Orphanet classification: Rare skin disease (ORPHA:89826)
Disorder type: Category
Subcategories and diseases:
Name: Epidermal disease
OrphaCode: 79353
DisorderType: Category
Children: Name: Ichthyosis
OrphaCode: 79354
DisorderType: Category
Children: Name: Acquired ichthyosis
OrphaCode: 454
DisorderType: Disease
Name: Inherited ichthyosis
OrphaCode: 183435
DisorderType: Category
Children: Name: Inherited non-syndromic ichthyosis
OrphaCode: 281082
DisorderType: Category
Children: Name: Recessive X-linked ichthyosis
OrphaCode: 461
DisorderType: Disease
Name: Erythrokeratodermia variabilis
OrphaCode: 317
DisorderType: Disease
Name: Peeling skin syndrome
OrphaCode: 817
DisorderType: Clinical group
Children: Name: Acral peeling skin syndrome
OrphaCode: 263534
DisorderType: Disease
Name: Generalized peeling skin syndrome
OrphaCode: 263543
DisorderType: Disease
Children: Name: Peeling skin syndrome type A
OrphaCode: 263548
DisorderType: Clinical subtype
Name: Peeling skin syndrome type B
OrphaCode: 263553
DisorderType: Clinical subtype
Name: Keratoderma hereditarium mutilans with ichthyosis
OrphaCode: 79395
DisorderType: Disease
Name: Autosomal recessive congenital ichthyosis
OrphaCode: 281097
DisorderType: Clinical group
Children: Name: Lamellar ichthyosis
OrphaCode: 313
DisorderType: Disease
Name: Harlequin ichthyosis
OrphaCode: 457
DisorderType: Disease
Name: Congenital ichthyosiform erythroderma
OrphaCode: 79394
DisorderType: Disease
Name: Bathing suit ichthyosis
OrphaCode: 100976
DisorderType: Disease
Name: Self-improving collodion baby
OrphaCode: 281122
DisorderType: Disease
Name: Acral self-healing collodion baby
OrphaCode: 281127
DisorderType: Disease
Name: Exfoliative ichthyosis
OrphaCode: 289586
DisorderType: Disease
Name: Keratinopathic ichthyosis
OrphaCode: 281103
DisorderType: Clinical group
Children: Name: Congenital reticular ichthyosiform erythroderma
OrphaCode: 281190
DisorderType: Disease
Name: Autosomal dominant epidermolytic ichthyosis
OrphaCode: 312
DisorderType: Disease
Name: Superficial epidermolytic ichthyosis
OrphaCode: 455
DisorderType: Disease
Name: Ichthyosis hystrix of Curth-Macklin
OrphaCode: 79503
DisorderType: Disease
Name: Annular epidermolytic ichthyosis
OrphaCode: 281139
DisorderType: Disease
Name: Autosomal recessive epidermolytic ichthyosis
OrphaCode: 512103
DisorderType: Disease
Name: Epidermolytic nevus
OrphaCode: 497737
DisorderType: Disease
Name: Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome
OrphaCode: 281201
DisorderType: Disease
Name: Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome
OrphaCode: 444138
DisorderType: Disease
Name: Inherited ichthyosis syndromic form
OrphaCode: 281085
DisorderType: Category
Children: Name: X-linked ichthyosis syndrome
OrphaCode: 281210
DisorderType: Clinical group
Children: Name: CHILD syndrome
OrphaCode: 139
DisorderType: Disease
Name: Ichthyosis follicularis-alopecia-photophobia syndrome
OrphaCode: 2273
DisorderType: Disease
Name: X-linked dominant chondrodysplasia punctata
OrphaCode: 35173
DisorderType: Disease
Name: Syndromic recessive X-linked ichthyosis
OrphaCode: 281090
DisorderType: Disease
Name: Autosomal ichthyosis syndrome
OrphaCode: 281217
DisorderType: Category
Children: Name: Autosomal ichthyosis syndrome with prominent hair abnormalities
OrphaCode: 281222
DisorderType: Category
Children: Name: Netherton syndrome
OrphaCode: 634
DisorderType: Disease
Name: Neonatal ichthyosis-sclerosing cholangitis syndrome
OrphaCode: 59303
DisorderType: Disease
Name: Ichthyosis-hypotrichosis syndrome
OrphaCode: 91132
DisorderType: Disease
Name: Trichothiodystrophy
OrphaCode: 33364
DisorderType: Disease
Name: Autosomal ichthyosis syndrome with prominent neurologic signs
OrphaCode: 281238
DisorderType: Category
Children: Name: Refsum disease
OrphaCode: 773
DisorderType: Disease
Name: Sjögren-Larsson syndrome
OrphaCode: 816
DisorderType: Disease
Name: Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome
OrphaCode: 2269
DisorderType: Disease
Name: Congenital ichthyosis-microcephalus-tetraplegia syndrome
OrphaCode: 2271
DisorderType: Disease
Name: Neu-Laxova syndrome
OrphaCode: 2671
DisorderType: Malformation syndrome
Children: Name: Neu-Laxova syndrome due to 3-phosphoserine phosphatase deficiency
OrphaCode: 583612
DisorderType: Etiological subtype
Name: Neu-Laxova syndrome due to phosphoserine aminotransferase deficiency
OrphaCode: 583602
DisorderType: Etiological subtype
Name: Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency
OrphaCode: 583607
DisorderType: Etiological subtype
Name: MEDNIK syndrome
OrphaCode: 171851
DisorderType: Disease
Name: Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome
OrphaCode: 352333
DisorderType: Disease
Name: Autosomal ichthyosis syndrome with fatal disease course
OrphaCode: 281241
DisorderType: Category
Children: Name: Multiple sulfatase deficiency
OrphaCode: 585
DisorderType: Disease
Name: Arthrogryposis-renal dysfunction-cholestasis syndrome
OrphaCode: 2697
DisorderType: Malformation syndrome
Name: CEDNIK syndrome
OrphaCode: 66631
DisorderType: Disease
Name: Fetal Gaucher disease
OrphaCode: 85212
DisorderType: Clinical subtype
Name: Neu-Laxova syndrome
OrphaCode: 2671
DisorderType: Malformation syndrome
Children: Name: Neu-Laxova syndrome due to 3-phosphoserine phosphatase deficiency
OrphaCode: 583612
DisorderType: Etiological subtype
Name: Neu-Laxova syndrome due to phosphoserine aminotransferase deficiency
OrphaCode: 583602
DisorderType: Etiological subtype
Name: Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency
OrphaCode: 583607
DisorderType: Etiological subtype
Name: Autosomal ichthyosis syndrome with other associated signs
OrphaCode: 281244
DisorderType: Category
Children: Name: KID syndrome
OrphaCode: 477
DisorderType: Disease
Name: Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome
OrphaCode: 3151
DisorderType: Disease
Name: Ichthyosis-oral and digital anomalies syndrome
OrphaCode: 2272
DisorderType: Malformation syndrome
Name: Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome
OrphaCode: 2274
DisorderType: Disease
Name: Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome
OrphaCode: 2278
DisorderType: Malformation syndrome
Name: Osteosclerosis-ichthyosis-premature ovarian failure syndrome
OrphaCode: 75325
DisorderType: Disease
Name: X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome
OrphaCode: 3055
DisorderType: Malformation syndrome
Name: Ichthyosis-prematurity syndrome
OrphaCode: 88621
DisorderType: Disease
Name: DK1-CDG
OrphaCode: 91131
DisorderType: Disease
Name: Neutral lipid storage disease with ichthyosis
OrphaCode: 98907
DisorderType: Disease
Name: Ichthyosis-short stature-brachydactyly-microspherophakia syndrome
OrphaCode: 363992
DisorderType: Disease
Name: Alacrimia-choreoathetosis-liver dysfunction syndrome
OrphaCode: 404454
DisorderType: Disease
Name: Erythrokeratoderma
OrphaCode: 79355
DisorderType: Category
Children: Name: Pityriasis rubra pilaris
OrphaCode: 2897
DisorderType: Disease
Name: Spinocerebellar ataxia type 34
OrphaCode: 1955
DisorderType: Disease
Name: Erythrokeratoderma ''en cocardes''
OrphaCode: 315
DisorderType: Disease
Name: MEDNIK syndrome
OrphaCode: 171851
DisorderType: Disease
Name: Erythrokeratoderma variabilis progressiva
OrphaCode: 308166
DisorderType: Clinical group
Children: Name: Erythrokeratodermia variabilis
OrphaCode: 317
DisorderType: Disease
Name: Progressive symmetric erythrokeratodermia
OrphaCode: 316
DisorderType: Disease
Name: Hypotrichosis-deafness syndrome
OrphaCode: 330029
DisorderType: Disease
Name: Erythrokeratodermia-cardiomyopathy syndrome
OrphaCode: 476096
DisorderType: Disease
Name: Acrokeratoderma
OrphaCode: 79356
DisorderType: Category
Children: Name: Punctate acrokeratoderma freckle-like pigmentation
OrphaCode: 99710
DisorderType: Disease
Name: Van den Bosch syndrome
OrphaCode: 3417
DisorderType: Malformation syndrome
Name: Acrokeratoelastoidosis of Costa
OrphaCode: 38
DisorderType: Disease
Name: Acrokeratosis verruciformis of Hopf
OrphaCode: 79151
DisorderType: Disease
Name: Hereditary palmoplantar keratoderma
OrphaCode: 79357
DisorderType: Category
Children: Name: Diffuse palmoplantar keratoderma
OrphaCode: 307141
DisorderType: Category
Children: Name: Isolated diffuse palmoplantar keratoderma
OrphaCode: 307148
DisorderType: Clinical group
Children: Name: Autosomal dominant isolated diffuse palmoplantar keratoderma
OrphaCode: 98349
DisorderType: Category
Children: Name: Transgrediens et progrediens palmoplantar keratoderma
OrphaCode: 495
DisorderType: Disease
Name: Epidermolytic palmoplantar keratoderma
OrphaCode: 2199
DisorderType: Disease
Name: Diffuse palmoplantar keratoderma, Bothnian type
OrphaCode: 2337
DisorderType: Disease
Name: Diffuse palmoplantar keratoderma with painful fissures
OrphaCode: 369999
DisorderType: Disease
Name: KRT1-related diffuse nonepidermolytic keratoderma
OrphaCode: 530838
DisorderType: Disease
Name: Autosomal recessive isolated diffuse palmoplantar keratoderma
OrphaCode: 98356
DisorderType: Category
Children: Name: Hereditary palmoplantar keratoderma, Gamborg-Nielsen type
OrphaCode: 86923
DisorderType: Disease
Name: Mal de Meleda
OrphaCode: 87503
DisorderType: Disease
Name: Palmoplantar keratoderma, Nagashima type
OrphaCode: 140966
DisorderType: Disease
Name: Disease with diffuse palmoplantar keratoderma as a major feature
OrphaCode: 307711
DisorderType: Category
Children: Name: Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature
OrphaCode: 98352
DisorderType: Category
Children: Name: KID syndrome
OrphaCode: 477
DisorderType: Disease
Name: Hidrotic ectodermal dysplasia
OrphaCode: 189
DisorderType: Disease
Name: Autosomal dominant palmoplantar keratoderma and congenital alopecia
OrphaCode: 1010
DisorderType: Disease
Name: Palmoplantar keratoderma-deafness syndrome
OrphaCode: 2202
DisorderType: Disease
Name: Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome
OrphaCode: 2698
DisorderType: Disease
Name: Progressive symmetric erythrokeratodermia
OrphaCode: 316
DisorderType: Disease
Name: Huriez syndrome
OrphaCode: 384
DisorderType: Disease
Name: Naegeli-Franceschetti-Jadassohn syndrome
OrphaCode: 69087
DisorderType: Disease
Name: Diffuse palmoplantar keratoderma-acrocyanosis syndrome
OrphaCode: 86918
DisorderType: Disease
Name: Keratosis palmaris et plantaris-clinodactyly syndrome
OrphaCode: 86919
DisorderType: Disease
Name: Dermatopathia pigmentosa reticularis
OrphaCode: 86920
DisorderType: Disease
Name: Curly hair-acral keratoderma-caries syndrome
OrphaCode: 307766
DisorderType: Disease
Name: Autosomal dominant diffuse mutilating palmoplantar keratoderma
OrphaCode: 307773
DisorderType: Clinical group
Children: Name: Keratoderma hereditarium mutilans
OrphaCode: 494
DisorderType: Disease
Name: Mutilating palmoplantar keratoderma with periorificial keratotic plaques
OrphaCode: 659
DisorderType: Disease
Name: Keratoderma hereditarium mutilans with ichthyosis
OrphaCode: 79395
DisorderType: Disease
Name: Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome
OrphaCode: 281201
DisorderType: Disease
Name: Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome
OrphaCode: 352662
DisorderType: Disease
Name: Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome
OrphaCode: 538574
DisorderType: Disease
Name: Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature
OrphaCode: 307804
DisorderType: Category
Children: Name: CEDNIK syndrome
OrphaCode: 66631
DisorderType: Disease
Name: KID syndrome
OrphaCode: 477
DisorderType: Disease
Name: Autosomal recessive palmoplantar keratoderma and congenital alopecia
OrphaCode: 1366
DisorderType: Disease
Name: Haim-Munk syndrome
OrphaCode: 2342
DisorderType: Disease
Name: Odonto-onycho-dermal dysplasia
OrphaCode: 2721
DisorderType: Disease
Name: Papillon-Lefèvre syndrome
OrphaCode: 678
DisorderType: Disease
Name: Naxos disease
OrphaCode: 34217
DisorderType: Disease
Name: Schöpf-Schulz-Passarge syndrome
OrphaCode: 50944
DisorderType: Disease
Name: Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome
OrphaCode: 85112
DisorderType: Disease
Name: Skin fragility-woolly hair-palmoplantar keratoderma syndrome
OrphaCode: 293165
DisorderType: Disease
Name: Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
OrphaCode: 363523
DisorderType: Disease
Name: Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome
OrphaCode: 447961
DisorderType: Disease
Name: Focal palmoplantar keratoderma
OrphaCode: 307837
DisorderType: Category
Children: Name: Isolated focal palmoplantar keratoderma
OrphaCode: 307846
DisorderType: Clinical group
Children: Name: Striate palmoplantar keratoderma
OrphaCode: 50942
DisorderType: Disease
Name: Hereditary painful callosities
OrphaCode: 79141
DisorderType: Disease
Name: Focal palmoplantar keratoderma with joint keratoses
OrphaCode: 370002
DisorderType: Disease
Name: Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering
OrphaCode: 402003
DisorderType: Disease
Name: Isolated focal non-epidermolytic palmoplantar keratoderma
OrphaCode: 448264
DisorderType: Disease
Name: Disease with focal palmoplantar keratoderma as a major feature
OrphaCode: 307871
DisorderType: Category
Children: Name: Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature
