissue disorder ORPHA:228215
- Ehlers-Danlos/osteogenesis imperfecta syndrome ORPHA:230857
- Costello syndrome ORPHA:3071
- Cutis laxa ORPHA:209
- Geroderma osteodysplastica ORPHA:2078
- De Barsy syndrome ORPHA:2962
- SCARF syndrome ORPHA:3134
- Arterial tortuosity syndrome ORPHA:3342
- Occipital horn syndrome ORPHA:198
- Autosomal dominant cutis laxa ORPHA:90348
- Autosomal recessive cutis laxa type 1 ORPHA:90349
- Autosomal recessive cutis laxa type 2 ORPHA:90350
- Autosomal recessive cutis laxa type 2A ORPHA:357058
- Autosomal recessive cutis laxa type 2B ORPHA:357064
- RIN2 syndrome ORPHA:217335
- Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies ORPHA:221145
- Craniofaciofrontodigital syndrome ORPHA:363705
- Lethal arteriopathy syndrome due to fibulin-4 deficiency ORPHA:314718
- Pseudoxanthoma elasticum ORPHA:758
- Familial cutaneous collagenoma ORPHA:53296
- Familial reactive perforating collagenosis ORPHA:79147
- Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency ORPHA:91135
- Ehlers-Danlos syndrome ORPHA:98249
- Classical Ehlers-Danlos syndrome ORPHA:287
- Musculocontractural Ehlers-Danlos syndrome ORPHA:2953
- Hypermobile Ehlers-Danlos syndrome ORPHA:285
- Vascular Ehlers-Danlos syndrome ORPHA:286
- Kyphoscoliotic Ehlers-Danlos syndrome ORPHA:536545
- Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency ORPHA:1900
- Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency ORPHA:300179
- Arthrochalasia Ehlers-Danlos syndrome ORPHA:1899
- Dermatosparaxis Ehlers-Danlos syndrome ORPHA:1901
- Periodontal Ehlers-Danlos syndrome ORPHA:75392
- Spondylodysplastic Ehlers-Danlos syndrome ORPHA:536471
- B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome ORPHA:75496
- B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome ORPHA:536467
- SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome ORPHA:157965
- X-linked Ehlers-Danlos syndrome ORPHA:75497
- Brittle cornea syndrome ORPHA:90354
- Myopathic Ehlers-Danlos syndrome ORPHA:536516
- Classical-like Ehlers-Danlos syndrome type 1 ORPHA:230839
- Cardiac-valvular Ehlers-Danlos syndrome ORPHA:230851
- Classical-like Ehlers-Danlos syndrome type 2 ORPHA:536532
- Vascular Ehlers-Danlos-polymicrogyria syndrome ORPHA:636941
- Familial anetoderma ORPHA:228277
- Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa ORPHA:436274
- Dermatoleukodystrophy ORPHA:1659
- Familial articular hypermobility syndrome ORPHA:2295
- Acquired dermis elastic tissue disorder ORPHA:228218
- Acquired dermis elastic tissue disorder with decreased elastic tissue ORPHA:228221
- Papular elastorrhexis ORPHA:228264
- Primary anetoderma ORPHA:228272
- Acquired cutis laxa ORPHA:228285
- White fibrous papulosis of the neck ORPHA:228290
- Pseudoxanthoma elasticum-like papillary dermal elastolysis ORPHA:228293
- Mid-dermal elastolysis ORPHA:228299
- Confetti-like macular atrophy ORPHA:221142
- Acquired dermis elastic tissue disorder with increased elastic tissue ORPHA:228224
- Skin vascular disease ORPHA:79379
- Familial Chilblain lupus ORPHA:481662
- Fabry disease ORPHA:324
- Ataxia-telangiectasia ORPHA:100
- Hereditary hemorrhagic telangiectasia ORPHA:774
