Rare Disease Library

Isolated complex I deficiency

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

46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency

17-beta-hydroxysteroid dehydrogenase 3 deficiency · 17-ketoreductase deficiency

46,XY difference of sex development due to 5-alpha-reductase 2 deficiency

46,XY DSD due to 5-alpha-reductase 2 deficiency · Pseudovaginal perineoscrotal hypospadias

Ataxia with vitamin E deficiency

AVED · Ataxia with isolated vitamin E deficiency

Congenital isolated ACTH deficiency

Constitutional megaloblastic anemia with severe neurologic disease

DHFR deficiency · Dihydrofolate reductase deficiency

Dihydropteridine reductase deficiency

Hyperphenylalaninemia due to dihydropteridine reductase deficiency · PKU type 2

Dopa-responsive dystonia due to sepiapterin reductase deficiency

Autosomal recessive sepiapterin reductase-deficient DRD · DRD due to SRD

Fatty acyl-CoA reductase 1 deficiency

PFCRD · FAR1 deficiency

Homocystinuria due to methylene tetrahydrofolate reductase deficiency

MTHFR deficiency · Methylene tetrahydrofolate reductase deficiency

Isolated ATP synthase deficiency

Isolated mitochondrial respiratory chain complex V 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 glycerol kinase deficiency

Hyperglycerolemia

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 sedoheptulokinase deficiency

Isolated SHPK deficiency

Isolated succinate-CoQ reductase deficiency

Isolated mitochondrial respiratory chain complex II deficiency · Isolated succinate-coenzyme Q reductase 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

Isolated ulnar hemimelia

Isolated ulnar deficiency of forearm · Isolated ulnar longitudinal meromelia

Late-onset isolated ACTH deficiency

Non-acquired isolated growth hormone deficiency

Congenital IGHD · Congenital isolated GH deficiency

OBSOLETE: Recessive hereditary methemoglobinemia type 1

OBSOLETE: NADH-cytochrome b5reductase deficiency type 1 · OBSOLETE: Recessive congenital methemoglobinemia type 1

OBSOLETE: Recessive hereditary methemoglobinemia type 2

OBSOLETE: NADH-cytochrome b5reductase deficiency type 2 · OBSOLETE: Recessive congenital methemoglobinemia type 2

Progressive encephalopathy with leukodystrophy due to DECR deficiency

2,4-dienoyl-CoA reductase deficiency · DECR deficiency with hyperlysinemia

PYCR1-related De Barsy syndrome

PYCR1 deficiency · Pyrroline-5-carboxylate reductase 1 deficiency

Recurrent infections associated with rare immunoglobulin isotypes deficiency

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

Smith-Lemli-Opitz syndrome

7-dehydrocholesterol reductase deficiency · RSH syndrome