Biomaterial Database

[Nanism with retinitis pigmentosa & deafness; Cockayne syndrome]. 1958

J MARIE, and B LEVEQUE, and J C HESSE, and J BURI

UI	MeSH Term	Description	Entries
D008499	Medical Records	Recording of pertinent information concerning patient's illness or illnesses.	Health Diaries,Medical Transcription,Records, Medical,Transcription, Medical,Diaries, Health,Diary, Health,Health Diary,Medical Record,Medical Transcriptions,Record, Medical,Transcriptions, Medical
D003057	Cockayne Syndrome	A syndrome characterized by multiple system abnormalities including DWARFISM; PHOTOSENSITIVITY DISORDERS; PREMATURE AGING; and HEARING LOSS. It is caused by mutations of a number of autosomal recessive genes encoding proteins that involve transcriptional-coupled DNA REPAIR processes. Cockayne syndrome is classified by the severity and age of onset. Type I (classical; CSA) is early childhood onset in the second year of life; type II (congenital; CSB) is early onset at birth with severe symptoms; type III (xeroderma pigmentosum; XP) is late childhood onset with mild symptoms.	Progeria-Like Syndrome,Cockayne Syndrome Type 3,Cockayne Syndrome Type C,Cockayne Syndrome, Group A,Cockayne Syndrome, Group B,Cockayne Syndrome, Group C,Cockayne Syndrome, Type A,Cockayne Syndrome, Type B,Cockayne Syndrome, Type C,Cockayne Syndrome, Type I,Cockayne Syndrome, Type II,Cockayne Syndrome, Type III,Dwarfism-Retinal Atrophy-Deafness Syndrome,Group A Cockayne Syndrome,Group B Cockayne Syndrome,Group C Cockayne Syndrome,Progeroid Nanism,Type A Cockayne Syndrome,Type B Cockayne Syndrome,Type C Cockayne Syndrome,Type I Cockayne Syndrome,Type II Cockayne Syndrome,Type III Cockayne Syndrome,Progeria Like Syndrome,Progeria-Like Syndromes,Syndrome, Cockayne,Syndrome, Progeria-Like
D003638	Deafness	A general term for the complete loss of the ability to hear from both ears.	Deafness Permanent,Hearing Loss Permanent,Prelingual Deafness,Deaf Mutism,Deaf-Mutism,Deafness, Acquired,Hearing Loss, Complete,Hearing Loss, Extreme,Acquired Deafness,Complete Hearing Loss,Deafness, Prelingual,Extreme Hearing Loss,Permanent, Deafness,Permanent, Hearing Loss,Permanents, Deafness
D004392	Dwarfism	A genetic or pathological condition that is characterized by short stature and undersize. Abnormal skeletal growth usually results in an adult who is significantly below the average height.	Nanism
D006311	Hearing Disorders	Conditions that impair the transmission of auditory impulses and information from the level of the ear to the temporal cortices, including the sensorineural pathways.	Distorted Hearing,Dysacusis,Paracousis,Paracusis,Hearing Disorder,Hearing, Distorted
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D012174	Retinitis Pigmentosa	Hereditary, progressive degeneration of the retina due to death of ROD PHOTORECEPTORS initially and subsequent death of CONE PHOTORECEPTORS. It is characterized by deposition of pigment in the retina.	Pigmentary Retinopathy,Tapetoretinal Degeneration,Pigmentary Retinopathies,Retinopathies, Pigmentary,Retinopathy, Pigmentary,Tapetoretinal Degenerations
D034381	Hearing Loss	A general term for the complete or partial loss of the ability to hear from one or both ears.	Deafness, Transitory,Hearing Impairment,Hearing Loss, Transitory,Hypoacusis,Transitory Hearing Loss,Deafnesses, Transitory,Hypoacuses,Loss, Hearing,Loss, Transitory Hearing,Transitory Deafness,Transitory Deafnesses,Transitory Hearing Losses