Rare Disease Library

GMS syndrome

Goniodysgenesis-intellectual disability-short stature syndrome

GNAO1-related developmental delay-seizures-movement disorder spectrum

GNAO1-related spectrum · GNAO1-related neurodevelopmental disorder

Gnathodiaphyseal dysplasia

GDD

GNB5-related intellectual disability-cardiac arrhythmia syndrome

GNE myopathy

DMRV · Distal myopathy with rimmed vacuoles

Goblet cell carcinoma

GCC · Goblet cell adenocarcinoid

Goldberg-Shprintzen megacolon syndrome

GOSHS · Megacolon-microcephaly syndrome

Goldenhar syndrome

Facioauriculovertebral sequence

Goldmann-Favre syndrome

Enhanced S-cone syndrome · Retinoschisis with early nyctalopia

Gollop-Wolfgang complex

Bifid femur-monodactylous ectrodactyly syndrome

Gómez-López-Hernández syndrome

Cerebellotrigeminal-dermal dysplasia syndrome · Craniosynostosis-alopecia-brain defect syndrome

Gonadal dysgenesis of gynecological interest

Gonadal germ cell tumor

Gonadoblastoma

Gonococcal conjunctivitis

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

GRACILE syndrome

Fellman disease · Growth restriction-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome

Graft versus host disease

GvHD

Graham Little-Piccardi-Lassueur syndrome

Graham Little syndrome · Piccardi-Lassueur-Little syndrome

Grange syndrome

Grange occlusive arterial syndrome · Progressive arterial occlusive disease-hypertension-heart defects-bone fragility-brachysyndactyly syndrome

Grant syndrome

Granular corneal dystrophy type I

Classic GCD · Classic granular corneal dystrophy

Granular corneal dystrophy type II

Avellino corneal dystrophy · GCD2

Granuloma faciale

Facial granuloma of Lever · Granuloma of Lever

Granulomatosis with polyangiitis

GPA · Wegener granulomatosis

Granulomatous arthritis of childhood

Autoinflammatory granulomatosis of childhood · Granulomatous inflammatory arthritis, dermatitis, and uveitis

Granulomatous autoinflammatory syndrome

Granulomatous autoinflammatory syndrome of childhood

Granulomatous mastitis

Idiopathic granulomatous mastitis · IGM

Granulomatous slack skin

Gray platelet syndrome

Alpha storage pool deficiency · GPS

Grayson-Wilbrandt corneal dystrophy

GWCD

Greenberg dysplasia

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

Greig cephalopolysyndactyly syndrome

GCPS

Greig cephalopolysyndactyly-contiguous gene syndrome

GCP-CGS

GRFoma

GRF tumor · Growth hormone releasing factor tumor

GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder

GRIN2B-Related Neurodevelopmental Disorder

Griscelli syndrome

Chédiak-Higashi-like syndrome · Griscelli-Pruniéras syndrome

Griscelli syndrome type 1

Griscelli-Pruniéras syndrome type 1 · Hypopigmentation-neurologic impairment syndrome

Griscelli syndrome type 2

Griscelli-Pruniéras syndrome type 2 · Hypopigmentation-immunodeficiency with or without neurologic impairment syndrome

Griscelli syndrome type 3

Griscelli-Pruniéras syndrome type 3

Grisel syndrome

Atlantoaxial non-traumatic subluxation

Growing teratoma syndrome

Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome