Rare Disease Library

Primary hemophagocytic lymphohistiocytosis

Genetic hemophagocytic lymphohistiocytosis · Genetic HLH

Primary hemophagocytic lymphohistiocytosis with hypopigmentation

Genetic hemophagocytic lymphohistiocytosis with hypopigmentation · Genetic HLH with hypopigmentation

Primary hemophagocytic lymphohistiocytosis without hypopigmentation

Genetic hemophagocytic lymphohistiocytosis without hypopigmentation · Genetic HLH without hypopigmentation

Genetic 46,XX difference of sex development

Genetic 46,XX DSD · Genetic 46,XX disorder of sex development

Genetic 46,XY difference of sex development

Genetic 46,XY DSD · Genetic 46,XY disorder of sex development

Genetic alopecia

Genetic central precocious puberty

Genetic CPP

Genetic dementia

Genetic difference of sex development

Genetic DSD · Genetic disorder of sex development

Genetic eye tumor

Genetic hair anomaly

Genetic interstitial lung disease

Genetic ILD

Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability

Genetic MCA · Genetic multiple congenital anomalies without intellectual disability (with or without dysmorphism)

Genetic obesity

Genetic urticaria

Hereditary steroid-resistant nephrotic syndrome

Familial idiopathic steroid-resistant nephrotic syndrome · Hereditary SRNS

Rare genetic headache