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ONTOLOGY REPORT - ANNOTATIONS


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 RECESSIVE
 primary_id: MESH:D058627;   RDO:0001124
 alt_id: RDO:0015591
For additional species annotation, visit the Alliance of Genome Resources.


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Macrocephaly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccnd2 cyclin D2 JBrowse link 4 159,674,885 159,697,207 RGD:11554173
G Chd8 chromodomain helicase DNA binding protein 8 JBrowse link 15 28,612,932 28,672,574 RGD:11554173
G Col11a2 collagen type XI alpha 2 chain JBrowse link 20 3,829,324 3,859,022 RGD:8554872
G Dock6 dedicator of cytokinesis 6 JBrowse link 8 22,822,412 22,874,670 RGD:8554872
G Fam177a1 family with sequence similarity 177, member A1 JBrowse link 6 76,041,080 76,055,912 RGD:8554872
G Gli3 GLI family zinc finger 3 JBrowse link 17 52,294,942 52,569,036 RGD:8554872
G Mtor mechanistic target of rapamycin kinase JBrowse link 5 165,263,813 165,373,967 RGD:8554872
G Nfia nuclear factor I/A JBrowse link 5 116,421,895 116,750,381 RGD:8554872
G Nfib nuclear factor I/B JBrowse link 5 100,436,343 100,647,962 RGD:8554872
G Nsd1 nuclear receptor binding SET domain protein 1 JBrowse link 17 9,840,859 9,955,391 RGD:8554872
G Pten phosphatase and tensin homolog JBrowse link 1 251,421,814 251,487,634 RGD:12859034
RGD:8554872
G Rps6ka3 ribosomal protein S6 kinase A3 JBrowse link X 37,469,736 37,576,055 RGD:8554872
G Slc25a22 solute carrier family 25 member 22 JBrowse link 1 214,410,388 214,418,236 RGD:8554872
G Tbc1d7 TBC1 domain family, member 7 JBrowse link 17 23,774,793 23,792,389 RGD:8554872
G Trit1 tRNA isopentenyltransferase 1 JBrowse link 5 140,711,943 140,756,893 RGD:8554872
G Usp7 ubiquitin specific peptidase 7 JBrowse link 10 6,930,462 7,019,910 RGD:8554872
Bannayan-Riley-Ruvalcaba syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha JBrowse link 2 118,831,350 118,861,456 RGD:8554872
G Pten phosphatase and tensin homolog JBrowse link 1 251,421,814 251,487,634 RGD:8554872
RGD:13592920
G Sdhb succinate dehydrogenase complex iron sulfur subunit B JBrowse link 5 159,484,378 159,505,063 RGD:8554872
chromosome 17q11.2 deletion syndrome, 1.4Mb term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rnf135 ring finger protein 135 JBrowse link 10 67,531,989 67,551,237 RGD:8554872
RGD:11554173
chromosome 1q21.1 deletion syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acp6 acid phosphatase 6, lysophosphatidic JBrowse link 2 199,284,177 199,305,793 RGD:8554872
G Bcl9 BCL9, transcription coactivator JBrowse link 2 199,334,644 199,420,083 RGD:8554872
G Chd1l chromodomain helicase DNA binding protein 1-like JBrowse link 2 199,714,044 199,792,270 RGD:8554872
G Fmo5 flavin containing dimethylaniline monoxygenase 5 JBrowse link 2 199,796,870 199,823,927 RGD:8554872
G Gja5 gap junction protein, alpha 5 JBrowse link 2 199,162,745 199,184,942 RGD:8554872
RGD:11554173
G Gja8 gap junction protein, alpha 8 JBrowse link 2 199,050,854 199,052,470 RGD:8554872
RGD:11554173
G Gpr89b G protein-coupled receptor 89B JBrowse link 2 198,999,945 199,038,702 RGD:8554872
G Prkab2 protein kinase AMP-activated non-catalytic subunit beta 2 JBrowse link 2 199,831,990 199,847,623 RGD:8554872
COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mitf melanocyte inducing transcription factor JBrowse link 4 130,172,484 130,425,496 RGD:8554872
RGD:7240710
Hemimegalencephaly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Foxp1 forkhead box P1 JBrowse link 4 131,362,178 131,963,466 RGD:11560525
G Grin1 glutamate ionotropic receptor NMDA type subunit 1 JBrowse link 3 2,507,745 2,534,664 RGD:8554872
G Mtor mechanistic target of rapamycin kinase JBrowse link 5 165,263,813 165,373,967 RGD:8554872
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha JBrowse link 2 118,831,350 118,861,456 RGD:8554872
G Rheb Ras homolog, mTORC1 binding JBrowse link 4 6,827,429 6,873,384 RGD:8554872
INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SEIZURES, AND SPEECH DELAY term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pak1 p21 (RAC1) activated kinase 1 JBrowse link 1 162,768,156 162,883,356 RGD:8554872
RGD:7240710
Kniest Like Dysplasia Lethal term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hspg2 heparan sulfate proteoglycan 2 JBrowse link 5 155,812,096 155,913,751 RGD:8554872
Luscan-Lumish syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Setd2 SET domain containing 2, histone lysine methyltransferase JBrowse link 8 118,802,478 118,888,224 RGD:8554872
RGD:7240710
Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kif7 kinesin family member 7 JBrowse link 1 141,434,183 141,452,592 RGD:8554872
RGD:7240710
Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rin2 Ras and Rab interactor 2 JBrowse link 3 139,871,330 140,087,679 RGD:7240710
RGD:8554872
MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Herc1 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 JBrowse link 8 72,029,550 72,198,363 RGD:8554872
RGD:7240710
macrocephaly-autism syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Klln killin, p53-regulated DNA replication inhibitor JBrowse link 1 251,417,849 251,420,794 RGD:8554872
G Pten phosphatase and tensin homolog JBrowse link 1 251,421,814 251,487,634 RGD:7240710
RGD:8554872
RGD:12832751
RGD:11554173
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tbc1d7 TBC1 domain family, member 7 JBrowse link 17 23,774,793 23,792,389 RGD:7240710
RGD:8554872
Megalencephaly Cutis Marmorata Telangiectatica Congenita term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Akt3 AKT serine/threonine kinase 3 JBrowse link 13 95,076,308 95,348,913 RGD:8554872
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha JBrowse link 2 118,831,350 118,861,456 RGD:7240710
RGD:8554872
G Pik3r2 phosphoinositide-3-kinase regulatory subunit 2 JBrowse link 16 20,415,109 20,424,982 RGD:8554872
Megalencephaly with Thick Corpus Callosum, Cerebellar Atrophy, and Intellectual Disability term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Herc1 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 JBrowse link 8 72,029,550 72,198,363 RGD:8554872
Mental Retardation, X-Linked 93 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Brwd3 bromodomain and WD repeat domain containing 3 JBrowse link X 79,817,968 79,909,891 RGD:7240710
RGD:8554872
Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Strada STE20 related adaptor alpha JBrowse link 10 94,355,369 94,384,404 RGD:7240710
RGD:8554872
Sebaceous Nevus Syndrome and Hemimegalencephaly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hras HRas proto-oncogene, GTPase JBrowse link 1 214,178,404 214,181,841 RGD:8554872
G Kras KRAS proto-oncogene, GTPase JBrowse link 4 179,482,562 179,515,483 RGD:8554872
G Lrrc56 leucine rich repeat containing 56 JBrowse link 1 214,182,232 214,197,184 RGD:8554872
G Nras NRAS proto-oncogene, GTPase JBrowse link 2 205,553,119 205,563,716 RGD:8554872
SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ext2 exostosin glycosyltransferase 2 JBrowse link 3 82,602,784 82,734,557 RGD:8554872
RGD:7240710
Snijders Blok-Campeau Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chd3 chromodomain helicase DNA binding protein 3 JBrowse link 10 55,943,467 55,970,417 RGD:7240710
RGD:8554872
syndromic X-linked intellectual disability Turner type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Huwe1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 JBrowse link X 21,474,627 21,603,348 RGD:8554872
RGD:7240710
THAUVIN-ROBINET-FAIVRE SYNDROME term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fibp FGF1 intracellular binding protein JBrowse link 1 220,840,078 220,844,412 RGD:8554872
RGD:7240710
VACTERL/VATER Association with Hydrocephalus term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Baz1a bromodomain adjacent to zinc finger domain, 1A JBrowse link 6 75,793,223 75,873,854 RGD:8554872
G Fancb FA complementation group B JBrowse link X 31,124,018 31,140,790 RGD:11554173
RGD:8554872
G Pten phosphatase and tensin homolog JBrowse link 1 251,421,814 251,487,634 RGD:11554173
RGD:8554872
G Zic3 Zic family member 3 JBrowse link X 140,875,191 140,888,344 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15590
    disease of anatomical entity 14919
      musculoskeletal system disease 4252
        Musculoskeletal Abnormalities 1294
          Craniofacial Abnormalities 1039
            Macrocephaly 53
              Bagatelle Cassidy syndrome 0
