Rare Disease Library

Isolated ulnar hemimelia

Isolated ulnar deficiency of forearm · Isolated ulnar longitudinal meromelia

Ataxia with vitamin E deficiency

AVED · Ataxia with isolated vitamin E deficiency

Congenital isolated ACTH deficiency

Isolated absence of both forearm and hand

Isolated congenital radio-ulnar terminal transverse meromelia

Isolated ATP synthase deficiency

Isolated mitochondrial respiratory chain complex V deficiency

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 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 glycerol kinase deficiency

Hyperglycerolemia

Isolated humeral agenesis/hypoplasia

Isolated humeral intercalary meromelia · Isolated congenital absence of humerus

Isolated proximal femoral focal deficiency

PFFD · CPFD

Isolated sedoheptulokinase deficiency

Isolated SHPK deficiency

Isolated sulfite oxidase deficiency

ISOD · Sulfocysteinuria

Isolated thyroid-stimulating hormone deficiency

Isolated thyrotropin deficiency · Isolated TSH deficiency

Isolated thyrotropin-releasing hormone deficiency

Isolated TRF deficiency · Isolated TRH deficiency

Late-onset isolated ACTH deficiency

Non-acquired isolated growth hormone deficiency

Congenital IGHD · Congenital isolated GH deficiency

Recurrent infections associated with rare immunoglobulin isotypes deficiency

IgG subclass deficiency with IgA subclass deficiency · Isolated IgG subclass deficiency