ONTOLOGY REPORT - ANNOTATIONS


Term:Agenesis of Corpus Callosum
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Accession:DOID:9001999 term browser browse the term
Definition:Birth defect that results in a partial or complete absence of the CORPUS CALLOSUM. It may be isolated or a part of a syndrome (e.g., AICARDI'S SYNDROME; ACROCALLOSAL SYNDROME; ANDERMANN SYNDROME; and HOLOPROSENCEPHALY). Clinical manifestations include neuromotor skill impairment and INTELLECTUAL DISABILITY of variable severity.
Synonyms:exact_synonym: Absence of Corpus Callosum;   Corpus Callosum Absence;   Corpus Callosum Absences;   Corpus Callosum Ageneses;   Corpus Callosum Agenesis;   Corpus Callosum Dysgeneses;   Corpus Callosum Dysgenesis;   Corpus Callosum Hypogeneses;   Corpus Callosum Hypogenesis;   Corpus Callosum Malformation
 primary_id: MESH:D061085;   RDO:0009963
For additional species annotation, visit the Alliance of Genome Resources.


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Agenesis of Corpus Callosum term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G C2cd3 C2 calcium-dependent domain containing 3 JBrowse link 1 165,382,279 165,480,088 RGD:8554872
G Dcc DCC netrin 1 receptor JBrowse link 18 66,518,213 67,629,801 RGD:8554872
RGD:11554173
G Med12 mediator complex subunit 12 JBrowse link X 71,174,653 71,197,812 RGD:8554872
G Ndufs1 NADH:ubiquinone oxidoreductase core subunit S1 JBrowse link 9 69,919,863 69,953,182 RGD:8554872
G Sin3a SIN3 transcription regulator family member A JBrowse link 8 61,748,590 61,803,314 RGD:11554173
acrocallosal syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cep41 centrosomal protein 41 JBrowse link 4 57,966,783 58,006,931 RGD:8554872
G Foxg1 forkhead box G1 JBrowse link 6 69,971,227 69,974,037 RGD:11554173
G Kif7 kinesin family member 7 JBrowse link 1 141,434,183 141,452,592 RGD:7240710
RGD:8554872
RGD:11068757
RGD:11553832
RGD:11554173
G Shh sonic hedgehog signaling molecule JBrowse link 4 718,538 727,691 RGD:8554872
G Ticrr TOPBP1-interacting checkpoint and replication regulator JBrowse link 1 141,391,738 141,433,615 RGD:8554872
agenesis of the corpus callosum with peripheral neuropathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Emc4 ER membrane protein complex subunit 4 JBrowse link 3 103,852,139 103,857,172 RGD:8554872
G Nop10 NOP10 ribonucleoprotein JBrowse link 3 103,747,654 103,748,739 RGD:8554872
G Slc12a6 solute carrier family 12, member 6 JBrowse link 3 103,752,213 103,852,686 RGD:1580594
RGD:8554872
RGD:7240710
agnathia-otocephaly complex term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Foxh1 forkhead box H1 JBrowse link 7 117,730,307 117,733,076 RGD:13592920
G Prrx1 paired related homeobox 1 JBrowse link 13 81,147,038 81,215,559 RGD:7240710
RGD:8554872
RGD:11554173
G Trappc10 trafficking protein particle complex 10 JBrowse link 20 11,168,298 11,228,634 RGD:13592920
Chudley-Mccullough syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Clcc1 chloride channel CLIC-like 1 JBrowse link 2 211,450,426 211,479,885 RGD:8554872
G Gpsm2 G-protein signaling modulator 2 JBrowse link 2 211,480,120 211,528,096 RGD:7240710
RGD:8554872
RGD:11554173
RGD:11062393
Combined Oxidative Phosphorylation Deficiency 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mrps16 mitochondrial ribosomal protein S16 JBrowse link 15 4,351,292 4,353,694 RGD:7240710
RGD:8554872
corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Igbp1 immunoglobulin binding protein 1 JBrowse link X 70,322,764 70,345,005 RGD:7240710
RGD:8554872
CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Frmd4a FERM domain containing 4A JBrowse link 17 77,642,302 77,918,210 RGD:8554872
RGD:7240710
Corpus Callosum, Partial Agenesis of, X-Linked term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G L1cam L1 cell adhesion molecule JBrowse link X 156,901,244 156,928,064 RGD:7240710