- Blue rubber bleb nevus ORPHA:1059
- Cutis marmorata telangiectatica congenita ORPHA:1556
- Angioosteohypertrophic syndrome ORPHA:2346
- Sturge-Weber syndrome ORPHA:3205
- Familial multiple nevi flammei ORPHA:624
- Cerebrofacial arteriovenous metameric syndrome type 2 ORPHA:53719
- Spinal arteriovenous metameric syndrome ORPHA:53721
- Megalencephaly-capillary malformation-polymicrogyria syndrome ORPHA:60040
- Chilblain lupus ORPHA:90280
- Angioma serpiginosum ORPHA:95429
- Maffucci syndrome ORPHA:163634
- Bockenheimer syndrome ORPHA:217008
- Ataxia-telangiectasia-like disorder ORPHA:251347
- Calciphylaxis cutis ORPHA:280065
- Generalized essential telangiectasia ORPHA:280774
- Cutaneous collagenous vasculopathy ORPHA:280779
- Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome ORPHA:313846
- Livedoid vasculopathy ORPHA:542643
- Atrophic papulosis ORPHA:656071
- Mixed dermis disorder ORPHA:79380
- Tuberous sclerosis complex ORPHA:805
- Adams-Oliver syndrome ORPHA:974
- Scalp defects-postaxial polydactyly syndrome ORPHA:1003
- Aplasia cutis congenita-intestinal lymphangiectasia syndrome ORPHA:1116
- Aplasia cutis-myopia syndrome ORPHA:1117
- Scalp-ear-nipple syndrome ORPHA:2036
- Focal dermal hypoplasia ORPHA:2092
- Microphthalmia with linear skin defects syndrome ORPHA:2556
- Aplasia cutis congenita ORPHA:1114
- Other dermis disorder ORPHA:79381
- Familial dysautonomia ORPHA:1764
- Pseudohypoparathyroidism with Albright hereditary osteodystrophy ORPHA:457059
- Pseudohypoparathyroidism type 1A ORPHA:79443
- Pseudohypoparathyroidism type 1C ORPHA:79444
- Pseudopseudohypoparathyroidism ORPHA:79445
- Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome ORPHA:1555
- Juvenile hyaline fibromatosis ORPHA:2028
- Progressive osseous heteroplasia ORPHA:2762
- Pachydermoperiostosis ORPHA:2796
- Antecubital pterygium syndrome ORPHA:2987
- Primary cutis verticis gyrata ORPHA:671
- Primary essential cutis verticis gyrata ORPHA:357220
- Primary non-essential cutis verticis gyrata ORPHA:357225
- Lipoid proteinosis ORPHA:530
- Dermochondrocorneal dystrophy ORPHA:79149
- Blau syndrome ORPHA:90340
- Primary cutaneous amyloidosis ORPHA:137807
- Lichen amyloidosis ORPHA:49804
- Nodular cutaneous amyloidosis ORPHA:137810
- Macular amyloidosis ORPHA:137814
- Amyloidosis cutis dyschromia ORPHA:319635
- Familial primary localized cutaneous amyloidosis ORPHA:353220
- Lichen myxedematosus ORPHA:402007
- Localized lichen myxedematosus ORPHA:86795
- Nodular lichen myxedematosus ORPHA:90393
- Discrete papular lichen myxedematosus ORPHA:90394
- Papular mucinosis of infancy ORPHA:90395
- Acral persistent papular mucinosis ORPHA:90396
- Self-healing papular mucinosis ORPHA:90397
- Atypical lichen myxedematosus ORPHA:86797
- Localized lichen myxedematosus with mixed features of different subtypes ORPHA:90398
- Localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms ORPHA:90399
- Scleromyxedema without monoclonal gammopathy ORPHA:90400
- Scleromyxedema ORPHA:167635
- Necrobiosis lipoidica ORPHA:542592
- Isolated generalized anhidrosis with normal sweat glands ORPHA:468666
- Linear atrophoderma of Moulin ORPHA:140933
