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Details
Link-It Detail - Disease - Micrognathism
Debug Stats
  • ### Total Build Time: 18 ms 47.818 KB
  • CONCEPT_NAME gt=0 Completed: 0 ms rowSize= 324 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 412 bytes
  • Skipping details on: CONCEPT_SYNONYM gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • Skipping details on: CONCEPT_TEXT gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_SEMANTIC_TYPE gt=0 Completed: 0 ms rowSize= 191 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=0 Completed: 0 ms rowSize= 553 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 7.973 KB
  • CONCEPT_RELATIONSHIPS gt=1 ms Completed: 1 ms rowSize= 13.152 KB
  • CONCEPT_GENES gt=14 ms Completed: 14 ms rowSize= 24.065 KB
  • CONCEPT_XREFS gt=3 ms Completed: 3 ms rowSize= 1.147 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Micrognathism C0025990
Definition (1)
A congenital abnormality of the jaws (particularly the mandible) in which they are unusually small. This condition is not always pathological and may correct itself as the patient matures; however, it may also present as a birth defect in multiple syndromes.
Semantic Types (1)
Congenital Abnormality (T019)
Parents (1)
img Jaw Abnormalities C0022360
Ancestral Roots
RootRoot Plus OneDepthParent
img Stomatognathic Diseases C0038368img Jaw Diseases C00223624img Jaw Abnormalities C0022360
img Musculoskeletal Diseases C0026857img Jaw Diseases C00223624img Jaw Abnormalities C0022360
img Musculoskeletal Diseases C0026857img Musculoskeletal Abnormalities C01514916img Jaw Abnormalities C0022360
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Congenital Abnormalities C00007687img Jaw Abnormalities C0022360
img Stomatognathic Diseases C0038368img Stomatognathic System Abnormalities C02430575img Jaw Abnormalities C0022360
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Congenital Abnormalities C00007686img Jaw Abnormalities C0022360
Relationships (32)

Relation Types:
diso_​to_​anat : 8
diso_​to_​diso : 23
diso_​to_​phen : 1


Relationships:
none : 11
associated_​with : 1
is_​associated_​anatomic_​site_​of : 3
isa : 4
location_​of : 1
mapped_​to : 11
permuted_​term_​of : 1
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Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_ANAT30img Mandible C0024687
DISO_to_DISO25img Complication Aspects C1171258
DISO_to_ANAT23img Mandible C0024687
DISO_to_DISO23img Complication Aspects C1171258
DISO_to_ANAT18img Maxilla C0024947
DISO_to_ANAT13img Maxilla C0024947
DISO_to_DISO13img Abnormalities, Multiple C0000772
DISO_to_PHEN12img genetic aspects C0017399
DISO_to_DISO10img AIRWAY OBSTRUCTION C0001883
DISO_to_DISO10img Cleft Palate C0008925
DISO_to_DISO10img Sleep Apnea, Obstructive C0520679
DISO_to_ANATis_associated_anatomic_site_ofimg Head and neck structure C0460004
DISO_to_ANATlocation_ofimg Jaw C0022359
DISO_to_ANATis_associated_anatomic_site_ofimg Lip and Oral Cavity C1711367
DISO_to_ANATis_associated_anatomic_site_ofimg Mouth C0226896
DISO_to_DISOassociated_withimg 213 CONGENITAL HYPOPLASIAS C0020636
DISO_to_DISOmapped_toimg BIRD-HEADED DWARFISM, MONTREAL TYPE C1859468
DISO_to_DISOmapped_toimg Baetz-Greenwalt syndrome C2931615
DISO_to_DISOisaimg Brachygnathia C0424720
DISO_to_DISOisaimg CCM SYNDROME C0265342
DISO_to_DISOmapped_toimg CLEIDOCRANIAL DYSPLASIA WITH MICROGNATHIA, ABSENT THUMBS, AND DISTAL APHALANGIA C1857663
DISO_to_DISOmapped_toimg COFFIN-SIRIS SYNDROME C0265338
DISO_to_DISOmapped_toimg Conductive hearing loss, middle ear ossicular anomalies, malformed thickened lop auricles, and micrognathia C2931222
DISO_to_DISOisaimg Congenital hypoplasia of mandible C0266083
DISO_to_DISOisaimg Congenital maxillary hypoplasia C0266085
Genes (101)

Species:
human : 101
Page Size
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SpeciesGeneGeneIdGene NameEvidence
HumanD2HGDH728294D-2-hydroxyglutarate dehydrogenase
img OMIM, Score=1000, UMLKSK CUI: C0025990
HumanH19283120H19, imprinted maternally expressed transcript (non-protein coding)
img OMIM, Score=1000, UMLKSK CUI: C0025990
HumanHYLS1219844hydrolethalus syndrome 1
img OMIM, Score=1000, UMLKSK CUI: C0025990
HumanESCO2157570establishment of sister chromatid cohesion N-acetyltransferase 2
img OMIM, Score=1000, UMLKSK CUI: C0025990
HumanPUS180324pseudouridylate synthase 1
img OMIM, Score=1000, UMLKSK CUI: C0025990
HumanFKRP79147fukutin related protein
img OMIM, Score=1000, UMLKSK CUI: C0025990
HumanSTRA664220stimulated by retinoic acid 6
img OMIM, Score=1000, UMLKSK CUI: C0025990
HumanALG156052ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase
img OMIM, Score=1000, UMLKSK CUI: C0025990
HumanPEX2655670peroxisomal biogenesis factor 26
img OMIM, Score=1000, UMLKSK CUI: C0025990
HumanCHD755636chromodomain helicase DNA binding protein 7
img OMIM, Score=1000, UMLKSK CUI: C0025990
HumanPOMGNT155624protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
img OMIM, Score=1000, UMLKSK CUI: C0025990
HumanMKS154903Meckel syndrome, type 1
img OMIM, Score=1000, UMLKSK CUI: C0025990
HumanNIPBL25836Nipped-B homolog (Drosophila)
img OMIM, Score=1000, UMLKSK CUI: C0025990
HumanRAB3GAP225782RAB3 GTPase activating protein subunit 2 (non-catalytic)
img OMIM, Score=1000, UMLKSK CUI: C0025990
HumanZMPSTE2410269zinc metallopeptidase STE24
img OMIM, Score=1000, UMLKSK CUI: C0025990
HumanCD9610225CD96 molecule
img OMIM, Score=1000, UMLKSK CUI: C0025990
HumanPQBP110084polyglutamine binding protein 1
img OMIM, Score=1000, UMLKSK CUI: C0025990
HumanSEMA3E9723sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
img OMIM, Score=1000, UMLKSK CUI: C0025990
HumanADAMTS29509ADAM metallopeptidase with thrombospondin type 1 motif, 2
img OMIM, Score=1000, UMLKSK CUI: C0025990
HumanTBX49496T-box 4
img OMIM, Score=1000, UMLKSK CUI: C0025990
HumanRECQL49401RecQ protein-like 4
img OMIM, Score=1000, UMLKSK CUI: C0025990
HumanPEX38504peroxisomal biogenesis factor 3
img OMIM, Score=1000, UMLKSK CUI: C0025990
HumanGNPAT8443glyceronephosphate O-acyltransferase
img OMIM, Score=1000, UMLKSK CUI: C0025990
HumanPLA2G68398phospholipase A2, group VI (cytosolic, calcium-independent)
img OMIM, Score=1000, UMLKSK CUI: C0025990
HumanKDM5C8242lysine (K)-specific demethylase 5C
img OMIM, Score=1000, UMLKSK CUI: C0025990
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0025990Micrognathism0self