Rare Disease Library

Postorgasmic illness syndrome

POIS

Rare neurologic disease

Rare nervous system disease

Multiple sulfatase deficiency

MSD · Austin disease

Fibrodysplasia ossificans progressiva

FOP · Myositis ossificans progressiva

Multiple carboxylase deficiency

MCD

Rare headache

Galactosemia

Leigh syndrome

Infantile subacute necrotizing encephalopathy · Leigh disease

Ganglioneuroblastoma

Germ cell tumor

Extragonadal germ cell tumor

Infectious scleritis

Centronuclear myopathy

CNM

Rare infectious disease

Imprinting disorders

Canavan disease

ACY2 deficiency · Aminoacylase 2 deficiency

Glycogen storage disease due to glycogen debranching enzyme deficiency

GSDIII · Glycogen storage disease type 3

Turner syndrome

45,X syndrome · 45,X/46,XX syndrome

Epilepsy syndrome

Thomsen and Becker disease

Myotonia congenita

Rett syndrome

Von Hippel-Lindau disease

Familial cerebelloretinal angiomatosis · Lindau disease

Down syndrome

Trisomy 21

Sickle cell anemia

Homozygous hemoglobin S · Homozygous sickle cell anemia SS

Prader-Willi syndrome

Prader-Labhart-Willi syndrome

Mucopolysaccharidosis type 1

Alpha-L-iduronidase deficiency · MPS1

Wiskott-Aldrich syndrome

Eczema-thrombocytopenia-immunodeficiency syndrome · WAS

T-B+ severe combined immunodeficiency due to gamma chain deficiency

SCIDX1 · T-B+ SCID due to gamma chain deficiency

Ornithine transcarbamylase deficiency

OCT deficiency · OTC deficiency

Li-Fraumeni syndrome

Alpha-1-antitrypsin deficiency

Alpha1-antitrypsin deficiency · Alpha-1-proteinase inhibitor deficiency

Townes-Brocks syndrome

Sensorineural hearing loss with imperforate anus and hypoplastic thumbs · REAR syndrome

Schwartz-Jampel syndrome

Aberfeld syndrome · Burton skeletal dysplasia

WAGR syndrome

Del(11)(p13) · Deletion 11p13

Alagille syndrome

Alagille-Watson syndrome · Arteriohepatic dysplasia

Menkes disease

Menkes kinky hair disease · MD

Autosomal dominant cerebellar ataxia

ADCA · Autosomal dominant spinocerebellar ataxia

Severe combined immunodeficiency due to FOXN1 deficiency

Alymphoid cystic thymic dysgenesis · Nude/SCID

Primary peritoneal carcinoma

EOPPC · Extra-ovarian primary peritoneal carcinoma

Hypereosinophilic syndrome

HES

Neonatal adrenoleukodystrophy

NALD · Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder

Smith-Magenis syndrome

17p11.2 microdeletion syndrome

Rare pervasive developmental disorder

Rare autism spectrum disorder · Rare PDD

Argininemia

Arginase 1 deficiency · Arginase deficiency

Pyruvate dehydrogenase deficiency

PDH · PDHC

Dihydropteridine reductase deficiency

Hyperphenylalaninemia due to dihydropteridine reductase deficiency · PKU type 2

Fetal alcohol syndrome

ARBD · ARND

Neuroblastoma