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"

70 matching diseasesClear search ×

Non-syndromic cerebral malformation

Non-syndromic brain malformation

ORPHA:199633

Aortic malformation

ORPHA:98718

Biliary atresia with splenic malformation syndrome

BASM syndrome

ORPHA:244283

Blepharonasofacial malformation syndrome

Pashayan syndrome · Pashayan-Pruzansky syndrome

ORPHA:1252

Brain arteriovenous malformation

Cerebral arteriovenous malformation

ORPHA:46724

Bronchial malformation

ORPHA:649014

Dentinogenesis imperfecta

DGI · DGI without OI

ORPHA:49042

Edinburgh malformation syndrome

Typus Edinburgensis

ORPHA:1895

Genetic cerebral malformation

Genetic brain malformation

ORPHA:269553

Genetic malformation syndrome with short stature

ORPHA:183570

Genetic non-syndromic central nervous system malformation

ORPHA:269550

Genetic non-syndromic renal or urinary tract malformation

ORPHA:357506

Genetic syndromic esophageal malformation

ORPHA:371445

Lower limb malformation-hypospadias syndrome

Fried-Goldberg-Mundel syndrome

ORPHA:2487

Malformation syndrome with hamartosis

Dysmorphologic diseases with phakomatosis

ORPHA:98196

Malformation syndrome with short stature

ORPHA:139021

Megalencephaly-capillary malformation-polymicrogyria syndrome

MCAP · MCM

ORPHA:60040

Microcephaly-capillary malformation syndrome

MIC-CAP syndrome · MIC-CM syndrome

ORPHA:294016

Midline cerebral malformation

Midline brain malformation

ORPHA:268926

Non-syndromic amelia

ORPHA:294925

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 due to abnormal neuronal migration

Brain malformation due to abnormal neuronal migration

ORPHA:163209

Non-syndromic cloacal malformation

ORPHA:600998

Non-syndromic congenital bronchial atresia

Non-syndromic CBA

ORPHA:649010

Non-syndromic diaphragmatic or abdominal wall malformation

ORPHA:108977

Non-syndromic diaphragmatic or thoracic malformation

ORPHA:180776

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 joint formation defects

ORPHA:294949

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 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

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 respiratory or mediastinal malformation

ORPHA:108993

Non-syndromic syndactyly

ORPHA:90025

Non-syndromic urogenital tract malformation

ORPHA:165704