Disease browser and phenotype portal

Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Disease Browser
Parent Node: Megalencephaly (D058627)
..Starting node ..Macrocephaly, benign familial (C537717)
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:

6657

Name:

Macrocephaly, benign familial

Definition:

Alternative IDs:

ParentIDs:

MESH:D058627

TreeNumbers:

C05.660.207.536/C537717 |C10.500.507.400.249/C537717 |C16.131.621.207.532/C537717 |C16.131.666.507.400.249/C537717

Synonyms:

Benign familial macrocephaly |Benign familial megalencephaly |Cole-Hughes syndrome

Slim Mappings:

Congenital abnormality|Musculoskeletal disease|Nervous system disease

Reference:

MedGen: C537717
MeSH: C537717
OMIM: 153470;

Genes:

Phenotypes

1	HP:0001475	Male-limited autosomal dominant
2	HP:0004422	Biparietal narrowing
3	HP:0000268	Dolichocephaly
4	HP:0002007	Frontal bossing
5	HP:0000343	Long philtrum
6	HP:0000256	Macrocephaly
7	HP:0002119	Ventriculomegaly

Disease Causing ClinVar Variants