Rare Disease Library

Holt-Oram syndrome

Atriodigital dysplasia type 1 · HOS

Atelosteogenesis type II

Atelosteogenesis type 2 · De la Chapelle dysplasia

Dentin dysplasia type I

DD-I · DTDP1

Dentin dysplasia type II

DD-II · DTDP2

Focal facial dermal dysplasia type I

Bitemporal aplasia cutis congenita · Brauer syndrome

Frontonasal dysplasia-alopecia-genital anomalies syndrome

ALX4-related FNDAG · Craniofrontonasal dysplasia with alopecia and hypogonadism

Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome

ALX1-related frontonasal dysplasia · Frontonasal dysplasia type 3

Frontorhiny

Frontonasal dysplasia type 1 · ALX3-related frontonasal dysplasia

Greenberg dysplasia

Hydrops-ectopic calcification-motheaten syndrome · Skeletal dysplasia, Greenberg type

Heart-hand syndrome

Atriodigital dysplasia

Heart-hand syndrome type 2

Atriodigital dysplasia type 2 · Tabatznik syndrome

Heart-hand syndrome type 3

Atriodigital dysplasia type 3 · Cardiomelic syndrome type 3

Heart-hand syndrome, Slovenian type

Atriodigital dysplasia, Slovenian type · Cardiac conduction disease-dilated cardiomyopathy-brachydactyly syndrome

Hip dysplasia, Beukes type

BFHD · Beukes familial hip dysplasia

Isolated focal cortical dysplasia type II

Cortical dysplasia, Taylor type · FCD type II

Multiple epiphyseal dysplasia type 1

EDM1 · MED1

Oculodentodigital dysplasia

Oculo-dento-digital dysplasia · ODOD syndrome

Thanatophoric dysplasia type 1

TD1 · Thanatophoric dwarfism type 1