Rare Disease Library

Arterial thoracic outlet syndrome

ATOS · Arterial TOS

Acrokeratosis verruciformis of Hopf

AKV of Hopf

Arthrogryposis-hyperkeratosis syndrome, lethal form

Johnston-Aarons-Schelley syndrome

Atypical lichen myxedematosus

Intermediate lichen myxedematosus

Autosomal systemic lupus erythematosus

Autosomal SLE · Disseminated lupus erythematosus

Carpotarsal osteochondromatosis

Maroteaux-Le Merrer-Bensahel syndrome

Cerebrotendinous xanthomatosis

CTX · Sterol 27-hydroxylase deficiency

Cheirospondyloenchondromatosis

Generalized enchondromatosis with platyspondyly · Enchondromatosis Spranger, type VI

Chronic cutaneous lupus erythematosus

Circumscribed palmoplantar hypokeratosis

Circumscribed acral hypokeratosis

Combined immunodeficiency with granulomatosis

CID due to RAG 1/2 deficiency · Combined immunodeficiency due to RAG 1/2 deficiency

Congenital erosive and vesicular dermatosis

Congenital erosive and vesicular dermatosis with reticulated supple scarring · CEVD

Congenital infiltrating lipomatosis of the face

CIL-F · Facial infused lipomatosis

Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome

Craniosynostosis-anal anomalies-porokeratosis syndrome

CAP syndrome · CDAGS syndrome

Dermatosparaxis Ehlers-Danlos syndrome

Dermatosparaxis EDS · Ehlers-Danlos syndrome type 7C

Digenic hemochromatosis

Discoid lupus erythematosus

Discrete papular lichen myxedematosus

Disseminated peritoneal leiomyomatosis

DPL · Diffuse peritoneal leiomyomatosis

Disseminated superficial actinic porokeratosis

Distomatosis

Distomiasis · Fluke infection

Drug-induced lupus erythematosus

DILE

Dyschromatosis symmetrica hereditaria

Acropigmentation of Dohi

Dyschromatosis universalis hereditaria

Dyskeratosis congenita

DC · DKC

Dysspondyloenchondromatosis

Ectodermal dysplasia-natal teeth-skin abscesses-plantar hyperkeratosis-hearing impairment

Encephalocraniocutaneous lipomatosis

Haberland syndrome

Eosinophilic granulomatosis with polyangiitis

Churg-Strauss syndrome · EGPA

Erosive pustular dermatosis of the scalp

Familial angiolipomatosis

Familial cylindromatosis

Turban tumor syndrome

Familial multiple lipomatosis

Fibrosis-neurodegeneration-cerebral angiomatosis syndrome

FINCA · Interstitial lung fibrosis-neurodegeneration-cerebral angiomatosis syndrome

Focal acral hyperkeratosis

Punctate palmoplantar hyperkeratosis type 3 without elastoidosis · Punctate palmoplantar keratoderma type 3 without elastoidosis

Focal palmoplantar keratoderma with joint keratoses

Full NF2-related schwannomatosis

Nonmosaic neurofibromatosis type 2 · Nonmosaic NF2-related schwannomatosis

Full schwannomatosis

Full NF3 · Full neurofibromatosis type 3

Genetic photodermatosis

Genetic skin photosensitivity · Photogenodermatosis

Genetic porokeratosis

Genochondromatosis type 1

Genochondromatosis type 2

Gingival fibromatosis-aortic root dilatation-facial dysmorphism-intellectual disability syndrome

Liang-Wang syndrome

Gingival fibromatosis-facial dysmorphism syndrome

Gingival fibromatosis-hypertrichosis syndrome

CGHT · Congenital generalized hypertrichosis terminalis

Gingival fibromatosis-progressive deafness syndrome

Jones syndrome · Gingival fibromatosis-progressive hearing loss syndrome

Gliomatosis cerebri