Disease Index

skin disease found in immunocompromised patients, caused by TSPyV

The association of amelogenesis imperfecta and a microscopically typical hair dysplasia has been found in several members of a family in two generations. Transmission is X-linked.

human disease

medical condition

human disease

human disease

autosomal dominant disease that is characterized by short stature, sparse hair, a bulbous nasal tip and cone-shaped epiphyses (the growing ends of bones), as well as severe generalized shortening of all finger and toe bones (brachydactyly)

Human disease

human disease

human disease

tricuspid valve disease characterized by a missing or abnormally developed tricuspid heart value at birth

human disease

Human disease

medical condition

headache disorder characterized by episodes of unilateral, short lasting pain and associated ipsilateral cranial autonomic symptoms

neuropathic disorder

Trigonocephaly-bifid nose-acral anomalies syndrome is characterized by trigonocephaly, brachycephaly, bulbous nose (bifid at the tip), micrognathia, macrostomia, hypotonia and relatively broad metatarsals and phalanges

rare metabolic disorder

Genetic metabolic disorder

congenital disorder

Triphalangeal thumb-polysyndactyly syndrome (TPT-PS) is a hand-foot malformation characterized by triphalangeal thumbs and pre- and postaxial polydactyly, isolated syndactyly or complex polysyndactyly

human disease

presence of 47XXX chromosomes rather than the typical 46XX

autosomal recessive congenital disorder featuring insufficiency of tears, adrenal insufficiency, and esophageal dysfunction

extremely rare chromosomal disorder occuring during human embryogenesis, causing severe abnormalities in fetal development and usually lethal in the prenatal stage

a genetic condition where the mouth cannot be opened completely (trismus) and the fingers bend when dorsiflexion of the wrist/hand is attempted (pseudocamptodactyly.

abnormal condition of three copies of a particular chromosome

Trisomy 10p is a syndrome of mental retardation/multiple congenital malformations (MR-MCA) that is caused by the total or partial duplication of the short arm of chromosome 10