| Disease |
Synonyms |
Description |
Articles |
Phenotypes |
|
yellow fever
|
Yellow fever, sylvan; urban yellow fever; jungle y..
[+]
Yellow fever, sylvan; urban yellow fever; jungle yellow fever; Sylvatic yellow fever
[-]
|
A viral infectious disease that results in infecti.. [+]A viral infectious disease that results in infection, has_material_basis_in Yellow fever virus, which is transmitted by Aedes, transmitted by Haemagogus, or transmitted by Sabethes species of mosquitoes. The infection has symptom fever, has symptom muscle pain, has symptom backache, has symptom headache, has symptom shivers, has symptom loss of appetite, has symptom jaundice, and has symptom bleeding from the mouth, nose, eyes or stomach leading to vomitus containing blood.
[-]
|
1 articles
|
|
|
yaws
|
Bouba; frambesia; frambosie; thymosis; polypapillo..
[+]Bouba; frambesia; frambosie; thymosis; polypapilloma tropicum; frambesia tropica
[-]
|
A primary bacterial infectious disease that result.. [+]A primary bacterial infectious disease that results in infection located in skin, located in joint or located in bone, has_material_basis_in Treponema pallidum subsp pertenue, which is transmitted by direct skin contact with an infected person. The infection has symptom skin lesions.
[-]
|
|
|
|
yellow nail syndrome
|
|
A syndrome that is characterized by an accumulatio.. [+]A syndrome that is characterized by an accumulation of protein-rich fluid (lymph) in the soft layers of tissue under the skin resulting in pleural effusions, lymphedema (due to lymphatic hypoplasia) and yellow dystrophic nails hat lack a cuticle, grow slowly, and are loose or detached.
[-]
|
|
|
|
Y-linked monogenic disease
|
|
A monogenic disease that has_material_basis_in mut.. [+]A monogenic disease that has_material_basis_in mutations on the Y chromosome.
[-]
|
|
|
|
Yunis-Varon syndrome
|
cleidocranial dysplasia-micrognathia-absent thumbs..
[+]cleidocranial dysplasia-micrognathia-absent thumbs syndrome; cleidocranial dysplasia with micrognathia, absent thumbs, and distal aphalangia
[-]
|
A syndrome characterized by skeletal defects, incl.. [+]A syndrome characterized by skeletal defects, including cleidocranial dysplasia and digital anomalies, and severe neurologic involvement with neuronal loss. Enlarged cytoplasmic vacuoles are found in neurons, muscle, and cartilage. It is usually lethal in infancy and has_material_basis_in homozygous or compound heterozygous mutation in the FIG4 gene on chromosome 6q21.
[-]
|
|
|
|
Y-linked spermatogenic failure 1
|
Y-linked Sertoli cell-only syndrome; SPGFY1; type ..
[+]
Y-linked Sertoli cell-only syndrome; SPGFY1; type I Sertoli cell-only syndrome
[-]
|
A Sertoli cell-only syndrome that has_material_bas.. [+]A Sertoli cell-only syndrome that has_material_basis_in deletions in the Yq11 chromosomal region.
[-]
|
|
|
|
Y-linked spermatogenic failure 2
|
nonobstructive Y-linked spermatogenic failure; SPG..
[+]nonobstructive Y-linked spermatogenic failure; SPGFY2
[-]
|
A spermatogenic failure that is characterized by n.. [+]A spermatogenic failure that is characterized by nonobstroctive azoospermia or oligozoospermia that has_material_basis_in interstitial deletions on the Yq11.221 chromosomal region.
[-]
|
|
|
|
Yoon-Bellen neurodevelopmental syndrome
|
YOBELN
|
A syndrome characterized by onset in the first dec.. [+]A syndrome characterized by onset in the first decade of highly variable neurodevelopmental phenotypes including global developmental delay, intellectual disability, seizures, hearing and visual problems, and ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the OGDHL gene on chromosome 10q11.23.
[-]
|
|
|
|
Y-linked deafness
|
DFNY
|
A nonsyndromic deafness characterized by a Y-lnked.. [+]A nonsyndromic deafness characterized by a Y-lnked inheritance mode.
