Rare Disease Library

Emanuel syndrome

Der(22)t(11;22) syndrome · Supernumerary der(22) syndrome

Epilepsy with eyelid myoclonia

EMA · EMEA

Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome

EMARDD

Epilepsy with myoclonic-atonic seizures

Doose syndrome · EMAS

Acquired angioedema

AAE · Acquired C1 inhibitor deficiency

Acquired angioedema type 1

Acquired angioneurotic edema type 1

Acquired angioedema type 2

AAE 2 · AAE II

Acquired angioedema with C1Inh deficiency

Acquired angioneurotic edema with C1 inhibitor deficiency · Acquired angioneurotic edema with C1Inh deficiency

Acquired elastotic haemangioma

Acroosteolysis-keloid-like lesions-premature aging syndrome

Premature aging syndrome, Penttinen type

Acute generalized exanthematous pustulosis

AGEP · Pustular drug eruption

Adult-onset nemaline myopathy

Airway infantile hemangioma

Laryngotracheal angioma

Amish nemaline myopathy

Anastomosing haemangioma

Annular erythema of infancy

Apnea of prematurity

Atypical lichen myxedematosus

Intermediate lichen myxedematosus

Autosomal systemic lupus erythematosus

Autosomal SLE · Disseminated lupus erythematosus

Beckwith-Wiedemann syndrome

BWS · Exomphalos-macroglossia-gigantism syndrome

Beckwith-Wiedemann syndrome due to 11p15 microdeletion

Beckwith-Wiedemann syndrome due to 11p15 microduplication

Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion

Beckwith-Wiedemann syndrome due to CDKN1C mutation

Beckwith-Wiedemann syndrome due to imprinting defect of 11p15

Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11

Mosaic paternal uniparental disomy of chromosome 11 · UPD(11)pat

Bonnemann-Meinecke-Reich syndrome

Encephalopathy-intracerebral calcification-retinal degeneration syndrome

Carey-Fineman-Ziter syndrome

Myopathy-Moebius-Robin syndrome

Castleman disease

Angiofollicular ganglionic hyperplasia · Angiofollicular lymph hyperplasia

Cavernous hemangiomas of face-supraumbilical midline raphe syndrome

CELSR1-related late-onset primary lymphedema

Childhood-onset nemaline myopathy

Mild nemaline myopathy

Cholestasis-lymphedema syndrome

Aagenaes syndrome

Chronic cutaneous lupus erythematosus

Combined pulmonary fibrosis-emphysema syndrome

CPFE

Complications after hematopoietic stem cell transplantation

Complications after HSCT

Composite hemangioendothelioma

Polymorphous hemangioendothelioma

Congenital hemangioma

Congenital lobar emphysema

Congenital lobar hyperinflation · Infantile lobar hyperinflation

Congenital nemaline myopathy

Congenital primary lymphedema of Gordon

VEGFC-related congenital primary lymphedema

Congenital primary lymphedema without systemic or visceral involvement

Dandy-Walker malformation-facial hemangioma syndrome

DDX41-related hematologic malignancy predisposition syndrome

Deafness-lymphedema-leukemia syndrome

Hearing loss-lymphedema-leukemia syndrome · Emberger syndrome

Discoid lupus erythematosus

Discrete papular lichen myxedematosus

Disorder with multisystemic involvement and primary lymphedema