Search Diseases
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Disease | Synonyms | Description | Articles | Phenotypes |
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congenital nystagmus 5 |
X-linked congenital nystagmus 5; NYS5
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A congenital nystagmus that has_material_basis_in ..[+]
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CHILD syndrome |
congenital hemidysplasia with ichthyosiform nevus ..
[+]
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A syndrome characterized by congenital hemidysplas..[+]
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congenital nongoitrous hypothyroidism 9 |
CHNG9
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A congenital hypothyroidism characterized by a sma..[+]
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congenital nongoitrous hypothyroidism 7 |
A congenital hypothyroidism characterized by norma..[+]
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congenital nongoitrous hypothyroidism 8 |
CHNG8
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A congenital hypothyroidism characterized by relat..[+]
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congenital disorder of glycosylation Icc |
congenital disorder of glycosylation type Icc
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A congenital disorder of glycosylation type I char..[+]
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congenital bilateral absence of vas deferens |
A male infertility that is characterized by bilate..[+]
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CK syndrome |
X-linked intellectual disability-microcephaly-cort..
[+]
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A lipid metabolism disorder characterized by incre..[+]
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combined immunodeficiency |
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A primary immunodeficiency disease that involves m..[+]
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congenital megabladder |
MGBL
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A bladder disease characterized by a massively dil..[+]
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chromosome Xp11.22 duplication syndrome |
MRX17; MRX31; X-linked mental retardation 17; X-li..
[+]
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A non-syndromic X-linked intellectual disability c..[+]
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chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia |
X-linked dominant chondrodysplasia, Chassaing-Laco..
[+]
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A syndrome characterized by chondrodysplasia assoc..[+]
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combined oxidative phosphorylation deficiency 49 |
COXPD49
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A combined oxidative phosphorylation deficiency th..[+]
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combined oxidative phosphorylation deficiency 50 |
COXPD50
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A combined oxidative phosphorylation deficiency th..[+]
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combined oxidative phosphorylation deficiency 48 |
COXPD48
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A combined oxidative phosphorylation deficiency th..[+]
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combined oxidative phosphorylation deficiency 45 |
COXPD45
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A combined oxidative phosphorylation deficiency th..[+]
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combined oxidative phosphorylation deficiency 47 |
COXPD47
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A combined oxidative phosphorylation deficiency th..[+]
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combined oxidative phosphorylation deficiency 46 |
COXPD46
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A combined oxidative phosphorylation deficiency th..[+]
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combined oxidative phosphorylation deficiency 43 |
COXPD43
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A combined oxidative phosphorylation deficiency th..[+]
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combined oxidative phosphorylation deficiency 40 |
COXPD40; QRSL1-related COXPD
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A combined oxidative phosphorylation deficiency th..[+]
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combined oxidative phosphorylation deficiency 42 |
COXPD42
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A combined oxidative phosphorylation deficiency th..[+]
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combined oxidative phosphorylation deficiency 41 |
COXPD41
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A combined oxidative phosphorylation deficiency th..[+]
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combined oxidative phosphorylation deficiency 51 |
COXPD51
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A combined oxidative phosphorylation deficiency th..[+]
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corpus callosum agenesis-abnormal genitalia syndrome |
corpus callosum agenesis with abnormal genitalia; ..
[+]
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A syndrome characterized by agenesis of the corpus..[+]
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CHIME syndrome |
congenital disorder of glycosylation due to PIGL d..
[+]
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A syndrome characterized by colobomas, congenital ..[+]
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combined deficiency of vitamin K-dependent clotting factors 1 |
VKCFD1
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A hereditary combined deficiency of vitamin K-depe..[+]
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combined deficiency of vitamin K-dependent clotting factors 2 |
VKCFD2
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A hereditary combined deficiency of vitamin K-depe..[+]
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chondrodysplasia with joint dislocations gPAPP type |
gPAPP deficiency
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An osteochondrodysplasia characterized by prenatal..[+]
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congenital symmetric circumferential skin creases 1 |
CSCSC1
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A multiple benign circumferential skin creases on ..[+]
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congenital symmetric circumferential skin creases 2 |
CSCSC2
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A multiple benign circumferential skin creases on ..[+]
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congenital heart defects, dysmorphic facial features, and intellectual developmental disorder |
A syndrome characterized by congenital heart defec..[+]
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combined cellular and humoral immune defects with granulomas |
A combined immunodeficiency characterized by combi..[+]
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central precocious puberty |
CPP; gonadotropin-dependant precocious puberty
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An endocrine system disease characterized by early..[+]
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central precocious puberty 2 |
CPPB2
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A central precocious puberty that has_material_bas..[+]
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central precocious puberty 1 |
CPPB1
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A central precocious puberty that has_material_bas..[+]
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craniotubular dysplasia Ikegawa type |
CTDI
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A craniodiaphyseal dysplasia characterized by chil..[+]
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congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay |
CAKUTHED
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A syndrome characterized by variable congenital an..[+]
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Coffin-Siris syndrome 8 |
CSS8
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A Coffin-Siris syndrome characterized by variable ..[+]
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Coffin-Siris syndrome 5 |
CSS5
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A Coffin-Siris syndrome characterized by delayed p..[+]
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Coffin-Siris syndrome 7 |
CSS7
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A Coffin-Siris syndrome characterized by global de..[+]
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Coffin-Siris syndrome 12 |
CSS12
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A Coffin-Siris syndrome characterized by global de..[+]
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Coffin-Siris syndrome 10 |
CSS10
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A Coffin-Siris syndrome characterized by mild to s..[+]
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Coffin-Siris syndrome 11 |
CSS11
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A Coffin-Siris syndrome characterized by global de..[+]
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aortic valve insufficiency |
Corrigan's disease; aortic incompetence; Rheumatic..
[+]
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An aortic valve disease that is characterized by l..[+]
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mitral valve disease |
n_a
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1 articles | ||
degenerative disc disease |
cervical disc degenerative disease; vertebral disc..
[+]
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A bone deterioration disease that has_material_bas..[+]
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heart cancer |
Cardiac tumor; malignant Cardiac tumor; malignant ..
[+]
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A cardiovascular cancer located_in the heart.
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bone cancer |
CA - bone cancer; malignant bone neoplasm; maligna..
[+]
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A connective tissue cancer that is located_in bone..[+]
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8 articles | 8 matches |
reproductive organ cancer |
cancer of reproductive system; malignant reproduct..
[+]
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An organ system cancer that is manifested in the r..[+]
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9 articles | |
heel spur |
Calcaneal spur
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An exostosis that results_in an abnormal growth lo..[+]
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