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HJMD [1 record]
Record 1 - internal organization data 2025-08-26
Record 1, English
Record 1, Subject field(s)
- Human Diseases - Various
- Skin Appendages
- Visual Disorders
Record 1, Main entry term, English
- hypotrichosis with juvenile macular dystrophy
1, record 1, English, hypotrichosis%20with%20juvenile%20macular%20dystrophy
correct, noun
Record 1, Abbreviations, English
- HJMD 1, record 1, English, HJMD
correct, noun
Record 1, Synonyms, English
- congenital hypotrichosis with juvenile macular dystrophy 2, record 1, English, congenital%20hypotrichosis%20with%20juvenile%20macular%20dystrophy
correct, noun
- hypotrichosis with cone-rod dystrophy 3, record 1, English, hypotrichosis%20with%20cone%2Drod%20dystrophy
noun
Record 1, Textual support, English
Record number: 1, Textual support number: 1 CONT
Hypotrichosis with juvenile macular dystrophy is a rare autosomal recessive disease, characterized by hypotrichosis and progressive macular degeneration, leading to blindness in the first three decades of life. It is associated with mutations in the cadherin 3 gene, resulting in the abnormal expression of P-cadherin. 4, record 1, English, - hypotrichosis%20with%20juvenile%20macular%20dystrophy
Record 1, French
Record 1, Domaine(s)
- Maladies humaines diverses
- Phanères
- Troubles de la vision
Record 1, Main entry term, French
- hypotrichose congénitale avec dystrophie maculaire juvénile
1, record 1, French, hypotrichose%20cong%C3%A9nitale%20avec%20dystrophie%20maculaire%20juv%C3%A9nile
correct, feminine noun
Record 1, Abbreviations, French
- HDMJ 1, record 1, French, HDMJ
feminine noun
Record 1, Synonyms, French
- hypotrichose avec dégénérescence maculaire juvénile 2, record 1, French, hypotrichose%20avec%20d%C3%A9g%C3%A9n%C3%A9rescence%20maculaire%20juv%C3%A9nile
feminine noun
Record 1, Textual support, French
Record number: 1, Textual support number: 1 CONT
L'hypotrichose congénitale avec dystrophie maculaire juvénile [...] est une affection rare de transmission autosomique récessive, caractérisée par l'association de cheveux courts et épars dès les premiers mois de vie et d'une dystrophie maculaire progressive aboutissant à la cécité entre les 2e et 4e [décennies]. 1, record 1, French, - hypotrichose%20cong%C3%A9nitale%20avec%20dystrophie%20maculaire%20juv%C3%A9nile
Record number: 1, Textual support number: 1 OBS
[L'hypotrichose congénitale avec dystrophie maculaire juvénile] est liée à une mutation sur le gène CDH3 codant la P-cadhérine, glycoprotéine essentielle de l'adhésion cellulaire. 1, record 1, French, - hypotrichose%20cong%C3%A9nitale%20avec%20dystrophie%20maculaire%20juv%C3%A9nile
Record 1, Spanish
Record 1, Textual support, Spanish
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