Phenotypes for disease #01904 (MDM (Meleda disease), OMIM:248300)

37 entries on 1 page. Showing entries 1 - 37.
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AscendingPhenotype ID     
Phenotype details     
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Age/Diagnosis     
Age/Onset     
Phenotype/Onset     
Protein     
Owner     
Individual ID     
0000279444 keratotic skin lesions (joints), perioral erythema, brachydactyly, nail abnormalities, hyperhidrosis, superinfection causing malodorous maceration Mal de Meleda - Familial, autosomal recessive - - - - - Johan den Dunnen 00385649
0000279445 keratotic skin lesions (joints), perioral erythema, brachydactyly, nail abnormalities, hyperhidrosis, superinfection causing malodorous maceration Mal de Meleda - Familial, autosomal recessive - - - - - Johan den Dunnen 00385650
0000279446 keratotic skin lesions (joints), perioral erythema, brachydactyly, nail abnormalities, hyperhidrosis, superinfection causing malodorous maceration Mal de Meleda - Familial, autosomal recessive - - - - - Johan den Dunnen 00385651
0000279447 keratotic skin lesions (joints), perioral erythema, brachydactyly, nail abnormalities, hyperhidrosis, superinfection causing malodorous maceration Mal de Meleda - Familial, autosomal recessive - - - - - Johan den Dunnen 00385652
0000279448 keratotic skin lesions (joints), perioral erythema, brachydactyly, nail abnormalities, hyperhidrosis, superinfection causing malodorous maceration Mal de Meleda - Familial, autosomal recessive - - - - - Johan den Dunnen 00385653
0000279449 keratotic skin lesions (joints), perioral erythema, brachydactyly, nail abnormalities, hyperhidrosis, superinfection causing malodorous maceration Mal de Meleda - Familial, autosomal recessive - - - - - Johan den Dunnen 00385654
0000279450 skin lesions lesions inguinal area body Mal de Meleda - Familial, autosomal recessive - - - - - Johan den Dunnen 00385655
0000279451 keratotic skin lesions (joints), perioral erythema, brachydactyly, nail abnormalities, hyperhidrosis, superinfection causing malodorous maceration Mal de Meleda - Familial, autosomal recessive - - - - - Johan den Dunnen 00385656
0000279452 keratotic skin lesions (joints), perioral erythema, brachydactyly, nail abnormalities, hyperhidrosis, superinfection causing malodorous maceration Mal de Meleda - Familial, autosomal recessive - - - - - Johan den Dunnen 00385657
0000279453 skin lesions lesions inguinal area body Mal de Meleda - Familial, autosomal recessive - - - - - Johan den Dunnen 00385658
0000279454 keratotic skin lesions (joints), perioral erythema, brachydactyly, nail abnormalities, hyperhidrosis, superinfection causing malodorous maceration Mal de Meleda - Familial, autosomal recessive - - - - - Johan den Dunnen 00385659
0000279455 keratotic skin lesions (joints), perioral erythema, brachydactyly, nail abnormalities, hyperhidrosis, superinfection causing malodorous maceration Mal de Meleda - Familial, autosomal recessive - - - - - Johan den Dunnen 00385660
0000279456 keratotic skin lesions (joints), perioral erythema, brachydactyly, nail abnormalities, hyperhidrosis, superinfection causing malodorous maceration Mal de Meleda - Familial, autosomal recessive - - - - - Johan den Dunnen 00385661
0000279457 keratotic skin lesions (joints), perioral erythema, brachydactyly, nail abnormalities, hyperhidrosis, superinfection causing malodorous maceration Mal de Meleda - Familial, autosomal recessive - - - - - Johan den Dunnen 00385662
0000279458 keratotic skin lesions (joints), perioral erythema, brachydactyly, nail abnormalities, hyperhidrosis, superinfection causing malodorous maceration Mal de Meleda - Familial, autosomal recessive - - - - - Johan den Dunnen 00385663
0000279459 keratotic skin lesions (joints), perioral erythema, brachydactyly, nail abnormalities, hyperhidrosis, superinfection causing malodorous maceration Mal de Meleda - Familial, autosomal recessive - - - - - Johan den Dunnen 00385664
0000279460 keratotic skin lesions (joints), perioral erythema, brachydactyly, nail abnormalities, hyperhidrosis, superinfection causing malodorous maceration Mal de Meleda - Familial, autosomal recessive - - - - - Johan den Dunnen 00385665
0000279461 keratotic skin lesions (joints), perioral erythema, brachydactyly, nail abnormalities, hyperhidrosis, superinfection causing malodorous maceration Mal de Meleda - Familial, autosomal recessive - - - - - Johan den Dunnen 00385666
0000279462 keratotic skin lesions (joints), perioral erythema, brachydactyly, nail abnormalities, hyperhidrosis, superinfection causing malodorous maceration Mal de Meleda - Familial, autosomal recessive - - - - - Johan den Dunnen 00385667
