#mapping_set_id: https://w3id.org/sssom/commons/mouse-human/mappings/mp_hp_mgi_all.sssom.tsv #mapping_set_title: All mappings of MP terms to HPO terms generated by MGI #mapping_set_description: "Consolidated list of all HPO to MP mappings done by MGI. In the comments section the project that was the source of the list is listed. Some terms came from more than one source. The KidsFirst list was a list of HPO terms provided by the KidsFirst team from the set of terms used for patients in their cohorts. The scoliosis, Alzheimer, cleft palate, Down Syndrome, CHARGE Syndrome, Cornelia De Lange Syndrome, and COVID term sets were generated by MGI for symptoms or phenotypes associated with the disease. For the COVID set the references for each sign or symptom are listed in the Other column. Initially the mapping dates for the KidsFirst mappings were not tracked, so these were given the date of when we received the file (5/27/21). The scoliosis, cleft palate, Down Syndrome, CHARGE Syndrome, and Cornelia De Lange Syndrome sets consist of MP terms that are associated with mouse models of scoliosis. For Down Syndrome, CHARGE Syndrome, and Cornelia De Lange Syndrome HPO terms associated with each disease were also pulled from the HPO files for mapping. The Alzheimer and COVID sets were created by identifying symptoms and signs for patients from the literature then identifying the relevant MP and HP terms and finally mapping the identified terms to terms in the other ontology. Use of skos mappings terms: exact match: MP term is the same as the HPO term, ignoring that the HP term applies only to humans; broad match: HPO term covers more than the MP term, ignoring the species restriction; narrow match: HPO term is more restricted than the MP term; related match: MP term and HPO term share some similarity but would not have a parent-child relation in a shared ontology." #creator_id: # - orcid:0000-0003-4606-0597 # - orcid:0000-0002-6490-7723 # - orcid:0000-0003-2307-1226 # - ror:021sy4w91 # - wikidata:Q1951035 #license: https://creativecommons.org/licenses/by/4.0/ #object_source: obo:hp #subject_source: obo:mp #curie_map: # HP: http://purl.obolibrary.org/obo/HP_ # MP: http://purl.obolibrary.org/obo/MP_ # skos: http://www.w3.org/2004/02/skos/core# # orcid: https://orcid.org/ # ror: https://ror.org/ # wikidata: https://www.wikidata.org/wiki/ # obo: http://purl.obolibrary.org/obo/ # semapv: https://w3id.org/semapv/vocab/ object_id object_label predicate_id confidence subject_id subject_label mapping_justification author_id mapping_date comment other HP:0000016 Urinary retention skos:exactMatch 1 MP:0003622 ischuria semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-08-02 scoliosis HP:0000023 Inguinal hernia skos:exactMatch 1 MP:0006077 inguinal hernia semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2021-05-27 KidsFirst HP:0000028 Cryptorchidism skos:exactMatch 1 MP:0002286 cryptorchism semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2021-05-27 KidsFirst HP:0000033 Ambiguous genitalia male skos:narrowMatch 1 MP:0009198 abnormal male genitalia morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-02-07 KidsFirst; existing annotations from J:15425, J:98554 annotations are scattered under various terms, https://github.com/mgijax/mammalian-phenotype-ontology/issues/3511 HP:0000034 Hydrocele testis skos:narrowMatch 1 MP:0003623 hydrocele semapv:ManualMappingCuration orcid:0000-0002-6490-7723 2021-05-27 KidsFirst; MP term does not specify clear fluid or where accumulation occurs (space between the layers of the tunica vaginalis) HP:0000039 Epispadias skos:exactMatch 1 MP:0003598 epispadia semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2022-09-02 KidsFirst; These will be exact once the change to the HP definition goes through. The MP term is also incorrectly placed under abnormal penis morphology MP:0005187. This parent term has been removed (see MP issue 3512) HP:0000041 Chordee skos:closeMatch 0.7 MP:0003555 chordee semapv:ManualMappingCuration orcid:0000-0002-6490-7723 2021-09-20 KidsFirst; The MP term definition for chordee MP:0003555 specifies acute angulation of the penis upon erection and places chordee under abnormal penile erection MP:0001379, unlike HPO which places Chordee HP:0000041 under Abnormal penis morphology HP:0000036 and provides details on the direction of bowing and degree of angulation. I think the match is therefore close and the MP term should be placed under both abnormal penile erection and morphology (see https://educalingo.com/en/dic-en/chordee) HP:0000047 Hypospadias skos:narrowMatch 1 MP:0003124 hypospadia semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2021-05-27 KidsFirst; The MP definition includes abnormal location of urethral opening in both males and females; hpo has just males so this is a broad match, Anna will create subterms for male and female HP:0000048 Bifid scrotum skos:exactMatch 1 MP:0003612 bifid scrotum semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-02-11 KidsFirst HP:0000049 Shawl scrotum skos:narrowMatch 1 MP:0002669 abnormal scrotum morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-02-11 KidsFirst; no relevant annotations in MGI HP:0000054 Micropenis skos:narrowMatch 1 MP:0005188 small penis semapv:ManualMappingCuration orcid:0000-0002-6490-7723 2021-05-27 KidsFirst; MP definition just refers to reduced size, does not specify penis length but uses microphallus and micropenis as exact synonyms. Also, EQ for HPO term uses hypoplastic rather than decreased size HP:0000070 Ureterocele skos:exactMatch 0.9 MP:0011767 ureterocele semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-08-10 KidsFirst; each definition has details that may or may not be essential to the differentia of the phenotype, checked Tabers and other sources and I think these are defining the same thing HP:0000074 Ureteropelvic junction obstruction skos:exactMatch 1 MP:0011491 ureteropelvic junction obstruction semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2021-05-27 KidsFirst HP:0000075 Renal duplication skos:narrowMatch 0.8 MP:0004017 duplex kidney semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-02-11 KidsFirst; MP term specifies that the kidney is split but there may or may not be duplication of the ureter, HPO definition specifies duplication of the kidney, renal pelvis and ureter. However, partial duplication of the kidney is a child of renal duplication so possibly the definition is overly restrictive? HP:0000077 Abnormality of the kidney skos:narrowMatch 1 MP:0005367 renal/urinary system phenotype semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2021-05-27 KidsFirst; In this case MP term not only includes normals but it also includes urinary system phenotypes in addition to kidney phenotypes HP:0000079 Abnormality of the urinary system skos:narrowMatch 1 MP:0005367 renal/urinary system phenotype semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-01-26 KidsFirst; Direct annotations to this term are for normal annotations but all children are abnormal HP:0000081 Duplicated collecting system skos:narrowMatch 0.6 MP:0011803 double kidney pelvis semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2021-09-30 KidsFirst; The MP does not have a term for renal collecting system but looking at the HPO definition of duplicated collecting system, in particulatr kidney with two (instead of, normally, one) pyelocaliceal systems. The pyelocaliceal system is comprised of the renal pelvis and calices. and the Uberon and MP organization of renal pelvis and renal calyx (calyx is part of pelvis), it seemed to me that the MP double pelvis term is as close as I could get. There may be some distinction I'm missing as the HPO has a term for Duplication of renal pelvis (HP:0005580) but it is unclear to me how this is distinct from duplicated collecting system. I'm guessing that the pelvis includes parts that are not part of the collecting system? Uberon has a term for renal collecting system (UBERON:0004100) defined as collecting duct system of the kidney consists of a series of tubules and ducts that connect the nephrons to the ureter and this has no connection to the renal pelvis and calyx. Given that the duplicated HP term specifies pelvis and calices I would have expected some connection. HP:0000083 Renal insufficiency skos:exactMatch 0.9 MP:0003606 kidney failure semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32489502 HP:0000085 Horseshoe kidney skos:narrowMatch 1 MP:0003605 fused kidneys semapv:ManualMappingCuration orcid:0000-0002-6490-7723 2021-09-20 KidsFirst; HPO term for Horseshoe kidney HP:0000085 uses Fused kidneys as a broad synonym. Conversely, MP term for fused kidneys MP:0003605 uses horseshoe kidney as a narrow synonym HP:0000086 Ectopic kidney skos:exactMatch 1 MP:0003600 ectopic kidney semapv:ManualMappingCuration orcid:0000-0002-6490-7723 2021-09-20 KidsFirst; MP term definition provides additional detail such as usual cause and sites of ectopic kidneys but terms are essentially equivalent; both MP and HPO terms use renal ectopia as an exact synonym HP:0000089 Renal hypoplasia skos:exactMatch 1 MP:0003446 renal hypoplasia semapv:ManualMappingCuration orcid:0000-0002-6490-7723|orcid:0000-0003-4606-0597 2022-01-25 KidsFirst HP:0000093 Proteinuria skos:exactMatch 1 MP:0002962 increased urine protein level semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32412303, PMID:32345702, PMID:32620220 HP:0000104 Renal agenesis skos:broadMatch 0.9 MP:0000520 absent kidney semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2021-05-27 KidsFirst; absence of both kidneys, HPO term has child terms for bilateral and unilateral renal agenesis that would be exact matches to the MP terms HP:0000104 Renal agenesis skos:broadMatch 0.9 MP:0003604 single kidney semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2021-05-27 KidsFirst HP:0000105 Enlarged kidney skos:exactMatch 1 MP:0003068 enlarged kidney semapv:ManualMappingCuration orcid:0000-0002-6490-7723 2021-12-20 KidsFirst HP:0000107 Renal cyst skos:exactMatch 0.9 MP:0003675 kidney cyst semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2021-05-27 KidsFirst; while the HP term is singular and the MP plural, the HP term has multiple cysts as a child term and the MP term does not specify that it has to be multiple, so I think these are an exact match HP:0000110 Renal dysplasia skos:broadMatch 0.9 MP:0000527 abnormal kidney development semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2021-05-27 KidsFirst HP:0000110 Renal dysplasia skos:narrowMatch 0.9 MP:0002135 abnormal kidney morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2021-05-27 KidsFirst; HPO terms covers both devlopment and morphology, no exact match in MP HP:0000113 Polycystic kidney dysplasia skos:narrowMatch 0.8 MP:0008528 polycystic kidney semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2021-05-27 KidsFirst; MP term definition does not specify both kidneys HP:0000118 Phenotypic abnormality skos:narrowMatch 1 MP:0000001 mammalian phenotype semapv:ManualMappingCuration orcid:0000-0002-6490-7723|orcid:0000-0003-4606-0597 2021-05-27 KidsFirst; the best you could do is the MP root term that covers all phenotypes both normal and abnormal HP:0000122 Unilateral renal agenesis skos:exactMatch 1 MP:0003604 single kidney semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2021-05-27 KidsFirst HP:0000123 Nephritis skos:exactMatch 1 MP:0001859 kidney inflammation semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32423587 HP:0000125 Pelvic kidney skos:exactMatch 1 MP:0011361 pelvic kidney semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-02-11 KidsFirst; add synonym HP:0000126 Hydronephrosis skos:exactMatch 1 MP:0000519 hydronephrosis semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2021-05-27 KidsFirst HP:0000133 Gonadal dysgenesis skos:narrowMatch 0.8 MP:0002211 abnormal primary sex determination semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-01-27 KidsFirst; uncertainty due to absence of definition for HPO term, based on definition of child terms and placement in the hierarchy I think the MP term is broader than the HPO term HP:0000158 Macroglossia skos:narrowMatch 1 MP:0009906 increased tongue size semapv:ManualMappingCuration orcid:0000-0002-6490-7723 2021-05-27 KidsFirst; MP definition does not specify increased length and width HP:0000174 Abnormal palate morphology skos:exactMatch 1 MP:0003755 abnormal palate morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2021-05-27 KidsFirst HP:0000175 Cleft palate skos:exactMatch 1 MP:0000111 cleft palate semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2021-05-27 KidsFirst HP:0000185 Cleft soft palate skos:narrowMatch 0.9 MP:0013546 cleft soft palate semapv:ManualMappingCuration orcid:0000-0002-6490-7723 2021-05-27 KidsFirst; MP definition does not specify time window of developmental defect or its functional consequences HP:0000218 High palate skos:narrowMatch 1 MP:0003757 high palate semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-01-27 KidsFirst; broad as the MP term does not have the 2SD above the mean restriction HP:0000219 Thin upper lip vermilion skos:relatedMatch 1 MP:0030168 thin upper lip semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-02-11 KidsFirst HP:0000224 Hypogeusia skos:exactMatch 1 MP:0031091 hypogeusia semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32464367 HP:0000238 Hydrocephalus skos:narrowMatch 0.7 MP:0001891 hydrocephaly semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2021-05-27 KidsFirst; Issue is with the HPO definition that specifies the cause resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption, MP term does not specify a cause. However, both MP and HPO have non-obstructive hydrocephaly/Communicating hydrocephalus as a child term and this type of hydrocephaly does not have an issue with passage. The MP definition for the child term abnormal cerebrospinal fluid absorption where there is no obstruction to fluid flow in the ventricular system indicating that in this form the absorption is the issue. Based on child terms it is possibly that the hydrocephaly/hydrocephalus terms in MP and HP should be exact. HP:0000243 Trigonocephaly skos:exactMatch 1 MP:0030368 trigonocephaly semapv:ManualMappingCuration orcid:0000-0002-6490-7723 2022-08-10 KidsFirst HP:0000252 Microcephaly skos:narrowMatch 0.8 MP:0000433 microcephaly semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2021-05-27 KidsFirst; MP specifies size not circumference and does not specify how much smaller HP:0000256 Macrocephaly skos:narrowMatch 0.9 MP:0000434 megacephaly semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2021-05-27 KidsFirst; MP term just specifies abnormally large size of the head not as specific as the HPO term HP:0000268 Dolichocephaly skos:exactMatch 0.9 MP:0003742 narrow head semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-11-15 KidsFirst; HP specifies increased or apparently increased anterior-posterior length but MP specifies reduced width, is we look only at the second alternative definition we could call this exact HP:0000271 Abnormality of the face skos:broadMatch 0.9 MP:0003743 abnormal facial morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2021-05-27 KidsFirst; I think the HPO term is broader as it has children like rhinitis which we would not put under facial morphology HP:0000286 Epicanthus skos:broadMatch 1 MP:0006168 epicanthus inversus semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-01-25 KidsFirst; consider adding a new term for this that would be a parent to existing term HP:0000316 Hypertelorism skos:exactMatch 0.9 MP:0001300 ocular hypertelorism semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-11-15 KidsFirst; MP term does not include the 2 SD requirement but would be an exact match to the alternate definition HP:0000322 Short philtrum skos:narrowMatch 0.9 MP:0030193 short philtrum semapv:ManualMappingCuration orcid:0000-0002-6490-7723 2021-09-20 KidsFirst; MP term definition does not include exact measurements and does not use vertical hypoplasia of philtrum as an exact synonym so I consider the MP term to be borader than the HPO term HP:0000324 Facial asymmetry skos:exactMatch 1 MP:0030099 facial asymmetry semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2021-05-27 KidsFirst HP:0000329 Facial hemangioma skos:relatedMatch 1 MP:0031292 increased facial hemangioma incidence semapv:ManualMappingCuration orcid:0000-0002-6490-7723 2022-04-11 KidsFirst; MP has increased hemangioma incidence (MP:0002947) and specific terms for retinal and oral mucosa. There is also a generic hemangioma term but I think that should be obsoleted. In general for tumors we have abnormal tumor incidence terms rather than just bare tumor terms. We could add an abnormal and/or increased facial hemangioma incidence terms HP:0000340 Sloping forehead skos:exactMatch 1 MP:0030048 sloping forehead semapv:ManualMappingCuration orcid:0000-0002-6490-7723|orcid:0000-0003-4606-0597 2022-02-11 KidsFirst; MP term definition is an exact match to the alternative HPO term definition HP:0000341 Narrow forehead skos:narrowMatch 1 MP:0030045 abnormal forehead shape semapv:ManualMappingCuration orcid:0000-0002-6490-7723|orcid:0000-0003-4606-0597 2022-02-11 KidsFirst; no annotations in MGI for narrow HP:0000347 Micrognathia skos:narrowMatch 0.9 MP:0002639 micrognathia semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2021-05-27 KidsFirst; MP specifies reduced size of the jaws, especially of the mandible HPO is specifically mandible hypoplasia, MP term has mandibular hypoplasia as a narrow synonym HP:0000358 Posteriorly rotated ears skos:exactMatch 1 MP:0003715 posteriorly rotated ears semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-01-25 KidsFirst HP:0000359 Abnormality of the inner ear skos:exactMatch 1 MP:0000026 abnormal inner ear morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-01-27 KidsFirst HP:0000360 Tinnitus skos:exactMatch 1 MP:0003741 tinnitus semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:33095432, PMID:32755405 HP:0000364 Hearing abnormality skos:exactMatch 0.8 MP:0001963 abnormal hearing physiology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2021-05-27 KidsFirst; MP definition is any functional anomaly in the ability to perceive auditory stimuli, I think this is an exact match to the HPO term HP:0000365 Hearing impairment skos:exactMatch 1 MP:0006325 impaired hearing semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2021-05-27 KidsFirst HP:0000369 Low-set ears skos:narrowMatch 0.9 MP:0000024 lowered ear position semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2021-05-27 KidsFirst; HP term is specific to the location of human ears on the head, MP covers any lowered ear position HP:0000372 Abnormality of the auditory canal skos:exactMatch 1 MP:0006033 abnormal external auditory canal morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-01-27 KidsFirst HP:0000378 Cupped ear skos:narrowMatch 0.9 MP:0003735 cup-shaped ears semapv:ManualMappingCuration orcid:0000-0002-6490-7723|orcid:0000-0003-4606-0597 2022-02-11 KidsFirst; definitions are very different but I am reasonably confident that the HP term would within the range of the MP term, uncertainty mainly about wether this could be an exact or close match HP:0000384 Preauricular skin tag skos:exactMatch 1 MP:0031305 preauricular skin tag semapv:ManualMappingCuration orcid:0000-0002-6490-7723 2021-10-12 KidsFirst; child of abnormal periauricular region morphology (MP:0030096) HP:0000396 Overfolded helix skos:narrowMatch 1 MP:0030092 abnormal outer ear helix morphology semapv:ManualMappingCuration orcid:0000-0002-6490-7723|orcid:0000-0003-4606-0597 2022-02-11 KidsFirst HP:0000402 Stenosis of the external auditory canal skos:exactMatch 1 MP:0031285 external auditory canal stenosis semapv:ManualMappingCuration orcid:0000-0002-6490-7723 2021-05-27 KidsFirst HP:0000405 Conductive hearing impairment skos:exactMatch 1 MP:0006326 conductive hearing impairment semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-01-25 KidsFirst HP:0000407 Sensorineural hearing impairment skos:exactMatch 1 MP:0006329 sensorineural hearing impairment semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-01-26 KidsFirst HP:0000411 Protruding ear skos:narrowMatch 1 MP:0000021 prominent ears semapv:ManualMappingCuration orcid:0000-0002-6490-7723 2021-09-20 KidsFirst; MP does not specifiy exact measurements so I consider this broader than the HPO term HP:0000413 Atresia of the external auditory canal skos:exactMatch 1 MP:0009707 absent external auditory canal semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-01-25 KidsFirst HP:0000431 Wide nasal bridge skos:exactMatch 1 MP:0000449 broad nasal bridge semapv:ManualMappingCuration orcid:0000-0002-6490-7723|orcid:0000-0003-4606-0597 2022-08-10 KidsFirst; both terms use the same logical definition so I think these are the same despite differences in the text definitions HP:0000453 Choanal atresia skos:exactMatch 1 MP:0008970 choanal atresia semapv:ManualMappingCuration orcid:0000-0002-6490-7723 2021-09-20 KidsFirst; MP definition specifies blockage of the back of the nasal passage by abnormal bony or soft tissue and additional detail on developmental cause. However, HPO term uses blockage and obstruction of the rear opening of the nasal cavity as exact synonyms, and both MP and HPO terms use atretic (= absence or abnormal closure) in the eqs so I think these are equivalent HP:0000458 Anosmia skos:exactMatch 1 MP:0004512 anosmia semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32464367, PMID:32383370, PMID:32587625, PMID:32563019, PMID:32620220 