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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:Macrocephaly
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Accession:DOID:9003816 term browser browse the term
Definition:A congenital abnormality in which the occipitofrontal circumference is greater than two standard deviations above the mean for a given age. It is associated with HYDROCEPHALUS; SUBDURAL EFFUSION; ARACHNOID CYSTS; or is part of a genetic condition (e.g., ALEXANDER DISEASE; SOTOS SYNDROME).
Synonyms:exact_synonym: Macrocephalies;   Megacephalies;   Megacephaly;   Megalencephalies;   Megalencephaly;   Megalocephalies;   Megalocephaly
 narrow_synonym: MACROCEPHALY SYNDROME, AUTOSOMAL RECESSIVE;   megalencephaly, autosomal dominant;   megalencephaly, autosomal recessive
 primary_id: MESH:D058627
 alt_id: OMIM:155350
For additional species annotation, visit the Alliance of Genome Resources.



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Macrocephaly term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc8 ATP binding cassette subfamily C member 8 ISO ClinVar Annotator: match by term: Macrocephaly ClinVar PMID:16613899 PMID:16885549 PMID:18025408 PMID:18981553 PMID:21989597 More... NCBI chr 1:96,598,663...96,679,495
Ensembl chr 1:96,598,647...96,679,510
JBrowse link
G Abcc9 ATP binding cassette subfamily C member 9 ISO ClinVar Annotator: match by term: Macrocephaly ClinVar PMID:22608503 PMID:22610116 PMID:25741868 PMID:26871653 PMID:28492532 NCBI chr 4:175,531,854...175,655,849
Ensembl chr 4:175,532,547...175,655,356
JBrowse link
G Ccnd2 cyclin D2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29642246 NCBI chr 4:159,966,883...159,989,261
Ensembl chr 4:159,962,363...159,989,495
JBrowse link
G Chd8 chromodomain helicase DNA binding protein 8 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Macrocephaly
CTD
ClinVar
PMID:24998929 PMID:25741868 PMID:30670789 PMID:32267004 NCBI chr15:24,905,789...24,965,461
Ensembl chr15:24,905,789...24,951,285
JBrowse link
G Col11a2 collagen type XI alpha 2 chain ISO ClinVar Annotator: match by term: Macrocephaly ClinVar PMID:24033266 PMID:28492532 NCBI chr20:4,786,929...4,816,598
Ensembl chr20:4,786,929...4,815,985
JBrowse link
G Erf Ets2 repressor factor ISO ClinVar Annotator: match by term: Macrocephaly ClinVar NCBI chr 1:80,829,935...80,838,388
Ensembl chr 1:80,829,935...80,838,388
JBrowse link
G Fam177a1 family with sequence similarity 177, member A1 ISO ClinVar Annotator: match by term: Macrocephaly ClinVar PMID:25558065 NCBI chr 6:72,632,587...72,647,052
Ensembl chr 6:72,632,623...72,647,553
JBrowse link
G Fibp FGF1 intracellular binding protein ISO ClinVar Annotator: match by term: Macrocephaly ClinVar PMID:26660953 NCBI chr 1:202,768,065...202,772,405
Ensembl chr 1:202,768,078...202,772,399
JBrowse link
G Grin1 glutamate ionotropic receptor NMDA type subunit 1 ISO ClinVar Annotator: match by term: Macrocephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:8,103,680...8,130,603
Ensembl chr 3:8,103,680...8,130,603
JBrowse link
G Gsk3a glycogen synthase kinase 3 alpha ISO ClinVar Annotator: match by term: Macrocephaly ClinVar NCBI chr 1:80,815,843...80,825,732
Ensembl chr 1:80,815,850...80,825,802
JBrowse link
G Map1b microtubule-associated protein 1B ISO ClinVar Annotator: match by term: Macrocephaly ClinVar PMID:25741868 NCBI chr 2:30,817,261...30,910,458
