Disease Browser
Parent Node: Dwarfism (D004392) Parent Node: Intellectual Disability (D008607) Parent Node: Megalencephaly (D058627) ..Starting node .. Mental retardation, macrocephaly, short stature and craniofacial dysmorphism (C537453) Child Nodes:
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) Human Disease MESH is developed by UMLS . Further data from MedGen , OMIM , CTD
Term ID: 6997
Name: Mental retardation, macrocephaly, short stature and craniofacial dysmorphism
Definition:
Alternative IDs:
ParentIDs: MESH:D004392|MESH:D008607|MESH:D058627
TreeNumbers: C05.116.099.343/C537453 |C05.660.207.536/C537453 |C10.500.507.400.249/C537453 |C10.597.606.643/C537453 |C16.131.621.207.532/C537453 |C16.131.666.507.400.249/C537453 |C16.320.240/C537453 |C19.297/C537453 |C23.888.592.604.646/C537453 |F03.550.600/C537453
Synonyms: Fryns Dereymaeker Haegeman syndrome
Slim Mappings: Congenital abnormality|Endocrine system disease|Genetic disease (inborn)|Mental disorder|Musculoskeletal disease|Nervous system disease|Signs and symptoms
Reference:
MedGen: C537453
MeSH: C537453
OMIM: Genes: Phenotypes Disease Causing ClinVar Variants