Search Diseases
???pagination.result.count???
???pagination.result.page??? ???pagination.result.prev??? 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 ???pagination.result.next???
Disease | Synonyms | Description | Articles | Phenotypes |
---|---|---|---|---|
chromosome 16p11.2 deletion syndrome, 220kb |
distal 16p11.2 microdeletion syndrome
|
n_a
|
||
chromosome 18p deletion syndrome |
De Grouchy syndrome; 18p- syndrome; monosomy 18p
|
n_a
|
||
chromosome 18q deletion syndrome |
deletion 18q; 18q- syndrome; monosomy 18q
|
A chromosomal deletion syndrome that has_material_..[+]
|
||
chromosome 1p36 deletion syndrome |
deletion 1p36; 1p36 deletion syndrome; monosomy 1p..
[+]
|
n_a
|
||
chromosome 22q11.2 deletion syndrome, distal |
distal 22q11.2 microdeletion syndrome
|
n_a
|
||
3p- syndrome |
distal monosomy 3p; chromosome 3pter-P25 deletion ..
[+]
|
n_a
|
||
chromosome 6pter-p24 deletion syndrome |
distal monosomy 6p; 6p subtelomeric deletion syndr..
[+]
|
n_a
|
||
chromosome 16p13.3 duplication syndrome |
n_a
|
|||
chromosome 22q11.2 microduplication syndrome |
duplication 22q11.2; 22q11.2 microduplication synd..
[+]
|
A chromosomal duplication syndrome that has_materi..[+]
|
||
lysinuric protein intolerance |
dibasic amino aciduria II; hyperdibasic aminoacidu..
[+]
|
An amino acid metabolic disorder characterized by ..[+]
|
||
Feingold syndrome |
digital anomalies with short palpebral fissures an..
[+]
|
A syndrome characterized by variable combinations ..[+]
|
||
zebrafish allergy |
Danio rerio allergy
|
A fish allergy triggered by Danio rerio.
|
||
isolated anhidrosis with normal sweat glands |
Dann-Epstein-Sohar syndrome
|
An anhidrosis that has_material_basis in homozygou..[+]
|
||
NGLY1-deficiency |
deficiency of N-glycanase 1; congenital disorder o..
[+]
|
A carbohydrate metabolic disorder that has_materia..[+]
|
||
torsion dystonia 1 |
dystonia musculorum deformans
|
A generalized dystomia characterized by autosomal ..[+]
|
||
Pendred Syndrome |
deafness with goiter; congenital hypothyroidism du..
[+]
|
An autosomal recessive disease characterized by bi..[+]
|
||
basal laminar drusen |
drusen of bruch membrane; cuticular drusen; early ..
[+]
|
A retinal drusen characterized by yellow-white dep..[+]
|
||
autosomal dominant Robinow syndrome 2 |
DRS2
|
A Robinow syndrome characterized by autosomal domi..[+]
|
||
autosomal dominant Robinow syndrome 1 |
DRS1
|
A Robinow syndrome characterized by autosomal domi..[+]
|
||
autosomal dominant Robinow syndrome 3 |
DRS3
|
A Robinow syndrome characterized by autosomal domi..[+]
|
||
microvillus inclusion disease |
A congenital diarrhea characterized by onset of in..[+]
|
|||
congenital diarrhea 5 with tufting enteropathy |
DIAR5; congenital familial intractable diarrhea wi..
[+]
|
A congenital diarrhea characterized by intractable..[+]
|
||
congenital secretory sodium diarrhea 8 |
DIAR8
|
A secretory diarrhea that has_material_basis_in ho..[+]
|
||
hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism |
dentoleukoencephalopathy; ataxia-delayed dentition..
[+]
|
A hypomyelinating leukodystrophy characterized by ..[+]
|
||
septooptic dysplasia |
De Morsier syndrome; septo-optic dysplasia; SOD
|
A syndrome characterized by the classical triad of..[+]
|
||
isolated growth hormone deficiency type IB |
dwarfism of Sindh; congenital IGHD type IB; congen..
