Rare Disease Library

Hereditary leiomyomatosis and renal cell cancer

Familial leiomyomatosis and renal cell cancer · Familial leiomyomatosis cutis et uteri

HNF1B-related autosomal dominant tubulointerstitial kidney disease

Renal cysts and diabetes syndrome · HNF1B-MODY

Indomethacin embryofetopathy

Fetal indomethacin syndrome

LUMBAR syndrome

PELVIS syndrome · Perineal hemangioma-external genitalia malformations-lipomyelomeningocele-vesicorenal abnormalities-imperforate anus-skin tag syndrome

Metaphyseal acroscyphodysplasia

Bellini syndrome · Intellectual disability-short stature-wedge-shaped epiphyses of knees syndrome

N syndrome

Nail-patella syndrome

Onychoosteodysplasia · Turner-Kieser syndrome

Osteosclerotic bone dysplasia

Raine syndrome

Otodental syndrome

Globodontia · Otodental dysplasia

Ramon syndrome

Cherubism-gingival fibromatosis-intellectual disability syndrome

Recombinant 8 syndrome

Duplication 8q/deletion 8p · Rec(8) syndrome

Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome

ROSAH syndrome · Optic nerve edema-splenomegaly syndrome

Rett syndrome

Reye syndrome

RHYNS syndrome

Retinitis pigmentosa-hypopituitarism-nephronophthisis-skeletal dysplasia syndrome

RIN2 syndrome

MACS syndrome · Macrocephaly-alopecia-cutis laxa-scoliosis syndrome

Ring chromosome 1 syndrome

Ring chromosome 1 · Ring 1

Ring chromosome 11 syndrome

RC11 · r(11) syndrome

Ring chromosome 22 syndrome

Ring chromosome 22 · Ring 22

Ring chromosome 4 syndrome

Ring chromosome 4 · Ring 4

Ring chromosome 8 syndrome

Ring chromosome 8 · Ring 8

RNU4-2-related autosomal dominant neurodevelopmental disorder

ReNU syndrome

Robinow syndrome

Acral dysostosis with facial and genital abnormalities · Fetal face syndrome

Rombo syndrome

Rotor syndrome

Hyperbilirubinemia, Rotor type

Rowell syndrome

Rudiger syndrome

Ruvalcaba syndrome

SERKAL syndrome

Sex reversion-kidneys, adrenal and lung dysgenesis syndrome

Silver-Russell syndrome

Silver-Russell dwarfism

Smith-Lemli-Opitz syndrome

7-dehydrocholesterol reductase deficiency · RSH syndrome

Thalidomide embryopathy

Fetal thalidomide syndrome

Townes-Brocks syndrome

Sensorineural hearing loss with imperforate anus and hypoplastic thumbs · REAR syndrome

Toxic epidermal necrolysis

Lyell syndrome

Twin to twin transfusion syndrome

Feto-fetal transfusion syndrome

W syndrome

Pallister-W syndrome

Wells syndrome

Eosinophilic cellulitis

X-linked fetal akinesia syndrome

Holmes-Benacerraf syndrome