Rare Disease Library

CEDNIK syndrome

Cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome

Cranioectodermal dysplasia

CED · Sensenbrenner syndrome

Autoimmune lymphoproliferative syndrome-recurrent viral infections due to CASP8 deficiency

CEDS · Caspase 8 deficiency syndrome

Classical Ehlers-Danlos syndrome

Classical EDS · cEDS

46,XX difference of sex development induced by androgens excess

46,XX DSD induced by androgens excess · 46,XX disorder of sex development induced by androgens excess

46,XX difference of sex development induced by endogenous maternal-derived androgen

46,XX DSD induced by endogenous maternal-derived androgen · 46,XX disorder of sex development induced by endogenous maternal-derived androgen

46,XX difference of sex development induced by exogenous maternal-derived androgen

46,XX DSD induced by exogenous maternal-derived androgen · 46,XX disorder of sex development induced by exogenous maternal-derived androgen

46,XX difference of sex development induced by fetal androgens excess

46,XX DSD induced by fetal androgens excess · 46,XX disorder of sex development induced by fetal androgens excess

46,XX difference of sex development induced by fetoplacental androgens excess

46,XX DSD induced by fetoplacental androgens excess · 46,XX disorder of sex development induced by fetoplacental androgens excess

46,XX difference of sex development induced by maternal-derived androgen

46,XX disorder of sex development induced by maternal-derived androgen · 46,XX DSD induced by maternal-derived androgen

46,XY difference of sex development induced by maternal exposure to endocrine disruptors

46,XY DSD induced by maternal-exposure to endocrine disruptors · 46,XY disorder of sex development induced by maternal exposure to endocrine disruptors

Acute encephalopathy with biphasic seizures and late reduced diffusion

AESD · AIEF

Autoimmune heparin-induced thrombocytopenia

Autoimmune HIT · aHIT

Classic heparin-induced thrombocytopenia

Classic heparin-associated thrombocytopenia · Classic HAT

Cold-induced sweating syndrome

CISS

Cold-induced sweating syndrome-hyperthermia spectrum

Congenital myopathy with reduced type 2 muscle fibers

Congenital myopathy with type 2 muscle fiber atrophy · Congenital myopathy with fast-twitch fiber atrophy

Cyanide-induced parkinsonism-dystonia

Drug- or toxin-induced pulmonary arterial hypertension

Drug- or toxin-induced PAH · PAH

Drug-induced autoimmune hemolytic anemia

Drug-induced AIHA

Drug-induced localized lipodystrophy

Lipoatrophy caused by injected drug

Drug-induced lupus erythematosus

DILE

Drug-induced vasculitis

EBV-induced lymphoproliferative disease due to CARMIL2 deficiency

EBV-induced lymphoproliferative disease due to capping protein regulator and myosin 1 linker 2 deficiency

EBV-induced lymphoproliferative disease due to CD137 deficiency

Epstein-Barr virus-induced lymphoproliferative disease due to Cell differentiation 137 protein deficiency

EBV-induced lymphoproliferative disease due to CD70 deficiency

Epstein-Barr virus-induced lymphoproliferative disease due to CD70 molecule deficiency

EBV-induced lymphoproliferative disease due to PRKCD deficiency

EBV-induced lymphoproliferative disease due to protein kinase C delta deficiency

EBV-induced lymphoproliferative disease due to RASGRP1 deficiency

Epstein-Barr virus-induced lymphoproliferative disease due to Ras guanyl nucleotide-releasing protein 1 deficiency

EBV-induced lymphoproliferative disease due to TET2 deficiency

Epstein-Barr virus-induced lymphoproliferative disease due to tet methylcytosine dioxygenase 2 deficiency

Epilepsy with reading-induced seizures

EwRIS

Exercise-induced hyperinsulinism

EIHI · Exercise-induced hyperinsulinemic hypoglycemia

Exercise-induced malignant hyperthermia

Exertional heat stroke

Familial advanced sleep-phase syndrome

FASPS

Hereditary cryohydrocytosis with reduced stomatin

CHC type 2 · Hereditary cryohydrocytosis type 2

Immunotherapy induced hypophysitis

Ketamine-induced biliary dilatation

KLHL7-related Bohring-Opitz-like and Crisponi/Cold-induced sweating-like overlap syndrome

PERCHING syndrome

KLHL7-related Crisponi/cold-induced sweating-like syndrome

KLHL7-related Crisponi-like syndrome

Marfanoid habitus-inguinal hernia-advanced bone age syndrome

Maternal hyperthermia-induced birth defects

Micturition-induced epilepsy

OBSOLETE: Generalized epilepsy and praxis-induced seizures

OBSOLETE: Radiation-induced hypopituitarism

Orgasm-induced epilepsy

Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome

Palatal anomalies-multiple diastemata-facial dysmorphism-developmental delay syndrome

Panniculitis-induced localized lipodystrophy

Paroxysmal exertion-induced dyskinesia

DYT18 · Dystonia 18

Pressure-induced localized lipoatrophy

Semicircular lipoatrophy · Lipoatrophia semicircularis