Rare Disease Library

Goldenhar syndrome

Facioauriculovertebral sequence

Goldmann-Favre syndrome

Enhanced S-cone syndrome · Retinoschisis with early nyctalopia

Goodman syndrome

ACPS4 · Acrocephalopolysyndactyly type 4

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

Gorlin-Chaudhry-Moss syndrome

Craniofacial dysostosis-genital, dental, cardiac anomalies syndrome · Cranofacial dysostosis-hypertrichosis-hypoplasia of labia majora syndrome

Grant syndrome

Growth deficiency-brachydactyly-dysmorphism syndrome

Frias syndrome

Growth delay-hydrocephaly-lung hypoplasia syndrome

Game-Friedman-Paradice syndrome

H syndrome

Hinman syndrome

HAS · HS

Holoprosencephaly-craniosynostosis syndrome

Camero-Lituania-Cohen syndrome · Genoa syndrome

Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome

Passwell-Goodman-Siprkowski syndrome

Interstitial granulomatous dermatitis with arthritis

Ackerman dermatitis syndrome · IGDA

IRVAN syndrome

Idiopathic retinal vasculitis-aneurysms-neuroretinitis syndrome

Lateral meningocele syndrome

Lehman syndrome

Lower limb malformation-hypospadias syndrome

Fried-Goldberg-Mundel syndrome

Lujan-Fryns syndrome

X-linked intellectual disability with marfanoid habitus

MEPAN syndrome

Mitochondrial enoyl CoA reductase protein-associated neurodegeneration syndrome · Autosomal recessive childhood-onset dystonia, DYT29 type

N syndrome

Neuroectodermal-endocrine syndrome

Oerter-Friedman-Anderson syndrome

NPHP3-related Meckel-like syndrome

Goldston syndrome · Meckel syndrome type 7

OBSOLETE: Ichthyosis-cheek-eyebrow syndrome

OBSOLETE: Sidransky-Feinstein-Goodman syndrome

Oculocerebrocutaneous syndrome

Delleman syndrome · Delleman-Oorthuys syndrome

Odontochondrodysplasia

Chondrodysplasia-dentinogenesis imperfecta-joint laxity syndrome · Goldblatt chondrodysplasia

Opitz GBBB syndrome

Hypertelorism-oesophageal abnormality-hypospadias syndrome · Hypospadias-dysphagia syndrome

Orofaciodigital syndrome type 3

OFD3 · Oral-facial-digital syndrome type 3

Perlman syndrome

Nephroblastomatosis-fetal ascites-macrosomia-Wilms tumor syndrome

Roifman syndrome

Spondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndrome

Shwachman-Diamond syndrome

Pancreatic insufficiency and bone marrow dysfunction · SDS

Symphalangism with multiple anomalies of hands and feet

Learman syndrome

Thymoma-hypogammaglobulinemia syndrome

Good syndrome

W syndrome

Pallister-W syndrome