Rare Disease Library

Isolated growth hormone deficiency type III

Congenital IGHD type III · Congenital isolated GH deficiency type III

Aromatase deficiency

Congenital estrogen deficiency

Congenital factor II deficiency

Dysprothrombinemia · Hypoprothrombinemia

Congenital factor VII deficiency

Congenital proconvertin deficiency · Hypoproconvertinemia

Congenital factor XII deficiency

Congenital Hageman factor deficiency

Congenital factor XIII deficiency

Fibrin-stabilizing factor deficiency

Congenital isolated ACTH deficiency

Congenital lactase deficiency

Congenital plasminogen activator inhibitor type 1 deficiency

Congenital PAI-1 deficiency

Congenital sucrase-isomaltase deficiency

CSID · Congenital sucrose intolerance

Congenital vertebral-cardiac-renal anomalies syndrome

Congenital NAD deficiency disorder

Hemophilia A

Congenital Factor VIII deficiency · Congenital F8 deficiency

Hemophilia B

Congenital F9 deficiency · Christmas disease

Isolated complex I deficiency

Isolated NADH-coenzyme Q reductase deficiency · Isolated NADH-ubiquinone reductase deficiency

Isolated complex III deficiency

Isolated CoQ-cytochrome C reductase deficiency · Isolated coenzyme Q-cytochrome C reductase deficiency

Isolated congenital hypogonadotropic hypogonadism

Isolated congenital gonadotropin deficiency · Gonadotropic deficiency

Isolated cytochrome C oxidase deficiency

Isolated COX deficiency · Isolated mitochondrial respiratory chain complex IV deficiency

Isolated femoral agenesis/hypoplasia

Isolated congenital femoral deficiency · Isolated congenital short femur

Isolated fibular hemimelia

Isolated congenital longitudinal deficiency of the fibula · Isolated fibular longitudinal meromelia

Isolated follicle stimulating hormone deficiency

Isolated FSH deficiency

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 IV

Isolated humeral agenesis/hypoplasia

Isolated humeral intercalary meromelia · Isolated congenital absence of humerus

Isolated proximal femoral focal deficiency

PFFD · CPFD

Isolated radial hemimelia

Isolated radial ray agenesis · Isolated radial longitidinal meromelia

Isolated thyroid-stimulating hormone deficiency

Isolated thyrotropin deficiency · Isolated TSH deficiency

Isolated thyrotropin-releasing hormone deficiency

Isolated TRF deficiency · Isolated TRH deficiency

Isolated tibial hemimelia

Isolated congenital absence of tibia · Isolated congenital aplasia and dysplasia of the tibia with intact fibula

Isolated ulnar hemimelia

Isolated ulnar deficiency of forearm · Isolated ulnar longitudinal meromelia

Laron syndrome

Complete growth hormone insensitivity · GH receptor deficiency

MAN1B1-CDG

Congenital disorder of glycosylation type 2 due to MAN1B1 deficiency · Congenital disorder of glycosylation type II due to MAN1B1 deficiency

Mild hemophilia A

Mild congenital factor VIII deficiency · Mild congenital F8 deficiency

Mild hemophilia B

Mild congenital factor IX deficiency · Mild congenital F9 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 deficiency

Congenital combined pituitary hormone deficiency · Congenital hypopituitarism

Non-acquired isolated growth hormone deficiency

Congenital IGHD · Congenital isolated GH deficiency

X-linked intellectual disability with isolated growth hormone deficiency

MRGH