[+]
|
An isolated growth hormone deficiency characterize..[+]
|
||
autosomal dominant dyskeratosis congenita 1 |
Dyskeratosis Congenita, Scoggins Type; DKCA1
|
A dyskeratosis congenita that has_material_basis_i..[+]
|
||
autosomal recessive dyskeratosis congenita 1 |
DKCB1
|
A dyskeratosis congenita that has_material_basis_i..[+]
|
||
autosomal dominant dyskeratosis congenita 2 |
DKCA2
|
A dyskeratosis congenita that has_material_basis_i..[+]
|
||
autosomal recessive dyskeratosis congenita 2 |
DKCB2
|
A dyskeratosis congenita that has_material_basis_i..[+]
|
||
autosomal dominant dyskeratosis congenita 3 |
DKCA3
|
A dyskeratosis congenita that has_material_basis_i..[+]
|
||
autosomal recessive dyskeratosis congenita 3 |
DKCB3
|
A dyskeratosis congenita that has_material_basis_i..[+]
|
||
autosomal dominant dyskeratosis congenita 4 |
DKCA4
|
A dyskeratosis congenita that has_material_basis_i..[+]
|
||
autosomal recessive dyskeratosis congenita 4 |
DKCB4
|
A dyskeratosis congenita that has_material_basis_i..[+]
|
||
autosomal recessive dyskeratosis congenita 5 |
DKCB5
|
A dyskeratosis congenita that has_material_basis_i..[+]
|
||
autosomal dominant dyskeratosis congenita 6 |
DKCA6
|
A dyskeratosis congenita that has_material_basis_i..[+]
|
||
autosomal recessive dyskeratosis congenita 6 |
DKCB6
|
A dyskeratosis congenita that has_material_basis_i..[+]
|
||
X-linked dyskeratosis congenita |
DKCX; Zinsser-Cole-Engman syndrome
|
A dyskeratosis congenita that has_material_basis_i..[+]
|
||
Revesz syndrome |
A dyskeratosis congenita that has_material_basis_i..[+]
|
|||
autosomal dominant intellectual developmental disorder 7 |
DYRK1A syndrome; autosomal dominant mental retarda..
[+]
|
An autosomal dominant intellectual developmental d..[+]
|
||
autosomal recessive cutis laxa type IIIA |
De Barsy syndrome A; ARCL3A
|
A autosomal recessive cutis laxa type III that has..[+]
|
||
autosomal recessive cutis laxa type IIIB |
De Barsy syndrome B; ARCL3B
|
An autosomal recessive cutis laxa type III that ha..[+]
|
||
autosomal recessive cutis laxa type III |
De Barsy syndrome; cutis laxa-corneal clouding-int..
[+]
|
A cutis laxa characterized by a progeria-like appe..[+]
|
||
congenital disorder of glycosylation type IIm |
developmental and epileptic encephalopathy 22; con..
[+]
|
A congenital disorder of glycosylation type II tha..[+]
|
||
myofibrillar myopathy 1 |
desminopathy
|
n_a
|
||
mitochondrial DNA depletion syndrome 3 |
deoxyguanosine kinase deficiency
|
A mitochondrial DNA depletion syndrome that is cha..[+]
|
||
herpes simplex virus keratitis |
dendritic keratitis
|
A keratitis that has_material_basis_in herpes simp..[+]
|
||
Heimler syndrome 1 |
Deafness-enamel hypoplasia-nail defects syndrome; ..
[+]
|
A peroxisomal biogenesis disorder that is characte..[+]
|
||
acute myeloid leukemia with t(6;9) (p23;q34.1) |
An acute myeloid leukemia associated with t(6; 9)(..[+]
|
|||
acromesomelic dysplasia-3 |
Demirhan-type acromesomelic dysplasia
|
An acromesomelic dysplasia that has_material_basis..[+]
|
???pagination.result.page??? ???pagination.result.prev??? 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 ???pagination.result.next???