Ensembl chr 2:30,817,261...30,910,317
JBrowse link
G Mtor mechanistic target of rapamycin kinase ISO ClinVar Annotator: match by term: Macrocephaly ClinVar PMID:28492532 PMID:33077954 NCBI chr 5:158,884,856...158,994,311
Ensembl chr 5:158,884,804...158,994,311
JBrowse link
G Nfia nuclear factor I/A ISO ClinVar Annotator: match by term: Macrocephaly ClinVar NCBI chr 5:112,436,655...112,781,878
Ensembl chr 5:112,436,644...112,775,885
JBrowse link
G Nfib nuclear factor I/B ISO ClinVar Annotator: match by term: Macrocephaly ClinVar PMID:25741868 PMID:30388402 NCBI chr 5:96,759,208...96,973,092
Ensembl chr 5:96,764,653...96,975,479
JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha ISO ClinVar Annotator: match by term: Megalencephaly, autosomal dominant ClinVar PMID:25741868 PMID:26619011 PMID:27631024 PMID:28492532 PMID:31568861 NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032
JBrowse link
G Pten phosphatase and tensin homolog ISO DNA:missense mutation:cds:p.M134I (human)
ClinVar Annotator: match by term: Macrocephaly
ClinVar
RGD
PMID:10772390 PMID:21828076 PMID:25741868 PMID:28492532 PMID:23124040 RGD:12859034 NCBI chr 1:230,631,303...230,696,754
Ensembl chr 1:230,630,338...230,696,838
JBrowse link
G Slc25a22 solute carrier family 25 member 22 ISO ClinVar Annotator: match by term: Macrocephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:196,528,471...196,536,398
Ensembl chr 1:196,528,472...196,536,331
JBrowse link
G Tbc1d7 TBC1 domain family, member 7 ISO ClinVar Annotator: match by term: Macrocephaly ClinVar NCBI chr17:21,530,709...21,548,556
Ensembl chr17:21,531,016...21,548,553
JBrowse link
G Trit1 tRNA isopentenyltransferase 1 ISO ClinVar Annotator: match by term: Macrocephaly ClinVar PMID:25741868 NCBI chr 5:135,293,472...135,341,522
Ensembl chr 5:135,295,330...135,338,764
JBrowse link
G Usp7 ubiquitin specific peptidase 7 ISO ClinVar Annotator: match by term: Macrocephaly ClinVar PMID:25741868 NCBI chr10:6,880,684...6,925,033
Ensembl chr10:6,828,795...6,925,355
JBrowse link
G Wdfy3 WD repeat and FYVE domain containing 3 ISO ClinVar Annotator: match by term: Macrocephaly ClinVar PMID:25741868 NCBI chr14:7,578,245...7,810,491
Ensembl chr14:7,606,628...7,810,482
JBrowse link
G Zfp526 zinc finger protein 526 ISO ClinVar Annotator: match by term: Macrocephaly ClinVar NCBI chr 1:80,807,791...80,817,852
Ensembl chr 1:80,806,972...80,818,180
JBrowse link
Autosomal Dominant Mental Retardation 63 with Macrocephaly term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trio trio Rho guanine nucleotide exchange factor ISO ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal dominant 63, with macrocephaly | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY OMIM
ClinVar
PMID:25741868 PMID:27418539 PMID:28492532 PMID:28796471 PMID:32109419 NCBI chr 2:78,505,069...78,801,384
Ensembl chr 2:78,505,070...78,803,135
JBrowse link
Bannayan-Riley-Ruvalcaba syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Egfr epidermal growth factor receptor ISO ClinVar Annotator: match by term: Cowden syndrome 1 ClinVar NCBI chr14:91,176,931...91,349,722
Ensembl chr14:91,177,067...91,344,382
JBrowse link
G Klln killin, p53-regulated DNA replication inhibitor ISO ClinVar Annotator: match by term: Cowden syndrome 1 ClinVar PMID:2338203 PMID:12844284 PMID:16773562 PMID:17427195 PMID:21194675 More...
