Rare Disease Library

Griscelli syndrome

Chédiak-Higashi-like syndrome · Griscelli-Pruniéras syndrome

Abruzzo-Erickson syndrome

CHARGE-like syndrome · Cleft palate-coloboma-deafness syndrome

Attenuated Chédiak-Higashi syndrome

Atypical Chédiak-Higashi syndrome

Autosomal recessive faciodigitogenital syndrome

Aarskog-like syndrome · Facio-digito-genital syndrome, Kuwait type

Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency

PXE-like syndrome · Pseudoxanthoma elasticum-like syndrome

Bohring-Opitz syndrome

BOS syndrome · Bohring syndrome

Chédiak-Higashi syndrome

Chédiak-Higashi disease · Chédiak-Higashi-Steinbrink syndrome

Congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome

Serpentine-like syndrome

Fraser-like syndrome

Hyperinsulinism-hyperammonemia syndrome

HI/HA syndrome

ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement

Martsolf-like syndrome

Laron syndrome with immunodeficiency

Laron-like syndrome · Short stature due to STAT5b deficiency

Legius syndrome

Nonmosaic Legius syndrome · NF1-like syndrome

LIG4 syndrome

DNA ligase IV deficiency · Ligase 4 syndrome

PEHO-like syndrome

Proteus-like syndrome

Robinow-like syndrome

Saal-Greenstein syndrome

Weaver-like syndrome

Wolfram-like syndrome