Rare Disease Library

Ichthyosis-prematurity syndrome

Congenital ichthyosis type 4 · IPS

Autosomal dominant epidermolytic ichthyosis

BCIE · Bullous congenital ichthyosiform erythroderma

Autosomal recessive congenital ichthyosis

ARCI

Congenital bile acid synthesis defect type 4

2-methylacyl-CoA racemase deficiency · AMACR deficiency

Congenital generalized hypertrichosis, Ambras type

Ambras syndrome

Congenital ichthyosiform erythroderma

CIE · Erythrodermic ichthyosis

Congenital ichthyosis-microcephalus-tetraplegia syndrome

Congenital ichthyosis-microcephalus-quadriplegia syndrome

Congenital megacalycosis

Congenital microcoria

Congenital miosis

Congenital myopathy, Paradas type

Congenital ptosis

Congenital reticular ichthyosiform erythroderma

CRIE · IWC

Congenital sialidosis type 2

Congenital stenosis of the inferior vena cava

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

Congenital thrombotic thrombocytopenic purpura

Congenital ADAMTS-13 deficiency · Congenital TTP

Congenital toxoplasmosis

Toxoplasma embryofetopathy · Toxoplasma embryopathy

Congenital tracheal stenosis

Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form

Glycogen storage disease type IV, congenital neuromuscular form · Glycogenosis type IV, congenital neuromuscular form

Harlequin ichthyosis

HI · Ichthyosis congenita, Harlequin type

IBIDS syndrome

Tay syndrome · Trichothiodystrophy type E

Ichthyosis

Ichthyosis hystrix gravior

Ichthyosis, Lambert type

Ichthyosis-hypotrichosis syndrome

Hypotrichosis-congenital ichthyosis syndrome · IFAH syndrome

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

KID syndrome

KID/HID syndrome · Keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome

Myosclerosis

Congenital myosclerosis, Löwenthal type

Non-acquired isolated growth hormone deficiency

Congenital IGHD · Congenital isolated GH deficiency

OBSOLETE: Congenital cataract-ichthyosis syndrome

OBSOLETE: Congenital ichthyosis with trichothiodystrophy

Self-improving collodion baby

Self-healing collodion baby · SHCB

Severe congenital neutropenia due to G6PC3 deficiency

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