Rare Disease Library

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 adermatoglyphia

Congenital absence of fingerprints · Immigration delay disease

Isolated congenital aglossia

Isolated congenital alacrima

Isolated congenital anonychia

Isolated anonychia

Isolated congenital anosmia

Isolated congenital breast hypoplasia/aplasia

Isolated congenital amastia

Isolated congenital ectropion

Isolated congenital entropion

Isolated congenital femoral bifurcation

Isolated congenital distal femoral duplication

Isolated congenital hepatic fibrosis

Isolated CHF

Isolated congenital hypoglossia

Isolated congenital hypoglossia/aglossia

Isolated congenital hypogonadotropic hypogonadism

Isolated congenital gonadotropin deficiency · Gonadotropic deficiency

Isolated congenital laryngeal web

Isolated congenital megalocornea

Congenital anterior megalophthalmia

Isolated congenital microcephaly

Isolated congenital onychodysplasia

COIF · COIF syndrome

Isolated congenital radial head dislocation

Isolated congenital elbow dislocation

Isolated congenital sclerocornea

Isolated congenital syngnathia

Isolated congenital maxillomandibular fusion

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 IV

Isolated humeral agenesis/hypoplasia

Isolated humeral intercalary meromelia · Isolated congenital absence of humerus

Isolated humero-radial synostosis

Isolated congenital humeroradial fusion

Isolated humero-ulnar synostosis

Isolated congenital humeroulnar fusion

Isolated hyperphalangy

Supernumerary phalanx · Isolated congenital supernumerary phalanges

Isolated hypoplasia of thumb

Isolated congenital thumb hypodactyly · Isolated congenital thumb oligodactyly

Isolated nail clubbing

Isolated congenital acropachy · Isolated congenital digital clubbing

Isolated proximal femoral focal deficiency

PFFD · CPFD

Isolated pyloric duplication

Isolated duplication cyst of the pyloric canal · Isolated duplication cyst of the pylorus

Isolated radial hemimelia

Isolated radial ray agenesis · Isolated radial longitidinal meromelia

Isolated radio-ulnar synostosis

Isolated congenital radioulnar fusion

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 tibial hemimelia

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

Isolated tibio-fibular synostosis

Isolated congenital tibiofibular fusion

Isolated ulnar hemimelia

Isolated ulnar deficiency of forearm · Isolated ulnar longitudinal meromelia

Late-onset isolated ACTH deficiency

Mild hemophilia A

Mild congenital factor VIII deficiency · Mild congenital F8 deficiency