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:
expandDental Enamel Hypoplasia (D003744)
Parent Node:
expandHydrocephalus (D006849)
..Starting node
..expandEnamel Hypoplasia, Cataracts, and Aqueductal Stenosis (C563430)

       Child Nodes:



 Sister Nodes: 
..expandAase Smith syndrome (C535332)
..expandAxenfeld-Rieger Anomaly with Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, and Skeletal Abnormalities (C566234)
..expandBaker Vinters syndrome (C537899)
..expandBeemer Ertbruggen syndrome (C537668)
..expandBor-Duane hydrocephalus contiguous gene syndrome (C536574)
..expandClark-Baraitser syndrome (C536208)
..expandCole Carpenter syndrome (C535963)
..expandCystic Kidney Disease with Ventriculomegaly (C565657)
..expandDaentl Towsend Siegel syndrome (C535768)
..expandDaish Hardman Lamont syndrome (C535770)
..expandDandy-Walker Syndrome (D003616) Child13
..expandEdinburgh Malformation Syndrome (C563051)
..expandEnamel Hypoplasia, Cataracts, and Aqueductal Stenosis (C563430)
..expandGame Friedman Paradice syndrome (C535406)
..expandHydrocephalus With Cerebellar Agenesis (C564407)
..expandHydrocephalus, Autosomal Dominant (C563973)
..expandHydrocephalus, endocardial fibroelastosis, and cataracts (C535855)
..expandHydrocephalus, Normal Pressure (D006850) Child1
..expandHydrocephalus, Skeletal Anomalies, and Mental Disturbance (C563413)
..expandHydrocephalus, X-linked (C536078)
..expandHydrocephalus, X-Linked, with Congenital Idiopathic Intestinal Pseudoobstruction (C564408)
..expandHydrolethalus syndrome (C536079)
..expandHydrolethalus Syndrome 1 (C565504)
..expandIris dysplasia hypertelorism deafness (C535537)
..expandKozlowski Brown Hardwick syndrome (C537506)
..expandMegalanecephaly Polymicrogyria-Polydactyly Hydrocephalus Syndrome (C566381)
..expandOsteochondrodysplasia, Rhizomelic, with Callosal Agenesis, Thrombocytopenia, Hydrocephalus, and Hypertension (C563478)
..expandPalmer Pagon syndrome (C538107)
..expandRadius absent anogenital anomalies (C535281)
..expandSchwartz Cohen-Addad Lambert syndrome (C535835)
..expandThoracic Dysplasia-Hydrocephalus Syndrome (C564774)
..expandVACTERL Association With Hydrocephalus (C564751)
..expandVACTERL association with hydrocephaly, X-linked (C536520)
..expandVACTERL hydrocephaly (C536521)
..expandVater Association With Hydrocephalus (C564752)
..expandVentriculomegaly With Defects Of The Radius And Kidney (C566565)
..expandWaaler Aarskog syndrome (C536461)
..expandYim Ebbin syndrome (C536713)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:3717
Name:Enamel Hypoplasia, Cataracts, and Aqueductal Stenosis
Definition:
Alternative IDs:
ParentIDs:MESH:D002386|MESH:D003744|MESH:D006849
TreeNumbers:C07.650.800.255/C563430 |C07.793.700.255/C563430 |C10.228.140.602/C563430 |C10.228.140.631.450/C563430 |C11.510.245/C563430 |C16.131.850.800.255/C563430
Synonyms:
Slim Mappings:Congenital abnormality|Eye disease|Mouth disease|Nervous system disease
Reference: MedGen: C563430
MeSH: C563430
OMIM: 600907;

Genes:
Phenotypes
1 HP:0002410Aqueductal stenosis
2 HP:0000678Dental crowding
3 HP:0006297Enamel hypoplasia
4 HP:0002315Headache
5 HP:0006358Shovel-shaped maxillary central incisors
6 HP:0003745Sporadic
7 HP:0000523Subcapsular cataract
8 HP:0002119Ventriculomegaly
Disease Causing ClinVar Variants