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:
expandCataract (D002386)
Parent Node:
expandIchthyosis (D007057)
..Starting node
..expandCataract and congenital ichthyosis (C538281)

       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:1816
Name:Cataract and congenital ichthyosis
Definition:
Alternative IDs:
ParentIDs:MESH:D002386|MESH:D007057
TreeNumbers:C11.510.245/C538281 |C16.131.831.512/C538281 |C16.614.492/C538281 |C17.800.428.333/C538281 |C17.800.804.512/C538281
Synonyms:Syndromic cataract and congenital ichthyosis
Slim Mappings:Congenital abnormality|Eye disease|Infant-newborn disease|Skin disease
Reference: MedGen: C538281
MeSH: C538281
OMIM: 212400;

Genes:
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0000518Cataract
3 HP:0007431Congenital ichthyosiform erythroderma
Disease Causing ClinVar Variants