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Case of palmoplantar keratoderma with sensorineural deafness and mental retardation that may be another variant of syndromic palmoplantar keratoderma. 2013

Daisuke Utsumi, and Fukuko Hanashiro, and Takuya Miyagi, and Yuichi Yamamoto, and Hiroshi Uezato, and Kenzo Takahashi

UI MeSH Term Description Entries
D007645 Keratoderma, Palmoplantar Group of mostly hereditary disorders characterized by thickening of the palms and soles as a result of excessive keratin formation leading to hypertrophy of the stratum corneum (hyperkeratosis). Hyperkeratosis Palmaris et Plantaris,Keratosis Palmaris et Plantaris,Keratosis, Palmoplantar,Meleda Disease,Palmoplantar Keratoderma,Keratosis Palmoplantaris Transgradiens of Siemens,Mal de Meleda,Disease, Meleda,Keratodermas, Palmoplantar,Keratoses, Palmoplantar,Meleda, Mal de,Palmoplantar Keratodermas,Palmoplantar Keratoses,Palmoplantar Keratosis,de Meleda, Mal
D008297 Male Males
D008607 Intellectual Disability Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual has an intellectual disability. IQ scores between 70 and 79 are in the borderline range. Scores below 67 are in the disabled range. (from Joynt, Clinical Neurology, 1992, Ch55, p28) Disability, Intellectual,Idiocy,Mental Retardation,Retardation, Mental,Deficiency, Mental,Intellectual Development Disorder,Mental Deficiency,Mental Retardation, Psychosocial,Deficiencies, Mental,Development Disorder, Intellectual,Development Disorders, Intellectual,Disabilities, Intellectual,Disorder, Intellectual Development,Disorders, Intellectual Development,Intellectual Development Disorders,Intellectual Disabilities,Mental Deficiencies,Mental Retardations, Psychosocial,Psychosocial Mental Retardation,Psychosocial Mental Retardations,Retardation, Psychosocial Mental,Retardations, Psychosocial Mental
D008875 Middle Aged An adult aged 45 - 64 years. Middle Age
D006319 Hearing Loss, Sensorineural Hearing loss resulting from damage to the COCHLEA and the sensorineural elements which lie internally beyond the oval and round windows. These elements include the AUDITORY NERVE and its connections in the BRAINSTEM. Deafness Neurosensory,Deafness, Neurosensory,Deafness, Sensoryneural,Neurosensory Deafness,Sensorineural Hearing Loss,Sensoryneural Deafness,Cochlear Hearing Loss,Hearing Loss, Cochlear,Deafnesses, Neurosensory,Deafnesses, Sensoryneural,Neurosensory Deafnesses,Sensoryneural Deafness,Sensoryneural Deafnesses
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D013577 Syndrome A characteristic symptom complex. Symptom Cluster,Cluster, Symptom,Clusters, Symptom,Symptom Clusters,Syndromes
D017630 Connexins A group of homologous proteins which form the intermembrane channels of GAP JUNCTIONS. The connexins are the products of an identified gene family which has both highly conserved and highly divergent regions. The variety contributes to the wide range of functional properties of gap junctions. Connexin,Connexin Complex Proteins,Gap Junction Proteins,Gap Junction Channel Proteins,Gap Junction Protein,Junction Protein, Gap,Junction Proteins, Gap

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