Rare Disease Library

Non-syndromic pouch colon

Non-syndromic ARM with pouch colon · Non-syndromic anorectal malformation with pouch colon

Anorectal malformation

ARM

Biliary atresia with splenic malformation syndrome

BASM syndrome

Genetic malformation syndrome with odontal and/or periodontal component

Genetic malformation syndrome with short stature

Genetic non-syndromic central nervous system malformation

Genetic syndrome with a central nervous system malformation as a major feature

Genetic syndrome with a CNS malformation as major feature

Lowe-Kohn-Cohen syndrome

Deafness-nephritis-ano-rectal malformation syndrome · Hearing loss-nephritis-ano-rectal malformation syndrome

Malformation syndrome with hamartosis

Dysmorphologic diseases with phakomatosis

Malformation syndrome with odontal and/or periodontal component

Malformation syndrome with short stature

Non-syndromic anal stenosis

Non-syndromic ARM with anal stenosis · Non-syndromic anorectal malformation with anal stenosis

Non-syndromic anorectal malformation

Non-syndromic ARM

Non-syndromic anorectal malformation without fistula

Non-syndromic ARM without fistula · Non-syndromic anorectal malformation with no fistula

Non-syndromic central nervous system malformation

Non-syndromic cerebral malformation

Non-syndromic brain malformation

Non-syndromic cerebral malformation due to abnormal neuronal migration

Brain malformation due to abnormal neuronal migration

Non-syndromic cloacal malformation

Non-syndromic diaphragmatic or abdominal wall malformation

Non-syndromic diaphragmatic or thoracic malformation

Non-syndromic esophageal malformation

Non-syndromic gastroduodenal malformation

Non-syndromic H-type fistula

Non-syndromic ARM with H-type fistula · Non-syndromic anorectal malformation with H-type fistula

Non-syndromic intestinal malformation

Non-syndromic limb malformation

Non-syndromic perineal fistula

Non-syndromic anorectal malformation with perineal fistula · Non-syndromic ARM with perineal fistula

Non-syndromic rectal atresia

Non-syndromic ARM with rectal atresia · Non-syndromic anorectal malformation with rectal atresia

Non-syndromic rectal stenosis

Non-syndromic ARM with rectal stenosis · Non-syndromic anorectal malformation with rectal stenosis

Non-syndromic rectourethral fistula

Non-syndromic ARM with rectourethral fistula · Non-syndromic anorectal malformation with rectourethral fistula

Non-syndromic rectourethral fistula, bulbar type

Non-syndromic ARM with rectourethral fistula, bulbar type · Non-syndromic anorectal malformation with rectobulbar fistula

Non-syndromic rectourethral fistula, prostatic type

Non-syndromic ARM with rectourethral fistula, prostatic type · Non-syndromic anorectal malformation with rectoprostatic fistula

Non-syndromic rectovaginal fistula

Non-syndromic ARM with rectovaginal fistula · Non-syndromic anorectal malformation with rectovaginal fistula

Non-syndromic rectovesical fistula

Non-syndromic ARM with rectovesical fistula · Non-syndromic anorectal malformation with bladder neck fistula

Non-syndromic renal or urinary tract malformation

Non-syndromic respiratory or mediastinal malformation

Non-syndromic urogenital tract malformation

Non-syndromic urogenital tract malformation of female

Non-syndromic urogenital tract malformation of male

Non-syndromic urogenital tract malformation of male and female

Non-syndromic uterovaginal malformation

Non-syndromic vestibular fistula

Non-syndromic ARM with vestibular fistula · Non-syndromic anorectal malformation with vestibular fistula

Rare congenital non-syndromic heart malformation

Rare developmental defect during embryogenesis

Malformation syndrome

Rare syndrome with cardiac malformations

Syndrome or malformation associated with head and neck malformations

Syndromic esophageal malformation

Syndromic gastroduodenal malformation

Syndromic intestinal malformation