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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:Crouzon syndrome
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Accession:DOID:2339 term browser browse the term
Definition:Autosomal dominant CRANIOSYNOSTOSIS with shallow ORBITS; EXOPHTHALMOS; and maxillary hypoplasia.
Synonyms:exact_synonym: CFD1;   Craniofacial Dysarthrosis;   Craniofacial Dysostoses;   Craniofacial Dysostosis;   Craniofacial Dysostosis Syndrome;   Craniofacial Dysostosis Syndromes;   Craniofacial Dysostosis Type 1;   Craniofacial Dysostosis, Type I;   Crouzon Craniofacial Dysostosis;   Crouzon Disease;   Crouzon's Disease;   Crouzons disease;   craniofacial dysarthroses
 primary_id: MESH:D003394
 alt_id: OMIM:123500
 xref: GARD:6206;   ICD10CM:Q75.1;   NCI:C84653
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Crouzon syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr2 fibroblast growth factor receptor 2 ISO ClinVar Annotator: match by term: Crouzon syndrome
ClinVar Annotator: match by term: Crouzon disease
ClinVar Annotator: match by term: Craniofacial dysostosis type 1
DNA:missense mutations:cds:p.Y281C, p.G289P (human)
DNA:missense mutations, silent mutation:cds:multiple (human)
DNA:missense mutations:cds:multiple (human)
ClinVar Annotator: match by OMIM:123500
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:1519658, PMID:1697263, PMID:2172978, PMID:4078868, PMID:7558045, PMID:7573032, PMID:7581378, PMID:7607643, PMID:7655462, PMID:7668257, PMID:7719329, PMID:7719344, PMID:7719345, PMID:7773284, PMID:7874170, PMID:7987400, PMID:7989400, PMID:8434615, PMID:8522336, PMID:8528214, PMID:8644708, PMID:8650126, PMID:8651276, PMID:8755573, PMID:8957519, PMID:9002682, PMID:9048930, PMID:9152842, PMID:9169049, PMID:9385368, PMID:9462761, PMID:9521581, PMID:9539778, PMID:9585583, PMID:9586546, PMID:9677057, PMID:9700203, PMID:9719378, PMID:10067911, PMID:10394936, PMID:10541159, PMID:10633130, PMID:10712195, PMID:10735635, PMID:10851026, PMID:10874645, PMID:10951518, PMID:11121055, PMID:11173845, PMID:11325814, PMID:11343323, PMID:11390973, PMID:11781872, PMID:12124745, PMID:12884424, PMID:12884434, PMID:14499350, PMID:15282208, PMID:15286168, PMID:15316116, PMID:15389579, PMID:15793702, PMID:15883293, PMID:15975938, PMID:16061565, PMID:16158432, PMID:16418739, PMID:16440883, PMID:16501574, PMID:16740155, PMID:16838304, PMID:16969861, PMID:17251833, PMID:17264867, PMID:17525745, PMID:17693524, PMID:18552176, PMID:18726952, PMID:19066959, PMID:19610084, PMID:20133659, PMID:20301628, PMID:20489451, PMID:20503384, PMID:20643727, PMID:21367659, PMID:22238366, PMID:22387015, PMID:22558232, PMID:22664175, PMID:23002168, PMID:23348274, PMID:23431754, PMID:23495007, PMID:23546041, PMID:23754559, PMID:23786770, PMID:23908597, PMID:24127277, PMID:24489893, PMID:24656465, PMID:24728327, PMID:25157968, PMID:25209230, PMID:25245177, PMID:25271085, PMID:25343114, PMID:25361936, PMID:25425289, PMID:25741868, PMID:25759925, PMID:25759927, PMID:25867380, PMID:26362256, PMID:26380986, PMID:26429889, PMID:26467025, PMID:26619011, PMID:27028366, PMID:27228464, PMID:27481450, PMID:27683237, PMID:28492532, PMID:28901406, PMID:30311386, PMID:31145570, PMID:11380921, PMID:7874170, PMID:11711827 RGD:12801472, RGD:12801470, RGD:12801466 NCBI chr 1:200,590,951...200,696,946
Ensembl chr 1:200,590,953...200,696,928
JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Crouzon syndrome ClinVar PMID:1956068, PMID:4078868, PMID:7670477, PMID:7847369, PMID:8723106, PMID:8841188, PMID:8845844, PMID:9042914, PMID:9107244, PMID:9279753, PMID:9279764, PMID:9450868, PMID:9525367, PMID:9580776, PMID:9585583, PMID:9600744, PMID:9677066, PMID:9843059, PMID:9950359, PMID:10053006, PMID:10094188, PMID:10213050, PMID:10602123, PMID:10777366, PMID:10861678, PMID:11424131, PMID:11746040, PMID:12707965, PMID:14613973, PMID:15241680, PMID:15915095, PMID:16501574, PMID:17033969, PMID:17935505, PMID:17950653, PMID:18000976, PMID:18328977, PMID:18344207, PMID:19098178, PMID:19215249, PMID:19449410, PMID:22045636, PMID:22604720, PMID:23165795, PMID:23378035, PMID:23740942, PMID:24728327, PMID:24864036, PMID:25356217, PMID:25741868, PMID:25931420, PMID:26028288, PMID:26740388, PMID:28492532, PMID:32238909 NCBI chr14:82,272,322...82,287,739
Ensembl chr14:82,273,070...82,287,706
JBrowse link
G Tcof1 treacle ribosome biogenesis factor 1 ISO ClinVar Annotator: match by term: Craniofacial dysostosis ClinVar PMID:25741868 NCBI chr18:56,081,863...56,115,719
Ensembl chr18:56,082,195...56,115,593
JBrowse link
acrofacial dysostosis Cincinnati type term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Polr1a RNA polymerase I subunit A ISO ClinVar Annotator: match by term: Acrofacial dysostosis, Cincinnati type OMIM
ClinVar
PMID:25741868, PMID:25913037, PMID:28492532 NCBI chr 4:99,822,964...99,903,969
Ensembl chr 4:99,823,252...99,887,132
JBrowse link
acromelic frontonasal dysostosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zswim6 zinc finger, SWIM-type containing 6 ISO ClinVar Annotator: match by term: Acromelic frontonasal dysostosis OMIM
ClinVar
PMID:25105228, PMID:25741868, PMID:26706854, PMID:28492532, PMID:29198722 NCBI chr 2:38,978,042...39,042,886
Ensembl chr 2:38,979,865...39,007,976
JBrowse link
Autosomal Recessive Craniometaphyseal Dysplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gja1 gap junction protein, alpha 1 ISO ClinVar Annotator: match by term: Craniometaphyseal dysplasia, autosomal recessive type OMIM
ClinVar
PMID:11146471, PMID:23951358, PMID:25741868 NCBI chr20:37,876,650...37,889,097
Ensembl chr20:37,876,650...37,889,089
JBrowse link
Basel-Vanagaite-Smirin-Yosef syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Med25 mediator complex subunit 25 ISO ClinVar Annotator: match by term: Basel-Vanagaite-Smirin-Yosef syndrome ClinVar
OMIM
PMID:25741868, PMID:25792360 NCBI chr 1:100,872,240...100,887,864
Ensembl chr 1:100,874,976...100,887,853
JBrowse link
Crouzon syndrome-acanthosis nigricans syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: CROUZONODERMOSKELETAL SYNDROME
ClinVar Annotator: match by term: Crouzon syndrome with acanthosis nigricans
ClinVar Annotator: match by OMIM:612247
DNA:missense mutation:p.A391E(human)
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:1908846, PMID:1956068, PMID:4078868, PMID:7493034, PMID:7670477, PMID:7773297, PMID:7847369, PMID:8589699, PMID:8845844, PMID:8858131, PMID:8880573, PMID:9450868, PMID:9580776, PMID:9677066, PMID:9857065, PMID:9950359, PMID:10053006, PMID:10073901, PMID:10213050, PMID:10471491, PMID:10602123, PMID:10696568, PMID:10777366, PMID:11038465, PMID:11241532, PMID:11426459, PMID:11529856, PMID:11879084, PMID:12707965, PMID:12833394, PMID:15241680, PMID:15772091, PMID:16501574, PMID:16841094, PMID:17033969, PMID:17384684, PMID:17935505, PMID:17950653, PMID:18000976, PMID:18328977, PMID:18344207, PMID:18642369, PMID:18976668, PMID:19098178, PMID:19165726, PMID:19381019, PMID:19449410, PMID:19749790, PMID:20199409, PMID:21536014, PMID:22045636, PMID:22604720, PMID:23165795, PMID:23378035, PMID:23437153, PMID:23740942, PMID:24864036, PMID:25157968, PMID:25326635, PMID:25356217, PMID:25606676, PMID:25741868, PMID:25931420, PMID:26028288, PMID:26619011, PMID:26740388, PMID:28492532, PMID:30311386, PMID:7493034 RGD:11568032 NCBI chr14:82,272,322...82,287,739
Ensembl chr14:82,273,070...82,287,706