OrphaCode: 98353
DisorderType: Category
Children: Name: Palmoplantar keratoderma-esophageal carcinoma syndrome
OrphaCode: 2198
DisorderType: Disease
Name: Focal palmoplantar and gingival keratoderma
OrphaCode: 2200
DisorderType: Disease
Name: Pachyonychia congenita
OrphaCode: 2309
DisorderType: Disease
Name: Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome
OrphaCode: 307936
DisorderType: Disease
Name: Autosomal recessive disease with focal palmoplantar keratoderma as a major feature
OrphaCode: 98357
DisorderType: Category
Children: Name: Tyrosinemia type 2
OrphaCode: 28378
DisorderType: Disease
Name: Carvajal syndrome
OrphaCode: 65282
DisorderType: Disease
Name: Woolly hair-palmoplantar keratoderma syndrome
OrphaCode: 420686
DisorderType: Disease
Name: Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome
OrphaCode: 423454
DisorderType: Disease
Name: Punctate palmoplantar keratoderma
OrphaCode: 307967
DisorderType: Category
Children: Name: Isolated punctate palmoplantar keratoderma
OrphaCode: 2338
DisorderType: Clinical group
Children: Name: Porokeratosis plantaris palmaris et disseminata
OrphaCode: 737
DisorderType: Disease
Name: Punctate palmoplantar keratoderma type 1
OrphaCode: 79501
DisorderType: Disease
Name: Punctate palmoplantar keratoderma type 2
OrphaCode: 79502
DisorderType: Disease
Name: Marginal papular palmoplantar keratoderma
OrphaCode: 307995
DisorderType: Clinical group
Children: Name: Acrokeratoelastoidosis of Costa
OrphaCode: 38
DisorderType: Disease
Name: Focal acral hyperkeratosis
OrphaCode: 308013
DisorderType: Disease
Name: Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome
OrphaCode: 444138
DisorderType: Disease
Name: Disease with punctate palmoplantar keratoderma as a major feature
OrphaCode: 308023
DisorderType: Category
Children: Name: Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature
OrphaCode: 308031
DisorderType: Category
Children: Name: Hyperkeratosis-hyperpigmentation syndrome
OrphaCode: 1336
DisorderType: Disease
Name: Palmoplantar keratoderma-spastic paralysis syndrome
OrphaCode: 2201
DisorderType: Disease
Name: Hypopigmentation-punctate palmoplantar keratoderma syndrome
OrphaCode: 324561
DisorderType: Disease
Name: Autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature
OrphaCode: 308041
DisorderType: Category
Children: Name: Leukoencephalopathy-palmoplantar keratoderma syndrome
OrphaCode: 2386
DisorderType: Disease
Name: Porokeratosis
OrphaCode: 79358
DisorderType: Category
Children: Name: Porokeratosis of Mibelli
OrphaCode: 735
DisorderType: Disease
Name: Porokeratosis plantaris palmaris et disseminata
OrphaCode: 737
DisorderType: Disease
Name: Disseminated superficial actinic porokeratosis
OrphaCode: 79152
DisorderType: Disease
Name: Other epidermal disorder
OrphaCode: 79359
DisorderType: Category
Children: Name: X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome
OrphaCode: 482606
DisorderType: Malformation syndrome
Name: Lethal acantholytic erosive disorder
OrphaCode: 158687
DisorderType: Disease
Name: Microcephaly-congenital cataract-psoriasiform dermatitis syndrome
OrphaCode: 488168
DisorderType: Malformation syndrome
Name: Hailey-Hailey disease
OrphaCode: 2841
DisorderType: Disease
Name: Darier disease
OrphaCode: 218
DisorderType: Disease
Name: Absence of fingerprints-congenital milia syndrome
OrphaCode: 1658
DisorderType: Disease
Name: Hereditary bullous dystrophy, macular type
OrphaCode: 1867
DisorderType: Disease
Name: Keratosis follicularis-dwarfism-cerebral atrophy syndrome
OrphaCode: 2339
DisorderType: Malformation syndrome
Name: Choreoacanthocytosis
OrphaCode: 2388
DisorderType: Disease
Name: Hyperkeratosis lenticularis perstans
OrphaCode: 409
DisorderType: Disease
Name: Keratosis pilaris atrophicans
OrphaCode: 498
DisorderType: Clinical group
Children: Name: Keratosis follicularis spinulosa decalvans
OrphaCode: 2340
DisorderType: Disease
Name: Ulerythema ophryogenesis
OrphaCode: 3406
DisorderType: Disease
Name: Atrophoderma vermiculata
OrphaCode: 79100
DisorderType: Disease
Name: Keratolytic winter erythema
OrphaCode: 50943
DisorderType: Disease
Name: Circumscribed palmoplantar hypokeratosis
OrphaCode: 69744
DisorderType: Disease
Name: Warty dyskeratoma
OrphaCode: 69745
DisorderType: Disease
Name: Severe achondroplasia-developmental delay-acanthosis nigricans syndrome
OrphaCode: 85165
DisorderType: Disease
Name: Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome
OrphaCode: 90301
DisorderType: Disease
Name: Pustulosis palmaris et plantaris
OrphaCode: 163927
DisorderType: Disease
Name: Acrodermatitis continua of Hallopeau
OrphaCode: 163931
DisorderType: Disease
Name: Seborrhea-like dermatitis with psoriasiform elements
OrphaCode: 168606
DisorderType: Disease
Name: Congenital erosive and vesicular dermatosis
OrphaCode: 231573
DisorderType: Disease
Name: Generalized pustular psoriasis
OrphaCode: 247353
DisorderType: Disease
Name: Neonatal inflammatory skin and bowel disease
OrphaCode: 294023
DisorderType: Disease
Name: Severe dermatitis-multiple allergies-metabolic wasting syndrome
OrphaCode: 369992
DisorderType: Disease
Name: 13q12.3 microdeletion syndrome
OrphaCode: 412035
DisorderType: Malformation syndrome
Name: Zinc-responsive necrolytic acral erythema
OrphaCode: 439196
DisorderType: Particular clinical situation in a disease or syndrome
Name: Aquagenic palmoplantar keratoderma
OrphaCode: 498359
DisorderType: Disease
Name: Inherited epidermolysis bullosa
OrphaCode: 79361
DisorderType: Category
Children: Name: Dystrophic epidermolysis bullosa
OrphaCode: 303
DisorderType: Clinical group
Children: Name: Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form
OrphaCode: 79408
DisorderType: Disease
Name: Recessive dystrophic epidermolysis bullosa inversa
OrphaCode: 79409
DisorderType: Disease
Name: Localized dystrophic epidermolysis bullosa
OrphaCode: 595356
DisorderType: Disease
Children: Name: Localized dystrophic epidermolysis bullosa, pretibial form
OrphaCode: 79410
DisorderType: Clinical subtype
Name: Localized dystrophic epidermolysis bullosa, acral form
OrphaCode: 158673
DisorderType: Clinical subtype
Name: Localized dystrophic epidermolysis bullosa, nails only
OrphaCode: 158676
DisorderType: Clinical subtype
Name: Self-improving dystrophic epidermolysis bullosa
OrphaCode: 79411
DisorderType: Disease
Name: Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form
OrphaCode: 89842
DisorderType: Disease
Name: Dystrophic epidermolysis bullosa pruriginosa
OrphaCode: 89843
DisorderType: Disease
Name: Autosomal dominant generalized dystrophic epidermolysis bullosa
OrphaCode: 231568
DisorderType: Disease
Name: Epidermolysis bullosa simplex
OrphaCode: 304
DisorderType: Clinical group
Children: Name: Epidermolysis bullosa simplex without extracutaneous involvement
OrphaCode: 595346
DisorderType: Category
Children: Name: Epidermolysis bullosa simplex due to BP230 deficiency
OrphaCode: 412181
DisorderType: Disease
Name: Epidermolysis bullosa simplex due to exophilin 5 deficiency
OrphaCode: 412189
DisorderType: Disease
Name: Autosomal dominant generalized epidermolysis bullosa simplex, severe form
OrphaCode: 79396
DisorderType: Disease
Name: Epidermolysis bullosa simplex with mottled pigmentation
OrphaCode: 79397
DisorderType: Disease
Name: Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form
OrphaCode: 79399
DisorderType: Disease
Name: Localized epidermolysis bullosa simplex
OrphaCode: 79400
DisorderType: Disease
Name: PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement
OrphaCode: 79401
DisorderType: Disease
Name: Autosomal recessive generalized epidermolysis bullosa simplex
OrphaCode: 89838
DisorderType: Disease
Name: Epidermolysis bullosa simplex with circinate migratory erythema
OrphaCode: 158681
DisorderType: Disease
Name: Epidermolysis bullosa simplex with extracutaneous involvement
OrphaCode: 595351
DisorderType: Category
Children: Name: Intermediate epidermolysis bullosa simplex with cardiomyopathy
OrphaCode: 508529
DisorderType: Disease
Name: Epidermolysis bullosa simplex with anodontia/hypodontia
OrphaCode: 2325
DisorderType: Malformation syndrome
Name: Epidermolysis bullosa simplex with muscular dystrophy
OrphaCode: 257
DisorderType: Disease
Name: Epidermolysis bullosa simplex with pyloric atresia
OrphaCode: 158684
DisorderType: Disease
Name: Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome
OrphaCode: 300333
DisorderType: Disease
Name: Kindler epidermolysis bullosa
OrphaCode: 2908
DisorderType: Disease
Name: Junctional epidermolysis bullosa
OrphaCode: 305
DisorderType: Clinical group
Children: Name: Laryngo-onycho-cutaneous syndrome
OrphaCode: 2407
DisorderType: Disease
Name: Junctional epidermolysis bullosa with pyloric atresia
OrphaCode: 79403
DisorderType: Disease
Name: Severe generalized junctional epidermolysis bullosa
OrphaCode: 79404
DisorderType: Disease
Name: Junctional epidermolysis bullosa inversa
OrphaCode: 79405
DisorderType: Disease
Name: Late-onset junctional epidermolysis bullosa
OrphaCode: 79406
DisorderType: Disease
Name: Localized junctional epidermolysis bullosa
OrphaCode: 251393
DisorderType: Disease
Name: Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome
OrphaCode: 231556
DisorderType: Disease
Name: Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome
OrphaCode: 306504
DisorderType: Disease
Name: Intermediate generalized junctional epidermolysis bullosa
OrphaCode: 79402
DisorderType: Disease
Name: Hereditary poikiloderma
OrphaCode: 222628
DisorderType: Category
Children: Name: Dyskeratosis congenita
OrphaCode: 1775
DisorderType: Disease
Name: Werner syndrome
OrphaCode: 902
DisorderType: Disease
Name: Rothmund-Thomson syndrome
OrphaCode: 2909
DisorderType: Disease
Children: Name: Rothmund-Thomson syndrome type 1
OrphaCode: 221008
DisorderType: Clinical subtype
Name: Rothmund-Thomson syndrome type 2
OrphaCode: 221016
DisorderType: Clinical subtype
Name: Hereditary sclerosing poikiloderma, Weary type
OrphaCode: 221039
DisorderType: Disease
Name: Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome
OrphaCode: 221043
DisorderType: Disease
Name: Poikiloderma with neutropenia
OrphaCode: 221046
DisorderType: Disease
Name: Hereditary acrokeratotic poikiloderma
OrphaCode: 2907
DisorderType: Disease
Name: Rare lichen planus
OrphaCode: 254367
DisorderType: Category
Children: Name: Rare cutaneous lichen planus
OrphaCode: 254370
DisorderType: Category
Children: Name: Graham Little-Piccardi-Lassueur syndrome
OrphaCode: 505
DisorderType: Disease
Name: Lichen planopilaris
OrphaCode: 525
DisorderType: Disease
Name: Bullous lichen planus
OrphaCode: 33408
DisorderType: Disease
Name: Linear lichen planus
OrphaCode: 254379
DisorderType: Disease
Name: Actinic lichen planus
OrphaCode: 254395
DisorderType: Disease
Name: Annular atrophic lichen planus
OrphaCode: 254411
DisorderType: Disease
Name: Annular lichen planus
OrphaCode: 254424
DisorderType: Disease
Name: Atrophic lichen planus
OrphaCode: 254449
DisorderType: Disease
Name: Lichen planus pigmentosus
OrphaCode: 254463
DisorderType: Disease
Name: Lichen planus pemphigoides
OrphaCode: 254478
DisorderType: Disease
Name: Frontal fibrosing alopecia
OrphaCode: 254492
DisorderType: Disease
Name: Rare mucosal lichen planus
OrphaCode: 254373
DisorderType: Category
Children: Name: Vulvovaginal gingival syndrome
OrphaCode: 83453
DisorderType: Disease
Name: Epidermal appendage anomaly
OrphaCode: 79362
DisorderType: Category
Children: Name: Hair anomaly
OrphaCode: 79363
DisorderType: Category
Children: Name: Alopecia
OrphaCode: 79364
DisorderType: Category
Children: Name: Alopecia antibody deficiency
OrphaCode: 1006
DisorderType: Disease
Name: Alopecia-epilepsy-pyorrhea-intellectual disability syndrome
OrphaCode: 1008
DisorderType: Disease
Name: Alopecia universalis
OrphaCode: 701
DisorderType: Disease
Name: Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome
OrphaCode: 1014
DisorderType: Disease
Name: Ichthyosis follicularis-alopecia-photophobia syndrome
OrphaCode: 2273
DisorderType: Disease
Name: Noonan syndrome-like disorder with loose anagen hair
OrphaCode: 2701
DisorderType: Malformation syndrome
Name: Alopecia-intellectual disability syndrome
OrphaCode: 2850
DisorderType: Disease
Name: Pseudopelade of Brocq
OrphaCode: 129
DisorderType: Disease
Name: Loose anagen syndrome
OrphaCode: 168
DisorderType: Disease
Name: Quinquaud folliculitis decalvans
OrphaCode: 346
DisorderType: Disease
Name: Graham Little-Piccardi-Lassueur syndrome
OrphaCode: 505
DisorderType: Disease
Name: Marie Unna hereditary hypotrichosis
OrphaCode: 444
DisorderType: Disease
Name: Lichen planopilaris
OrphaCode: 525
DisorderType: Disease
Name: Alopecia totalis
OrphaCode: 700
DisorderType: Disease
Name: Hypotrichosis simplex
OrphaCode: 55654
DisorderType: Disease
Name: Atrichia with papular lesions
OrphaCode: 86819
DisorderType: Disease
Name: Hypotrichosis simplex of the scalp
OrphaCode: 90368
DisorderType: Disease
Name: Ichthyosis-hypotrichosis syndrome
OrphaCode: 91132
DisorderType: Disease
Name: ANE syndrome
OrphaCode: 157954
DisorderType: Disease
Name: Hereditary hypotrichosis with recurrent skin vesicles
OrphaCode: 217407
DisorderType: Disease
Name: Frontonasal dysplasia-alopecia-genital anomalies syndrome
OrphaCode: 228390
