Rare Disease Library

Androgen insensitivity syndrome

AIS · Androgen resistance syndrome

Autosomal recessive spastic paraplegia type 21

Mast syndrome · SPG21

Brachydactyly-elbow wrist dysplasia syndrome

Brachydactyly-joint dysplasia syndrome · Liebenberg syndrome

Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy

Maeda syndrome · CARASIL

Colobomatous macrophthalmia-microcornea syndrome

MACOM syndrome

Dahlberg-Borer-Newcomer syndrome

Lymphedema-hypoparathyroidism syndrome · Dahlberg syndrome

Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome

Cardiogenital syndrome · Malouf syndrome

Female restricted epilepsy with intellectual disability

Juberg-Hellman syndrome · EFMR

Fibrous dysplasia/McCune-Albright syndrome

Fibrous dysplasia/McCune-Albright spectrum · FD/MAS spectrum

Focal dermal hypoplasia

Goltz syndrome · Goltz-Gorlin syndrome

Fragile X syndrome

FRAXA syndrome · FXS

Frontofacionasal dysplasia

Gollop syndrome

Galactosialidosis

Goldberg syndrome · Neuraminidase deficiency with beta-galactosidase deficiency

Goldberg-Shprintzen megacolon syndrome

GOSHS · Megacolon-microcephaly syndrome

Goldenhar syndrome

Facioauriculovertebral sequence

Goldmann-Favre syndrome

Enhanced S-cone syndrome · Retinoschisis with early nyctalopia

Gordon syndrome

Distal arthrogryposis type 3 · Distal arthrogryposis type IIA

Gorham-Stout disease

Gorham disease · Gorham syndrome

Gorlin syndrome

Basal cell nevus syndrome · Gorlin-Goltz syndrome

Hyperphosphatasia-intellectual disability syndrome

Mabry syndrome

Hypospadias-intellectual disability, Goldblatt type syndrome

Goldblatt-Wallis syndrome

Juberg-Marsidi syndrome

Lower limb malformation-hypospadias syndrome

Fried-Goldberg-Mundel syndrome

MAGIC syndrome

Mouth and genital ulcers-inflamed cartilage syndrome

Majeed syndrome

Chronic recurrent multifocal osteomyelitis-congenital dyserythropoietic anemia-neutrophilic dermatosis syndrome

Marfan syndrome

MFS

Marshall syndrome

MASA syndrome

Intellectual disability-aphasia-shuffling gait-adducted thumbs syndrome

MASS syndrome

Mitral valve-aorta-skeleton-skin syndrome

Mitchell Syndrome

Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome

MARCH syndrome

NPHP3-related Meckel-like syndrome

Goldston syndrome · Meckel syndrome type 7

Oculotrichoanal syndrome

MOTA syndrome · Manitoba oculotrichoanal syndrome

Odontochondrodysplasia

Chondrodysplasia-dentinogenesis imperfecta-joint laxity syndrome · Goldblatt chondrodysplasia

Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome

Lundberg syndrome

Progressive hemifacial atrophy

Hemifacial atrophy · PHA

Radial ray hypoplasia-choanal atresia syndrome

Goldblatt-Viljoen syndrome

Radiculomegaly of canine teeth- congenital cataract

Marashi-Gorlin syndrome

RIN2 syndrome

MACS syndrome · Macrocephaly-alopecia-cutis laxa-scoliosis syndrome

Rowell syndrome

Shprintzen-Goldberg syndrome

Marfanoid craniosynostosis syndrome · SGS

Thymoma-hypogammaglobulinemia syndrome

Good syndrome

Toxic epidermal necrolysis

Lyell syndrome

Wells syndrome

Eosinophilic cellulitis