| Disease Browser
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Parent Node:
 Hypertelorism (D006972) | Parent Node:
Intellectual Disability (D008607) | Parent Node:
Kyphosis (D007738) | Parent Node:
Megalencephaly (D058627) | ..Starting node
.. Facial Abnormalities, Kyphoscoliosis, and Mental Retardation (C565580)
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Child Nodes:
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Sister Nodes: | ..Bagatelle Cassidy syndrome (C537796)
| ..Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb (C567291)
| ..Ehlers-Danlos Syndrome VI Phenotype with Macrocephaly (C565563)
| ..Facial Abnormalities, Kyphoscoliosis, and Mental Retardation (C565580)
| ..Fryns Macrocephaly (C563963)
| ..Hemimegalencephaly (D065705)  1
| ..Kniest like dysplasia lethal (C537208)
| ..Macrocephaly Autism Syndrome (C565342)
| ..Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies (C564621)
| ..Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis (C567770)
| ..Macrocephaly, benign familial (C537717)
| ..Macrosomia obesity macrocephaly ocular abnormalities (C535812)
| ..Megalencephaly cutis marmorata telangiectatica congenita (C536142)
| ..Megalencephaly with Dysmyelination (C565408)
| ..Mental retardation, macrocephaly, short stature and craniofacial dysmorphism (C537453)
| ..Mental Retardation, X-Linked 93 (C567066)
| ..Mental Retardation, X-Linked, Syndromic, Turner Type (C567476)
| ..Neuhauser syndrome (C536143)
| ..Pectus Excavatum, Macrocephaly, Short Stature, Dysplastic Nails (C563941)
| ..Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy (C567020)
| ..Vater Association With Hydrocephalus (C564752)
| ..Zori Stalker Williams syndrome (C536728)
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Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
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| Term ID: | 4067 |
| Name: | Facial Abnormalities, Kyphoscoliosis, and Mental Retardation |
| Definition: | |
| Alternative IDs: | |
| ParentIDs: | MESH:D006972|MESH:D007738|MESH:D008607|MESH:D058627 |
| TreeNumbers: | C05.116.099.370.231.480/C565580 |C05.116.900.800.500/C565580 |C05.660.207.231.480/C565580 |C05.660.207.536/C565580 |C10.500.507.400.249/C565580 |C10.597.606.643/C565580 |C16.131.621.207.231.480/C565580 |C16.131.621.207.532/C565580 |C16.131.666.507.400.249/C56558 |
| Synonyms: | |
| Slim Mappings: | Congenital abnormality|Mental disorder|Musculoskeletal disease|Nervous system disease|Signs and symptoms |
| Reference: |
MedGen: C565580
MeSH: C565580
OMIM: 227250;
Genes: | | Phenotypes | | | Disease Causing ClinVar Variants | |
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