-G-
GM1 gangliosidosis, type 1
– Beta-galactosidase-1 deficiency
– GLB1 deficiency
– Gene map locus 3p21.33
Garre disease
– Primary chronic sclerosing osteomyelitis
– Proliferative periostitis
– Sclerosing periostitis
– Sclerosing osteomyelitis
Gaucher disease
– Glucocerebrosidase deficiency
– Acid beta-glucosidase deficiency
– GBA deficiency
Glycogen storage disease (GSD)
– Glycogenosis
Goldenhar syndrome
– Oculo-auriculo-vertebral anomaly
– Goldenhar-Gorlin syndrome
– Hemifacial microsomia
Guillain-Barre syndrome
-H-
Hailey-Hailey disease
– Chronic benign familial pemphigus
Hemoglobinuria, paroxysmal nocturnal (PNH)
– Marchiafava-Micheli disease
Hereditary angioedema
Homocystinuria
– Cystathionine beta-synthase deficiency
– Homocystinuria due to cystathionine beta-synthase deficiency
Huntington disease
– Huntington chorea
Hystiocitosis X
– Eosinophilic granulomatosis
– Pulmonary Langerhans cell histiocytosis
– Nonlipid reticuloendotheliosis
– Hand-Schuller-Christian disease
– Letterer-Siwe disease
Hyperammonemia
– N-acetylglutamate synthase deficiency
Hypomagnesemia, familial, with hypercalciuria and nephrocalcinosis
– Hypomagnesemia renal type 3, HOMG3
-I-
Ichthyosis
Idiopathic CD4 lymphocytopenia
Interstitial cystitis
– Bladder pain syndrome
-J-
Job syndrome
– Autosomal dominant hyperimmunoglobulin E syndrome (AD-HIES)
– Buckley syndrome
– Hyperimmunoglobulin E syndrome type 1
– Hyperimmunoglobulin E-recurrent infection syndrome
-K-
Klinefelter syndrome
– 47 XXY syndrome
-L-
Lennox-Gastaut syndrome
Leukodystrophy, metachromatic
– Arylsulfatase A deficiency
Limb girdle muscular dystrophy, type 2A
– Leyden-Moebius pelvofemoral muscular dystrophy
– Calpainopathy
-M-
Mastocytosis
Melanocytic nevus
Moschcowitz syndrome
– Thrombotic thrombocytopenic purpura
– Microangiopathic hemolytic anemia
– Familial thrombotic microangiopathy
– Upshaw-Schulman syndrome
– Schulman-Upshaw syndrome
– Upshaw factor deficiency
– Congenital microangiopathic hemolytic anemia
Mucoviscidosis
– Cystic fibrosis
Mucopolysaccharidosis, type 2
– Hunter syndrome
Mucopolysaccharidosis type 3
– Sanfilippo disease
Myasthenia gravis
– Erb-Goldflam disease
Myelodysplastic syndromes