Rare Disease Library

Tenosynovial giant cell tumor

TGCT · pigmented villonodular synovitis

Thymic epithelial neoplasm

TEN · Thymic epithelial tumor

Acral persistent papular mucinosis

Acute intermittent porphyria

Alpers-Huttenlocher syndrome

Alpers progressive sclerosing poliodystrophy · Alpers syndrome

Antenatal multiminicore disease with arthrogryposis multiplex congenita

Attenuated Chédiak-Higashi syndrome

Atypical Chédiak-Higashi syndrome

Attenuated familial adenomatous polyposis

AFAP · Attenuated FAP

Autosomal dominant progressive nephropathy with hypertension

Bicervical bicornuate uterus with patent cervix and vagina

Brachydactyly-arterial hypertension syndrome

Bilginturan brachydactyly · Bilginturan syndrome

Cerebrotendinous xanthomatosis

CTX · Sterol 27-hydroxylase deficiency

Chronic thromboembolic pulmonary hypertension

CTEPH

Chylomicron retention disease

Anderson disease · CMRD

COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendency

COL4A1 or COL4A2-related cerebral angiopathy with hemorrhagic tendency

COL4A1 or COL4A2-related cerebral small vessel disease with ischemic tendency

COL4A1 or COL4A2-related cerebral angiopathy with ischemic tendency

Congenital aortic valve stenosis

Congenital cervical spinal stenosis

Congenital narrowing of cervical spinal canal · Congenital stenosis of the cervical spine

Congenital esophageal stenosis

CES · Congenital oesophageal stenosis

Congenital mitral stenosis

Congenital mitral valve insufficiency and/or stenosis

Congenital patent ductus arteriosus aneurysm

Congenital pulmonary valvar stenosis

Congenital stenosis of pulmonary valve

Congenital pulmonary veins atresia or stenosis

Congenital renal artery stenosis

Congenital renovascular hypoplasia

Congenital stenosis of the inferior vena cava

Congenital stenosis of the IVC · Congenital stenosis of the inferior caval vein

Congenital subglottic stenosis

Congenital tracheal stenosis

Congenital tricuspid stenosis

Congenital velopharyngeal incompetence

Coronary ostial stenosis or atresia

COSA · Congenital stenosis or atresia of a coronary ostium

Coronary sinus stenosis

Craniostenosis with strabismus

Cryptogenic multifocal ulcerous stenosing enteritis

CMUSE

Diaphyseal medullary stenosis-bone malignancy syndrome

Bone dysplasia-medullary fibrosarcoma syndrome · Diaphyseal medullary stenosis-malignant fibrous histiocytoma syndrome

Digital extensor muscle aplasia-polyneuropathy

Hamanishi-Ueba-Tsuji syndrome · Congenital aplasia of the extensor muscles of the fingers and thumb associated with generalized polyneuropathy

Discrete fibromuscular subaortic stenosis

Discrete fixed membranous subaortic stenosis

Double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy

DORV with atrioventricular septal defect, pulmonary stenosis, heterotaxy

Double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis

DORV with subaortic or doubly committed VSD with pulmonary stenosis · DORV, Fallot type

Drug- or toxin-induced pulmonary arterial hypertension

Drug- or toxin-induced PAH · PAH

Early-onset cerebellar ataxia with retained tendon reflexes

EOCA · EOCARR

Early-onset familial noncirrhotic portal hypertension

Extensor tendons of finger anomalies

Hapnes-Boman-Skeie syndrome

Familial patent arterial duct

Fatal infantile encephalopathy-pulmonary hypertension syndrome

Fixed subaortic stenosis

Genetic primary orthostatic hypotension