- Atrophoderma of Pasini and Pierini ORPHA:658810
- Isolated anogenital granulomatosis ORPHA:692256
- Partial deep dermal and full thickness burns ORPHA:90076
- Subcutaneous tissue disease ORPHA:79382
- Farber disease ORPHA:333
- Fibrodysplasia ossificans progressiva ORPHA:337
- Cerebrotendinous xanthomatosis ORPHA:909
- Multiple symmetric lipomatosis ORPHA:2398
- Encephalocraniocutaneous lipomatosis ORPHA:2396
- Roch-Leri mesosomatous lipomatosis ORPHA:529
- Dissecting cellulitis of the scalp ORPHA:345
- Nodular non-suppurative panniculitis ORPHA:33577
- Adiposis dolorosa ORPHA:36397
- Primary lipodystrophy ORPHA:90970
- Genetic lipodystrophy ORPHA:98305
- Congenital generalized lipodystrophy ORPHA:528
- Lipodystrophy due to peptidic growth factors deficiency ORPHA:1979
- Mandibuloacral dysplasia ORPHA:2457
- Mandibuloacral dysplasia with type A lipodystrophy ORPHA:90153
- Mandibuloacral dysplasia with type B lipodystrophy ORPHA:90154
- SHORT syndrome ORPHA:3163
- Wiedemann-Rautenstrauch syndrome ORPHA:3455
- Lipodystrophy-intellectual disability-deafness syndrome ORPHA:50811
- Familial partial lipodystrophy ORPHA:98306
- Familial partial lipodystrophy, Dunnigan type ORPHA:2348
- PPARG-related familial partial lipodystrophy ORPHA:79083
- Familial partial lipodystrophy, Köbberling type ORPHA:79084
- AKT2-related familial partial lipodystrophy ORPHA:79085
- PLIN1-related familial partial lipodystrophy ORPHA:280356
- Autosomal semi-dominant severe lipodystrophic laminopathy ORPHA:280365
- CIDEC-related familial partial lipodystrophy ORPHA:435651
- LIPE-related familial partial lipodystrophy ORPHA:435660
- Progressive encephalopathy-severe neurodegeneration-lipodystrophy syndrome ORPHA:363400
- Keppen-Lubinsky syndrome ORPHA:435628
- Lipodystrophy-demyelinating peripheral sensory-motor neuropathy syndrome ORPHA:686999
- Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome ORPHA:363649
- Proteasome-associated autoinflammatory syndrome ORPHA:324977
- Nestor-Guillermo progeria syndrome ORPHA:280576
- Acquired lipodystrophy ORPHA:98307
- Cytophagic histiocytic panniculitis ORPHA:94087
- CLOVES syndrome ORPHA:140944
- Familial multiple lipomatosis ORPHA:199276
- Familial angiolipomatosis ORPHA:199279
- Isolated generalized anhidrosis with normal sweat glands ORPHA:468666
- Nodular fasciitis ORPHA:477742
- Alacrimia-choreoathetosis-liver dysfunction syndrome ORPHA:404454
- Primary lymphedema ORPHA:77240
- Primary lymphedema without systemic or visceral involvement ORPHA:568041
- Congenital primary lymphedema without systemic or visceral involvement ORPHA:2416
- Amniotic band syndrome ORPHA:295000
- Microcephaly-lymphedema-chorioretinopathy syndrome ORPHA:2526
- Congenital primary lymphedema of Gordon ORPHA:569821
- Milroy disease ORPHA:79452
- German syndrome ORPHA:2077
- Late-onset primary lymphedema without systemic or visceral involvement ORPHA:289825
- Primary lymphedema with systemic or visceral involvement ORPHA:568044
- Dahlberg-Borer-Newcomer syndrome ORPHA:1563
- PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis ORPHA:568062
- Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome ORPHA:568056