HP:0000464 Abnormality of the neck skos:broadMatch 1 MP:0012719 abnormal neck morphology semapv:ManualMappingCuration orcid:0000-0002-6490-7723|orcid:0000-0003-4606-0597 2022-02-11 KidsFirst; MP term is limited to morphology, HPO term could refer to morphology or physiology HP:0000465 Webbed neck skos:narrowMatch 0.9 MP:0012077 webbed neck semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-06-21 KidsFirst HP:0000470 Short neck skos:exactMatch 1 MP:0012721 short neck semapv:ManualMappingCuration orcid:0000-0002-6490-7723 2021-05-27 KidsFirst HP:0000473 Torticollis skos:exactMatch 1 MP:0030126 torticollis semapv:ManualMappingCuration orcid:0000-0002-6490-7723 2021-05-27 KidsFirst HP:0000476 Cystic hygroma skos:narrowMatch 1 MP:0031310 abnormal cyst semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-06-21 KidsFirst HP:0000486 Strabismus skos:narrowMatch 1 MP:0005254 strabismus semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2021-05-27 KidsFirst; MP is defined as misalignment of the visual axes of the eyes without reference to bifoveal fixation HP:0000508 Ptosis skos:narrowMatch 0.8 MP:0001344 blepharoptosis semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2021-05-27 KidsFirst; MP just specifies drooping does not include exact measurements as these would differ for different species HP:0000509 Conjunctivitis skos:exactMatch 1 MP:0001311 conjunctivitis semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32232433, PMID:32574165, PMID:32620220 HP:0000519 Developmental cataract skos:exactMatch 1 MP:0031345 developmental cataract semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2022-02-01 KidsFirst; ticket https://github.com/mgijax/mammalian-phenotype-ontology/issues/3499 HP:0000520 Proptosis skos:exactMatch 1 MP:0002750 exophthalmos semapv:ManualMappingCuration orcid:0000-0002-6490-7723|orcid:0000-0003-4606-0597 2022-06-21 KidsFirst HP:0000527 Long eyelashes skos:exactMatch 1 MP:0031288 long eyelid cilia semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-06-21 KidsFirst; MP term matches the subjective definition HP:0000528 Anophthalmia skos:exactMatch 1 MP:0001293 anophthalmia semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-06-21 KidsFirst HP:0000565 Esotropia skos:exactMatch 1 MP:0005256 esotropia semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-01-27 KidsFirst HP:0000568 Microphthalmia skos:exactMatch 0.8 MP:0001297 microphthalmia semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2021-05-27 KidsFirst; MP definition uses plural eyes, but I think these are exact match and I would not be surprised to find annotations of models with unilateral microphthalmia annotated to the MP term, we may want to clarify the definition HP:0000577 Exotropia skos:exactMatch 1 MP:0005255 exotropia semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-06-21 KidsFirst HP:0000579 Nasolacrimal duct obstruction skos:broadMatch 1 MP:0013451 nasolacrimal duct obstruction semapv:ManualMappingCuration orcid:0000-0002-6490-7723 2021-12-20 KidsFirst; MP term definition refers specifically to the nasolacrimal duct whereas the HPO definition refers to the lacrimal duct (According to Taber's a lacrimal duct is any of the small excretory ducts of the lacrimal glands) HP:0000582 Upslanted palpebral fissure skos:narrowMatch 1 MP:0001340 abnormal eyelid morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-06-21 KidsFirst HP:0000587 Abnormality of the optic nerve skos:exactMatch 1 MP:0001330 abnormal optic nerve morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-01-27 KidsFirst HP:0000588 Optic nerve coloboma skos:narrowMatch 0.9 MP:0010717 optic nerve coloboma semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-06-21 KidsFirst; MP term does not specify extends inferiorly HP:0000601 Hypotelorism skos:exactMatch 1 MP:0006197 ocular hypotelorism semapv:ManualMappingCuration orcid:0000-0002-6490-7723 2021-12-20 KidsFirst HP:0000609 Optic nerve hypoplasia skos:exactMatch 1 MP:0006221 optic nerve hypoplasia semapv:ManualMappingCuration orcid:0000-0002-6490-7723 2021-05-27 KidsFirst HP:0000613 Photophobia skos:exactMatch 1 MP:0013787 photophobia semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32421258 HP:0000622 Blurred vision skos:exactMatch 1 MP:0006149 decreased visual acuity semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32421258 HP:0000627 Posterior embryotoxon skos:narrowMatch 1 MP:0006250 abnormal line of Schwalbe morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-06-21 KidsFirst HP:0000639 Nystagmus skos:narrowMatch 0.9 MP:0004844 abnormal vestibuloocular reflex semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-06-21 KidsFirst; The MP term covers any abnormality in this reflex HP:0000646 Amblyopia skos:narrowMatch 1 MP:0006149 decreased visual acuity semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-06-21 KidsFirst HP:0000648 Optic atrophy skos:exactMatch 1 MP:0001059 optic nerve atrophy semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-07-26 KidsFirst; MP term specifies acquired, HPO does not mention this but both specify death of cells HP:0000651 Diplopia skos:exactMatch 1 MP:0006150 double vision semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32303650, PMID:32364121 HP:0000682 Abnormality of dental enamel skos:exactMatch 1 MP:0002576 abnormal enamel morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2021-05-27 KidsFirst HP:0000698 Conical tooth skos:exactMatch 1 MP:0030499 conical tooth semapv:ManualMappingCuration orcid:0000-0002-6490-7723 2021-09-20 KidsFirst HP:0000707 Abnormality of the nervous system skos:narrowMatch 1 MP:0003631 nervous system phenotype semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2021-05-27 KidsFirst HP:0000708 Behavioral abnormality skos:exactMatch 1 MP:0004924 abnormal behavior semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2021-05-27 KidsFirst HP:0000713 Agitation skos:relatedMatch 1 MP:0008912 nervous semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID; MP term exact synonym = easily agitated PMID:32294339, PMID:32620220 HP:0000716 Depressivity skos:narrowMatch 1 MP:0002573 behavioral despair semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32738287, PMID:32563745 HP:0000716 Depression skos:relatedMatch 0.8 MP:0003360 abnormal depression - related behavior semapv:ManualMappingCuration orcid:0000-0003-2307-1226 2021-07-29 Alzheimer HP:0000739 Anxiety skos:relatedMatch 1 MP:0001363 increased anxiety-related response semapv:ManualMappingCuration orcid:0000-0002-6490-7723 2021-05-27 KidsFirst HP:0000739 Anxiety skos:relatedMatch 0.9 MP:0001363 increased anxiety-related response semapv:ManualMappingCuration orcid:0000-0003-2307-1226|orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 Alzheimer, COVID PMID:32738287, PMID:32563745 HP:0000766 Abnormal sternum morphology skos:exactMatch 1 MP:0000157 abnormal sternum morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-07-29 KidsFirst, scoliosis HP:0000766 Abnormal sternum morphology skos:broadMatch 1 MP:0004322 abnormal sternebra morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-07-29 scoliosis HP:0000766 Abnormal sternum morphology skos:broadMatch 1 MP:0010082 sternebra fusion semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-08-02 scoliosis HP:0000767 Pectus excavatum skos:exactMatch 1 MP:0012514 pectus excavatum semapv:ManualMappingCuration orcid:0000-0002-6490-7723|orcid:0000-0003-4606-0597 2021-05-27 KidsFirst HP:0000768 Pectus carinatum skos:broadMatch 0.8 MP:0031277 pectus carinatum semapv:ManualMappingCuration orcid:0000-0002-6490-7723 2021-05-27 KidsFirst; new child of MP:0004134; new MP term specifies congenital, HPO does not HP:0000775 Abnormality of the diaphragm skos:exactMatch 1 MP:0002279 abnormal diaphragm morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-01-27 KidsFirst HP:0000776 Congenital diaphragmatic hernia skos:narrowMatch 0.9 MP:0003924 diaphragmatic hernia semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2021-05-27 KidsFirst; MP does not specify congenital in the definition HP:0000778 Hypoplasia of the thymus skos:exactMatch 1 MP:0001823 thymus hypoplasia semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-01-27 KidsFirst HP:0000787 Nephrolithiasis skos:exactMatch 1 MP:0002708 nephrolithiasis semapv:ManualMappingCuration orcid:0000-0002-6490-7723 2021-05-27 KidsFirst HP:0000790 Hematuria skos:exactMatch 1 MP:0005161 hematuria semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32412303, PMID:32345702, PMID:32620220 HP:0000807 Glandular hypospadias skos:exactMatch 0.8 MP:0031295 glanular hypospadia semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-07-26 KidsFirst; uncertainty due to absence of definition in HPO but MGI synonym matches HPO term name HP:0000808 Penoscrotal hypospadias skos:exactMatch 1 MP:0031296 penoscrotal hypospadia semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-07-26 KidsFirst HP:0000821 Hypothyroidism skos:narrowMatch 1 MP:0003503 decreased activity of thyroid gland semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2021-05-27 KidsFirst; MP has hypothyroidism but defines this as reduced function of this endocrine gland that normally produces hormones that regulate the metabolic rate of the body and has separate terms for abnormal thyroid homone levels. HPO also has terms for thyroid hormone levels but the decreased terms do not relate to hypothyroidism HP:0000823 Delayed puberty skos:narrowMatch 0.9 MP:0001938 delayed sexual maturation semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-08-12 KidsFirst HP:0000824 Decreased response to growth hormone stimulation test skos:narrowMatch 1 MP:0005120 decreased circulating growth hormone level semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-01-27 KidsFirst; going with broad since the HPO term has responses to growth hormone (GH) provocation tests in the definition while the MP term covers lower levels regardless of the test HP:0000889 Abnormal clavicle morphology skos:exactMatch 1 MP:0005298 abnormal clavicle morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-07-28 scoliosis HP:0000921 Missing ribs skos:exactMatch 1 MP:0003345 decreased rib number semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-01-27 KidsFirst HP:0000924 Abnormality of the skeletal system skos:narrowMatch 1 MP:0005390 skeleton phenotype semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-08-02 scoliosis HP:0000925 Abnormality of the vertebral column skos:exactMatch 1 MP:0004703 abnormal vertebral column morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-07-29 KidsFirst, scoliosis HP:0000929 Abnormal skull morphology skos:exactMatch 0.9 MP:0000438 abnormal cranium morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-07-28 KidsFirst, scoliosis; MP definition is any structural anomaly of the bones of the head, only question would be are there any bones of the head that would not be considered part of the skull. I think the intended meaning is the same as that of the HP term, note there is a synonym match between the MP term and the HPO term Abnormality of the calvaria but these are not exact matches HP:0000957 Cafe-au-lait spot skos:broadMatch 1 MP:0002095 abnormal skin pigmentation semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-01-27 KidsFirst HP:0000958 Dry skin skos:exactMatch 1 MP:0003853 dry skin semapv:ManualMappingCuration orcid:0000-0002-6490-7723 2021-05-27 KidsFirst HP:0000961 Cyanosis skos:exactMatch 1 MP:0001575 cyanosis semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32289472 HP:0000967 Petechiae skos:exactMatch 1 MP:0008816 petechiae semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32390279 HP:0000979 Purpura skos:exactMatch 1 MP:0011515 purpura semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32390279 HP:0000988 Skin rash skos:exactMatch 1 MP:0031103 skin rash semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32390279, PMID:32574165 HP:0000989 Pruritus skos:broadMatch 1 MP:0010072 increased pruritus semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2023-11-15 COVID PMID:32390279 HP:0001000 Abnormality of skin pigmentation skos:exactMatch 1 MP:0002095 abnormal skin pigmentation semapv:ManualMappingCuration orcid:0000-0002-6490-7723|orcid:0000-0003-4606-0597 2022-01-26 KidsFirst; MP textual definition includes changes in the amount, shape, or distribution of cells producing pigment. The HPO term is synonymous to abnormal skin color. Note that there is an existing MP parent term for abnormal skin coloration MP:0011239 - smb: I think the skin color synonyms ought to be broad since skin color can change based on non-pigment related reasons. Based on definitions and placement I think these are an exact match HP:0001028 Hemangioma skos:relatedMatch 1 MP:0002947 increased hemangioma incidence semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2021-05-27 KidsFirst HP:0001063 Acrocyanosis skos:broadMatch 1 MP:0001575 cyanosis semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32220276 HP:0001067 Neurofibromas skos:relatedMatch 1 MP:0010314 increased neurofibroma incidence semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2021-05-27 KidsFirst HP:0001096 Keratoconjunctivitis skos:exactMatch 1 MP:0006194 keratoconjunctivitis semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32284146 HP:0001097 Keratoconjunctivitis sicca skos:broadMatch 1 MP:0001337 dry eyes semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID; HP term is specific for inflammation induced dry eyes PMID:32421258 HP:0001159 Syndactyly skos:exactMatch 1 MP:0000564 syndactyly semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-01-26 KidsFirst HP:0001161 Hand polydactyly skos:narrowMatch 1 MP:0000562 polydactyly semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-01-25 KidsFirst; create new children for fore and hindlimb polydactyly HP:0001191 Abnormal carpal morphology skos:exactMatch 0.8 MP:0000554 abnormal carpal bone morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-07-28 scoliosis HP:0001195 Single umbilical artery skos:narrowMatch 1 MP:0003230 abnormal umbilical artery morphology semapv:ManualMappingCuration orcid:0000-0002-6490-7723|orcid:0000-0003-4606-0597 2021-05-27 KidsFirst; child of MP:0003230, would need to be modified to make it clear that this was a reduced number of arteries from the normal state. I would assume in some species a single artery might be normal HP:0001250 Seizure skos:exactMatch 0.9 MP:0002064 seizures semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0003-2307-1226|orcid:0000-0002-6490-7723 2022-08-10 Alzheimer, COVID, KidsFirst; each definition has details that are distinct but I think the intention is to describe the same phenotype PMID:32416567 HP:0001251 Ataxia skos:narrowMatch 1 MP:0001393 ataxia semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-07-29 Alzheimer, COVID, scoliosis; HPO term is limited to cerebellar ataxia and specifically excludes sensory, the MP term does not specify cerebellar so I think it would include both HP:0001252 Muscular hypotonia skos:exactMatch 0.9 MP:0004144 hypotonia semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2021-05-27 KidsFirst; based on definitions these are the same, but note that the MP definition states that hypotonia shoud not be confused with weakness while the HP includes Low or weak muscle tone as a synonym. I think this is fine since it specifies tone but I knocked the confidence down to 9 because of this - smb HP:0001254 Lethargy skos:exactMatch 1 MP:0005202 lethargy semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32375909 HP:0001260 Dysarthria skos:broadMatch 1 MP:0001529 abnormal vocalization semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2021-12-31 COVID PMID:32354768 HP:0001269 Hemiparesis skos:exactMatch 1 MP:0031201 hemiparesis semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32354768, PMID:32436105 HP:0001272 Cerebellar atrophy skos:exactMatch 1 MP:0014185 cerebellum atrophy semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0003-2307-1226 2023-11-15 Alzheimer HP:0001276 Hypertonia skos:relatedMatch 1 MP:0012052 hypertonicity semapv:ManualMappingCuration orcid:0000-0003-2307-1226 2021-07-29 Alzheimer HP:0001279 Syncope skos:exactMatch 1 MP:0031302 syncope semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID https://www.medrxiv.org/content/10.1101/2020.12.30.20249060v1 HP:0001284 Areflexia skos:broadMatch 1 MP:0031122 areflexia semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2023-07-28 COVID PMID:32464367 HP:0001287 Meningitis skos:exactMatch 1 MP:0031110 meningitis semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32464367 HP:0001288 Gait disturbance skos:exactMatch 1 MP:0001406 abnormal gait semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-07-28 scoliosis, Alzheimer HP:0001290 Generalized hypotonia skos:narrowMatch 1 MP:0004144 hypotonia semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-01-27 KidsFirst; MP broad based on lack of generalized specification HP:0001298 Encephalopathy skos:exactMatch 1 MP:0013806 encephalopathy semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID: 32464367, PMID:32622375 HP:0001320 Cerebellar vermis hypoplasia skos:exactMatch 1 MP:0000866 cerebellum vermis hypoplasia semapv:ManualMappingCuration orcid:0000-0002-6490-7723 2021-05-27 KidsFirst HP:0001321 Cerebellar hypoplasia skos:exactMatch 1 MP:0000851 cerebellum hypoplasia semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2021-05-27 KidsFirst HP:0001324 Muscle weakness skos:exactMatch 1 MP:0000747 muscle weakness semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32464367 HP:0001336 Myoclonus skos:exactMatch 1 MP:0000243 myoclonus semapv:ManualMappingCuration orcid:0000-0003-2307-1226|orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 Alzheimer, COVID PMID:32804787, https://doi.org/10.1101/2020.07.01.20143214, https://doi.org/10.1101/2020.10.21.20216747 HP:0001342 Cerebral hemorrhage skos:exactMatch 1 MP:0001916 intracerebral hemorrhage semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID, Alzheimer PMID:32464367 HP:0001355 Megalencephaly skos:narrowMatch 0.9 MP:0012139 increased forebrain size semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2021-05-27 KidsFirst; MP covers entire forebrain not just cerebral hemispheres and does not specify consequence HP:0001363 Craniosynostosis skos:exactMatch 1 MP:0000081 premature cranial suture closure semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2021-05-27 KidsFirst HP:0001374 Congenital hip dislocation skos:narrowMatch 0.7 MP:0030796 hip dislocation semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-11-15 KidsFirst; no mention of congenital in MP term HP:0001385 Hip dysplasia skos:narrowMatch 0.8 MP:0004509 abnormal pelvic girdle bone morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2021-05-27 KidsFirst; MP is not congenital, based on HPO eq using innominate bone I think this is the correct match HP:0001388 Joint laxity skos:exactMatch 1 MP:0030797 joint laxity semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-08-10 KidsFirst HP:0001397 Hepatic steatosis skos:exactMatch 1 MP:0002628 hepatic steatosis semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32369204 HP:0001399 Hepatic failure skos:exactMatch 1 MP:0003326 liver failure semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32145190 HP:0001410 Decreased liver function skos:exactMatch 1 MP:0003325 decreased liver function semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32145190, PMID:32388469 HP:0001414 Microvesicular hepatic steatosis skos:exactMatch 1 MP:0031116 microvesicular hepatic steatosis semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32507608 HP:0001507 Growth abnormality skos:broadMatch 1 MP:0001265 decreased body size semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-07-29 scoliosis HP:0001511 Intrauterine growth retardation skos:narrowMatch 1 MP:0010865 prenatal growth retardation semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-08-10 KidsFirst; MP does not specify the percentile but would cover the meaning of the HP term, MP also covers embryonic and fetal stages HP:0001537 Umbilical hernia skos:exactMatch 1 MP:0010146 umbilical hernia semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-01-27 KidsFirst HP:0001539 Omphalocele skos:exactMatch 1 MP:0003052 omphalocele semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2021-05-27 KidsFirst HP:0001601 Laryngomalacia skos:narrowMatch 1 MP:0002249 abnormal larynx morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-01-27 KidsFirst; no related annotations in MGI HP:0001609 Hoarse voice skos:broadMatch 1 MP:0001529 abnormal vocalization semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32393804 HP:0001618 Dysphonia skos:broadMatch 1 MP:0001529 abnormal vocalization semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:33051108 HP:0001626 Abnormality of the cardiovascular system skos:narrowMatch 1 MP:0005385 cardiovascular system phenotype semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2021-05-27 KidsFirst; MP term does not specify abnormal and is typically used in annotations for mice lacking abnormal phenotypes in the system HP:0001627 Abnormal heart morphology skos:exactMatch 1 MP:0000266 abnormal heart morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2021-05-27 KidsFirst HP:0001629 Ventricular septal defect skos:exactMatch 1 MP:0010402 ventricular septal defect semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2021-05-27 KidsFirst HP:0001631 Atrial septal defect skos:exactMatch 1 MP:0010403 atrial septal defect semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2021-05-27 KidsFirst HP:0001633 Abnormal mitral valve morphology skos:exactMatch 1 MP:0000286 abnormal mitral valve morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2021-05-27 KidsFirst HP:0001635 Congestive heart failure skos:exactMatch 1 MP:0006138 congestive heart failure semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32352535, PMID:32620220 HP:0001636 Tetralogy of Fallot skos:narrowMatch 1 MP:0002127 abnormal cardiovascular system morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2021-05-27 KidsFirst; this is a grouping of multiple phenotypes, may include some but not all of the grouped phenotypes, not inclined to add this to the MP, need to go up to cardiovascular system morphology as the phenotypes include both the heart and blood vessels HP:0001638 Cardiomyopathy skos:exactMatch 1 MP:0005330 cardiomyopathy semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32354800 HP:0001641 Abnormal pulmonary valve morphology skos:exactMatch 1 MP:0002748 abnormal pulmonary valve morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2021-05-27 KidsFirst HP:0001642 Pulmonic stenosis skos:broadMatch 1 MP:0006128 pulmonary valve stenosis semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-08-10 KidsFirst; MP refers only to the valve, HP is valve plus just below the pulmonary valve (infundibular stenosis). Comment on MP specifically excluded infundibular stenosis HP:0001642 Pulmonic stenosis skos:narrowMatch 0.7 MP:0010449 heart right ventricle outflow tract stenosis semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-08-10 KidsFirst; I think this is exact, note MP has this under morphology while HPO has it under physiology, also the MP eq uses constricted and 'outflow part of right ventricle' while the HPO uses constricted and 'pulmonary valve' but the HPO text definition specifies pulmonary valve and just below the valve so I think the HPO eq is incorrect. MP has a term for pulmonary valve stenosis that uses the pulmonary valve. Also note the HPO term is a child of pulmonary valve physiology so possibly it should be relabeled to be specific to the valve? HP:0001643 Patent ductus arteriosus skos:exactMatch 1 MP:0003139 patent ductus arteriosus semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2021-05-27 KidsFirst HP:0001646 Abnormal aortic valve morphology skos:exactMatch 1 MP:0002747 abnormal aortic valve morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2021-05-27 KidsFirst HP:0001647 Bicuspid aortic valve skos:exactMatch 1 MP:0010484 bicuspid aortic valve semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2021-05-27 KidsFirst HP:0001649 Tachycardia skos:exactMatch 1 MP:0002626 increased heart rate semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID; MP term exact synonym = tachycardia PMID:32352535 HP:0001651 Dextrocardia skos:exactMatch 1 MP:0000644 dextrocardia semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-01-25 KidsFirst HP:0001653 Mitral regurgitation skos:exactMatch 1 MP:0006045 mitral valve regurgitation semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2021-05-27 KidsFirst HP:0001655 Patent foramen ovale skos:exactMatch 1 MP:0004225 patent cardiac foramen ovale semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2021-05-27 KidsFirst HP:0001658 Myocardial infarction skos:relatedMatch 1 MP:0031217 increased susceptibility to myocardial ischemic injury semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32415579, PMID:32620220 HP:0001659 Aortic regurgitation skos:exactMatch 1 MP:0006047 aortic valve regurgitation semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2021-05-27 KidsFirst HP:0001663 Ventricular fibrillation skos:exactMatch 1 MP:0006110 ventricular fibrillation semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32352535 HP:0001679 Abnormal aortic morphology skos:exactMatch 1 MP:0000272 abnormal aorta morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2021-05-27 KidsFirst; add HPO as synonym HP:0001680 Coarctation of aorta skos:exactMatch 1 MP:0003387 aorta coarctation semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2021-05-27 KidsFirst HP:0001682 Subvalvular aortic stenosis skos:narrowMatch 1 MP:0010463 aorta stenosis semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-01-27 KidsFirst HP:0001684 Secundum atrial septal defect skos:exactMatch 1 MP:0010405 ostium secundum atrial septal defect semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2021-05-27 KidsFirst HP:0001696 Situs inversus totalis skos:exactMatch 1 MP:0011252 situs inversus totalis semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-01-27 KidsFirst HP:0001698 Pericardial effusion skos:exactMatch 1 MP:0005312 pericardial effusion semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32352535, PMID:32118615 HP:0001700 Myocardial necrosis skos:exactMatch 1 MP:0006085 myocardium necrosis semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32354800 HP:0001701 Pericarditis skos:exactMatch 1 MP:0001857 pericarditis semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32360119 HP:0001702 Abnormal tricuspid valve morphology skos:exactMatch 1 MP:0002624 abnormal tricuspid valve morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2021-05-27 KidsFirst HP:0001707 Abnormal right ventricle morphology skos:exactMatch 1 MP:0003920 abnormal heart right ventricle morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2021-05-27 KidsFirst HP:0001710 Conotruncal defect skos:relatedMatch 0.9 MP:0006126 abnormal cardiac outflow tract development semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2021-05-27 KidsFirst; MP has this as the process but not a general morphology term, possibly we should add one? HP:0001711 Abnormal left ventricle morphology skos:exactMatch 1 MP:0003921 abnormal heart left ventricle morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2021-05-27 KidsFirst HP:0001719 Double outlet right ventricle skos:exactMatch 1 MP:0000284 double outlet right ventricle semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2021-05-27 KidsFirst HP:0001734 Annular pancreas skos:narrowMatch 1 MP:0006261 annular pancreas semapv:ManualMappingCuration orcid:0000-0002-6490-7723 2021-05-27 KidsFirst; MP term definition does not specify additional detail such as congenital, complete or incomplete enciclement of the second portion of duodenum or occasional obstruction of the more proximal part HP:0001741 Phimosis skos:exactMatch 1 MP:0003554 phimosis semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-01-27 KidsFirst HP:0001742 Nasal congestion skos:narrowMatch 1 MP:0031101 nasal obstruction semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID; HPO term narrow synonym = Nasal congestion PMID:32586739 HP:0001743 Abnormality of the spleen skos:broadMatch 1 MP:0000689 abnormal spleen morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-01-27 KidsFirst HP:0001743 Abnormality of the spleen skos:broadMatch 1 MP:0008737 abnormal spleen physiology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-01-27 KidsFirst HP:0001746 Asplenia skos:exactMatch 1 MP:0000690 absent spleen semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2021-05-27 KidsFirst HP:0001748 Polysplenia skos:relatedMatch 0.9 MP:0003342 accessory spleen semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2021-05-27 KidsFirst; The HP has the parent term Supernumerary spleens (HP:0009799) and the sibling Accessory spleen (HP:0001747). None of the text definitions match what the MP has for accessory spleens HP:0001750 Single ventricle skos:exactMatch 1 MP:0010432 common ventricle semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-01-27 KidsFirst HP:0001762 Talipes equinovarus skos:narrowMatch 0.7 MP:0000576 clubfoot semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2021-05-27 KidsFirst; MP definition foot is plantarflexed, inverted and adducted This is not as specific as the HPO definition. I went with broad as in other species the same criteria may not apply as in the HP definition HP:0001776 Bilateral talipes equinovarus skos:narrowMatch 1 MP:0000576 clubfoot semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-01-27 KidsFirst HP:0001780 Abnormality of toe skos:narrowMatch 1 MP:0002110 abnormal digit morphology semapv:ManualMappingCuration orcid:0000-0002-6490-7723 2022-08-10 KidsFirst; HPO term is a child term of abnormal digit morphology. MP term uses abnormal toe morphology as a narrow synonym. HP:0001824 Weight loss skos:exactMatch 1 MP:0001263 weight loss semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32519505 HP:0001829 Foot polydactyly skos:narrowMatch 1 MP:0000562 polydactyly semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-01-27 KidsFirst HP:0001832 Abnormal metatarsal morphology skos:exactMatch 1 MP:0003072 abnormal metatarsal bone morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-07-28 scoliosis HP:0001840 Metatarsus adductus skos:narrowMatch 1 MP:0003072 abnormal metatarsal bone morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-01-25 KidsFirst; consider adding new child, at least a general rotation term HP:0001873 Thrombocytopenia skos:exactMatch 1 MP:0003179 thrombocytopenia semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32178975, PMID:32311826 HP:0001882 Leukopenia skos:narrowMatch 1 MP:0000221 decreased leukocyte cell number semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2023-07-28 COVID PMID:31986264 HP:0001888 Lymphopenia skos:narrowMatch 1 MP:0005016 decreased lymphocyte cell number semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2023-07-28 COVID PMID:32007143, PMID:31986264, PMID:32311826 HP:0001902 Giant platelets skos:exactMatch 0.9 MP:0030025 giant platelets semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-08-10 KidsFirst; MP term matches the second part of the HPO definition as large as or larger than the red blood cells HP:0001907 Thromboembolism skos:relatedMatch 1 MP:0031158 abnormal venous thrombosis semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID https://doi.org/10.1038/s41569-020-0413-9 HP:0001928 Abnormality of coagulation skos:exactMatch 1 MP:0002551 abnormal blood coagulation semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID; MP related synonym = coagulopathy PMID:32508062, PMID:32415579, PMID:32467443, PMID:32073213 HP:0001939 Abnormality of metabolism/homeostasis skos:exactMatch 1 MP:0005376 homeostasis/metabolism phenotype semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-08-02 scoliosis HP:0001941 Acidosis skos:exactMatch 1 MP:0003031 acidosis semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32234466 HP:0001942 Metabolic acidosis skos:exactMatch 1 MP:0012551 metabolic acidosis semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32574318 HP:0001943 Hypoglycemia skos:exactMatch 0.9 MP:0005560 decreased circulating glucose level semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-11-15 KidsFirst; the MP also has a term for hypoglycemia (child of decreased circulating glucose level) but states that this generally refers to the pathological state. Since the HPO terms is defined just as A decreased concentration of glucose in the blood. I think the circulating term is a better match, lower confidence since the EQ for the HPO term includes 'pathological' but the text definition doesn't HP:0001945 Fever skos:broadMatch 1 MP:0005533 increased body temperature semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID; MP term narrow synonym = hyperpyrexia PMID:32574165 HP:0001974 Leukocytosis skos:narrowMatch 1 MP:0000218 increased leukocyte cell number semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2023-07-28 COVID PMID:32209890, PMID:32007143, PMID:32311826 HP:0001977 Abnormal thrombosis skos:exactMatch 1 MP:0005048 abnormal thrombosis semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32508062, PMID:32415579, PMID:32467443 HP:0001999 Abnormal facial shape skos:broadMatch 1 MP:0030071 abnormal face shape semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-28 KidsFirst HP:0002013 Vomiting skos:exactMatch 1 MP:0003260 vomiting semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32574165, PMID:32222988, PMID:32620220 HP:0002014 Diarrhea skos:exactMatch 1 MP:0005036 diarrhea semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32574165, PMID:32222988, PMID:32620220 HP:0002015 Dysphagia skos:exactMatch 1 MP:0003158 dysphagia semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32460415 HP:0002018 Nausea skos:exactMatch 1 MP:0003259 nausea semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32574165, PMID:32222988 HP:0002020 Gastroesophageal reflux skos:exactMatch 1 MP:0003286 gastroesophageal reflux semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-01-27 KidsFirst HP:0002021 Pyloric stenosis skos:exactMatch 1 MP:0003307 pyloric stenosis semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2021-05-27 KidsFirst HP:0002023 Anal atresia skos:exactMatch 1 MP:0003130 anal atresia semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2021-05-27 KidsFirst HP:0002032 Esophageal atresia skos:narrowMatch 0.9 MP:0003276 esophageal atresia semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2021-07-15 KidsFirst; MP definition specifies congenital blockage or absence while HP specifies complete obliteration of the lumen of the esophagus, I would not consider blockage to =obliteration of the lumen but absence would = obliteration so I consider the MP term to be broader than the HP term HP:0002039 Anorexia skos:relatedMatch 0.7 MP:0011940 decreased food intake semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID; MP term related synonyms = anorexia, loss of appetite, uncertainty based on question of if this would be skos:relatedMatch or skos:broadMatch PMID:32222988, PMID:32620220 HP:0002059 Cerebral atrophy skos:narrowMatch 1 MP:0012508 forebrain atrophy semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-01-28 KidsFirst HP:0002084 Encephalocele skos:exactMatch 1 MP:0012260 encephalomeningocele semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-01-25 KidsFirst HP:0002089 Pulmonary hypoplasia skos:exactMatch 1 MP:0001178 pulmonary hypoplasia semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2021-05-27 KidsFirst HP:0002090 Pneumonia skos:exactMatch 1 MP:0001861 lung inflammation semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32526193 HP:0002094 Dyspnea skos:exactMatch 1 MP:0001954 respiratory distress semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID; MP exact synonym = dyspnea PMID:32574165, PMID:32371463, PMID:32118615 HP:0002097 Emphysema skos:exactMatch 1 MP:0001958 emphysema semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32475804, PMID:32330274 HP:0002098 Respiratory distress skos:exactMatch 1 MP:0001954 respiratory distress semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32586739 HP:0002102 Pleuritis skos:exactMatch 1 MP:0031053 pleuritis semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32198191 HP:0002105 Hemoptysis skos:exactMatch 1 MP:0031100 hemoptysis semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32574165 HP:0002107 Pneumothorax skos:exactMatch 1 MP:0010822 pneumothorax semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32475804, PMID:32330274 HP:0002110 Bronchiectasis skos:exactMatch 1 MP:0011012 bronchiectasis semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32367422 HP:0002119 Ventriculomegaly skos:exactMatch 1 MP:0011380 enlarged brain ventricles semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-01-28 KidsFirst HP:0002138 Subarachnoid hemorrhage skos:exactMatch 1 MP:0031109 subarachnoid hemorrhage semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32464367 HP:0002140 Ischemic stroke skos:relatedMatch 1 MP:0003076 increased susceptibility to ischemic brain injury semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32360439, PMID:32354768 HP:0002148 Hypophosphatemia skos:exactMatch 1 MP:0000198 decreased circulating phosphate level semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID https://doi.org/10.1093/ckj/sfaa109, https://www.medrxiv.org/content/10.1101/2020.03.27.20040816v1, https://www.medrxiv.org/content/10.1101/2020.08.25.20181453v1 HP:0002151 Increased serum lactate skos:exactMatch 1 MP:0013405 increased circulating lactate level semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID; HP definition specifies blood not serum so I made these skos:exactMatch PMID:34856090, PMID:33432902 HP:0002170 Intracranial hemorrhage skos:exactMatch 1 MP:0001915 intracranial hemorrhage semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32464367 HP:0002171 Gliosis skos:exactMatch 1 MP:0002183 gliosis semapv:ManualMappingCuration orcid:0000-0003-2307-1226 2021-07-29 Alzheimer HP:0002181 Cerebral edema skos:exactMatch 1 MP:0011854 cerebral edema semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32240762 HP:0002185 Neurofibrillary tangles skos:exactMatch 1 MP:0003214 neurofibrillary tangles semapv:ManualMappingCuration orcid:0000-0003-2307-1226 2021-07-29 Alzheimer HP:0002202 Pleural effusion skos:exactMatch 1 MP:0010334 pleural effusion semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32118615, PMID:32500509 HP:0002204 Pulmonary embolism skos:exactMatch 1 MP:0031080 pulmonary embolism semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32291094, PMID:32398297, https://www.medrxiv.org/content/10.1101/2020.10.09.20209965v1, PMID:32330083, PMID:32620220 HP:0002206 Pulmonary fibrosis skos:exactMatch 1 MP:0003426 pulmonary interstitial fibrosis semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID; HP term is a child of pulmonary interstitial morphology so despite not mentioning interstitial in the term or definition I think these are an exact match PMID:32572155 HP:0002206 Pulmonary fibrosis skos:narrowMatch 1 MP:0006050 pulmonary fibrosis semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID; HP term is a child of pulmonary interstitial morphology so despite not mentioning interstitial in the term or definition location in the hierarchy would make this a skos:narrowMatch match to the MP term that covers more than interstitial fibrosis PMID:32422178 HP:0002239 Gastrointestinal hemorrhage skos:exactMatch 1 MP:0000465 gastrointestinal hemorrhage semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32222988 HP:0002240 Hepatomegaly skos:exactMatch 1 MP:0000599 enlarged liver semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 KidsFirst, COVID PMID:32274341 HP:0002247 Duodenal atresia skos:exactMatch 1 MP:0003272 duodenal atresia semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-01-25 KidsFirst HP:0002248 Hematemesis skos:exactMatch 1 MP:0003261 hematemesis semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32325065 HP:0002249 Melena skos:exactMatch 1 MP:0003292 melena semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32325065 HP:0002283 Global brain atrophy skos:relatedMatch 0.9 MP:0012506 brain atrophy semapv:ManualMappingCuration orcid:0000-0003-2307-1226 2021-07-29 Alzheimer HP:0002301 Hemiplegia skos:exactMatch 1 MP:0031202 hemiplegia semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32343504 HP:0002321 Vertigo skos:relatedMatch 1 MP:0001525 impaired balance semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID; HPO term related syonym = Dizziness PMID:32574165, PMID:32275288, PMID:32931322 HP:0002374 Diminished movement skos:relatedMatch 1 MP:0001402 hypoactivity semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID; related Match due to distinction between mobility (ability to move) and movement PMID:34083350, PMID:33893486 HP:0002383 Encephalitis skos:exactMatch 1 MP:0001847 brain inflammation semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32464367 HP:0002408 Cerebral arteriovenous malformation skos:exactMatch 1 MP:0010530 cerebral arteriovenous malformation semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2021-05-27 KidsFirst HP:0002414 Spina bifida skos:exactMatch 1 MP:0003054 spina bifida semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2021-05-27 KidsFirst HP:0002435 Meningocele skos:exactMatch 0.8 MP:0012259 meningocele semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2022-01-28 KidsFirst; the HPO definition specifies vertebral column but 2 of the children are for skull related defects. MP term specifies base of skull or gaps in vertebrae I think these are intended to be exact matches but definition issues contributes to uncertainty. Tabers definition has defect in skull spinal column HP:0002446 Astrocytosis skos:exactMatch 1 MP:0003354 astrocytosis semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32820884, PMID:33031735 HP:0002475 Myelomeningocele skos:exactMatch 1 MP:0009929 meningomyelocele semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2021-05-27 KidsFirst HP:0002500 Abnormal cerebral white matter morphology skos:narrowMatch 0.6 MP:0008026 abnormal brain white matter morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0003-2307-1226 2023-11-15 Alzheimer HP:0002539 Cortical dysplasia skos:narrowMatch 1 MP:0000788 abnormal cerebral cortex morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2021-05-27 KidsFirst; MP term does not specificy developmental cause, also note MP has a separate term for abnormal neocortex morphology, MP term is an exact match to HP:0002538 Abnormal cerebral cortex morphology HP:0002566 Intestinal malrotation skos:narrowMatch 0.6 MP:0014023 abnormal intestine placement semapv:ManualMappingCuration orcid:0000-0002-6490-7723|orcid:0000-0003-4606-0597 2021-05-27 KidsFirst; MP:0014023 lacks written definition, the eq uses PATO 'position' which includes orientation so I think the MP term would include the HP phenotypes as well as other placement related phenotypes. We need to add a definition