Disease Browser
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Parent Node: Cataract (D002386) | Parent Node: Dental Enamel Hypoplasia (D003744) | Parent Node: Hydrocephalus (D006849) | ..Starting node ..Enamel Hypoplasia, Cataracts, and Aqueductal Stenosis (C563430)
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Sister Nodes: | ..Aase Smith syndrome (C535332)
| ..Axenfeld-Rieger Anomaly with Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, and Skeletal Abnormalities (C566234)
| ..Baker Vinters syndrome (C537899)
| ..Beemer Ertbruggen syndrome (C537668)
| ..Bor-Duane hydrocephalus contiguous gene syndrome (C536574)
| ..Clark-Baraitser syndrome (C536208)
| ..Cole Carpenter syndrome (C535963)
| ..Cystic Kidney Disease with Ventriculomegaly (C565657)
| ..Daentl Towsend Siegel syndrome (C535768)
| ..Daish Hardman Lamont syndrome (C535770)
| ..Dandy-Walker Syndrome (D003616) 13
| ..Edinburgh Malformation Syndrome (C563051)
| ..Enamel Hypoplasia, Cataracts, and Aqueductal Stenosis (C563430)
| ..Game Friedman Paradice syndrome (C535406)
| ..Hydrocephalus With Cerebellar Agenesis (C564407)
| ..Hydrocephalus, Autosomal Dominant (C563973)
| ..Hydrocephalus, endocardial fibroelastosis, and cataracts (C535855)
| ..Hydrocephalus, Normal Pressure (D006850) 1
| ..Hydrocephalus, Skeletal Anomalies, and Mental Disturbance (C563413)
| ..Hydrocephalus, X-linked (C536078)
| ..Hydrocephalus, X-Linked, with Congenital Idiopathic Intestinal Pseudoobstruction (C564408)
| ..Hydrolethalus syndrome (C536079)
| ..Hydrolethalus Syndrome 1 (C565504)
| ..Iris dysplasia hypertelorism deafness (C535537)
| ..Kozlowski Brown Hardwick syndrome (C537506)
| ..Megalanecephaly Polymicrogyria-Polydactyly Hydrocephalus Syndrome (C566381)
| ..Osteochondrodysplasia, Rhizomelic, with Callosal Agenesis, Thrombocytopenia, Hydrocephalus, and Hypertension (C563478)
| ..Palmer Pagon syndrome (C538107)
| ..Radius absent anogenital anomalies (C535281)
| ..Schwartz Cohen-Addad Lambert syndrome (C535835)
| ..Thoracic Dysplasia-Hydrocephalus Syndrome (C564774)
| ..VACTERL Association With Hydrocephalus (C564751)
| ..VACTERL association with hydrocephaly, X-linked (C536520)
| ..VACTERL hydrocephaly (C536521)
| ..Vater Association With Hydrocephalus (C564752)
| ..Ventriculomegaly With Defects Of The Radius And Kidney (C566565)
| ..Waaler Aarskog syndrome (C536461)
| ..Yim Ebbin syndrome (C536713)
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Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD
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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 | | Disease Causing ClinVar Variants | |
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