Rare Disease Library

Aplasia of lacrimal and salivary glands

ALSG · Congenital absence of lacrimal puncta and salivary glands

Isolated acheiria

Isolated congenital absence of hand

Isolated partial vaginal agenesis

Congenital absence of vagina

Mayer-Rokitansky-Küster-Hauser syndrome type 1

Congenital absence of uterus and vagina · MRKH syndrome type 1

Phocomelia, Schinzel type

Al Awadi-Raas-Rothschild syndrome · Aplasia/hypoplasia of limbs and pelvis

Pulmonary valve agenesis

Congenital absence of the pulmonary valve · PVA