- EPHB4-related lymphatic-related hydrops fetalis ORPHA:568065
- Aplasia cutis congenita-intestinal lymphangiectasia syndrome ORPHA:1116
- Hennekam syndrome ORPHA:2136
- Lymphedema with yellow nails ORPHA:662
- Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome ORPHA:69735
- Lymphedema-atrial septal defects-facial changes syndrome ORPHA:86915
- Disorder with multisystemic involvement and primary lymphedema ORPHA:568047
- Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome ORPHA:69088
- PEHO syndrome ORPHA:2836
- Müllerian derivatives-lymphangiectasia-polydactyly syndrome ORPHA:1655
- Takenouchi-Kosaki syndrome ORPHA:487796
- Phelan-McDermid syndrome ORPHA:48652
- Phelan-McDermid syndrome due to SHANK3 mutation ORPHA:662172
- Phelan-McDermid syndrome due to 22q13.3 deletion ORPHA:662169
- Fabry disease ORPHA:324
- Noonan syndrome ORPHA:648
- PEHO-like syndrome ORPHA:99807
- Tuberous sclerosis complex ORPHA:805
- Turner syndrome ORPHA:881
- Turner syndrome due to structural X chromosome anomalies ORPHA:99413
- Mosaic monosomy X syndrome ORPHA:99228
- Monosomy X syndrome ORPHA:99226
- Cardiofaciocutaneous syndrome ORPHA:1340
- Oculodentodigital dysplasia ORPHA:2710
- Prolidase deficiency ORPHA:742
- Rare urticaria ORPHA:79384
- Unclassified genetic skin disorder ORPHA:79385
- Rare skin tumor or hamartoma ORPHA:79386
- Neurofibromatosis type 1 ORPHA:636
- 17q11 microdeletion syndrome ORPHA:97685
- Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion ORPHA:363700
- Gorlin syndrome ORPHA:377
- Tuberous sclerosis complex ORPHA:805
- Neurofibromatosis-Noonan syndrome ORPHA:638
- Bazex-Dupré-Christol syndrome ORPHA:113
- Rombo syndrome ORPHA:3110
- Primary cutaneous lymphoma ORPHA:542
- Primary cutaneous T-cell lymphoma ORPHA:171901
- Indolent primary cutaneous T-cell lymphoma ORPHA:178548
- Primary cutaneous CD30+ T-cell lymphoproliferative disease ORPHA:541
- Subcutaneous panniculitis-like T-cell lymphoma ORPHA:86884
- Primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma ORPHA:178522
- Mycosis fungoides and variants ORPHA:178566
- Aggressive primary cutaneous T-cell lymphoma ORPHA:178551
- Sézary syndrome ORPHA:3162
- Adult T-cell leukemia/lymphoma ORPHA:86875
- Extranodal nasal NK/T cell lymphoma ORPHA:86879
- Primary cutaneous peripheral T-cell lymphoma not otherwise specified ORPHA:86885
- Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma ORPHA:178528
- Primary cutaneous gamma/delta-positive T-cell lymphoma ORPHA:178533
- Primary cutaneous B-cell lymphoma ORPHA:178563
- Infantile myofibromatosis ORPHA:2591
- Familial melanoma ORPHA:618
- Proliferating trichilemmal cyst ORPHA:492
- Syringocystadenoma papilliferum ORPHA:840
- Trichofolliculoma ORPHA:864
- Birt-Hogg-Dubé syndrome ORPHA:122
- Familial keratoacanthoma ORPHA:493
- Hereditary leiomyomatosis and renal cell cancer ORPHA:523
- Dermatofibrosarcoma protuberans ORPHA:31112
- Extramammary Paget disease ORPHA:2800
- Familial tumoral calcinosis ORPHA:53715
- Familial normophosphatemic tumoral calcinosis ORPHA:306658
- Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome ORPHA:306661
- Multiple self-healing squamous epithelioma ORPHA:65748
