Rare Disease Library

Focal facial dermal dysplasia type I

Bitemporal aplasia cutis congenita · Brauer syndrome

Aarskog-Scott syndrome

Aarskog syndrome · Faciodigitogenital syndrome

Atelosteogenesis type II

Atelosteogenesis type 2 · De la Chapelle dysplasia

CHIME syndrome

Coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome · Congenital disorder of glycosylation due to PIGL deficiency

Dentin dysplasia type I

DD-I · DTDP1

Dentin dysplasia type II

DD-II · DTDP2

Ectodermal dysplasia syndrome

Ectodermal dysplasia

Ectodermal dysplasia, trichoodontoonychial type

Focal dermal hypoplasia

Goltz syndrome · Goltz-Gorlin syndrome

Focal facial dermal dysplasia

FFDD

Focal facial dermal dysplasia type II

FFDD type II · FFDD2

Focal facial dermal dysplasia type III

FFDD type III · FFDD3

Focal facial dermal dysplasia type IV

FFDD type IV · FFDD4

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

Hidrotic ectodermal dysplasia, Halal type

Halal-Setton-Wang syndrome · Trichodysplasia-abnormal dermatoglyphics-intellectual disability syndrome

Holt-Oram syndrome

Atriodigital dysplasia type 1 · HOS

Isolated focal cortical dysplasia type I

FCD type I

Isolated focal cortical dysplasia type Ia

FCD type Ia

Isolated focal cortical dysplasia type Ib

FCD type Ib

Isolated focal cortical dysplasia type Ic

FCD type Ic

Isolated focal cortical dysplasia type II

Cortical dysplasia, Taylor type · FCD type II

Isolated focal cortical dysplasia type IIa

FCD type IIa

Isolated focal cortical dysplasia type IIb

FCD type IIb

Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome

Berlin syndrome · Ectodermal dysplasia, Berlin type

Multiple epiphyseal dysplasia type 1

EDM1 · MED1

Oculo-oto-facial dysplasia

Rapp-Hodgkin syndrome

Ectodermal dysplasia syndrome, Rapp-Hodgkin type · Ectodermal dysplasia, Rapp-Hodgkin type

Thanatophoric dysplasia type 1

TD1 · Thanatophoric dwarfism type 1