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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: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:15793702 PMID:15883293 PMID:15975938 PMID:16061565 PMID:16158432 PMID:16418739 PMID:16440883 PMID:16501574 PMID:16740155 PMID:16838304 PMID:17264867 PMID:17525745 PMID:17693524 PMID:18552176 PMID:18726952 PMID:19066959 PMID:19610084 PMID:20133659 PMID:20301628 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: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:25488817 PMID:25741868 PMID:25792360 PMID:28492532 PMID:30039206 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:11055896 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:17875876 PMID:17935505 PMID:17950653 PMID:18000976 PMID:18328977 PMID:18344207 PMID:18583390 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:25809207 PMID:25931420 PMID:26028288 PMID:26619011 PMID:26740388 PMID:26818779 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:10982400 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 16035
    Developmental Diseases 9546
      bone development disease 1343
        dysostosis 344
          Crouzon syndrome 24
            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
            autosomal recessive craniometaphyseal dysplasia 1
            oblique facial clefting 1 1
Path 2
Term Annotations click to browse term
  disease 16035
    disease of anatomical entity 15289
      Skin and Connective Tissue Diseases 5478
        connective tissue disease 4105
          bone disease 3536
            bone development disease 1343
              dysostosis 344
                synostosis 229
                  craniosynostosis 176
                    Crouzon syndrome 24
                      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
                      autosomal recessive craniometaphyseal dysplasia 1
                      oblique facial clefting 1 1
paths to the root