JBrowse link
Diamond Blackfan anemia 15 with mandibulofacial dysostosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100361854 ribosomal protein S26-like ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 15 with mandibulofacial dysostosis ClinVar PMID:17483715, PMID:19816270, PMID:23718193, PMID:24942156, PMID:28492532 NCBI chr  X:115,495,660...115,496,062
Ensembl chr  X:115,495,698...115,496,045
JBrowse link
G Rps28 ribosomal protein S28 ISO ClinVar Annotator: match by OMIM:606164 OMIM
ClinVar
PMID:24942156 NCBI chr 7:18,682,071...18,683,440
Ensembl chr 7:18,682,071...18,683,440
JBrowse link
G Tsr2 TSR2, ribosome maturation factor ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 15 with mandibulofacial dysostosis ClinVar PMID:11424144, PMID:24942156 NCBI chr  X:20,141,406...20,146,082
Ensembl chr  X:20,144,432...20,232,639
JBrowse link
Diamond-Blackfan anemia 14 with mandibulofacial dysostosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tsr2 TSR2, ribosome maturation factor ISO ClinVar Annotator: match by term: DIAMOND-BLACKFAN ANEMIA 14 WITH MANDIBULOFACIAL DYSOSTOSIS OMIM
ClinVar
PMID:11424144, PMID:24942156 NCBI chr  X:20,141,406...20,146,082
Ensembl chr  X:20,144,432...20,232,639
JBrowse link
distal arthrogryposis type 2A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myh3 myosin heavy chain 3 ISO OMIM NCBI chr10:53,621,375...53,645,194
Ensembl chr10:53,621,375...53,645,194
JBrowse link
Freeman-Sheldon syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myh3 myosin heavy chain 3 ISO ClinVar Annotator: match by OMIM:193700
ClinVar Annotator: match by term: Freeman-Sheldon syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:16642020, PMID:18414213, PMID:18695058, PMID:19142688, PMID:25741868, PMID:28492532, PMID:29805041, PMID:30311386, PMID:30379605, PMID:30826400 NCBI chr10:53,621,375...53,645,194
Ensembl chr10:53,621,375...53,645,194
JBrowse link
Goldenhar syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zic3 Zic family member 3 ISS OMIM:164210 MouseDO NCBI chr  X:140,875,191...140,888,344
Ensembl chr  X:140,878,216...140,888,795
JBrowse link
Mandibulofacial Dysostosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eftud2 elongation factor Tu GTP binding domain containing 2 ISO DNA:mutations:multiple (human) RGD PMID:23188108 RGD:10045556 NCBI chr10:90,932,071...90,983,971
Ensembl chr10:90,932,075...90,983,928
JBrowse link
G Polr1c RNA polymerase I and III subunit C ISO CTD Direct Evidence: marker/mechanism CTD PMID:21131976 NCBI chr 9:17,120,759...17,124,871
Ensembl chr 9:17,120,759...17,124,871
JBrowse link
G Polr1d RNA polymerase I and III subunit D ISO CTD Direct Evidence: marker/mechanism CTD PMID:21131976 NCBI chr12:9,693,828...9,727,416
Ensembl chr12:9,693,779...9,727,489
JBrowse link
G Tcof1 treacle ribosome biogenesis factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16938878 NCBI chr18:56,081,863...56,115,719
Ensembl chr18:56,082,195...56,115,593
JBrowse link
mandibulofacial dysostosis with alopecia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ednra endothelin receptor type A ISO ClinVar Annotator: match by term: Mandibulofacial dysostosis with alopecia ClinVar
OMIM
PMID:16116593, PMID:20583178, PMID:25772936 NCBI chr19:33,928,356...33,991,703
Ensembl chr19:33,928,356...33,991,703
JBrowse link
Mandibulofacial Dysostosis with Mental Deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca4 ATP binding cassette subfamily A member 4 ISO ClinVar Annotator: match by term: Mandibulofacial dysostosis with mental deficiency ClinVar PMID:9973280, PMID:10396622, PMID:11017087, PMID:11527935, PMID:11726554, PMID:15579991, PMID:16682602, PMID:18854780, PMID:19074458, PMID:23419329, PMID:25283059, PMID:25741868, PMID:28041643, PMID:28492532, PMID:28559085, PMID:30718709 NCBI chr 2:225,645,539...225,783,288