- Cutaneous neuroendocrine carcinoma ORPHA:79140
- Brooke-Spiegler syndrome ORPHA:79493
- Gardner syndrome ORPHA:79665
- Pilomatrixoma ORPHA:91414
- Generalized basaloid follicular hamartoma syndrome ORPHA:168632
- Malignant melanoma of the mucosa ORPHA:168999
- Superficial fibromatosis ORPHA:199257
- Ledderhose disease ORPHA:199251
- Calcifying aponeurotic fibroma ORPHA:199260
- Infantile digital fibromatosis ORPHA:199267
- Congenital smooth muscle hamartoma ORPHA:263435
- Hemihyperplasia-multiple lipomatosis syndrome ORPHA:276280
- Rare nevus ORPHA:294057
- Cowden syndrome ORPHA:201
- Large/giant congenital melanocytic nevus ORPHA:626
- MME-related autosomal dominant Charcot Marie Tooth disease type 2 ORPHA:497757
- Linear nevus sebaceus syndrome ORPHA:2612
- Proteus syndrome ORPHA:744
- CHILD syndrome ORPHA:139
- Neurocutaneous melanocytosis ORPHA:2481
- Phakomatosis pigmentokeratotica ORPHA:2874
- Proteus-like syndrome ORPHA:2969
- Linear verrucous nevus syndrome ORPHA:2611
- Inflammatory linear verrucous epidermal nevus ORPHA:79466
- Verrucous nevus ORPHA:79467
- Acanthokeratolytic verrucous nevus ORPHA:79468
- Epidermal nevus syndrome ORPHA:35125
- Nevus comedonicus syndrome ORPHA:64754
- Becker nevus syndrome ORPHA:64755
- Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome ORPHA:137608
- Congenital panfollicular nevus ORPHA:139414
- CLOVES syndrome ORPHA:140944
- Porokeratotic eccrine ostial and dermal duct nevus ORPHA:166286
- White sponge nevus ORPHA:171723
- Nevus of Ota ORPHA:263425
- Nevus of Ito ORPHA:263432
- PENS syndrome ORPHA:313936
- Angora hair nevus ORPHA:370039
- Didymosis aplasticosebacea ORPHA:370046
- SCALP syndrome ORPHA:370052
- NEVADA syndrome ORPHA:370059
- Epidermolytic nevus ORPHA:497737
- Rare nail tumor ORPHA:300515
- PTEN hamartoma tumor syndrome ORPHA:306498
- Cowden syndrome ORPHA:201
- Lhermitte-Duclos disease ORPHA:65285
- Bannayan-Riley-Ruvalcaba syndrome ORPHA:109
- Proteus-like syndrome ORPHA:2969
- Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome ORPHA:137608
- Familial atypical multiple mole melanoma syndrome ORPHA:404560
- Generalized eruptive keratoacanthoma ORPHA:411777
- Pilomatrix carcinoma ORPHA:499182
- Familial multiple discoid fibromas ORPHA:538756
- Angiomatoid fibrous histiocytoma ORPHA:569164
- Eccrine angiomatous hamartoma ORPHA:673568
- Intravascular papillary endothelial hyperplasia ORPHA:673525
- Metabolic disease with skin involvement ORPHA:79387
- Porphyria ORPHA:738
- Erythropoietic porphyria ORPHA:659681
- Congenital erythropoietic porphyria ORPHA:79277
- Autosomal erythropoietic protoporphyria ORPHA:79278
- X-linked erythropoietic protoporphyria ORPHA:443197
- Erythropoietic uroporphyria associated with myeloid malignancy ORPHA:280379
- Hepatoerythropoietic porphyria ORPHA:95159
- Harderoporphyria ORPHA:659672
- Hepatic porphyria ORPHA:659694
- Prolidase deficiency ORPHA:742
- Other metabolic disease with skin involvement ORPHA:79217
- Alkaptonuria ORPHA:56
- Multiple carboxylase deficiency ORPHA:148
- Acrodermatitis enteropathica ORPHA:37
- Mucopolysaccharidosis with skin involvement ORPHA:79388
