Rare Disease Library

Isolated growth hormone deficiency type III

Congenital IGHD type III · Congenital isolated GH deficiency type III

ALG12-CDG

CDG syndrome type Ig · CDG-Ig

ALG2-CDG

CDG syndrome type Ii · CDG-Ii

COG5-CDG

CDG syndrome type IIi · CDG-IIi

Congenital dyserythropoietic anemia type II

CDA II · CDA type 2

Congenital dyserythropoietic anemia type III

CDA III · CDA type 3

Congenital epulis

Congenital gingival cell tumor · Congenital granular cell tumor

Congenital long QT syndrome

Congenital LQTS

Congenital microcoria

Congenital miosis

Congenital myopathy with reduced type 2 muscle fibers

Congenital myopathy with type 2 muscle fiber atrophy · Congenital myopathy with fast-twitch fiber atrophy

Congenital myopathy, Paradas type

Congenital oculomotor nerve palsy

Congenital CNIII lesion · Congenital third cranial nerve palsy

Congenital ptosis

Congenital pulmonary vein atresia

Congenital PVA · CPVA

Congenital short QT syndrome

Congenital SQTS

Congenital sialidosis type 2

Congenital temporomandibular joint ankylosis

Congenital trismus

Congenital thrombotic thrombocytopenic purpura

Congenital ADAMTS-13 deficiency · Congenital TTP

Diamond-Blackfan anemia

Diamond-Blackfan anemia syndrome · Congenital PRCA

Hereditary pulmonary alveolar proteinosis

Congenital PAP · Congenital pulmonary alveolar proteinosis

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

Kostmann syndrome

Infantile agranulocytosis · Severe congenital neutropenia type 3

Non-acquired isolated growth hormone deficiency

Congenital IGHD · Congenital isolated GH deficiency

Severe congenital neutropenia due to G6PC3 deficiency

SCN due to G6PC3 deficiency · Severe congenital neutropenia due to glucose-6-phosphatase catalytic subunit 3 deficiency

Tritanopia

Blue colour blindness · Congenital tritanopia