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: Alobar Holoprosencephaly;   Arhinencephalies;   Arhinencephaly;   DeMyer sequence;   HPE, FAMILIAL;   HPEC;   Holoprosencephalies;   Holoprosencephaly sequence;   Holoprosencephaly, Familial Alobar;   Lobar Holoprosencephalies;   Lobar Holoprosencephaly;   alobar holoprosencephalies;   semilobar holoprosencephalies;   semilobar holoprosencephaly
 narrow_synonym: MICROFORM HOLOPROSENCEPHALY
 primary_id: MESH:D016142
 alt_id: RDO:0001154
 xref: GARD:6665;   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 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
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
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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14875
    physical disorder 742
      congenital nervous system abnormality 299
        holoprosencephaly 24
          Genoa Syndrome 0
          Holoprosencephaly 10 0
          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 2
          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 14875
    Developmental Diseases 7711
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6750
        Congenital Abnormalities 3150
          Musculoskeletal Abnormalities 1191
            Craniofacial Abnormalities 949
              holoprosencephaly 24
                Genoa Syndrome 0
                Holoprosencephaly 10 0
                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 2
                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
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.