Disease Index
9,486 diseasesDaentl Towsend Siegel syndrome
human disease
MeSH: C535768
Dahlberg Borer Newcomer syndrome
medical condition
MeSH: C535769
Dandy-Walker malformation-postaxial polydactyly syndrome
MeSH: C535771
Dandy-Walker syndrome
congenital disorder of nervous system
MeSH: D003616
Danon disease
Human disease
ICD: E74.0MeSH: D052120
dappled diaphyseal dysplasia
human disease
Davenport-Donlan syndrome
MeSH: C535988
Davis Lafer syndrome
human disease
MeSH: C535989
DDX41-related hematologic malignancy predisposition syndrome
human disease
De Barsy syndrome
human disease
ICD: Q87.8MeSH: C535990
deafness dystonia syndrome
mitochondrial metabolism disease that is characterized by hearing loss that begins early in life, problems with movement, impaired vision, and behavior problems
MeSH: C535808
deafness with labyrinthine aplasia, microtia, and microdontia
Deafness with labyrinthine aplasia, microtia, and microdontia (LAMM) is a genetic transmission deafness syndrome
MeSH: C548011
deafness-craniofacial syndrome
rare disease
MeSH: C565118
deafness-ear malformation-facial palsy syndrome
MeSH: C565123
deafness-enamel hypoplasia-nail defects syndrome
medical condition
MeSH: C535994
deafness-epiphyseal dysplasia-short stature syndrome
This syndrome is characterised by sensorineural deafness, short stature, femoral epiphyseal dysplasia, umbilical and inguinal hernias and developmental delay (growth retardation and mild intellectual deficit)
MeSH: C535928
deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome
MeSH: C537887
deafness-hypogonadism syndrome
This syndrome is characterized by the association of congenital mixed hearing loss with perilymphatic gusher (Gusher syndrome or DFN3; see this term), hypogonadism and abnormal behavior
MeSH: C564435
deafness-infertility syndrome
Deafness-infertility syndrome (DIS) is a very rare syndrome associating sensorineural deafness and male infertility
MeSH: C567010
deafness-intellectual disability, Martin-Probst type syndrome
syndromic X-linked intellectual disability characterized by severe bilateral deafness, intellectual disability, umbilical hernia and abnormal dermatoglyphics that has material basis in variation on the X chromosome
MeSH: C564495
deafness-oligodontia syndrome
MeSH: C538049
deafness-onychodystrophy syndrome
human disease
deafness-small bowel diverticulosis-neuropathy syndrome
Deafness-small bowel diverticulosis-neuropathy syndrome is characterised by progressive sensorineural deafness, progressive sensory neuropathy and gastrointestinal abnormalities (progressive loss of gastric motility, small bowel diverticulosis)
MeSH: C537305
deafness-vitiligo-achalasia syndrome
Deafness-vitiligo-achalasia syndrome is characterized by the association of deafness, short stature, vitiligo, muscle wasting, and achalasia
MeSH: C565642
deafness, sensorineural, with peripheral neuropathy and arterial disease
human disease
MeSH: C565120
dedifferentiated liposarcoma
liposarcoma that is characterized as a high-grade tumor that occurs when a lower-grade tumor changes and creates new high-grade cells
deep dermatophytosis
human disease
defect in conserved oligomeric Golgi complex
human disease
defect in v-ATPase
human disease
deficiency anemia
Human disease
ICD: D53