MEDLIB
Orphanet Database

Rare diseases

7,547 diseases with genetics, phenotypes, and epidemiology

7,547Diseases
4 552Genes
8 700Phenotypes
1,772 diseases matched (Malform.) Reset

RASA1-related capillary malformation-arteriovenous malformation

ORPHA:693907Malform.
Autosomal dominant

RERE-related neurodevelopmental syndrome

ORPHA:494344Malform.
Autosomal dominant

RIDDLE syndrome

ORPHA:420741Malform.
Autosomal recessive

RIN2 syndrome

ORPHA:217335Malform.
Autosomal recessive

RNU4-2-related autosomal dominant neurodevelopmental disorder

ORPHA:686488Malform.
Autosomal dominant

Rabson-Mendenhall syndrome

ORPHA:769Malform.
Autosomal recessive

Radial deficiency-tibial hypoplasia syndrome

ORPHA:1121Malform.

Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome

ORPHA:2252Malform.

Radial ray hypoplasia-choanal atresia syndrome

ORPHA:3026Malform.
Autosomal dominant

Radio-renal syndrome

ORPHA:3015Malform.

Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome

ORPHA:71289Malform.
Autosomal dominant

Radioulnar synostosis-developmental delay-hypotonia syndrome

ORPHA:3270Malform.
Unknown

Radioulnar synostosis-microcephaly-scoliosis syndrome

ORPHA:3268Malform.
Unknown

Ramon syndrome

ORPHA:3019Malform.
Autosomal recessive

Ramos-Arroyo syndrome

ORPHA:1051Malform.
Autosomal dominant

Rauch-Steindl syndrome

ORPHA:659642Malform.

Recombinant 8 syndrome

ORPHA:96167Malform.
Unknown

Regressive spondylometaphyseal dysplasia

ORPHA:448267Malform.
Autosomal recessive

Renal arteriovenous malformation

ORPHA:693839Malform.
Not applicable

Renal caliceal diverticuli-deafness syndrome

ORPHA:2838Malform.

Renal coloboma syndrome

ORPHA:1475Malform.
Autosomal dominant

Renal tubular dysgenesis

ORPHA:3033Malform.
Autosomal recessive, Not applicable

Renal-hepatic-pancreatic dysplasia

ORPHA:294415Malform.
Autosomal recessive

Renpenning syndrome

ORPHA:3242Malform.
X-linked recessive