DisorderType: Malformation syndrome
Name: Frontal fibrosing alopecia
OrphaCode: 254492
DisorderType: Disease
Name: Hypotrichosis-deafness syndrome
OrphaCode: 330029
DisorderType: Disease
Name: Mandibulofacial dysostosis with alopecia
OrphaCode: 443995
DisorderType: Malformation syndrome
Name: Satoyoshi syndrome
OrphaCode: 3130
DisorderType: Disease
Name: Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome
OrphaCode: 447961
DisorderType: Disease
Name: Rare disorder with hypertrichosis
OrphaCode: 79365
DisorderType: Category
Children: Name: Amaurosis-hypertrichosis syndrome
OrphaCode: 1021
DisorderType: Disease
Name: Leprechaunism
OrphaCode: 508
DisorderType: Malformation syndrome
Name: Barber-Say syndrome
OrphaCode: 1231
DisorderType: Malformation syndrome
Name: Cataract-hypertrichosis-intellectual disability syndrome
OrphaCode: 1375
DisorderType: Malformation syndrome
Name: Gingival fibromatosis-hypertrichosis syndrome
OrphaCode: 2026
DisorderType: Malformation syndrome
Name: Cervical hypertrichosis-peripheral neuropathy syndrome
OrphaCode: 2218
DisorderType: Disease
Name: Hypertrichosis cubiti
OrphaCode: 2220
DisorderType: Malformation syndrome
Name: Hypertrichosis lanuginosa congenita
OrphaCode: 2222
DisorderType: Disease
Children: Name: Congenital generalized hypertrichosis, Ambras type
OrphaCode: 1023
DisorderType: Clinical subtype
Name: X-linked congenital generalized hypertrichosis
OrphaCode: 79495
DisorderType: Clinical subtype
Name: Rabson-Mendenhall syndrome
OrphaCode: 769
DisorderType: Malformation syndrome
Name: Isolated anterior cervical hypertrichosis
OrphaCode: 3387
DisorderType: Disease
Name: Acquired hypertrichosis lanuginosa
OrphaCode: 2221
DisorderType: Disease
Name: Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome
OrphaCode: 476119
DisorderType: Malformation syndrome
Name: Facial dysmorphism-hypertrichosis-epilepsy-intellectual disability/developmental delay-gingival overgrowth syndrome
OrphaCode: 598603
DisorderType: Malformation syndrome
Name: Isolated hair shaft abnormality
OrphaCode: 79366
DisorderType: Category
Children: Name: Uncombable hair syndrome
OrphaCode: 1410
DisorderType: Disease
Name: Pili torti
OrphaCode: 2889
DisorderType: Disease
Name: Ringed hair disease
OrphaCode: 169
DisorderType: Disease
Name: Woolly hair
OrphaCode: 170
DisorderType: Disease
Name: Monilethrix
OrphaCode: 573
DisorderType: Disease
Name: Pili bifurcati
OrphaCode: 720
DisorderType: Disease
Name: Woolly hair nevus
OrphaCode: 79414
DisorderType: Disease
Name: Pili gemini
OrphaCode: 79492
DisorderType: Disease
Name: Syndromic hair shaft abnormality
OrphaCode: 79367
DisorderType: Category
Children: Name: Björnstad syndrome
OrphaCode: 123
DisorderType: Disease
Name: Menkes disease
OrphaCode: 565
DisorderType: Disease
Name: Pili torti-developmental delay-neurological abnormalities syndrome
OrphaCode: 2891
DisorderType: Malformation syndrome
Name: Trichodental syndrome
OrphaCode: 3351
DisorderType: Malformation syndrome
Name: Tricho-dento-osseous syndrome
OrphaCode: 3352
DisorderType: Malformation syndrome
Name: Trichodysplasia-xeroderma syndrome
OrphaCode: 3361
DisorderType: Malformation syndrome
Name: Crandall syndrome
OrphaCode: 202
DisorderType: Disease
Name: Trichothiodystrophy
OrphaCode: 33364
DisorderType: Disease
Name: Syndrome with woolly hair
OrphaCode: 434809
DisorderType: Category
Children: Name: Naxos disease
OrphaCode: 34217
DisorderType: Disease
Name: Carvajal syndrome
OrphaCode: 65282
DisorderType: Disease
Name: Skin fragility-woolly hair-palmoplantar keratoderma syndrome
OrphaCode: 293165
DisorderType: Disease
Name: Woolly hair-palmoplantar keratoderma syndrome
OrphaCode: 420686
DisorderType: Disease
Name: Familial isolated trichomegaly
OrphaCode: 411788
DisorderType: Disease
Name: Nail anomaly
OrphaCode: 79368
DisorderType: Category
Children: Name: Isolated nail anomaly
OrphaCode: 79369
DisorderType: Category
Children: Name: Leukonychia totalis
OrphaCode: 2387
DisorderType: Disease
Name: Isolated congenital anonychia
OrphaCode: 79143
DisorderType: Disease
Children: Name: Anonychia-onychodystrophy syndrome
OrphaCode: 90390
DisorderType: Clinical subtype
Name: Anonychia congenita totalis
OrphaCode: 94150
DisorderType: Clinical subtype
Name: Isolated congenital onychodysplasia
OrphaCode: 79144
DisorderType: Disease
Name: Idiopathic trachyonychia
OrphaCode: 79153
DisorderType: Disease
Name: Isolated nail clubbing
OrphaCode: 217059
DisorderType: Morphological anomaly
Name: Autosomal recessive nail dysplasia
OrphaCode: 280654
DisorderType: Disease
Name: Syndromic nail anomaly
OrphaCode: 79370
DisorderType: Category
Children: Name: Split-foot malformation-mesoaxial polydactyly syndrome
OrphaCode: 488232
DisorderType: Malformation syndrome
Name: Hirschsprung disease-nail hypoplasia-dysmorphism syndrome
OrphaCode: 2153
DisorderType: Malformation syndrome
Name: Nail-patella syndrome
OrphaCode: 2614
DisorderType: Malformation syndrome
Name: Cooks syndrome
OrphaCode: 1487
DisorderType: Malformation syndrome
Name: Odontomicronychial dysplasia
OrphaCode: 1811
DisorderType: Malformation syndrome
Name: FLOTCH syndrome
OrphaCode: 2045
DisorderType: Disease
Name: Pachyonychia congenita
OrphaCode: 2309
DisorderType: Disease
Name: Deafness-onychodystrophy syndrome
OrphaCode: 3231
DisorderType: Clinical group
Children: Name: Autosomal dominant deafness-onychodystrophy syndrome
OrphaCode: 79499
DisorderType: Malformation syndrome
Name: DOORS syndrome
OrphaCode: 79500
DisorderType: Malformation syndrome
Name: Yellow nail syndrome
OrphaCode: 662
DisorderType: Disease
Name: Anonychia with flexural pigmentation
OrphaCode: 69125
DisorderType: Malformation syndrome
Name: Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome
OrphaCode: 210133
DisorderType: Disease
Name: Hypotrichosis-deafness syndrome
OrphaCode: 330029
DisorderType: Disease
Name: Temple-Baraitser syndrome
OrphaCode: 420561
DisorderType: Disease
Name: Pectus excavatum-macrocephaly-dysplastic nails syndrome
OrphaCode: 2835
DisorderType: Malformation syndrome
Name: Otoonychoperoneal syndrome
OrphaCode: 2793
DisorderType: Malformation syndrome
Name: 9q33.3q34.11 microdeletion syndrome
OrphaCode: 495818
DisorderType: Malformation syndrome
Name: Sebaceous gland anomaly
OrphaCode: 79372
DisorderType: Category
Children: Name: Orofaciodigital syndrome type 1
OrphaCode: 2750
DisorderType: Malformation syndrome
Name: Steatocystoma multiplex-natal teeth syndrome
OrphaCode: 3184
DisorderType: Malformation syndrome
Name: Sebocystomatosis
OrphaCode: 841
DisorderType: Disease
Name: Ectodermal dysplasia syndrome
OrphaCode: 79373
DisorderType: Category
Children: Name: Arthrogryposis-ectodermal dysplasia syndrome
OrphaCode: 3200
DisorderType: Malformation syndrome
Name: Ellis Van Creveld syndrome
OrphaCode: 289
DisorderType: Malformation syndrome
Name: Incontinentia pigmenti
OrphaCode: 464
DisorderType: Malformation syndrome
Name: Dubowitz syndrome
OrphaCode: 235
DisorderType: Malformation syndrome
Name: Dyskeratosis congenita
OrphaCode: 1775
DisorderType: Disease
Name: KID syndrome
OrphaCode: 477
DisorderType: Disease
Name: Marshall syndrome
OrphaCode: 560
DisorderType: Malformation syndrome
Name: Hidrotic ectodermal dysplasia
OrphaCode: 189
DisorderType: Disease
Name: Amelocerebrohypohidrotic syndrome
OrphaCode: 1946
DisorderType: Malformation syndrome
Name: Acrofacial dysostosis, Weyers type
OrphaCode: 952
DisorderType: Malformation syndrome
Name: Alopecia-contractures-dwarfism-intellectual disability syndrome
OrphaCode: 1005
DisorderType: Malformation syndrome
Name: Autosomal dominant palmoplantar keratoderma and congenital alopecia
OrphaCode: 1010
DisorderType: Disease
Name: Amelo-onycho-hypohidrotic syndrome
OrphaCode: 1028
DisorderType: Malformation syndrome
Name: Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
OrphaCode: 1071
DisorderType: Malformation syndrome
Children: Name: Ankyloblepharon filiforme adnatum-cleft palate syndrome
OrphaCode: 1072
DisorderType: Clinical subtype
Name: Ankyloblepharon filiforme adnatum-imperforate anus syndrome
OrphaCode: 1074
DisorderType: Clinical subtype
Name: AREDYLD syndrome
OrphaCode: 1133
DisorderType: Malformation syndrome
Name: Cerebellar ataxia-ectodermal dysplasia syndrome
OrphaCode: 1174
DisorderType: Malformation syndrome
Name: Bartsocas-Papas syndrome
OrphaCode: 1234
DisorderType: Malformation syndrome
Name: Böök syndrome
OrphaCode: 1262
DisorderType: Malformation syndrome
Name: Tricho-retino-dento-digital syndrome
OrphaCode: 1264
DisorderType: Malformation syndrome
Name: Cardiofaciocutaneous syndrome
OrphaCode: 1340
DisorderType: Malformation syndrome
Name: Autosomal recessive palmoplantar keratoderma and congenital alopecia
OrphaCode: 1366
DisorderType: Disease
Name: Cataract-hypertrichosis-intellectual disability syndrome
OrphaCode: 1375
DisorderType: Malformation syndrome
Name: Choroidal atrophy-alopecia syndrome
OrphaCode: 1433
DisorderType: Malformation syndrome
Name: Contractures-ectodermal dysplasia-cleft lip/palate syndrome
OrphaCode: 1484
DisorderType: Malformation syndrome
Name: Cranioectodermal dysplasia
OrphaCode: 1515
DisorderType: Malformation syndrome
Name: Dahlberg-Borer-Newcomer syndrome
OrphaCode: 1563
DisorderType: Malformation syndrome
Name: Hypotrichosis with juvenile macular degeneration
OrphaCode: 1573
DisorderType: Malformation syndrome
Name: Dermatoosteolysis, Kirghizian type
OrphaCode: 1657
DisorderType: Malformation syndrome
Name: Dermoodontodysplasia
OrphaCode: 1660
DisorderType: Malformation syndrome
Name: Barber-Say syndrome
OrphaCode: 1231
DisorderType: Malformation syndrome
Name: Thumb deformity-alopecia-pigmentation anomaly syndrome
OrphaCode: 2251
DisorderType: Malformation syndrome
Name: Ectodermal dysplasia-blindness syndrome
OrphaCode: 1806
DisorderType: Malformation syndrome
Name: Hidrotic ectodermal dysplasia, Christianson-Fourie type
OrphaCode: 1808
DisorderType: Malformation syndrome
Name: Hidrotic ectodermal dysplasia, Halal type
OrphaCode: 1809
DisorderType: Malformation syndrome
Name: Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome
OrphaCode: 1812
DisorderType: Malformation syndrome
Name: Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome
OrphaCode: 1882
DisorderType: Malformation syndrome
Name: Ectodermal dysplasia-sensorineural deafness syndrome
OrphaCode: 1883
DisorderType: Malformation syndrome
Name: Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome
OrphaCode: 1816
DisorderType: Malformation syndrome
Name: Ectodermal dysplasia, trichoodontoonychial type
OrphaCode: 1818
DisorderType: Malformation syndrome
Name: EEM syndrome
OrphaCode: 1897
DisorderType: Malformation syndrome
Name: Blepharo-cheilo-odontic syndrome
OrphaCode: 1997
DisorderType: Malformation syndrome
Name: Gingival fibromatosis-hypertrichosis syndrome
OrphaCode: 2026
DisorderType: Malformation syndrome
Name: Scalp-ear-nipple syndrome
OrphaCode: 2036
DisorderType: Malformation syndrome
Name: GAPO syndrome
OrphaCode: 2067
DisorderType: Malformation syndrome
Name: Focal dermal hypoplasia
OrphaCode: 2092
DisorderType: Malformation syndrome
Name: Gorlin-Chaudhry-Moss syndrome
OrphaCode: 2095
DisorderType: Malformation syndrome
Name: Hallermann-Streiff syndrome
OrphaCode: 2108
DisorderType: Malformation syndrome
Name: Hypertrichosis cubiti
OrphaCode: 2220
DisorderType: Malformation syndrome
Name: Hypertrichosis lanuginosa congenita
OrphaCode: 2222
DisorderType: Disease
Children: Name: Congenital generalized hypertrichosis, Ambras type
OrphaCode: 1023
DisorderType: Clinical subtype
Name: X-linked congenital generalized hypertrichosis
OrphaCode: 79495
DisorderType: Clinical subtype
Name: Hypodontia-dysplasia of nails syndrome
OrphaCode: 2228
DisorderType: Malformation syndrome
Name: Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome
OrphaCode: 2269
DisorderType: Disease
Name: Johanson-Blizzard syndrome
OrphaCode: 2315
DisorderType: Malformation syndrome
Name: Johnson neuroectodermal syndrome
OrphaCode: 2316
DisorderType: Malformation syndrome
Name: Pyramidal molars-abnormal upper lip syndrome
OrphaCode: 2561
DisorderType: Malformation syndrome
Name: Oculodentodigital dysplasia
OrphaCode: 2710
DisorderType: Malformation syndrome
Name: Oculoosteocutaneous syndrome
OrphaCode: 2713
DisorderType: Malformation syndrome
Name: Oculotrichodysplasia
OrphaCode: 2718
DisorderType: Malformation syndrome
Name: Odonto-onycho-dermal dysplasia
OrphaCode: 2721
DisorderType: Disease
Name: Odonto-onycho dysplasia-alopecia syndrome
OrphaCode: 2722
DisorderType: Malformation syndrome
Name: Odontotrichomelic syndrome
OrphaCode: 2723
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 1
OrphaCode: 2750
DisorderType: Malformation syndrome
Name: Papillon-Lefèvre syndrome
OrphaCode: 678
DisorderType: Disease
Name: Pili torti-onychodysplasia syndrome
OrphaCode: 2890
DisorderType: Malformation syndrome
Name: Pilodental dysplasia-refractive errors syndrome
OrphaCode: 2892
DisorderType: Malformation syndrome
Name: Cronkhite-Canada syndrome
OrphaCode: 2930
DisorderType: Disease
Name: Schinzel-Giedion syndrome
OrphaCode: 798
DisorderType: Malformation syndrome
Name: Corneodermatoosseous syndrome
OrphaCode: 3194
DisorderType: Malformation syndrome