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha ISO ClinVar Annotator: match by term: Cowden syndrome 1 | ClinVar Annotator: match by term: MACROCEPHALY, PSEUDOPAPILLEDEMA, AND MULTIPLE HEMANGIOMATA ClinVar PMID:15016963 PMID:15254419 PMID:15520168 PMID:15647370 PMID:15805248 More... NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032
JBrowse link
G Pten phosphatase and tensin homolog ISO ClinVar Annotator: match by term: Bannayan-Riley-Ruvalcaba syndrome | ClinVar Annotator: match by term: Cowden syndrome 1 | ClinVar Annotator: match by term: MACROCEPHALY, PSEUDOPAPILLEDEMA, AND MULTIPLE HEMANGIOMATA | ClinVar Annotator: match by term: RUVALCABA-MYHRE-SMITH SYNDROME OMIM
ClinVar
PMID:1097835 PMID:1945792 PMID:2338203 PMID:7728760 PMID:8673088 More... NCBI chr 1:230,631,303...230,696,754
Ensembl chr 1:230,630,338...230,696,838
JBrowse link
G Sdhb succinate dehydrogenase complex iron sulfur subunit B ISO ClinVar Annotator: match by term: Cowden syndrome 1 | ClinVar Annotator: match by term: MACROCEPHALY, PSEUDOPAPILLEDEMA, AND MULTIPLE HEMANGIOMATA ClinVar PMID:11404820 PMID:14985401 PMID:16314641 PMID:16317055 PMID:16322339 More... NCBI chr 5:153,264,906...153,285,570
Ensembl chr 5:153,264,899...153,314,293
JBrowse link
chromosome 1q21.1 deletion syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acp6 acid phosphatase 6, lysophosphatidic ISO ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome ClinVar NCBI chr 2:184,711,975...184,733,067
Ensembl chr 2:184,711,619...184,733,017
JBrowse link
G Bcl9 BCL9, transcription coactivator ISO ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome ClinVar NCBI chr 2:184,760,616...184,846,261
Ensembl chr 2:184,760,618...184,786,435
JBrowse link
G Chd1l chromodomain helicase DNA binding protein 1-like ISO ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome ClinVar NCBI chr 2:185,138,526...185,217,498
Ensembl chr 2:185,139,308...185,217,595
JBrowse link
G Fmo5 flavin containing dimethylaniline monoxygenase 5 ISO ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome ClinVar NCBI chr 2:185,197,184...185,249,699
Ensembl chr 2:185,222,204...185,249,693
JBrowse link
G Gja5 gap junction protein, alpha 5 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome
CTD
ClinVar
PMID:25741868 PMID:28492532 NCBI chr 2:184,602,407...184,621,952
Ensembl chr 2:184,564,475...184,621,952
JBrowse link
G Gja8 gap junction protein, alpha 8 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome
CTD
ClinVar
PMID:25741868 NCBI chr 2:184,490,840...184,492,456
Ensembl chr 2:184,490,840...184,492,456
JBrowse link
G Gpr89b G protein-coupled receptor 89B ISO ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome ClinVar NCBI chr 2:184,408,136...184,445,560
Ensembl chr 2:184,401,438...184,445,584
JBrowse link
G Prkab2 protein kinase AMP-activated non-catalytic subunit beta 2 ISO ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome ClinVar NCBI chr 2:185,257,218...185,272,846
Ensembl chr 2:185,257,213...185,269,872
JBrowse link
COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mitf melanocyte inducing transcription factor ISO ClinVar Annotator: match by term: Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness OMIM
ClinVar
PMID:27889061 PMID:30311386 PMID:34599368 NCBI chr 4:130,409,020...130,621,145
Ensembl chr 4:130,409,217...130,621,145
JBrowse link
Hemimegalencephaly term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxp1 forkhead box P1 ISO protein:altered expression:neocortex (human) RGD PMID:22759905 RGD:11560525 NCBI chr 4:131,559,599...132,155,092
Ensembl chr 4:131,564,756...132,112,258
JBrowse link
G Grin1 glutamate ionotropic receptor NMDA type subunit 1 ISO ClinVar Annotator: match by term: Hemimegalencephaly ClinVar PMID:25741868 NCBI chr 3:8,103,680...8,130,603
Ensembl chr 3:8,103,680...8,130,603
JBrowse link
G Mtor mechanistic target of rapamycin kinase ISO ClinVar Annotator: match by term: Unilateral Megalencephaly ClinVar PMID:24631838 PMID:25799227 PMID:26619011 PMID:28864461 PMID:29281825 NCBI chr 5:158,884,856...158,994,311
Ensembl chr 5:158,884,804...158,994,311
JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha ISO ClinVar Annotator: match by term: Unilateral Megalencephaly ClinVar PMID:25741868 NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032
