| Disease Browser
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Parent Node:
 Coloboma (D003103) | Parent Node:
Hearing Loss, Mixed Conductive-Sensorineural (D046089) | Parent Node:
Hypertelorism (D006972) | Parent Node:
Hypospadias (D007021) | ..Starting node
.. Hypospadias, Hypertelorism, Upper Lid Coloboma, and Mixed-Type Hearing Loss (C566373)
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Child Nodes:
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Sister Nodes: | ..Anal Atresia, Hypospadias, and Penoscrotal Inversion (C566526)
| ..Hypertelorism with esophageal abnormality and hypospadias (C538387)
| ..Hypospadias 1, X-Linked (C567482)
| ..Hypospadias 2, X-Linked (C567462)
| ..Hypospadias 3, Autosomal (C567191)
| ..HYPOSPADIAS 4, X-LINKED, SUSCEPTIBILITY TO (OMIM:300856)
| ..Hypospadias, Hypertelorism, Upper Lid Coloboma, and Mixed-Type Hearing Loss (C566373)
| ..Hypospadias-Mental Retardation Syndrome (C563067)
| ..Naguib-Richieri-Costa syndrome (C538332)
| ..Opitz GBBB Syndrome, X-Linked (C567932)
| ..Preaxial deficiency, postaxial polydactyly and hypospadias (C538278)
| ..Pseudovaginal Perineoscrotal Hypospadias (C535830)
| ..Radial hypoplasia, triphalangeal thumbs and hypospadias (C536262)
| ..Radius absent anogenital anomalies (C535281)
| ..Scalp ear nipple syndrome (C536623)
| ..Schilbach-Rott Syndrome Ocular Hypotelorism, Submucosal Cleft Palate, and Hypospadias (C563509)
| ..Stratton-Parker Syndrome (C566105)
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Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
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| Term ID: | 5627 |
| Name: | Hypospadias, Hypertelorism, Upper Lid Coloboma, and Mixed-Type Hearing Loss |
| Definition: | |
| Alternative IDs: | |
| ParentIDs: | MESH:D003103|MESH:D006972|MESH:D007021|MESH:D046089 |
| TreeNumbers: | C05.116.099.370.231.480/C566373 |C05.660.207.231.480/C566373 |C09.218.458.341.849/C566373 |C10.597.751.418.341.849/C566373 |C11.250.110/C566373 |C12.294.494.400/C566373 |C12.706.516/C566373 |C13.351.875.466/C566373 |C16.131.384.282/C566373 |C16.131.621.207.231.48 |
| Synonyms: | |
| Slim Mappings: | Congenital abnormality|Ear-nose-throat disease|Eye disease|Musculoskeletal disease|Nervous system disease|Signs and symptoms|Urogenital disease (female)|Urogenital disease (male) |
| Reference: |
MedGen: C566373
MeSH: C566373
OMIM: 603463;
Genes: | | Phenotypes | | | Disease Causing ClinVar Variants | |
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