Name: Deafness-enamel hypoplasia-nail defects syndrome
OrphaCode: 3220
DisorderType: Malformation syndrome
Name: Deafness-onychodystrophy syndrome
OrphaCode: 3231
DisorderType: Clinical group
Children: Name: Autosomal dominant deafness-onychodystrophy syndrome
OrphaCode: 79499
DisorderType: Malformation syndrome
Name: DOORS syndrome
OrphaCode: 79500
DisorderType: Malformation syndrome
Name: Conductive deafness-ptosis-skeletal anomalies syndrome
OrphaCode: 3236
DisorderType: Malformation syndrome
Name: Teebi-Shaltout syndrome
OrphaCode: 3291
DisorderType: Malformation syndrome
Name: Oculoectodermal syndrome
OrphaCode: 3339
DisorderType: Malformation syndrome
Name: Trichodental syndrome
OrphaCode: 3351
DisorderType: Malformation syndrome
Name: Tricho-dento-osseous syndrome
OrphaCode: 3352
DisorderType: Malformation syndrome
Name: Trichodermodysplasia-dental alterations syndrome
OrphaCode: 3353
DisorderType: Malformation syndrome
Name: Trichoodontoonychial dysplasia
OrphaCode: 3355
DisorderType: Malformation syndrome
Name: Trichomegaly-retina pigmentary degeneration-dwarfism syndrome
OrphaCode: 3363
DisorderType: Malformation syndrome
Name: CHIME syndrome
OrphaCode: 3474
DisorderType: Malformation syndrome
Name: Cartilage-hair hypoplasia
OrphaCode: 175
DisorderType: Disease
Name: Trichothiodystrophy
OrphaCode: 33364
DisorderType: Disease
Name: Schöpf-Schulz-Passarge syndrome
OrphaCode: 50944
DisorderType: Disease
Name: Carvajal syndrome
OrphaCode: 65282
DisorderType: Disease
Name: Odonto-tricho-ungual-digito-palmar syndrome
OrphaCode: 69082
DisorderType: Malformation syndrome
Name: Ectodermal dysplasia with natal teeth, Turnpenny type
OrphaCode: 69083
DisorderType: Malformation syndrome
Name: Pure hair and nail ectodermal dysplasia
OrphaCode: 69084
DisorderType: Malformation syndrome
Name: Naegeli-Franceschetti-Jadassohn syndrome
OrphaCode: 69087
DisorderType: Disease
Name: Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome
OrphaCode: 69088
DisorderType: Disease
Name: Anonychia with flexural pigmentation
OrphaCode: 69125
DisorderType: Malformation syndrome
Name: Trichodysplasia-amelogenesis imperfecta syndrome
OrphaCode: 79129
DisorderType: Malformation syndrome
Name: Dermatopathia pigmentosa reticularis
OrphaCode: 86920
DisorderType: Disease
Name: EEC syndrome and related disorders
OrphaCode: 98609
DisorderType: Category
Children: Name: ADULT syndrome
OrphaCode: 978
DisorderType: Malformation syndrome
Name: EEC syndrome
OrphaCode: 1896
DisorderType: Malformation syndrome
Name: Lacrimoauriculodentodigital syndrome
OrphaCode: 2363
DisorderType: Malformation syndrome
Name: Limb-mammary syndrome
OrphaCode: 69085
DisorderType: Malformation syndrome
Name: Fried's tooth and nail syndrome
OrphaCode: 99672
DisorderType: Malformation syndrome
Name: Dermotrichic syndrome
OrphaCode: 99688
DisorderType: Malformation syndrome
Name: Lelis syndrome
OrphaCode: 140936
DisorderType: Malformation syndrome
Name: Ectodermal dysplasia-skin fragility syndrome
OrphaCode: 158668
DisorderType: Disease
Name: Hypohidrotic ectodermal dysplasia
OrphaCode: 238468
DisorderType: Disease
Children: Name: X-linked hypohidrotic ectodermal dysplasia
OrphaCode: 181
DisorderType: Etiological subtype
Name: Autosomal recessive hypohidrotic ectodermal dysplasia
OrphaCode: 248
DisorderType: Etiological subtype
Name: Autosomal dominant hypohidrotic ectodermal dysplasia
OrphaCode: 1810
DisorderType: Etiological subtype
Name: Ectodermal dysplasia-pili torti-cutaneous syndactyly syndrome
OrphaCode: 247820
DisorderType: Malformation syndrome
Name: Ectodermal dysplasia-hyperhidrosis-cutaneous syndactyly syndrome
OrphaCode: 247827
DisorderType: Malformation syndrome
Name: Curly hair-acral keratoderma-caries syndrome
OrphaCode: 307766
DisorderType: Disease
Name: Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome
OrphaCode: 307936
DisorderType: Disease
Name: Chondroectodermal dysplasia with night blindness
OrphaCode: 319195
DisorderType: Disease
Name: Cleft lip/palate-ectodermal dysplasia syndrome
OrphaCode: 3253
DisorderType: Malformation syndrome
Name: Trichorhinophalangeal syndrome
OrphaCode: 324764
DisorderType: Clinical group
Children: Name: Trichorhinophalangeal syndrome type 2
OrphaCode: 502
DisorderType: Malformation syndrome
Name: Trichorhinophalangeal syndrome type 1
OrphaCode: 77258
DisorderType: Malformation syndrome
Name: Focal facial dermal dysplasia
OrphaCode: 398166
DisorderType: Malformation syndrome
Children: Name: Focal facial dermal dysplasia type III
OrphaCode: 1807
DisorderType: Clinical subtype
Name: Focal facial dermal dysplasia type I
OrphaCode: 79133
DisorderType: Clinical subtype
Name: Focal facial dermal dysplasia type II
OrphaCode: 398173
DisorderType: Clinical subtype
Name: Focal facial dermal dysplasia type IV
OrphaCode: 398189
DisorderType: Clinical subtype
Name: Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome
OrphaCode: 423454
DisorderType: Disease
Name: CHAND syndrome
OrphaCode: 1401
DisorderType: Malformation syndrome
Name: Hallermann-Streiff-like syndrome
OrphaCode: 2109
DisorderType: Malformation syndrome
Name: Skin fragility-woolly hair-palmoplantar keratoderma syndrome
OrphaCode: 293165
DisorderType: Disease
Name: Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome
OrphaCode: 447961
DisorderType: Disease
Name: Hypotrichosis-intellectual disability, Lopes type
OrphaCode: 2266
DisorderType: Disease
Name: Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies
OrphaCode: 589608
DisorderType: Disease
Name: Hypohidrotic ectodermal dysplasia with immunodeficiency
OrphaCode: 98813
DisorderType: Disease
Name: Isolated hyperchlorhidrosis
OrphaCode: 542657
DisorderType: Disease
Name: Pigmentation anomaly of the skin
OrphaCode: 79374
DisorderType: Category
Children: Name: Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome
OrphaCode: 2435
DisorderType: Disease
Name: Hyperpigmentation of the skin
OrphaCode: 79375
DisorderType: Category
Children: Name: Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome
OrphaCode: 508512
DisorderType: Disease
Name: X-linked reticulate pigmentary disorder
OrphaCode: 85453
DisorderType: Disease
Name: Neurofibromatosis type 1
OrphaCode: 636
DisorderType: Disease
Children: Name: 17q11 microdeletion syndrome
OrphaCode: 97685
DisorderType: Clinical subtype
Name: Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion
OrphaCode: 363700
DisorderType: Etiological subtype
Name: Peutz-Jeghers syndrome
OrphaCode: 2869
DisorderType: Disease
Name: McCune-Albright syndrome
OrphaCode: 562
DisorderType: Disease
Name: Dyskeratosis congenita
OrphaCode: 1775
DisorderType: Disease
Name: Fanconi anemia
OrphaCode: 84
DisorderType: Malformation syndrome
Name: Neurofibromatosis-Noonan syndrome
OrphaCode: 638
DisorderType: Malformation syndrome
Name: Noonan syndrome with multiple lentigines
OrphaCode: 500
DisorderType: Malformation syndrome
Name: Hyperkeratosis-hyperpigmentation syndrome
OrphaCode: 1336
DisorderType: Disease
Name: Gastrocutaneous syndrome
OrphaCode: 2069
DisorderType: Disease
Name: Moynahan syndrome
OrphaCode: 2574
DisorderType: Malformation syndrome
Name: Carney complex
OrphaCode: 1359
DisorderType: Disease
Name: Familial isolated café-au-lait macules
OrphaCode: 2678
DisorderType: Malformation syndrome
Name: Osteopathia striata-pigmentary dermopathy-white forelock syndrome
OrphaCode: 2779
DisorderType: Malformation syndrome
Name: Phakomatosis pigmentovascularis
OrphaCode: 2875
DisorderType: Disease
Children: Name: Phakomatosis cesioflammea
OrphaCode: 79483
DisorderType: Clinical subtype
Name: Phakomatosis cesiomarmorata
OrphaCode: 79484
DisorderType: Clinical subtype
Name: Phakomatosis spilorosea
OrphaCode: 79485
DisorderType: Clinical subtype
Name: Acromelanosis
OrphaCode: 39
DisorderType: Disease
Name: Dyschromatosis symmetrica hereditaria
OrphaCode: 41
DisorderType: Disease
Name: Dyschromatosis universalis hereditaria
OrphaCode: 241
DisorderType: Disease
Name: Neuroectodermal melanolysosomal disease
OrphaCode: 33445
DisorderType: Malformation syndrome
Name: Naegeli-Franceschetti-Jadassohn syndrome
OrphaCode: 69087
DisorderType: Disease
Name: Dowling-Degos disease
OrphaCode: 79145
DisorderType: Disease
Name: Familial progressive hyperpigmentation
OrphaCode: 79146
DisorderType: Disease
Name: Linear and whorled nevoid hypermelanosis
OrphaCode: 79150
DisorderType: Disease
Name: Dermatopathia pigmentosa reticularis
OrphaCode: 86920
DisorderType: Disease
Name: Terminal osseous dysplasia-pigmentary defects syndrome
OrphaCode: 88630
DisorderType: Malformation syndrome
Name: Full schwannomatosis
OrphaCode: 93921
DisorderType: Disease
Name: Legius syndrome
OrphaCode: 137605
DisorderType: Malformation syndrome
Name: H syndrome
OrphaCode: 168569
DisorderType: Malformation syndrome
Name: Reticulate acropigmentation of Kitamura
OrphaCode: 178307
DisorderType: Disease
Name: Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome
OrphaCode: 210133
DisorderType: Disease
Name: Familial generalized lentiginosis
OrphaCode: 231040
DisorderType: Disease
Name: Carney complex-trismus-pseudocamptodactyly syndrome
OrphaCode: 319340
DisorderType: Disease
Name: Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome
OrphaCode: 423454
DisorderType: Disease
Name: Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome
OrphaCode: 488627
DisorderType: Malformation syndrome
Name: Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome
OrphaCode: 1964
DisorderType: Malformation syndrome
Name: Mosaic Legius syndrome
OrphaCode: 634511
DisorderType: Disease
Name: Hypopigmentation of the skin
OrphaCode: 79376
DisorderType: Category
Children: Name: Albinism-deafness syndrome
OrphaCode: 998
DisorderType: Malformation syndrome
Name: Oculocutaneous albinism
OrphaCode: 55
DisorderType: Clinical group
Children: Name: Oculocutaneous albinism type 2
OrphaCode: 79432
DisorderType: Disease
Name: Oculocutaneous albinism type 3
OrphaCode: 79433
DisorderType: Disease
Name: Oculocutaneous albinism type 4
OrphaCode: 79435
DisorderType: Disease
Name: Oculocutaneous albinism type 1
OrphaCode: 352731
DisorderType: Disease
Children: Name: Oculocutaneous albinism type 1A
OrphaCode: 79431
DisorderType: Clinical subtype
Name: Oculocutaneous albinism type 1B
OrphaCode: 79434
DisorderType: Clinical subtype
Name: Minimal pigment oculocutaneous albinism type 1
OrphaCode: 352734
DisorderType: Clinical subtype
Name: Temperature-sensitive oculocutaneous albinism type 1
OrphaCode: 352737
DisorderType: Clinical subtype
Name: Oculocutaneous albinism type 7
OrphaCode: 352745
DisorderType: Disease
Name: Oculocutaneous albinism type 5
OrphaCode: 370091
DisorderType: Disease
Name: Oculocutaneous albinism type 6
OrphaCode: 370097
DisorderType: Disease
Name: Oculocutaneous albinism type 8
OrphaCode: 597733
DisorderType: Disease
Name: Waardenburg syndrome
OrphaCode: 3440
DisorderType: Disease
Children: Name: Waardenburg syndrome type 1
OrphaCode: 894
DisorderType: Clinical subtype
Name: Waardenburg syndrome type 2
OrphaCode: 895
DisorderType: Clinical subtype
Name: Waardenburg syndrome type 3
OrphaCode: 896
DisorderType: Clinical subtype
Name: Waardenburg-Shah syndrome
OrphaCode: 897
DisorderType: Disease
Name: Vici syndrome
OrphaCode: 1493
DisorderType: Malformation syndrome
Name: Piebaldism
OrphaCode: 2884
DisorderType: Disease
Name: Piebald trait-neurologic defects syndrome
OrphaCode: 2885
DisorderType: Malformation syndrome
Name: Deaf blind hypopigmentation syndrome, Yemenite type
OrphaCode: 3214
DisorderType: Malformation syndrome
Name: Tietz syndrome
OrphaCode: 42665
DisorderType: Malformation syndrome
Name: Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease
OrphaCode: 163746
DisorderType: Disease
Name: Syndromic oculocutaneous albinism
OrphaCode: 284811
DisorderType: Category
Children: Name: Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome
OrphaCode: 603494
DisorderType: Malformation syndrome
Name: Chédiak-Higashi syndrome
OrphaCode: 167
DisorderType: Disease
Name: Griscelli syndrome
OrphaCode: 381
DisorderType: Disease
Children: Name: Griscelli syndrome type 1
OrphaCode: 79476
DisorderType: Clinical subtype
Name: Griscelli syndrome type 2
OrphaCode: 79477
DisorderType: Clinical subtype
Name: Griscelli syndrome type 3
OrphaCode: 79478
DisorderType: Clinical subtype
Name: Oculocerebral hypopigmentation syndrome, Cross type
OrphaCode: 2719
DisorderType: Malformation syndrome
Name: Hermansky-Pudlak syndrome
OrphaCode: 79430
DisorderType: Disease
Children: Name: Hermansky-Pudlak syndrome due to AP-3 deficiency
OrphaCode: 183678
DisorderType: Clinical subtype
Children: Name: Hermansky-Pudlak syndrome due to AP3B1 deficiency
OrphaCode: 664500
DisorderType: Clinical subtype
Name: Early-onset severe Hermansky-Pudlak syndrome with hearing loss, due to AP3D1 deficiency
OrphaCode: 664511
DisorderType: Clinical subtype
Name: Hermansky-Pudlak syndrome due to BLOC-3 deficiency
OrphaCode: 231500
DisorderType: Clinical subtype
Name: Hermansky-Pudlak syndrome due to BLOC-2 deficiency
OrphaCode: 231512
DisorderType: Clinical subtype
Name: Hermansky-Pudlak syndrome due to BLOC-1 deficiency
OrphaCode: 231531
DisorderType: Clinical subtype
Name: Oculocerebral hypopigmentation syndrome, Preus type
