Hearing Loss Disease Portal


 
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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
Parent Node:
expandHair Diseases (D006201)
Parent Node:
expandIchthyosis (D007057)
..Starting node
..expandTrichodysplasia-Xeroderma (C566032)

       Child Nodes:



 Sister Nodes: 
..expandAcquired ichthyosis (C538175)
..expandCamptodactyly-ichthyosis syndrome (C537976)
..expandCataract and congenital ichthyosis (C538281)
..expandDeal Barratt Dillon syndrome (C538206)
..expandDykes Markes Harper syndrome (C535727)
..expandErythrokeratoderma, Reticular (C563781)
..expandGrover's disease (C537306)
..expandHID Syndrome (C566528)
..expandIchthyosiform Erythroderma, Congenital (D016113) Child18
..expandIchthyosis Bullosa of Siemens (D053560)
..expandIchthyosis cheek eyebrow syndrome (C536084)
..expandIchthyosis Exfoliativa (C563978)
..expandIchthyosis follicularis atrichia photophobia syndrome (C536085)
..expandIchthyosis hystrix gravior (C536087)
..expandIchthyosis hystrix, Curth Macklin type (C536088)
..expandIchthyosis prematurity syndrome (C536271)
..expandIchthyosis tapered fingers midline groove up (C536272)
..expandIchthyosis Vulgaris (D016112) Child1
..expandIchthyosis with hypotrichosis, autosomal recessive (C536273) Child1
..expandICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6 (OMIM:612281)
..expandIchthyosis, Congenital, Autosomal Recessive, Ichthyin-Related (C567370)
..expandIchthyosis, Congenital, with Trichothiodystrophy (C566643)
..expandIchthyosis, Follicular Atrophoderma, Hypotrichosis, and Hypohidrosis (C566554) Child1
..expandIchthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis (C564365)
..expandIchthyosis, mental retardation, dwarfism, and renal impairment (C536274)
..expandIchthyosis, Nonlamellar and Nonerythrodermic, Congenital, Autosomal Recessive (C565749)
..expandIchthyosis, Split Hairs, and Amino Aciduria (C565471)
..expandIchthyosis, X-Linked (D016114) Child2
..expandIchthyosis, X-Linked, Complicated (C567443)
..expandIchthyosis-Mental Retardation Syndrome with Large Keratohyalin Granules in the Skin (C563402)
..expandJagell Holmgren Hofer syndrome (C537364)
..expandKeratitis, Ichthyosis, and Deafness (KID) Syndrome (C536168)
..expandKeratosis Follicularis Spinulosa Decalvans, X-Linked (C536159)
..expandKoone Rizzo Elias syndrome (C537023)
..expandNeu Laxova syndrome (C536405)
..expandOsteosclerosis with Ichthyosis and Fractures (C563483)
..expandRud Syndrome (C535878)
..expandRuzicka Goerz Anton syndrome (C537192)
..expandSammartino De Crecchio Syndrome (C537229)
..expandSjogren-Larsson Syndrome (D016111) Child1
..expandStormorken Syndrome (C566108)
..expandTrichodysplasia-Xeroderma (C566032)
..expandZunich neuroectodermal syndrome (C536729)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:11230
Name:Trichodysplasia-Xeroderma
Definition:
Alternative IDs:
ParentIDs:MESH:D006201|MESH:D007057
TreeNumbers:C16.131.831.512/C566032 |C16.614.492/C566032 |C17.800.329/C566032 |C17.800.428.333/C566032 |C17.800.804.512/C566032
Synonyms:
Slim Mappings:Congenital abnormality|Infant-newborn disease|Skin disease
Reference: MedGen: C566032
MeSH: C566032
OMIM: 190360;

Genes:
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0001596Alopecia
3 HP:0002299Brittle hair
4 HP:0002208Coarse hair
5 HP:0011359Dry hair
6 HP:0000958Dry skin
7 HP:0001006obsolete Hypotrichosis
8 HP:0003777Pili torti
9 HP:0002217Slow-growing hair
10 HP:0000535Sparse and thin eyebrow
11 HP:0002215Sparse axillary hair
12 HP:0000653Sparse eyelashes
13 HP:0002225Sparse pubic hair
14 HP:0002209Sparse scalp hair
15 HP:0002552Trichodysplasia
16 HP:0009886Trichorrhexis nodosa
Disease Causing ClinVar Variants