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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: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.


show annotations for term's descendants           Sort by:
 
holoprosencephaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Boc BOC cell adhesion associated, oncogene regulated ISO ClinVar Annotator: match by term: Holoprosencephaly ClinVar PMID:28677295 NCBI chr11:61,084,216...61,159,220
Ensembl chr11:61,083,757...61,158,838
JBrowse link
G Cdon cell adhesion associated, oncogene regulated ISO ClinVar Annotator: match by term: Holoprosencephaly ClinVar NCBI chr 8:36,625,757...36,712,091
Ensembl chr 8:36,625,733...36,710,949
JBrowse link
G Cnot1 CCR4-NOT transcription complex, subunit 1 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:25741868 PMID:28525974 PMID:31006510 PMID:31006513 PMID:32553196 NCBI chr19:9,668,186...9,761,605
Ensembl chr19:9,668,186...9,761,605
JBrowse link
G Creb1 cAMP responsive element binding protein 1 ISO protein:increased localization: prechordal mesoderm, nucleus RGD PMID:18338389 RGD:12801437 NCBI chr 9:71,229,753...71,298,994
Ensembl chr 9:71,230,108...71,293,435
JBrowse link
G Disp1 dispatched RND transporter family member 1 ISO ClinVar Annotator: match by term: Lobar holoprosencephaly
ClinVar Annotator: match by term: Holoprosencephaly
ClinVar PMID:25741868 NCBI chr13:101,451,932...101,597,570
Ensembl chr13:101,451,932...101,597,570
JBrowse link
G Dll1 delta like canonical Notch ligand 1 ISO ClinVar Annotator: match by term: Holoprosencephaly
ClinVar Annotator: match by term: Holoprosencephaly sequence
ClinVar PMID:28492532 NCBI chr 1:57,318,621...57,326,732
Ensembl chr 1:57,318,708...57,327,379
JBrowse link
G Fgf8 fibroblast growth factor 8 ISO ClinVar Annotator: match by term: Semilobar holoprosencephaly
ClinVar Annotator: match by term: Holoprosencephaly sequence
ClinVar PMID:20463092 PMID:22399515 PMID:25131394 PMID:25741868 PMID:26467025 PMID:26857713 PMID:26931467 PMID:28492532 PMID:29584859 NCBI chr 1:265,492,949...265,498,965
Ensembl chr 1:265,493,124...265,498,831
JBrowse link
G Fgfr1 Fibroblast growth factor receptor 1 ISO ClinVar Annotator: match by term: Semilobar holoprosencephaly
ClinVar Annotator: match by term: Holoprosencephaly
ClinVar PMID:26931467 NCBI chr16:71,265,390...71,319,046
Ensembl chr16:71,266,248...71,319,449
JBrowse link
G Foxh1 forkhead box H1 ISO ClinVar Annotator: match by term: Holoprosencephaly
ClinVar Annotator: match by term: Holoprosencephaly sequence
ClinVar PMID:18538293 PMID:25741868 PMID:28492532 NCBI chr 7:117,730,307...117,733,076
Ensembl chr 7:117,730,307...117,732,387
JBrowse link
G Fras1 Fraser extracellular matrix complex subunit 1 ISO ClinVar Annotator: match by term: Alobar holoprosencephaly ClinVar PMID:30311386 NCBI chr14:14,438,392...14,853,016
Ensembl chr14:14,439,082...14,689,554
JBrowse link
G Frem2 FRAS1 related extracellular matrix 2 ISO ClinVar Annotator: match by term: Alobar holoprosencephaly ClinVar PMID:30311386 NCBI chr 2:142,747,501...142,885,604
Ensembl chr 2:142,747,501...142,885,604
JBrowse link
G Gas1 growth arrest-specific 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17525797 NCBI chr17:4,846,116...4,849,350
Ensembl chr17:4,846,789...4,847,940
JBrowse link
G Gli2 GLI family zinc finger 2 ISO ClinVar Annotator: match by term: microform holoprosencephaly
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:27585885 NCBI chr13:34,829,021...35,049,172
Ensembl chr13:34,829,139...35,048,444
JBrowse link
G Kifc2 kinesin family member C2 ISO ClinVar Annotator: match by term: Holoprosencephaly ClinVar NCBI chr 7:117,722,732...117,730,702
Ensembl chr 7:117,723,263...117,730,702
JBrowse link
G Lama5 laminin subunit alpha 5 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:25741868 PMID:28735299 PMID:29534211 PMID:31680349 NCBI chr 3:175,553,042...175,601,112
Ensembl chr 3:175,553,045...175,601,127
JBrowse link
G Matn4 matrilin 4 ISO ClinVar Annotator: match by term: DEMYER SEQUENCE ClinVar PMID:25558065 NCBI chr 3:160,838,632...160,853,650
Ensembl chr 3:160,838,632...160,853,650
JBrowse link
G Nodal nodal growth differentiation factor ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Holoprosencephaly sequence
CTD
ClinVar
PMID:19064609 PMID:19553149 PMID:22352765 PMID:23264560 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr20:31,035,729...31,044,096
Ensembl chr20:31,035,729...31,044,096
JBrowse link
G Pgap1 post-GPI attachment to proteins inositol deacylase 1 ISS MouseDO NCBI chr 9:61,066,170...61,134,963
Ensembl chr 9:61,066,175...61,134,963
JBrowse link
G Pign phosphatidylinositol glycan anchor biosynthesis, class N ISS MouseDO NCBI chr13:25,510,593...25,662,943
Ensembl chr13:25,513,892...25,652,473
JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Holoprosencephaly
ClinVar Annotator: match by term: Holoprosencephaly sequence
DNA:missense mutations:exon:multiple
ClinVar PMID:8302318 PMID:11941477 PMID:17001668 PMID:21188540 PMID:22703879 PMID:22820256 PMID:24055113 PMID:24728327 PMID:25637381 PMID:26489027 PMID:26893459 PMID:27153395 PMID:28492532, PMID:11941477 RGD:12798567 NCBI chr17:1,032,242...1,085,885
Ensembl chr17:1,029,048...1,093,873
JBrowse link
G Shh sonic hedgehog signaling molecule treatment ISO DNA:mutations:cds:multiple (human)
ClinVar Annotator: match by term: Alobar holoprosencephaly
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Holoprosencephaly
DNA:missense mutation:CDS:p.V88D (263A>T) (human)
DNA:missense mutations, non-sense mutation:exon:multiple
ClinVar
CTD
PMID:15107988 PMID:17525797 PMID:23264560 PMID:27585885 PMID:29584859 PMID:30311386 PMID:31642701, PMID:8896572, PMID:18338389, PMID:11919111, PMID:10441331 RGD:9743971, RGD:12801437, RGD:12801425, RGD:12798570 NCBI chr 4:718,538...727,691
Ensembl chr 4:718,538...727,691
JBrowse link
G Six3 SIX homeobox 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10369266, PMID:10369266, PMID:15523651 RGD:1599336, RGD:1599335 NCBI chr 6:8,886,730...8,891,094
Ensembl chr 6:8,886,591...8,889,925
JBrowse link
G Sufu SUFU negative regulator of hedgehog signaling ISO ClinVar Annotator: match by term: microform holoprosencephaly ClinVar PMID:24728327 PMID:27363716 PMID:28492532 NCBI chr 1:266,143,766...266,241,742
Ensembl chr 1:266,143,818...266,239,016
JBrowse link
G Tdgf1 teratocarcinoma-derived growth factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12073012 NCBI chr 8:119,215,266...119,220,909
Ensembl chr 8:119,215,495...119,219,232
JBrowse link
G Tgif1 TGFB-induced factor homeobox 1 ISO holoprosencephaly-4, OMIM:142946
ClinVar Annotator: match by term: Holoprosencephaly
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:16705179 PMID:25741868 PMID:28492532, PMID:10835638 RGD:1599407 NCBI chr 9:119,181,079...119,190,698
Ensembl chr 9:119,181,083...119,190,698