- Congenital disorder of glycosylation with skin involvement ORPHA:371200
- Musculocontractural Ehlers-Danlos syndrome ORPHA:2953
- CHIME syndrome ORPHA:3474
- Dowling-Degos disease ORPHA:79145
- PMM2-CDG ORPHA:79318
- MPDU1-CDG ORPHA:79323
- COG7-CDG ORPHA:79333
- DK1-CDG ORPHA:91131
- ATP6AP1-CDG ORPHA:692790
- Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome ORPHA:306661
- SRD5A3-CDG ORPHA:324737
- Autosomal recessive cutis laxa type 2A ORPHA:357058
- GM3 synthase deficiency ORPHA:370933
- Hyperzincemia and hypercalprotectinemia ORPHA:251523
- Premature aging ORPHA:79389
- Hallermann-Streiff-like syndrome ORPHA:2109
- Cockayne syndrome ORPHA:191
- COFS syndrome ORPHA:1466
- Cockayne syndrome type 1 ORPHA:90321
- Cockayne syndrome type 2 ORPHA:90322
- Cockayne syndrome type 3 ORPHA:90324
- Werner syndrome ORPHA:902
- Flynn-Aird syndrome ORPHA:2047
- Hallermann-Streiff syndrome ORPHA:2108
- Acrogeria ORPHA:2500
- Hutchinson-Gilford progeria syndrome ORPHA:740
- Progeria-short stature-pigmented nevi syndrome ORPHA:2959
- De Barsy syndrome ORPHA:2962
- Wiedemann-Rautenstrauch syndrome ORPHA:3455
- Progeroid syndrome, Petty type ORPHA:2963
- Xeroderma pigmentosum-Cockayne syndrome complex ORPHA:220295
- Nestor-Guillermo progeria syndrome ORPHA:280576
- LMNA-related cardiocutaneous progeria syndrome ORPHA:363618
- Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome ORPHA:363649
- Acroosteolysis-keloid-like lesions-premature aging syndrome ORPHA:363665
- PCNA-related progressive neurodegenerative photosensitivity syndrome ORPHA:438134
- Rare photodermatosis ORPHA:79390
- Solar urticaria ORPHA:97230
- UV-sensitive syndrome ORPHA:178338
- Xeroderma pigmentosum-Cockayne syndrome complex ORPHA:220295
- Hydroa vacciniforme ORPHA:330058
- Actinic prurigo ORPHA:330061
- Chronic actinic dermatitis ORPHA:330064
- Xeroderma pigmentosum variant ORPHA:90342
- Bloom syndrome ORPHA:125
- Hartnup disease ORPHA:2116
- Porphyria ORPHA:738
- Erythropoietic porphyria ORPHA:659681
- Congenital erythropoietic porphyria ORPHA:79277
- Autosomal erythropoietic protoporphyria ORPHA:79278
- X-linked erythropoietic protoporphyria ORPHA:443197
- Erythropoietic uroporphyria associated with myeloid malignancy ORPHA:280379
- Hepatoerythropoietic porphyria ORPHA:95159
- Harderoporphyria ORPHA:659672
- Hepatic porphyria ORPHA:659694
- Rothmund-Thomson syndrome ORPHA:2909
- Xeroderma pigmentosum ORPHA:910
- Kindler epidermolysis bullosa ORPHA:2908
- Immune deficiency with skin involvement ORPHA:79391
- CADINS disease ORPHA:619972
- Autosomal recessive hyper-IgE syndrome due to ZNF341 deficiency ORPHA:641368
- Autosomal dominant combined immunodeficiency due to ERBIN deficiency ORPHA:656912
- Autosomal recessive combined immunodeficiency due to partial IL6ST deficiency ORPHA:656300
- Autosomal recessive combined immunodeficiency due to IL6R deficiency ORPHA:656326
- Early-onset immune dysregulation with autoimmunity due to DOCK11 partial deficiency ORPHA:658946
- PLCG2-associated antibody deficiency and immune dysregulation ORPHA:300359
- Combined immunodeficiency due to RELA haploinsufficiency ORPHA:596759
- Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome ORPHA:568056
- Wiskott-Aldrich syndrome ORPHA:906
- Chronic granulomatous disease ORPHA:379
- Chédiak-Higashi syndrome ORPHA:167
- Chronic mucocutaneous candidiasis ORPHA:1334
- Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency ORPHA:2314
- Hereditary mucoepithelial dysplasia ORPHA:1839
- Inherited epidermodysplasia verruciformis ORPHA:302
- Erythroderma desquamativum ORPHA:314
- Griscelli syndrome type 2 ORPHA:79477
- Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome ORPHA:83617
- Combined immunodeficiency with granulomatosis ORPHA:157949
- WHIM syndrome ORPHA:51636
- Other acquired skin disease ORPHA:90077
- Uremic pruritus ORPHA:94059
- Cheilitis glandularis ORPHA:1221
- Sneddon syndrome ORPHA:820
- Erosive pustular dermatosis of the scalp ORPHA:222
- Kerion celsi ORPHA:499
- Wells syndrome ORPHA:901
- Jessner lymphocytic infiltration of the skin ORPHA:33314
- Bullous impetigo ORPHA:36237
- Acquired kinky hair syndrome ORPHA:37559
- Subcorneal pustular dermatosis ORPHA:48377
- Aseptic abscess syndrome ORPHA:54251
- Interstitial granulomatous dermatitis with arthritis ORPHA:79099
- Pellagra ORPHA:97352
- Nephrogenic systemic fibrosis ORPHA:137617
- Bazex syndrome ORPHA:166113
- Virus-associated trichodysplasia spinulosa ORPHA:228379
- Infective dermatitis associated with HTLV-1 ORPHA:289347
- Scleredema ORPHA:352763
- Eosinophilic fasciitis ORPHA:3165
- Primary cutaneous tuberculosis ORPHA:645849
- Nicolau syndrome ORPHA:664787
- Trigeminal trophic syndrome ORPHA:664901
- Granuloma faciale ORPHA:615943
- Classic eosinophilic pustular folliculitis ORPHA:617408
- Primary cutaneous plasmacytosis ORPHA:451602
- Cutaneous pseudolymphoma ORPHA:451607
- Cutaneous mastocytosis ORPHA:66646
- Cutaneous mastocytoma ORPHA:79455
- Diffuse cutaneous mastocytosis ORPHA:79456
- Bullous diffuse cutaneous mastocytosis ORPHA:280785
- Pseudoxanthomatous diffuse cutaneous mastocytosis ORPHA:280794
- Maculopapular cutaneous mastocytosis ORPHA:79457
- Erythema elevatum diutinum ORPHA:90000
- Systemic disease with skin involvement ORPHA:290836
- Scleroderma ORPHA:801
- Dermatomyositis ORPHA:221
- Amyopathic dermatomyositis ORPHA:645617
- Adermatopathic dermatomyositis ORPHA:645626
- Classical dermatomyositis ORPHA:645613
- Reynolds syndrome ORPHA:779
- Juvenile dermatomyositis ORPHA:93672
- Non-Langerhans cell histiocytosis ORPHA:157987
- Rosaï-Dorfman disease ORPHA:158014
- Erdheim-Chester disease ORPHA:35687
- Multicentric reticulohistiocytosis ORPHA:139436
- Generalized eruptive histiocytosis ORPHA:157991
- Benign cephalic histiocytosis ORPHA:157997
- Juvenile xanthogranuloma ORPHA:158000
- Xanthoma disseminatum ORPHA:158003
- Papular xanthoma ORPHA:158008
- Necrobiotic xanthogranuloma ORPHA:158011
- Indeterminate cell histiocytosis ORPHA:158019
- Progressive nodular histiocytosis ORPHA:158022
- Hereditary progressive mucinous histiocytosis ORPHA:158025
- Drug-induced lupus erythematosus ORPHA:231111
- Autoinflammatory syndrome with skin involvement ORPHA:290842
- Hyperzincemia and hypercalprotectinemia ORPHA:251523
- Autoinflammatory syndrome with acne and/or hidradenitis suppurativa ORPHA:653434
