Rare Disease Library

Tritanopia

Blue colour blindness · Congenital tritanopia

Anonychia congenita totalis

Congenital abducens nerve palsy

Benign congenital sixth cranial nerve palsy · Congenital CNVI palsy

Congenital achiasma

Congenital alacrima

Congenital amyoplasia

Amyoplasia congenita

Congenital analbuminemia

Congenital cystic eye

Congenital anophthalmos with cyst

Congenital ectropion

Congenital epulis

Congenital gingival cell tumor · Congenital granular cell tumor

Congenital glaucoma

Buphthalmia · Buphthalmos

Congenital long QT syndrome

Congenital LQTS

Congenital macroglossia

Congenital microcoria

Congenital miosis

Congenital microgastria

Congenital myopathy

Congenital myotonia

Congenital neutropenia

Constitutional neutropenia

Congenital ptosis

Congenital pulmonary vein atresia

Congenital PVA · CPVA

Congenital short QT syndrome

Congenital SQTS

Congenital stationary night blindness

Congenital essential nyctalopia

Congenital syphilis

Mother-to-child transmission of syphilis · MTCT of syphilis

Congenital temporomandibular joint ankylosis

Congenital trismus

Congenital thrombotic thrombocytopenic purpura

Congenital ADAMTS-13 deficiency · Congenital TTP

Congenital toxoplasmosis

Toxoplasma embryofetopathy · Toxoplasma embryopathy

Congenital tracheal stenosis

Congenital tracheomalacia

Congenital major airway collapse

Congenital tricuspid stenosis

Congenital trigeminal anesthesia

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

Hereditary pulmonary alveolar proteinosis

Congenital PAP · Congenital pulmonary alveolar proteinosis

Isolated congenital anosmia

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

Non-acquired isolated growth hormone deficiency

Congenital IGHD · Congenital isolated GH deficiency

Primary syringomyelia

Congenital syringomyelia

Proboscis lateralis

Congenital tubular nose