to the MP term HP:0002575 Tracheoesophageal fistula skos:exactMatch 1 MP:0003321 tracheoesophageal fistula semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2021-05-27 KidsFirst HP:0002605 Hepatic necrosis skos:exactMatch 1 MP:0001654 hepatic necrosis semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32369204 HP:0002615 Hypotension skos:exactMatch 1 MP:0001596 hypotension semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32439197 HP:0002616 Aortic root aneurysm skos:narrowMatch 1 MP:0011575 dilated aorta bulb semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-01-25 KidsFirst; MP term does not include localized in the definition, there are MGI annotations that specify aneurysm, so add new term HP:0002624 Abnormal venous morphology skos:exactMatch 1 MP:0002725 abnormal vein morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2021-05-27 KidsFirst; add synonym HP:0002625 Deep venous thrombosis skos:broadMatch 1 MP:0031158 abnormal venous thrombosis semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32354800, PMID:32469410 HP:0002633 Vasculitis skos:exactMatch 1 MP:0001863 blood vessel inflammation semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2021-12-31 COVID PMID:32619411, https://doi.org/10.1016/S0140-6736(20)30937-5, https://doi.org/10.1038/s41569-020-0413-9 HP:0002637 Cerebral ischemia skos:exactMatch 0.9 MP:0006080 brain ischemia semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID; MP term definition inadequate blood flow to a region of the brain that may lead to cerebral infarction implies that this term is for cerebral ischemia and not for other regions of the brain, also cerebral ischemia is an exact synonym PMID:32360439, PMID:32354768 HP:0002648 Abnormality of calvarial morphology skos:broadMatch 1 MP:0030315 small neurocranium semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-08-02 scoliosis HP:0002650 Scoliosis skos:exactMatch 1 MP:0000161 scoliosis semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-08-02 KidsFirst, scoliosis HP:0002659 Increased susceptibility to fractures skos:exactMatch 1 MP:0000061 fragile skeleton semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-08-01 scoliosis HP:0002672 Gastrointestinal carcinoma skos:relatedMatch 0.8 MP:0010279 increased gastrointestinal tumor incidence semapv:ManualMappingCuration orcid:0000-0002-6490-7723|orcid:0000-0003-4606-0597 2021-05-27 KidsFirst; MP term covers all types of GI tumors, not sure if related or broad is the better match term HP:0002716 Lymphadenopathy skos:exactMatch 1 MP:0000702 enlarged lymph nodes semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32118615 HP:0002732 Lymph node hypoplasia skos:relatedMatch 1 MP:0031071 lymph node atrophy semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32303696 HP:0002744 Bilateral cleft lip and palate skos:relatedMatch 1 MP:0000111 cleft palate semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-01-25 KidsFirst; combination phenotype, should consider filling out this branch of MP HP:0002744 Bilateral cleft lip and palate skos:relatedMatch 1 MP:0005170 cleft upper lip semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-01-25 KidsFirst HP:0002751 Kyphoscoliosis skos:exactMatch 1 MP:0000069 kyphoscoliosis semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-08-02 scoliosis HP:0002753 Thin bony cortex skos:exactMatch 1 MP:0000135 decreased compact bone thickness semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-07-29 scoliosis HP:0002763 Abnormal cartilage morphology skos:broadMatch 1 MP:0003409 decreased width of hypertrophic chondrocyte zone semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-08-01 scoliosis HP:0002763 Abnormal cartilage morphology skos:broadMatch 1 MP:0003869 ectopic cartilage semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-08-01 scoliosis HP:0002777 Tracheal stenosis skos:exactMatch 1 MP:0010883 trachea stenosis semapv:ManualMappingCuration orcid:0000-0002-6490-7723 2021-09-20 KidsFirst HP:0002779 Tracheomalacia skos:exactMatch 1 MP:0013753 tracheomalacia semapv:ManualMappingCuration orcid:0000-0002-6490-7723|orcid:0000-0003-4606-0597 2022-08-10 KidsFirst; HPO provides no textual definition (only synonym) match is based on xrefs of the HPO term as well as term name and synonym HP:0002786 Tracheobronchomalacia skos:exactMatch 1 MP:0031308 tracheobronchomalacia semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-08-10 KidsFirst; MP term does not provide functional consequences but given that this is a may have I think we can ignore the difference HP:0002789 Tachypnea skos:exactMatch 1 MP:0005426 tachypnea semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32539988 HP:0002789 Tachypnea skos:narrowMatch 0.8 MP:0005573 increased pulmonary respiratory rate semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2022-09-13 COVID; HPO exact synonym = Increased respiratory rate or depth of breathing, given that tachypnea is a child of this MP term I'm assuming the MP term covers cases of increased respiratory rate that would not reach the level of tachypnea, if not these terms should be merged in the MP PMID:32539988 HP:0002808 Kyphosis skos:exactMatch 1 MP:0000160 kyphosis semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-08-02 KidsFirst, scoliosis HP:0002815 Abnormality of the knee skos:broadMatch 1 MP:0030837 abnormal knee joint morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-07-28 scoliosis HP:0002823 Abnormality of femur morphology skos:broadMatch 1 MP:0008152 decreased diameter of femur semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-07-29 scoliosis HP:0002836 Bladder exstrophy skos:exactMatch 1 MP:0013282 urinary bladder exstrophy semapv:ManualMappingCuration orcid:0000-0002-6490-7723 2021-12-20 KidsFirst HP:0002860 Squamous cell carcinoma skos:relatedMatch 1 MP:0009704 increased skin squamous cell carcinoma incidence semapv:ManualMappingCuration orcid:0000-0002-6490-7723 2021-09-20 KidsFirst HP:0002878 Respiratory failure skos:exactMatch 1 MP:0001953 respiratory failure semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32526193, PMID:32620220 HP:0002890 Thyroid carcinoma skos:relatedMatch 1 MP:0010346 increased thyroid carcinoma incidence semapv:ManualMappingCuration orcid:0000-0002-6490-7723 2021-09-20 KidsFirst HP:0002895 Papillary thyroid carcinoma skos:relatedMatch 1 MP:0010346 increased thyroid carcinoma incidence semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2021-05-27 KidsFirst HP:0002900 Hypokalemia skos:exactMatch 1 MP:0004119 hypokalemia semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32266828 HP:0002901 Hypocalcemia skos:exactMatch 1 MP:0000195 decreased circulating calcium level semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32266828 HP:0002902 Hyponatremia skos:exactMatch 1 MP:0005634 decreased circulating sodium level semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32266828 HP:0002904 Hyperbilirubinemia skos:exactMatch 1 MP:0005344 increased circulating bilirubin level semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 KidsFirst, COVID PMID:32007143, PMID:32274341, PMID:32311826 HP:0002937 Hemivertebrae skos:exactMatch 0.9 MP:0008832 hemivertebra semapv:ManualMappingCuration orcid:0000-0002-6490-7723|orcid:0000-0003-4606-0597 2022-08-10 KidsFirst; MP definition specifies congenital malformation of the spine in which only half of a vertebral body develops, checking the comment and cross-references on the HPO term I (smb) think these are exact HP:0002948 Vertebral fusion skos:exactMatch 1 MP:0004609 vertebral fusion semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-08-10 KidsFirst, scoliosis HP:0002948 Vertebral fusion skos:broadMatch 1 MP:0004612 fusion of vertebral bodies semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-08-02 scoliosis HP:0002948 Vertebral fusion skos:broadMatch 1 MP:0004613 fusion of vertebral arches semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-08-02 scoliosis HP:0002982 Tibial bowing skos:exactMatch 1 MP:0004358 bowed tibia semapv:ManualMappingCuration orcid:0000-0002-6490-7723 2021-11-11 KidsFirst HP:0002986 Radial bowing skos:exactMatch 1 MP:0004374 bowed radius semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-07-29 scoliosis HP:0003003 Colon cancer skos:relatedMatch 1 MP:0012436 increased colon tumor incidence semapv:ManualMappingCuration orcid:0000-0002-6490-7723 2021-09-20 KidsFirst HP:0003005 Ganglioneuroma skos:relatedMatch 1 MP:0010362 increased ganglioneuroma incidence semapv:ManualMappingCuration orcid:0000-0002-6490-7723 2021-09-20 KidsFirst; MP term definition is based on MPATH:375 and does not specify where ganglioneuroma arises HP:0003006 Neuroblastoma skos:relatedMatch 1 MP:0002039 increased neuroblastoma incidence semapv:ManualMappingCuration orcid:0000-0002-6490-7723|orcid:0000-0003-4606-0597 2021-05-27 KidsFirst HP:0003026 Short long bone skos:exactMatch 1 MP:0004686 decreased length of long bones semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-07-29 scoliosis HP:0003073 Hypoalbuminemia skos:exactMatch 1 MP:0005419 decreased circulating serum albumin level semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32007143, PMID:32311826 HP:0003074 Hyperglycemia skos:narrowMatch 0.8 MP:0001559 hyperglycemia semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID; MP term specifies pathology but HPO does not, unclear if the symptom implies pathological PMID:32007143, PMID:32360710 HP:0003074 Hyperglycemia skos:exactMatch 1 MP:0005559 increased circulating glucose level semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID; MP has a separate term for hyperglycemia (MP:0001559) that has as part of the definition generally refers to a pathological state. The HPO term Hyperglycemia is defined as An increased concentration of glucose in the blood. making it a better match to the MP term increased circulating glucose level defined as greater than the normal concentration in the blood of this major monosaccharide of the body; it is an important energy source PMID:32007143 HP:0003097 Short femur skos:exactMatch 1 MP:0003109 short femur semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-08-02 scoliosis HP:0003103 Abnormal cortical bone morphology skos:broadMatch 1 MP:0010965 decreased compact bone volume semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-07-29 scoliosis HP:0003116 Abnormal echocardiogram skos:exactMatch 1 MP:0011925 abnormal heart echocardiography feature semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32426088, PMID:32595004, PMID:32885490, PMID:32469253 HP:0003118 Increased circulating cortisol level skos:exactMatch 1 MP:0014161 increased circulating cortisol level semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32563278 HP:0003138 Increased blood urea nitrogen skos:exactMatch 1 MP:0005565 increased blood urea nitrogen level semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32620220 HP:0003155 Elevated circulating alkaline phosphatase concentration skos:exactMatch 1 MP:0002968 increased circulating alkaline phosphatase level semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:35007991 HP:0003201 Rhabdomyolysis skos:exactMatch 1 MP:0031112 rhabdomyolysis semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32382463, PMID:32197060, PMID:32620220 HP:0003236 Elevated serum creatine kinase skos:exactMatch 1 MP:0010090 increased circulating creatine kinase level semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID; HPO definition specifies blood PMID:32007143, PMID:32311826, PMID:32587625, PMID:32620220 HP:0003244 Penile hypospadias skos:exactMatch 1 MP:0031294 penile hypospadia semapv:ManualMappingCuration orcid:0000-0002-6490-7723 2021-12-20 KidsFirst HP:0003256 Abnormality of the coagulation cascade skos:broadMatch 1 MP:0002551 abnormal blood coagulation semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID; MP term related synonym = coagulopathy; HPO term exact synonym = Coagulopathy, defintion of coagulopathy from Taber's is defect in coaguation uncertainty related to defect are all changes to coagulation cascade automatically defects? Inclined to say no hence the skos:broadMatch mapping. PMID:32508062, PMID:32415579, PMID:32467443 HP:0003259 Elevated circulating creatinine concentration skos:exactMatch 1 MP:0010064 increased circulating creatine level semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID; serum vs blood PMID:32475810 HP:0003270 Abdominal distention skos:exactMatch 1 MP:0001270 distended abdomen semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-08-01 scoliosis HP:0003281 Increased circulating ferritin concentration skos:exactMatch 1 MP:0011890 increased circulating ferritin level semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2023-11-15 COVID PMID:32007143 HP:0003298 Spina bifida occulta skos:exactMatch 1 MP:0005297 spina bifida occulta semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-01-28 KidsFirst HP:0003302 Spondylolisthesis skos:narrowMatch 1 MP:0031313 spondylolisthesis semapv:ManualMappingCuration orcid:0000-0002-6490-7723 2021-10-25 KidsFirst; Spondylolisthesis is etymologically directionless and can be applied to both anterolisthesis and retrolisthesis. In clinical practice, spondylolisthesis is used synonymously with anterolisthesis. Often, particularly in the lower lumbar spine, it is due to spondylolysis (pars interarticularis defects). The MP term defintion includes both directions whereas the HPO term definition specifies anterior slippage due to complete bilateral fractures of the pars interarticularis. HP:0003304 Spondylolysis skos:narrowMatch 1 MP:0031312 spondylolysis semapv:ManualMappingCuration orcid:0000-0002-6490-7723 2021-10-25 KidsFirst; MP term doe not specify developmental or acquired stress fracture and secondary to chronic low-grade trauma HP:0003307 Hyperlordosis skos:exactMatch 1 MP:0000162 lordosis semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-08-02 scoliosis HP:0003312 Abnormal form of the vertebral bodies skos:exactMatch 1 MP:0000141 abnormal vertebral body morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-07-29 scoliosis HP:0003312 Abnormal form of the vertebral bodies skos:broadMatch 1 MP:0005227 abnormal vertebral body development semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-07-29 scoliosis; MP has body and arch as siblings but HP has arch as a child of body but both use the same Uberon term HP:0003316 Butterfly vertebrae skos:narrowMatch 1 MP:0000141 abnormal vertebral body morphology semapv:ManualMappingCuration orcid:0000-0002-6490-7723 2021-12-20 KidsFirst; consider adding a term for vertebral body cleft, there are a number of existing annotations for split vertebrae HP:0003330 Abnormal bone structure skos:broadMatch 1 MP:0004016 decreased bone mass semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-07-29 scoliosis HP:0003330 Abnormal bone structure skos:broadMatch 1 MP:0004989 decreased osteoblast cell number semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-08-01 scoliosis HP:0003330 Abnormal bone structure skos:broadMatch 1 MP:0010124 decreased bone mineral content semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-07-29 scoliosis HP:0003330 Abnormal bone structure skos:broadMatch 1 MP:0010876 decreased bone volume semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-07-29 scoliosis HP:0003336 Abnormal enchondral ossification skos:relatedMatch 0.9 MP:0008272 abnormal endochondral bone ossification semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-11-15 scoliosis; HPO definition states process but placement is under morphology, see bone ossification for more HP:0003468 Abnormal vertebral morphology skos:exactMatch 1 MP:0000137 abnormal vertebrae morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-07-29 scoliosis HP:0003468 Abnormal vertebral morphology skos:broadMatch 1 MP:0003049 abnormal lumbar vertebrae morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-07-28 scoliosis HP:0003468 Abnormal vertebral morphology skos:broadMatch 1 MP:0004610 small vertebrae semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-08-02 scoliosis HP:0003468 Abnormal vertebral morphology skos:broadMatch 1 MP:0006394 abnormal vertebral epiphyseal plate morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-07-29 scoliosis HP:0003470 Paralysis skos:exactMatch 1 MP:0000753 paralysis semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32538857 HP:0003546 Exercise intolerance skos:exactMatch 0.9 MP:0012106 impaired exercise endurance semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID https://doi.org/10.1101/2020.10.15.20205054 HP:0003558 Viral infection-induced rhabdomyolysis skos:broadMatch 1 MP:0031112 rhabdomyolysis semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32542129 HP:0003563 Decreased LDL cholesterol concentration skos:exactMatch 1 MP:0000183 decreased circulating LDL cholesterol level semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID; HPO term specifies blood in the definition. Serum vs circulating/blood is the reason for skos:closeMatch rather than skos:exactMatch PMID:32430154, https://doi.org/10.1101/2020.10.06.20207092 HP:0003565 Elevated erythrocyte sedimentation rate skos:exactMatch 1 MP:0031063 increased erythrocyte sedimentation rate semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32371463, PMID:32007143 HP:0003572 Low plasma citrulline skos:exactMatch 0.9 MP:0020837 decreased circulating citrulline level semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2023-11-15 COVID; frequent issue of the distinction between circulating/plasma/blood - depending on how the measurement is made these may be skos:exactMatch or may involve additional constituents of the blood, switched to exact, the label states plasma but the text and logical definitions have 'blood' PMID:32646736 HP:0003645 Prolonged partial thromboplastin time skos:exactMatch 1 MP:0012359 increased partial thromboplastin time semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32007143, PMID:32311826 HP:0003713 Muscle fiber necrosis skos:narrowMatch 1 MP:0010632 cardiac muscle necrosis semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32354800, PMID:32352535 HP:0003750 Increased muscle fatiguability skos:exactMatch 1 MP:0003646 muscle fatigue semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32464367 HP:0004209 Clinodactyly of the 5th finger skos:narrowMatch 1 MP:0006253 clinodactyly semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-01-28 KidsFirst HP:0004307 Abnormal anatomic location of the heart skos:exactMatch 0.8 MP:0006065 abnormal heart position or orientation semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2021-05-27 KidsFirst; HPO defintion does not mention orientation but child terms include orientation specific ones so I'm assuming these are exact HP:0004322 Short stature skos:relatedMatch 0.9 MP:0001255 decreased body height semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2021-05-27 KidsFirst; MP height is defined as shoulder to floor while length is defined as head and trunk neither is quite the same as stature in human which I'm assuming is crown of head to floor HP:0004322 Short stature skos:relatedMatch 0.9 MP:0001258 decreased body length semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2021-05-27 KidsFirst HP:0004322 Short stature skos:narrowMatch 1 MP:0001265 decreased body size semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2021-05-27 KidsFirst; includes height, length and weight plus other terms HP:0004323 Abnormality of body weight skos:broadMatch 0.8 MP:0003961 decreased lean body mass semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-07-29 scoliosis; mapping based on definition of HP term An abnormal increase or decrease of weight or an abnormal distribution of mass in the body. primarily the statement about distribution HP:0004325 Decreased body weight skos:exactMatch 1 MP:0001262 decreased body weight semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-07-29 scoliosis HP:0004348 Abnormality of bone mineral density skos:relatedMatch 0.8 MP:0002896 abnormal bone mineralization semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-07-28 scoliosis; MP term is about the process, HP term is about the morphological outcome, note the MP has a separate term for abnormal bone mineral density HP:0004349 Reduced bone mineral density skos:exactMatch 1 MP:0000063 decreased bone mineral density semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-07-29 scoliosis HP:0004349 Reduced bone mineral density skos:broadMatch 1 MP:0013616 decreased volumetric bone mineral density semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-08-01 scoliosis HP:0004383 Hypoplastic left heart skos:narrowMatch 1 MP:0002740 heart hypoplasia semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2021-05-27 KidsFirst; child of heart hypoplasia (MP:0002740), 1 existing annotation HP:0004408 Abnormality of the sense of smell skos:narrowMatch 1 MP:0030988 dysosmia semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32581854 HP:0004409 Hyposmia skos:exactMatch 1 MP:0008544 impaired olfaction semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID; MP term exact synonym = hyposmia PMID:32464367, PMID:32587625 HP:0004415 Pulmonary artery stenosis skos:exactMatch 1 MP:0010457 pulmonary artery stenosis semapv:ManualMappingCuration orcid:0000-0002-6490-7723 2022-01-25 KidsFirst; MP definition does not specify main pulmonary artery and/or left or right pulmonary artery branches HP:0004420 Arterial thrombosis skos:broadMatch 1 MP:0031157 abnormal arterial thrombosis semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32425264, PMID:32415579 HP:0004936 Venous thrombosis