Rare Disease Library

Congenital thrombotic thrombocytopenic purpura

Congenital ADAMTS-13 deficiency · Congenital TTP

Congenital toxoplasmosis

Toxoplasma embryofetopathy · Toxoplasma embryopathy

Congenital tracheal stenosis

Congenital tricuspid stenosis

Congenital trochlear nerve palsy

Congenital superior oblique palsy · Congenital CNIV palsy

Congenital vertical talus

Congenital convex foot · Congenital convex pes valgus

Diamond-Blackfan anemia

Diamond-Blackfan anemia syndrome · Congenital PRCA

Dyskeratosis congenita

DC · DKC

Familial progressive hyperpigmentation

Melanosis diffusa congenita · Melanosis universalis hereditaria

Fetal methylmercury syndrome

Prenatal methylmercury poisoning · Congenital Minamata disease

Hereditary pulmonary alveolar proteinosis

Congenital PAP · Congenital pulmonary alveolar proteinosis

Hirschsprung disease

Aganglionic megacolon · Congenital intestinal aganglionosis

Ichthyosis-prematurity syndrome

Congenital ichthyosis type 4 · IPS

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

Leber congenital amaurosis

Amaurosis congenita of Leber

Marie Unna hereditary hypotrichosis

Hypotrichosis, Marie Unna type · MUHH

Megaconial congenital muscular dystrophy

Congenital megaconial myopathy · Congenital muscular dystrophy with mitochondrial structural abnormalities

Microvillus inclusion disease

Congenital microvillous atrophy · Congenital microvillus atrophy

Mild hemophilia A

Mild congenital factor VIII deficiency · Mild congenital F8 deficiency

Mild hemophilia B

Mild congenital factor IX deficiency · Mild congenital F9 deficiency

Myosclerosis

Congenital myosclerosis, Löwenthal type

Non-acquired isolated growth hormone deficiency

Congenital IGHD · Congenital isolated GH deficiency

OBSOLETE: Congenital hydronephrosis

OBSOLETE: Congenital neuronal ceroid lipofuscinosis

OBSOLETE: Congenital NCL

Oley syndrome

Congenital hypotrichosis-milia syndrome

Partial pancreatic agenesis

Congenital pancreatic agenesis · Partial agenesis of the pancreas

Pierson syndrome

Microcoria-congenital nephrosis syndrome

Primary familial polycythemia

Congenital erythrocytosis due to erythropoietin receptor mutation · Congenital polycythemia due to erythropoietin receptor mutation

Primary pulmonary vein stenosis

PPVS · Congenital pulmonary vein stenosis

Proboscis lateralis

Congenital tubular nose

Self-improving collodion baby

Self-healing collodion baby · SHCB

Thomsen and Becker disease

Myotonia congenita

Tritanopia

Blue colour blindness · Congenital tritanopia

Unilateral congenital megacalycosis

Worster-Drought syndrome

Congenital suprabulbar paresis