Rare Disease Library

Isolated tibial hemimelia

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

Aromatase deficiency

Congenital estrogen deficiency

Congenital factor II deficiency

Dysprothrombinemia · Hypoprothrombinemia

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 acheiria

Isolated congenital absence of hand

Isolated amelia of lower limb

Isolated congenital absence of lower limb

Isolated amelia of upper limb

Isolated congenital absence of upper limb

Isolated apodia

Isolated congenital absence of foot

Isolated complex I deficiency

Isolated NADH-coenzyme Q reductase deficiency · Isolated NADH-ubiquinone 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 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 hypoplasia of thumb

Isolated congenital thumb hypodactyly · Isolated congenital thumb oligodactyly

Isolated proximal femoral focal deficiency

PFFD · CPFD

Isolated pseudoarthrosis of the limbs

Isolated congenital pseudarthrosis of the limbs · Congenital pseudoarthrosis of the limbs

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 ulnar hemimelia

Isolated ulnar deficiency of forearm · Isolated ulnar longitudinal meromelia

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 isolated growth hormone deficiency

Congenital IGHD · Congenital isolated GH deficiency