JBrowse link
G Twsg1 twisted gastrulation BMP signaling modulator 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15013800 NCBI chr 9:113,699,151...113,732,601
Ensembl chr 9:113,699,170...113,732,622
JBrowse link
G Zic2 Zic family member 2 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence
DNA:insertion,deletion mutations:cds:
DNA:deletion, duplication, frameshift, transition mutations:cds,intron:
ClinVar PMID:25741868, PMID:18617531, PMID:9771712, PMID:22847929 RGD:11561948, RGD:11561954, RGD:11561949 NCBI chr15:108,908,366...108,913,812
Ensembl chr15:108,908,607...108,912,737
JBrowse link
G Zrsr2 zinc finger (CCCH type), RNA binding motif and serine/arginine rich 2 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:25679214 PMID:25741868 PMID:31680349 NCBI chr  X:32,304,707...32,327,419
Ensembl chr  X:32,304,757...32,328,364
JBrowse link
agnathia-otocephaly complex term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxh1 forkhead box H1 ISS OMIM:202650 MouseDO NCBI chr 7:117,730,307...117,733,076
Ensembl chr 7:117,730,307...117,732,387
JBrowse link
G Prrx1 paired related homeobox 1 ISO ClinVar Annotator: match by term: Agnathia-otocephaly complex
ClinVar Annotator: match by term: Dysgnathia complex
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:202650
OMIM
ClinVar
CTD
PMID:12244557 PMID:21294718 PMID:22211708 PMID:22674740 PMID:23444262 PMID:25741868 NCBI chr13:81,147,038...81,215,559
Ensembl chr13:81,147,348...81,214,546
JBrowse link
G Trappc10 trafficking protein particle complex 10 ISS OMIM:202650 MouseDO NCBI chr20:11,168,298...11,228,634
Ensembl chr20:11,168,298...11,228,625
JBrowse link
holoprosencephaly 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdon cell adhesion associated, oncogene regulated ISO ClinVar Annotator: match by term: Holoprosencephaly 1 ClinVar PMID:25741868 NCBI chr 8:36,625,757...36,712,091
Ensembl chr 8:36,625,733...36,710,949
JBrowse link
G Fgf8 fibroblast growth factor 8 ISO ClinVar Annotator: match by term: Holoprosencephaly 1 ClinVar PMID:18596921 PMID:21045958 NCBI chr 1:265,492,949...265,498,965
Ensembl chr 1:265,493,124...265,498,831
JBrowse link
G Gas1 growth arrest-specific 1 ISO ClinVar Annotator: match by term: Holoprosencephaly 1 ClinVar PMID:20583177 PMID:21842183 NCBI chr17:4,846,116...4,849,350
Ensembl chr17:4,846,789...4,847,940
JBrowse link
G Gli2 GLI family zinc finger 2 ISO ClinVar Annotator: match by term: Holoprosencephaly 1 ClinVar PMID:25741868 NCBI chr13:34,829,021...35,049,172
Ensembl chr13:34,829,139...35,048,444
JBrowse link
G Zic2 Zic family member 2 ISO ClinVar Annotator: match by term: Holoprosencephaly 1 ClinVar PMID:22859937 NCBI chr15:108,908,366...108,913,812
Ensembl chr15:108,908,607...108,912,737
JBrowse link
holoprosencephaly 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdon cell adhesion associated, oncogene regulated ISO ClinVar Annotator: match by term: Holoprosencephaly 11
ClinVar Annotator: match by OMIM:614226
OMIM
ClinVar
PMID:21802063 PMID:25741868 PMID:28492532 NCBI chr 8:36,625,757...36,712,091
Ensembl chr 8:36,625,733...36,710,949
JBrowse link
Holoprosencephaly 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cnot1 CCR4-NOT transcription complex, subunit 1 ISO ClinVar Annotator: match by term: HOLOPROSENCEPHALY 12 WITH OR WITHOUT PANCREATIC AGENESIS OMIM
ClinVar
PMID:25741868 PMID:28525974 PMID:31006510 PMID:31006513 PMID:32553196 NCBI chr19:9,668,186...9,761,605
