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: spondyloepimetaphyseal dysplasia
Accession: DOID:0080027
browse the term
Definition: An osteochondrodysplasia that results_in abnormalities of bone growth located_in vertebral column, located_in epiphysis, located_in metaphysis. (DO)
Synonyms: exact_synonym: SPONDYLO-EPI-(META)-PHYSEAL DYSPLASIA
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Col2a1
collagen type II alpha 1 chain
ISS
MouseDO
NCBI chr 7:129,098,489...129,127,560
Ensembl chr 7:129,098,786...129,127,546
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Ddr2
discoidin domain receptor tyrosine kinase 2
ISO
ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia
ClinVar
NCBI chr13:82,193,623...82,318,229
Ensembl chr13:82,195,463...82,317,363
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Mmp13
matrix metallopeptidase 13
ISO
ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia
ClinVar
NCBI chr 8:4,497,960...4,508,239
Ensembl chr 8:4,497,960...4,508,239
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Rpl13
ribosomal protein L13
ISO
ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia
ClinVar
PMID:23956136 PMID:25741868 PMID:31630789
NCBI chr19:51,153,990...51,156,541
Ensembl chr19:51,153,924...51,163,014
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Arhgef39
Rho guanine nucleotide exchange factor 39
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia
ClinVar
PMID:28492532
NCBI chr 5:57,752,509...57,756,079
Ensembl chr 5:57,752,509...57,756,109
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Arid3c
AT-rich interaction domain 3C
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia
ClinVar
PMID:28492532
NCBI chr 5:56,889,649...56,896,959
Ensembl chr 5:56,890,042...56,895,888
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Atosb
atos homolog B
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia
ClinVar
PMID:28492532
NCBI chr 5:57,260,839...57,274,524
Ensembl chr 5:57,260,841...57,268,892
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Car9
carbonic anhydrase 9
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia
ClinVar
PMID:28492532
NCBI chr 5:57,763,234...57,769,838
Ensembl chr 5:57,763,206...57,769,838
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Ccdc107
coiled-coil domain containing 107
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia
ClinVar
PMID:8034306 PMID:9156319 PMID:10026268 PMID:11207361 PMID:11940090 PMID:12107819 PMID:12888988 PMID:14569119 PMID:16097009 PMID:16254002 PMID:16838329 PMID:17701897 PMID:25741868 PMID:28094436 PMID:28492532 More...
NCBI chr 5:57,749,502...57,752,920
Ensembl chr 5:57,748,999...57,752,918
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Ccin
calicin
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia
ClinVar
PMID:28492532
NCBI chr 5:58,206,676...58,208,563
Ensembl chr 5:58,206,633...58,208,951
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Ccl19
C-C motif chemokine ligand 19
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia
ClinVar
PMID:28492532
NCBI chr 5:56,963,364...56,965,308
Ensembl chr 5:56,963,364...56,965,308
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Ccl21
C-C motif chemokine ligand 21
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia
ClinVar
PMID:28492532
NCBI chr 5:56,980,557...56,981,661
Ensembl chr 5:56,980,558...56,981,686
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Ccl27
C-C motif chemokine ligand 27
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia
ClinVar
PMID:28492532
NCBI chr 5:56,941,402...56,948,511
Ensembl chr 5:56,941,402...56,948,506
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Cd72
Cd72 molecule
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia
ClinVar
PMID:28492532
NCBI chr 5:57,697,361...57,704,980
Ensembl chr 5:57,697,367...57,704,725
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Cimip2b
ciliary microtubule inner protein 2B
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia
ClinVar
PMID:28492532
NCBI chr 5:57,675,537...57,680,133
Ensembl chr 5:57,675,462...57,678,611
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Clta
clathrin, light chain A
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia
ClinVar
PMID:28492532
NCBI chr 5:58,244,253...58,263,480
Ensembl chr 5:58,245,442...58,263,472
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Cntfr
ciliary neurotrophic factor receptor
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia
ClinVar
PMID:28492532
NCBI chr 5:56,823,448...56,861,049
Ensembl chr 5:56,823,965...56,841,392
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Creb3
cAMP responsive element binding protein 3
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia
ClinVar
PMID:28492532
NCBI chr 5:57,817,865...57,823,233
Ensembl chr 5:57,817,832...57,824,390
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Dctn3
dynactin subunit 3
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia
ClinVar
PMID:28492532
NCBI chr 5:56,881,085...56,889,041