[-]
|
|
|
|
Y-linked deafness 2
|
DFNY2
|
A Y-linked deafness characterized by male-limited .. [+]A Y-linked deafness characterized by male-limited bilateral progressive sensorineural hearing loss of variable severity, with onset in the third to fifth decades of life that has_material_basis_in mutation in the TBL1Y gene on chromosome Yp11.2.
[-]
|
|
|
|
Y-linked deafness 1
|
DFNY1
|
A Y-linked deafness characterized by male-limited .. [+]A Y-linked deafness characterized by male-limited postlingual progressive sensorineural hearing loss of variable severity, with onset in the first to third decades of life.
[-]
|
|
|
|
endodermal sinus tumor
|
Yolk sac tumour; yolk sac tumor; Yolk Sac neoplasm..
[+]
yolk sac tumor; Yolk sac tumour; Yolk Sac neoplasm; Yolk sac tumor; Hepatoid yolk sac tumour; infantile embryonal carcinoma; endodermal sinus tumour
[-]
|
A germ cell cancer that has_material_basis_in cell.. [+]A germ cell cancer that has_material_basis_in cells that line the yolk sac of the embryo.
[-]
|
|
|
|
central nervous system endodermal sinus tumor
|
Yolk Sac tumour of the CNS; Yolk Sac tumor of the ..
[+]
Yolk Sac tumour of the CNS; Yolk Sac tumor of the CNS; childhood central nervous system endodermal sinus neoplasm; central nervous system endodermal sinus tumour; paediatric central nervous system Yolk Sac tumour; pediatric central nervous system Yolk Sac tumor
[-]
|
n_a
|
|
|
|
cowpox
|
yaba
|
A viral infectious disease that results_in infecti.. [+]A viral infectious disease that results_in infection in rodents, cows, and humans, located_in skin, has_material_basis_in Cowpox virus, which is transmitted_by contact with an infected animal. The infection results_in_formation_of vesicopustular lesions on the hands or face.
[-]
|
|
|
|
late yaws
|
Yaws gummata and ulcers; Yaws gummata and ulcers (..
[+]
Yaws gummata and ulcers; Yaws gummata and ulcers (disorder); Gummata and ulcers due to yaws; gummatous frambeside; nodular late yaws; nodular late yaws (disorder); Ulcers of yaws; Gummata of yaws; multiple papillomata due to yaws and wet crab yaws
[-]
|
A yaws that appears after five years of the initia.. [+]A yaws that appears after five years of the initial infection and is characterized by disabling consequences of the nose, bones and palmar/plantar hyperkeratosis.
[-]
|
|
|
|
3-M syndrome
|
Yakut short stature syndrome; gloomy face syndrome..
[+]
Yakut short stature syndrome; gloomy face syndrome; Le Merrer syndrome; three M syndrome; Miller-McKusick-Malvaux syndrome; dolichospondylic dysplasia
[-]
|
A syndrome characterized by dwarfism, facial dysmo.. [+]A syndrome characterized by dwarfism, facial dysmorphia and skeletal abnormalities.
[-]
|
|
|
|
autosomal recessive distal hereditary motor neuronopathy 5
|
young adult-onset distal hereditary motor neuropat..
[+]
young adult-onset distal hereditary motor neuropathy; young adult-onset dHMN; autosomal recessive distal spinal muscular atrophy type 5; DSMA5; distal spinal muscular atrophy type 5
[-]
|
An autosomal recessive distal hereditary motor neu.. [+]An autosomal recessive distal hereditary motor neuronopathy characterized by young adult onset of slowly progressive distal muscle weakness and atrophy resulting in gait impairment and loss of reflexes that has_material_basis_in homozygous or compound heterozygous mutation in DNAJB2 on 2q35.
[-]
|
|
|
|
pancreatic hypoplasia-diabetes-congenital heart disease syndrome
|
Yorifuji-Okuno syndrome; congenital heart defects ..
[+]
Yorifuji-Okuno syndrome; congenital heart defects and other congenital anomalies; congenital pancreatic hypoplasia with diabetes mellitus and congenital heart disease; HDCA; PACHD; pancreatic agenesis and congenital heart defects
[-]
|
A syndrome characterized by partial pancreatic age.. [+]A syndrome characterized by partial pancreatic agenesis, diabetes mellitus, and heart anomalies that has_material_basis_in heterozygous mutation in GATA6 on chromosome 18q11.2.
[-]
|
1 articles
|
|