skos:broadMatch 1 MP:0031158 abnormal venous thrombosis semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32415579 HP:0004942 Aortic aneurysm skos:narrowMatch 0.9 MP:0006278 aortic aneurysm semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-11-15 KidsFirst; uncertainty based on specificity of HPO definition relative to MP definition, usage may not always be exact so I went with narrow HP:0004969 Peripheral pulmonary artery stenosis skos:narrowMatch 1 MP:0010457 pulmonary artery stenosis semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-01-28 KidsFirst HP:0004970 Ascending tubular aorta aneurysm skos:narrowMatch 1 MP:0010483 ascending aorta aneurysm semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-01-28 KidsFirst HP:0005107 Abnormal sacrum morphology skos:narrowMatch 1 MP:0003050 abnormal sacral vertebrae morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-01-31 KidsFirst HP:0005107 Abnormal sacrum morphology skos:exactMatch 1 MP:0010113 abnormal sacrum morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-01-28 KidsFirst; MP defintion specifies that the sacrum occurs in humans and tailess primates but we have mouse annotations??? Possibly it would better to map to the more sacral vertebrae term? HP:0005108 Abnormal intervertebral disk morphology skos:exactMatch 1 MP:0004173 abnormal intervertebral disk morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-07-28 scoliosis HP:0005108 Abnormal intervertebral disk morphology skos:broadMatch 1 MP:0004682 small intervertebral disk semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-08-02 scoliosis HP:0005108 Abnormal intervertebral disk morphology skos:broadMatch 1 MP:0005229 abnormal intervertebral disk development semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-07-28 scoliosis HP:0005108 Abnormal intervertebral disk morphology skos:broadMatch 1 MP:0006392 abnormal nucleus pulposus morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-07-29 scoliosis HP:0005110 Atrial fibrillation skos:exactMatch 1 MP:0008543 atrial fibrillation semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32352535 HP:0005116 Arterial tortuosity skos:relatedMatch 0.9 MP:0031132 increased artery tortuosity semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2021-05-27 KidsFirst; Possibly these could be considered exact, but MP allows for a baseline of tortuosity to exist and the the term covers only an increase relative to some control HP:0005133 Right ventricular dilatation skos:exactMatch 1 MP:0002754 dilated heart right ventricle semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32469253, PMID:32426088 HP:0005160 Total anomalous pulmonary venous return skos:exactMatch 1 MP:0010441 total anomalous pulmonary venous connection semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-01-28 KidsFirst HP:0005262 Abnormality of the synovia skos:broadMatch 1 MP:0008148 abnormal sternocostal joint morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-07-29 scoliosis HP:0005301 Persistent left superior vena cava skos:relatedMatch 1 MP:0006064 abnormal superior vena cava morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-01-28 KidsFirst; MP has a term for abnormal left vena cava superior connection but this lacks a definition so it is unclear how it relates to the HPO term. Ticket https://github.com/mgijax/mammalian-phenotype-ontology/issues/3501 HP:0005305 Cerebral venous thrombosis skos:broadMatch 1 MP:0031160 abnormal cerebral venous thrombosis semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32414532 HP:0005344 Abnormal carotid artery morphology skos:exactMatch 1 MP:0004181 abnormal carotid artery morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2021-05-27 KidsFirst HP:0005415 Decreased proportion of CD8-positive T cells skos:relatedMatch 1 MP:0008079 decreased CD8-positive, alpha-beta T cell number semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32505227, PMID:32379887, PMID:32283159 HP:0005521 Disseminated intravascular coagulation skos:relatedMatch 1 MP:0031214 hypercoagulability semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32354800 HP:0005561 Abnormality of bone marrow cell morphology skos:narrowMatch 0.9 MP:0002398 abnormal bone marrow cell morphology/development semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-07-28 scoliosis; MP term includes developmental cell types that may not be included in the HP term HP:0005645 Intervertebral disk calcification skos:exactMatch 1 MP:0004685 calcified intervertebral disk semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-07-29 scoliosis; MP def has process in the text but is placed under morphology, we should review this, fixed HP:0005792 Short humerus skos:exactMatch 1 MP:0004351 short humerus semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-08-02 scoliosis HP:0005815 Supernumerary ribs skos:narrowMatch 1 MP:0000480 increased number of ribs semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2021-07-15 KidsFirst; MP specifies greater than normal number while HPO specifies what the normal number is for humans, conceptually these are the same but MP is broader to cover species with a different normal rib number HP:0005972 Respiratory acidosis skos:exactMatch 1 MP:0012550 respiratory acidosis semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32375488 HP:0006515 Interstitial pneumonitis skos:exactMatch 1 MP:0001862 interstitial pneumonia semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32526193 HP:0006517 Alveolar proteinosis skos:exactMatch 1 MP:0010998 pulmonary alveolar proteinosis semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32572155 HP:0006687 Aortic tortuosity skos:relatedMatch 0.9 MP:0031133 increased aorta tortuosity semapv:ManualMappingCuration orcid:0000-0002-6490-7723 2021-12-20 KidsFirst; Possibly exact but the MP term allows for a baseline of tortuosity to exist and the term covers only an increase relative to some control HP:0006704 Abnormal coronary artery morphology skos:exactMatch 1 MP:0004111 abnormal coronary artery morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2021-05-27 KidsFirst HP:0006707 Abnormality of the hepatic vasculature skos:exactMatch 1 MP:0009820 abnormal liver vasculature morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2021-05-27 KidsFirst HP:0006743 Embryonal rhabdomyosarcoma skos:relatedMatch 1 MP:0002036 increased rhabdomyosarcoma incidence semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-01-25 KidsFirst HP:0007009 Central nervous system degeneration skos:narrowMatch 1 MP:0002229 neurodegeneration semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2021-05-27 KidsFirst; MP has a specific term for peripheral but no term for central, I think Cindy removed most of the peripheral/central terms at one point possibly the peripheral one was missed? HP:0007033 Cerebellar dysplasia skos:narrowMatch 1 MP:0000849 abnormal cerebellum morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2021-07-15 KidsFirst; While the morphology term has dysplasia as an exact synonym not all of the phenotypes under this term relate to growth or development thus it is broader than the HPO term. Conversely the developmnet term is I think narrower as some phenotypes seen in adults that are the end product of developmental issues will only appear under morphology HP:0007033 Cerebellar dysplasia skos:broadMatch 0.9 MP:0000854 abnormal cerebellum development semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2021-07-15 KidsFirst HP:0007112 temporal cortical atrophy skos:relatedMatch 0.9 MP:0021008 temporal lobe atrophy semapv:ManualMappingCuration orcid:0000-0003-2307-1226 2021-07-29 Alzheimer HP:0007222 CNS demyelination skos:broadMatch 1 MP:0000921 demyelination semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32367205 HP:0007628 Mandibular condyle hypoplasia skos:exactMatch 1 MP:0030259 mandibular condyloid process hypoplasia semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2021-05-27 KidsFirst HP:0007633 Bilateral microphthalmos skos:exactMatch 1 MP:0031290 bilateral microphthalmia semapv:ManualMappingCuration orcid:0000-0002-6490-7723 2021-09-20 KidsFirst; new term, parent would be MP:0001297 HP:0007970 Congenital ptosis skos:narrowMatch 1 MP:0001344 blepharoptosis semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2021-05-27 KidsFirst; MP term does not specify congenital HP:0008066 Abnormal blistering of the skin skos:exactMatch 1 MP:0001208 blistering semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32390279 HP:0008081 Pes valgus skos:exactMatch 1 MP:0031291 pes valgus semapv:ManualMappingCuration orcid:0000-0002-6490-7723 2021-09-20 KidsFirst; new term, parent would be abnormal autopod morphology, need to consider if this would be hindlimb autopod specific HP:0008151 Prolonged prothrombin time skos:exactMatch 1 MP:0012356 increased prothrombin time semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32007143, PMID:32311826 HP:0008165 Decreased helper T cell proportion skos:relatedMatch 1 MP:0013764 decreased T-helper cell number semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID; HPO term is T cell count relative to total number so if some other type of T cell is increased the proportion of T-helper cells may be decreased without a change in the number of T-helper cells PMID:32161940 HP:0008438 Vertebral arch anomaly skos:broadMatch 1 MP:0004600 abnormal vertebral transverse process morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-07-29 scoliosis HP:0008438 Vertebral arch anomaly skos:broadMatch 1 MP:0004602 abnormal vertebral articular process morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-07-29 scoliosis HP:0008516 Abnormality of the vertebral spinous processes skos:exactMatch 1 MP:0004601 abnormal vertebral spinous process morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-07-29 scoliosis HP:0008551 Microtia skos:narrowMatch 0.9 MP:0000018 small ears semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2021-05-27 KidsFirst; this one just specifies reduced size, can you have reduced size that is not underdevelopment HP:0008551 Microtia skos:exactMatch 1 MP:0030297 outer ear hypoplasia semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2021-05-27 KidsFirst HP:0008682 Renal tubular epithelial necrosis skos:broadMatch 1 MP:0004154 renal tubular necrosis semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID; Publications mentions - frank necrosis, debris composed of necrotic epithelium in tubular lumens, focal acute tubular necrosis; MP term covers all tubule necrosis HP only epithelial necrosis PMID:32327202, https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7461690/ HP:0008780 Congenital bilateral hip dislocation skos:narrowMatch 1 MP:0030796 hip dislocation semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-01-31 KidsFirst HP:0009121 Abnormal axial skeleton morphology skos:exactMatch 1 MP:0002114 abnormal axial skeleton morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-07-28 scoliosis; note MP def. does not mention ribs and sternum but these are included in the child terms HP:0009792 Teratoma skos:relatedMatch 1 MP:0002627 increased teratoma incidence semapv:ManualMappingCuration orcid:0000-0002-6490-7723 2021-12-20 KidsFirst; HPO does not actually define teratoma whereas MP does HP:0009926 Epiphora skos:exactMatch 1 MP:0001349 epiphora semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32232433 HP:0010296 Ankyloglossia skos:exactMatch 1 MP:0013264 tongue ankylosis semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2021-05-27 KidsFirst HP:0010305 Absence of the sacrum skos:relatedMatch 1 MP:0004656 absent sacral vertebrae semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-01-31 KidsFirst HP:0010305 Absence of the sacrum skos:narrowMatch 1 MP:0010113 abnormal sacrum morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-01-31 KidsFirst; As the sacrum is formed by fusion of the sacral vertebrae in humans and tailles primates would it be better to map to absent sacral vertebrae HP:0010309 Bifid sternum skos:exactMatch 1 MP:0004320 split sternum semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2021-05-27 KidsFirst HP:0010438 Abnormal ventricular septum morphology skos:exactMatch 1 MP:0000281 abnormal interventricular septum morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2021-05-27 KidsFirst HP:0010445 Primum atrial septal defect skos:exactMatch 1 MP:0010404 ostium primum atrial septal defect semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-01-25 KidsFirst HP:0010448 Colonic atresia skos:exactMatch 1 MP:0031343 colon atresia semapv:ManualMappingCuration orcid:0000-0002-6490-7723 2021-12-20 KidsFirst; MP term specifies congenital whereas HPO does not specify congenital and uses large intestine in exact synonyms HP:0010478 Abnormality of the urachus skos:exactMatch 0.8 MP:0003616 abnormal urachus morphology semapv:ManualMappingCuration orcid:0000-0002-6490-7723|orcid:0000-0003-4606-0597 2021-12-20 KidsFirst; HPO provides no textual definition, placement in HPO would suggest this is morphology but the eq uses quality not morphology HP:0010492 Osseous finger syndactyly skos:narrowMatch 0.8 MP:0008730 fused phalanges semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-01-25 KidsFirst; MP term is not limited to fingers but given defintions and placement I think MP term is better mapped as broad rather than related HP:0010614 Fibroma skos:relatedMatch 1 MP:0003580 increased fibroma incidence semapv:ManualMappingCuration orcid:0000-0002-6490-7723 2021-12-20 KidsFirst HP:0010674 Abnormality of the curvature of the vertebral column skos:exactMatch 1 MP:0004174 abnormal spine curvature semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-07-29 scoliosis HP:0010735 Polyostotic fibrous dysplasia skos:exactMatch 1 MP:0031350 polyostotic fibrous dysplasia semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2022-02-01 KidsFirst; see ticket https://github.com/mgijax/mammalian-phenotype-ontology/issues/3497 HP:0010773 Partial anomalous pulmonary venous return skos:exactMatch 1 MP:0010442 partial anomalous pulmonary venous connection semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-02-02 KidsFirst HP:0010775 Vascular ring skos:exactMatch 1 MP:0010466 vascular ring semapv:ManualMappingCuration orcid:0000-0002-6490-7723|orcid:0000-0003-4606-0597 2021-07-15 KidsFirst HP:0010796 Brainstem glioma skos:relatedMatch 0.8 MP:0010278 increased glioma incidence semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-02-02 KidsFirst; this is both broad and related, possibly we should add a term for brain glioma incidence to get a closer term HP:0010880 Increased nuchal translucency skos:narrowMatch 1 MP:0012723 abnormal nuchal region morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-02-02 KidsFirst HP:0010945 Fetal pyelectasis skos:narrowMatch 1 MP:0000519 hydronephrosis semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-01-26 KidsFirst HP:0010959 Congenital cystic adenomatoid malformation of the lung skos:narrowMatch 1 MP:0004880 lung cyst semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-02-02 KidsFirst HP:0010960 Bronchopulmonary sequestration skos:narrowMatch 0.9 MP:0004880 lung cysts semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2021-05-27 KidsFirst; not inclined to add a new MP term as I think it is likely to be misused but we can if needed HP:0011035 Abnormal renal cortex morphology skos:exactMatch 1 MP:0000521 abnormal kidney cortex morphology semapv:ManualMappingCuration orcid:0000-0002-6490-7723 2021-12-20 KidsFirst HP:0011037 Decreased urine output skos:narrowMatch 1 MP:0003620 oliguria semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID; MP term exact synonym = decreased urine output, however the HPO term covers both decreased and absent while the MP term is only decreased ticket - https://github.com/mgijax/mammalian-phenotype-ontology/issues/3492 PMID:32533197 HP:0011102 Ileal atresia skos:broadMatch 1 MP:0011879 ileum atresia semapv:ManualMappingCuration orcid:0000-0002-6490-7723 2021-12-20 KidsFirst; The MP term is more narrow as it specifies congenital blockage or absence of the lumen of the ileum HP:0011106 Hypovolemia skos:exactMatch 1 MP:0010128 hypovolemia semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32274341 HP:0011112 Abnormality of serum cytokine level skos:narrowMatch 1 MP:0008553 increased circulating tumor necrosis factor level semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2021-12-31 COVID PMID:31986264, PMID:32387470 HP:0011112 Abnormality of serum cytokine level skos:broadMatch 1 MP:0010210 abnormal circulating cytokine level semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID; HPO definition specifies blood not serum PMID:32505227, PMID:31986264 HP:0011112 Abnormality of serum cytokine level skos:narrowMatch 1 MP:0031220 increased circulating CXCL10 level semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32360286, PMID:31986264 HP:0011227 Elevated circulating C-reactive protein concentration skos:exactMatch 1 MP:0031059 increased circulating C-reactive protein level semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32368728, PMID:32007143, PMID:32311826, PMID:32531257 HP:0011227 Elevated C-reactive protein level skos:exactMatch 1 MP:0031059 increased circulating C-reactive protein level semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32368728 HP:0011297 Abnormal digit morphology skos:exactMatch 1 MP:0002110 abnormal digit morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-02-02 KidsFirst HP:0011297 Abnormal digit morphology skos:broadMatch 1 MP:0005306 abnormal phalanx morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-07-29 scoliosis HP:0011390 Morphological abnormality of the inner ear skos:exactMatch 1 MP:0000026 abnormal inner ear morphology semapv:ManualMappingCuration orcid:0000-0002-6490-7723 2021-12-20 KidsFirst HP:0011420 Age of death skos:broadMatch 1 MP:0002083 premature death semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-08-02 scoliosis HP:0011420 Age of death skos:broadMatch 1 MP:0011100 preweaning lethality, complete penetrance semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-08-02 scoliosis HP:0011480 Unilateral microphthalmos skos:exactMatch 1 MP:0031289 unilateral microphthalmia semapv:ManualMappingCuration orcid:0000-0002-6490-7723 2021-09-20 KidsFirst; new term, parent would be MP:0001297 HP:0011546 Abnormal atrioventricular connection skos:exactMatch 1 MP:0010435 abnormal heart atrium and ventricle connection semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2021-05-27 KidsFirst; add synonym HP:0011563 Abnormal ventriculoarterial connection skos:narrowMatch 0.6 MP:0010426 abnormal heart and great artery attachment semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2021-05-27 KidsFirst; unclear if all the great arteries are included in the HPO term HP:0011570 Congenital mitral stenosis skos:narrowMatch 1 MP:0006122 mitral valve stenosis semapv:ManualMappingCuration orcid:0000-0002-6490-7723 2021-12-20 KidsFirst; MP term does not specify congenital onset and is thus an exact match to HPO term Mitral stenosis HP:0005163 rather than Congenital mitral stenosis HP:0011570 HP:0011590 Double aortic arch skos:exactMatch 1 MP:0004159 double aortic arch semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-01-27 KidsFirst HP:0011611 Interrupted aortic arch skos:exactMatch 1 MP:0004157 interrupted aortic arch semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-02-02 KidsFirst HP:0011620 Abnormality of abdominal situs skos:exactMatch 1 MP:0031284 abdominal situs abnormality semapv:ManualMappingCuration orcid:0000-0002-6490-7723|orcid:0000-0003-4606-0597 2021-05-27 KidsFirst; MP has MP:0011250 and MP:0011249 but not the parent grouping term HP:0011623 Muscular ventricular septal defect skos:exactMatch 1 MP:0010420 muscular ventricular septal defect semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-01-25 KidsFirst HP:0011675 Arrhythmia skos:broadMatch 1 MP:0001636 irregular heartbeat semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2023-07-28 COVID PMID:32354800, PMID:32620220, https://doi.org/10.1101/2020.10.09.20209379 HP:0011821 Abnormality of facial skeleton skos:exactMatch 1 MP:0005274 abnormal viscerocranium morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2021-05-27 KidsFirst HP:0011842 Abnormal skeletal morphology skos:broadMatch 1 MP:0002113 abnormal skeleton development semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-07-29 scoliosis HP:0011842 Abnormal skeletal morphology skos:exactMatch 1 MP:0005508 abnormal skeleton morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-07-29 scoliosis HP:0011844 Abnormal appendicular skeleton morphology skos:exactMatch 1 MP:0009250 abnormal appendicular skeleton morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-07-28 scoliosis HP:0011849 Abnormal bone ossification skos:relatedMatch 1 MP:0000060 delayed bone ossification semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-08-01 scoliosis; MP term is in the physiology branch HO term is in the morphology branch HP:0011849 Abnormal bone ossification skos:relatedMatch 1 MP:0003419 delayed endochondral bone ossification semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-08-01 scoliosis; MP term is in the physiology branch HO term is in the morphology branch HP:0011849 Abnormal bone ossification skos:relatedMatch 0.9 MP:0008271 abnormal bone ossification semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-11-15 scoliosis; while the terms have the same label and text definition, the child terms are distinct as MP term is on the physiology branch and is about the process, both use GO