| D008297 |
Male |
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Males |
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| D009154 |
Mutation |
Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. |
Mutations |
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| D009958 |
Orofaciodigital Syndromes |
Two syndromes of oral, facial, and digital malformations. Type I (Papillon-Leage and Psaume syndrome, Gorlin-Psaume syndrome) is inherited as an X-linked dominant trait and is found only in females and XXY males. Type II (Mohr syndrome) is inherited as an autosomal recessive trait. |
Gorlin-Psaume Syndrome,Mohr Syndrome,Papillon-Leage and Psaume Syndrome,Dysplasia Linguofacialis,Oral-Facial-Digital Syndrome,Oral-Facial-Digital Syndrome, Type I,Oral-Facial-Digital Syndrome, Type II,Oro-Facio-Digital Syndrome,Orodigitofacial Dysostosis,Orodigitofacial Syndrome,Orofaciodigital Syndrome,Orofaciodigital Syndrome I,Orofaciodigital Syndrome II,Gorlin Psaume Syndrome,Oral Facial Digital Syndrome, Type I,Oral Facial Digital Syndrome, Type II,Orofaciodigital Syndrome IIs,Orofaciodigital Syndrome Is,Papillon Leage and Psaume Syndrome,Syndrome, Gorlin-Psaume,Syndrome, Mohr,Syndrome, Orofaciodigital,Syndromes, Orofaciodigital |
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| D001764 |
Blepharospasm |
Excessive winking; tonic or clonic spasm of the orbicularis oculi muscle. |
Blepharospasms |
|
| D004252 |
DNA Mutational Analysis |
Biochemical identification of mutational changes in a nucleotide sequence. |
Mutational Analysis, DNA,Analysis, DNA Mutational,Analyses, DNA Mutational,DNA Mutational Analyses,Mutational Analyses, DNA |
|
| D004421 |
Dystonia |
An attitude or posture due to the co-contraction of agonists and antagonist muscles in one region of the body. It most often affects the large axial muscles of the trunk and limb girdles. Conditions which feature persistent or recurrent episodes of dystonia as a primary manifestation of disease are referred to as DYSTONIC DISORDERS. (Adams et al., Principles of Neurology, 6th ed, p77) |
Muscle Dystonia,Dystonia, Diurnal,Dystonia, Limb,Dystonia, Paroxysmal,Diurnal Dystonia,Dystonia, Muscle,Limb Dystonia,Paroxysmal Dystonia |
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| D006801 |
Humans |
Members of the species Homo sapiens. |
Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man |
|
| D000090622 |
Mitochondrial Precursor Protein Import Complex Proteins |
Multiprotein complexes that mediate import and sorting of mitochondrial preproteins into one of the four mitochondrial subcompartments: the outer membrane, the intermembrane space, the inner membrane, and the matrix. Mitochondrial protein import machinery includes translocase of the outer membrane (TOM) complex, translocases of the inner membrane (TIM) complex, beta‐barrel pathway complex, the mitochondrial intermembrane space import and assembly (MIA) pathway complex, carrier proteins of the inner membrane and the TIM23 complex and sorting and assembly machinery (SAM) complex. |
MIA Complex,MIM Complex,Mitochondrial Import Complex,Mitochondrial Intermembrane Space Import and Assembly Complex,Mitochondrial Precursor Protein Import Machinery Proteins,Mitochondrial Preprotein Translocases,Mitochondrial Protein Import Machinery Proteins,SAM Complex,Sorting and Assembly Machinery Complex,TIM Complex,TIM23 Complex,TIMM Complex,TOM Channel,TOM Complex,TOM Translocase,TOMM Complex,TOMM Machinery,Translocase Outer Mitochondrial Membrane,Translocase of the Inner Membrane Complex,Translocase of the Inner Mitochondrial Membrane Complex,Translocase of the Outer Membrane Complex,Translocases of the Inner Membrane 23 Complex,Translocases of the Inner Membrane Complex,Import Complex, Mitochondrial,Preprotein Translocases, Mitochondrial,Translocase, TOM,Translocases, Mitochondrial Preprotein |
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| D000328 |
Adult |
A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available. |
Adults |
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| D022821 |
RNA Splice Sites |
Nucleotide sequences located at the ends of EXONS and recognized in pre-messenger RNA by SPLICEOSOMES. They are joined during the RNA SPLICING reaction, forming the junctions between exons. |
Splice Acceptor Site,Splice Donor Site,3' Splice Site,5' Splice Site,Alternative Splice Sites,Cryptic Splice Sites,3' Splice Sites,5' Splice Sites,Acceptor Site, Splice,Acceptor Sites, Splice,Alternative Splice Site,Cryptic Splice Site,Donor Site, Splice,Donor Sites, Splice,Splice Acceptor Sites,Splice Donor Sites,Splice Site, 3',Splice Site, 5',Splice Site, Alternative,Splice Site, Cryptic,Splice Sites, 3',Splice Sites, 5',Splice Sites, Alternative,Splice Sites, Cryptic |
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