Ensembl chr19:9,668,186...9,761,605
JBrowse link
Holoprosencephaly 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Stag2 stromal antigen 2 ISO ClinVar Annotator: match by term: HOLOPROSENCEPHALY 13, X-LINKED OMIM
ClinVar
PMID:28296084 PMID:30765867 PMID:31334757 NCBI chr  X:128,493,603...128,624,418
Ensembl chr  X:128,493,614...128,624,418
JBrowse link
holoprosencephaly 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Six3 SIX homeobox 3 ISO ClinVar Annotator: match by term: Holoprosencephaly 2
ClinVar Annotator: match by OMIM:157170
OMIM
ClinVar
PMID:10369266 PMID:10923031 PMID:11039582 PMID:15221788 PMID:15523651 PMID:17001667 PMID:17584896 PMID:18791198 PMID:19346217 PMID:19353631 PMID:20157829 PMID:20531442 PMID:25741868 PMID:26080100 PMID:26467025 PMID:28492532 NCBI chr 6:8,886,730...8,891,094
Ensembl chr 6:8,886,591...8,889,925
JBrowse link
holoprosencephaly 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmbr1 limb development membrane protein 1 ISO ClinVar Annotator: match by term: Holoprosencephaly 3 ClinVar PMID:28492532 NCBI chr 4:2,116,094...2,274,111
Ensembl chr 4:2,116,094...2,201,749
JBrowse link
G Shh sonic hedgehog signaling molecule ISO ClinVar Annotator: match by term: Holoprosencephaly 3
ClinVar Annotator: match by OMIM:142945
OMIM
ClinVar
PMID:8896572 PMID:9302262 PMID:9600232 PMID:10479723 PMID:10556296 PMID:11471164 PMID:11857543 PMID:11919111 PMID:12567406 PMID:12709790 PMID:15292211 PMID:16282375 PMID:18655123 PMID:19478089 PMID:19533790 PMID:19603532 PMID:19920144 PMID:20157829 PMID:20425842 PMID:21416594 PMID:22897141 PMID:25741868 PMID:26467025 PMID:28127823 PMID:28492532 PMID:29205322 PMID:30311386 NCBI chr 4:718,538...727,691
Ensembl chr 4:718,538...727,691
JBrowse link
holoprosencephaly 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tgif1 TGFB-induced factor homeobox 1 ISO ClinVar Annotator: match by OMIM:142946
ClinVar Annotator: match by term: Holoprosencephaly 4
ClinVar
OMIM
PMID:10835638 PMID:11810641 PMID:12522553 PMID:16199538 PMID:16962354 PMID:17001671 PMID:19431187 PMID:21940735 PMID:22125506 PMID:24123366 PMID:25741868 PMID:28492532 NCBI chr 9:119,181,079...119,190,698
Ensembl chr 9:119,181,083...119,190,698
JBrowse link
holoprosencephaly 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clybl citramalyl-CoA lyase ISO ClinVar Annotator: match by term: Holoprosencephaly 5 ClinVar PMID:19955556 PMID:28492532 NCBI chr15:108,608,203...108,838,222
Ensembl chr15:108,608,204...108,838,235
JBrowse link
G Tm9sf2 transmembrane 9 superfamily member 2 ISO ClinVar Annotator: match by term: Holoprosencephaly 5 ClinVar PMID:19955556 PMID:28492532 NCBI chr15:108,526,341...108,579,268
Ensembl chr15:108,526,014...108,579,256
JBrowse link
G Ubac2 UBA domain containing 2 ISO ClinVar Annotator: match by term: Holoprosencephaly 5 ClinVar PMID:19955556 PMID:28492532 NCBI chr15:108,286,407...108,433,531
Ensembl chr15:108,286,453...108,433,529
JBrowse link
G Zic2 Zic family member 2 ISO ClinVar Annotator: match by term: Holoprosencephaly 5
ClinVar Annotator: match by OMIM:609637
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:9771712 PMID:11285244 PMID:11479728 PMID:15590697 PMID:19177455 PMID:19955556 PMID:21638761 PMID:21990207 PMID:22847929 PMID:25741868 PMID:28492532 NCBI chr15:108,908,366...108,913,812
Ensembl chr15:108,908,607...108,912,737
JBrowse link