OrphaCode: 2720
DisorderType: Malformation syndrome
Name: Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies
OrphaCode: 589608
DisorderType: Disease
Name: Familial progressive hyper- and hypopigmentation
OrphaCode: 280628
DisorderType: Disease
Name: Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome
OrphaCode: 447961
DisorderType: Disease
Name: Dermis disorder
OrphaCode: 79377
DisorderType: Category
Children: Name: Dermis elastic tissue disorder
OrphaCode: 79378
DisorderType: Category
Children: Name: Genetic dermis elastic tissue disorder
OrphaCode: 228215
DisorderType: Category
Children: Name: Ehlers-Danlos/osteogenesis imperfecta syndrome
OrphaCode: 230857
DisorderType: Disease
Name: Costello syndrome
OrphaCode: 3071
DisorderType: Malformation syndrome
Name: Cutis laxa
OrphaCode: 209
DisorderType: Clinical group
Children: Name: Geroderma osteodysplastica
OrphaCode: 2078
DisorderType: Malformation syndrome
Name: De Barsy syndrome
OrphaCode: 2962
DisorderType: Disease
Children: Name: ALDH18A1-related De Barsy syndrome
OrphaCode: 35664
DisorderType: Etiological subtype
Name: PYCR1-related De Barsy syndrome
OrphaCode: 293633
DisorderType: Etiological subtype
Name: SCARF syndrome
OrphaCode: 3134
DisorderType: Malformation syndrome
Name: Arterial tortuosity syndrome
OrphaCode: 3342
DisorderType: Malformation syndrome
Name: Occipital horn syndrome
OrphaCode: 198
DisorderType: Disease
Name: Autosomal dominant cutis laxa
OrphaCode: 90348
DisorderType: Disease
Name: Autosomal recessive cutis laxa type 1
OrphaCode: 90349
DisorderType: Disease
Name: Autosomal recessive cutis laxa type 2
OrphaCode: 90350
DisorderType: Clinical group
Children: Name: Autosomal recessive cutis laxa type 2A
OrphaCode: 357058
DisorderType: Disease
Children: Name: Wrinkly skin syndrome
OrphaCode: 2834
DisorderType: Clinical subtype
Name: Autosomal recessive cutis laxa type 2, classic type
OrphaCode: 357074
DisorderType: Clinical subtype
Name: Autosomal recessive cutis laxa type 2B
OrphaCode: 357064
DisorderType: Disease
Name: RIN2 syndrome
OrphaCode: 217335
DisorderType: Malformation syndrome
Name: Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
OrphaCode: 221145
DisorderType: Malformation syndrome
Name: Craniofaciofrontodigital syndrome
OrphaCode: 363705
DisorderType: Disease
Name: Lethal arteriopathy syndrome due to fibulin-4 deficiency
OrphaCode: 314718
DisorderType: Disease
Name: Pseudoxanthoma elasticum
OrphaCode: 758
DisorderType: Disease
Name: Familial cutaneous collagenoma
OrphaCode: 53296
DisorderType: Disease
Name: Familial reactive perforating collagenosis
OrphaCode: 79147
DisorderType: Disease
Name: Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency
OrphaCode: 91135
DisorderType: Disease
Name: Ehlers-Danlos syndrome
OrphaCode: 98249
DisorderType: Clinical group
Children: Name: Classical Ehlers-Danlos syndrome
OrphaCode: 287
DisorderType: Disease
Name: Musculocontractural Ehlers-Danlos syndrome
OrphaCode: 2953
DisorderType: Disease
Name: Hypermobile Ehlers-Danlos syndrome
OrphaCode: 285
DisorderType: Disease
Name: Vascular Ehlers-Danlos syndrome
OrphaCode: 286
DisorderType: Disease
Name: Kyphoscoliotic Ehlers-Danlos syndrome
OrphaCode: 536545
DisorderType: Disease
Children: Name: Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency
OrphaCode: 1900
DisorderType: Clinical subtype
Name: Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency
OrphaCode: 300179
DisorderType: Clinical subtype
Name: Arthrochalasia Ehlers-Danlos syndrome
OrphaCode: 1899
DisorderType: Disease
Name: Dermatosparaxis Ehlers-Danlos syndrome
OrphaCode: 1901
DisorderType: Disease
Name: Periodontal Ehlers-Danlos syndrome
OrphaCode: 75392
DisorderType: Disease
Name: Spondylodysplastic Ehlers-Danlos syndrome
OrphaCode: 536471
DisorderType: Disease
Children: Name: B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome
OrphaCode: 75496
DisorderType: Clinical subtype
Name: B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome
OrphaCode: 536467
DisorderType: Clinical subtype
Name: SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome
OrphaCode: 157965
DisorderType: Clinical subtype
Name: X-linked Ehlers-Danlos syndrome
OrphaCode: 75497
DisorderType: Disease
Name: Brittle cornea syndrome
OrphaCode: 90354
DisorderType: Disease
Name: Myopathic Ehlers-Danlos syndrome
OrphaCode: 536516
DisorderType: Disease
Name: Classical-like Ehlers-Danlos syndrome type 1
OrphaCode: 230839
DisorderType: Disease
Name: Cardiac-valvular Ehlers-Danlos syndrome
OrphaCode: 230851
DisorderType: Disease
Name: Classical-like Ehlers-Danlos syndrome type 2
OrphaCode: 536532
DisorderType: Disease
Name: Vascular Ehlers-Danlos-polymicrogyria syndrome
OrphaCode: 636941
DisorderType: Disease
Name: Familial anetoderma
OrphaCode: 228277
DisorderType: Disease
Name: Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa
OrphaCode: 436274
DisorderType: Disease
Name: Dermatoleukodystrophy
OrphaCode: 1659
DisorderType: Disease
Name: Familial articular hypermobility syndrome
OrphaCode: 2295
DisorderType: Disease
Name: Acquired dermis elastic tissue disorder
OrphaCode: 228218
DisorderType: Category
Children: Name: Grisel syndrome
OrphaCode: 662255
DisorderType: Clinical syndrome
Name: Acquired dermis elastic tissue disorder with decreased elastic tissue
OrphaCode: 228221
DisorderType: Category
Children: Name: Papular elastorrhexis
OrphaCode: 228264
DisorderType: Disease
Name: Primary anetoderma
OrphaCode: 228272
DisorderType: Disease
Name: Acquired cutis laxa
OrphaCode: 228285
DisorderType: Disease
Name: White fibrous papulosis of the neck
OrphaCode: 228290
DisorderType: Disease
Name: Pseudoxanthoma elasticum-like papillary dermal elastolysis
OrphaCode: 228293
DisorderType: Disease
Name: Mid-dermal elastolysis
OrphaCode: 228299
DisorderType: Disease
Name: Confetti-like macular atrophy
OrphaCode: 221142
DisorderType: Disease
Name: Acquired dermis elastic tissue disorder with increased elastic tissue
OrphaCode: 228224
DisorderType: Category
Children: Name: Acrokeratoelastoidosis of Costa
OrphaCode: 38
DisorderType: Disease
Name: Elastosis perforans serpiginosa
OrphaCode: 79148
DisorderType: Disease
Name: Late-onset focal dermal elastosis
OrphaCode: 228227
DisorderType: Disease
Name: Linear focal elastosis
OrphaCode: 228236
DisorderType: Disease
Name: Elastoderma
OrphaCode: 228240
DisorderType: Disease
Name: Elastofibroma dorsi
OrphaCode: 228243
DisorderType: Disease
Name: Acquired pseudoxanthoma elasticum
OrphaCode: 228247
DisorderType: Disease
Name: Elastoma
OrphaCode: 228254
DisorderType: Disease
Name: Skin vascular disease
OrphaCode: 79379
DisorderType: Category
Children: Name: Familial Chilblain lupus
OrphaCode: 481662
DisorderType: Disease
Name: Fabry disease
OrphaCode: 324
DisorderType: Disease
Name: Ataxia-telangiectasia
OrphaCode: 100
DisorderType: Disease
Name: Hereditary hemorrhagic telangiectasia
OrphaCode: 774
DisorderType: Disease
Name: Blue rubber bleb nevus
OrphaCode: 1059
DisorderType: Malformation syndrome
Name: Cutis marmorata telangiectatica congenita
OrphaCode: 1556
DisorderType: Malformation syndrome
Name: Angioosteohypertrophic syndrome
OrphaCode: 2346
DisorderType: Clinical group
Children: Name: Parkes Weber syndrome
OrphaCode: 90307
DisorderType: Disease
Name: Klippel-Trénaunay syndrome
OrphaCode: 90308
DisorderType: Disease
Name: Sturge-Weber syndrome
OrphaCode: 3205
DisorderType: Malformation syndrome
Name: Familial multiple nevi flammei
OrphaCode: 624
DisorderType: Morphological anomaly
Name: Wyburn-Mason syndrome
OrphaCode: 53719
DisorderType: Malformation syndrome
Name: Spinal arteriovenous metameric syndrome
OrphaCode: 53721
DisorderType: Malformation syndrome
Name: Megalencephaly-capillary malformation-polymicrogyria syndrome
OrphaCode: 60040
DisorderType: Malformation syndrome
Name: Chilblain lupus
OrphaCode: 90280
DisorderType: Disease
Name: Angioma serpiginosum
OrphaCode: 95429
DisorderType: Disease
Name: Maffucci syndrome
OrphaCode: 163634
DisorderType: Disease
Name: Bockenheimer syndrome
OrphaCode: 217008
DisorderType: Malformation syndrome
Name: Ataxia-telangiectasia-like disorder
OrphaCode: 251347
DisorderType: Disease
Name: Calciphylaxis cutis
OrphaCode: 280065
DisorderType: Clinical subtype
Name: Generalized essential telangiectasia
OrphaCode: 280774
DisorderType: Disease
Name: Cutaneous collagenous vasculopathy
OrphaCode: 280779
DisorderType: Disease
Name: Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome
OrphaCode: 313846
DisorderType: Disease
Name: Livedoid vasculopathy
OrphaCode: 542643
DisorderType: Clinical syndrome
Name: Atrophic papulosis
OrphaCode: 656071
DisorderType: Disease
Children: Name: Benign atrophic papulosis
OrphaCode: 656085
DisorderType: Clinical subtype
Name: Malignant atrophic papulosis
OrphaCode: 679
DisorderType: Clinical subtype
Name: Mixed dermis disorder
OrphaCode: 79380
DisorderType: Category
Children: Name: Tuberous sclerosis complex
OrphaCode: 805
DisorderType: Disease
Name: Adams-Oliver syndrome
OrphaCode: 974
DisorderType: Malformation syndrome
Name: Scalp defects-postaxial polydactyly syndrome
OrphaCode: 1003
DisorderType: Malformation syndrome
Name: Aplasia cutis congenita-intestinal lymphangiectasia syndrome
OrphaCode: 1116
DisorderType: Disease
Name: Aplasia cutis-myopia syndrome
OrphaCode: 1117
DisorderType: Disease
Name: Scalp-ear-nipple syndrome
OrphaCode: 2036
DisorderType: Malformation syndrome
Name: Focal dermal hypoplasia
OrphaCode: 2092
DisorderType: Malformation syndrome
Name: Microphthalmia with linear skin defects syndrome
OrphaCode: 2556
DisorderType: Malformation syndrome
Name: Aplasia cutis congenita
OrphaCode: 1114
DisorderType: Malformation syndrome
Name: Other dermis disorder
OrphaCode: 79381
DisorderType: Category
Children: Name: Familial dysautonomia
OrphaCode: 1764
DisorderType: Disease
Name: Pseudohypoparathyroidism with Albright hereditary osteodystrophy
OrphaCode: 457059
DisorderType: Clinical group
Children: Name: Pseudohypoparathyroidism type 1A
OrphaCode: 79443
DisorderType: Disease
Name: Pseudohypoparathyroidism type 1C
OrphaCode: 79444
DisorderType: Disease
Name: Pseudopseudohypoparathyroidism
OrphaCode: 79445
DisorderType: Disease
Name: Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome
OrphaCode: 1555
DisorderType: Malformation syndrome
Name: Juvenile hyaline fibromatosis
OrphaCode: 2028
DisorderType: Clinical subtype
Name: Progressive osseous heteroplasia
OrphaCode: 2762
DisorderType: Malformation syndrome
Name: Pachydermoperiostosis
OrphaCode: 2796
DisorderType: Malformation syndrome
Name: Antecubital pterygium syndrome
OrphaCode: 2987
DisorderType: Malformation syndrome
Name: Primary cutis verticis gyrata
OrphaCode: 671
DisorderType: Clinical group
Children: Name: Primary essential cutis verticis gyrata
OrphaCode: 357220
DisorderType: Disease
Name: Primary non-essential cutis verticis gyrata
OrphaCode: 357225
DisorderType: Disease
Name: Lipoid proteinosis
OrphaCode: 530
DisorderType: Malformation syndrome
Name: Dermochondrocorneal dystrophy
OrphaCode: 79149
DisorderType: Disease
Name: Blau syndrome
OrphaCode: 90340
DisorderType: Disease
Name: Primary cutaneous amyloidosis
OrphaCode: 137807
DisorderType: Clinical group
Children: Name: Lichen amyloidosis
OrphaCode: 49804
DisorderType: Disease
Name: Nodular cutaneous amyloidosis
OrphaCode: 137810
DisorderType: Disease
Name: Macular amyloidosis
OrphaCode: 137814
DisorderType: Disease
Name: Amyloidosis cutis dyschromia
OrphaCode: 319635
DisorderType: Disease
Name: Familial primary localized cutaneous amyloidosis
OrphaCode: 353220
DisorderType: Disease
Name: Lichen myxedematosus
OrphaCode: 402007
DisorderType: Clinical group
Children: Name: Localized lichen myxedematosus
OrphaCode: 86795
DisorderType: Clinical group
Children: Name: Nodular lichen myxedematosus
OrphaCode: 90393
DisorderType: Disease
Name: Discrete papular lichen myxedematosus
OrphaCode: 90394
DisorderType: Disease
Name: Papular mucinosis of infancy
OrphaCode: 90395
DisorderType: Disease
Name: Acral persistent papular mucinosis
OrphaCode: 90396
DisorderType: Disease
Name: Self-healing papular mucinosis
OrphaCode: 90397
DisorderType: Disease
Name: Atypical lichen myxedematosus
OrphaCode: 86797
DisorderType: Disease
Children: Name: Localized lichen myxedematosus with mixed features of different subtypes
OrphaCode: 90398
DisorderType: Clinical subtype
Name: Localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms
OrphaCode: 90399
DisorderType: Clinical subtype
Name: Scleromyxedema without monoclonal gammopathy
OrphaCode: 90400
DisorderType: Clinical subtype
Name: Scleromyxedema
OrphaCode: 167635
DisorderType: Disease
Name: Necrobiosis lipoidica
OrphaCode: 542592
DisorderType: Disease
Name: Isolated generalized anhidrosis with normal sweat glands
OrphaCode: 468666
DisorderType: Disease
Name: Linear atrophoderma of Moulin
OrphaCode: 140933
DisorderType: Disease
Name: Atrophoderma of Pasini and Pierini
OrphaCode: 658810
DisorderType: Disease
Name: Partial deep dermal and full thickness burns
OrphaCode: 90076
DisorderType: Particular clinical situation in a disease or syndrome
Name: Subcutaneous tissue disease
OrphaCode: 79382
DisorderType: Category
Children: Name: Farber disease
OrphaCode: 333
