Rare Disease Library

Isolated growth hormone deficiency type IA

Congenital IGHD type IA · Congenital isolated GH deficiency type IA

ALG12-CDG

CDG syndrome type Ig · CDG-Ig

Congenital amyoplasia

Amyoplasia congenita

Congenital dyserythropoietic anemia type I

CDA I · CDA type 1

Congenital dyserythropoietic anemia type II

CDA II · CDA type 2

Congenital dyserythropoietic anemia type III

CDA III · CDA type 3

Congenital dyserythropoietic anemia type IV

CDA IV · CDA due to KLF1 mutation

Congenital epulis

Congenital gingival cell tumor · Congenital granular cell tumor

Congenital long QT syndrome

Congenital LQTS

Congenital microcoria

Congenital miosis

Congenital muscular dystrophy type 1B

CMD1B · MDC1B

Congenital muscular dystrophy type 1C

CMD1C · MDC1C

Congenital muscular dystrophy type 1D

MDC1D

Congenital myopathy, Paradas type

Congenital myotonia

Congenital neutropenia

Constitutional neutropenia

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

Congenital tracheomalacia

Congenital major airway collapse

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 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

Kostmann syndrome

Infantile agranulocytosis · Severe congenital neutropenia type 3

Laminin subunit alpha 2-related congenital muscular dystrophy

CMD1A · Congenital muscular dystrophy due to laminin alpha2 deficiency

MGAT2-CDG

CDG syndrome type IIa · CDG-IIa

Myosclerosis

Congenital myosclerosis, Löwenthal type

Non-acquired isolated growth hormone deficiency

Congenital IGHD · Congenital isolated GH deficiency

PMM2-CDG

CDG syndrome type Ia · CDG-Ia

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