term in eq, HPO term is on the morphology branch and has child terms about morphological outcomes, see HPO ticket 9761, Peter wants this to stay as the outcome of the process not actually the process HP:0011877 Increased mean platelet volume skos:exactMatch 1 MP:0002599 increased mean platelet volume semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32935808, PMID:32892687 HP:0011892 Low levels of vitamin K skos:exactMatch 1 MP:0031263 decreased vitamin K level semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID, KidsFirst https://doi.org/10.1101/2020.12.21.20248613 HP:0011897 Neutrophilia skos:exactMatch 1 MP:0000219 increased neutrophil cell number semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32007143, PMID:31986264, PMID:32311826 HP:0011899 Hyperfibrinogenemia skos:exactMatch 1 MP:0012331 increased circulating fibrinogen level semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32467443 HP:0011900 Hypofibrinogenemia skos:exactMatch 1 MP:0012330 decreased circulating fibrinogen level semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32311826 HP:0011950 Bronchiolitis skos:exactMatch 1 MP:0031054 bronchiolitis semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32421539 HP:0011969 Elevated circulating luteinizing hormone level skos:exactMatch 1 MP:0001751 increased circulating luteinizing hormone level semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID https://doi.org/10.1101/2020.03.21.20037267 HP:0011970 Cerebral amyloid angiopathy skos:exactMatch 1 MP:0004254 cerebral amyloid angiopathy semapv:ManualMappingCuration orcid:0000-0003-2307-1226 2021-07-29 Alzheimer HP:0011970 Cerebral amyloid angiopathy skos:exactMatch 1 MP:0004254 cerebral amyloid angiopathy semapv:ManualMappingCuration orcid:0000-0003-2307-1226 2021-07-29 Alzheimer HP:0011994 Abnormal atrial septum morphology skos:exactMatch 1 MP:0000282 abnormal interatrial septum morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2021-05-27 KidsFirst HP:0012020 Right aortic arch skos:exactMatch 1 MP:0004158 right aortic arch semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2021-05-27 KidsFirst HP:0012084 Abnormality of skeletal muscle fiber size skos:broadMatch 1 MP:0009400 decreased skeletal muscle fiber size semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-08-01 scoliosis HP:0012104 Parietal cortical atrophy skos:relatedMatch 0.9 MP:0021011 parietal lobe atrophy semapv:ManualMappingCuration orcid:0000-0003-2307-1226 2021-07-29 Alzheimer HP:0012146 Abnormality of von Willebrand factor skos:narrowMatch 1 MP:0031165 increased circulating von Willebrand factor level semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32708334, PMID:32415579 HP:0012156 Hemophagocytosis skos:exactMatch 1 MP:0031070 hemophagocytosis semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32411313 HP:0012189 Hodgkin lymphoma skos:relatedMatch 0.8 MP:0012431 increased lymphoma incidence semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-02-02 KidsFirst; both broad and related, single annotation to this term that mentions Hodgkin's multiple ones mention non-Hodgkin's HP:0012211 Abnormal renal physiology skos:exactMatch 1 MP:0002136 abnormal kidney physiology semapv:ManualMappingCuration orcid:0000-0002-6490-7723 2021-12-20 KidsFirst HP:0012226 Ovarian teratoma skos:relatedMatch 1 MP:0009442 increased ovarian teratoma incidence semapv:ManualMappingCuration orcid:0000-0002-6490-7723 2021-12-20 KidsFirst HP:0012254 Ewing sarcoma skos:relatedMatch 0.8 MP:0002032 increased sarcoma incidence semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-02-02 KidsFirst; both broad and related, no annotations in MGI HP:0012282 Morbilliform rash skos:broadMatch 1 MP:0031103 skin rash semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32390279 HP:0012303 Abnormal aortic arch morphology skos:exactMatch 1 MP:0004113 abnormal aortic arch morphology semapv:ManualMappingCuration orcid:0000-0002-6490-7723 2021-12-20 KidsFirst; MP term refers specifically to the adult aortic arch structure and includes details on branches HP:0012312 Monocytopenia skos:exactMatch 1 MP:0000223 decreased monocyte cell number semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32161940, PMID:32492406 HP:0012332 Abnormal autonomic nervous system physiology skos:exactMatch 1 MP:0006276 abnormal autonomic nervous system physiology semapv:ManualMappingCuration orcid:0000-0003-2307-1226 2021-07-29 Alzheimer HP:0012375 Chemosis skos:exactMatch 1 MP:0031097 conjunctival chemosis semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32421258, PMID:32232433 HP:0012378 Fatigue skos:exactMatch 1 MP:0002899 fatigue semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32574165 HP:0012384 Rhinitis skos:exactMatch 1 MP:0001867 rhinitis semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32451564 HP:0012387 Bronchitis skos:exactMatch 1 MP:0031055 bronchitis semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32493030, PMID:32682491, PMID:32879413 HP:0012416 Hypercapnia skos:narrowMatch 1 MP:0002318 hypercapnia semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2023-07-28 COVID PMID:32203672 HP:0012417 Hypocapnia skos:narrowMatch 1 MP:0003032 hypocapnia semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2023-07-28 COVID PMID:32344310 HP:0012418 Hypoxemia skos:relatedMatch 1 MP:0005039 hypoxia semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32376101, PMID:32319424 HP:0012418 Hypoxemia skos:exactMatch 1 MP:0012549 hypoxemia semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID; HP term related synonym = Hypoxia PMID:32376101 HP:0012418 Hypoxemia skos:relatedMatch 1 MP:0031068 decreased blood oxygen saturation level semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32653160 HP:0012443 Abnormality of brain morphology skos:exactMatch 1 MP:0002152 abnormal brain morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2021-05-27 KidsFirst HP:0012486 Myelitis skos:exactMatch 1 MP:0030987 spinal cord inflammation semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32464367 HP:0012516 Tetralogy of Fallot with pulmonary atresia skos:narrowMatch 1 MP:0002127 abnormal cardiovascular system morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-02-02 KidsFirst HP:0012541 Cephalohematoma skos:exactMatch 1 MP:0001915 intracranial hemorrhage semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-02-02 KidsFirst HP:0012583 Unilateral renal hypoplasia skos:narrowMatch 1 MP:0003446 renal hypoplasia semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2021-09-30 KidsFirst; MP term cover unilateral and bilateral, consider splitting, there are annotations that could be moved to the new term HP:0012592 Albuminuria skos:exactMatch 1 MP:0002871 albuminuria semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32204907, PMID:32620220 HP:0012638 Abnormal nervous system physiology skos:exactMatch 1 MP:0003633 abnormal nervous system physiology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2021-05-27 KidsFirst HP:0012664 Reduced ejection fraction skos:broadMatch 1 MP:0005598 decreased ventricle muscle contractility semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID; based on parentage the HPO term is restricted to the left ventricle PMID:33187875, PMID:33075857, https://doi.org/10.1101/2020.11.10.20229294 HP:0012735 Cough skos:exactMatch 1 MP:0031088 coughing semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32574165 HP:0012741 Unilateral cryptorchidism skos:exactMatch 1 MP:0031286 unilateral cryptorchism semapv:ManualMappingCuration orcid:0000-0002-6490-7723 2021-07-26 KidsFirst HP:0012757 Abnormal neuron morphology skos:broadMatch 1 MP:0004297 abnormal proprioceptive neuron morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-07-29 scoliosis HP:0012757 Abnormal neuron morphology skos:broadMatch 1 MP:0008467 absent proprioceptive neurons semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-07-29 scoliosis HP:0012790 Abnormal intramembranous ossification skos:relatedMatch 0.9 MP:0008273 abnormal intramembranous bone ossification semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-11-15 scoliosis; HPO definition states process but placement is under morphology HP:0012795 Abnormality of the optic disc skos:exactMatch 1 MP:0008259 abnormal optic disk morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-02-02 KidsFirst HP:0012819 Myocarditis skos:exactMatch 1 MP:0001856 myocarditis semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32354800, PMID:32352535 HP:0020060 Decreased red blood cell count skos:exactMatch 1 MP:0002875 decreased erythrocyte cell number semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32566620 HP:0020062 Decreased hemoglobin concentration skos:narrowMatch 1 MP:0002874 decreased hemoglobin content semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2023-11-15 COVID, MP term refers to blood in general, HPO term is for erythrocyte hemoglobin specifically PMID:32284281, PMID:32007143 HP:0020113 Decreased proportion of CD4+CD25+ regulatory T cells skos:relatedMatch 1 MP:0004974 decreased regulatory T cell number semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32161940 HP:0025031 Abnormality of the digestive system skos:narrowMatch 1 MP:0005381 digestive/alimentary phenotype semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2021-05-27 KidsFirst; the HPO term covers both morph and physiology, closest match in MP would be the system header but this includes normals HP:0025095 Sneeze skos:exactMatch 1 MP:0031089 sneezing semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32325252 HP:0025144 Shivering skos:relatedMatch 1 MP:0000745 tremors semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID; MP term broad synonym = shivering PMID:32371463 HP:0025247 Dermoid cyst skos:narrowMatch 1 MP:0031309 skin cyst semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-01-27 KidsFirst; existing annotation J:186934 HP:0025337 Red eye skos:exactMatch 1 MP:0031347 red eye semapv:ManualMappingCuration orcid:0000-0002-6490-7723 2022-02-01 COVID PMID:32585259 HP:0025406 Asthenia skos:narrowMatch 0.9 MP:0000746 weakness semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2023-11-15 COVID; potential for the MP term to be slightly broader than the symptom and HPO term mostly related to the use of feeling in HP definition, changed to narrow as I think the HP term would fall under the MP term PMID:32574165 HP:0025407 Rectourethral fistula skos:exactMatch 0 MP:0011786 rectourethral fistula semapv:ManualMappingCuration orcid:0000-0002-6490-7723|orcid:0000-0003-4606-0597 2021-05-27 KidsFirst HP:0025420 Diffuse alveolar hemorrhage skos:broadMatch 1 MP:0010909 pulmonary alveolar hemorrhage semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32620220 HP:0025426 Abnormal bronchus morphology skos:exactMatch 0 MP:0002264 abnormal bronchus morphology semapv:ManualMappingCuration orcid:0000-0002-6490-7723|orcid:0000-0003-4606-0597 2021-05-27 KidsFirst HP:0025435 Increased circulating lactate dehydrogenase concentration skos:exactMatch 1 MP:0011971 increased circulating lactate dehydrogenase level semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32007143, PMID:32531257 HP:0025439 Pharyngitis skos:exactMatch 1 MP:0031095 pharyngitis semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32574165 HP:0025480 Lipomyelomeningocele skos:narrowMatch 1 MP:0009929 meningomyelocele semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-02-02 KidsFirst HP:0025579 Abnormal left atrium morphology skos:exactMatch 1 MP:0003923 abnormal heart left atrium morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2021-05-27 KidsFirst HP:0025580 Abnormal right atrium morphology skos:exactMatch 1 MP:0003922 abnormal heart right atrium morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2021-05-27 KidsFirst HP:0030038 Enchondroma skos:relatedMatch 1 MP:0031283 increased enchondroma incidence semapv:ManualMappingCuration orcid:0000-0002-6490-7723 2021-05-27 KidsFirst; new incidence term falls under increased skeletal tumor incidence HP:0030040 Fused lumbar vertebrae skos:exactMatch 1 MP:0004621 lumbar vertebral fusion semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-08-02 scoliosis HP:0030043 Hip subluxation skos:narrowMatch 1 MP:0030829 abnormal hip joint morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-01-25 KidsFirst; consider adding new term, no existing annotations in MGI HP:0030319 Weakness of facial musculature skos:exactMatch 1 MP:0031314 facial muscle weakness semapv:ManualMappingCuration orcid:0000-0002-6490-7723 2021-10-25 KidsFirst; new term - child of muscle weakness (MP:0000747) I do not see any existing annotations mentioning face or facial under this term HP:0030319 Weakness of facial musculature skos:exactMatch 1 MP:0031314 facial muscle weakness semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2021-12-31 COVID PMID:32622375 HP:0030356 Increased serum interferon-gamma level skos:exactMatch 1 MP:0008577 increased circulating interferon-gamma level semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID; HPO definition is ..in blood circulation PMID:32387470 HP:0030431 Osteochondroma skos:relatedMatch 1 MP:0010079 increased osteochondroma incidence semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2021-05-27 KidsFirst HP:0030434 Pilomatrixoma skos:relatedMatch 1 MP:0002013 increased pilomatricoma incidence semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-01-27 KidsFirst HP:0030708 Myeloschisis skos:narrowMatch 1 MP:0009929 meningomyelocele semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-02-02 KidsFirst HP:0030782 Abnormal serum interleukin level skos:broadMatch 1 MP:0008588 abnormal circulating interleukin level semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID; HPO definition specifies circulation not only serum PMID:32505227, PMID:31986264 HP:0030782 Abnormal serum interleukin level skos:narrowMatch 1 MP:0008591 increased circulating interleukin-1 level semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2021-12-31 COVID PMID:35060145 HP:0030782 Abnormal serum interleukin level skos:narrowMatch 1 MP:0008599 increased circulating interleukin-2 level semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2021-12-31 COVID PMID:34181987 HP:0030782 Abnormal serum interleukin level skos:narrowMatch 1 MP:0008605 increased circulating interleukin-7 level semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2021-12-31 COVID PMID:32387470 HP:0030782 Abnormal serum interleukin level skos:narrowMatch 1 MP:0008611 increased circulating interleukin-15 level semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2021-12-31 COVID PMID:32576222 HP:0030782 Abnormal serum interleukin level skos:narrowMatch 1 MP:0008614 increased circulating interleukin-17 level semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2021-12-31 COVID PMID:34181987 HP:0030782 Abnormal serum interleukin level skos:narrowMatch 1 MP:0008629 increased circulating interleukin-9 level semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2021-12-31 COVID PMID:32387470 HP:0030782 Abnormal serum interleukin level skos:narrowMatch 1 MP:0008635 increased circulating interleukin-18 level semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2021-12-31 COVID PMID:32576222 HP:0030782 Abnormal serum interleukin level skos:narrowMatch 1 MP:0008641 increased circulating interleukin-1 beta level semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2021-12-31 COVID PMID:32387470 HP:0030783 Increased serum interleukin-6 skos:exactMatch 1 MP:0008596 increased circulating interleukin-6 level semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32007143 HP:0030799 Scaphocephaly skos:narrowMatch 1 MP:0003742 narrow head semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-02-02 KidsFirst HP:0030828 Wheezing skos:exactMatch 1 MP:0031086 wheezing semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32574165 HP:0030829 Abnormal breath sound skos:exactMatch 1 MP:0001950 abnormal respiratory sounds semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID https://doi.org/10.1101/2020.04.07.20051060 HP:0030830 Crackles skos:exactMatch 1 MP:0031104 crackles semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID https://doi.org/10.1101/2020.04.07.20051060 HP:0030831 Rhonchi skos:exactMatch 1 MP:0031105 ronchi semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID https://doi.org/10.1101/2020.04.07.20051060 HP:0030853 Heterotaxy skos:exactMatch 1 MP:0004133 heterotaxia semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2021-05-27 KidsFirst HP:0030875 Abnormality of pulmonary circulation skos:exactMatch 1 MP:0002295 abnormal pulmonary circulation semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-02-02 KidsFirst HP:0030879 Interlobular septal thickening on pulmonary HRCT skos:broadMatch 1 MP:0002276 abnormal lung interstitium morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32118615 HP:0030948 Elevated gamma-glutamyltransferase level skos:narrowMatch 1 MP:0031114 increased circulating gamma-glutamyl transferase level semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32145190 HP:0030953 Conjunctival hyperemia skos:exactMatch 1 MP:0031096 conjunctival hyperemia semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32232433 HP:0030966 Abnormal pulmonary artery morphology skos:exactMatch 1 MP:0000484 abnormal pulmonary artery morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2021-05-27 KidsFirst HP:0030968 Abnormal pulmonary vein morphology skos:exactMatch 1 MP:0002726 abnormal pulmonary vein morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2021-05-27 KidsFirst HP:0031045 Acral blistering skos:broadMatch 1 MP:0001208 blistering semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32390279 HP:0031098 Decreased thyroid-stimulating hormone level skos:narrowMatch 0.8 MP:0005119 decreased circulating thyroid-stimulating hormone level semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID; HP definition implies this is the level of thyroid-stimulating hormone anywhere but placement under pituitary gland leaves some question as to if this would cover levels outside of the gland. I'm inclined to think the intent is for this to cover levels anywhere in the body PMID:32600165, PMID:32217556 HP:0031245 Productive cough skos:broadMatch 1 MP:0031088 coughing semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32574165 HP:0031246 Nonproductive cough skos:broadMatch 1 MP:0031088 coughing semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2021-12-31 COVID PMID:32574165 HP:0031249 Parageusia skos:exactMatch 1 MP:0031092 dysgeusia semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32464367, PMID:32383370, PMID:32563019, PMID:32620220 HP:0031266 Podocyte foot process effacement skos:exactMatch 1 MP:0008140 podocyte foot process effacement semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32471641 HP:0031411 Abnormal chromosome morphology skos:exactMatch 1 MP:0003702 abnormal chromosome morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2021-05-27 KidsFirst HP:0031417 Rhinorrhea skos:exactMatch 1 MP:0031102 rhinorrhea semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32574165 HP:0031703 Abnormal ear morphology skos:exactMatch 1 MP:0002102 abnormal ear morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2021-05-27 KidsFirst HP:0031805 Intraretinal hemorrhage skos:narrowMatch 1 MP:0006185 retina hemorrhage semapv:ManualMappingCuration orcid:0000-0002-6490-7723 2021-12-20 KidsFirst; MP term is just defined as bleeding into the retina HP:0031826 Abnormal reflex skos:exactMatch 1 MP:0001961 abnormal reflex semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32464367 HP:0031831 Decreased serum zinc skos:exactMatch 1 MP:0031172 decreased circulating zinc level semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2023-11-15 COVID; HP term definition specifies blood not serum, both terms use the sam EQ so calling exact https://doi.org/10.1101/2020.10.07.20208645 HP:0031851 Reduced hematocrit skos:exactMatch 1 MP:0000208 decreased hematocrit semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32566620 HP:0031891 Decreased eosinophil count skos:narrowMatch 1 MP:0005012 decreased eosinophil cell number semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2023-07-28 COVID PMID:32368728, PMID:32562554 HP:0031956 Elevated circulating aspartate aminotransferase concentration skos:exactMatch 1 MP:0005343 increased circulating aspartate transaminase level semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32007143, PMID:32145190, PMID:32311826 HP:0031964 Elevated circulating alanine aminotransferase concentration skos:exactMatch 1 MP:0002941 increased circulating alanine transaminase level semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32007143, PMID:32145190 HP:0031965 Increased RBC distribution width skos:exactMatch 1 MP:0010067 increased red blood cell distribution width semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32566620, PMID:32509258 HP:0032044 Decreased vigilance skos:exactMatch 1 MP:0020224 decreased alertness semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32464367 HP:0032092 Left ventricular outflow tract obstruction skos:narrowMatch 1 MP:0010429 abnormal heart left ventricle outflow tract morphology semapv:ManualMappingCuration orcid:0000-0002-6490-7723|orcid:0000-0003-4606-0597 2021-05-27 KidsFirst; new term, child of abnormal heart left ventricle outflow tract morphology (MP:0010429) we do have stenosis but not obstruction HP:0032177 Parenchymal consolidation skos:exactMatch 1 MP:0031113 pulmonary parenchymal consolidation semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32017661, PMID:32620220 