DisorderType: Disease
Name: Fibrodysplasia ossificans progressiva
OrphaCode: 337
DisorderType: Disease
Name: Cerebrotendinous xanthomatosis
OrphaCode: 909
DisorderType: Disease
Name: Multiple symmetric lipomatosis
OrphaCode: 2398
DisorderType: Disease
Name: Encephalocraniocutaneous lipomatosis
OrphaCode: 2396
DisorderType: Disease
Name: Roch-Leri mesosomatous lipomatosis
OrphaCode: 529
DisorderType: Disease
Name: Dissecting cellulitis of the scalp
OrphaCode: 345
DisorderType: Disease
Name: Nodular non-suppurative panniculitis
OrphaCode: 33577
DisorderType: Disease
Name: Adiposis dolorosa
OrphaCode: 36397
DisorderType: Disease
Name: Primary lipodystrophy
OrphaCode: 90970
DisorderType: Category
Children: Name: Genetic lipodystrophy
OrphaCode: 98305
DisorderType: Category
Children: Name: Congenital generalized lipodystrophy
OrphaCode: 528
DisorderType: Disease
Name: Lipodystrophy due to peptidic growth factors deficiency
OrphaCode: 1979
DisorderType: Disease
Name: Mandibuloacral dysplasia
OrphaCode: 2457
DisorderType: Malformation syndrome
Children: Name: Mandibuloacral dysplasia with type A lipodystrophy
OrphaCode: 90153
DisorderType: Clinical subtype
Name: Mandibuloacral dysplasia with type B lipodystrophy
OrphaCode: 90154
DisorderType: Clinical subtype
Name: SHORT syndrome
OrphaCode: 3163
DisorderType: Malformation syndrome
Name: Wiedemann-Rautenstrauch syndrome
OrphaCode: 3455
DisorderType: Malformation syndrome
Name: Lipodystrophy-intellectual disability-deafness syndrome
OrphaCode: 50811
DisorderType: Disease
Name: Familial partial lipodystrophy
OrphaCode: 98306
DisorderType: Clinical group
Children: Name: Familial partial lipodystrophy, Dunnigan type
OrphaCode: 2348
DisorderType: Disease
Name: PPARG-related familial partial lipodystrophy
OrphaCode: 79083
DisorderType: Disease
Name: Familial partial lipodystrophy, Köbberling type
OrphaCode: 79084
DisorderType: Disease
Name: AKT2-related familial partial lipodystrophy
OrphaCode: 79085
DisorderType: Disease
Name: PLIN1-related familial partial lipodystrophy
OrphaCode: 280356
DisorderType: Disease
Name: Autosomal semi-dominant severe lipodystrophic laminopathy
OrphaCode: 280365
DisorderType: Disease
Name: CIDEC-related familial partial lipodystrophy
OrphaCode: 435651
DisorderType: Disease
Name: LIPE-related familial partial lipodystrophy
OrphaCode: 435660
DisorderType: Disease
Name: Severe neurodegenerative syndrome with lipodystrophy
OrphaCode: 363400
DisorderType: Disease
Name: Keppen-Lubinsky syndrome
OrphaCode: 435628
DisorderType: Malformation syndrome
Name: Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome
OrphaCode: 363649
DisorderType: Disease
Name: Proteasome-associated autoinflammatory syndrome
OrphaCode: 324977
DisorderType: Disease
Name: Nestor-Guillermo progeria syndrome
OrphaCode: 280576
DisorderType: Malformation syndrome
Name: Acquired lipodystrophy
OrphaCode: 98307
DisorderType: Category
Children: Name: Acquired generalized lipodystrophy
OrphaCode: 79086
DisorderType: Disease
Name: Acquired partial lipodystrophy
OrphaCode: 79087
DisorderType: Disease
Name: Localized lipodystrophy
OrphaCode: 79088
DisorderType: Clinical group
Children: Name: Centrifugal lipodystrophy
OrphaCode: 90156
DisorderType: Disease
Name: Drug-induced localized lipodystrophy
OrphaCode: 90157
DisorderType: Disease
Name: Idiopathic localized lipodystrophy
OrphaCode: 90158
DisorderType: Disease
Name: Panniculitis-induced localized lipodystrophy
OrphaCode: 90159
DisorderType: Disease
Name: Pressure-induced localized lipoatrophy
OrphaCode: 90160
DisorderType: Disease
Name: Cytophagic histiocytic panniculitis
OrphaCode: 94087
DisorderType: Disease
Name: CLOVES syndrome
OrphaCode: 140944
DisorderType: Malformation syndrome
Name: Familial multiple lipomatosis
OrphaCode: 199276
DisorderType: Disease
Name: Familial angiolipomatosis
OrphaCode: 199279
DisorderType: Disease
Name: Isolated generalized anhidrosis with normal sweat glands
OrphaCode: 468666
DisorderType: Disease
Name: Nodular fasciitis
OrphaCode: 477742
DisorderType: Disease
Name: Alacrimia-choreoathetosis-liver dysfunction syndrome
OrphaCode: 404454
DisorderType: Disease
Name: Primary lymphedema
OrphaCode: 77240
DisorderType: Category
Children: Name: Primary lymphedema without systemic or visceral involvement
OrphaCode: 568041
DisorderType: Category
Children: Name: Congenital primary lymphedema without systemic or visceral involvement
OrphaCode: 2416
DisorderType: Clinical group
Children: Name: Amniotic band syndrome
OrphaCode: 295000
DisorderType: Malformation syndrome
Name: Microcephaly-lymphedema-chorioretinopathy syndrome
OrphaCode: 2526
DisorderType: Malformation syndrome
Name: Congenital primary lymphedema of Gordon
OrphaCode: 569821
DisorderType: Disease
Name: Milroy disease
OrphaCode: 79452
DisorderType: Disease
Name: German syndrome
OrphaCode: 2077
DisorderType: Malformation syndrome
Name: Late-onset primary lymphedema without systemic or visceral involvement
OrphaCode: 289825
DisorderType: Clinical group
Children: Name: GJC2-related late-onset primary lymphedema
OrphaCode: 568051
DisorderType: Disease
Name: CELSR1-related late-onset primary lymphedema
OrphaCode: 569816
DisorderType: Disease
Name: Cholestasis-lymphedema syndrome
OrphaCode: 1414
DisorderType: Disease
Name: Lymphedema-distichiasis syndrome
OrphaCode: 33001
DisorderType: Malformation syndrome
Name: Meige disease
OrphaCode: 90186
DisorderType: Disease
Name: Lymphedema-posterior choanal atresia syndrome
OrphaCode: 99141
DisorderType: Malformation syndrome
Name: Primary lymphedema with systemic or visceral involvement
OrphaCode: 568044
DisorderType: Category
Children: Name: Dahlberg-Borer-Newcomer syndrome
OrphaCode: 1563
DisorderType: Malformation syndrome
Name: PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis
OrphaCode: 568062
DisorderType: Disease
Name: Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome
OrphaCode: 568056
DisorderType: Disease
Name: EPHB4-related lymphatic-related hydrops fetalis
OrphaCode: 568065
DisorderType: Disease
Name: Aplasia cutis congenita-intestinal lymphangiectasia syndrome
OrphaCode: 1116
DisorderType: Disease
Name: Hennekam syndrome
OrphaCode: 2136
DisorderType: Malformation syndrome
Name: Yellow nail syndrome
OrphaCode: 662
DisorderType: Disease
Name: Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
OrphaCode: 69735
DisorderType: Disease
Name: Lymphedema-atrial septal defects-facial changes syndrome
OrphaCode: 86915
DisorderType: Malformation syndrome
Name: Disorder with multisystemic involvement and primary lymphedema
OrphaCode: 568047
DisorderType: Category
Children: Name: Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome
OrphaCode: 69088
DisorderType: Disease
Name: PEHO syndrome
OrphaCode: 2836
DisorderType: Disease
Name: Müllerian derivatives-lymphangiectasia-polydactyly syndrome
OrphaCode: 1655
DisorderType: Malformation syndrome
Name: Takenouchi-Kosaki syndrome
OrphaCode: 487796
DisorderType: Malformation syndrome
Name: Phelan-McDermid syndrome
OrphaCode: 48652
DisorderType: Malformation syndrome
Children: Name: Phelan-McDermid syndrome due to SHANK3 mutation
OrphaCode: 662172
DisorderType: Etiological subtype
Name: Phelan-McDermid syndrome due to 22q13.3 deletion
OrphaCode: 662169
DisorderType: Etiological subtype
Name: Fabry disease
OrphaCode: 324
DisorderType: Disease
Name: Noonan syndrome
OrphaCode: 648
DisorderType: Malformation syndrome
Name: PEHO-like syndrome
OrphaCode: 99807
DisorderType: Disease
Name: Tuberous sclerosis complex
OrphaCode: 805
DisorderType: Disease
Name: Turner syndrome
OrphaCode: 881
DisorderType: Malformation syndrome
Children: Name: Turner syndrome due to structural X chromosome anomalies
OrphaCode: 99413
DisorderType: Etiological subtype
Name: Mosaic monosomy X
OrphaCode: 99228
DisorderType: Etiological subtype
Name: Monosomy X
OrphaCode: 99226
DisorderType: Etiological subtype
Name: Cardiofaciocutaneous syndrome
OrphaCode: 1340
DisorderType: Malformation syndrome
Name: Oculodentodigital dysplasia
OrphaCode: 2710
DisorderType: Malformation syndrome
Name: Prolidase deficiency
OrphaCode: 742
DisorderType: Disease
Name: Rare urticaria
OrphaCode: 79384
DisorderType: Category
Children: Name: Melkersson-Rosenthal syndrome
OrphaCode: 2483
DisorderType: Malformation syndrome
Name: Pruritic urticarial papules and plaques of pregnancy
OrphaCode: 64745
DisorderType: Disease
Name: Vibratory urticaria
OrphaCode: 493342
DisorderType: Disease
Name: Unclassified genetic skin disorder
OrphaCode: 79385
DisorderType: Category
Children: Name: Congenital lethal erythroderma
OrphaCode: 1954
DisorderType: Disease
Name: Multiple benign circumferential skin creases on limbs
OrphaCode: 2505
DisorderType: Disease
Name: Parana hard skin syndrome
OrphaCode: 2812
DisorderType: Disease
Name: Stiff skin syndrome
OrphaCode: 2833
DisorderType: Disease
Name: LUMBAR syndrome
OrphaCode: 83628
DisorderType: Malformation syndrome
Name: Erythema palmare hereditarium
OrphaCode: 231031
DisorderType: Disease
Name: Rare skin tumor or hamartoma
OrphaCode: 79386
DisorderType: Category
Children: Name: Neurofibromatosis type 1
OrphaCode: 636
DisorderType: Disease
Children: Name: 17q11 microdeletion syndrome
OrphaCode: 97685
DisorderType: Clinical subtype
Name: Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion
OrphaCode: 363700
DisorderType: Etiological subtype
Name: Gorlin syndrome
OrphaCode: 377
DisorderType: Malformation syndrome
Name: Tuberous sclerosis complex
OrphaCode: 805
DisorderType: Disease
Name: Neurofibromatosis-Noonan syndrome
OrphaCode: 638
DisorderType: Malformation syndrome
Name: Bazex-Dupré-Christol syndrome
OrphaCode: 113
DisorderType: Disease
Name: Rombo syndrome
OrphaCode: 3110
DisorderType: Disease
Name: Primary cutaneous lymphoma
OrphaCode: 542
DisorderType: Category
Children: Name: Primary cutaneous T-cell lymphoma
OrphaCode: 171901
DisorderType: Category
Children: Name: Indolent primary cutaneous T-cell lymphoma
OrphaCode: 178548
DisorderType: Clinical group
Children: Name: Primary cutaneous CD30+ T-cell lymphoproliferative disease
OrphaCode: 541
DisorderType: Clinical group
Children: Name: Lymphomatoid papulosis
OrphaCode: 98842
DisorderType: Disease
Name: Primary cutaneous anaplastic large cell lymphoma
OrphaCode: 300865
DisorderType: Disease
Name: Subcutaneous panniculitis-like T-cell lymphoma
OrphaCode: 86884
DisorderType: Disease
Name: Primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma
OrphaCode: 178522
DisorderType: Disease
Name: Mycosis fungoides and variants
OrphaCode: 178566
DisorderType: Clinical group
Children: Name: Classic mycosis fungoides
OrphaCode: 2584
DisorderType: Disease
Name: Granulomatous slack skin
OrphaCode: 33111
DisorderType: Disease
Name: Folliculotropic mycosis fungoides
OrphaCode: 178512
DisorderType: Disease
Name: Localized pagetoid reticulosis
OrphaCode: 178517
DisorderType: Disease
Name: Aggressive primary cutaneous T-cell lymphoma
OrphaCode: 178551
DisorderType: Clinical group
Children: Name: Sézary syndrome
OrphaCode: 3162
DisorderType: Disease
Name: Adult T-cell leukemia/lymphoma
OrphaCode: 86875
DisorderType: Disease
Name: Extranodal nasal NK/T cell lymphoma
OrphaCode: 86879
DisorderType: Disease
Name: Primary cutaneous peripheral T-cell lymphoma not otherwise specified
OrphaCode: 86885
DisorderType: Disease
Name: Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma
OrphaCode: 178528
DisorderType: Disease
Name: Primary cutaneous gamma/delta-positive T-cell lymphoma
OrphaCode: 178533
DisorderType: Disease
Name: Primary cutaneous B-cell lymphoma
OrphaCode: 178563
DisorderType: Category
Children: Name: Aggressive primary cutaneous B-cell lymphoma
OrphaCode: 178554
DisorderType: Clinical group
Children: Name: Primary cutaneous diffuse large B-cell lymphoma, leg type
OrphaCode: 178544
DisorderType: Disease
Name: Indolent primary cutaneous B-cell lymphoma
OrphaCode: 178557
DisorderType: Clinical group
Children: Name: Primary cutaneous marginal zone B-cell lymphoma
OrphaCode: 178536
DisorderType: Disease
Name: Primary cutaneous follicle center lymphoma
OrphaCode: 178540
DisorderType: Disease
Name: Infantile myofibromatosis
OrphaCode: 2591
DisorderType: Disease
Name: Familial melanoma
OrphaCode: 618
DisorderType: Disease
Name: Proliferating trichilemmal cyst
OrphaCode: 492
DisorderType: Disease
Name: Syringocystadenoma papilliferum
OrphaCode: 840
DisorderType: Disease
Name: Trichofolliculoma
OrphaCode: 864
DisorderType: Disease
Name: Birt-Hogg-Dubé syndrome
OrphaCode: 122
DisorderType: Malformation syndrome
Name: Familial keratoacanthoma
OrphaCode: 493
DisorderType: Disease
Name: Hereditary leiomyomatosis and renal cell cancer
OrphaCode: 523
DisorderType: Disease
Name: Dermatofibrosarcoma protuberans
OrphaCode: 31112
DisorderType: Disease
Name: Extramammary Paget disease
OrphaCode: 2800
DisorderType: Disease
Name: Familial tumoral calcinosis
OrphaCode: 53715
DisorderType: Disease
Children: Name: Familial normophosphatemic tumoral calcinosis
OrphaCode: 306658
DisorderType: Clinical subtype
Name: Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome
OrphaCode: 306661
DisorderType: Clinical subtype
Name: Multiple self-healing squamous epithelioma
OrphaCode: 65748
DisorderType: Disease
