Rare Disease Library

Ermine phenotype

O'Doherty syndrome · Pigmentary disorder with hearing loss

Autosomal recessive distal renal tubular acidosis with deafness

AR dRTA with deafness · AR dRTA with hearing loss

Duane retraction syndrome with congenital deafness

Duane retraction syndrome with congenital hearing loss · DURS with hearing loss

OBSOLETE: Pigmentation disorder with eye involvement

Rare disorder with pigmented sclera

X-linked reticulate pigmentary disorder

Familial cutaneous amyloidosis · PDR