HP:0032198 Decreased prothrombin time skos:exactMatch 1 MP:0012355 decreased prothrombin time semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32007143 HP:0032210 Decreased circulating free T3 skos:broadMatch 1 MP:0005479 decreased circulating triiodothyronine level semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32600165, PMID:32217556 HP:0032218 Reduced proportion of CD4 T cells skos:relatedMatch 1 MP:0008075 decreased CD4-positive, alpha beta T cell number semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID; For HPO decrease in proportion to total, could reflect increase in some other cell type shifting the proportions PMID:32505227, PMID:32379887, PMID:32283159 HP:0032263 Increased blood pressure skos:narrowMatch 1 MP:0002842 increased systemic arterial blood pressure semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32620220 HP:0032308 Increased circulating procalcitonin level skos:exactMatch 1 MP:0031065 increased circulating procalcitonin level semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32371463, PMID:32007143 HP:0032623 Renal intratubular casts skos:broadMatch 1 MP:0011402 renal cast semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID; MP term covers both tubules and collecting ducts, from ref and HPO site these apear to be limited to just the casts in tubules PMID:32327202, PMID:32471641 HP:0032892 Infection-skos:relatedMatch seizure skos:broadMatch 1 MP:0000947 convulsive seizures semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID; for relation to symptom - is a convulsion always considered a seizure by clinicinans? MP broader than HPO term as MP does not include the cause of the phenotype in the term definition PMID:32266761 HP:0032929 Abnormal chondrocyte morphology skos:exactMatch 1 MP:0000166 abnormal chondrocyte morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-07-28 scoliosis HP:0033006 Diffuse alveolar damage skos:exactMatch 1 MP:0031237 diffuse alveolar damage semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32364264 HP:0033031 Hyperpyrexia skos:broadMatch 1 MP:0011016 increased core body temperature semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32519768 HP:0033041 Cytokine storm skos:exactMatch 1 MP:0031066 cytokine storm semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32505227, PMID:31986264 HP:0033050 Pharyngalgia skos:relatedMatch 1 MP:0031095 pharyngitis semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID; MP term related synonym = sore throat PMID:32574165, PMID:32586739, PMID:32133578 HP:0033106 Elevated circulating D-dimer concentration skos:exactMatch 1 MP:0031083 increased circulating D-dimer level semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32007143, PMID:32311826, PMID:32620220 HP:0033178 Increased circulating interleukin 8 skos:exactMatch 1 MP:0011714 increased circulating interleukin-8 level semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32387470, PMID:31986264 HP:0033199 Increased circulating interleukin 10 skos:exactMatch 1 MP:0008593 increased circulating interleukin-10 level semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32387470, PMID:31986264 HP:0033328 Type II pneumocyte hyperplasia skos:narrowMatch 0.8 MP:0031238 reactive type II pneumocyte hyperplasia semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID; COVID; reactive - incorporates cause of hyperplasia as following lung injury, the definition for the HP term specifies enlargement, which I find ambiguos in meaning; submitted a ticket to get this clarified PMID:32427582, PMID:32817204 HP:0033332 Elevated circulating amyloid A skos:exactMatch 1 MP:0031234 increased circulating serum amyloid protein level semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID; serum is part of the name of the protein PMID:32277967, PMID:32475810, https://www.researchsquare.com/article/rs-19724/v1 HP:0033363 Hyaline membranes skos:exactMatch 0.9 MP:0011018 pulmonary hyaline membrane formation semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32526193 HP:0033376 Alveolar septal thickening skos:broadMatch 1 MP:0001179 thick pulmonary interalveolar septum semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID; thickening implies a change from normal to thick while the MP term covers cases where the septum was always thicker so we mapped the MP to HPO as skos:broadMatch PMID: 32526193 HP:0033438 Elevated circulating myoglobin concentration skos:exactMatch 1 MP:0031108 increased circulating myoglobin level semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32007143, PMID:32653160 HP:0033655 Pulmonary cavity skos:exactMatch 1 MP:0031119 pulmonary cavitation semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32636231, PMID:32527136, https://doi.org/10.1101/2020.08.15.20175869, https://doi.org/10.1186/s43055-020-00223-0 HP:0033977 Talar aplasia skos:narrowMatch 1 MP:0005110 absent talus semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-07-29 scoliosis; MP does not specify congentital HP:0033993 Viral encephalitis skos:broadMatch 1 MP:0006082 CNS inflammation semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32464367 HP:0040064 Abnormality of limbs skos:broadMatch 1 MP:0000546 abnormal limb morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2021-05-27 KidsFirst; MP has morphology term and a general limb/digit/tail phenotype term but not a general limb abnormality term (that would cover morphology and physiology) HP:0040071 Abnormal morphology of ulna skos:broadMatch 1 MP:0004359 short ulna semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-08-02 scoliosis; HPO ticket 7615 HP:0040106 Morphological abnormality of the lateral semicircular canal skos:exactMatch 1 MP:0000037 abnormal lateral semicircular canal morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2021-05-27 KidsFirst HP:0040186 Maculopapular exanthema skos:broadMatch 1 MP:0031103 skin rash semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32390279 HP:0040218 Reduced natural killer cell count skos:exactMatch 1 MP:0008045 decreased NK cell number semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32505227 HP:0040223 Pulmonary hemorrhage skos:exactMatch 1 MP:0001182 lung hemorrhage semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:34433686, PMID:34479651, PMID:33481385 HP:0040246 Reduced antithrombin antigen skos:exactMatch 1 MP:0012325 decreased circulating antithrombin level semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32311826 HP:0040303 Decreased serum iron skos:narrowMatch 1 MP:0004151 decreased circulating iron level semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2023-11-15 COVID; in this case serum iron would be a child of blood iron, HPO definition specifies serum PMID:32509258 HP:0041051 Ageusia skos:exactMatch 1 MP:0031090 ageusia semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32464367, PMID:32383370 HP:0041079 Decreased body fat percentage skos:relatedMatch 0.9 MP:0014143 decreased body fat mass semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-07-29 scoliosis HP:0045005 Neural tube defect skos:narrowMatch 1 MP:0003720 abnormal neural tube closure semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-01-26 KidsFirst; note neural tube defects is a synonym of abnormal neural tube morphology in the MP but the HPO term specfies a defect in closure; the MP term specifies any anomaly in closure and could thus cover premature closure while the HPO term specifies fails to close. In practice the child terms of the MP term all relate to failure or delay of closure HP:0045014 Hypolipidemia skos:exactMatch 1 MP:0031206 hypolipidemia semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32430154, https://doi.org/10.1101/2020.10.06.20207092 HP:0100240 Synostosis of joints skos:exactMatch 1 MP:0003189 fused joints semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-08-02 scoliosis HP:0100256 Senile plaques skos:broadMatch 0.9 MP:0003329 amyloid beta deposits semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0003-2307-1226 2023-11-15 Alzheimer HP:0100309 Subdural hemorrhage skos:exactMatch 1 MP:0031117 subdural hemorrhage semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32738585 HP:0100315 Lewy bodies skos:exactMatch 1 MP:0014065 Lewy bodies semapv:ManualMappingCuration orcid:0000-0003-2307-1226 2021-07-29 Alzheimer HP:0100333 Unilateral cleft lip skos:narrowMatch 1 MP:0005170 cleft upper lip semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-01-26 KidsFirst HP:0100336 Bilateral cleft lip skos:narrowMatch 1 MP:0005170 cleft upper lip semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-02-02 KidsFirst HP:0100520 Oliguria skos:exactMatch 1 MP:0003620 oliguria semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32533197 HP:0100540 Palpebral edema skos:exactMatch 1 MP:0006167 eyelid edema semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32310553 HP:0100542 Abnormal localization of kidney skos:broadMatch 1 MP:0003600 ectopic kidney semapv:ManualMappingCuration orcid:0000-0002-6490-7723 2021-09-20 KidsFirst; Ectopic kidney HP:0000086 is a child term of Abnormal localization of kidney HP:0100542 HP:0100543 Cognitive impairment skos:relatedMatch 0.7 MP:0002571 senility semapv:ManualMappingCuration orcid:0000-0003-2307-1226 2021-07-29 Alzheimer HP:0100543 Cognitive impairment skos:broadMatch 1 MP:0014114 abnormal cognition semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:33111132 HP:0100545 Arterial stenosis skos:exactMatch 1 MP:0006135 artery stenosis semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2021-05-27 KidsFirst HP:0100588 Paraphimosis skos:exactMatch 1 MP:0010033 paraphimosis semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-08-02 scoliosis HP:0100598 Pulmonary edema skos:exactMatch 1 MP:0003828 pulmonary edema semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32526193 HP:0100598 Pulmonary edema skos:narrowMatch 1 MP:0010894 pulmonary alveolar edema semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32526193 HP:0100614 Myositis skos:exactMatch 1 MP:0004510 myositis semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32535934, PMID:32419753, PMID:32542129 HP:0100633 Esophagitis skos:exactMatch 1 MP:0003278 esophageal inflammation semapv:ManualMappingCuration orcid:0000-0002-6490-7723 2021-09-20 KidsFirst HP:0100659 Abnormality of the cerebral vasculature skos:narrowMatch 1 MP:0004950 abnormal brain vasculature morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2021-05-27 KidsFirst; MP does not have a term for cerebral vasculature, whole brain term would be the parent if we added that term, we do have terms for cerebral arteries, add new term for abnormal cerebral vascular morphology, there are a number of annotations to the general brain term that could move HP:0100671 Abnormal trabecular bone morphology skos:exactMatch 1 MP:0000130 abnormal trabecular bone morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-07-29 scoliosis; MP and HP eqs use different Uberon terms HP:0100671 Abnormal trabecular bone morphology skos:broadMatch 1 MP:0009346 decreased trabecular bone thickness semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-08-01 scoliosis HP:0100671 Abnormal trabecular bone morphology skos:broadMatch 1 MP:0010879 decreased trabecular bone volume semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-08-01 scoliosis HP:0100711 Abnormal thoracic spine morphology skos:narrowMatch 1 MP:0004703 abnormal vertebral column morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-01-27 KidsFirst; many annotations specify thoracic spinal column ticket https://github.com/mgijax/mammalian-phenotype-ontology/issues/3498 HP:0100712 Abnormal lumbar spine morphology skos:broadMatch 0.9 MP:0003049 abnormal lumbar vertebrae morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-07-28 scoliosis; HP definition lumbar vertebral column, which I assume would include non-vertebral elements, also this is a sibling of the vertebral term HP:0100724 Hypercoagulability skos:exactMatch 1 MP:0031214 hypercoagulability semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32354800, PMID:32748336 HP:0100750 Atelectasis skos:exactMatch 1 MP:0001177 atelectasis semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:34825929 HP:0100758 Gangrene skos:exactMatch 1 MP:0031126 gangrene semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32359711 HP:0100758 Gangrene skos:narrowMatch 1 MP:0031127 dry gangrene semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32447934, PMID:32495913, PMID:32731141 HP:0100777 Exostoses skos:exactMatch 1 MP:0009877 exostosis semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-08-01 scoliosis; KidsFirst HP:0100802 Malposition of the stomach skos:narrowMatch 0.9 MP:0010807 abnormal stomach position or orientation semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-02-02 KidsFirst; MP term covers position and rotation but HP term is only position, some uncertainty if the intent was for malrotation to have a separate term HP:0100806 Sepsis skos:exactMatch 1 MP:0005044 sepsis semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32439197 HP:0200012 Short corpus callosum skos:narrowMatch 1 MP:0000781 decreased corpus callosum size semapv:ManualMappingCuration orcid:0000-0002-6490-7723 2021-12-20 KidsFirst; HPO provides no textutal definition HP:0200023 Priapism skos:exactMatch 1 MP:0003415 priapism semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32732087 HP:0200029 Vasculitis in the skin skos:broadMatch 1 MP:0001863 blood vessel inflammation semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32378747, PMID:32453865, PMID:32441876 HP:0200037 Skin vesicle skos:broadMatch 1 MP:0001208 blistering semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32348545 HP:0200151 Cutaneous mastocytosis skos:narrowMatch 1 MP:0000324 increased mast cell number semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-02-07 KidsFirst; https://github.com/mgijax/mammalian-phenotype-ontology/issues/3510 HP:0410030 Cleft lip skos:broadMatch 1 MP:0005170 cleft upper lip semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2021-05-27 KidsFirst; HP term applies to either upper or lower lip HP:0410042 Abnormal liver morphology skos:exactMatch 1 MP:0000598 abnormal liver morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2021-05-27 KidsFirst HP:0410170 Hippocampal atrophy skos:exactMatch 1 MP:0030003 hippocampus atrophy semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0003-2307-1226 2023-11-15 Alzheimer HP:0410173 Increased troponin I level in blood skos:exactMatch 1 MP:0031079 increased circulating troponin I level semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32255359, PMID:32311826, PMID:32620220 HP:0410174 Increased troponin T level in blood skos:exactMatch 1 MP:0031078 increased circulating troponin T level semapv:ManualMappingCuration orcid:0000-0003-4606-0597|orcid:0000-0002-6490-7723 2021-12-31 COVID PMID:32255359, PMID:32311826 HP:0410264 Subglottic hemangioma skos:relatedMatch 0.8 MP:0002947 increased hemangioma incidence semapv:ManualMappingCuration orcid:0000-0002-6490-7723|orcid:0000-0003-4606-0597 2021-05-27 KidsFirst; MP term covers all types of hemangiomas, not sure if related or broad is the better match term HP:0410271 Laryngeal hemangioma skos:relatedMatch 1 MP:0002947 increased hemangioma incidence semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-02-07 KidsFirst; both broad and related, no annotations in MGI HP:0410275 Lumbosacral hemangioma skos:relatedMatch 1 MP:0002947 increased hemangioma incidence semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-02-07 KidsFirst; both broad and related, no annotations in MGI HP:0000174 Abnormal palate morphology skos:broadMatch 1 MP:0009886 failure of palatal shelf elevation semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-12-14 HP:0000174 Abnormal palate morphology skos:broadMatch 1 MP:0009653 abnormal palate development semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-12-14 HP:0000157 Abnormality of the tongue skos:broadMatch 1 MP:0031443 abnormal tongue position semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-12-14 HP:0008872 Feeding difficulties in infancy skos:broadMatch 1 MP:0009546 absent gastric milk in neonates semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-12-14 HP:0001522 Death in infancy skos:relatedMatch 0.9 MP:0011110 preweaning lethality, incomplete penetrance semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-12-14 HP:0003819 Death in childhood skos:relatedMatch 0.9 MP:0011110 preweaning lethality, incomplete penetrance semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-12-14 HP:0000271 Abnormality of the face skos:broadMatch 1 MP:0000445 short snout semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-12-14 HP:0000929 Abnormal skull morphology skos:narrowMatch 1 MP:0002116 abnormal craniofacial bone morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-12-14 HP:0430000 Abnormal frontal bone morphology skos:exactMatch 1 MP:0000107 abnormal frontal bone morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-12-14 HP:0000419 Abnormality of the nasal septum skos:exactMatch 0.9 MP:0002239 abnormal nasal septum morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-12-14 The MP term includes the vomeronasal organ that is not found in the HPO, UBERON does not have the vomeronasal organ as part of the septum, possibly the MP organization should be changed? HP:0010291 Prominent palatine ridges skos:narrowMatch 1 MP:0009652 abnormal palatal rugae morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-12-14 HP:0000174 Abnormal palate morphology skos:broadMatch 1 MP:0031460 abnormal palatal shelf morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-12-14 HP:0010758 Abnormality of the premaxilla skos:exactMatch 0.9 MP:0002820 abnormal premaxilla morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-12-15 calling this exact based on placement in the morphology branch, despite lack of morphology reference in label or definition HP:0410000 Abnormal vomer morphology skos:exactMatch 1 MP:0000098 abnormal vomer bone morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-12-15 HP:0000589 Coloboma skos:exactMatch 1 MP:0005262 coloboma semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-12-15 HP:0430003 Abnormal palatine bone morphology skos:broadMatch 1 MP:0009895 decreased palatine bone horizontal plate size semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-12-15 HP:0000174 Abnormal palate morphology skos:broadMatch 1 MP:0021166 delayed palatal shelf elevation semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-12-15 HP:0000252 Microcephaly skos:narrowMatch 0.9 MP:0000433 microcephaly semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-11-15 HPO term has specifics for when this would be called in humans that I interpret as more extreme than how the MP term would be applied HP:0003811 Neonatal lethal skos:exactMatch 1 MP:0011087 neonatal lethality, complete penetrance semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-12-15 HP:0000174 Abnormal palate morphology skos:broadMatch 1 MP:0009888 palatal shelves fail to meet at midline semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-12-15 HP:0000174 Abnormal palate morphology skos:broadMatch 1 MP:0009892 palate bone hypoplasia semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-12-15 HP:0003811 Neonatal lethal skos:narrowMatch 1 MP:0011090 perinatal lethality, incomplete penetrance semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-12-15 HP:0011830 Abnormal oral mucosa morphology skos:broadMatch 1 MP:0030183 persistent oronasal membrane semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-12-15 HP:0000347 Micrognathia skos:relatedMatch 1 MP:0000088 short mandible semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-12-15 HP:0000326 Abnormality of the maxilla skos:broadMatch 1 MP:0000097 short maxilla semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-12-15 HP:0010758 Abnormality of the premaxilla skos:broadMatch 1 MP:0000091 short premaxilla semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-12-15 HP:0000347 Micrognathia skos:relatedMatch MP:0004592 small mandible semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-12-15 HP:0006477 Abnormality of the alveolar ridges skos:exactMatch 0.9 MP:0004189 abnormal alveolar process morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2022-12-15 HP:0012303 Abnormal aortic arch morphology skos:broadMatch 1 MP:0010464 abnormal aortic arch and aortic arch branch attachment semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-01-09 HP:0000234 Abnormality of the head skos:broadMatch 1 MP:0003935 abnormal craniofacial development semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-01-09 HP:0100737 Abnormal hard palate morphology skos:exactMatch 0.9 MP:0003756 abnormal hard palate morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-01-09 HPO ticket to remove cleft palate as a child of this term, some uncertainty based on lack of text definition HP:0011063 Abnormal incisor morphology skos:exactMatch 1 MP:0005358 abnormal incisor morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-01-09 HP:0030791 Abnormal jaw morphology skos:narrowMatch 1 MP:0000454 abnormal jaw morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-01-09 MP includes more than just the mandible and maxilla, including dentition as part of the jaw, HPO restricts the definition to mandible and maxilla, dentition is in a different branch entirely HP:0000277 Abnormal mandible morphology skos:exactMatch 1 MP:0000458 abnormal mandible morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-01-09 HP:0000326 Abnormality of the