JBrowse link
G Pten phosphatase and tensin homolog ISO ClinVar Annotator: match by term: Hemimegalencephaly ClinVar PMID:25741868 NCBI chr 1:230,631,303...230,696,754
Ensembl chr 1:230,630,338...230,696,838
JBrowse link
G Rheb Ras homolog, mTORC1 binding ISO ClinVar Annotator: match by term: Hemimegalencephaly ClinVar NCBI chr 4:10,278,970...10,320,160
Ensembl chr 4:10,279,370...10,320,160
JBrowse link
G Rps6 ribosomal protein S6 ISO ClinVar Annotator: match by term: Hemimegalencephaly ClinVar NCBI chr 5:101,371,716...101,374,576
Ensembl chr 5:101,371,136...101,374,602
Ensembl chr 5:101,371,136...101,374,602
JBrowse link
Intellectual Developmental Disorder with Autism and Macrocephaly term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chd8 chromodomain helicase DNA binding protein 8 ISO ClinVar Annotator: match by term: Autism, susceptibility to, 18 | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISM AND MACROCEPHALY OMIM
ClinVar
PMID:18414213 PMID:22495309 PMID:23160955 PMID:24998929 PMID:25326635 More... NCBI chr15:24,905,789...24,965,461
Ensembl chr15:24,905,789...24,951,285
JBrowse link
Intellectual Developmental Disorder with Behavioral Abnormalities and Craniofacial Dysmorphism with or without Seizures term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Phf21a PHD finger protein 21A ISO ClinVar Annotator: match by term: Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures ClinVar
OMIM
PMID:25741868 PMID:30487643 PMID:31649809 NCBI chr 3:78,158,760...78,331,903
Ensembl chr 3:78,194,549...78,331,865
JBrowse link
Intellectual Developmental Disorder with Macrocephaly, Seizures, and Speech Delay term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pak1 p21 (RAC1) activated kinase 1 ISO ClinVar Annotator: match by term: Intellectual developmental disorder with macrocephaly, seizures, and speech delay | ClinVar Annotator: match by term: PAK1-related neurodevelopmental disorders OMIM
ClinVar
PMID:10975528 PMID:25741868 PMID:30290153 PMID:31504246 NCBI chr 1:152,111,172...152,226,390
Ensembl chr 1:152,111,188...152,226,383
JBrowse link
Kniest Like Dysplasia Lethal term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hspg2 heparan sulfate proteoglycan 2 ISO ClinVar Annotator: match by term: Lethal Kniest-like syndrome ClinVar PMID:11279527 PMID:24088041 PMID:24781210 PMID:25504735 PMID:25741868 More... NCBI chr 5:149,677,437...149,778,594
Ensembl chr 5:149,677,476...149,778,594
JBrowse link
G Ldlrad2 low density lipoprotein receptor class A domain containing 2 ISO ClinVar Annotator: match by term: Lethal Kniest-like syndrome ClinVar PMID:25504735 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 5:149,778,795...149,788,335
Ensembl chr 5:149,779,675...149,787,140
JBrowse link
Luscan-Lumish syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Setd2 SET domain containing 2, histone lysine methyltransferase ISO ClinVar Annotator: match by term: Luscan-Lumish syndrome | ClinVar Annotator: match by term: Luscan-lumish syndrome OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:20864444 PMID:22495309 PMID:23160955 More... NCBI chr 8:110,511,808...110,597,489
Ensembl chr 8:110,511,772...110,597,489
JBrowse link
Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kif7 kinesin family member 7 ISO ClinVar Annotator: match by term: Macrocephaly with multiple epiphyseal dysplasia and distinctive facies OMIM
ClinVar
PMID:9689990 PMID:21552264 PMID:22587682 PMID:25741868 PMID:28492532 NCBI chr 1:133,639,487...133,658,539
Ensembl chr 1:133,640,065...133,658,576
JBrowse link
MACROCEPHALY, ACQUIRED, WITH IMPAIRED INTELLECTUAL DEVELOPMENT term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nfib nuclear factor I/B ISO ClinVar Annotator: match by term: Macrocephaly, acquired, with impaired intellectual development ClinVar
OMIM
PMID:25741868 PMID:30388402 NCBI chr 5:96,759,208...96,973,092
Ensembl chr 5:96,764,653...96,975,479
JBrowse link
Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rin2 Ras and Rab interactor 2 ISO ClinVar Annotator: match by term: Macrocephaly, alopecia, cutis laxa, and scoliosis OMIM
ClinVar
PMID:19631308 PMID:20424861 PMID:20954239 PMID:24449201 PMID:25741868 More... NCBI chr 3:133,086,858...133,303,604
Ensembl chr 3:133,086,749...133,303,604
JBrowse link
Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Erc1 ELKS/RAB6-interacting/CAST family member 1 ISO ClinVar Annotator: match by term: Macrocephaly, dysmorphic facies, and psychomotor retardation ClinVar PMID:25741868 NCBI chr 4:152,763,664...153,055,706
Ensembl chr 4:152,767,419...153,055,639
JBrowse link
G Herc1 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 ISO ClinVar Annotator: match by term: Macrocephaly, dysmorphic facies, and psychomotor retardation OMIM
ClinVar
PMID:25741868 PMID:26138117 PMID:26153217 PMID:27108999 PMID:28492532 More... NCBI chr 8:66,857,169...67,070,318
Ensembl chr 8:66,856,935...67,070,312
JBrowse link
MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zbtb7a zinc finger and BTB domain containing 7a ISO ClinVar Annotator: match by term: Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin OMIM
ClinVar
PMID:31645653 PMID:34515416 NCBI chr 7:8,561,015...8,578,243
Ensembl chr 7:8,563,779...8,576,539
JBrowse link
macrocephaly-autism syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Klln killin, p53-regulated DNA replication inhibitor ISO ClinVar Annotator: match by term: Macrocephaly-autism syndrome ClinVar PMID:25741868 PMID:27535533
G Pten phosphatase and tensin homolog ISO ClinVar Annotator: match by term: Macrocephaly-autism syndrome | ClinVar Annotator: match by term: Macrocephaly/autism syndrome
CTD Direct Evidence: marker/mechanism
DNA:missense mutations:cds:p.H93R, p.D252G, p.F241S (human)
OMIM
ClinVar
CTD
RGD
PMID:9140396 PMID:9241266 PMID:9259288 PMID:9399897 PMID:9467011 More... RGD:12832751 NCBI chr 1:230,631,303...230,696,754
Ensembl chr 1:230,630,338...230,696,838
JBrowse link
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbc1d7 TBC1 domain family, member 7 ISO ClinVar Annotator: match by term: Macrocephaly/megalencephaly syndrome, autosomal recessive ClinVar PMID:23687350 PMID:24515783 PMID:25741868 PMID:28492532 NCBI chr17:21,530,709...21,548,556
Ensembl chr17:21,531,016...21,548,553
JBrowse link
Megalencephaly - Cutis Marmorata Telangiectatica Congenita term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akt3 AKT serine/threonine kinase 3 ISO ClinVar Annotator: match by term: Megalencephaly-capillary malformation-polymicrogyria syndrome ClinVar PMID:22729224 PMID:23745724 PMID:25416470 PMID:25523067 PMID:28086757 NCBI chr13:88,943,708...89,225,831
Ensembl chr13:88,946,091...89,225,708
JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha ISO ClinVar Annotator: match by term: MACROCEPHALY-CAPILLARY MALFORMATION | ClinVar Annotator: match by term: Macrocephaly cutis marmorata telangiectatica congenita | ClinVar Annotator: match by term: Megalencephaly-capillary malformation-polymicrogyria syndrome | ClinVar Annotator: match by term: PIK3CA related overgrowth spectrum OMIM
ClinVar
PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 More... NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032
JBrowse link
G Pik3r2 phosphoinositide-3-kinase regulatory subunit 2 ISO ClinVar Annotator: match by term: Macrocephaly cutis marmorata telangiectatica congenita ClinVar PMID:16357568 PMID:21984976 PMID:22729224 PMID:24497998 PMID:25741868 More... NCBI chr16:18,665,517...18,674,067
Ensembl chr16:18,665,457...18,674,065
JBrowse link
G Rit1 Ras-like without CAAX 1 ISO ClinVar Annotator: match by term: MACROCEPHALY-CAPILLARY MALFORMATION ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:174,180,742...174,195,455
Ensembl chr 2:174,180,848...174,195,455
JBrowse link
Megalencephaly with Thick Corpus Callosum, Cerebellar Atrophy, and Intellectual Disability term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Herc1 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 ISO ClinVar Annotator: match by term: Megalencephaly with thick corpus callosum, cerebellar atrophy, and intellectual disability ClinVar PMID:26153217 PMID:27108999 NCBI chr 8:66,857,169...67,070,318
Ensembl chr 8:66,856,935...67,070,312
JBrowse link
non-syndromic X-linked intellectual disability 93 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Brwd3 bromodomain and WD repeat domain containing 3 ISO ClinVar Annotator: match by term: BRWD3-Related Disorder | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 93 | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED, WITH MACROCEPHALY OMIM
ClinVar
