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ONTOLOGY REPORT - ANNOTATIONS


Term:holoprosencephaly
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Accession:DOID:4621 term browser browse the term
Definition:Anterior midline brain, cranial, and facial malformations resulting from the failure of the embryonic prosencephalon to undergo segmentation and cleavage. Alobar prosencephaly is the most severe form and features anophthalmia; cyclopia; severe INTELLECTUAL DISABILITY; CLEFT LIP; CLEFT PALATE; SEIZURES; and microcephaly. Semilobar holoprosencepaly is characterized by hypotelorism, microphthalmia, coloboma, nasal malformations, and variable degrees of INTELLECTUAL DISABILITY. Lobar holoprosencephaly is associated with mild (or absent) facial malformations and intellectual abilities that range from mild INTELLECTUAL DISABILITY to normal. Holoprosencephaly is associated with CHROMOSOME ABNORMALITIES.
Synonyms:exact_synonym: Arhinencephaly;   DeMyer sequence;   HPE, FAMILIAL;   HPEC;   Holoprosencephalies;   Holoprosencephaly sequence;   Holoprosencephaly, Familial Alobar;   alobar holoprosencephalies;   alobar holoprosencephaly;   arhinencephalies;   lobar holoprosencephalies;   lobar holoprosencephaly;   semilobar holoprosencephalies;   semilobar holoprosencephaly
 narrow_synonym: microform holoprosencephaly
 primary_id: MESH:D016142
 xref: GARD:6665;   ICD10CM:Q04.2;   NCI:C74988;   OMIM:PS236100;   ORDO:2162
For additional species annotation, visit the Alliance of Genome Resources.


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holoprosencephaly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Boc biregional cell adhesion molecule-related/down-regulated by oncogenes (Cdon) binding protein JBrowse link 16 44,485,045 44,558,870 RGD:8554872
G Cdon cell adhesion molecule-related/down-regulated by oncogenes JBrowse link 9 35,421,528 35,507,652 RGD:8554872
G Cnot1 CCR4-NOT transcription complex, subunit 1 JBrowse link 8 95,719,451 95,808,113 RGD:8554872
G Creb1 cAMP responsive element binding protein 1 JBrowse link 1 64,532,794 64,604,548 RGD:12801437
G Disp1 dispatched RND transporter family member 1 JBrowse link 1 183,086,264 183,221,537 RGD:8554872
G Dll1 delta like canonical Notch ligand 1 JBrowse link 17 15,367,354 15,376,927 RGD:8554872
G Fgf8 fibroblast growth factor 8 JBrowse link 19 45,736,798 45,742,941 RGD:8554872
G Fgfr1 fibroblast growth factor receptor 1 JBrowse link 8 25,518,759 25,575,718 RGD:8554872
G Foxh1 forkhead box H1 JBrowse link 15 76,667,829 76,671,614 RGD:8554872
G Gas1 growth arrest specific 1 JBrowse link 13 60,174,405 60,177,535 RGD:11554173
G Gli2 GLI-Kruppel family member GLI2 JBrowse link 1 118,834,061 119,054,405 RGD:8554872
RGD:11554173
G Kifc2 kinesin family member C2 JBrowse link 15 76,659,784 76,668,196 RGD:8554872
G Matn4 matrilin 4 JBrowse link 2 164,389,393 164,405,160 RGD:8554872
G Nodal nodal JBrowse link 10 61,417,972 61,425,338 RGD:11554173
RGD:8554872
G Pgap1 post-GPI attachment to proteins 1 JBrowse link 1 54,473,000 54,557,684 RGD:13592920
G Pign phosphatidylinositol glycan anchor biosynthesis, class N JBrowse link 1 105,518,421 105,663,741 RGD:13592920
G Ptch1 patched 1 JBrowse link 13 63,508,328 63,573,460 RGD:8554872
RGD:12798567
G Shh sonic hedgehog JBrowse link 5 28,456,840 28,467,101 RGD:9743971
RGD:8554872
RGD:11554173
RGD:12801437
RGD:12801425
RGD:12798570
G Six3 sine oculis-related homeobox 3 JBrowse link 17 85,613,608 85,626,191 RGD:1599336
RGD:11554173
RGD:1599335
G Sufu SUFU negative regulator of hedgehog signaling JBrowse link 19 46,396,896 46,488,804 RGD:8554872
G Tdgf1 teratocarcinoma-derived growth factor 1 JBrowse link 9 110,939,608 110,946,158 RGD:11554173
G Tgif1 TGFB-induced factor homeobox 1 JBrowse link 17 70,844,205 70,853,532 RGD:1599407
RGD:8554872
RGD:11554173
G Twsg1 twisted gastrulation BMP signaling modulator 1 JBrowse link 17 65,923,065 65,951,187 RGD:11554173
G Zic2 zinc finger protein of the cerebellum 2 JBrowse link 14 122,475,384 122,480,328 RGD:11561948
RGD:8554872
RGD:11561954
RGD:11561949
agnathia-otocephaly complex term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Foxh1 forkhead box H1 JBrowse link 15 76,667,829 76,671,614 RGD:13592920
G Prrx1 paired related homeobox 1 JBrowse link 1 163,245,119 163,315,145 RGD:7240710
