Rare Disease Library

Rare adult hypothyroidism

Rare disorder potentially indicated for bowel transplant

Rare disorder potentially indicated for heart transplant

Rare disorder potentially indicated for hematopoietic stem cell transplant

Rare disorder potentially indicated for kidney transplant

Rare disorder potentially indicated for liver transplant

Rare disorder potentially indicated for lung transplant

Rare disorder potentially indicated for transplant

Rare disorder potentially indicated for transplant or complication after transplantation

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 genetic hypothalamic or pituitary disease

Rare hypothalamic or pituitary disease

Rare hypothyroidism

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

Rocky Mountain spotted fever

Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome

Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion

5q31.3 microdeletion syndrome · Del(5)(q31.3)

Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome

SOFT syndrome

Short ulna-dysmorphism-hypotonia-intellectual disability syndrome

Spondylocarpotarsal synostosis

Synspondylism

Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome

Spontaneous intracranial hypotension

Spontaneous cerebrospinal fluid leak

Spontaneous periodic hypothermia

Episodic spontaneous hypothermia · Shapiro syndrome

Spotted fever rickettsiosis

Spotted fever rickettsiae disease

Syndromic hypothyroidism

TBCK-related encephalopathy-severe hypotonia-craniofacial dysmorphism syndrome

Transient congenital hypothyroidism

Transient congenital hypothyroidism due to maternal factor

Transient congenital hypothyroidism due to neonatal factor

Woolly hair-hypotrichosis-everted lower lip-outstanding ears syndrome

Salamon syndrome

X-linked central congenital hypothyroidism with late-onset testicular enlargement

IGSF1 deficiency syndrome · X-linked central congenital hypothyroidism with late-onset macroorchidism

X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome

X-linked intellectual disability-hypotonia-movement disorder syndrome

X-linked intellectual disability-hypotonic face syndrome