RGD:8554872
Donnai-Barrow syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lmbrd1 LMBR1 domain containing 1 JBrowse link 9 30,939,555 31,038,381 RGD:8554872
G Lrp2 LDL receptor related protein 2 JBrowse link 3 55,665,153 55,822,484 RGD:7240710
RGD:8554872
FG syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atp6ap2 ATPase H+ transporting accessory protein 2 JBrowse link X 11,137,889 11,164,854 RGD:8554872
G Bcor BCL6 co-repressor JBrowse link X 11,570,155 11,692,022 RGD:8554872
G Cask calcium/calmodulin dependent serine protein kinase JBrowse link X 9,815,652 10,156,155 RGD:7240710
RGD:8554872
RGD:11576290
G Ddx3x DEAD-box helicase 3, X-linked JBrowse link X 10,400,363 10,414,010 RGD:8554872
G Flna filamin A JBrowse link X 156,460,785 156,487,245 RGD:7240710
RGD:8554872
RGD:11554173
G Gpr34 G protein-coupled receptor 34 JBrowse link X 10,022,986 10,043,504 RGD:8554872
G Gpr82 G protein-coupled receptor 82 JBrowse link X 9,992,832 10,001,036 RGD:8554872
G Med12 mediator complex subunit 12 JBrowse link X 71,174,653 71,197,812 RGD:7240710
RGD:8554872
RGD:12910952
RGD:12910948
RGD:11554173
G Med14 mediator complex subunit 14 JBrowse link X 10,964,035 11,082,403 RGD:8554872
G Mpc1l mitochondrial pyruvate carrier 1-like JBrowse link X 11,098,849 11,105,312 RGD:8554872
G Nyx nyctalopin JBrowse link X 10,197,547 10,218,583 RGD:8554872
G RGD1565685 similar to RIKEN cDNA 1810030O07 JBrowse link X 11,082,668 11,105,588 RGD:8554872
G Usp9x ubiquitin specific peptidase 9, X-linked JBrowse link X 10,510,033 10,660,555 RGD:8554872
GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Zfp148 zinc finger protein 148 JBrowse link 11 70,509,909 70,618,422 RGD:8554872
RGD:7240710
holoprosencephaly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Boc BOC cell adhesion associated, oncogene regulated JBrowse link 11 61,084,216 61,159,220 RGD:8554872
G Cdon cell adhesion associated, oncogene regulated JBrowse link 8 36,625,757 36,712,091 RGD:8554872
G Cnot1 CCR4-NOT transcription complex, subunit 1 JBrowse link 19 9,668,186 9,761,605 RGD:8554872
G Creb1 cAMP responsive element binding protein 1 JBrowse link 9 71,229,753 71,298,994 RGD:12801437
G Disp1 dispatched RND transporter family member 1 JBrowse link 13 101,451,932 101,597,570 RGD:8554872
G Dll1 delta like canonical Notch ligand 1 JBrowse link 1 57,318,621 57,326,732 RGD:8554872
G Fgf8 fibroblast growth factor 8 JBrowse link 1 265,492,949 265,498,965 RGD:8554872
G Fgfr1 Fibroblast growth factor receptor 1 JBrowse link 16 71,265,390 71,319,046 RGD:8554872
G Foxh1 forkhead box H1 JBrowse link 7 117,730,307 117,733,076 RGD:8554872
G Gas1 growth arrest-specific 1 JBrowse link 17 4,846,116 4,849,350 RGD:11554173
G Gli2 GLI family zinc finger 2 JBrowse link 13 34,829,021 35,049,172 RGD:8554872
RGD:11554173
G Kifc2 kinesin family member C2 JBrowse link 7 117,722,732 117,730,702 RGD:8554872
G Matn4 matrilin 4 JBrowse link 3 160,838,632 160,853,650 RGD:8554872
G Nodal nodal growth differentiation factor JBrowse link 20 31,035,729 31,044,096 RGD:11554173
RGD:8554872
G Ptch1 patched 1 JBrowse link 17 1,032,242 1,085,885 RGD:8554872
RGD:12798567
G Shh sonic hedgehog signaling molecule JBrowse link 4 718,538 727,691 RGD:9743971
RGD:8554872
RGD:11554173
RGD:12801437
RGD:12801425
RGD:12798570
G Six3 SIX homeobox 3 JBrowse link 6 8,886,730 8,891,094 RGD:1599336
RGD:8554872
RGD:11554173
RGD:1599335
G Sufu SUFU negative regulator of hedgehog signaling JBrowse link 1 266,143,766 266,241,742 RGD:8554872
G Tdgf1 teratocarcinoma-derived growth factor 1 JBrowse link 8 119,215,266 119,220,909 RGD:11554173
G Tgif1 TGFB-induced factor homeobox 1 JBrowse link 9 119,181,079 119,190,698 RGD:1599407
RGD:8554872
RGD:11554173
G Twsg1 twisted gastrulation BMP signaling modulator 1 JBrowse link 9 113,699,151 113,732,601 RGD:11554173
G Zic2 Zic family member 2 JBrowse link 15 108,908,366 108,913,812 RGD:11561948
