Search Diseases
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Disease | Synonyms | Description | Articles | Phenotypes |
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cepacia syndrome |
CS
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An opportunistic bacterial infectious disease char..[+]
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congenital glutamine deficiency |
congenital systemic glutamine synthase deficiency; ..
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An amino acid metabolic disorder characterized by ..[+]
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chromosomal disease |
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A genetic disease that has_material_basis_in extra..[+]
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27 articles | 19 matches |
craniodiaphyseal dysplasia |
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An osteosclerosis that results_in increased calciu..[+]
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craniometaphyseal dysplasia |
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An osteosclerosis that is characterized by hyperos..[+]
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1 articles | |
Charcot-Marie-Tooth disease type 5 |
hereditary motor and sensory neuropathy with pyram..
[+]
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A Charcot-Marie-Tooth disease that is characterize..[+]
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Charcot-Marie-Tooth disease type 6 |
hereditary motor and sensory neuropathy type 6
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A Charcot-Marie-Tooth disease that is characterize..[+]
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Charcot-Marie-Tooth disease type 7 |
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A Charcot-Marie-Tooth disease that is characterize..[+]
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Compton-North congenital myopathy |
congenital myopathy 12
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A congenital myopathy that has_material_basis_in h..[+]
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congenital myopathy 4A |
congenital fiber-type disproportion; CFTD
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A congenital myopathy that is characterized by ske..[+]
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cylindrical spirals myopathy |
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A congenital myopathy that is characterized by glo..[+]
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contractures, pterygia, and spondylocarpotarsal fusion syndrome |
multiple pterygium syndrome
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A syndrome that is characterized by permanently be..[+]
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congenital fibrosis of the extraocular muscles |
Tukel syndrome
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An ocular motility disease that is characterized b..[+]
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childhood acute lymphocytic leukemia |
Childhood Acute Lymphoblastic Leukemia
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An acute lymphocytic leukemia occurring during chi..[+]
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childhood T-cell acute lymphoblastic leukemia |
childhood precursor T-lymphoblastic lymphoma/leuke..
[+]
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A childhood acute lymphoblastic leukemia that has_..[+]
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childhood B-cell acute lymphoblastic leukemia |
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A childhood acute lymphoblastic leukemia that has_..[+]
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Cryptococcal meningitis |
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A fungal meningitis that has_material_basis_in Cry..[+]
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Cytomegalovirus retinitis |
CMV retinitis
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A retinitis that has_material_basis_in Cytomegalov..[+]
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cutaneous candidiasis |
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A candidiasis that is characterized by Candida inf..[+]
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cloacal exstrophy |
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A bladder exstrophy-epispadias-cloacal exstrophy c..[+]
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chronic neutrophilic leukemia |
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A chronic leukemia characterized by neutrophilic l..[+]
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chronic myelomonocytic leukemia |
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A chronic leukemia characterized by monocytosis, i..[+]
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Carey-Fineman-Ziter syndrome |
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A syndrome characterized by hypotonia, Moebius seq..[+]
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congenital muscular dystrophy with cataracts and intellectual disability |
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A congenital muscular dystrophy characterized by o..[+]
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colorectal carcinoma |
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A colorectal cancer that arises from the colon or ..[+]
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1 articles | |
CAKUT |
Congenital anomalies of the kidney and urinary tra..
[+]
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A urinary system disease characterized by structur..[+]
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8 articles | 21 matches |
CAKUT1 |
Congenital anomalies of the kidney and urinary tra..
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A CAKUT that has_material_basis_in heterozygous mu..[+]
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CAKUT2 |
Congenital anomalies of the kidney and urinary tra..
[+]
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A CAKUT that has_material_basis_in heterozygous mu..[+]
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Clark-Baraitser syndrome |
CLABARS; autosomal dominant intellectual disabilit..
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An autosomal dominant intellectual developmental d..[+]
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Charcot-Marie-Tooth disease dominant intermediate G |
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A Charcot-Marie-Tooth disease intermediate type th..[+]
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Coffin-Siris syndrome 6 |
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A Coffin-Siris syndrome that is characterized by s..[+]
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cleft palate-lateral synechia syndrome |
CPLS syndrome; syngnathia
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A physical disorder that is characterized by fusio..[+]
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cone-rod dystrophy 14 |
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A cone-rod dystrophy that is characterized by dete..[+]
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Culler-Jones syndrome |
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A syndrome that is characterized by hypopituitaris..[+]
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cold-induced sweating syndrome 1 |
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A cold-induced sweating syndrome that has_material..[+]
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cold-induced sweating syndrome 2 |
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A cold-induced sweating syndrome that has_material..[+]
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cold-induced sweating syndrome 3 |
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A cold-induced sweating syndrome that has_material..[+]
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CLOVES syndrome |
congenital lipomatous overgrowth, vascular malform..
[+]
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A syndrome that is characterized by congenital lip..[+]
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chronic eosinophilic leukemia |
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A chronic leukemia characterized by a clonal proli..[+]
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cerebral cavernous malformation 1 |
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A cerebral cavernous malformation that has_materia..[+]
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Cornelia de Lange syndrome 1 |
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A Cornelia de Lange syndrome that has_material_bas..[+]
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Cornelia de Lange syndrome 2 |
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A Cornelia de Lange syndrome that has_material_bas..[+]
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Cornelia de Lange syndrome 3 |
Cornelia De Lange syndrome 3 with or without midli..
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A Cornelia de Lange syndrome that has_material_bas..[+]
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Cornelia de Lange syndrome 4 |
Cornelia De Lange syndrome 4 with or without midli..
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A Cornelia de Lange syndrome that has_material_bas..[+]
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Cornelia de Lange syndrome 5 |
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A Cornelia de Lange syndrome that has_material_bas..[+]
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Carney-Stratakis syndrome |
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A syndrome that is characterized by the presence o..[+]
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congenital disorder of glycosylation Ia |
congenital disorder of glycosylation 1a; PMM2-cong..
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A congenital disorder of glycosylation I that is c..[+]
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congenital disorder of glycosylation Iaa |
congenital disorder of glycosylation 1aa
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A congenital disorder of glycosylation I that is c..[+]
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congenital disorder of glycosylation Ib |
congenital disorder of glycosylation 1b
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A congenital disorder of glycosylation I that is c..[+]
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congenital disorder of glycosylation Ic |
congenital disorder of glycosylation 1c
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A congenital disorder of glycosylation I that is c..[+]
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