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HUMAN PHENOTYPE - ANNOTATIONS

The Human Phenotype Ontology (HPO) is downloaded weekly from http://compbio.charite.de/hudson/job/hpo/lastStableBuild/artifact/ontology/release/hp.obo. The file downloaded is considered the "last stable build" available for the ontology. For more about the HPO, view their website at http://www.human-phenotype-ontology.org/.
Term:Aplasia/Hypoplasia of the middle phalanges of the toes
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Accession:HP:0010194 term browser browse the term
Synonyms:exact_synonym: Absent/small middle bones of toe;   Absent/underdeveloped middle bones of toe
 xref: UMLS:C4023976


show annotations for term's descendants           Sort by:
Aplasia/Hypoplasia of the middle phalanges of the toes term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IHH Indian hedgehog signaling molecule IAGP HPO OMIM:112500 NCBI chr 2:219,054,424...219,060,921
Ensembl chr 2:219,054,424...219,060,921 		JBrowse link
G NOG noggin IAGP HPO OMIM:185800 OMIM:611377 NCBI chr17:56,593,699...56,595,611
Ensembl chr17:56,593,699...56,595,611 		JBrowse link
G RAB23 RAB23, member RAS oncogene family IAGP HPO OMIM:201000 NCBI chr 6:57,186,992...57,222,307
Ensembl chr 6:57,186,992...57,222,307 		JBrowse link
Absent middle phalanx of the 3rd toe term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EOGT EGF domain specific O-linked N-acetylglucosamine transferase IAGP HPO OMIM:615297 NCBI chr 3:68,975,225...69,013,684
Ensembl chr 3:68,975,217...69,013,684 		JBrowse link
Aplasia of the middle phalanx of the 4th toe term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EOGT EGF domain specific O-linked N-acetylglucosamine transferase IAGP HPO OMIM:615297 NCBI chr 3:68,975,225...69,013,684
Ensembl chr 3:68,975,217...69,013,684 		JBrowse link
Short middle phalanx of the 5th toe term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NOG noggin IAGP HPO OMIM:186500 NCBI chr17:56,593,699...56,595,611
Ensembl chr17:56,593,699...56,595,611 		JBrowse link
Short proximal phalanx of hallux term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FIG4 FIG4 phosphoinositide 5-phosphatase IAGP HPO ORPHA:3472 NCBI chr 6:109,691,296...109,825,426
Ensembl chr 6:109,690,609...109,878,098 		JBrowse link
G IHH Indian hedgehog signaling molecule IAGP HPO OMIM:112500 NCBI chr 2:219,054,424...219,060,921
Ensembl chr 2:219,054,424...219,060,921 		JBrowse link
G VAC14 VAC14 component of PIKFYVE complex IAGP HPO ORPHA:3472 NCBI chr16:70,687,439...70,801,158
Ensembl chr16:70,687,439...70,801,160 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 21554
    Phenotypic abnormality 21544
      Abnormality of limbs 2585
        Abnormality of the lower limb 1864
          Abnormal foot morphology 1536
            Aplasia/Hypoplasia involving bones of the feet 290
              Aplasia/Hypoplasia of the phalanges of the toes 29
                Aplasia/Hypoplasia of the middle phalanges of the toes 6
                  Aplasia/Hypoplasia of the middle phalanx of the 2nd toe + 0
                  Aplasia/Hypoplasia of the middle phalanx of the 3rd toe + 1
                  Aplasia/Hypoplasia of the middle phalanx of the 4th toe + 1
                  Aplasia/Hypoplasia of the middle phalanx of the 5th toe + 1
                  Aplasia/Hypoplasia of the proximal phalanx of the hallux + 3
Path 2
Term Annotations click to browse term
  Human phenotype 21554
    Phenotypic abnormality 21544
      Abnormality of the musculoskeletal system 4416
        Abnormality of the skeletal system 3652
          Abnormal skeletal morphology 3532
            Abnormal appendicular skeleton morphology 1997
              Abnormal limb bone morphology 1866
                Abnormal lower limb bone morphology 784
                  Aplasia/hypoplasia involving bones of the lower limbs 390
                    Aplasia/Hypoplasia involving bones of the feet 290
                      Aplasia/Hypoplasia of the phalanges of the toes 29
                        Aplasia/Hypoplasia of the middle phalanges of the toes 6
                          Aplasia/Hypoplasia of the middle phalanx of the 2nd toe + 0
                          Aplasia/Hypoplasia of the middle phalanx of the 3rd toe + 1
                          Aplasia/Hypoplasia of the middle phalanx of the 4th toe + 1
                          Aplasia/Hypoplasia of the middle phalanx of the 5th toe + 1
                          Aplasia/Hypoplasia of the proximal phalanx of the hallux + 3
paths to the root