G Zic5 Zic family member 5 ISO ClinVar Annotator: match by term: Holoprosencephaly 5 ClinVar PMID:19955556 PMID:28492532 NCBI chr15:108,891,992...108,907,601
Ensembl chr15:108,891,992...108,898,703
JBrowse link
holoprosencephaly 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Holoprosencephaly 7
ClinVar Annotator: match by OMIM:610828
OMIM
ClinVar
PMID:1347096 PMID:8302318 PMID:9463336 PMID:11941477 PMID:12204003 PMID:12925203 PMID:15712338 PMID:16231297 PMID:16301862 PMID:17001668 PMID:17096318 PMID:17985375 PMID:18502968 PMID:19346217 PMID:20485063 PMID:21188540 PMID:21520333 PMID:22313357 PMID:22675565 PMID:22703879 PMID:22820256 PMID:22995991 PMID:23313819 PMID:23334667 PMID:23761049 PMID:23951062 PMID:24033266 PMID:24055113 PMID:24204797 PMID:24368541 PMID:24728327 PMID:24942795 PMID:25260786 PMID:25637381 PMID:25741868 PMID:26489027 PMID:26544948 PMID:26893459 PMID:27153395 PMID:27535533 PMID:27561271 PMID:27930734 PMID:28492532 PMID:28873162 PMID:29575684 NCBI chr17:1,032,242...1,085,885
Ensembl chr17:1,029,048...1,093,873
JBrowse link
holoprosencephaly 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gli2 GLI family zinc finger 2 ISO ClinVar Annotator: match by term: Holoprosencephaly 9
ClinVar Annotator: match by OMIM:610829
OMIM
ClinVar
PMID:1756909 PMID:14581620 PMID:15994174 PMID:16327884 PMID:17096318 PMID:17569090 PMID:19223936 PMID:20685056 PMID:20685856 PMID:21204792 PMID:21416594 PMID:22967285 PMID:22978696 PMID:23408573 PMID:24744436 PMID:25741868 PMID:26893459 PMID:28492532 PMID:29876959 PMID:30311386 PMID:30548673 NCBI chr13:34,829,021...35,049,172
Ensembl chr13:34,829,139...35,048,444
JBrowse link
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr1 Fibroblast growth factor receptor 1 ISO ClinVar Annotator: match by null
ClinVar Annotator: match by term: Hartsfield syndrome
ClinVar
OMIM
PMID:15605412 PMID:16764984 PMID:19504604 PMID:23657145 PMID:23812909 PMID:24204987 PMID:24888332 PMID:25064402 PMID:25326635 PMID:25741868 PMID:26931467 PMID:28492532 PMID:31474318 NCBI chr16:71,265,390...71,319,046
Ensembl chr16:71,266,248...71,319,449
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    syndrome 7041
      holoprosencephaly 36
        Genoa Syndrome 0
        Holoprosencephaly 10 0
        Holoprosencephaly 12 1
        Holoprosencephaly 13 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 5
        holoprosencephaly 11 1
        holoprosencephaly 2 1
        holoprosencephaly 3 2
        holoprosencephaly 4 1
        holoprosencephaly 5 5
        holoprosencephaly 6 0
        holoprosencephaly 7 1
        holoprosencephaly 8 0
        holoprosencephaly 9 1
Path 2
Term Annotations click to browse term
  disease 16085
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        Congenital Abnormalities 4795
          Nervous System Malformations 1102
            Agenesis of Corpus Callosum 143
              holoprosencephaly 36
                Genoa Syndrome 0
                Holoprosencephaly 10 0
                Holoprosencephaly 12 1
                Holoprosencephaly 13 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 5
                holoprosencephaly 11 1
                holoprosencephaly 2 1
                holoprosencephaly 3 2
                holoprosencephaly 4 1
                holoprosencephaly 5 5
                holoprosencephaly 6 0
                holoprosencephaly 7 1
                holoprosencephaly 8 0
                holoprosencephaly 9 1
paths to the root