Rare Disease Library

Cerebellar ataxia-hypogonadism syndrome

Gordon-Holmes syndrome · Luteinizing hormone-releasing hormone deficiency with ataxia

Absent tibia-polydactyly-arachnoid cyst syndrome

Holmes-Collins syndrome

Acrogeria

Acrogeria, Gottron type · Acrometageria

Acropectorovertebral dysplasia

F syndrome

Antiphospholipid syndrome

Classic antiphospholipid syndrome · APLS

Autoimmune polyendocrinopathy type 1

APECED syndrome · APS type 1

Autosomal recessive spastic paraplegia type 23

Lison syndrome · SPG23

B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome

BILU syndrome · Hoffman syndrome

Balint syndrome

Balint-Holmes syndrome · Optic ataxia-gaze apraxia-simultanagnosia syndrome

C syndrome

OTCS · Opitz C trigonocephaly

Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome

Mehes syndrome

Diethylstilbestrol syndrome

DES embryofetopathy · DES syndrome

Donnai-Barrow syndrome

DBS/FOAR syndrome · Diaphragmatic hernia-exomphalos-hypertelorism syndrome

Double uterus-hemivagina-renal agenesis syndrome

Double uterus and obstructed hemivagina syndrome · OHVIRA syndrome

Ear-patella-short stature syndrome

Meier-Gorlin syndrome

Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome

Friedman-Goodman syndrome · FACES syndrome

Focal dermal hypoplasia

Goltz syndrome · Goltz-Gorlin syndrome

Frontofacionasal dysplasia

Gollop syndrome

Galactosialidosis

Goldberg syndrome · Neuraminidase deficiency with beta-galactosidase deficiency

GAPO syndrome

Growth delay-alopecia-pseudoanodontia-optic atrophy syndrome

Gingival fibromatosis-progressive deafness syndrome

Jones syndrome · Gingival fibromatosis-progressive hearing loss syndrome

Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome

GEMSS syndrome

Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome

GLOW syndrome

GMS syndrome

Goniodysgenesis-intellectual disability-short stature syndrome

Goldenhar syndrome

Facioauriculovertebral sequence

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

H syndrome

Hallux varus-preaxial polysyndactyly syndrome

Kleiner-Holmes syndrome

HANAC syndrome

Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome · Hereditary angiopathy-nephropathy-aneurysms-muscle cramps syndrome

HARP syndrome

Hypoprebetalipoproteinemia-acanthocytosis-retinitis pigmentosa-pallidal degeneration syndrome

HEC syndrome

Hydrocephalus-endocardial fibroelastosis-cataract syndrome

HELLP syndrome

Hemolysis, elevated liver enzymes, low platelets in pregnancy · Hemolysis-elevated liver enzymes-low platelets syndrome

Hemiconvulsion-hemiplegia-epilepsy syndrome

HHE · HHE syndrome

Hemidystonia-hemiatrophy syndrome

HD-HA syndrome

Hemiparkinsonism-hemiatrophy syndrome

HP-HA syndrome

HERNS syndrome

Hereditary endotheliopathy-retinopathy-nephropathy-stroke syndrome

HIDEA syndrome

Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome

Holmes-Adie syndrome

Tonic pupil-tendon areflexia syndrome · Adie syndrome

Holmes-Gang syndrome

Holoprosencephaly-craniosynostosis syndrome

Camero-Lituania-Cohen syndrome · Genoa syndrome

Holt-Oram syndrome

Atriodigital dysplasia type 1 · HOS

Holzgreve syndrome

Holzgreve-Wagner-Rehder syndrome · Cleft palate-Potter sequence-congenital heart anomalies-mesoaxial polydactyly-multiple malformations syndrome

Hyperinsulinism-hyperammonemia syndrome

HI/HA syndrome