0000279463 see paper; ..., diffuse palmoplantar keratodermas appearing shortly after birth (3–10m); <2y-transgressive pachyderma, hyperhidrosis palms and soles; transgressive hyperkeratosis progressed resulting in characteristic ‘glove and stocking’ distribution; nNail dystrophy with subungual hyperkeratosis, slight contractures fingers, conical distal phalanges Mal de Meleda - Familial, autosomal recessive - - - - - Johan den Dunnen 00385668
0000279464 see paper; ..., diffuse palmoplantar keratodermas appearing shortly after birth (3–10m); <2y-transgressive pachyderma, hyperhidrosis palms and soles; transgressive hyperkeratosis progressed resulting in characteristic ‘glove and stocking’ distribution; nNail dystrophy with subungual hyperkeratosis, slight contractures fingers, conical distal phalanges Mal de Meleda - Familial, autosomal recessive - - - - - Johan den Dunnen 00385669
0000279465 see paper; ..., diffuse palmoplantar keratodermas appearing shortly after birth (3–10m); <2y-transgressive pachyderma, hyperhidrosis palms and soles; transgressive hyperkeratosis progressed resulting in characteristic ‘glove and stocking’ distribution; nNail dystrophy with subungual hyperkeratosis, slight contractures fingers, conical distal phalanges Mal de Meleda - Familial, autosomal recessive - - - - - Johan den Dunnen 00385670
0000279466 see paper; ..., diffuse palmoplantar keratodermas appearing shortly after birth (3–10m); <2y-transgressive pachyderma, hyperhidrosis palms and soles; transgressive hyperkeratosis progressed resulting in characteristic ‘glove and stocking’ distribution; nNail dystrophy with subungual hyperkeratosis, slight contractures fingers, conical distal phalanges Mal de Meleda - Familial, autosomal recessive - - - - - Johan den Dunnen 00385671
0000279467 see paper; ..., diffuse palmoplantar keratodermas appearing shortly after birth (3–10m); <2y-transgressive pachyderma, hyperhidrosis palms and soles; transgressive hyperkeratosis progressed resulting in characteristic ‘glove and stocking’ distribution; nNail dystrophy with subungual hyperkeratosis, slight contractures fingers, conical distal phalanges Mal de Meleda - Familial, autosomal recessive - - - - - Johan den Dunnen 00385672
0000279468 see paper; ..., diffuse palmoplantar keratodermas appearing shortly after birth (3–10m); <2y-transgressive pachyderma, hyperhidrosis palms and soles; transgressive hyperkeratosis progressed resulting in characteristic ‘glove and stocking’ distribution; nNail dystrophy with subungual hyperkeratosis, slight contractures fingers, conical distal phalanges Mal de Meleda - Familial, autosomal recessive - - - - - Johan den Dunnen 00385673
0000279469 see paper; ..., diffuse palmoplantar keratodermas appearing shortly after birth (3–10m); <2y-transgressive pachyderma, hyperhidrosis palms and soles; transgressive hyperkeratosis progressed resulting in characteristic ‘glove and stocking’ distribution; nNail dystrophy with subungual hyperkeratosis, slight contractures fingers, conical distal phalanges Mal de Meleda - Familial, autosomal recessive - - - - - Johan den Dunnen 00385674
0000279470 see paper; ..., diffuse palmoplantar keratodermas appearing shortly after birth (3–10m); <2y-transgressive pachyderma, hyperhidrosis palms and soles; transgressive hyperkeratosis progressed resulting in characteristic ‘glove and stocking’ distribution; nNail dystrophy with subungual hyperkeratosis, slight contractures fingers, conical distal phalanges Mal de Meleda - Familial, autosomal recessive - - - - - Johan den Dunnen 00385675
0000279471 see paper; ... Mal de Meleda - Familial, autosomal recessive - - - - - Johan den Dunnen 00385676
0000279472 see paper; ... Mal de Meleda - Familial, autosomal recessive - - - - - Johan den Dunnen 00385677
0000279473 see paper; ... Mal de Meleda - Familial, autosomal recessive - - - - - Johan den Dunnen 00385678
0000279474 see paper; ... Mal de Meleda - Familial, autosomal recessive - - - - - Johan den Dunnen 00385679
0000279475 see paper; ... Mal de Meleda - Familial, autosomal recessive - - - - - Johan den Dunnen 00385680
0000279476 see paper; ... Mal de Meleda - Familial, autosomal recessive - - - - - Johan den Dunnen 00385681
0000279477 see paper; ... Mal de Meleda - Familial, autosomal recessive - - - - - Johan den Dunnen 00385682
0000279478 see paper; ... Mal de Meleda - Familial, autosomal recessive - - - - - Johan den Dunnen 00385683
0000279483 see paper Mal de Meleda - Familial, autosomal recessive - - - - - Johan den Dunnen 00385688
0000279485 see paper; ... Mal de Meleda - Familial, autosomal recessive - - - - - Johan den Dunnen 00385690
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