Disease Index
9,486 diseasessyndrome with 46,XY disorder of sex development
human disease
syndrome with a central nervous system malformation as major feature
human disease
syndrome with a cerebellar malformation as major feature
human disease
syndrome with a Dandy-Walker malformation as major feature
human disease
syndrome with a symptomatic strabismus
human disease
syndrome with brachydactyly
Brachydactyly ('short digits') is a general term that refers to disproportionately short fingers and toes, and forms part of the group of limb malformations characterized by bone dysostosis
syndrome with combined immunodeficiency
human disease
syndrome with corpus callosum agenesis /dysgenesis as a major feature
human disease
syndrome with disorder of sex development of gynecological interest
human disease
syndrome with hypoparathyroidism
human disease
syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy
human disease
syndrome with limb malformations as a major feature
human disease
syndrome with limb reduction defects
human disease
syndrome with microcephaly as major feature
human disease
syndrome with pulmonary hypertension as a major feature
human disease
syndrome with synostosis or other joint formation defect
human disease
syndrome with woolly hair
human disease
syndromic agammaglobulinemia
agammaglobulinemia that is part of a larger syndrome
syndromic aniridia
aniridia that is part of a larger syndrome
syndromic ankyloblepharon
human disease
syndromic anorectal malformation
anorectal malformation that is part of a larger syndrome
syndromic breast hypoplasia/aplasia
human disease
syndromic cataract
cataract (disease) that is part of a larger syndrome
syndromic constitutional thrombocytopenia
human disease
syndromic corneal dystrophy
corneal dystrophy (disease) that is part of a larger syndrome
syndromic craniosynostosis
craniosynostosis that is part of a larger syndrome
syndromic developmental defect of the eye
developmental defect of the eye that is part of a larger syndrome
syndromic diaphragmatic or abdominal wall malformation
diaphragmatic or abdominal wall malformation that is part of a larger syndrome
syndromic diaphragmatic or thoracic malformation
human disease
syndromic dyslipidemia
human disease