PMID:7943039 PMID:17668385 PMID:18414213 PMID:25326637 PMID:25741868 More... NCBI chr  X:73,768,343...73,861,643
Ensembl chr  X:73,774,340...73,861,622
JBrowse link
Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Strada STE20 related adaptor alpha ISO ClinVar Annotator: match by term: Polyhydramnios, megalencephaly, and symptomatic epilepsy OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17522105 PMID:17576681 PMID:20424326 More... NCBI chr10:91,094,849...91,123,890
Ensembl chr10:91,094,687...91,123,830
JBrowse link
Sebaceous Nevus Syndrome and Hemimegalencephaly term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hras HRas proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Sebaceous nevus syndrome and hemimegalencephaly ClinVar PMID:12835555 PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 More... NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615
JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Sebaceous nevus syndrome and hemimegalencephaly ClinVar PMID:2278970 PMID:3122217 PMID:7773929 PMID:8439212 PMID:12460918 More... NCBI chr 4:178,185,418...178,218,484 JBrowse link
G Lrrc56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: Sebaceous nevus syndrome and hemimegalencephaly ClinVar PMID:12835555 PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 More... NCBI chr 1:196,299,843...196,315,170
Ensembl chr 1:196,299,846...196,315,172
JBrowse link
G Nras NRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Sebaceous nevus syndrome and hemimegalencephaly ClinVar PMID:1654209 PMID:2278970 PMID:2674680 PMID:3122217 PMID:6587382 More... NCBI chr 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626
JBrowse link
SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ext2 exostosin glycosyltransferase 2 ISO ClinVar Annotator: match by term: Seizures, scoliosis, and macrocephaly syndrome OMIM
ClinVar
PMID:9326317 PMID:10713884 PMID:10750558 PMID:11432960 PMID:16283885 More... NCBI chr 3:79,665,415...79,798,077
Ensembl chr 3:79,665,415...79,798,059
JBrowse link
SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Csgalnact1 chondroitin sulfate N-acetylgalactosaminyltransferase 1 ISO ClinVar Annotator: match by term: Skeletal dysplasia, mild, with joint laxity and advanced bone age OMIM
ClinVar
PMID:25741868 PMID:27599773 PMID:28492532 PMID:31325655 PMID:31705726 NCBI chr16:20,995,210...21,330,586
Ensembl chr16:21,235,784...21,330,319
JBrowse link
Snijders Blok-Campeau Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chd3 chromodomain helicase DNA binding protein 3 ISO ClinVar Annotator: match by term: Snijders Blok-Campeau syndrome OMIM
ClinVar
PMID:25741868 PMID:28135719 PMID:28492532 PMID:29463886 PMID:30397230 More... NCBI chr10:54,063,629...54,090,030
Ensembl chr10:54,063,629...54,090,047
JBrowse link
G Naa38 N(alpha)-acetyltransferase 38, NatC auxiliary subunit ISO ClinVar Annotator: match by term: Snijders Blok-Campeau syndrome ClinVar PMID:25741868 NCBI chr10:54,117,754...54,118,913
Ensembl chr10:54,117,163...54,119,494
JBrowse link
syndromic X-linked intellectual disability Turner type term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atrx ATRX, chromatin remodeler ISO ClinVar Annotator: match by term: Mental retardation, X-linked, with growth retardation, deafness, and microgenitalism ClinVar PMID:3239563 PMID:8968741 PMID:9244431 PMID:9326931 PMID:10398237 More... NCBI chr  X:70,850,981...70,997,330
Ensembl chr  X:70,850,981...70,997,330
JBrowse link
G Epor erythropoietin receptor ISO ClinVar Annotator: match by term: Mental retardation, X-linked, with growth retardation, deafness, and microgenitalism ClinVar PMID:8174675 PMID:9394420 PMID:25741868 PMID:28492532 NCBI chr 8:20,489,678...20,494,257
Ensembl chr 8:20,489,678...20,494,257
JBrowse link
G Huwe1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: HUWE1-related neurodevelopmental disorder | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, TURNER TYPE | ClinVar Annotator: match by term: Intellectual disability, X-linked syndromic, Turner type OMIM
ClinVar
PMID:6107045 PMID:7943042 PMID:7943044 PMID:16700052 PMID:18252223 More... NCBI chr  X:20,871,278...21,001,378
Ensembl chr  X:20,873,795...21,001,262
JBrowse link
Tenorio Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rnf125 ring finger protein 125 ISO ClinVar Annotator: match by term: Tenorio syndrome OMIM
