Rare Disease Library

Johnson neuroectodermal syndrome

Alopecia-anosmia-deafness-hypogonadism syndrome · Johnson-McMillin syndrome

Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome

Johnson-Munson syndrome

Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency

AD-HIES due to STAT3 deficiency · Autosomal dominant HIES due to STAT3 deficiency

Autosomal recessive spastic paraplegia type 23

Lison syndrome · SPG23

Dubin-Johnson syndrome

Dubin-Sprinz disease · Hyperbilirubinemia type 2

Epidermolysis bullosa simplex with anodontia/hypodontia

Kallin syndrome · EBS with anodontia/hypodontia

Gingival fibromatosis-progressive deafness syndrome

Jones syndrome · Gingival fibromatosis-progressive hearing loss syndrome

Gorlin syndrome

Basal cell nevus syndrome · Gorlin-Goltz syndrome

Infantile spasms-broad thumbs syndrome

Tsao-Ellingson syndrome

Johanson-Blizzard syndrome

JBS

Kjellin syndrome

Hereditary spastic paraparesis type 15 · Autosomal recessive spastic paraplegia type 15

Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome

Berlin syndrome · Ectodermal dysplasia, Berlin type

Mills syndrome

Nelson syndrome

Postaxial acrofacial dysostosis

Miller syndrome · POADS

Posterior cortical atrophy

Benson syndrome · Biparietal Alzheimer disease

Ptosis-strabismus-ectopic pupils syndrome

McPherson-Hall syndrome

Stevens-Johnson syndrome

Dermatostomatitis, Stevens Johnson type

Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome

Stevens-Johnson/toxic epidermal necrolysis overlap syndrome · SJS/TEN overlap syndrome

Watson syndrome

Pulmonic stenosis with 'café-au-lait' spots

X-linked intellectual disability-macrocephaly-macroorchidism syndrome

Johnson syndrome