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Details
Link-It Detail - Disease - POPLITEAL PTERYGIUM SYNDROME, LETHAL TYPE
Debug Stats
  • ### Total Build Time: 240 ms 16.701 KB
  • CONCEPT_NAME gt=1 ms Completed: 1 ms rowSize= 380 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=0 Completed: 0 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=1 ms Completed: 1 ms rowSize= 15 bytes
  • CONCEPT_RELATIONSHIPS gt=233 ms Completed: 233 ms rowSize= 12.268 KB
  • CONCEPT_GENES gt=4 ms Completed: 4 ms rowSize= 2.817 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.175 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
POPLITEAL PTERYGIUM SYNDROME, LETHAL TYPE C1849718
Relationships (49)

Relation Types:
diso_​to_​diso : 49


Relationships:
alias_​of : 1
manifestation_​of : 48
Page Size
Current 25
  Page 1 of 2
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISOmanifestation_ofimg Absence of nail C0600021
DISO_to_DISOmanifestation_ofimg Absent clitoris (in some patients) C3279357
DISO_to_DISOmanifestation_ofimg Absent eyebrows (in some patients) C3279365
DISO_to_DISOmanifestation_ofimg Absent eyelashes (in some patients) C3279366
DISO_to_DISOmanifestation_ofimg Alopecia totalis (in some patients) C3279384
DISO_to_DISOmanifestation_ofimg Ambiguities, Genital C0266362
DISO_to_DISOmanifestation_ofimg Ankyloblepharon filiforme C1387840
DISO_to_DISOmanifestation_ofimg Asymmetric nipples (in some patients) C3279359
DISO_to_DISOmanifestation_ofimg Axillary pterygium, bilateral (in some patients) C3279377
DISO_to_DISOmanifestation_ofimg Bony synostosis C3279373
DISO_to_DISOmanifestation_ofimg CL - Cleft lip C0008924
DISO_to_DISOmanifestation_ofimg Caused by mutation in the receptor-interacting serine-threonine kinase-4 gene (RIPK4, 605706.0001) C3279385
DISO_to_DISOmanifestation_ofimg Cleft Palate C0008925
DISO_to_DISOmanifestation_ofimg Cleft face C0685787
DISO_to_DISOmanifestation_ofimg Cloudy corneas (in some patients) C3279367
DISO_to_DISOmanifestation_ofimg Cryptorchidism, bilateral (in some patients) C3279358
DISO_to_DISOmanifestation_ofimg Cupped ears (in some patients) C3279364
DISO_to_DISOmanifestation_ofimg Eyelid colobomata (in some patients) C3279370
DISO_to_DISOmanifestation_ofimg Fetal Growth Retardation C0015934
DISO_to_DISOmanifestation_ofimg Filiform bands between mandible and maxilla C3279371
DISO_to_DISOmanifestation_ofimg Hypertelorism (in some patients) C3278417
DISO_to_DISOmanifestation_ofimg Hypoplasia of iliac wing (in some patients) C3279372
DISO_to_DISOmanifestation_ofimg Hypoplastic genitalia (in some patients) C3279356
DISO_to_DISOmanifestation_ofimg Hypoplastic labia majora C1858540
DISO_to_DISOmanifestation_ofimg Hypoplastic mandible (in some patients) C3279363
Genes (2)

Species:
human : 2
SpeciesGeneGeneIdGene NameEvidence
HumanDIO21734deiodinase, iodothyronine, type II
img GENERIF, Score=1000, Pubmed Id: 16140305, UMLKSK CUI: C1849718
HumanABCA119ATP-binding cassette, sub-family A (ABC1), member 1
img GENERIF, Score=861, Pubmed Id: 14576201, UMLKSK CUI: C1849718
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C1849718POPLITEAL PTERYGIUM SYNDROME, LETHAL TYPE0self