| Disease Browser
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Parent Node:
 Abnormalities, Multiple (D000015) | Parent Node:
Cleft Palate (D002972) | Parent Node:
Craniosynostoses (D003398) | Parent Node:
Diaphragmatic Eventration (D003965) | Parent Node:
Glaucoma (D005901) | Parent Node:
Growth Disorders (D006130) | Parent Node:
Heart Defects, Congenital (D006330) | Parent Node:
Intellectual Disability (D008607) | Parent Node:
Osteogenesis Imperfecta (D010013) | ..Starting node
.. Lowry Maclean syndrome (C537037)
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Child Nodes:
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Sister Nodes: | ..Al Gazali Sabrinathan Nair syndrome (C535617)
| ..Astley-Kendall syndrome (C535392)
| ..Bruck syndrome 1 (C537406)
| ..Bruck syndrome 2 (C537407)
| ..Cole Carpenter syndrome (C535963)
| ..GNATHODIAPHYSEAL DYSPLASIA (OMIM:166260)
| ..Grant syndrome (C537293)
| ..Lowry Maclean syndrome (C537037)
| ..OI/EDS Combined Syndrome (C565178)
| ..Osteogenesis imperfecta congenita, microcephaly, and cataracts (C537558)
| ..Osteogenesis Imperfecta Type VII (C565200)
| ..Osteogenesis Imperfecta with Opalescent Teeth, Blue Sclerae and Wormian Bones, but Without Fractures (C563487)
| ..Osteogenesis imperfecta, Levin type (C536039)
| ..Osteogenesis imperfecta, type 1A (C536041)
| ..Osteogenesis imperfecta, type 2A (C536042)
| ..Osteogenesis imperfecta, type 2B (C536043)
| ..Osteogenesis imperfecta, type 3 (C536044)
| ..Osteogenesis imperfecta, type 4 (C536045)
| ..Osteogenesis imperfecta, type 5 (C536046)
| ..Osteogenesis imperfecta, type 6 (C536047)
| ..Osteogenesis imperfecta, type 7 (C536048)
| ..Osteogenesis Imperfecta, Type IX (C564921)
| ..Osteogenesis Imperfecta, Type V (C567042)
| ..Osteogenesis Imperfecta, Type VI (C567041)
| ..Osteogenesis imperfecta, type VIII (C536049)
| ..Osteopenic Nonfracture Syndrome (C567172)
| ..Osteoporosis-pseudoglioma syndrome (C536063)
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Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
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| Term ID: | 6547 |
| Name: | Lowry Maclean syndrome |
| Definition: | |
| Alternative IDs: | |
| ParentIDs: | MESH:D000015|MESH:D002972|MESH:D003398|MESH:D003965|MESH:D005901|MESH:D006130|MESH:D006330|MESH:D008607|MESH:D010013 |
| TreeNumbers: | C05.116.099.370.894.232/C537037 |C05.116.099.708.685/C537037 |C05.500.460.185/C537037 |C05.660.207.240/C537037 |C05.660.207.540.460.185/C537037 |C05.660.207.707.249/C537037 |C05.660.906.364/C537037 |C06.198.257/C537037 |C07.320.440.185/C537037 |C07.465.525.185/C5 |
| Synonyms: | Lowry-Maclean Syndrome |Mental retardation, cleft palate, eventration of diaphragm, congenital heart defect, glaucoma, craniosynostosis, and growth failure |
| Slim Mappings: | Cardiovascular disease|Congenital abnormality|Connective tissue disease|Digestive system disease|Eye disease|Genetic disease (inborn)|Mental disorder|Mouth disease|Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms |
| Reference: |
MedGen: C537037
MeSH: C537037
OMIM:
Genes: | | Phenotypes | | | Disease Causing ClinVar Variants | |
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