              Bannayan-Riley-Ruvalcaba syndrome 3
              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 + 9
              INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SEIZURES, AND SPEECH DELAY 1
              Kniest Like Dysplasia Lethal 1
              Luscan-Lumish syndrome 1
              MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION 1
              Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies 1
              Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis 1
              Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive 1
              Macrosomia Obesity Macrocephaly Ocular Abnormalities 0
              Megalencephaly Cutis Marmorata Telangiectatica Congenita 3
              Megalencephaly with Dysmyelination 0
              Megalencephaly with Thick Corpus Callosum, Cerebellar Atrophy, and Intellectual Disability 1
              Mental Retardation, Macrocephaly, Short Stature and Craniofacial Dysmorphism 0
              Mental Retardation, X-Linked 93 1
              Neuhauser Syndrome 0
              Pectus Excavatum, Macrocephaly, Short Stature, Dysplastic Nails 0
              Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy 1
              SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME 1
              Snijders Blok-Campeau Syndrome 1
              THAUVIN-ROBINET-FAIVRE SYNDROME 1
              VACTERL/VATER Association with Hydrocephalus 4
              Zori Stalker Williams Syndrome 0
              chromosome 17q11.2 deletion syndrome, 1.4Mb 1
              chromosome 1q21.1 deletion syndrome 8
              macrocephaly-autism syndrome 2
              syndromic X-linked intellectual disability Turner type 1
Path 2
Term Annotations click to browse term
  disease 15590
    Developmental Diseases 8723
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7503
        genetic disease 6993
          monogenic disease 4551
            autosomal genetic disease 3501
              autosomal dominant disease 2065
                complex cortical dysplasia with other brain malformations 477
                  Malformations of Cortical Development, Group I 334
                    Macrocephaly 53
                      Bagatelle Cassidy syndrome 0
                      Bannayan-Riley-Ruvalcaba syndrome 3
                      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 + 9
                      INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SEIZURES, AND SPEECH DELAY 1
                      Kniest Like Dysplasia Lethal 1
                      Luscan-Lumish syndrome 1
                      MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION 1
                      Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies 1
                      Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis 1
                      Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive 1
                      Macrosomia Obesity Macrocephaly Ocular Abnormalities 0
                      Megalencephaly Cutis Marmorata Telangiectatica Congenita 3
                      Megalencephaly with Dysmyelination 0
                      Megalencephaly with Thick Corpus Callosum, Cerebellar Atrophy, and Intellectual Disability 1
                      Mental Retardation, Macrocephaly, Short Stature and Craniofacial Dysmorphism 0
                      Mental Retardation, X-Linked 93 1
                      Neuhauser Syndrome 0
                      Pectus Excavatum, Macrocephaly, Short Stature, Dysplastic Nails 0
                      Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy 1
                      SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME 1
                      Snijders Blok-Campeau Syndrome 1
                      THAUVIN-ROBINET-FAIVRE SYNDROME 1
                      VACTERL/VATER Association with Hydrocephalus 4
                      Zori Stalker Williams Syndrome 0
                      chromosome 17q11.2 deletion syndrome, 1.4Mb 1
                      chromosome 1q21.1 deletion syndrome 8
                      macrocephaly-autism syndrome 2
                      syndromic X-linked intellectual disability Turner type 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.