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 Congenital Abnormalities [C16.131] Congenital Abnormalities Skin Abnormalities [C16.131.831] Skin Abnormalities Acrodermatitis [C16.131.831.066] Acrodermatitis Carney Complex [C16.131.831.108] Carney Complex Dyskeratosis Congenita [C16.131.831.150] Dyskeratosis Congenita Ectodermal Dysplasia [C16.131.831.350] Ectodermal Dysplasia Ehlers-Danlos Syndrome [C16.131.831.428] Ehlers-Danlos Syndrome Epidermolysis Bullosa [C16.131.831.493] Epidermolysis Bullosa Ichthyosis [C16.131.831.512] Ichthyosis Incontinentia Pigmenti [C16.131.831.580] Incontinentia Pigmenti Port-Wine Stain [C16.131.831.675] Port-Wine Stain Prolidase Deficiency [C16.131.831.720] Prolidase Deficiency Pseudoxanthoma Elasticum [C16.131.831.766] Pseudoxanthoma Elasticum Rothmund-Thomson Syndrome [C16.131.831.775] Rothmund-Thomson Syndrome Sclerema Neonatorum [C16.131.831.812] Sclerema Neonatorum Trichothiodystrophy Syndromes [C16.131.831.874] Trichothiodystrophy Syndromes Xeroderma Pigmentosum [C16.131.831.936] Xeroderma Pigmentosum 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 Skin Abnormalities [C17.800.804] Skin Abnormalities Acrodermatitis [C17.800.804.066] Acrodermatitis Anetoderma [C17.800.804.108] Anetoderma Dyskeratosis Congenita [C17.800.804.150] Dyskeratosis Congenita Ectodermal Dysplasia [C17.800.804.350] Ectodermal Dysplasia Ehlers-Danlos Syndrome [C17.800.804.428] Ehlers-Danlos Syndrome Epidermolysis Bullosa [C17.800.804.493] Epidermolysis Bullosa Ichthyosis [C17.800.804.512] Ichthyosis Incontinentia Pigmenti [C17.800.804.580] Incontinentia Pigmenti Port-Wine Stain [C17.800.804.675] Port-Wine Stain Pseudoxanthoma Elasticum [C17.800.804.766] Pseudoxanthoma Elasticum Rothmund-Thomson Syndrome [C17.800.804.775] Rothmund-Thomson Syndrome Sclerema Neonatorum [C17.800.804.812] Sclerema Neonatorum Trichothiodystrophy Syndromes [C17.800.804.874] Trichothiodystrophy Syndromes Xeroderma Pigmentosum [C17.800.804.936] Xeroderma Pigmentosum 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

Trichothiodystrophy Syndromes - Preferred

Concept UI	M0505259
Scope note	Autosomal recessive neuroectodermal disorders characterized by brittle sulfur-deficient hair associated with impaired intellect, decreased fertility, and short stature. It may include nail dystrophy, ICHTHYOSIS, and photosensitivity correlated with a NUCLEOTIDE EXCISION REPAIR defect. All individuals with this disorder have a deficiency of cysteine-rich KERATIN-ASSOCIATED PROTEINS found in the interfilamentous matrix. Photosensitive trichothiodystrophy can be caused by mutation in at least 2 separate genes: ERCC2 PROTEIN gene and the related ERCC3. Nonphotosensitive trichothiodystrophy can be caused by mutation in the TTDN1 gene.
Preferred term	Trichothiodystrophy Syndromes
Entry term(s)	Trichothiodystrophies Trichothiodystrophy Trichothiodystrophy Syndrome

Trichothiodystrophy, Nonphotosensitive 1 - Narrower

Concept UI	M000618521
Preferred term	Trichothiodystrophy, Nonphotosensitive 1
Entry term(s)	Trichothiodystrophies, Nonphotosensitive 1

IBIDS Syndrome - Narrower

Concept UI	M0535686
Preferred term	IBIDS Syndrome
Entry term(s)	IBIDS Syndromes Ichthyosiform Erythroderma with Hair Abnormality and Mental and Growth Retardation Ichthyosis, Brittle Hair, Intellectual Impairment, Decreased Fertility, and Short Stature Tay Syndrome Trichothiodystrophy with Congenital Ichtyosis

Photosensitive Trichothiodystrophy - Narrower

Concept UI	M0505277
Preferred term	Photosensitive Trichothiodystrophy
Entry term(s)	PIBIDS Syndrome PIBIDS Syndromes Photosensitive Trichothiodystrophies Trichothiodystrophies, Photosensitive Trichothiodystrophy, Photosensitive

Amish Brittle Hair Brain Syndrome - Related but not broader or narrower

Concept UI	M0563336
Preferred term	Amish Brittle Hair Brain Syndrome
Entry term(s)	Amish Brittle Hair Syndrome BIDS Syndrome BIDS Syndromes Brittle Hair Intellectual Impairment Decreased Fertility Short Stature Syndrome Brittle Hair-Intellectual Impairment-Decreased Fertility-Short Stature Syndrome Hair Brain Syndrome Hair-Brain Syndrome Hair-Brain Syndromes