Rare Disease Library

Thyrocerebrorenal syndrome

Cutler-Bass-Romshe syndrome

Absence of fingerprints-congenital milia syndrome

Absence of dermatoglyphics-congenital milia syndrome · Baird syndrome

Antley-Bixler syndrome

Baller-Gerold syndrome

Banki syndrome

Barber-Say syndrome

Hypertrichosis-atrophic skin-ectropion-macrostomia syndrome

Barth syndrome

3-methylglutaconic aciduria type 2 · BTHS

Bartter syndrome

Renal tubular normotensive hypokalemic alkalosis with hypercalciuria · Salt-losing tubular disorder, Henle's loop type

Bazex syndrome

Acrokeratosis of Bazex · Acrokeratosis paraneoplastica

Biliary atresia with splenic malformation syndrome

BASM syndrome

C syndrome

OTCS · Opitz C trigonocephaly

Chandler syndrome

Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome

Bassoe syndrome

Developmental and epileptic encephalopathy with spike-wave activation in sleep

CSWS · CSWSS syndrome

Ectopia lentis-chorioretinal dystrophy-myopia syndrome

Noble-Bass-Sherman syndrome

MASS syndrome

Mitral valve-aorta-skeleton-skin syndrome

Oculocerebral hypopigmentation syndrome, Cross type

Cross syndrome

Odontomatosis-aortae esophagus stenosis syndrome

Bader syndrome

PASS syndrome

Pyoderma gangrenosum-acne-hidradenitis suppurativa-ankylosing spondylitis syndrome

Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome

Culler-Jones syndrome

Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome

ROSAH syndrome · Optic nerve edema-splenomegaly syndrome

Rombo syndrome

Rotor syndrome

Hyperbilirubinemia, Rotor type

Usher syndrome

Retinitis pigmentosa-deafness syndrome · USH