Disease Index
9,486 diseasessyndromic respiratory or mediastinal malformation
respiratory or mediastinal malformation that is part of a larger syndrome
syndromic retinitis pigmentosa
retinitis pigmentosa that is part of a larger syndrome
syndromic sensorineural deafness due to combined oxidative phosphorylation defect
human disease
syndromic urogenital tract malformation
urogenital tract malformation that is part of a larger syndrome
syndromic uterovaginal malformation
uterovaginal malformation that is part of a larger syndrome
syndromic visceral malformation
human disease
syndromic X-linked intellectual disability 12
syndromic X-linked intellectual disability characterized by severe intellectual deficit, mutism, epilepsy, growth retardation or failure and recurrent infections that has material basis in variation in the chromosome region Xp11
MeSH: C564106
syndromic X-linked intellectual disability 14
Human disease
MeSH: C537724
syndromic X-linked intellectual disability 17
Human disease
syndromic X-linked intellectual disability 34
Human disease
syndromic X-linked intellectual disability 5
Human disease
MeSH: C535773
syndromic X-linked intellectual disability 7
syndromic X-linked intellectual disability characterized by intellectual deficit, obesity, hypogonadism, and tapering fingers that has material basis in variation in the chromosome region Xp11.3-q22
MeSH: C537449
syndromic X-linked intellectual disability 94
Human disease
MeSH: C567479
syndromic X-linked intellectual disability Abidi type
Human disease
MeSH: C535556
syndromic X-linked intellectual disability Cabezas type
Human disease
syndromic X-linked intellectual disability Claes-Jensen type
Human disease
MeSH: C564494
syndromic X-linked intellectual disability Hedera type
syndromic X-linked intellectual disability characterized by mild to moderate mental retardation and epilepsy that has material basis in mutation in the ATP6AP2 gene on chromosome Xp11
MeSH: C564516
syndromic X-linked intellectual disability Nascimento type
Human disease
syndromic X-linked intellectual disability Raymond type
syndromic X-linked intellectual disability characterized by intellectual disability and marfanoid habitus that has material basis in mutation in the ZDHHC9 gene on chromosome Xq26.1
syndromic X-linked intellectual disability Shashi type
syndromic X-linked intellectual disability characterized by moderate intellectual deficit, obesity, macroorchidism and a characteristic facies that has material basis in mutation in the RBMX gene on chromosome Xq26
MeSH: C537135
syndromic X-linked intellectual disability Shrimpton type
syndromic X-linked intellectual disability characterized by evere mental retardation, microcephaly, speech delay and variable short stature that has material basis in variation in the chromosomal region Xq12-q21.31
MeSH: C567474
syndromic X-linked intellectual disability Siderius type
Human disease
MeSH: C537333
syndromic X-linked intellectual disability Turner type
Human disease
MeSH: C567476
syndromic X-linked intellectual disability type 10
syndromic X-linked intellectual disability characterized by mild intellectual deficit associated with choreoathetosis and abnormal behaviour that has material basis in mutation in the HSD17B10 gene on chromosome Xp11.22
syndromic X-linked mental retardation 35
human disease
syndromic X-linked mental retardation Hough type
human disease
Syngnathia
syngnathia multiple anomalies
human disease
syngnathia-cleft palate syndrome
human disease
synovial sarcoma
synovium cancer which develops in the synovial membrane of the joints
MeSH: D013584