Rare Disease Library

Growth deficiency-brachydactyly-dysmorphism syndrome

Frias syndrome

Growth delay due to insulin-like growth factor I resistance

Resistance to IGF-1

Growth delay due to insulin-like growth factor type 1 deficiency

Growth delay-hearing loss-intellectual disability syndrome · IGF-1 deficiency

Growth delay-hydrocephaly-lung hypoplasia syndrome

Game-Friedman-Paradice syndrome

Growth delay-intellectual disability-hepatopathy syndrome

Growth hormone insensitivity syndrome

GHIS · Short stature due to a defect in growth hormone receptor or post-receptor pathway

Growth retardation-mild developmental delay-chronic hepatitis syndrome

Grubben-de Cock-Borghgraef syndrome

Developmental delay-hypotonia-extremities hypertrophy syndrome

GTP cyclohydrolase I deficiency

GTPCH deficiency · Hyperphenylalaninemia due to GTP cyclohydrolase deficiency

Guanidinoacetate methyltransferase deficiency

GAMT deficiency

Guillain-Barré syndrome

GBS · Guillain-Barré-Strohl syndrome

Guttmacher syndrome

Preaxial deficiency-postaxial polydactyly-hypospadias syndrome

Gynandroblastoma

Gyrate atrophy of choroid and retina

HOGA · Hyperornithinemia

H syndrome

Haddad syndrome

Congenital central alveolar hypoventilation-Hirschsprung disease syndrome · Ondine-Hirschsprung disease

Hailey-Hailey disease

Benign chronic familial pemphigus

Haim-Munk syndrome

Keratosis palmoplantaris-periodontopathia-onychogryposis syndrome · Palmoplantar hyperkeratosis-periodontopathia-onychogryposis syndrome

Hair anomaly

Hair defect-photosensitivity-intellectual disability syndrome

Calderón-González-Cantu syndrome

Hairy cell leukemia variant

Prolymphocytic variant of HCL · Prolymphocytic variant of hairy cell leukemia

Hajdu-Cheney syndrome

Acroosteolysis dominant type · Acroosteolysis with osteoporosis and changes in skull and mandible

Hall-Riggs syndrome

Hallermann-Streiff syndrome

François dyscephalic syndrome · Oculomandibulofacial syndrome

Hallermann-Streiff-like syndrome

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

Hallux varus-preaxial polysyndactyly syndrome

Kleiner-Holmes syndrome

Hamel cerebro-palato-cardiac syndrome

HANAC syndrome

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

Hand-foot-genital syndrome

HFGS · Hand-foot-uterus syndrome

Hantavirus pulmonary syndrome

Hao-Fountain syndrome

HAFOUS

Hao-Fountain syndrome due to 16p13.2 microdeletion

Del(16)(p13.2) · Monosomy 16p13.2

Hao-Fountain syndrome due to USP7 mutation

HAFOUS due to USP7 mutation

Harderoporphyria

Hardikar syndrome

Cholestasis-pigmentary retinopathy-cleft palate syndrome · HDKR

Harlequin ichthyosis

HI · Ichthyosis congenita, Harlequin type

Harlequin syndrome

Progressive isolated segmental anhidrosis

HARP syndrome

Hypoprebetalipoproteinemia-acanthocytosis-retinitis pigmentosa-pallidal degeneration syndrome

Harrod syndrome

Cranio-facio-digito-genital syndrome

Hartnup disease

Aminoaciduria, Hartnup type · Hartnup disorder

Hartsfield syndrome

Holoprosencephaly-ectrodactyly-cleft lip/palate syndrome

Hawkinsinuria

4-HPPD deficiency · 4-alpha-hydroxyphenylpyruvate hydroxylase deficiency

Hearing loss-familial salivary gland insensitivity to aldosterone syndrome

Tungland-Bellman syndrome

Heart defect-tongue hamartoma-polysyndactyly syndrome

Ostravik-Lindemann-Solberg syndrome

Heart defects-limb shortening syndrome

Heart position anomaly

Heart-hand syndrome

Atriodigital dysplasia

Heart-hand syndrome type 2

Atriodigital dysplasia type 2 · Tabatznik syndrome