Rare Disease Library

Non-syndromic sagittal craniosynostosis

Isolated scaphocephaly · Isolated sagittal craniosynostosis

Non-syndromic syndactyly

Non-syndromic unisutural craniosynostosis

Isolated unisutural craniosynostosis · Non-syndromic single suture synostosis

Non-syndromic vestibular fistula

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

Noonan syndrome

Noonan syndrome-like disorder with juvenile myelomonocytic leukemia

CBL syndrome · Noonan syndrome-like disorder with JMML

OBSOLETE: Rare non-syndromic cataract

Port-wine nevi-mega cisterna magna-hydrocephalus syndrome

Nova syndrome

Rare non-syndromic genetic deafness

Reticular dysgenesis-like severe combined immunodeficiency

Reticular dysgenesis-like SCID · Activated Rac2 defect

Syndromic aniridia

Syndromic cataract

Syndromic hyperopia

Syndromic nail anomaly

Syndromic obesity

Syndromic recessive X-linked ichthyosis

Syndromic RXLI · Recessive X-linked ichthyosis with extracutaneous manifestations

Trichohepatoenteric syndrome

Syndromic diarrhea · Phenotypic diarrhea