DISEASES Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormalities [C16.131] Congenital Abnormalities Abnormalities, Multiple [C16.131.077] Abnormalities, Multiple 22q11 Deletion Syndrome [C16.131.077.019] 22q11 Deletion Syndrome Alagille Syndrome [C16.131.077.065] Alagille Syndrome Angelman Syndrome [C16.131.077.095] Angelman Syndrome Barth Syndrome [C16.131.077.121] Barth Syndrome Basal Cell Nevus Syndrome [C16.131.077.130] Basal Cell Nevus Syndrome Beckwith-Wiedemann Syndrome [C16.131.077.133] Beckwith-Wiedemann Syndrome Bloom Syndrome [C16.131.077.137] Bloom Syndrome Branchio-Oto-Renal Syndrome [C16.131.077.208] Branchio-Oto-Renal Syndrome Carney Complex [C16.131.077.229] Carney Complex Ciliopathies [C16.131.077.245] Ciliopathies Cockayne Syndrome [C16.131.077.250] Cockayne Syndrome Costello Syndrome [C16.131.077.256] Costello Syndrome Cri-du-Chat Syndrome [C16.131.077.262] Cri-du-Chat Syndrome De Lange Syndrome [C16.131.077.272] De Lange Syndrome Deaf-Blind Disorders [C16.131.077.299] Deaf-Blind Disorders Donohue Syndrome [C16.131.077.313] Donohue Syndrome Down Syndrome [C16.131.077.327] Down Syndrome Ectodermal Dysplasia [C16.131.077.350] Ectodermal Dysplasia Fraser Syndrome [C16.131.077.371] Fraser Syndrome Gardner Syndrome [C16.131.077.393] Gardner Syndrome Heterotaxy Syndrome [C16.131.077.401] Heterotaxy Syndrome Holoprosencephaly [C16.131.077.410] Holoprosencephaly Incontinentia Pigmenti [C16.131.077.445] Incontinentia Pigmenti Isolated Noncompaction of the Ventricular Myocardium [C16.131.077.477] Isolated Noncompaction of the Ventricular Myocardium Laurence-Moon Syndrome [C16.131.077.509] Laurence-Moon Syndrome LEOPARD Syndrome [C16.131.077.525] LEOPARD Syndrome Loeys-Dietz Syndrome [C16.131.077.537] Loeys-Dietz Syndrome Marfan Syndrome [C16.131.077.550] Marfan Syndrome Mobius Syndrome [C16.131.077.578] Mobius Syndrome Monilethrix [C16.131.077.592] Monilethrix Nail-Patella Syndrome [C16.131.077.606] Nail-Patella Syndrome Netherton Syndrome [C16.131.077.619] Netherton Syndrome Nevus, Sebaceous of Jadassohn [C16.131.077.633] Nevus, Sebaceous of Jadassohn Oculocerebrorenal Syndrome [C16.131.077.662] Oculocerebrorenal Syndrome Orofaciodigital Syndromes [C16.131.077.676] Orofaciodigital Syndromes Pallister-Hall Syndrome [C16.131.077.690] Pallister-Hall Syndrome Pentalogy of Cantrell [C16.131.077.696] Pentalogy of Cantrell POEMS Syndrome [C16.131.077.703] POEMS Syndrome Polycystic Kidney Diseases [C16.131.077.717] Polycystic Kidney Diseases Prader-Willi Syndrome [C16.131.077.730] Prader-Willi Syndrome Prolidase Deficiency [C16.131.077.735] Prolidase Deficiency Proteus Syndrome [C16.131.077.740] Proteus Syndrome Prune Belly Syndrome [C16.131.077.745] Prune Belly Syndrome Rubella Syndrome, Congenital [C16.131.077.790] Rubella Syndrome, Congenital Rubinstein-Taybi Syndrome [C16.131.077.804] Rubinstein-Taybi Syndrome Short Rib-Polydactyly Syndrome [C16.131.077.850] Short Rib-Polydactyly Syndrome Silver-Russell Syndrome [C16.131.077.855] Silver-Russell