ClinVar
PMID:25196541 PMID:25741868 PMID:28492532 NCBI chr18:12,254,066...12,275,719
Ensembl chr18:12,253,852...12,275,983
JBrowse link
THAUVIN-ROBINET-FAIVRE SYNDROME term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fibp FGF1 intracellular binding protein ISO ClinVar Annotator: match by term: Thauvin-Robinet-Faivre syndrome OMIM
ClinVar
PMID:25741868 PMID:26660953 PMID:27183861 NCBI chr 1:202,768,065...202,772,405
Ensembl chr 1:202,768,078...202,772,399
JBrowse link
X-linked VACTERL association term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Baz1a bromodomain adjacent to zinc finger domain, 1A ISO ClinVar Annotator: match by term: VATER/VACTERL association with CNS malformations ClinVar NCBI chr 6:72,389,701...72,512,516
Ensembl chr 6:72,389,703...72,512,459
JBrowse link
G Fancb FA complementation group B ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: VACTERL association, X-linked, with or without hydrocephalus | ClinVar Annotator: match by term: VACTERL-H
CTD
ClinVar
PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr  X:29,403,771...29,420,484
Ensembl chr  X:29,403,771...29,420,192
JBrowse link
G Fancl FA complementation group L ISO ClinVar Annotator: match by term: VACTERL association, X-linked, with or without hydrocephalus ClinVar PMID:19405097 PMID:23613520 PMID:25754594 PMID:28492532 PMID:29625052 NCBI chr14:100,249,733...100,317,958
Ensembl chr14:100,248,875...100,314,255
JBrowse link
G Pten phosphatase and tensin homolog ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: VACTERL-H | ClinVar Annotator: match by term: Vater association with macrocephaly and ventriculomegaly
CTD
ClinVar
PMID:9399897 PMID:9467011 PMID:10232405 PMID:10353779 PMID:10400993 More... NCBI chr 1:230,631,303...230,696,754
Ensembl chr 1:230,630,338...230,696,838
JBrowse link
G Sall1 spalt-like transcription factor 1 ISO ClinVar Annotator: match by term: VACTERL-H ClinVar PMID:25741868 NCBI chr19:18,005,782...18,022,705
Ensembl chr19:18,007,503...18,022,705
JBrowse link
G Zic3 Zic family member 3 ISO ClinVar Annotator: match by term: VACTERL association, X-linked, with or without hydrocephalus OMIM
ClinVar
PMID:2629409 PMID:14681828 PMID:17764085 PMID:23427188 PMID:24033266 More... NCBI chr  X:136,123,662...136,134,295
Ensembl chr  X:136,124,026...136,134,746
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18109
    disease of anatomical entity 17480
      musculoskeletal system disease 7162
        Musculoskeletal Abnormalities 2713
          Craniofacial Abnormalities 2322
            Macrocephaly 70
              Autosomal Dominant Mental Retardation 63 with Macrocephaly 1
              Bagatelle Cassidy syndrome 0
              Bannayan-Riley-Ruvalcaba syndrome 5
              Benign Familial Macrocephaly 0
              COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS 1
              Ehlers-Danlos Syndrome VI Phenotype with Macrocephaly 0
              Facial Abnormalities, Kyphoscoliosis, and Mental Retardation 0
              Fryns Macrocephaly 0
              Hemimegalencephaly + 11
              Intellectual Developmental Disorder with Autism and Macrocephaly 1
              Intellectual Developmental Disorder with Behavioral Abnormalities and Craniofacial Dysmorphism with or without Seizures 1
              Intellectual Developmental Disorder with Macrocephaly, Seizures, and Speech Delay 1
              Kniest Like Dysplasia Lethal 2
              Luscan-Lumish syndrome 1
              MACROCEPHALY, ACQUIRED, WITH IMPAIRED INTELLECTUAL DEVELOPMENT 1
              MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN 1
              Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies 1
              Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis 1
              Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation 2
              Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive 1
              Macrosomia Obesity Macrocephaly Ocular Abnormalities 0
              Megalencephaly - Cutis Marmorata Telangiectatica Congenita 4
              Megalencephaly with Dysmyelination 0
              Megalencephaly with Thick Corpus Callosum, Cerebellar Atrophy, and Intellectual Disability 1
