| Disease Browser
|
Parent Node:
 Blepharophimosis (D016569) | Parent Node:
Growth Disorders (D006130) | Parent Node:
Microcephaly (D008831) | Parent Node:
Prognathism (D011378) | Parent Node:
Synostosis (D013580) | ..Starting node
.. Jorgenson Lenz syndrome (C536292)
|
Child Nodes:
|
Sister Nodes: | ..Antley-Bixler Syndrome Phenotype (D054882)  2
| ..Banki Syndrome (C566228)
| ..Coronal synostosis, syndactyly and jejunal atresia (C536445)
| ..Craniosynostoses (D003398) 64
| ..Der Kaloustian Mcintosh Silver syndrome (C538217)
| ..Humeroradial Multiple Synostosis Syndrome (C565509)
| ..Humeroradial Synostosis with Craniofacial Anomalies (C566888)
| ..Jorgenson Lenz syndrome (C536292)
| ..Mesomelia-synostoses syndrome (C537348)
| ..MULTIPLE SYNOSTOSES SYNDROME 1 (OMIM:186500)
| ..Multiple synostoses syndrome 2 (C537380)
| ..Multiple Synostoses Syndrome 3 (C567839)
| ..NOG-Related-Symphalangism Spectrum Disorder (C536943)
| ..Patella aplasia, coxa vara, tarsal synostosis (C536307)
| ..Prata Libéral Gonçalves syndrome (C538277)
| ..Radioulnar Synostosis (C562408)
| ..Radioulnar synostosis retinal pigment abnormalities (C536270)
| ..Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia (C565328)
| ..Radioulnar Synostosis, Radial Ray Abnormalities, and Severe Malformations in the Male (C564557)
| ..Radioulnar Synostosis, Unilateral, with Developmental Retardation and Hypotonia (C564856)
| ..Ramer Ladda syndrome (C535284)
| ..Spondylocarpotarsal synostosis (C535780)
| ..Symphalangism of Toes (C566101)
| ..Symphalangism with Multiple Anomalies of Hands and Feet (C566098)
| ..Syndactyly (D013576) 69
| ..Synostoses, tarsal, carpal, and digital (C538156)
| ..Synostosis of Talus and Calcaneus with Short Stature (C566089)
| ..Synostosis, Carpal, with Dysplastic Elbow Joints and Brachydactyly (C566090)
| ..Tsukahara Syndrome (C566376)
|
Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
|
|
|
| Term ID: | 5979 |
| Name: | Jorgenson Lenz syndrome |
| Definition: | |
| Alternative IDs: | |
| ParentIDs: | MESH:D006130|MESH:D008831|MESH:D011378|MESH:D013580|MESH:D016569 |
| TreeNumbers: | C05.116.099.370.894/C536292 |C05.500.460.655/C536292 |C05.500.607.655/C536292 |C05.660.207.540.460.655/C536292 |C05.660.207.620/C536292 |C05.660.906/C536292 |C07.320.440.655/C536292 |C07.320.610.655/C536292 |C07.650.500.460.655/C536292 |C10.500.507.400.500/C53629 |
| Synonyms: | Blepharophimosis radioulnar synostosis |Mild short stature, microcephaly, ptosis-blepharophimosis, facial asymmetry, and radioulnar synostosis |Ptosis, prognathism, microcephaly, radio-ulnar synostosis, short stature/dwarfism |
| Slim Mappings: | Congenital abnormality|Eye disease|Mouth disease|Musculoskeletal disease|Nervous system disease|Pathology (process) |
| Reference: |
MedGen: C536292
MeSH: C536292
OMIM:
Genes: | | Phenotypes | | | Disease Causing ClinVar Variants | |
|
