Rare Disease Library

Excess breast volume or number

Exercise intolerance with lactic acidosis

Exercise-induced hyperinsulinism

EIHI · Exercise-induced hyperinsulinemic hypoglycemia

Exfoliative ichthyosis

Autosomal recessive exfoliative ichthyosis · Ichthyosis exfoliativa

EXOC6B-related spondyloepimetaphyseal dysplasia with joint laxity

EXOC6B-SEMD-JL · SEMD-JL3

Exostoses-anetodermia-brachydactyly type E syndrome

Exposure-related interstitial lung disease

Exstrophy-epispadias complex

BEEC · Bladder exstrophy-epispadias-cloacal extrophy complex

Extensor tendons of finger anomalies

Hapnes-Boman-Skeie syndrome

External auditory canal aplasia/hypoplasia

External auditory canal stenosis/atresia

External auditory canal atresia-vertical talus-hypertelorism syndrome

Rasmussen-Johnsen-Thomsen syndrome

Extracranial carotid artery aneurysm

ECAA · ECCA

Extracutaneous mastocytoma

Extragonadal germinoma

Extragonadal non-dysgerminomatous germ cell tumor

Extragonadal teratoma

Extralobar congenital pulmonary sequestration

Congenital extrapulmonary sequestration · Extralobar congenital bronchopulmonary sequestration

Extramammary Paget disease

Extramedullary conus spinal cord lipoma

Extramedullary soft tissue plasmacytoma

Extraneural perineurioma

Soft tissue perineurioma

Extranodal nasal NK/T cell lymphoma

Angiocentric T-cell lymphoma · Lethal midline granuloma

Extrapelvic endometriosis

Endometriosis outside pelvis

Extraskeletal Ewing sarcoma

EOE · Extraosseous Ewing sarcoma

Extraskeletal myxoid chondrosarcoma

Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome

Char-Douglas-Dungan syndrome

Extraventricular neurocytoma

EVN

Eye defects-arachnodactyly-cardiopathy syndrome

Al Gazali-Al Talabani syndrome · Al Gazali-Lytle syndrome

Eyebrow duplication-syndactyly syndrome

Eyelid border anomaly

Eyelid sebaceous carcinoma

F12-associated cold autoinflammatory syndrome

FACAS

F12-related hereditary angioedema with normal C1Inh

F12-related HAE with normal C1 inhibitor · HAE

Facial cleft

Craniofacial cleft

Facial dermoid cyst

Dermoid cyst of the face

Facial diplegia with paresthesias

Facial diplegia with paresthesias variant of Guillain-Barré syndrome · Facial diplegia with paresthesias variant of GBS

Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome

Friedman-Goodman syndrome · FACES syndrome

Facial dysmorphism-corpus callosum hypoplasia-infantile epileptic encephalopathy

WWOX-related epileptic encephalopathy

Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion

Desanto-Shinawi syndrome due to 10p11.21p12.31 microdeletion · 10p12p11 microdeletion syndrome

Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation

Desanto-Shinawi syndrome due to WAC point mutation

Facial dysmorphism-global developmental delay-hypotonia-polymicrogyria syndrome

RAC3-related syndrome

Facial dysmorphism-hypertrichosis-epilepsy-intellectual disability/developmental delay-gingival overgrowth syndrome

FHEIG syndrome

Facial dysmorphism-immunodeficiency-livedo-short stature syndrome

FILS syndrome

Facial dysmorphism-Intellectual disability-rhombencephalosynapsis syndrome

MN1 C-terminal truncation syndrome · MCTT

Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome

FDLAB syndrome · Facial dysmorphism-lens dislocation-anterior segment abnormalities-nontraumatic conjunctive cysts syndrome

Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome

Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome

Hamamy syndrome

Facial dysmorphism-shawl scrotum-joint laxity syndrome

Seaver-Cassidy syndrome