Rare Disease Library

ALECT2 amyloidosis

Leukocyte chemotactic factor-2 amyloidosis

Alexander disease

AxD

Alexander disease type I

AxD type I

Alexander disease type II

AxD type II

Autoimmune limbic encephalitis

ALE

Carnevale syndrome

3MC2 syndrome · Carnevale-Krajewska-Fischetto syndrome

Central precocious puberty in male

Central precocious puberty in boy · CPP in male

Cystic leukoencephalopathy without megalencephaly

CLWM

Eales disease

Idiopathic retinal perivasculitis · Idiopathic retinal vasculitis

Familial peripheral male-limited precocious puberty

FMPP · Familial gonadotropin-independent male-limited sexual precocity

Familial pseudohyperkalemia

Familial pseudohyperkalemia type 1

Female adnexal tumor of probable Wolffian origin

FATWO

Female infertility due to an implantation defect of genetic origin

Female infertility due to oocyte meiotic arrest

Female infertility due to zona pellucida defect

Female restricted epilepsy with intellectual disability

Juberg-Hellman syndrome · EFMR

Genetic central precocious puberty in female

Genetic central precocious puberty in girl · Genetic CPP in female

Genetic central precocious puberty in male

Genetic central precocious puberty in boy · Genetic CPP in male

Genetic precocious puberty in female

Granuloma faciale

Facial granuloma of Lever · Granuloma of Lever

Hemimegalencephaly

Unilateral megalencephaly

Hyperkalemic periodic paralysis

Adynamia episodica hereditaria · Familial hyperPP

Hypokalemic periodic paralysis

Westphall disease

Ichthyosis-male hypogonadism syndrome

Isolated female hypospadias

Isolated megalencephaly

Isovaleric acidemia

Isovaleric acid CoA dehydrogenase deficiency

Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome

Sohval-Soffer syndrome

Male infertility due to acephalic spermatozoa

Acephalic spermatozoa syndrome

Male infertility due to globozoospermia

Round-headed sperm syndrome · Male infertility due to round-headed spermatozoa

Male infertility due to gonadal dysgenesis or sperm disorder

Male infertility due to testicular dysgenesis or sperm disorder

Male infertility due to large-headed multiflagellar polyploid spermatozoa

Male infertility due to macrozoospermia · Macrocephalic sperm head syndrome

Male infertility due to NANOS1 mutation

Male infertility due to obstructive azoospermia of genetic origin

Male infertility due to impaired sperm transport of genetic origin

Male infertility due to sperm disorder

Male infertility due to sperm motility disorder

Male infertility due to asthenozoospermia

Male infertility with azoospermia or oligozoospermia due to single gene mutation

Male infertility with normal virilization due to meiosis defect

Azoospermia due to maturation arrest · Azoospermia due to meiosis defect

Male infertility with spermatogenesis disorder

Male infertility with spermatogenesis disorder due to single gene mutation

Male infertility with teratozoospermia due to single gene mutation

Megalencephalic leukoencephalopathy with subcortical cysts

MLC · Megalencephalic leukodystrophy

Megalencephaly-capillary malformation-polymicrogyria syndrome

MCAP · MCM

Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome

MPPH syndrome

Megalencephaly-severe kyphoscoliosis-overgrowth syndrome

Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA

Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mtDNA · OXPHOS disease due to a large-scale single deletion of mitochondrial DNA

Non-genetic central precocious puberty in male

Non-genetic central precocious puberty in boy · Non-genetic CPP in male