Rare Disease Library

Non-syndromic amelia

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 bicoronal and metopic craniosynostosis

Isolated bicoronal and metopic craniosynostosis · Non-syndromic bilateral coronal and metopic suture synostosis

Non-syndromic bicoronal and sagittal craniosynostosis

Isolated bicoronal and sagittal craniosynostosis · Non-syndromic sagittal and bilateral coronal synostosis

Non-syndromic bicoronal craniosynostosis

Isolated synostotic brachycephaly · Isolated bicoronal craniosynostosis

Non-syndromic bilambdoid and sagittal craniosynostosis

Non-syndromic sagittal and bilateral lambdoid synostosis · Bilateral lambdoid and sagittal synostosis

Non-syndromic bilambdoid craniosynostosis

Isolated bilambdoid craniosynostosis · Non-syndromic bilateral lambdoid synostosis

Non-syndromic bridging bronchus

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 complete hemimelia

Non-syndromic complex polydactyly

Non-syndromic congenital bronchial atresia

Non-syndromic CBA

Non-syndromic congenital phagocyte functional defect

Non-syndromic constitutional functional phagocyte defect · Non-syndromic congenital functional defect of phagocytes

Non-syndromic craniosynostosis

Isolated craniosynostosis

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 hemimelia

Non-syndromic longitudinal meromelia

Non-syndromic intercalary limb defects

Non-syndromic intercalary meromelia

Non-syndromic intestinal malformation

Non-syndromic joint formation defects

Non-syndromic limb malformation

Non-syndromic limb overgrowth

Non-syndromic limb reduction defect

Non-syndromic limb hypoplasia

Non-syndromic longitudinal limb defect

Non-syndromic male infertility due to sperm motility disorder

Non-syndromic male infertility due asthenozoospermia

Non-syndromic metopic and sagittal craniosynostosis

Isolated metopic and sagittal craniosynostosis · Non-syndromic metopic and sagittal suture synostosis

Non-syndromic metopic craniosynostosis

Isolated metopic craniosynostosis · Non-syndromic metopic suture synostosis

Non-syndromic multisutural craniosynostosis

Isolated multisutural craniosynostosis · Non-syndromic multiple suture synostosis

Non-syndromic non-specific multisutural craniosynostosis

Isolated non-specific multisutural craniosynostosis · Non-syndromic non-specific multiple suture synostosis

Non-syndromic pansynostosis

Isolated pansynostosis · Non-syndromic synostosis of all cranial vault sutures

Non-syndromic perineal fistula

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

Non-syndromic polydactyly

Non-syndromic polydactyly, syndactyly and/or hyperphalangy

Non-syndromic postaxial polydactyly

Non-syndromic posterior hypospadias

Perineal, scrotal or penoscrotal hypospadias · Hypospadias, severe form

Non-syndromic pouch colon

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

Non-syndromic preaxial polydactyly

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