| Disease Browser
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Parent Node:
 Craniofacial Abnormalities (D019465) | Parent Node:
Elliptocytosis, Hereditary (D004612) | Parent Node:
Genetic Diseases, X-Linked (D040181) | Parent Node:
Intellectual Disability (D008607) | Parent Node:
Nephritis, Hereditary (D009394) | ..Starting node
.. Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis (C564570)
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Child Nodes:
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Sister Nodes: | ..Alport syndrome, dominant type (C536586)
| ..Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis (C564570)
| ..Alport syndrome, recessive type (C536587)
| ..ALPORT SYNDROME, X-LINKED (OMIM:301050)
| ..Alport Syndrome-Like Hereditary Nephritis (C562890)
| ..Daentl Towsend Siegel syndrome (C535768)
| ..Deafness nephritis ano rectal malformation (C535996)
| ..Leiomyomatosis, esophageal and vulval, with nephropathy (C537113)
| ..Nephropathy, Progressive, with Deafness (C563713)
| ..Renal Failure, Progressive, with Hypertension (C562889)
| ..Salcedo syndrome (C537228)
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Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
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| Term ID: | 481 |
| Name: | Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis |
| Definition: | |
| Alternative IDs: | OMIM:300194 |
| ParentIDs: | MESH:D004612|MESH:D008607|MESH:D009394|MESH:D019465|MESH:D040181 |
| TreeNumbers: | C05.660.207/C564570 |C10.597.606.643/C564570 |C12.706.742/C564570 |C12.777.419.570.620/C564570 |C13.351.875.742/C564570 |C13.351.968.419.570.620/C564570 |C15.378.071.141.150.365/C564570 |C16.131.621.207/C564570 |C16.131.939.742/C564570 |C16.320.070.365/C564570 |C1 |
| Synonyms: | ALPORT SYNDROME, MENTAL RETARDATION, MIDFACE HYPOPLASIA, AND ELLIPTOCYTOSIS |AMME Complex |ATS-MR |CHROMOSOME Xq22.3 TELOMERIC DELETION SYNDROME |
| Slim Mappings: | Blood disease|Congenital abnormality|Connective tissue disease|Genetic disease (inborn)|Mental disorder|Musculoskeletal disease|Nervous system disease|Signs and symptoms|Urogenital disease (female)|Urogenital disease (male) |
| Reference: |
MedGen: C564570
MeSH: C564570
OMIM: 300194;
Genes: AF8T; | | Phenotypes | | | Disease Causing ClinVar Variants | |
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