Ensembl chr 2:225,645,568...225,783,287
JBrowse link
mandibulofacial dysostosis, Guion-Almeida type term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eftud2 elongation factor Tu GTP binding domain containing 2 ISO ClinVar Annotator: match by term: Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate
ClinVar Annotator: match by OMIM:610536
DNA:mutations:multiple (human)
OMIM
ClinVar
PMID:16760738, PMID:19334086, PMID:22305528, PMID:22541558, PMID:23188108, PMID:25326635, PMID:25326637, PMID:25741868, PMID:28708303, PMID:22305528 RGD:10045557 NCBI chr10:90,932,071...90,983,971
Ensembl chr10:90,932,075...90,983,928
JBrowse link
Nager acrofacial dysostosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sf3b4 splicing factor 3b, subunit 4 ISO ClinVar Annotator: match by term: Nager syndrome
ClinVar Annotator: match by OMIM:154400
OMIM
ClinVar
PMID:18000904, PMID:22541558, PMID:23568615, PMID:24003905, PMID:24715698, PMID:25741868, PMID:27642715, PMID:28492532 NCBI chr 2:198,312,428...198,317,180
Ensembl chr 2:198,312,428...198,317,180
JBrowse link
oblique facial clefting 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Specc1l sperm antigen with calponin homology and coiled-coil domains 1-like ISO ClinVar Annotator: match by OMIM:600251 OMIM
ClinVar
PMID:21703590 NCBI chr20:14,287,470...14,393,879
Ensembl chr20:14,287,457...14,393,793
JBrowse link
Patterson Stevenson Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmbr1 limb development membrane protein 1 ISO ClinVar Annotator: match by term: Triphalangeal thumb polysyndactyly syndrome ClinVar PMID:17300748, PMID:18178630, PMID:18417549 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 DNA:duplication:enhancer RGD PMID:18417549 RGD:12801418 NCBI chr 4:718,538...727,691
Ensembl chr 4:718,538...727,691
JBrowse link
postaxial acrofacial dysostosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dhodh dihydroorotate dehydrogenase (quinone) ISO ClinVar Annotator: match by term: Miller syndrome
ClinVar Annotator: match by OMIM:263750
OMIM
ClinVar
PMID:19915526, PMID:20220176, PMID:21346561, PMID:22692683, PMID:22967083, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr19:42,066,103...42,087,906
Ensembl chr19:42,066,351...42,082,012
JBrowse link
Treacher Collins syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd74 CD74 molecule ISO ClinVar Annotator: match by term: Treacher Collins Syndrome, Dominant ClinVar NCBI chr18:56,071,420...56,080,851
Ensembl chr18:56,071,478...56,080,849
JBrowse link
G Polr1c RNA polymerase I and III subunit C ISS OMIM:154500 | OMIM:248390 | OMIM:613717 MouseDO NCBI chr 9:17,120,759...17,124,871
Ensembl chr 9:17,120,759...17,124,871
JBrowse link
G Polr1d RNA polymerase I and III subunit D ISS OMIM:154500 | OMIM:248390 | OMIM:613717 MouseDO NCBI chr12:9,693,828...9,727,416
Ensembl chr12:9,693,779...9,727,489
JBrowse link
G Tcof1 treacle ribosome biogenesis factor 1 ISO
ISS
OMIM:154500 | OMIM:248390 | OMIM:613717
ClinVar Annotator: match by term: Treacher Collins Syndrome, Dominant
MouseDO
ClinVar
PMID:9096354 RGD:1599379 NCBI chr18:56,081,863...56,115,719
Ensembl chr18:56,082,195...56,115,593
JBrowse link
Treacher Collins Syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tcof1 treacle ribosome biogenesis factor 1 ISO ClinVar Annotator: match by term: Treacher Collins syndrome 1 OMIM
ClinVar
PMID:8563749, PMID:8894686, PMID:9042910, PMID:9096354, PMID:9736782, PMID:9811939, PMID:11013442, PMID:12114482, PMID:14598341, PMID:15214011, PMID:15340364, PMID:19050407, PMID:21951868, PMID:22317976, PMID:23967202, PMID:24108658, PMID:25741868, PMID:26467025, PMID:28065470, PMID:28419064, PMID:28492532 NCBI chr18:56,081,863...56,115,719