RGD:11561954
RGD:11561949
holoprosencephaly 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gas1 growth arrest-specific 1 JBrowse link 17 4,846,116 4,849,350 RGD:8554872
G Ptch1 patched 1 JBrowse link 17 1,032,242 1,085,885 RGD:8554872
holoprosencephaly 11 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cdon cell adhesion associated, oncogene regulated JBrowse link 8 36,625,757 36,712,091 RGD:7240710
RGD:8554872
holoprosencephaly 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Six3 SIX homeobox 3 JBrowse link 6 8,886,730 8,891,094 RGD:7240710
RGD:8554872
holoprosencephaly 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Shh sonic hedgehog signaling molecule JBrowse link 4 718,538 727,691 RGD:7240710
RGD:8554872
holoprosencephaly 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tgif1 TGFB-induced factor homeobox 1 JBrowse link 9 119,181,079 119,190,698 RGD:8554872
RGD:7240710
holoprosencephaly 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Zic2 Zic family member 2 JBrowse link 15 108,908,366 108,913,812 RGD:7240710
RGD:8554872
holoprosencephaly 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ptch1 patched 1 JBrowse link 17 1,032,242 1,085,885 RGD:7240710
RGD:8554872
holoprosencephaly 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gli2 GLI family zinc finger 2 JBrowse link 13 34,829,021 35,049,172 RGD:7240710
RGD:8554872
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fgfr1 Fibroblast growth factor receptor 1 JBrowse link 16 71,265,390 71,319,046 RGD:8554872
RGD:7240710
Joubert Syndrome 12 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
Lissencephaly and Agenesis of Corpus Callosum term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dcx doublecortin JBrowse link X 115,098,675 115,175,515 RGD:8554872
NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lnpk lunapark, ER junction formation factor JBrowse link 3 61,432,128 61,494,828 RGD:8554872
RGD:7240710
Partial Agenesis of Corpus Callosum term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 JBrowse link 6 134,958,854 135,085,769 RGD:8554872
Proud Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arx aristaless related homeobox JBrowse link X 62,363,757 62,376,139 RGD:7240710
RGD:8554872
SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc1a4 solute carrier family 1 member 4 JBrowse link 14 104,582,884 104,612,417 RGD:7240710
RGD:8554872
Temtamy Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Grcc10 gene rich cluster, C10 gene JBrowse link 4 157,264,383 157,266,042 RGD:7240710
RGD:8554872
Vici syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Epg5 ectopic P-granules autophagy protein 5 homolog JBrowse link 18 74,299,965 74,397,115 RGD:7240710
RGD:8554872
RGD:11554173

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14920
    Pathological Conditions, Signs and Symptoms 7743
      Anatomical Pathological Conditions 1307
        Agenesis of Corpus Callosum 64
          Agenesis of Corpus Callosum with Facial Anomalies and Robin Sequence 0
          Aicardi syndrome 0
          Ben Ari Shuper Mimouni Syndrome 0
          CAMFAK Syndrome 0
          CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA 1
          Calloso-Genital Dysplasia 0
          Chudley-Mccullough syndrome 2
          Combined Oxidative Phosphorylation Deficiency 2 1
          Corpus Callosum, Partial Agenesis of, X-Linked 1
          Curatolo Cilio Pessagno Syndrome 0
          Donnai-Barrow syndrome 2
          Duker Weiss Siber syndrome 0
          FG syndrome 13
          Faye-Petersen Ward Carey Syndrome 0
          GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES 1
          Hypohidrotic Ectodermal Dysplasia, with Hypothyroidism and Agenesis of the Corpus Callosum 0
          Kozlowski Ouvrier Syndrome 0
          Lissencephaly and Agenesis of Corpus Callosum 1
