Search Diseases
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Disease | Synonyms | Description | Articles | Phenotypes |
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corneal endothelial dystrophy |
endothelial dystrophy
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n_a
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congenital stromal corneal dystrophy |
CSCD; congenital hereditary stromal dystrophy
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n_a
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chromosome 2q31.1 duplication syndrome |
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n_a
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chromosome 3q29 microduplication syndrome |
3q29 microduplication; trisomy 3q29
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n_a
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chromosome 5p13 duplication syndrome |
5p13 microduplication syndrome; trisomy 5p13
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n_a
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chromosome Xp11.23-p11.22 duplication syndrome |
microduplication Xp11.22-p11.23 syndrome; trisomy ..
[+]
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A chromosomal duplication syndrome that has_materi..[+]
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childhood onset epileptic encephalopathy |
EEOC
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An idiopathic generalized epilepsy characterized b..[+]
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chicken egg allergy |
Gallus gallus egg allergy
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An egg allergy triggered by Gallus gallus eggs.
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cherry allergy |
Prunus avium fruit allergy
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A fruit allergy triggered by Prunus avium plant fr..[+]
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carp allergy |
Cyprinus carpio fish allergy
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A fish allergy triggered by Cyprinus carpio.
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cow milk allergy |
Bos taurus milk allergy
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A milk allergy triggered by Bos taurus milk.
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crustacean allergy |
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A shellfish allergy triggered by Crustacea.
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Char syndrome |
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A patent ductus arteriosus with facial dysmorphism..[+]
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cardiac tuberculosis |
cardiovascular tuberculosis
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n_a
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chondrodysplasia-pseudohermaphroditism syndrome |
chondrodysplasia-disorder of sex development syndr..
[+]
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A syndrome characterized by the clinical features ..[+]
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chronic recurrent multifocal osteomyelitis |
CRMO; chronic multifocal osteomyelitis
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An osteomyelitis characterized by multiple foci of..[+]
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congenital chylothorax |
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A pleural disease characterized by the accumulatio..[+]
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corneal opacification and other ocular anomalies |
sclerocornea with other ocular anomalies
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A sclerocornea that has_material_basis_in homozygo..[+]
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congenital hereditary endothelial dystrophy of cornea |
CHED
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A corneal endothelial dystrophy that has_material_..[+]
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cerebral cavernous malformation |
A vascular anomaly of the central nervous system c..[+]
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cerebral cavernous malformation 2 |
CCM2
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A cerebral cavernous malformation that_has_materia..[+]
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cerebral cavernous malformation 3 |
CCM3
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A cerebral cavernous malformation that has_materia..[+]
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catecholaminergic polymorphic ventricular tachycardia |
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A heart conduction disease characterized by adrene..[+]
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catecholaminergic polymorphic ventricular tachycardia 1 |
CVPT1
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A catecholaminergic polymorphic ventricular tachyc..[+]
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catecholaminergic polymorphic ventricular tachycardia 2 |
CVPT2
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A catecholaminergic polymorphic ventricular tachyc..[+]
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catecholaminergic polymorphic ventricular tachycardia 3 |
CVPT3
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A catecholaminergic polymorphic ventricular tachyc..[+]
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catecholaminergic polymorphic ventricular tachycardia 4 |
CVPT4
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A catecholaminergic polymorphic ventricular tachyc..[+]
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catecholaminergic polymorphic ventricular tachycardia 5 |
CVPT5
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A catecholaminergic polymorphic ventricular tachyc..[+]
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Cayman type cerebellar ataxia |
Cayman cerebellar ataxia
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A cerebellar ataxia characterized by marked autoso..[+]
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congenital central hypoventilation syndrome |
congenital central alveolar hypoventilation syndro..
[+]
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An autonomic nervous system disease characterized ..[+]
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chromosome 9p deletion syndrome |
9p syndrome; Alfi syndrome; monosomy 9p syndrome
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A chromosome deletion syndrome characterized by tr..[+]
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cleft lip-palate-ectodermal dysplasia syndrome |
An autosomal recessive disease characterized by cl..[+]
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congenital diarrhea |
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A diarrhea characterized by frequent loose or liqu..[+]
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congenital diarrhea 5 with tufting enteropathy |
A congenital diarrhea characterized by intractable..[+]
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congenital secretory sodium diarrhea 8 |
DIAR8
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A secretory diarrhea that has_material_basis_in ho..[+]
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congenital diarrhea 7 with exudative enteropathy |
congenital chronic diarrhea with protein-losing en..
[+]
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A congenital diarrhea characterized by watery diar..[+]
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congenital malabsorptive diarrhea 4 |
congenital malabsorptive diarrhea due to paucity o..
[+]
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A congenital diarrhea characterized by chronic unr..[+]
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congenital diarrhea 6 |
chronic diarrhea due to guanylate cyclase 2C overa..
[+]
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A congenital diarrhea characterized by mild, early..[+]
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congenital secretory sodium diarrhea 3 |
congenital secretory sodium diarrhoea 3 with or wi..
[+]
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A secretory diarrhea that has_material_basis_in ho..[+]
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corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome |
corpus callosum, agenesis of, with mental retardat..
[+]
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A syndromic X-linked intellectual disability chara..[+]
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Christianson syndrome |
mental retardation, microcephaly, epilepsy, and at..
[+]
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A syndromic X-linked intellectual disability chara..[+]
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CST3-related cerebral amyloid angiopathy |
Cerebral Hemorrhage, Hereditary, with Amyloidosis; ..
[+]
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A cerebral amyloid angiopathy that has_material_ba..[+]
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Coffin-Siris syndrome 1 |
CSS1; autosomal dominant mental retardation 12; fi..
[+]
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An autosomal dominant non-syndromic intellectual d..[+]
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Coffin-Siris syndrome 2 |
CSS2; autosomal dominant mental retardation 14; MR..
[+]
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An autosomal dominant non-syndromic intellectual d..[+]
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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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An autosomal dominant non-syndromic intellectual d..[+]
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congenital nongoitrous hypothryoidism 4 |
CHNG4; isolated thyrotropin deficiency
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A congenital hypothyroidism characterized by a per..[+]
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congenital nongoitrous hypothryoidism 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 hypothryoidism 1 |
CHNG1; TSH resistance
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A congenital hypothyroidism that has_material_basi..[+]
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