Ensembl chr 5:56,881,085...56,889,102
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Dnai1
dynein, axonemal, intermediate chain 1
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia
ClinVar
PMID:28492532
NCBI chr 5:56,730,179...56,800,926
Ensembl chr 5:56,730,179...56,800,925
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Dnajb5
DnaJ heat shock protein family (Hsp40) member B5
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia
ClinVar
PMID:28492532
NCBI chr 5:57,176,840...57,186,067
Ensembl chr 5:57,176,845...57,185,490
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Enho
energy homeostasis associated
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia
ClinVar
PMID:28492532
NCBI chr 5:56,800,980...56,802,777
Ensembl chr 5:56,800,980...56,802,777
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Fam219a
family with sequence similarity 219, member A
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia
ClinVar
PMID:28492532
NCBI chr 5:56,679,272...56,729,959
Ensembl chr 5:56,680,613...56,729,924
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Fam221b
family with sequence similarity 221, member B
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia
ClinVar
PMID:28492532
NCBI chr 5:57,910,346...57,919,562
Ensembl chr 5:57,910,352...57,919,367
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Fancg
FA complementation group G
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia
ClinVar
PMID:28492532
NCBI chr 5:57,230,287...57,240,067
Ensembl chr 5:57,231,685...57,240,029
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Galt
galactose-1-phosphate uridylyltransferase
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia
ClinVar
PMID:28492532
NCBI chr 5:56,927,039...56,930,284
Ensembl chr 5:56,926,724...56,930,265
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Gba2
glucosylceramidase beta 2
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia
ClinVar
PMID:28492532
NCBI chr 5:57,822,389...57,834,522
Ensembl chr 5:57,822,389...57,834,072
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Glipr2
GLI pathogenesis-related 2
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia
ClinVar
PMID:28492532
NCBI chr 5:58,170,417...58,202,258
Ensembl chr 5:58,170,425...58,202,272
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Gne
glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia
ClinVar
PMID:28492532
NCBI chr 5:58,267,189...58,307,396
Ensembl chr 5:58,267,210...58,307,499
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Hint2
histidine triad nucleotide binding protein 2
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia
ClinVar
PMID:28492532
NCBI chr 5:57,904,613...57,906,868
Ensembl chr 5:57,904,614...57,907,097
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Hrct1
histidine rich carboxyl terminus 1
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia
ClinVar
PMID:28492532
NCBI chr 5:57,982,344...57,983,186
Ensembl chr 5:57,982,470...57,982,790
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Il11ra1
interleukin 11 receptor subunit alpha 1
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia
ClinVar
PMID:28492532
NCBI chr 5:56,931,824...56,941,408
Ensembl chr 5:56,935,516...56,941,408
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Msmp
microseminoprotein, prostate associated
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia
ClinVar
PMID:28492532
NCBI chr 5:57,838,935...57,839,985
Ensembl chr 5:57,838,935...57,839,985
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Myorg
myogenesis regulating glycosidase
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia
ClinVar
PMID:28492532
NCBI chr 5:56,654,257...56,664,467
Ensembl chr 5:56,648,643...56,664,440
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Npr2
natriuretic peptide receptor 2
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia
ClinVar
PMID:28492532
NCBI chr 5:57,883,171...57,901,590
Ensembl chr 5:57,883,171...57,901,580
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Or13c7
olfactory receptor family 13 subfamily C member 7
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia
ClinVar
PMID:28492532
NCBI chr 5:58,081,150...58,082,109
Ensembl chr 5:58,077,726...58,083,852
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Or13j1
olfactory receptor family 13 subfamily J member 1
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia
ClinVar
PMID:28492532
NCBI chr 5:57,961,391...57,962,329
Ensembl chr 5:57,960,219...57,965,853
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Phf24
PHD finger protein 24
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia
ClinVar
PMID:28492532
NCBI chr 5:57,143,428...57,171,054
Ensembl chr 5:57,142,632...57,168,497
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Pigo
phosphatidylinositol glycan anchor biosynthesis, class O
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia
ClinVar
PMID:28492532
NCBI chr 5:57,244,721...57,256,252
Ensembl chr 5:57,245,166...57,254,146
