Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form
ORPHA:308670Aromatase deficiency
ORPHA:91Congenital deficiency in alpha-fetoprotein
ORPHA:168612Congenital enteropathy due to enteropeptidase deficiency
ORPHA:168601Congenital factor II deficiency
ORPHA:325Congenital factor V deficiency
ORPHA:326Congenital factor VII deficiency
ORPHA:327Congenital factor X deficiency
ORPHA:328Congenital factor XI deficiency
ORPHA:329Congenital factor XII deficiency
ORPHA:330Congenital factor XIII deficiency
ORPHA:331Congenital fibrinogen deficiency
ORPHA:335Congenital high-molecular-weight kininogen deficiency
ORPHA:483Congenital intrinsic factor deficiency
ORPHA:332Congenital isolated ACTH deficiency
ORPHA:199296Congenital lactase deficiency
ORPHA:53690Congenital muscular dystrophy with integrin alpha-7 deficiency
ORPHA:34520Congenital neutropenia-combined immunodeficiency due to MKL1 deficiency
ORPHA:619941Congenital plasminogen activator inhibitor type 1 deficiency
ORPHA:465Congenital prekallikrein deficiency
ORPHA:749Congenital sucrase-isomaltase deficiency
ORPHA:35122Congenital thrombotic thrombocytopenic purpura
ORPHA:93583Congenital vertebral-cardiac-renal anomalies syndrome
ORPHA:521438Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form
ORPHA:308712Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form
ORPHA:308698Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form
ORPHA:308655Hemophilia A
ORPHA:98878Hemophilia B
ORPHA:98879Isolated femoral agenesis/hypoplasia
ORPHA:1987Isolated growth hormone deficiency type IA
ORPHA:231662Isolated growth hormone deficiency type IB
ORPHA:231671Isolated growth hormone deficiency type II
ORPHA:231679Isolated growth hormone deficiency type III
ORPHA:231692Isolated humeral agenesis/hypoplasia
ORPHA:294973Laminin subunit alpha 2-related congenital muscular dystrophy
ORPHA:258Mild hemophilia A
ORPHA:169808Mild hemophilia B
ORPHA:169799Moderate hemophilia A
ORPHA:169805Moderate hemophilia B
ORPHA:169796Non-acquired isolated growth hormone deficiency
ORPHA:631Severe congenital neutropenia due to G6PC3 deficiency
ORPHA:331176Severe hemophilia A
ORPHA:169802Severe hemophilia B
ORPHA:169793