Rare Disease Library

Cornelia de Lange syndrome

Brachmann-de Lange syndrome

46,XX testicular difference of sex development

46,XX testicular DSD · De la Chapelle syndrome

Acrocardiofacial syndrome

ACFS · CCGE syndrome

Autoimmune interstitial lung disease-arthritis syndrome

COPA syndrome

Brittle cornea syndrome

Ehlers-Danlos syndrome type 6B

C syndrome

OTCS · Opitz C trigonocephaly

CODAS syndrome

Cerebrooculodentoauriculoskeletal syndrome

COFS syndrome

Cerebrooculofacioskeletal syndrome · Pena-Shokeir syndrome type 2

Cogan syndrome

Cohen syndrome

Congenital Horner syndrome

Congenital Claude-Bernard-Horner syndrome

Cooks syndrome

Anonychia-onychodystrophy with hypoplasia or absence of distal phalanges syndrome · ODP

De Barsy syndrome

Cutis laxa-corneal clouding-intellectual disability syndrome · Progeroid syndrome, De Barsy type

Deafness with labyrinthine aplasia, microtia, and microdontia

Hearing loss with labyrinthine aplasia, microtia, and microdontia · LAMM syndrome

DEND syndrome

Developmental delay-epilepsy-neonatal diabetes syndrome

Dent disease

Dent syndrome · Low-molecular-weight proteinuria with hypercalciuria and nephrocalcinosis

Diethylstilbestrol syndrome

DES embryofetopathy · DES syndrome

Febrile infection-related epilepsy syndrome

AERRPS · Acute encephalitis with refractory repetitive partial seizures

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

Liang-Wang syndrome

Grange syndrome

Grange occlusive arterial syndrome · Progressive arterial occlusive disease-hypertension-heart defects-bone fragility-brachysyndactyly syndrome

Isolated congenital onychodysplasia

COIF · COIF syndrome

Joubert syndrome with hepatic defect

COACH syndrome · Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis

Lacrimoauriculodentodigital syndrome

LADD syndrome · LARD syndrome

Laron syndrome

Complete growth hormone insensitivity · GH receptor deficiency

Lelis syndrome

Ectodermal dysplasia-acanthosis nigricans syndrome

Neuromyelitis optica spectrum disorder

Devic disease · Devic syndrome

Neuromyelitis optica spectrum disorder with anti-AQP4 antibodies

Devic disease · Devic syndrome

Neuromyelitis optica spectrum disorder with anti-MOG antibodies

Devic disease · Devic syndrome

Neuromyelitis optica spectrum disorder without anti-MOG and without anti-AQP4 antibodies

Devic disease · Devic syndrome

Spinal arteriovenous metameric syndrome

Cutaneomeningospinal angiomatosis · SAMS 1-31

Spondylometaphyseal dysplasia-corneal dystrophy syndrome

SMD-corneal dystrophy syndrome

Trichorhinophalangeal syndrome type 2

Langer-Giedion syndrome

Von Voss-Cherstvoy syndrome

DK phocomelia syndrome · Phocomelia-thrombocytopenia-encephalocele-urogenital malformations syndrome