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Reck
reversion-inducing-cysteine-rich protein with kazal motifs
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia
ClinVar
PMID:28492532
NCBI chr 5:58,102,961...58,169,516
Ensembl chr 5:58,102,981...58,169,502
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Rgp1
RGP1 homolog, RAB6A GEF complex partner 1
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia
ClinVar
PMID:28492532
NCBI chr 5:57,834,467...57,843,087
Ensembl chr 5:57,834,629...57,843,086
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Rpp25l
ribonuclease P/MRP subunit p25 like
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia
ClinVar
PMID:28492532
NCBI chr 5:56,878,420...56,879,956
Ensembl chr 5:56,876,316...56,880,013
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Rusc2
RUN and SH3 domain containing 2
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia
ClinVar
PMID:28492532
NCBI chr 5:57,628,397...57,675,524
Ensembl chr 5:57,629,904...57,675,524
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Sigmar1
sigma non-opioid intracellular receptor 1
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia
ClinVar
PMID:28492532
NCBI chr 5:56,904,155...56,907,012
Ensembl chr 5:56,904,159...56,907,017
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Sit1
signaling threshold regulating transmembrane adaptor 1
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia
ClinVar
PMID:28492532
NCBI chr 5:57,740,212...57,741,838
Ensembl chr 5:57,740,218...57,741,838
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Spaar
small regulatory polypeptide of amino acid response
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia
ClinVar
PMID:28492532
NCBI chr 5:57,985,423...57,987,482
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Spag8
sperm associated antigen 8
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia
ClinVar
PMID:28492532
NCBI chr 5:57,901,681...57,903,894
Ensembl chr 5:57,901,682...57,903,894
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Spata31f1
SPATA31 subfamily F member 1
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia
ClinVar
PMID:28492532
NCBI chr 5:57,065,743...57,071,880
Ensembl chr 5:57,065,747...57,071,738
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Spata31f3
SPATA31 subfamily F member 3
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia
ClinVar
PMID:28492532
NCBI chr 5:57,087,305...57,093,191
Ensembl chr 5:57,087,320...57,093,164
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Spata31g1
SPATA31 subfamily G member 1
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia
ClinVar
PMID:28492532
NCBI chr 5:57,199,980...57,204,069
Ensembl chr 5:57,200,000...57,204,070
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Spmip6
sperm microtubule inner protein 6
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia
ClinVar
PMID:28492532
NCBI chr 5:56,666,160...56,678,865
Ensembl chr 5:56,666,058...56,678,923
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Stoml2
stomatin like 2
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia
ClinVar
PMID:28492532
NCBI chr 5:57,256,227...57,259,824
Ensembl chr 5:57,256,220...57,259,920
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Tesk1
testis associated actin remodelling kinase 1
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia
ClinVar
PMID:28492532
NCBI chr 5:57,691,922...57,697,698
Ensembl chr 5:57,691,969...57,697,698
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Tln1
talin 1
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia
ClinVar
PMID:28492532
NCBI chr 5:57,787,670...57,817,900
Ensembl chr 5:57,787,943...57,817,900
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Tmem8b
transmembrane protein 8B
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia
ClinVar
PMID:28492532
NCBI chr 5:57,919,473...57,948,419
Ensembl chr 5:57,919,804...57,946,772
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Tpm2
tropomyosin 2
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia
ClinVar
PMID:28492532
NCBI chr 5:57,770,919...57,780,278
Ensembl chr 5:57,770,864...57,779,992
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Unc13b
unc-13 homolog B
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia
ClinVar
PMID:28492532
NCBI chr 5:57,288,999...57,504,110
Ensembl chr 5:57,289,227...57,502,926
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Vcp
valosin-containing protein
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia
ClinVar
PMID:28492532
NCBI chr 5:57,210,167...57,229,571
Ensembl chr 5:57,210,168...57,229,571
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Ccdc107
coiled-coil domain containing 107
ISO
ClinVar Annotator: match by term: Spondylometaepiphyseal dysplasia Menger type
ClinVar
PMID:8034306 PMID:9156319 PMID:10026268 PMID:11207361 PMID:11940090 PMID:12107819 PMID:12888988 PMID:14569119 PMID:16097009 PMID:16254002 PMID:16838329 PMID:17701897 PMID:25741868 PMID:28094436 PMID:28492532 More...
