Search Diseases
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Disease | Synonyms | Description | Articles | Phenotypes |
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Coffin-Siris syndrome 2 |
CSS2; autosomal dominant mental retardation 14; MR..
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A Coffin-Siris syndrome that has_material_basis_in..[+]
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Coffin-Siris syndrome 3 |
CSS3; autosomal dominant mental retardation 15; MR..
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A Coffin-Siris syndrome that has_material_basis_in..[+]
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Coffin-Siris syndrome 4 |
CSS4; autosomal dominant mental retardation 16; MR..
[+]
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A Coffin-Siris syndrome that has_material_basis_in..[+]
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Coffin-Siris syndrome 9 |
autosomal dominant mental retardation 27; MRD27; a..
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An Coffin-Siris syndrome characterized by mild int..[+]
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congenital nongoitrous hypothyroidism 4 |
CHNG4; isolated thyrotropin deficiency
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A congenital hypothyroidism characterized by a per..[+]
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congenital nongoitrous hypothyroidism 2 |
congenital hypothyroidism due to thyroid dysgenesi..
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A congenital hypothyroidism that has_material_basi..[+]
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congenital nongoitrous hypothyroidism 5 |
CHNG5
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A congenital hypothyroidism that has_material_basi..[+]
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congenital nongoitrous hypothyroidism 1 |
CHNG1; TSH resistance
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A congenital hypothyroidism that has_material_basi..[+]
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congenital nongoitrous hypothyroidism 3 |
CHNG3
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A congenital hypothyroidism characterized by autos..[+]
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congenital nongoitrous hypothyroidism 6 |
CHNG6
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A congenital hypothyroidism that has_material_basi..[+]
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congenital disorder of glycosylation type IIa |
A congenital disorder of glycosylation type II tha..[+]
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congenital disorder of glycosylation type IIb |
CDGIIb; CDG2B; CDG IIb; glucosidase I deficiency
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A congenital disorder of glycosylation type II tha..[+]
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congenital disorder of glycosylation type IIc |
CDGIIc; CDG2C; CDG IIc; Rambam-Hasharon syndrome
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A congenital disorder of glycosylation type II tha..[+]
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congenital disorder of glycosylation type IId |
CDGIId; CDG IId; CDG2D
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A congenital disorder of glycosylation type II tha..[+]
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congenital disorder of glycosylation type IIe |
A congenital disorder of glycosylation type II tha..[+]
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congenital disorder of glycosylation type IIf |
A congenital disorder of glycosylation type II tha..[+]
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congenital disorder of glycosylation type IIg |
A congenital disorder of glycosylation type II tha..[+]
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congenital disorder of glycosylation type IIh |
A congenital disorder of glycosylation type II tha..[+]
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congenital disorder of glycosylation type IIi |
A congenital disorder of glycosylation type II tha..[+]
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congenital disorder of glycosylation type IIj |
A congenital disorder of glycosylation type II tha..[+]
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congenital disorder of glycosylation type IIk |
A congenital disorder of glycosylation type II tha..[+]
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congenital disorder of glycosylation type IIl |
A congenital disorder of glycosylation type II tha..[+]
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congenital disorder of glycosylation type IIm |
congenital disorder of glycosylation type 2m; deve..
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A congenital disorder of glycosylation type II tha..[+]
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congenital disorder of glycosylation type IIn |
A congenital disorder of glycosylation type II tha..[+]
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congenital disorder of glycosylation type IIo |
A congenital disorder of glycosylation type II tha..[+]
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congenital disorder of glycosylation type IIp |
A congenital disorder of glycosylation type II tha..[+]
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congenital disorder of glycosylation type IIq |
COG2-related congenital disorder of glycosylation; ..
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A congenital disorder of glycosylation type II tha..[+]
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craniolenticulosutural dysplasia |
cranio-lenticulo-sutural dysplasia, CLSD; Boyadjie..
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A syndrome in neonates that is characterized by fa..[+]
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childhood hepatocellular carcinoma |
pediatric hepatocellular carcinoma
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A hepatocellular carcinoma that occurs in children..[+]
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childhood acute myeloid leukemia |
childhood acute myeloid leukaemia; paediatric acut..
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A childhood leukemia that is characterized by the ..[+]
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celery allergy |
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A vegetable allergy triggered by celery (Apium gra..[+]
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cerebellar hypoplasia |
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A cerebellar disease that is characterized by a ce..[+]
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1 articles | |
cerebellar hyplasia/atrophy, epilepsy, and global developmental delay |
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A syndrome with a cerebellar malformation as a maj..[+]
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2 articles | |
classic citrullinemia |
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A citrullinemia that has_material_basis_in homozyg..[+]
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CSF1R-related brain malformation and osteopetrosis |
osteoporosis and infantile neuroaxonal dystrophy
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A neuroaxonal dystrophy that has_material_basis_in..[+]
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cataract 47 |
CTRCT47
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A cataract that has_material_basis_in heterozygous..[+]
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cataract 48 |
CTRCT48
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A cataract that has_material_basis_in homozygous m..[+]
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combined oxidative phosphorylation deficiency 44 |
COXPD44
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A combined oxidative phosphorylation deficiency th..[+]
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combined oxidative phosphorylation deficiency 52 |
COXPD52
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A combined oxidative phosphorylation deficiency ch..[+]
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combined oxidative phosphorylation deficiency 53 |
COXPD53
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A combined oxidative phosphorylation deficiency ch..[+]
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combined oxidative phosphorylation deficiency 54 |
COXPD54
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A combined oxidative phosphorylation deficiency th..[+]
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combined oxidative phosphorylation deficiency 55 |
COXPD55
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A combined oxidative phosphorylation deficiency th..[+]
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combined oxidative phosphorylation deficiency 56 |
COXPD56
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A combined oxidative phosphorylation deficiency ch..[+]
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combined oxidative phosphorylation deficiency 57 |
COXPD57
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A combined oxidative phosphorylation deficiency th..[+]
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carpal tunnel syndrome 1 |
CTS1
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A carpal tunnel syndrome that has_material_basis_i..[+]
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carpal tunnel syndrome 2 |
CTS2
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A carpal tunnel syndrome that has_material_basis_i..[+]
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chromosome 1p36.33 duplication syndrome |
CHROMOSOME 1p36.33 DUPLICATION SYNDROME, ATAD3 GEN..
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A chromosomal duplication syndrome characterized b..[+]
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childhood-onset neurodegeneration with brain atrophy |
A neurodegenerative disease characterized by loss ..[+]
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classic dopamine transporter deficiency syndrome |
classic DTDS; infantile parkinsonism-dystonia 1; P..
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A dopamine transporter deficiency syndrome charact..[+]
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chromosome 16p11.2 deletion syndrome, 593-kb |
Proximal 16p11.2 microdeletion syndrome
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A chromosomal deletion syndrome characterized by l..[+]
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