Rare Disease Library

Erythrokeratoderma variabilis progressiva

Erythrokeratodermia variabilis

EKV · Erythrokeratodermia variabilis, Mendes da Costa type

Foodborne botulism

Intoxication botulism

Hemoglobin Bart's fetalis syndrome

Alpha-thalassemia hydrops fetalis · Alpha-thalassemia major

Hydrops fetalis

Fetal anasarca · Fetal hydrops

Hyperostosis corticalis generalisata

Van Buchem disease · Hyperphosphatasemia tarda

Hyperostosis cranialis interna

Iatrogenic botulism

Inadvertent botulism

Immune hydrops fetalis

IHF · Immune HF

Infant botulism

Infant intestinal botulism · Infant intestinal toxemia botulism

Inhalational botulism

Inhalation botulism

Intestinal botulism

Intestinal colonization botulism · Intestinal toxemia botulism

Isolated lissencephaly type 1 without known genetic defects

Lelis syndrome

Ectodermal dysplasia-acanthosis nigricans syndrome

Lethal short-limb dwarfism, McAlister-Crane type

McAlister-Crane syndrome

Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome

Berlin syndrome · Ectodermal dysplasia, Berlin type

Leukonychia totalis

Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome

Mesothelioma of the tunica vaginalis

Malignant mesothelioma of the tunica vaginalis

Microlissencephaly

Microlissencephaly-micromelia syndrome

Basel-Vanagaite-Sirota syndrome

Non-immune hydrops fetalis

Non-immune HF · Non-immune fetal edema

OBSOLETE: Centripetalis recessive dystrophic epidermolysis bullosa

OBSOLETE: Centripetal dystrophic epidermolysis bullosa · OBSOLETE: Centripetal recessive dystrophic epidermolysis bullosa

OBSOLETE: Cobblestone lissencephaly type A

OBSOLETE: Lissencephaly type 2A

OBSOLETE: Cobblestone lissencephaly type B

OBSOLETE: Lissencephaly type 2B

OBSOLETE: Cobblestone lissencephaly type C

OBSOLETE: Lissencephaly type 2C

OBSOLETE: Epidermolysis bullosa simplex superficialis

OBSOLETE: EBSS

OBSOLETE: Idiopathic hydrops fetalis

OBSOLETE: Lissencephaly-demyelinating axonal neuropathy syndrome

OBSOLETE: Microlissencephaly type B

OBSOLETE: Polymicrogyria-turricephaly-hypogenitalism syndrome

OBSOLETE: Vestibular torticollis

Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome

Levic-Stefanovic-Nikolic syndrome

Other syndrome with lissencephaly as a major feature

Pallister-Hall syndrome

Hypothalamic hamartoblastoma syndrome

Pallister-Killian syndrome

Isochromosome 12p mosaicism · Isochromosome 12p syndrome

PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis

PIEZO1-related LRHF/GLD · PIEZO1-related generalized lymphatic dysplasia with systemic involvement

Proboscis lateralis

Congenital tubular nose

Prominent glabella-microcephaly-hypogenitalism syndrome

MacDermot-Winter syndrome

Pyruvate metabolism disorder

Rare genetic parathyroid disease and phosphocalcic metabolism disorder

Rare inborn errors of metabolism

Rare metabolic disease

Rare parathyroid disease and phosphocalcic metabolism anomaly

Short stature-delayed bone age due to thyroid hormone metabolism deficiency

Situs inversus totalis

Complete situs inversus · Complete situs inversus viscerum

Sterol metabolism disorder

Sterol metabolism disorder with epilepsy

Torticollis-keloids-cryptorchidism-renal dysplasia syndrome