NCBI chr 5:57,749,502...57,752,920
Ensembl chr 5:57,748,999...57,752,918
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Pop1
POP1 homolog, ribonuclease P/MRP subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 7:65,705,348...65,733,143
Ensembl chr 7:65,705,368...65,733,141
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Pop1
POP1 homolog, ribonuclease P/MRP subunit
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia 2 | ClinVar Annotator: match by term: POP1-related condition
OMIM ClinVar
PMID:21455487 PMID:21534943 PMID:25741868 PMID:27380734 PMID:28067412 PMID:28492532 PMID:30408610 More...
NCBI chr 7:65,705,348...65,733,143
Ensembl chr 7:65,705,368...65,733,141
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Nepro
nucleolus and neural progenitor protein
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia 3
OMIM ClinVar
PMID:25741868 PMID:26633546 PMID:29620724 PMID:31250547
NCBI chr11:55,958,265...55,970,432
Ensembl chr11:55,958,267...55,970,432
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Dym
dymeclin
ISO
ClinVar Annotator: match by term: Dyggve-Melchior-Clausen syndrome CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:12161821 PMID:12491225 PMID:12554689 PMID:16097008 PMID:16199547 PMID:18996921 PMID:22090722 PMID:25741868 PMID:28492532 PMID:29620724 PMID:32886330 More...
NCBI chr18:68,605,131...68,900,905
Ensembl chr18:68,605,185...68,900,903
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Pisd
phosphatidylserine decarboxylase
ISO
ClinVar Annotator: match by term: Liberfarb syndrome | ClinVar Annotator: match by term: PISD-related mitochondrial disease
OMIM ClinVar
PMID:3561949 PMID:25741868 PMID:28492532 PMID:30488656 PMID:30858161 PMID:31263216 More...
NCBI chr14:77,941,927...77,991,021
Ensembl chr14:77,941,948...77,991,003
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Trpv4
transient receptor potential cation channel, subfamily V, member 4
ISO
ClinVar Annotator: match by term: Metatropic dwarfism | ClinVar Annotator: match by term: Metatropic dysplasia CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:4056805 PMID:6628444 PMID:8179305 PMID:14755468 PMID:17879966 PMID:18587396 PMID:19232556 PMID:19661060 PMID:19666518 PMID:20037586 PMID:20037587 PMID:20037588 PMID:20104247 PMID:20425821 PMID:20460441 PMID:20503319 PMID:20577006 PMID:21288981 PMID:21336783 PMID:21454511 PMID:21573172 PMID:21658220 PMID:21964574 PMID:21964829 PMID:22419508 PMID:22689196 PMID:22702953 PMID:22791502 PMID:22851605 PMID:24575025 PMID:24577120 PMID:24789864 PMID:24830047 PMID:24963089 PMID:25256292 PMID:25703509 PMID:25741868 PMID:25900305 PMID:26110311 PMID:26170305 PMID:26249260 PMID:26377240 PMID:26392352 PMID:26467025 PMID:26948711 PMID:27530454 PMID:27751652 PMID:28251916 PMID:28492532 PMID:28687525 PMID:28898540 PMID:29776788 PMID:29858556 PMID:30230566 PMID:30373780 PMID:31475037 PMID:32376792 PMID:32381727 PMID:34008892 PMID:34529350 More...