              Mental Retardation, Macrocephaly, Short Stature and Craniofacial Dysmorphism 0
              Neuhauser Syndrome 0
              Pectus Excavatum, Macrocephaly, Short Stature, Dysplastic Nails 0
              Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy 1
              SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME 1
              SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE 1
              Snijders Blok-Campeau Syndrome 2
              THAUVIN-ROBINET-FAIVRE SYNDROME 1
              Tenorio Syndrome 1
              X-linked VACTERL association 6
              Zori Stalker Williams Syndrome 0
              chromosome 17q11.2 deletion syndrome 0
              chromosome 1q21.1 deletion syndrome 8
              macrocephaly-autism syndrome 2
              non-syndromic X-linked intellectual disability 93 1
              syndromic X-linked intellectual disability Turner type 3
Path 2
Term Annotations click to browse term
  disease 18109
    Developmental Disease 12858
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11550
        genetic disease 11085
          monogenic disease 8558
            autosomal genetic disease 7555
              autosomal dominant disease 5080
                complex cortical dysplasia with other brain malformations 1424
                  Malformations of Cortical Development, Group I 1270
                    Macrocephaly 70
                      Autosomal Dominant Mental Retardation 63 with Macrocephaly 1
                      Bagatelle Cassidy syndrome 0
                      Bannayan-Riley-Ruvalcaba syndrome 5
                      Benign Familial Macrocephaly 0
                      COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS 1
                      Ehlers-Danlos Syndrome VI Phenotype with Macrocephaly 0
                      Facial Abnormalities, Kyphoscoliosis, and Mental Retardation 0
                      Fryns Macrocephaly 0
                      Hemimegalencephaly + 11
                      Intellectual Developmental Disorder with Autism and Macrocephaly 1
                      Intellectual Developmental Disorder with Behavioral Abnormalities and Craniofacial Dysmorphism with or without Seizures 1
                      Intellectual Developmental Disorder with Macrocephaly, Seizures, and Speech Delay 1
                      Kniest Like Dysplasia Lethal 2
                      Luscan-Lumish syndrome 1
                      MACROCEPHALY, ACQUIRED, WITH IMPAIRED INTELLECTUAL DEVELOPMENT 1
                      MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN 1
                      Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies 1
                      Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis 1
                      Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation 2
                      Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive 1
                      Macrosomia Obesity Macrocephaly Ocular Abnormalities 0
                      Megalencephaly - Cutis Marmorata Telangiectatica Congenita 4
                      Megalencephaly with Dysmyelination 0
                      Megalencephaly with Thick Corpus Callosum, Cerebellar Atrophy, and Intellectual Disability 1
                      Mental Retardation, Macrocephaly, Short Stature and Craniofacial Dysmorphism 0
                      Neuhauser Syndrome 0
                      Pectus Excavatum, Macrocephaly, Short Stature, Dysplastic Nails 0
                      Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy 1
                      SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME 1
                      SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE 1
                      Snijders Blok-Campeau Syndrome 2
                      THAUVIN-ROBINET-FAIVRE SYNDROME 1
                      Tenorio Syndrome 1
                      X-linked VACTERL association 6
                      Zori Stalker Williams Syndrome 0
                      chromosome 17q11.2 deletion syndrome 0
                      chromosome 1q21.1 deletion syndrome 8
                      macrocephaly-autism syndrome 2
                      non-syndromic X-linked intellectual disability 93 1
                      syndromic X-linked intellectual disability Turner type 3
paths to the root