RGD:8554872
RGD:11554173
G Trappc10 trafficking protein particle complex 10 JBrowse link 10 78,185,422 78,244,645 RGD:13592920
holoprosencephaly 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gas1 growth arrest specific 1 JBrowse link 13 60,174,405 60,177,535 RGD:8554872
G Ptch1 patched 1 JBrowse link 13 63,508,328 63,573,460 RGD:8554872
G Zic2 zinc finger protein of the cerebellum 2 JBrowse link 14 122,475,384 122,480,328 RGD:8554872
holoprosencephaly 11 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cdon cell adhesion molecule-related/down-regulated by oncogenes JBrowse link 9 35,421,528 35,507,652 RGD:7240710
RGD:8554872
RGD:13592920
Holoprosencephaly 12, with or without Pancreatic Agenesis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cnot1 CCR4-NOT transcription complex, subunit 1 JBrowse link 8 95,719,451 95,808,113 RGD:7240710
RGD:8554872
holoprosencephaly 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Six3 sine oculis-related homeobox 3 JBrowse link 17 85,613,608 85,626,191 RGD:7240710
RGD:8554872
RGD:13592920
holoprosencephaly 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Shh sonic hedgehog JBrowse link 5 28,456,840 28,467,101 RGD:7240710
RGD:8554872
RGD:13592920
holoprosencephaly 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tgif1 TGFB-induced factor homeobox 1 JBrowse link 17 70,844,205 70,853,532 RGD:8554872
RGD:7240710
holoprosencephaly 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Zic2 zinc finger protein of the cerebellum 2 JBrowse link 14 122,475,384 122,480,328 RGD:7240710
RGD:8554872
RGD:13592920
holoprosencephaly 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ptch1 patched 1 JBrowse link 13 63,508,328 63,573,460 RGD:7240710
RGD:8554872
holoprosencephaly 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gli2 GLI-Kruppel family member GLI2 JBrowse link 1 118,834,061 119,054,405 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 8 25,518,759 25,575,718 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12616
    syndrome 4910
      holoprosencephaly 26
        Genoa Syndrome 0
        Holoprosencephaly 10 0
        Holoprosencephaly 12, with or without Pancreatic Agenesis 1
        Holoprosencephaly with Fetal Akinesia/Hypokinesia Sequence 0
        Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate 1
        Holoprosencephaly, Recurrent Infections, and Monocytosis 0
        Lambotte Syndrome 0
        Microgastria Limb Reduction Defect 0
        Nonsyndromic Holoprosencephaly 0
        Pseudotrisomy 13 Syndrome 0
        Steinfeld Syndrome 0
        agnathia-otocephaly complex 3
        holoprosencephaly 1 3
        holoprosencephaly 11 1
        holoprosencephaly 2 1
        holoprosencephaly 3 1
        holoprosencephaly 4 1
        holoprosencephaly 5 1
        holoprosencephaly 6 0
        holoprosencephaly 7 1
        holoprosencephaly 8 0
        holoprosencephaly 9 1
Path 2
Term Annotations click to browse term
  disease 12616
    Developmental Diseases 8639
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7413
        Congenital Abnormalities 3708
          Nervous System Malformations 760
            Agenesis of Corpus Callosum 69
              holoprosencephaly 26
                Genoa Syndrome 0
                Holoprosencephaly 10 0
                Holoprosencephaly 12, with or without Pancreatic Agenesis 1
                Holoprosencephaly with Fetal Akinesia/Hypokinesia Sequence 0
                Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate 1
                Holoprosencephaly, Recurrent Infections, and Monocytosis 0
                Lambotte Syndrome 0
                Microgastria Limb Reduction Defect 0
                Nonsyndromic Holoprosencephaly 0
                Pseudotrisomy 13 Syndrome 0
                Steinfeld Syndrome 0
                agnathia-otocephaly complex 3
                holoprosencephaly 1 3
                holoprosencephaly 11 1
                holoprosencephaly 2 1
                holoprosencephaly 3 1
                holoprosencephaly 4 1
                holoprosencephaly 5 1
                holoprosencephaly 6 0
                holoprosencephaly 7 1
                holoprosencephaly 8 0
                holoprosencephaly 9 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.