NCBI chr12:41,938,533...41,977,517
Ensembl chr12:41,938,560...41,977,517
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Smarcal1
Swi/SNF related matrix associated, actin dependent regulator of chromatin, subfamily a-like 1
ISO ISS
DNA:mutations:multiple (human) ClinVar Annotator: match by term: Schimke immuno-osseous dysplasia OMIM:242900 CTD Direct Evidence: marker/mechanism
ClinVar MouseDO CTD OMIM RGD
PMID:9536098 PMID:11799392 PMID:12471207 PMID:15523612 PMID:15880370 PMID:15884045 PMID:16199547 PMID:16237566 PMID:16840568 PMID:17089404 PMID:17576681 PMID:18805831 PMID:18974355 PMID:19127206 PMID:19793864 PMID:20179009 PMID:20301550 PMID:21914180 PMID:22998683 PMID:23359635 PMID:23671665 PMID:24197801 PMID:24589093 PMID:25349199 PMID:25640679 PMID:25741868 PMID:25748404 PMID:25943327 PMID:26089390 PMID:26195148 PMID:26499378 PMID:26633542 PMID:27577878 PMID:28204945 PMID:28492532 PMID:28780565 PMID:28796785 PMID:28844315 PMID:29127259 PMID:29282041 PMID:29802247 PMID:30026777 PMID:30295827 PMID:30586318 PMID:30635151 PMID:30687093 PMID:30784191 PMID:31039288 PMID:31275356 PMID:32393263 PMID:32499645 PMID:32604935 PMID:33203071 PMID:33532864 PMID:11799392 More...
RGD:1599053
NCBI chr 9:74,239,718...74,286,156
Ensembl chr 9:74,240,241...74,286,146
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Dym
dymeclin
ISO ISS
ClinVar Annotator: match by term: Smith-McCort dysplasia CTD Direct Evidence: marker/mechanism
ClinVar MouseDO CTD
PMID:25741868 PMID:28492532
NCBI chr18:68,605,131...68,900,905
Ensembl chr18:68,605,185...68,900,903
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Rab33b
RAB33B, member RAS oncogene family
ISO
ClinVar Annotator: match by term: Smith-McCort dysplasia
ClinVar
NCBI chr 2:135,528,116...135,538,719
Ensembl chr 2:135,528,116...135,538,719
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Dym
dymeclin
ISO
ClinVar Annotator: match by term: DYM-related condition | ClinVar Annotator: match by term: Smith-McCort dysplasia 1
ClinVar OMIM
PMID:12491225 PMID:16097008 PMID:18996921 PMID:19005420 PMID:25741868 PMID:28492532 More...
NCBI chr18:68,605,131...68,900,905
Ensembl chr18:68,605,185...68,900,903
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Rab33b
RAB33B, member RAS oncogene family
ISO ISS
OMIM:615222 ClinVar Annotator: match by term: Smith-McCort dysplasia 2
OMIM MouseDO ClinVar
PMID:16470731 PMID:22652534 PMID:23042644 PMID:25741868 PMID:28127940 PMID:28492532 More...
NCBI chr 2:135,528,116...135,538,719
Ensembl chr 2:135,528,116...135,538,719
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B3galt6
Beta-1,3-galactosyltransferase 6
ISO
ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia with joint laxity
ClinVar
PMID:23664117 PMID:25741868 PMID:28492532
NCBI chr 5:166,584,202...166,586,338
Ensembl chr 5:166,584,202...166,586,338
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Polr1c
RNA polymerase I and III subunit C
ISO
ClinVar Annotator: match by term: Primary bone dysplasia with multiple joint dislocations
ClinVar
PMID:35325049
NCBI chr 9:14,735,740...14,739,852
Ensembl chr 9:14,735,714...14,739,852
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Slc35b2
solute carrier family 35 member B2
ISO
ClinVar Annotator: match by term: Primary bone dysplasia with multiple joint dislocations
ClinVar
PMID:35325049
NCBI chr 9:15,438,594...15,442,227
Ensembl chr 9:15,438,594...15,442,234
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B3galt6
Beta-1,3-galactosyltransferase 6
ISO
ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with fractures | ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:23664117 PMID:23664118 PMID:24766538 PMID:25741868 PMID:27023906 PMID:28492532 PMID:29443383 PMID:29620724 PMID:32761602 PMID:33631843 PMID:34529350 PMID:35726512 More...