Name: Cutaneous neuroendocrine carcinoma
OrphaCode: 79140
DisorderType: Disease
Name: Brooke-Spiegler syndrome
OrphaCode: 79493
DisorderType: Disease
Children: Name: Familial cylindromatosis
OrphaCode: 211
DisorderType: Clinical subtype
Name: Familial multiple trichoepithelioma
OrphaCode: 867
DisorderType: Clinical subtype
Name: Gardner syndrome
OrphaCode: 79665
DisorderType: Clinical subtype
Name: Pilomatrixoma
OrphaCode: 91414
DisorderType: Disease
Name: Generalized basaloid follicular hamartoma syndrome
OrphaCode: 168632
DisorderType: Disease
Name: Malignant melanoma of the mucosa
OrphaCode: 168999
DisorderType: Disease
Name: Superficial fibromatosis
OrphaCode: 199257
DisorderType: Clinical group
Children: Name: Ledderhose disease
OrphaCode: 199251
DisorderType: Disease
Name: Calcifying aponeurotic fibroma
OrphaCode: 199260
DisorderType: Disease
Name: Infantile digital fibromatosis
OrphaCode: 199267
DisorderType: Disease
Name: Congenital smooth muscle hamartoma
OrphaCode: 263435
DisorderType: Disease
Name: Hemihyperplasia-multiple lipomatosis syndrome
OrphaCode: 276280
DisorderType: Malformation syndrome
Name: Rare nevus
OrphaCode: 294057
DisorderType: Category
Children: Name: Cowden syndrome
OrphaCode: 201
DisorderType: Disease
Name: Large congenital melanocytic nevus
OrphaCode: 626
DisorderType: Disease
Name: MME-related autosomal dominant Charcot Marie Tooth disease type 2
OrphaCode: 497757
DisorderType: Disease
Name: Linear nevus sebaceus syndrome
OrphaCode: 2612
DisorderType: Disease
Name: Proteus syndrome
OrphaCode: 744
DisorderType: Malformation syndrome
Name: CHILD syndrome
OrphaCode: 139
DisorderType: Disease
Name: Neurocutaneous melanocytosis
OrphaCode: 2481
DisorderType: Disease
Name: Phakomatosis pigmentokeratotica
OrphaCode: 2874
DisorderType: Malformation syndrome
Name: Proteus-like syndrome
OrphaCode: 2969
DisorderType: Disease
Name: Linear verrucous nevus syndrome
OrphaCode: 2611
DisorderType: Disease
Children: Name: Inflammatory linear verrucous epidermal nevus
OrphaCode: 79466
DisorderType: Clinical subtype
Name: Verrucous nevus
OrphaCode: 79467
DisorderType: Clinical subtype
Name: Acanthokeratolytic verrucous nevus
OrphaCode: 79468
DisorderType: Clinical subtype
Name: Epidermal nevus syndrome
OrphaCode: 35125
DisorderType: Disease
Name: Nevus comedonicus syndrome
OrphaCode: 64754
DisorderType: Disease
Name: Becker nevus syndrome
OrphaCode: 64755
DisorderType: Disease
Name: Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome
OrphaCode: 137608
DisorderType: Malformation syndrome
Name: Congenital panfollicular nevus
OrphaCode: 139414
DisorderType: Disease
Name: CLOVES syndrome
OrphaCode: 140944
DisorderType: Malformation syndrome
Name: Porokeratotic eccrine ostial and dermal duct nevus
OrphaCode: 166286
DisorderType: Disease
Name: White sponge nevus
OrphaCode: 171723
DisorderType: Disease
Name: Nevus of Ota
OrphaCode: 263425
DisorderType: Disease
Name: Nevus of Ito
OrphaCode: 263432
DisorderType: Disease
Name: PENS syndrome
OrphaCode: 313936
DisorderType: Disease
Name: Angora hair nevus
OrphaCode: 370039
DisorderType: Disease
Name: Didymosis aplasticosebacea
OrphaCode: 370046
DisorderType: Disease
Name: SCALP syndrome
OrphaCode: 370052
DisorderType: Disease
Name: NEVADA syndrome
OrphaCode: 370059
DisorderType: Disease
Name: Epidermolytic nevus
OrphaCode: 497737
DisorderType: Disease
Name: Rare nail tumor
OrphaCode: 300515
DisorderType: Category
Children: Name: Onychocytic matricoma
OrphaCode: 300504
DisorderType: Disease
Name: Onychomatricoma
OrphaCode: 300512
DisorderType: Disease
Name: PTEN hamartoma tumor syndrome
OrphaCode: 306498
DisorderType: Clinical group
Children: Name: Cowden syndrome
OrphaCode: 201
DisorderType: Disease
Name: Lhermitte-Duclos disease
OrphaCode: 65285
DisorderType: Disease
Name: Bannayan-Riley-Ruvalcaba syndrome
OrphaCode: 109
DisorderType: Malformation syndrome
Name: Proteus-like syndrome
OrphaCode: 2969
DisorderType: Disease
Name: Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome
OrphaCode: 137608
DisorderType: Malformation syndrome
Name: Familial atypical multiple mole melanoma syndrome
OrphaCode: 404560
DisorderType: Disease
Name: Generalized eruptive keratoacanthoma
OrphaCode: 411777
DisorderType: Disease
Name: Pilomatrix carcinoma
OrphaCode: 499182
DisorderType: Disease
Name: Familial multiple discoid fibromas
OrphaCode: 538756
DisorderType: Disease
Name: Angiomatoid fibrous histiocytoma
OrphaCode: 569164
DisorderType: Disease
Name: Eccrine angiomatous hamartoma
OrphaCode: 673568
DisorderType: Disease
Name: Intravascular papillary endothelial hyperplasia
OrphaCode: 673525
DisorderType: Disease
Name: Metabolic disease with skin involvement
OrphaCode: 79387
DisorderType: Category
Children: Name: Porphyria
OrphaCode: 738
DisorderType: Clinical group
Children: Name: Erythropoietic porphyria
OrphaCode: 659681
DisorderType: Clinical group
Children: Name: Congenital erythropoietic porphyria
OrphaCode: 79277
DisorderType: Disease
Name: Autosomal erythropoietic protoporphyria
OrphaCode: 79278
DisorderType: Disease
Name: X-linked erythropoietic protoporphyria
OrphaCode: 443197
DisorderType: Disease
Name: Erythropoietic uroporphyria associated with myeloid malignancy
OrphaCode: 280379
DisorderType: Disease
Name: Hepatoerythropoietic porphyria
OrphaCode: 95159
DisorderType: Disease
Name: Harderoporphyria
OrphaCode: 659672
DisorderType: Disease
Name: Hepatic porphyria
OrphaCode: 659694
DisorderType: Clinical group
Children: Name: Acute hepatic porphyria
OrphaCode: 95157
DisorderType: Clinical group
Children: Name: Hereditary coproporphyria
OrphaCode: 79273
DisorderType: Disease
Name: Acute intermittent porphyria
OrphaCode: 79276
DisorderType: Disease
Name: Variegate porphyria
OrphaCode: 79473
DisorderType: Disease
Name: Porphyria due to ALA dehydratase deficiency
OrphaCode: 100924
DisorderType: Disease
Name: Hepatic cutaneous porphyria
OrphaCode: 659698
DisorderType: Clinical group
Children: Name: Porphyria cutanea tarda
OrphaCode: 101330
DisorderType: Disease
Children: Name: Sporadic porphyria cutanea tarda
OrphaCode: 443057
DisorderType: Clinical subtype
Name: Familial porphyria cutanea tarda
OrphaCode: 443062
DisorderType: Clinical subtype
Name: Prolidase deficiency
OrphaCode: 742
DisorderType: Disease
Name: Other metabolic disease with skin involvement
OrphaCode: 79217
DisorderType: Category
Children: Name: Alkaptonuria
OrphaCode: 56
DisorderType: Disease
Name: Multiple carboxylase deficiency
OrphaCode: 148
DisorderType: Clinical group
Children: Name: Biotinidase deficiency
OrphaCode: 79241
DisorderType: Disease
Name: Holocarboxylase synthetase deficiency
OrphaCode: 79242
DisorderType: Disease
Name: Acrodermatitis enteropathica
OrphaCode: 37
DisorderType: Disease
Name: Mucopolysaccharidosis with skin involvement
OrphaCode: 79388
DisorderType: Category
Children: Name: Mucopolysaccharidosis type 2
OrphaCode: 580
DisorderType: Disease
Children: Name: Mucopolysaccharidosis type 2, severe form
OrphaCode: 217085
DisorderType: Clinical subtype
Name: Mucopolysaccharidosis type 2, attenuated form
OrphaCode: 217093
DisorderType: Clinical subtype
Name: Congenital disorder of glycosylation with skin involvement
OrphaCode: 371200
DisorderType: Category
Children: Name: Musculocontractural Ehlers-Danlos syndrome
OrphaCode: 2953
DisorderType: Disease
Name: CHIME syndrome
OrphaCode: 3474
DisorderType: Malformation syndrome
Name: Dowling-Degos disease
OrphaCode: 79145
DisorderType: Disease
Name: PMM2-CDG
OrphaCode: 79318
DisorderType: Disease
Name: MPDU1-CDG
OrphaCode: 79323
DisorderType: Disease
Name: COG7-CDG
OrphaCode: 79333
DisorderType: Disease
Name: DK1-CDG
OrphaCode: 91131
DisorderType: Disease
Name: Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome
OrphaCode: 306661
DisorderType: Clinical subtype
Name: SRD5A3-CDG
OrphaCode: 324737
DisorderType: Disease
Name: Autosomal recessive cutis laxa type 2A
OrphaCode: 357058
DisorderType: Disease
Children: Name: Wrinkly skin syndrome
OrphaCode: 2834
DisorderType: Clinical subtype
Name: Autosomal recessive cutis laxa type 2, classic type
OrphaCode: 357074
DisorderType: Clinical subtype
Name: GM3 synthase deficiency
OrphaCode: 370933
DisorderType: Disease
Name: Hyperzincemia and hypercalprotectinemia
OrphaCode: 251523
DisorderType: Disease
Name: Premature aging
OrphaCode: 79389
DisorderType: Category
Children: Name: Hallermann-Streiff-like syndrome
OrphaCode: 2109
DisorderType: Malformation syndrome
Name: Cockayne syndrome
OrphaCode: 191
DisorderType: Disease
Children: Name: COFS syndrome
OrphaCode: 1466
DisorderType: Clinical subtype
Name: Cockayne syndrome type 1
OrphaCode: 90321
DisorderType: Clinical subtype
Name: Cockayne syndrome type 2
OrphaCode: 90322
DisorderType: Clinical subtype
Name: Cockayne syndrome type 3
OrphaCode: 90324
DisorderType: Clinical subtype
Name: Werner syndrome
OrphaCode: 902
DisorderType: Disease
Name: Flynn-Aird syndrome
OrphaCode: 2047
DisorderType: Disease
Name: Hallermann-Streiff syndrome
OrphaCode: 2108
DisorderType: Malformation syndrome
Name: Acrogeria
OrphaCode: 2500
DisorderType: Malformation syndrome
Name: Hutchinson-Gilford progeria syndrome
OrphaCode: 740
DisorderType: Disease
Name: Progeria-short stature-pigmented nevi syndrome
OrphaCode: 2959
DisorderType: Malformation syndrome
Name: De Barsy syndrome
OrphaCode: 2962
DisorderType: Disease
Children: Name: ALDH18A1-related De Barsy syndrome
OrphaCode: 35664
DisorderType: Etiological subtype
Name: PYCR1-related De Barsy syndrome
OrphaCode: 293633
DisorderType: Etiological subtype
Name: Wiedemann-Rautenstrauch syndrome
OrphaCode: 3455
DisorderType: Malformation syndrome
Name: Progeroid syndrome, Petty type
OrphaCode: 2963
DisorderType: Malformation syndrome
Name: Xeroderma pigmentosum-Cockayne syndrome complex
OrphaCode: 220295
DisorderType: Disease
Name: Nestor-Guillermo progeria syndrome
OrphaCode: 280576
DisorderType: Malformation syndrome
Name: LMNA-related cardiocutaneous progeria syndrome
OrphaCode: 363618
DisorderType: Disease
Name: Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome
OrphaCode: 363649
DisorderType: Disease
Name: Acroosteolysis-keloid-like lesions-premature aging syndrome
OrphaCode: 363665
DisorderType: Disease
Name: PCNA-related progressive neurodegenerative photosensitivity syndrome
OrphaCode: 438134
DisorderType: Disease
Name: Rare photodermatosis
OrphaCode: 79390
DisorderType: Category
Children: Name: Solar urticaria
OrphaCode: 97230
DisorderType: Disease
Name: UV-sensitive syndrome
OrphaCode: 178338
DisorderType: Disease
Name: Xeroderma pigmentosum-Cockayne syndrome complex
OrphaCode: 220295
DisorderType: Disease
Name: Hydroa vacciniforme
OrphaCode: 330058
DisorderType: Disease
Name: Actinic prurigo
OrphaCode: 330061
DisorderType: Disease
Name: Chronic actinic dermatitis
OrphaCode: 330064
DisorderType: Disease
Name: Xeroderma pigmentosum variant
OrphaCode: 90342
DisorderType: Disease
Name: Bloom syndrome
OrphaCode: 125
DisorderType: Disease
Name: Hartnup disease
OrphaCode: 2116
DisorderType: Disease
Name: Porphyria
OrphaCode: 738
DisorderType: Clinical group
Children: Name: Erythropoietic porphyria
OrphaCode: 659681
DisorderType: Clinical group
Children: Name: Congenital erythropoietic porphyria
OrphaCode: 79277
DisorderType: Disease
Name: Autosomal erythropoietic protoporphyria
OrphaCode: 79278
DisorderType: Disease
Name: X-linked erythropoietic protoporphyria
OrphaCode: 443197
DisorderType: Disease
Name: Erythropoietic uroporphyria associated with myeloid malignancy
OrphaCode: 280379
DisorderType: Disease
Name: Hepatoerythropoietic porphyria
OrphaCode: 95159
DisorderType: Disease
Name: Harderoporphyria
OrphaCode: 659672
DisorderType: Disease
Name: Hepatic porphyria
OrphaCode: 659694
DisorderType: Clinical group
Children: Name: Acute hepatic porphyria
OrphaCode: 95157
DisorderType: Clinical group
Children: Name: Hereditary coproporphyria
OrphaCode: 79273
DisorderType: Disease
Name: Acute intermittent porphyria
OrphaCode: 79276
DisorderType: Disease
Name: Variegate porphyria
OrphaCode: 79473
DisorderType: Disease
Name: Porphyria due to ALA dehydratase deficiency
OrphaCode: 100924
DisorderType: Disease
Name: Hepatic cutaneous porphyria
OrphaCode: 659698
DisorderType: Clinical group
Children: Name: Porphyria cutanea tarda
OrphaCode: 101330
DisorderType: Disease
Children: Name: Sporadic porphyria cutanea tarda
OrphaCode: 443057
DisorderType: Clinical subtype
Name: Familial porphyria cutanea tarda
OrphaCode: 443062
DisorderType: Clinical subtype
Name: Rothmund-Thomson syndrome
OrphaCode: 2909
DisorderType: Disease
Children: Name: Rothmund-Thomson syndrome type 1
OrphaCode: 221008
DisorderType: Clinical subtype
Name: Rothmund-Thomson syndrome type 2
OrphaCode: 221016
DisorderType: Clinical subtype
Name: Xeroderma pigmentosum
OrphaCode: 910
DisorderType: Disease
Name: Kindler epidermolysis bullosa
OrphaCode: 2908
DisorderType: Disease
Name: Immune deficiency with skin involvement
OrphaCode: 79391
DisorderType: Category
Children: Name: CADINS disease
OrphaCode: 619972
DisorderType: Disease
Name: Autosomal recessive hyper-IgE syndrome due to ZNF341 deficiency
OrphaCode: 641368
DisorderType: Disease
Name: Autosomal dominant combined immunodeficiency due to ERBIN deficiency
