loading...| Preferred Name |
Trichothiodystrophy |
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| Synonyms |
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| Definitions |
A rare, genetic, syndromic hair shaft abnormality disorder characterized by short, dry, sulfur-deficient, brittle hair usually associated with highly variable neuroectodermal manifestations, such as ichthyosis, photosensitivity, and intellectual disability. |
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| ID |
http://www.orpha.net/ORDO/Orphanet_33364 |
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| definition |
A rare, genetic, syndromic hair shaft abnormality disorder characterized by short, dry, sulfur-deficient, brittle hair usually associated with highly variable neuroectodermal manifestations, such as ichthyosis, photosensitivity, and intellectual disability. |
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| definition_citation |
Orphanet |
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| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33364 |
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| has_age_of_onset |
Infancy Neonatal |
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| has_inheritance |
Autosomal recessive X-linked recessive |
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| hasDbXref |
OMIM:234050 OMIM:616390 OMIM:616395 MeSH:D054463 ICD-11:EC21.1 UMLS:C1955934 ICD-10:L67.8 OMIM:618546 OMIM:300953 MedDRA:10044628 OMIM:619692 OMIM:619691 OMIM:601675 OMIM:616943 |
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| label |
Trichothiodystrophy |
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| notation |
ORPHA:33364 |
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| part_of |
http://www.orpha.net/ORDO/Orphanet_281222 http://www.orpha.net/ORDO/Orphanet_399771 http://www.orpha.net/ORDO/Orphanet_522548 http://www.orpha.net/ORDO/Orphanet_611314 http://www.orpha.net/ORDO/Orphanet_79373 |
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| prefixIRI |
ORDO:Orphanet_33364 |
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| prefLabel |
Trichothiodystrophy |
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| present_in |
Europe AND has_birth_prevalence_average_value : 0.12 AND has_birth_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_cases/families_value : 201.0 (Case) Worldwide AND has_point_prevalence_range : Unknown |
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| treeView |
http://www.orpha.net/ORDO/Orphanet_281222 http://www.orpha.net/ORDO/Orphanet_399771 http://www.orpha.net/ORDO/Orphanet_522548 http://www.orpha.net/ORDO/Orphanet_611314 http://www.orpha.net/ORDO/Orphanet_79373 |
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| subClassOf |