NCBI chr 5:166,584,202...166,586,338
Ensembl chr 5:166,584,202...166,586,338
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Sdf4
stromal cell derived factor 4
ISO
ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures
ClinVar
PMID:28492532
NCBI chr 5:166,586,581...166,606,661
Ensembl chr 5:166,586,390...166,604,521
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Tnfrsf4
TNF receptor superfamily member 4
ISO
ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures
ClinVar
PMID:28492532
NCBI chr 5:166,606,909...166,609,599
Ensembl chr 5:166,606,909...166,609,599
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Kif22
kinesin family member 22
ISO
ClinVar Annotator: match by term: KIF22-related condition | ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia with multiple dislocations
OMIM ClinVar
PMID:12727876 PMID:19277648 PMID:22152677 PMID:22152678 PMID:25256152 PMID:25741868 PMID:28492532 PMID:32860008 More...
NCBI chr 1:181,635,347...181,650,351
Ensembl chr 1:181,635,183...181,650,401
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Exoc6b
exocyst complex component 6B
ISO
ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia with joint laxity, type 3
OMIM ClinVar
PMID:25741868 PMID:26669664 PMID:30284759
NCBI chr 4:117,094,741...117,550,221
Ensembl chr 4:117,094,741...117,550,180
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Matn3
matrilin 3
ISO
ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia Matrilin-3 related | ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, MATN3-related CTD Direct Evidence: marker/mechanism
ClinVar CTD OMIM
PMID:14729835 PMID:15121775 PMID:15459972 PMID:20301302 PMID:21965141 PMID:25741868 PMID:28492532 PMID:31724101 More...
NCBI chr 6:31,748,517...31,768,564
Ensembl chr 6:31,748,474...31,768,101
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Cfap96
cilia and flagella associated protein 96
ISO
ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, di rocco type
ClinVar
PMID:25741868
NCBI chr16:46,291,075...46,315,616
Ensembl chr16:46,291,311...46,315,625
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Ufsp2
UFM1-specific peptidase 2
ISO
ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, di rocco type
OMIM ClinVar
PMID:21228277 PMID:25741868 PMID:28892125 PMID:32755715
NCBI chr16:46,272,016...46,291,080
Ensembl chr16:46,272,016...46,291,059
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Rspry1
ring finger and SPRY domain containing 1
ISO
ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type
OMIM ClinVar
PMID:25741868 PMID:26365341 PMID:28492532 PMID:30063090
NCBI chr19:10,352,449...10,403,015
Ensembl chr19:10,353,821...10,401,102
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Nans
N-acetylneuraminate synthase
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, Genevieve type
OMIM CTD ClinVar
PMID:15726110 PMID:25741868 PMID:27213289 PMID:28492532 PMID:34163424
NCBI chr 5:60,780,441...60,797,583
Ensembl chr 5:60,780,392...60,814,950
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Trim14
tripartite motif-containing 14
ISO
ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, Genevieve type
ClinVar
PMID:15726110 PMID:25741868 PMID:27213289 PMID:28492532 PMID:34163424
NCBI chr 5:60,800,568...60,824,858
Ensembl chr 5:60,800,032...60,824,858
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Eri1
exoribonuclease 1
ISO
ClinVar Annotator: match by term: ERI1-associated disorder | ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, Guo-Campeau type
OMIM ClinVar
PMID:25741868 PMID:37352860
NCBI chr16:56,724,101...56,744,228
Ensembl chr16:56,724,115...56,744,226
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Rpl13
ribosomal protein L13
ISO
ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, Isidor-Toutain type
OMIM ClinVar
PMID:23956136 PMID:25741868 PMID:28492532 PMID:31630789
NCBI chr19:51,153,990...51,156,541
Ensembl chr19:51,153,924...51,163,014
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Sik3
SIK family kinase 3
ISO
ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, Krakow type
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:30232230
NCBI chr 8:46,312,253...46,522,444
Ensembl chr 8:46,311,989...46,522,444
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Mmp13
matrix metallopeptidase 13
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: MMP13-related condition | ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, Missouri type
OMIM CTD ClinVar
PMID:8412645 PMID:16167086 PMID:25741868 PMID:28492532 PMID:30439533
NCBI chr 8:4,497,960...4,508,239
Ensembl chr 8:4,497,960...4,508,239
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Papss2
3'-phosphoadenosine 5'-phosphosulfate synthase 2
ISO ISS
ClinVar Annotator: match by term: BRACHYOLMIA TYPE 4 WITH MILD EPIPHYSEAL AND METAPHYSEAL CHANGES | ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, pakistani type OMIM:612847 CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD
PMID:9536098 PMID:9714015 PMID:9771708 PMID:16199547 PMID:17576681 PMID:19474428 PMID:22791835 PMID:23633440 PMID:23824674 PMID:24033266 PMID:25326635 PMID:25594860 PMID:25741868 PMID:27544198 PMID:28492532 PMID:31313512 More...
NCBI chr 1:230,454,314...230,539,332
Ensembl chr 1:230,454,426...230,539,331
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Ddrgk1
DDRGK domain containing 1
ISO
ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, Shohat type
OMIM ClinVar
PMID:8357004 PMID:25741868 PMID:28263186 PMID:28492532
NCBI chr 3:117,861,916...117,882,680
Ensembl chr 3:117,861,653...117,882,680
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Tonsl
tonsoku-like, DNA repair protein
ISO
ClinVar Annotator: match by term: Sponastrime dysplasia | ClinVar Annotator: match by term: TONSL-related condition
OMIM ClinVar
PMID:9536098 PMID:10797420 PMID:17576681 PMID:25741868 PMID:28492532 PMID:30773277 PMID:30773278 More...
NCBI chr 7:108,345,704...108,360,792
Ensembl chr 7:108,346,047...108,360,750
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Col2a1
collagen type II alpha 1 chain
ISO
ClinVar Annotator: match by term: SMED Strudwick type | ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, Strudwick type | ClinVar Annotator: match by term: Spondylometaphyseal dysplasia CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:1905723 PMID:7550321 PMID:7695699 PMID:7977371 PMID:8218237 PMID:8423604 PMID:8486375 PMID:8702139 PMID:8723096 PMID:8893763 PMID:9016532 PMID:15895462 PMID:16088915 PMID:17078022 PMID:17347327 PMID:17509551 PMID:18272325 PMID:18276201 PMID:19344236 PMID:25504618 PMID:25592122 PMID:25604898 PMID:25741868 PMID:25741869 PMID:26037341 PMID:26377240 PMID:26467025 PMID:26626311 PMID:28492532 PMID:30138938 PMID:30792901 PMID:33249554 PMID:34008892 PMID:34394176 More...
NCBI chr 7:129,098,489...129,127,560
Ensembl chr 7:129,098,786...129,127,546
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Fn1
fibronectin 1
ISO
ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, Strudwick type | ClinVar Annotator: match by term: Spondylometaphyseal dysplasia
ClinVar
PMID:1677003 PMID:15666313 PMID:25741868 PMID:28492532 PMID:29100092 PMID:30599297 PMID:32200603 PMID:33605604 More...
NCBI chr 9:73,196,044...73,264,695
Ensembl chr 9:73,196,044...73,264,678
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Trpv4
transient receptor potential cation channel, subfamily V, member 4
ISO
ClinVar Annotator: match by term: Spondylometaphyseal dysplasia
ClinVar
PMID:28492532
NCBI chr12:41,938,533...41,977,517
Ensembl chr12:41,938,560...41,977,517
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Ddr2
discoidin domain receptor tyrosine kinase 2
ISO
ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:8434618 PMID:8818447 PMID:11375938 PMID:19110212 PMID:20223752 PMID:25741868 PMID:28492532 PMID:29884795 PMID:29904280 PMID:32381727 More...
NCBI chr13:82,193,623...82,318,229
Ensembl chr13:82,195,463...82,317,363
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Abcd1
ATP binding cassette subfamily D member 1
ISO
ClinVar Annotator: match by term: X-linked spondyloepimetaphyseal dysplasia
ClinVar
PMID:7825602 PMID:7849723 PMID:8040304 PMID:8651290 PMID:9088111 PMID:9195223 PMID:9553942 PMID:10190819 PMID:12175782 PMID:14767898 PMID:15192815 PMID:15800013 PMID:15811009 PMID:16087056 PMID:17285533 PMID:20195870 PMID:20661612 PMID:21068741 PMID:21700483 PMID:21966424 PMID:23419472 PMID:23566833 PMID:25741868 PMID:26260157 PMID:26454440 PMID:27928321 PMID:28492532 More...
NCBI chr X:151,428,334...151,450,115
Ensembl chr X:151,428,578...151,450,115
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Bgn
biglycan
ISO
ClinVar Annotator: match by term: X-linked spondyloepimetaphyseal dysplasia CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:8064814 PMID:25741868 PMID:27236923 PMID:28492532
NCBI chr X:151,197,296...151,209,458
Ensembl chr X:151,197,273...151,209,461
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Aifm1
apoptosis inducing factor, mitochondria associated 1
ISO
ClinVar Annotator: match by term: SEMD X-linked with mental deterioration | ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:10486082 PMID:16924009 PMID:23239615 PMID:25741868 PMID:27102849 PMID:28492532 PMID:28842795 More...
NCBI chr X:127,650,223...127,689,356
Ensembl chr X:127,650,226...127,689,256
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Rab33a
RAB33A, member RAS oncogene family
ISO
ClinVar Annotator: match by term: SEMD X-linked with mental deterioration | ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy
ClinVar
PMID:10486082 PMID:16924009 PMID:23239615 PMID:25741868 PMID:27102849 PMID:28492532 PMID:28842795 More...
NCBI chr X:127,694,219...127,706,378
Ensembl chr X:127,694,964...127,706,378
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all
Path 1
disease
18976
Developmental Disease
14397
bone development disease
2307
osteochondrodysplasia
861
spondyloepimetaphyseal dysplasia
88
Dyggve-Melchior-Clausen disease +
2
Liberfarb Syndrome
1
SPONDYLOEPIMETAPHYSEAL DYSPLASIA, DI ROCCO TYPE
2
Schimke immuno-osseous dysplasia
1
Spondyloepimetaphyseal Dysplasia with Abnormal Dentition
0
Spondyloepimetaphyseal Dysplasia with Hypotrichosis
0
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
1
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
1
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type
1
Spondyloepimetaphyseal Dysplasia, Irapa Type
0
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
1
Spondyloepimetaphyseal Dysplasia, Krakow Type
1
Spondyloepimetaphyseal Dysplasia, Shohat Type
1
X-linked spondyloepimetaphyseal dysplasia +
4
anauxetic dysplasia +
56
metatropic dysplasia
1
spondyloepimetaphyseal dysplasia with joint laxity +
7
spondyloepimetaphyseal dysplasia, Genevieve-type
2
spondyloepimetaphyseal dysplasia, Missouri type
1
spondyloepimetaphyseal dysplasia, Pakistani type
1
spondyloepimetaphyseal dysplasia, Sponastrime type
1
spondyloepimetaphyseal dysplasia, Strudwick type
3
spondylometaepiphyseal dysplasia, short limb-hand type
1
Path 2
disease
18976
disease of anatomical entity
18260
musculoskeletal system disease
8304
connective tissue disease
5786
bone disease
4302
bone development disease
2307
osteochondrodysplasia
861
spondyloepimetaphyseal dysplasia
88
Dyggve-Melchior-Clausen disease +
2
Liberfarb Syndrome
1
SPONDYLOEPIMETAPHYSEAL DYSPLASIA, DI ROCCO TYPE
2
Schimke immuno-osseous dysplasia
1
Spondyloepimetaphyseal Dysplasia with Abnormal Dentition
0
Spondyloepimetaphyseal Dysplasia with Hypotrichosis
0
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
1
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
1
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type
1
Spondyloepimetaphyseal Dysplasia, Irapa Type
0
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
1
Spondyloepimetaphyseal Dysplasia, Krakow Type
1
Spondyloepimetaphyseal Dysplasia, Shohat Type
1
X-linked spondyloepimetaphyseal dysplasia +
4
anauxetic dysplasia +
56
metatropic dysplasia
1
spondyloepimetaphyseal dysplasia with joint laxity +
7
spondyloepimetaphyseal dysplasia, Genevieve-type
2
spondyloepimetaphyseal dysplasia, Missouri type
1
spondyloepimetaphyseal dysplasia, Pakistani type
1
spondyloepimetaphyseal dysplasia, Sponastrime type
1
spondyloepimetaphyseal dysplasia, Strudwick type
3
spondylometaepiphyseal dysplasia, short limb-hand type
1