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1 | What is (are) color vision deficiency ? |
1 | What is (are) combined malonic and methylmalonic aciduria ? |
1 | What is (are) combined pituitary hormone deficiency ? |
1 | What is (are) common variable immune deficiency ? |
1 | What is (are) complement component 2 deficiency ? |
1 | What is (are) complement factor I deficiency ? |
1 | What is (are) complete LCAT deficiency ? |
1 | What is (are) cone-rod dystrophy ? |
1 | What is (are) congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency ? |
1 | What is (are) congenital afibrinogenemia ? |
1 | What is (are) congenital bilateral absence of the vas deferens ? |
1 | What is (are) congenital cataracts, facial dysmorphism, and neuropathy ? |
1 | What is (are) congenital central hypoventilation syndrome ? |
1 | What is (are) congenital contractural arachnodactyly ? |
1 | What is (are) congenital deafness with labyrinthine aplasia, microtia, and microdontia ? |
1 | What is (are) congenital diaphragmatic hernia ? |
1 | What is (are) congenital dyserythropoietic anemia ? |
1 | What is (are) congenital fiber-type disproportion ? |
1 | What is (are) congenital fibrosis of the extraocular muscles ? |
1 | What is (are) congenital generalized lipodystrophy ? |
1 | What is (are) congenital hemidysplasia with ichthyosiform erythroderma and limb defects ? |
1 | What is (are) congenital hepatic fibrosis ? |
1 | What is (are) congenital hyperinsulinism ? |
1 | What is (are) congenital hypothyroidism ? |
1 | What is (are) congenital insensitivity to pain ? |
1 | What is (are) congenital insensitivity to pain with anhidrosis ? |
1 | What is (are) congenital leptin deficiency ? |
1 | What is (are) congenital mirror movement disorder ? |
1 | What is (are) congenital myasthenic syndrome ? |
1 | What is (are) congenital neuronal ceroid lipofuscinosis ? |
1 | What is (are) congenital plasminogen deficiency ? |
1 | What is (are) congenital stromal corneal dystrophy ? |
1 | What is (are) congenital sucrase-isomaltase deficiency ? |
1 | What is (are) core binding factor acute myeloid leukemia ? |
1 | What is (are) Cornelia de Lange syndrome ? |
1 | What is (are) corticosteroid-binding globulin deficiency ? |
1 | What is (are) Costeff syndrome ? |
1 | What is (are) Costello syndrome ? |
1 | What is (are) Cowden syndrome ? |
1 | What is (are) cranioectodermal dysplasia ? |
1 | What is (are) craniofacial microsomia ? |
1 | What is (are) craniofacial-deafness-hand syndrome ? |
1 | What is (are) craniometaphyseal dysplasia ? |
1 | What is (are) cri-du-chat syndrome ? |
1 | What is (are) Crigler-Najjar syndrome ? |
1 | What is (are) critical congenital heart disease ? |
1 | What is (are) Crohn disease ? |
1 | What is (are) Crouzon syndrome ? |
1 | What is (are) Crouzonodermoskeletal syndrome ? |
1 | What is (are) cryptogenic cirrhosis ? |
1 | What is (are) Cushing disease ? |
1 | What is (are) cutis laxa ? |
1 | What is (are) cyclic neutropenia ? |
1 | What is (are) cyclic vomiting syndrome ? |
1 | What is (are) cystic fibrosis ? |
1 | What is (are) cystinosis ? |
1 | What is (are) cystinuria ? |
1 | What is (are) cytochrome c oxidase deficiency ? |
1 | What is (are) cytochrome P450 oxidoreductase deficiency ? |
1 | What is (are) cytogenetically normal acute myeloid leukemia ? |
1 | What is (are) Czech dysplasia ? |
1 | What is (are) D-bifunctional protein deficiency ? |
1 | What is (are) Dandy-Walker malformation ? |
1 | What is (are) Danon disease ? |
1 | What is (are) Darier disease ? |
1 | What is (are) deafness and myopia syndrome ? |
1 | What is (are) deafness-dystonia-optic neuronopathy syndrome ? |
1 | What is (are) dentatorubral-pallidoluysian atrophy ? |
1 | What is (are) dentinogenesis imperfecta ? |
1 | What is (are) Denys-Drash syndrome ? |
1 | What is (are) deoxyguanosine kinase deficiency ? |
1 | What is (are) dermatofibrosarcoma protuberans ? |
1 | What is (are) desmoid tumor ? |
1 | What is (are) desmosterolosis ? |
1 | What is (are) Diamond-Blackfan anemia ? |
1 | What is (are) diastrophic dysplasia ? |
1 | What is (are) DICER1 syndrome ? |
1 | What is (are) dihydrolipoamide dehydrogenase deficiency ? |
1 | What is (are) dihydropyrimidinase deficiency ? |
1 | What is (are) dihydropyrimidine dehydrogenase deficiency ? |
1 | What is (are) dilated cardiomyopathy with ataxia syndrome ? |
1 | What is (are) distal arthrogryposis type 1 ? |
1 | What is (are) distal hereditary motor neuropathy, type II ? |
1 | What is (are) distal hereditary motor neuropathy, type V ? |
1 | What is (are) distal myopathy 2 ? |
1 | What is (are) DMD-associated dilated cardiomyopathy ? |
1 | What is (are) DOLK-congenital disorder of glycosylation ? |
1 | What is (are) Donnai-Barrow syndrome ? |
1 | What is (are) Donohue syndrome ? |
1 | What is (are) DOORS syndrome ? |
1 | What is (are) dopa-responsive dystonia ? |
1 | What is (are) dopamine beta-hydroxylase deficiency ? |
1 | What is (are) dopamine transporter deficiency syndrome ? |
1 | What is (are) Dowling-Degos disease ? |
1 | What is (are) Down syndrome ? |
1 | What is (are) Duane-radial ray syndrome ? |
1 | What is (are) Dubin-Johnson syndrome ? |
1 | What is (are) Duchenne and Becker muscular dystrophy ? |
1 | What is (are) dyserythropoietic anemia and thrombocytopenia ? |
1 | What is (are) dyskeratosis congenita ? |
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