Rare Disease Library

Gerstmann-Straussler-Scheinker syndrome

Subacute spongiform encephalopathy, Gerstmann-Straussler type

Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome

Glutamate-cysteine ligase deficiency

Gamma-glutamylcysteine synthetase deficiency

Glycoproteinosis

GNAO1-related developmental delay-seizures-movement disorder spectrum

GNAO1-related spectrum · GNAO1-related neurodevelopmental disorder

Greig cephalopolysyndactyly syndrome

GCPS

Greig cephalopolysyndactyly-contiguous gene syndrome

GCP-CGS

Hallermann-Streiff syndrome

François dyscephalic syndrome · Oculomandibulofacial syndrome

Hallermann-Streiff-like syndrome

Dennis-Fairhurst-Moore syndrome · Hallermann-Streiff-François syndrome, severe form

Heiner syndrome

Cow's milk-induced pulmonary hypersensitivity syndrome

Hepatitis B reinfection following liver transplantation

Hereditary leiomyomatosis and renal cell cancer

Familial leiomyomatosis and renal cell cancer · Familial leiomyomatosis cutis et uteri

Hereditary persistence of alpha-fetoprotein

Hereditary pulmonary alveolar proteinosis

Congenital PAP · Congenital pulmonary alveolar proteinosis

Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency

Hereditary thrombophilia due to congenital HRG deficiency

Hoyeraal-Hreidarsson syndrome

Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome

Hurler-Scheie syndrome

MPS1H/S · MPSIH/S

Hyperlipoproteinemia type 1

HLP type 1

Hypoalphalipoproteinemia

Hypobetalipoproteinemia

Idiopathic panuveitis

Idiopathic posterior uveitis

Immunodeficiency due to a complement cascade protein anomaly

Infantile onset panniculitis with uveitis and systemic granulomatosis

Infectious anterior uveitis

Infectious panuveitis

Infectious posterior uveitis

Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome

Skraban-Deardorff syndrome

Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome

MCAHS type 3 · Multiple congenital anomalies-hypotonia-seizures syndrome type 3

Intellectual disability-seizures-macrocephaly-obesity syndrome

Der(8)t(8;12)

Intermediate uveitis

IU

IRF2BPL-related regressive neurodevelopmental disorder-dystonia-seizures syndrome

Isolated acheiria

Isolated congenital absence of hand

Isolated acheiropodia

Isolated acheiropody

Isolated idiopathic anterior uveitis

Isolated IAU

Isolated Klippel-Feil syndrome

Congenital cervical vertebral fusion · Congenital fused cervical segments

Isolated mesenteric vein thrombosis

Isolated splenic vein thrombosis

Jackson-Weiss syndrome

Craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome · JWS

Juvenile-onset Steinert myotonic dystrophy

Juvenile-onset Steinert disease · Juvenile-onset myotonic dystrophy type 1

Keipert syndrome

Nasodigitoacoustic syndrome

Kleine-Levin syndrome

Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome

Late-onset Steinert myotonic dystrophy

Late-onset Steinert disease · Late-onset myotonic dystrophy type 1

Leigh syndrome

Infantile subacute necrotizing encephalopathy · Leigh disease

Leigh syndrome with cardiomyopathy

Cardiomyopathy with hypotonia due to cytochrome C oxidase deficiency · Cardiomyopathy with myopathy due to COX deficiency

Leigh syndrome with leukodystrophy

Infantile subacute necrotizing encephalopathy with leukodystrophy · Leigh disease with leukodystrophy

Leigh syndrome with nephrotic syndrome

Infantile subacute necrotizing encephalopathy with nephrotic syndrome · Leigh disease with nephrotic syndrome