- PAPASH syndrome ORPHA:641380
- PAPA syndrome ORPHA:69126
- PASH syndrome ORPHA:289478
- PASS syndrome ORPHA:641385
- PsAPASH syndrome ORPHA:641390
- SAPHO syndrome ORPHA:793
- Early-onset autoinflammatory syndrome due to A20 haploinsufficiency ORPHA:674762
- Sweet syndrome ORPHA:3243
- Behçet disease ORPHA:117
- Tumor necrosis factor receptor 1 associated periodic syndrome ORPHA:32960
- Pyoderma gangrenosum ORPHA:48104
- Classic pyoderma gangrenosum ORPHA:538863
- Pustular pyoderma gangrenosum ORPHA:538866
- Bullous pyoderma gangrenosum ORPHA:538869
- Vegetative pyoderma gangrenosum ORPHA:538872
- Majeed syndrome ORPHA:77297
- Blau syndrome ORPHA:90340
- NLRP3-associated autoinflammatory disease ORPHA:208650
- Muckle-Wells syndrome ORPHA:575
- CINCA syndrome ORPHA:1451
- Familial cold urticaria ORPHA:47045
- Keratitis fugax hereditaria ORPHA:647815
- Sterile multifocal osteomyelitis with periostitis and pustulosis ORPHA:210115
- NLRP12-associated hereditary periodic fever syndrome ORPHA:247868
- Infantile onset panniculitis with uveitis and systemic granulomatosis ORPHA:251304
- Mevalonate kinase deficiency ORPHA:309025
- Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis ORPHA:324964
- Proteasome-associated autoinflammatory syndrome ORPHA:324977
- DITRA ORPHA:404546
- STING-associated vasculopathy with onset in infancy ORPHA:425120
- Neonatal inflammatory skin and bowel disease ORPHA:294023
- NLRC4-related familial cold autoinflammatory syndrome ORPHA:576349
- Periodic fever-infantile enterocolitis-autoinflammatory syndrome ORPHA:436166
- SAMD9L-associated autoinflammatory syndrome ORPHA:619367
- NOCARH syndrome ORPHA:619363
- VEXAS syndrome ORPHA:596753
- F12-associated cold autoinflammatory syndrome ORPHA:617919
- Toxic dermatosis ORPHA:293815
- Erythema multiforme major ORPHA:502499
- Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum ORPHA:95455
- Toxic epidermal necrolysis ORPHA:537
- Stevens-Johnson syndrome ORPHA:36426
- Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome ORPHA:506784
- Drug reaction with eosinophilia and systemic symptoms ORPHA:139402
- Acute generalized exanthematous pustulosis ORPHA:293173
- Fixed drug eruption ORPHA:293812
- Autoimmune disease with skin involvement ORPHA:315350
- Rare cutaneous lupus erythematosus ORPHA:535
- Subacute cutaneous lupus erythematosus ORPHA:163525
- Chronic cutaneous lupus erythematosus ORPHA:163531
- Autoimmune bullous skin disease ORPHA:79669
- Pemphigus vulgaris ORPHA:704
- Dermatitis herpetiformis ORPHA:1656
- Bullous pemphigoid ORPHA:703
- Superficial pemphigus ORPHA:46485
- Endemic pemphigus foliaceus ORPHA:636955
- Pemphigus erythematosus ORPHA:79480
- Pemphigus foliaceus ORPHA:79481
- Herpetiform pemphigus ORPHA:208524
- Mucous membrane pemphigoid ORPHA:46486
- Epidermolysis bullosa acquisita ORPHA:46487
- Linear IgA dermatosis ORPHA:46488
- Pemphigoid gestationis ORPHA:63275
- Paraneoplastic pemphigus ORPHA:63455
- IgA pemphigus ORPHA:555905
- Anti-p200 pemphigoid ORPHA:454710
- Pemphigus vegetans ORPHA:79479
- Autoerythrocyte sensitization syndrome ORPHA:324636
- Rowell syndrome ORPHA:658584