Syndrome Smith-Lemli-Opitz Syndrome [C16.131.077.860] Smith-Lemli-Opitz Syndrome Smith-Magenis Syndrome [C16.131.077.879] Smith-Magenis Syndrome Sotos Syndrome [C16.131.077.889] Sotos Syndrome Trichothiodystrophy Syndromes [C16.131.077.899] Trichothiodystrophy Syndromes Trisomy 13 Syndrome [C16.131.077.919] Trisomy 13 Syndrome Trisomy 18 Syndrome [C16.131.077.929] Trisomy 18 Syndrome Waardenburg Syndrome [C16.131.077.938] Waardenburg Syndrome Weill-Marchesani Syndrome [C16.131.077.941] Weill-Marchesani Syndrome Wolf-Hirschhorn Syndrome [C16.131.077.944] Wolf-Hirschhorn Syndrome Zellweger Syndrome [C16.131.077.970] Zellweger Syndrome DISEASES Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn [C16.320] Genetic Diseases, Inborn Skin Diseases, Genetic [C16.320.850] Skin Diseases, Genetic Albinism [C16.320.850.080] Albinism Cutis Laxa [C16.320.850.180] Cutis Laxa Darier Disease [C16.320.850.190] Darier Disease Dermatitis, Atopic [C16.320.850.210] Dermatitis, Atopic Dyskeratosis Congenita [C16.320.850.235] Dyskeratosis Congenita Ectodermal Dysplasia [C16.320.850.250] Ectodermal Dysplasia Ehlers-Danlos Syndrome [C16.320.850.260] Ehlers-Danlos Syndrome Epidermolysis Bullosa [C16.320.850.275] Epidermolysis Bullosa Erythrokeratodermia Variabilis [C16.320.850.337] Erythrokeratodermia Variabilis Hyaline Fibromatosis Syndrome [C16.320.850.368] Hyaline Fibromatosis Syndrome Ichthyosiform Erythroderma, Congenital [C16.320.850.400] Ichthyosiform Erythroderma, Congenital Ichthyosis Bullosa of Siemens [C16.320.850.402] Ichthyosis Bullosa of Siemens Ichthyosis Vulgaris [C16.320.850.405] Ichthyosis Vulgaris Ichthyosis, X-Linked [C16.320.850.408] Ichthyosis, X-Linked Incontinentia Pigmenti [C16.320.850.420] Incontinentia Pigmenti Keratoderma, Palmoplantar [C16.320.850.475] Keratoderma, Palmoplantar Leukokeratosis, Hereditary Mucosal [C16.320.850.542] Leukokeratosis, Hereditary Mucosal Lipoid Proteinosis of Urbach and Wiethe [C16.320.850.595] Lipoid Proteinosis of Urbach and Wiethe Monilethrix [C16.320.850.647] Monilethrix Netherton Syndrome [C16.320.850.673] Netherton Syndrome Pemphigus, Benign Familial [C16.320.850.700] Pemphigus, Benign Familial Porokeratosis [C16.320.850.730] Porokeratosis Porphyria, Erythropoietic [C16.320.850.738] Porphyria, Erythropoietic Porphyrias, Hepatic [C16.320.850.742] Porphyrias, Hepatic Prolidase Deficiency [C16.320.850.746] Prolidase Deficiency Pseudoxanthoma Elasticum [C16.320.850.750] Pseudoxanthoma Elasticum Rothmund-Thomson Syndrome [C16.320.850.765] Rothmund-Thomson Syndrome Sjogren-Larsson Syndrome [C16.320.850.820] Sjogren-Larsson Syndrome Trichothiodystrophy Syndromes [C16.320.850.895] Trichothiodystrophy Syndromes Xeroderma Pigmentosum [C16.320.850.970] Xeroderma Pigmentosum DISEASES Skin and Connective Tissue Diseases [C17] Skin and Connective Tissue Diseases Skin Diseases [C17.800] Skin Diseases Hair Diseases [C17.800.329] Hair Diseases Folliculitis [C17.800.329.500] Folliculitis Hirsutism [C17.800.329.750] Hirsutism Hypertrichosis [C17.800.329.875] Hypertrichosis Hypotrichosis [C17.800.329.937] Hypotrichosis Menkes Kinky Hair Syndrome [C17.800.329.968] Menkes Kinky Hair Syndrome Monilethrix [C17.800.329.984] Monilethrix Piedra [C17.800.329.992] Piedra DISEASES Skin and Connective Tissue Diseases [C17] Skin and Connective Tissue Diseases Skin Diseases [C17.800] Skin Diseases Skin Diseases, Genetic [C17.800.827] Skin Diseases, Genetic Albinism [C17.800.827.080] Albinism Cutis Laxa [C17.800.827.180] Cutis Laxa Darier Disease [C17.800.827.190] Darier Disease Dermatitis, Atopic [C17.800.827.210] Dermatitis, Atopic Dyskeratosis Congenita [C17.800.827.235] Dyskeratosis Congenita Ectodermal Dysplasia [C17.800.827.250] Ectodermal Dysplasia Ehlers-Danlos Syndrome [C17.800.827.260] Ehlers-Danlos Syndrome Epidermolysis Bullosa [C17.800.827.275] Epidermolysis Bullosa Erythrokeratodermia Variabilis [C17.800.827.337] Erythrokeratodermia Variabilis Hereditary Autoinflammatory Diseases [C17.800.827.368] Hereditary Autoinflammatory Diseases Hyaline Fibromatosis Syndrome [C17.800.827.384] Hyaline Fibromatosis Syndrome Ichthyosiform Erythroderma, Congenital [C17.800.827.400] Ichthyosiform Erythroderma, Congenital Ichthyosis Bullosa of Siemens [C17.800.827.403] Ichthyosis Bullosa of Siemens Ichthyosis Vulgaris [C17.800.827.405] Ichthyosis Vulgaris Ichthyosis, X-Linked [C17.800.827.408] Ichthyosis, X-Linked Incontinentia Pigmenti [C17.800.827.420] Incontinentia Pigmenti Keratoderma, Palmoplantar [C17.800.827.475] Keratoderma, Palmoplantar Leukokeratosis, Hereditary Mucosal [C17.800.827.595] Leukokeratosis, Hereditary Mucosal Monilethrix [C17.800.827.602] Monilethrix Muir-Torre Syndrome [C17.800.827.610] Muir-Torre Syndrome Netherton Syndrome [C17.800.827.655] Netherton Syndrome Pemphigus, Benign Familial [C17.800.827.700] Pemphigus, Benign Familial Porokeratosis [C17.800.827.730] Porokeratosis Porphyria, Erythropoietic [C17.800.827.738] Porphyria, Erythropoietic Porphyrias, Hepatic [C17.800.827.742] Porphyrias, Hepatic Pseudoxanthoma Elasticum [C17.800.827.750] Pseudoxanthoma Elasticum Rothmund-Thomson Syndrome [C17.800.827.775] Rothmund-Thomson Syndrome Sjogren-Larsson Syndrome [C17.800.827.820] Sjogren-Larsson Syndrome Trichothiodystrophy Syndromes [C17.800.827.895] Trichothiodystrophy Syndromes Xeroderma Pigmentosum [C17.800.827.970] Xeroderma Pigmentosum

Monilethrix - Conceito preferido

Identificador do conceito	M0528912
Nota de escopo	Rare autosomal dominant disorder of the hair shaft. The clinical features of the disease include HYPOTRICHOSIS, dry, and/or brittle hair, with varying degrees of ALOPECIA. Mutations in the hair-specific keratin genes KRTHB1, KRTHB3, or KRTHB6 are associated with monilethrix. Autosomal recessive monilethrix with limited HYPOTRICHOSIS are also known. Mutations in Dsg4, Liph, and P2ry5 protein genes are associated with the recessive form of monilethrix.
Termo preferido	Monilethrix
Termo(s) alternativo(s)	Hair, Nodose Hairs, Nodose Monilethrices Nodose Hair Nodose Hairs