Rare Disease Library

Browse Orphanet-curated rare diseases with HPO phenotype annotations, synonyms, and linked support programs. Search by name, abbreviation, or synonym.

Try: "IgA nephropathy", "C3G", "Berger's disease", "PKU", "Duchenne"

31 matching diseasesClear search ×

Non-syndromic rectourethral fistula

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

ORPHA:600961

Non-syndromic rectourethral fistula, bulbar type

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

ORPHA:600966

Non-syndromic rectourethral fistula, prostatic type

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

ORPHA:600975

Anorectal malformation

ARM

ORPHA:96346

Lowe-Kohn-Cohen syndrome

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

ORPHA:2408

Malformation syndrome with short stature

ORPHA:139021

Non-syndromic anal stenosis

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

ORPHA:601008

Non-syndromic anorectal malformation

Non-syndromic ARM

ORPHA:557

Non-syndromic anorectal malformation without fistula

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

ORPHA:601002

Non-syndromic central nervous system malformation

ORPHA:108989

Non-syndromic cerebral malformation

Non-syndromic brain malformation

ORPHA:199633

Non-syndromic cloacal malformation

ORPHA:600998

Non-syndromic diaphragmatic or abdominal wall malformation

ORPHA:108977

Non-syndromic esophageal malformation

ORPHA:108959

Non-syndromic gastroduodenal malformation

ORPHA:108963

Non-syndromic H-type fistula

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

ORPHA:601033

Non-syndromic intestinal malformation

ORPHA:108967

Non-syndromic limb malformation

ORPHA:109011

Non-syndromic perineal fistula

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

ORPHA:600952

Non-syndromic pouch colon

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

ORPHA:601013

Non-syndromic rectal atresia

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

ORPHA:601018

Non-syndromic rectal stenosis

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

ORPHA:601023

Non-syndromic rectovaginal fistula

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

ORPHA:601028

Non-syndromic rectovesical fistula

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

ORPHA:600984

Non-syndromic renal or urinary tract malformation

ORPHA:93546

Non-syndromic urogenital tract malformation

ORPHA:165704

Non-syndromic urogenital tract malformation of male

ORPHA:182121

Non-syndromic urogenital tract malformation of male and female

ORPHA:182124

Non-syndromic uterovaginal malformation

ORPHA:180065

Non-syndromic vestibular fistula

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

ORPHA:600993

Rare congenital non-syndromic heart malformation

ORPHA:88991