Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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 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 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
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: 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, with or without Pancreatic Agenesis 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 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 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 16108
    syndrome 6992
      holoprosencephaly 34
        Genoa Syndrome 0
        Holoprosencephaly 10 0
        Holoprosencephaly 12, with or without Pancreatic Agenesis 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 16108
    Developmental Diseases 9509
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8365
        Congenital Abnormalities 4791
          Nervous System Malformations 1082
            Agenesis of Corpus Callosum 142
              holoprosencephaly 34
                Genoa Syndrome 0
                Holoprosencephaly 10 0
                Holoprosencephaly 12, with or without Pancreatic Agenesis 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

NHLBI Logo

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