          Median Cleft Lip, Corpus Callosum, Lipoma, and Skin Polyps 0
          Microcephaly, Corpus Callosum Dysgenesis and Cleft Lip-Palate 0
          NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM 1
          Nakamura Osame syndrome 0
          Partial Agenesis of Corpus Callosum 1
          Proud Syndrome 1
          Recurrent Spontaneous Hypothermia with Hypoplasia of the Corpus Callosum 0
          Rhizomelic Osteochondrodysplasia with Callosal Agenesis, Thrombocytopenia, Hydrocephalus, and Hypertension 0
          SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY 1
          Saal Bulas Syndrome 0
          Sakoda Complex 0
          Shapiro Syndrome 0
          Short Stature, Mental Retardation, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, and Atypical Clefting 0
          Stargardt Macular Degeneration Absent or Hypoplastic Corpus Callosum Mental Retardation and Dysmorphic Features 0
          Temtamy Syndrome 1
          Thrombocytopenia Robin Sequence 0
          Vici syndrome 1
          acrocallosal syndrome + 5
          agenesis of the corpus callosum with peripheral neuropathy 3
          corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome 1
          holoprosencephaly + 24
Path 2
Term Annotations click to browse term
  disease 14920
    Developmental Diseases 7769
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7091
        Congenital Abnormalities 3197
          Nervous System Malformations 664
            Agenesis of Corpus Callosum 64
              Agenesis of Corpus Callosum with Facial Anomalies and Robin Sequence 0
              Aicardi syndrome 0
              Ben Ari Shuper Mimouni Syndrome 0
              CAMFAK Syndrome 0
              CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA 1
              Calloso-Genital Dysplasia 0
              Chudley-Mccullough syndrome 2
              Combined Oxidative Phosphorylation Deficiency 2 1
              Corpus Callosum, Partial Agenesis of, X-Linked 1
              Curatolo Cilio Pessagno Syndrome 0
              Donnai-Barrow syndrome 2
              Duker Weiss Siber syndrome 0
              FG syndrome 13
              Faye-Petersen Ward Carey Syndrome 0
              GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES 1
              Hypohidrotic Ectodermal Dysplasia, with Hypothyroidism and Agenesis of the Corpus Callosum 0
              Kozlowski Ouvrier Syndrome 0
              Lissencephaly and Agenesis of Corpus Callosum 1
              Median Cleft Lip, Corpus Callosum, Lipoma, and Skin Polyps 0
              Microcephaly, Corpus Callosum Dysgenesis and Cleft Lip-Palate 0
              NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM 1
              Nakamura Osame syndrome 0
              Partial Agenesis of Corpus Callosum 1
              Proud Syndrome 1
              Recurrent Spontaneous Hypothermia with Hypoplasia of the Corpus Callosum 0
              Rhizomelic Osteochondrodysplasia with Callosal Agenesis, Thrombocytopenia, Hydrocephalus, and Hypertension 0
              SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY 1
              Saal Bulas Syndrome 0
              Sakoda Complex 0
              Shapiro Syndrome 0
              Short Stature, Mental Retardation, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, and Atypical Clefting 0
              Stargardt Macular Degeneration Absent or Hypoplastic Corpus Callosum Mental Retardation and Dysmorphic Features 0
              Temtamy Syndrome 1
              Thrombocytopenia Robin Sequence 0
              Vici syndrome 1
              acrocallosal syndrome + 5
              agenesis of the corpus callosum with peripheral neuropathy 3
              corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome 1
              holoprosencephaly + 24
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.