Ensembl chr18:56,082,195...56,115,593
JBrowse link
Treacher Collins Syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Polr1d RNA polymerase I and III subunit D ISO ClinVar Annotator: match by term: Treacher Collins syndrome 2 OMIM
ClinVar
PMID:21131976, PMID:24603435 NCBI chr12:9,693,828...9,727,416
Ensembl chr12:9,693,779...9,727,489
JBrowse link
Treacher Collins Syndrome 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Polr1c RNA polymerase I and III subunit C ISO ClinVar Annotator: match by term: Treacher Collins syndrome 3
ClinVar Annotator: match by term: Treacher Collins Syndrome, Recessive
ClinVar Annotator: match by term: Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive
ClinVar Annotator: match by term: POLR1C-Related Disorders
ClinVar Annotator: match by OMIM:248390
OMIM
ClinVar
PMID:610060, PMID:11013442, PMID:21131976, PMID:22563501, PMID:24942156, PMID:25741868, PMID:26151409, PMID:26467025, PMID:28327206, PMID:28492532, PMID:29567474, PMID:30311386 NCBI chr 9:17,120,759...17,124,871
Ensembl chr 9:17,120,759...17,124,871
JBrowse link
Treacher Collins Syndrome 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Polr1b RNA polymerase I subunit B ISO ClinVar Annotator: match by term: Treacher Collins syndrome 4 OMIM
ClinVar
PMID:31649276 NCBI chr 3:121,632,043...121,656,506
Ensembl chr 3:121,632,043...121,656,506
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    Developmental Diseases 9506
      bone development disease 1329
        dysostosis 342
          Crouzon syndrome 24
            Autosomal Recessive Craniometaphyseal Dysplasia 1
            Basel-Vanagaite-Smirin-Yosef syndrome 1
            Bazopoulou Kyrkanidou Syndrome 0
            Cote Katsantoni Syndrome 0
            Craniofacial Dysostosis with Diaphyseal Hyperplasia 0
            Crouzon syndrome-acanthosis nigricans syndrome 1
            Freeman-Sheldon syndrome + 1
            Hallermann-Streiff syndrome + 0
            Hypomandibular Faciocranial Dysostosis 0
            Kaplan Plauchu Fitch Syndrome 0
            Mandibulofacial Dysostosis + 18
            Maxillofacial Dysostosis 0
            Tricho-Dento-Osseous Syndrome 1 0
            Whistling Face Syndrome, Recessive Form 0
            oblique facial clefting 1 1
Path 2
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      Skin and Connective Tissue Diseases 5474
        connective tissue disease 4073
          bone disease 3528
            bone development disease 1329
              dysostosis 342
                synostosis 229
                  craniosynostosis 176
                    Crouzon syndrome 24
                      Autosomal Recessive Craniometaphyseal Dysplasia 1
                      Basel-Vanagaite-Smirin-Yosef syndrome 1
                      Bazopoulou Kyrkanidou Syndrome 0
                      Cote Katsantoni Syndrome 0
                      Craniofacial Dysostosis with Diaphyseal Hyperplasia 0
                      Crouzon syndrome-acanthosis nigricans syndrome 1
                      Freeman-Sheldon syndrome + 1
                      Hallermann-Streiff syndrome + 0
                      Hypomandibular Faciocranial Dysostosis 0
                      Kaplan Plauchu Fitch Syndrome 0
                      Mandibulofacial Dysostosis + 18
                      Maxillofacial Dysostosis 0
                      Tricho-Dento-Osseous Syndrome 1 0
                      Whistling Face Syndrome, Recessive Form 0
                      oblique facial clefting 1 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.