OrphaCode: 656912
DisorderType: Disease
Name: Autosomal recessive combined immunodeficiency due to partial IL6ST deficiency
OrphaCode: 656300
DisorderType: Disease
Name: Autosomal recessive combined immunodeficiency due to IL6R deficiency
OrphaCode: 656326
DisorderType: Disease
Name: Early-onset immune dysregulation with autoimmunity due to DOCK11 partial deficiency
OrphaCode: 658946
DisorderType: Disease
Name: PLCG2-associated antibody deficiency and immune dysregulation
OrphaCode: 300359
DisorderType: Disease
Name: Combined immunodeficiency due to RELA haploinsufficiency
OrphaCode: 596759
DisorderType: Disease
Name: Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome
OrphaCode: 568056
DisorderType: Disease
Name: Wiskott-Aldrich syndrome
OrphaCode: 906
DisorderType: Disease
Name: Chronic granulomatous disease
OrphaCode: 379
DisorderType: Disease
Name: Chédiak-Higashi syndrome
OrphaCode: 167
DisorderType: Disease
Name: Chronic mucocutaneous candidiasis
OrphaCode: 1334
DisorderType: Disease
Name: Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency
OrphaCode: 2314
DisorderType: Disease
Name: Hereditary mucoepithelial dysplasia
OrphaCode: 1839
DisorderType: Malformation syndrome
Name: Inherited epidermodysplasia verruciformis
OrphaCode: 302
DisorderType: Disease
Name: Erythroderma desquamativum
OrphaCode: 314
DisorderType: Disease
Name: Griscelli syndrome type 2
OrphaCode: 79477
DisorderType: Clinical subtype
Name: Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome
OrphaCode: 83617
DisorderType: Malformation syndrome
Name: Combined immunodeficiency with granulomatosis
OrphaCode: 157949
DisorderType: Disease
Name: Other acquired skin disease
OrphaCode: 90077
DisorderType: Category
Children: Name: Uremic pruritus
OrphaCode: 94059
DisorderType: Particular clinical situation in a disease or syndrome
Name: Cheilitis glandularis
OrphaCode: 1221
DisorderType: Disease
Name: Sneddon syndrome
OrphaCode: 820
DisorderType: Disease
Name: Erosive pustular dermatosis of the scalp
OrphaCode: 222
DisorderType: Disease
Name: Kerion celsi
OrphaCode: 499
DisorderType: Disease
Name: Wells syndrome
OrphaCode: 901
DisorderType: Disease
Name: Jessner lymphocytic infiltration of the skin
OrphaCode: 33314
DisorderType: Disease
Name: Bullous impetigo
OrphaCode: 36237
DisorderType: Disease
Name: Acquired kinky hair syndrome
OrphaCode: 37559
DisorderType: Disease
Name: Subcorneal pustular dermatosis
OrphaCode: 48377
DisorderType: Disease
Name: Aseptic abscess syndrome
OrphaCode: 54251
DisorderType: Disease
Name: Interstitial granulomatous dermatitis with arthritis
OrphaCode: 79099
DisorderType: Disease
Name: Pellagra
OrphaCode: 97352
DisorderType: Disease
Name: Nephrogenic systemic fibrosis
OrphaCode: 137617
DisorderType: Disease
Name: Bazex syndrome
OrphaCode: 166113
DisorderType: Disease
Name: Virus-associated trichodysplasia spinulosa
OrphaCode: 228379
DisorderType: Disease
Name: Infective dermatitis associated with HTLV-1
OrphaCode: 289347
DisorderType: Disease
Name: Scleredema
OrphaCode: 352763
DisorderType: Disease
Name: Eosinophilic fasciitis
OrphaCode: 3165
DisorderType: Disease
Name: Primary cutaneous tuberculosis
OrphaCode: 645849
DisorderType: Disease
Name: Nicolau syndrome
OrphaCode: 664787
DisorderType: Clinical syndrome
Name: Trigeminal trophic syndrome
OrphaCode: 664901
DisorderType: Disease
Name: Granuloma faciale
OrphaCode: 615943
DisorderType: Disease
Name: Classic eosinophilic pustular folliculitis
OrphaCode: 617408
DisorderType: Disease
Name: Primary cutaneous plasmacytosis
OrphaCode: 451602
DisorderType: Disease
Name: Cutaneous pseudolymphoma
OrphaCode: 451607
DisorderType: Disease
Name: Cutaneous mastocytosis
OrphaCode: 66646
DisorderType: Clinical group
Children: Name: Cutaneous mastocytoma
OrphaCode: 79455
DisorderType: Disease
Name: Diffuse cutaneous mastocytosis
OrphaCode: 79456
DisorderType: Disease
Children: Name: Bullous diffuse cutaneous mastocytosis
OrphaCode: 280785
DisorderType: Clinical subtype
Name: Pseudoxanthomatous diffuse cutaneous mastocytosis
OrphaCode: 280794
DisorderType: Clinical subtype
Name: Maculopapular cutaneous mastocytosis
OrphaCode: 79457
DisorderType: Disease
Children: Name: Telangiectasia macularis eruptiva perstans
OrphaCode: 90389
DisorderType: Clinical subtype
Name: Typical urticaria pigmentosa
OrphaCode: 158766
DisorderType: Clinical subtype
Name: Plaque-form urticaria pigmentosa
OrphaCode: 158769
DisorderType: Clinical subtype
Name: Nodular urticaria pigmentosa
OrphaCode: 158772
DisorderType: Clinical subtype
Name: Erythema elevatum diutinum
OrphaCode: 90000
DisorderType: Disease
Name: Systemic disease with skin involvement
OrphaCode: 290836
DisorderType: Category
Children: Name: Scleroderma
OrphaCode: 801
DisorderType: Clinical group
Children: Name: Localized scleroderma
OrphaCode: 90289
DisorderType: Disease
Name: Systemic sclerosis
OrphaCode: 90291
DisorderType: Disease
Children: Name: Diffuse cutaneous systemic sclerosis
OrphaCode: 220393
DisorderType: Clinical subtype
Name: Limited cutaneous systemic sclerosis
OrphaCode: 220402
DisorderType: Clinical subtype
Name: Limited systemic sclerosis
OrphaCode: 220407
DisorderType: Clinical subtype
Name: Dermatomyositis
OrphaCode: 221
DisorderType: Disease
Children: Name: Amyopathic dermatomyositis
OrphaCode: 645617
DisorderType: Clinical subtype
Name: Adermatopathic dermatomyositis
OrphaCode: 645626
DisorderType: Clinical subtype
Name: Classical dermatomyositis
OrphaCode: 645613
DisorderType: Clinical subtype
Name: Reynolds syndrome
OrphaCode: 779
DisorderType: Disease
Name: Juvenile dermatomyositis
OrphaCode: 93672
DisorderType: Disease
Name: Non-Langerhans cell histiocytosis
OrphaCode: 157987
DisorderType: Clinical group
Children: Name: Sea-blue histiocytosis
OrphaCode: 158029
DisorderType: Disease
Name: Rosaï-Dorfman disease
OrphaCode: 158014
DisorderType: Disease
Name: Erdheim-Chester disease
OrphaCode: 35687
DisorderType: Disease
Name: Multicentric reticulohistiocytosis
OrphaCode: 139436
DisorderType: Disease
Name: Generalized eruptive histiocytosis
OrphaCode: 157991
DisorderType: Disease
Name: Benign cephalic histiocytosis
OrphaCode: 157997
DisorderType: Disease
Name: Juvenile xanthogranuloma
OrphaCode: 158000
DisorderType: Disease
Name: Xanthoma disseminatum
OrphaCode: 158003
DisorderType: Disease
Name: Papular xanthoma
OrphaCode: 158008
DisorderType: Disease
Name: Necrobiotic xanthogranuloma
OrphaCode: 158011
DisorderType: Disease
Name: Indeterminate cell histiocytosis
OrphaCode: 158019
DisorderType: Disease
Name: Progressive nodular histiocytosis
OrphaCode: 158022
DisorderType: Disease
Name: Hereditary progressive mucinous histiocytosis
OrphaCode: 158025
DisorderType: Disease
Name: Drug-induced lupus erythematosus
OrphaCode: 231111
DisorderType: Disease
Name: Autoinflammatory syndrome with skin involvement
OrphaCode: 290842
DisorderType: Category
Children: Name: Hyperzincemia and hypercalprotectinemia
OrphaCode: 251523
DisorderType: Disease
Name: Autoinflammatory syndrome with acne and/or hidradenitis suppurativa
OrphaCode: 653434
DisorderType: Clinical group
Children: Name: PAPASH syndrome
OrphaCode: 641380
DisorderType: Disease
Name: PAPA syndrome
OrphaCode: 69126
DisorderType: Disease
Name: PASH syndrome
OrphaCode: 289478
DisorderType: Disease
Name: PASS syndrome
OrphaCode: 641385
DisorderType: Disease
Name: PsAPASH syndrome
OrphaCode: 641390
DisorderType: Disease
Name: SAPHO syndrome
OrphaCode: 793
DisorderType: Disease
Name: Early-onset autoinflammatory syndrome due to A20 haploinsufficiency
OrphaCode: 674762
DisorderType: Disease
Name: Sweet syndrome
OrphaCode: 3243
DisorderType: Disease
Name: Behçet disease
OrphaCode: 117
DisorderType: Disease
Name: Tumor necrosis factor receptor 1 associated periodic syndrome
OrphaCode: 32960
DisorderType: Disease
Name: Pyoderma gangrenosum
OrphaCode: 48104
DisorderType: Disease
Children: Name: Classic pyoderma gangrenosum
OrphaCode: 538863
DisorderType: Clinical subtype
Name: Pustular pyoderma gangrenosum
OrphaCode: 538866
DisorderType: Clinical subtype
Name: Bullous pyoderma gangrenosum
OrphaCode: 538869
DisorderType: Clinical subtype
Name: Vegetative pyoderma gangrenosum
OrphaCode: 538872
DisorderType: Clinical subtype
Name: Majeed syndrome
OrphaCode: 77297
DisorderType: Disease
Name: Blau syndrome
OrphaCode: 90340
DisorderType: Disease
Name: NLRP3-associated autoinflammatory disease
OrphaCode: 208650
DisorderType: Clinical group
Children: Name: Muckle-Wells syndrome
OrphaCode: 575
DisorderType: Disease
Name: CINCA syndrome
OrphaCode: 1451
DisorderType: Disease
Name: Familial cold urticaria
OrphaCode: 47045
DisorderType: Disease
Name: Keratitis fugax hereditaria
OrphaCode: 647815
DisorderType: Disease
Name: Sterile multifocal osteomyelitis with periostitis and pustulosis
OrphaCode: 210115
DisorderType: Disease
Name: NLRP12-associated hereditary periodic fever syndrome
OrphaCode: 247868
DisorderType: Disease
Name: Infantile onset panniculitis with uveitis and systemic granulomatosis
OrphaCode: 251304
DisorderType: Disease
Name: Mevalonate kinase deficiency
OrphaCode: 309025
DisorderType: Disease
Children: Name: Mevalonic aciduria
OrphaCode: 29
DisorderType: Clinical subtype
Name: Hyperimmunoglobulinemia D with periodic fever
OrphaCode: 343
DisorderType: Clinical subtype
Name: Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis
OrphaCode: 324964
DisorderType: Disease
Name: Proteasome-associated autoinflammatory syndrome
OrphaCode: 324977
DisorderType: Disease
Name: DITRA
OrphaCode: 404546
DisorderType: Disease
Name: STING-associated vasculopathy with onset in infancy
OrphaCode: 425120
DisorderType: Disease
Name: Neonatal inflammatory skin and bowel disease
OrphaCode: 294023
DisorderType: Disease
Name: NLRC4-related familial cold autoinflammatory syndrome
OrphaCode: 576349
DisorderType: Disease
Name: Periodic fever-infantile enterocolitis-autoinflammatory syndrome
OrphaCode: 436166
DisorderType: Disease
Name: SAMD9L-associated autoinflammatory syndrome
OrphaCode: 619367
DisorderType: Disease
Name: NOCARH syndrome
OrphaCode: 619363
DisorderType: Disease
Name: VEXAS syndrome
OrphaCode: 596753
DisorderType: Disease
Name: F12-associated cold autoinflammatory syndrome
OrphaCode: 617919
DisorderType: Disease
Name: Toxic dermatosis
OrphaCode: 293815
DisorderType: Category
Children: Name: Erythema multiforme major
OrphaCode: 502499
DisorderType: Disease
Name: Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum
OrphaCode: 95455
DisorderType: Disease
Children: Name: Toxic epidermal necrolysis
OrphaCode: 537
DisorderType: Clinical subtype
Name: Stevens-Johnson syndrome
OrphaCode: 36426
DisorderType: Clinical subtype
Name: Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome
OrphaCode: 506784
DisorderType: Clinical subtype
Name: Drug reaction with eosinophilia and systemic symptoms
OrphaCode: 139402
DisorderType: Disease
Name: Acute generalized exanthematous pustulosis
OrphaCode: 293173
DisorderType: Disease
Name: Fixed drug eruption
OrphaCode: 293812
DisorderType: Disease
Name: Autoimmune disease with skin involvement
OrphaCode: 315350
DisorderType: Category
Children: Name: Rare cutaneous lupus erythematosus
OrphaCode: 535
DisorderType: Clinical group
Children: Name: Subacute cutaneous lupus erythematosus
OrphaCode: 163525
DisorderType: Disease
Name: Chronic cutaneous lupus erythematosus
OrphaCode: 163531
DisorderType: Clinical group
Children: Name: Familial Chilblain lupus
OrphaCode: 481662
DisorderType: Disease
Name: Chilblain lupus
OrphaCode: 90280
DisorderType: Disease
Name: Discoid lupus erythematosus
OrphaCode: 90281
DisorderType: Disease
Name: Hypertrophic or verrucous lupus erythematosus
OrphaCode: 90282
DisorderType: Disease
Name: Lupus erythematosus tumidus
OrphaCode: 90283
DisorderType: Disease
Name: Lupus erythematosus panniculitis
OrphaCode: 90285
DisorderType: Disease
Name: Autoimmune bullous skin disease
OrphaCode: 79669
DisorderType: Clinical group
Children: Name: Pemphigus vulgaris
OrphaCode: 704
DisorderType: Disease
Name: Dermatitis herpetiformis
OrphaCode: 1656
DisorderType: Disease
Name: Bullous pemphigoid
OrphaCode: 703
DisorderType: Disease
Name: Superficial pemphigus
OrphaCode: 46485
DisorderType: Clinical group
Children: Name: Endemic pemphigus foliaceus
OrphaCode: 636955
DisorderType: Disease
Name: Pemphigus erythematosus
OrphaCode: 79480
DisorderType: Disease
Name: Pemphigus foliaceus
OrphaCode: 79481
DisorderType: Disease
Name: Herpetiform pemphigus
OrphaCode: 208524
DisorderType: Disease
Name: Mucous membrane pemphigoid
OrphaCode: 46486
DisorderType: Disease
Name: Epidermolysis bullosa acquisita
OrphaCode: 46487
DisorderType: Disease
Name: Linear IgA dermatosis
OrphaCode: 46488
DisorderType: Disease
Name: Pemphigoid gestationis
OrphaCode: 63275
DisorderType: Disease
Name: Paraneoplastic pemphigus
OrphaCode: 63455
DisorderType: Disease
Name: IgA pemphigus
OrphaCode: 555905
DisorderType: Disease
Name: Anti-p200 pemphigoid
OrphaCode: 454710
DisorderType: Disease
Name: Pemphigus vegetans
OrphaCode: 79479
DisorderType: Disease
Name: Autoerythrocyte sensitization syndrome
OrphaCode: 324636
DisorderType: Disease
Name: Rowell syndrome
OrphaCode: 658584
DisorderType: Disease