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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:Hydatidiform mole
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Accession:HP:0032192 term browser browse the term
Definition:Hydatidiform mole (HM) is an aberrant human pregnancy with absence of, or abnormal embryonic development, hydropic degeneration of chorionic villi, and excessive proliferation of the trophoblast.
Comment:The hydatidiform mole (HM) is a placental pathology of androgenetic origin. Placental villi have an abnormal hyperproliferation event and hydropic degeneration. Three situations can be envisaged at its origin: 1. The destruction/expulsion of the female pronucleus at the time of fertilization by 1 or 2 spermatozoa with the former being followed by an endoreplication of the male pronucleus leading to a complete hydatidiform mole (CHM) 2. A triploid zygote (fertilization by 2 spermatozoa) leading to a partial hydatidiform mole (PHM) but can also lead to haploid and diploid clones. The diploid clone may produce a normal fetus while the haploid clone after endoreplication generates a CHM 3. A nutritional defect during the differentiation of the oocytes or the deterioration of the limited oxygen pressure during the first trimester of gestation may lead to the formation of a HM.


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Hydatidiform mole term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KHDC3L KH domain containing 3 like, subcortical maternal complex member IAGP ClinVar Annotator: match by term: Hydatidiform mole ClinVar
HPO		 PMID:25741868 MIM:614293 NCBI chr 6:73,362,658...73,364,171
Ensembl chr 6:73,362,658...73,364,171 		JBrowse link
G MEI1 meiotic double-stranded break formation protein 1 IAGP HPO MIM:618431 NCBI chr22:41,699,503...41,799,454
Ensembl chr22:41,699,503...41,799,456 		JBrowse link
G NCR1 natural cytotoxicity triggering receptor 1 IAGP ClinVar Annotator: match by term: Hydatidiform mole ClinVar PMID:24033266 PMID:25741868 NCBI chr19:54,898,198...54,938,208
Ensembl chr19:54,906,148...54,916,140 		JBrowse link
G NLRP7 NLR family pyrin domain containing 7 IAGP ClinVar Annotator: match by term: Hydatidiform mole ClinVar
HPO		 PMID:19246479 PMID:24033266 PMID:25741868 MIM:231090 NCBI chr19:54,923,515...54,966,243
Ensembl chr19:54,923,509...54,966,312 		JBrowse link
G TOP6BL TOP6B like initiator of meiotic double strand breaks IAGP HPO MIM:618432 NCBI chr11:66,744,769...66,843,516
Ensembl chr11:66,744,451...66,843,516 		JBrowse link
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  Human phenotype 73835
    Phenotypic abnormality 73530
      Abnormality of prenatal development or birth 1206
        Abnormalities of placenta or umbilical cord 128
          Hydatidiform mole 5
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