Rare Disease Library

Non-syndromic male infertility due to sperm motility disorder

Non-syndromic male infertility due asthenozoospermia

Non-syndromic urogenital tract malformation of female

Non-syndromic urogenital tract malformation of male

Non-syndromic urogenital tract malformation of male and female

Normokalemic periodic paralysis

NormoKPP · NormoPP

OBSOLETE: Aleukemic mast cell leukemia

OBSOLETE: Familial pseudohyperkalemia type 2

OBSOLETE: Familial pseudohyperkalemia, Cardiff type

OBSOLETE: Isolated megalencephaly

OBSOLETE: Isolated macrencephaly

OBSOLETE: Symptomatic form of fragile X syndrome in female carriers

Pelizaeus-Merzbacher disease in female carriers

Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome

PMSE syndrome

Primary central precocious puberty in male

Primary central precocious puberty in boy · Primary CPP in boy

Primordial short stature-microdontia-opalescent and rootless teeth syndrome

Rare central precocious puberty in female

Rare central precocious puberty in girl · Rare CPP in female

Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism

Rare female infertility

Rare female infertility due to a congenital hypogonadotropic hypogonadism

Rare female infertility due to adrenal disorder of genetic origin

Rare female infertility due to an adrenal disorder

Rare female infertility due to an anomaly of ovarian function

Rare female infertility due to an anomaly of ovarian function of genetic origin

Rare female infertility due to an implantation defect

Rare female infertility due to gonadal dysgenesis

Rare female infertility due to ovarian dysgenesis

Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder

Rare female infertility due to gonadotropic axis disorder · Rare female infertility due to hypothalamic-pituitary-ovarian axis disorder

Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin

Rare female infertility due to gonadotropic axis disorder of genetic origin · Rare female infertility due to hypothalamic-pituitary-testicular axis disorder of genetic origin

Rare female infertility due to oocyte maturation defect

Rare genetic female infertility

Rare genetic male infertility

Rare male infertility

Rare male infertility due to adrenal disorder

Rare male infertility due to adrenal disorder of genetic origin

Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder

Rare male infertility due to gonadotropic axis disorder · Rare male infertility due to hypothalamic-pituitary-testicular axis disorder

Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin

Rare male infertility due to gonadotropic axis disorder of genetic origin · Rare male infertility due to hypothalamic-pituitary-testicular axis disorder of genetic origin

Rare male infertility due to testicular endocrine disorder

Rare peripheral precocious puberty in female

Rare precocious puberty in female

Secondary central precocious puberty in female

Secondary central precocious puberty in girl · Secondary CPP in girl

Secondary central precocious puberty in male

Secondary central precocious puberty in boy · Secondary CPP in male

Symptomatic form of Coffin-Lowry syndrome in female carriers

Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers

Symptomatic form of X-linked centronuclear myopathy in female carriers

Symptomatic form of X-linked myotubular myopathy in female carriers · Symptomatic form of XLMTM in female carriers

Vein of Galen malformation

Vein of Galen arteriovenous malformations · VOGM

X chromosome number anomaly with female phenotype syndrome

X chromosome number anomaly with male phenotype syndrome

X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability

X-linked facial dysmorphism-short stature-choanal atresia-intellectual disability syndrome limited to females

X-linked intellectual disability, Vitale type