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OMIM Entry - # 187300 - TELANGIECTASIA, HEREDITARY ...

187300 - TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1; HHT1 - HHT;; TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER;; OSLER-RENDU-WEBER DISEASE;; ORW DISEASE
Mendelian Inheritance in Man, OMIM, Mendelian diseases, Mendelian disorders, genetic diseases, genetic disorders, genetic disorders in humans, genetic phenotypes, phenotype and genotype, disease models, alleles, genes, dna, genetics, dna testing, gene testing, clinical synopsis, medical genetics

OMIM Entry - # 187300 - TELANGIECTASIA, HEREDITARY ...


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3-METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY ...

614739 - 3-METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME; MEGDEL - 3-METHYLGLUTACONIC ACIDURIA WITH DYSTONIA-DEAFNESS, HEPATOPATHY, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME; MEGDHEL;; 3-METHYLGLUTACONIC ACIDURIA, TYPE VI; MGCA6
Mendelian Inheritance in Man, OMIM, Mendelian diseases, Mendelian disorders, genetic diseases, genetic disorders, genetic disorders in humans, genetic phenotypes, phenotype and genotype, disease models, alleles, genes, dna, genetics, dna testing, gene testing, clinical synopsis, medical genetics

3-METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY ...


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OMIM Entry - # 607616 - NIEMANN-PICK DISEASE, TYPE B

607616 - NIEMANN-PICK DISEASE, TYPE B - NIEMANN-PICK DISEASE, TYPE E, INCLUDED;; NIEMANN-PICK DISEASE, TYPE F, INCLUDED;; NIEMANN-PICK DISEASE, INTERMEDIATE, WITH VISCERAL INVOLVEMENT AND RAPID PROGRESSION, INCLUDED
Mendelian Inheritance in Man, OMIM, Mendelian diseases, Mendelian disorders, genetic diseases, genetic disorders, genetic disorders in humans, genetic phenotypes, phenotype and genotype, disease models, alleles, genes, dna, genetics, dna testing, gene testing, clinical synopsis, medical genetics

OMIM Entry - # 607616 - NIEMANN-PICK DISEASE, TYPE B


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