Rare Disease Library

Acrokeratoelastoidosis of Costa

AKE · PPKP3

Cutis verticis gyrata-thyroid aplasia-intellectual disability syndrome

Akesson syndrome

Blake pouch cyst

Congenital hypothyroidism due to maternal intake of antithyroid drugs

Dyssegmental dysplasia, Silverman-Handmaker type

Kufor-Rakeb syndrome

PARK9

Non-24-hour sleep-wake syndrome

Hypernychthemeral syndrome

NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance

Post-selective serotonin reuptake inhibitor sexual dysfunction

PSSD · Post-SSRI sexual dysfunction

Schuurs-Hoeijmakers syndrome

PACS1-NDD · PACS1-neurodevelopmental disorder

Snakebite envenomation

Snowflake vitreoretinal degeneration

Takenouchi-Kosaki syndrome

Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome