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Details
Link-It Detail - Disease - DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, AND MENTAL RETARDATION SYNDROME
Debug Stats
  • ### Total Build Time: 78 ms 15.302 KB
  • CONCEPT_NAME gt=4 ms Completed: 4 ms rowSize= 446 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • Skipping details on: CONCEPT_DEFINITION gt=NONE 0 Completed: 0 ms rowSize= 0 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=1 ms Completed: 1 ms rowSize= 14 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=0 Completed: 0 ms rowSize= 7 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 15 bytes
  • CONCEPT_RELATIONSHIPS gt=62 ms Completed: 62 ms rowSize= 12.076 KB
  • CONCEPT_GENES gt=7 ms Completed: 7 ms rowSize= 1.513 KB
  • CONCEPT_XREFS gt=3 ms Completed: 3 ms rowSize= 1.207 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, AND MENTAL RETARDATION SYNDROME C1857345
Relationships (26)

Relation Types:
diso_​to_​diso : 26


Relationships:
alias_​of : 1
manifestation_​of : 25
Page Size
Current 25
  Page 1 of 2
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISOmanifestation_ofimg Anteverted nares C1853244
DISO_to_DISOmanifestation_ofimg Blind Vision C0456909
DISO_to_DISOmanifestation_ofimg Broad nasal bridge C1864688
DISO_to_DISOmanifestation_ofimg Bulbous nasal tip C1855751
DISO_to_DISOmanifestation_ofimg Byzanthine arch palate C0240635
DISO_to_DISOmanifestation_ofimg Cataract C0086543
DISO_to_DISOmanifestation_ofimg Coarse facies C0239539
DISO_to_DISOmanifestation_ofimg Corners of mouth downturned C1866195
DISO_to_DISOalias_ofimg DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, AND MENTAL RETARDATION SYNDROME C1857345
DISO_to_DISOmanifestation_ofimg DOOR is acronym for deafness, onychodystrophy, osteodystrophy, and mental retardation C2673758
DISO_to_DISOmanifestation_ofimg Deafness, profound, sensorineural C1968896
DISO_to_DISOmanifestation_ofimg High myopia C0271183
DISO_to_DISOmanifestation_ofimg Increased serum and urinary 2-oxoglutarate C2673756
DISO_to_DISOmanifestation_ofimg Intellectual Disability C0025362
DISO_to_DISOmanifestation_ofimg Large nose C0426415
DISO_to_DISOmanifestation_ofimg Long philtrum C1865014
DISO_to_DISOmanifestation_ofimg Low set ears ICD10CM:Q17.4 C3276227
DISO_to_DISOmanifestation_ofimg Muscle Hypotonia C0026827
DISO_to_DISOmanifestation_ofimg Narrow bifrontal diameter C2235906
DISO_to_DISOmanifestation_ofimg Optic Atrophy C0029124
DISO_to_DISOmanifestation_ofimg Peripheral polyneuropathy C2673754
DISO_to_DISOmanifestation_ofimg Progressive disorder C1864985
DISO_to_DISOmanifestation_ofimg Seizures C0036572
DISO_to_DISOmanifestation_ofimg Small or absent distal phalanges C2673755
DISO_to_DISOmanifestation_ofimg Small or absent nails on the hands and feet C2673757
Genes (1)

Species:
human : 1
SpeciesGeneGeneIdGene NameEvidence
HumanOGDH4967oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)
img GENERIF, Score=861, Pubmed Id: 17343268, UMLKSK CUI: C1857345
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C1857345DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, AND MENTAL RETARDATION SYNDROME0self