| Disease Browser
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Parent Node:
 Cerebellar Diseases (D002526) | Parent Node:
Kidney Diseases, Cystic (D052177) | Parent Node:
Retinal Degeneration (D012162) | ..Starting node
.. Joubert syndrome 4 (C536296)
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Child Nodes:
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Sister Nodes: | ..Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration (C565594)
| ..Enhanced S-Cone Syndrome (C564835)
| ..Hyaloideoretinal degeneration of Wagner (C536075)
| ..Joubert syndrome 4 (C536296)
| ..Late-Onset Retinal Degeneration (C565309)
| ..Lattice Degeneration of Retina Leading to Retinal Detachment (C563633)
| ..MacKay Shek Carr syndrome (C538364)
| ..Macular Degeneration (D008268)  28
| ..Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies (C566884)
| ..Noble Bass Sherman syndrome (C536124)
| ..Pigmented Paravenous Chorioretinal Atrophy (C566801)
| ..Retinal Cone Dystrophy 1 (C566719)
| ..Retinal Degeneration and Epilepsy (C564847)
| ..Retinal Degeneration, Autosomal Recessive, Clumped Pigment Type (C563527)
| ..Retinal Drusen (D015593) 2
| ..Retinal Dystrophies (D058499) 143
| ..Retinoschisis (D041441) 1
| ..Snowflake vitreoretinal degeneration (C536677)
| ..Spastic paraplegia 15, autosomal recessive (C536642)
| ..Sveinsson Chorioretinal Atrophy (C566236)
| ..Vitreoretinochoroidopathy (C536352)
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Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
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| Term ID: | 5984 |
| Name: | Joubert syndrome 4 |
| Definition: | |
| Alternative IDs: | OMIM:609583 |
| ParentIDs: | MESH:D002526|MESH:D012162|MESH:D052177 |
| TreeNumbers: | C10.228.140.252/C536296 |C11.768.585/C536296 |C12.777.419.403/C536296 |C13.351.968.419.403/C536296 |
| Synonyms: | JBTS4 |
| Slim Mappings: | Eye disease|Nervous system disease|Urogenital disease (female)|Urogenital disease (male) |
| Reference: |
MedGen: C536296
MeSH: C536296
OMIM: 609583;
Genes: NPHP1; | | Phenotypes | | | Disease Causing ClinVar Variants | |
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