Rare Disease Library

Non-acquired combined pituitary hormone deficiency

Congenital combined pituitary hormone deficiency · Congenital hypopituitarism

Acquired pituitary hormone deficiency

Aromatase deficiency

Congenital estrogen deficiency

Combined deficiency of factor V and factor VIII

F5F8D · FV and FVIII combined deficiency

Combined pituitary hormone deficiencies, genetic forms

Familial congenital hypopituitarism · Multiple pituitary hormone deficiencies, genetic forms

Congenital enteropathy due to enteropeptidase deficiency

Congenital enterokinase deficiency

Congenital factor II deficiency

Dysprothrombinemia · Hypoprothrombinemia

Congenital factor V deficiency

Owren disease · Parahemophilia

Congenital factor VII deficiency

Congenital proconvertin deficiency · Hypoproconvertinemia

Congenital factor X deficiency

Congenital Stuart factor deficiency · Stuart-Prower factor deficiency

Congenital factor XI deficiency

Hemophilia C · PTA deficiency

Congenital factor XII deficiency

Congenital Hageman factor deficiency

Congenital factor XIII deficiency

Fibrin-stabilizing factor deficiency

Congenital fibrinogen deficiency

Congenital isolated ACTH deficiency

Congenital lactase deficiency

Congenital neutropenia-combined immunodeficiency due to MKL1 deficiency

MKL1-related neutrophil motility defect · Congenital neutropenia-combined immunodeficiency due to Megakaryoblastic leukemia 1 deficiency

Congenital plasminogen activator inhibitor type 1 deficiency

Congenital PAI-1 deficiency

Congenital prekallikrein deficiency

Congenital thrombotic thrombocytopenic purpura

Congenital ADAMTS-13 deficiency · Congenital TTP

Congenital vertebral-cardiac-renal anomalies syndrome

Congenital NAD deficiency disorder

Disease associated with non-acquired combined pituitary hormone deficiency

Encephalopathy due to prosaposin deficiency

Combined prosaposin deficiency

Hemophilia A

Congenital Factor VIII deficiency · Congenital F8 deficiency

Hemophilia B

Congenital F9 deficiency · Christmas disease

Hereditary thrombophilia due to congenital antithrombin deficiency

Hereditary thrombophilia due to congenital antithrombin 3 deficiency

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

Hereditary thrombophilia due to congenital HRG deficiency

Isolated femoral agenesis/hypoplasia

Isolated congenital femoral deficiency · Isolated congenital short femur

Isolated growth hormone deficiency type IA

Congenital IGHD type IA · Congenital isolated GH deficiency type IA

Isolated growth hormone deficiency type IB

Congenital IGHD type IB · Congenital isolated GH deficiency type IB

Isolated growth hormone deficiency type II

Congenital IGHD type II · Congenital isolated GH deficiency type II

Isolated growth hormone deficiency type III

Congenital IGHD type III · Congenital isolated GH deficiency type III

Isolated humeral agenesis/hypoplasia

Isolated humeral intercalary meromelia · Isolated congenital absence of humerus

Isolated proximal femoral focal deficiency

PFFD · CPFD

Mild hemophilia A

Mild congenital factor VIII deficiency · Mild congenital F8 deficiency

Mild hemophilia B

Mild congenital factor IX deficiency · Mild congenital F9 deficiency

Mitochondrial disorder due to a defect in mitochondrial protein synthesis

Combined OXPHOS defect · Combined OXPHOS deficiency

Moderate hemophilia A

Moderate congenital factor VIII deficiency · Moderate congenital F8 deficiency

Moderate hemophilia B

Moderate congenital F9 deficiency · Moderate congenital factor IX deficiency

Non-acquired combined pituitary hormone deficiencies without extrapituitary malformations

Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome

Non-acquired combined pituitary hormone deficiency-deafness-rigid cervical spine syndrome

Non-acquired isolated growth hormone deficiency

Congenital IGHD · Congenital isolated GH deficiency

Non-acquired pituitary hormone deficiency

OBSOLETE: Metastatic pituitary hormone deficiency

Pituitary deficiency

Pituitary hormone deficiency of meningeal origin

Pituitary hormone deficiency of tumoral origin

Pituitary hormone deficiency of vascular origin