maxilla skos:broadMatch 1 MP:0004538 abnormal maxillary shelf morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-01-09 HP:0000234 Abnormality of the head skos:broadMatch 1 MP:0009903 abnormal medial nasal prominence morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-01-09 HP:0010939 Abnormal nasal bone morphology skos:exactMatch 1 MP:0000102 abnormal nasal bone morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-01-09 HP:0005105 Abnormal nasal morphology skos:broadMatch 1 MP:0004726 abnormal nasal capsule morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-01-09 HP:0100737 Abnormal hard palate morphology skos:broadMatch 1 MP:0009887 abnormal palatal shelf fusion at midline semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-01-09 HP:0430003 Abnormal palatine bone morphology skos:exactMatch 0.9 MP:0005249 abnormal palatine bone morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-01-09 HPO placement and label suggest this term should be limited to morphology but definition just states 'abnormality' which could be broader HP:0000174 Abnormal palate morphology skos:broadMatch 1 MP:0009654 abnormal primary palate development semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-01-09 HP:0100737 Abnormal hard palate morphology skos:broadMatch 1 MP:0009655 abnormal secondary palate development semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-01-09 HP:0004303 Abnormal muscle fiber morphology skos:exactMatch 1 MP:0003084 abnormal skeletal muscle fiber morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-01-30 HP:0100736 Abnormal soft palate morphology skos:exactMatch 1 MP:0003154 abnormal soft palate morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-01-30 HP:0430014 Abnormality of musculature of soft palate skos:exactMatch 1 MP:0030224 abnormal soft palate muscle morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-01-30 HP:0000174 Abnormal palate morphology skos:broadMatch 1 MP:0009882 absent palatal shelf semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-01-30 HP:0430003 Abnormal palatine bone morphology skos:broadMatch 1 MP:0000431 absent palatine bone horizontal plate semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-01-30 HP:0000324 Facial asymmetry skos:broadMatch 1 MP:0008862 asymmetric snout semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-01-30 HP:0001156 Brachydactyly skos:exactMatch 1 MP:0002544 brachydactyly semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-01-30 HP:0003687 Centrally nucleated skeletal muscle fibers skos:exactMatch 1 MP:0009404 centrally nucleated skeletal muscle fibers semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-01-30 HP:0000185 Cleft soft palate skos:exactMatch 0.9 MP:0013546 cleft soft palate semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-01-30 HP term specifies developmental origin while the MP does not, but I don't think you would ever seen this not of developmental origin HP:0001762 Talipes equinovarus skos:exactMatch 0.9 MP:0000576 clubfoot semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-01-30 I think these are intended to be the same, but the HP term specifies an effect on the leg as well as the foot that is not in the MP definition HP:0000175 Cleft palate skos:broadMatch 1 MP:0021213 complete cleft palate semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-01-30 HP:0010295 Aplasia/Hypoplasia of the tongue skos:closeMatch 0.9 MP:0009907 decreased tongue size semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-01-30 HP term covers specific type of decreased size but also covers aplasia, MP term covers any type of decrease in size but not absence HP:0000929 Abnormal skull morphology skos:broadMatch 1 MP:0000440 domed cranium semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-01-30 HP:0002006 Facial cleft skos:exactMatch 1 MP:0008797 facial cleft semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-01-30 HP:0001712 Left ventricular hypertrophy skos:exactMatch 1 MP:0002625 heart left ventricle hypertrophy semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-01-30 HP:0001667 Right ventricular hypertrophy skos:exactMatch 1 MP:0000276 heart right ventricle hypertrophy semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-01-30 HP:0000326 Abnormality of the maxilla skos:broadMatch 1 MP:0009898 maxillary shelf hypoplasia semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-01-30 HP:0000347 Micrognathia skos:narrowMatch 1 MP:0002639 micrognathia semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-01-30 MP term applies to both upper and lower jaw, HP is only mandible HP:0000160 Narrow mouth skos:narrowMatch 1 MP:0009880 microstomia semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-01-30 MP term applies to any decrease in mouth size, while the HP applies to narrow HP:0003811 Neonatal death skos:exactMatch 0.9 MP:0002058 neonatal lethality semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-01-30 some uncertainty since the MP term applies to populations primarily and it is unclear if the HP term is intended to be for individuals, populations, or both HP:0003811 Neonatal death skos:broadMatch 1 MP:0011088 neonatal lethality incomplete penetrance semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-01-30 HP:0430003 Abnormal palatine bone morphology skos:broadMatch 1 MP:0009896 palatine bone horizontal plate hypoplasia semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-01-30 HP:0010442 Polydactyly skos:exactMatch 1 MP:0000562 polydactyly semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-01-30 HP:0011849 Abnormal bone ossification skos:broadMatch 1 MP:0003416 premature bone ossification semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-01-30 HP:0010650 Hypoplasia of the premaxilla skos:exactMatch 0.9 MP:0004871 premaxilla hypoplasia semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-01-30 HP definition just specifies small not decreased cell number so it is possible that the MP term is narrower HP:0430000 Abnormal frontal bone morphology skos:broadMatch 1 MP:0004380 short frontal bone semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-01-30 HP:0011063 Abnormal incisor morphology skos:broadMatch 1 MP:0004830 short incisors semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-01-30 HP:0011063 Abnormal incisor morphology skos:broadMatch 1 MP:0030089 short lower incisors semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-01-30 HP:0010295 Aplasia/Hypoplasia of the tongue skos:closeMatch 0.9 MP:0020301 short tongue semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-01-30 HP:0011063 Abnormal incisor morphology skos:broadMatch 1 MP:0030090 short upper incisors semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-01-30 HP:0000248 Brachycephaly skos:exactMatch 1 MP:0000435 shortened head semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-01-30 HP:0430000 Abnormal frontal bone morphology skos:broadMatch 1 MP:0004377 small frontal bone semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-01-30 HP:3000073 Abnormality of levator veli palatini muscle skos:broadMatch 1 MP:0030295 small levator veli palatini muscle semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-01-30 HP:0000327 Hypoplasia of the maxilla skos:narrowMatch 1 MP:0004540 small maxilla semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-01-30 HP:0010650 Hypoplasia of the premaxilla skos:narrowMatch 1 MP:0004870 small premaxilla semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-01-30 HP:0430016 Abnormality of tensor veli palatini muscle skos:broadMatch 1 MP:0030292 small tensor veli palatini muscle semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-01-30 HP:0410000 Abnormal vomer morphology skos:broadMatch 1 MP:0030266 small vomer bone semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-01-30 HP:0010775 Vascular ring skos:exactMatch 1 MP:0010466 vascular ring semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-01-30 HP:0005556 Abnormality of the metopic suture skos:broadMatch 1 MP:0030431 wide metopic suture semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-01-30 HP:0009911 Abnormal temporal bone morphology skos:narrowMatch 1 MP:0000074 abnormal neurocranium morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-18 CDL| MP term has calvaria as a synonym but the MP and HP terms have different children and use different Uberon terms in the eqs so I believe the MP term is broader than the HP term| Make calvaria a narrow synonym for the MP term HP:0011821 Abnormal facial skeleton morphology skos:broadMatch 1 MP:0000104 abnormal sphenoid bone morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-18 CDL HP:0000772 Abnormal rib morphology skos:exactMatch 1 MP:0000150 abnormal rib morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-18 CDL | HPO term definition is an anomaly of the rib which could be broader than the M term but it is placed on the morphology ranch so I called these exact HP:0000234 Abnormality of the head skos:broadMatch 1 MP:0000432 abnormal head morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-18 CDL | HPO term is defined as abnormality of the head and could include both morphology and physiology HP:0010958 Bilateral renal agenesis skos:exactMatch 1 MP:0000520 absent kidney semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-18 CDL HP:0009826 Limb undergrowth skos:narrowMatch 0.9 MP:0000547 short limbs semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-11-15 CDL | The MP term doesn't specify growth so there is a potential for differences, calling this narrow for that reason HP:0012443 Abnormality of brain morphology skos:broadMatch 1 MP:0000774 decreased brain size semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-18 CDL HP:0001317 Abnormal cerebellum morphology skos:exactMatch 1 MP:0000849 abnormal cerebellum morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-18 CDL HP:0025028 Abnormality of enteric nervous system morphology skos:exactMatch 1 MP:0001044 abnormal enteric nervous system morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-18 CDL HP:5200069 Spinning skos:exactMatch 0.8 MP:0001411 spinning semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-11-15 CDL| Is rolling of the body (MP def) the same as 'spinning' (HP def just calls this spinning) HP:5200069 Spinning skos:relatedMatch 0.9 MP:0001394 circling semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-18 CDL HP:0000752 Hyperactivity skos:exactMatch 1 MP:0001399 hyperactivity semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-18 CDL HP:0031826 Abnormal reflex skos:broadMatch 1 MP:0001513 limb grasping semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-18 CDL HP:0100767 Abnormal placenta morphology skos:broadMatch 1 MP:0001716 abnormal placenta labyrinth morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-18 CDL HP:0001507 Growth abnormality skos:broadMatch 1 MP:0001731 abnormal postnatal growth semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-18 CDL HP:0008897 Postnatal growth retardation skos:exactMatch 1 MP:0001732 postnatal growth retardation semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-18 CDL HP:0040063 Decreased adipose tissue skos:broadMatch 1 MP:0001780 decreased brown adipose tissue amount semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-18 CDL HP:0040063 Decreased adipose tissue skos:broadMatch 1 MP:0001783 decreased white adipose tissue amount semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-18 CDL HP:0012647 Abnormal inflammatory response skos:exactMatch 1 MP:0001845 abnormal inflammatory response semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-18 CDL HP:0100533 Inflammatory abnormality of the eye skos:exactMatch 1 MP:0001851 eye inflammation semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-18 CDL HP:0001522 Death in infancy skos:relatedMatch 1 MP:0002082 postnatal lethality semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-18 CDL| went with related as the MP term applies to a population while the HP term is for an individual HP:0012372 Abnormal eye morphology skos:exactMatch 1 MP:0002092 abnormal eye morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-18 CDL| while the HP definition does not mention the optic nerve that child terms include the optic nerve HP:0001274 Agenesis of corpus callosum skos:narrowMatch 0.9 MP:0002196 absent corpus callosum semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-18 CDL| MP absent does not specify failed to develop while the HP does HP:0012790 Abnormal intramembranous ossification skos:broadMatch 1 MP:0003420 delayed intramembranous bone ossification semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-18 CDL HP:0000270 Delayed cranial suture closure skos:narrowMatch 1 MP:0003420 delayed intramembranous bone ossification semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-18 CDL | suture closure is a child of the MP term and in the HPO this term has annotations so I thing the narrow mapping will be helpful HP:0004762 Hypoplasia of right ventricle skos:narrowMatch 1 MP:0003649 decreased heart right ventricle size semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-18 CDL HP:0031411 Abnormal chromosome morphology skos:broadMatch 0.9 MP:0004023 abnormal chromosome number semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-27 CDL|in the MP this is a sibling of chromosome morphology but most of the rest of the MP has number as a child of morphology ticket 3799 HP:0005156 Hypoplastic left atrium skos:narrowMatch 1 MP:0004055 atrium hypoplasia semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-27 CDL HP:0031294 Hypoplastic right atrium skos:narrowMatch 1 MP:0004055 atrium hypoplasia semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-27 CDL HP:0001637 Abnormal myocardium morphology skos:broadMatch 1 MP:0004056 abnormal myocardium compact layer morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-27 CDL HP:0001518 Small for gestational age skos:broadMatch 1 MP:0004200 decreased fetal size semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-27 CDL HP:0000095 Abnormal renal glomerulus morphology skos:broadMatch 1 MP:0004505 decreased renal glomerulus number semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-27 CDL HP:0003319 Abnormality of the cervical spine skos:broadMatch 1 MP:0004607 abnormal cervical atlas morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-27 CDL HP:0003319 Abnormality of the cervical spine skos:broadMatch 1 MP:0004615 cervical vertebral transformation semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-27 CDL HP:0003319 Abnormality of the cervical spine skos:broadMatch 1 MP:0004620 cervical vertebral fusion semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-27 CDL HP:0006958 Abnormal auditory evoked potentials skos:broadMatch 1 MP:0004738 abnormal auditory brainstem response semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-27 CDL HP:0006267 Large placenta skos:broadMatch 1 MP:0004920 increased placenta weight semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-27 CDL HP:0002011 Morphological central nervous system abnormality skos:broadMatch 1 MP:0004998 decreased CNS synapse formation semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-27 CDL HP:0011017 Abnormal cellular physiology skos:broadMatch 1 MP:0005076 abnormal cell differentiation semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-27 CDL HP:0001507 Growth abnormality skos:narrowMatch 1 MP:0005378 growth/size/body region phenotype semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-27 CDL HP:0000078 Abnormality of the genital system skos:narrowMatch 1 MP:0005389 reproductive system phenotype semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-31 CDL| MP term includes annotations of 'normal' phenotypes HP:0001671 Abnormal cardiac septum morphology skos:exactMatch 0.9 MP:0006113 abnormal heart septum morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-31 CDL| both terms use cardiac septum in the eq and include both intra and inter cardiac septums, some uncertainty as the MP has a child term for aorticopulmonary septum and this is a child of cardiac septum in UBERON but neither text definition mentions outflow tract septums HP:0000271 Abnormality of the face skos:broadMatch 1 MP:0006411 upturned snout semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-31 CDL HP:0003254 Abnormality of DNA repair skos:exactMatch 1 MP:0008058 abnormal DNA repair semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-31 CDL HP:0100767 Abnormal placenta morphology skos:broadMatch 1 MP:0008957 abnormal placenta junctional zone morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-31 CDL HP:0100767 Abnormal placenta morphology skos:broadMatch 1 MP:0008959 abnormal spongiotrophoblast cell morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-31 CDL HP:0001518 Small for gestational age skos:broadMatch 1 MP:0009429 decreased embryo weight semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-31 CDL HP:0001518 Small for gestational age skos:broadMatch 1 MP:0009431 decreased fetal weight semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-31 CDL HP:0001518 Small for gestational age skos:broadMatch 1 MP:0009674 decreased birth weight semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-31 CDL HP:0001518 Small for gestational age skos:broadMatch 1 MP:0009703 decreased birth body size semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-31 CDL HP:0500261 Triggered by anesthetics skos:relatedMatch 1 MP:0009777 abnormal behavioral response to anesthetic semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-31 CDL HP:0001194 Abnormalities of placenta or umbilical cord skos:broadMatch 1 MP:0010038 abnormal placenta physiology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-31 CDL HP:0006695 Atrioventricular canal defect skos:exactMatch 1 MP:0010412 atrioventricular septal defect semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-31 CDL HP:0011682 Perimembranous ventricular septal defect skos:exactMatch 1 MP:0010418 perimembraneous ventricular septal defect semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-31 CDL HP:0031316 Abnormal ventricular myocardium morphology skos:exactMatch 1 MP:0010499 abnormal ventricle myocardium morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-31 CDL HP:0001522 Death in infancy skos:relatedMatch 1 MP:0011086 postnatal lethality, incomplete penetrance semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-31 CDL HP:0006958 Abnormal auditory evoked potentials skos:broadMatch 1 MP:0011966 abnormal auditory brainstem response waveform shape semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-31 CDL HP:0011800 Midface retrusion skos:exactMatch 0.9 MP:0009855 midface retrusion semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-11-15 HP:0011800 Midface retrusion skos:relatedMatch 0.8 MP:0012085 midface hypoplasia semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-11-15 CDL|EQs are the same but text definitions are very different, added to agenda for discussion MP ticket 3802 HP:0011849 Abnormal bone ossification skos:relatedMatch 0.8 MP:0020040 decreased bone ossification semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-31 CDL| MP term is under physiology HP is under morphology HP:0012757 Abnormal neuron morphology skos:broadMatch 1 MP:0020337 abnormal pyramidal neuron dendrite morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-31 CDL HP:0500032 Abnormal neuron branching skos:broadMatch 1 MP:0020508 decreased dendritic spine density semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-31 CDL HP:0500032 Abnormal neuron branching skos:broadMatch 1 MP:0020510 increased dendritic spine length semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-31 CDL HP:0012757 Abnormal neuron morphology skos:broadMatch 1 MP:0020512 abnormal dendritic mushroom spine morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-31 CDL HP:0012757 Abnormal neuron morphology skos:broadMatch 1 MP:0020514 abnormal dendritic thin spine morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-31 CDL HP:0012757 Abnormal neuron morphology skos:broadMatch 1 MP:0020551 abnormal postsynaptic density morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-31 CDL HP:0430005 Abnormal ethmoid bone morphology skos:broadMatch 1 MP:0030303 small ethmoid bone semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-31 CDL HP:0000003 Multicystic kidney dysplasia skos:narrowMatch 1 MP:0008528 polycystic kidney semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-05 CDL (Orpha)| HPO has both polycystic and multicystic kidney displasia, the multicystic term specifies cysts of different sizes, absence of a normal pelvicaliceal system, and a non-functional kidney, the HPO polycystic term specifies cysts in both kidneys, the MP term just specifies multiple cysts present. Thus the MP term is broader than both the HPO terms HP:0000050 Hypoplastic male external genitalia skos:closeMatch 0.9 MP:0009203 external male genitalia hypoplasia semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-05 CDL1| called this close as the MP has testis under internal male genetalia and HP has small testis as a child of external hypoplasia; HP also uses small as a synonym for hypoplasia while the MP has small as the parent of hypoplastic HP:0000059 Hypoplastic labia majora skos:narrowMatch 1 MP:0001139 abnormal vagina morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-06 CdL, CDL1 HP:0000072 Hydroureter skos:exactMatch 1 MP:0000536 hydroureter semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-06 CdL3 HP:0000076 Vesicoureteral reflux skos:exactMatch 1 MP:0001948 vesicoureteral reflux semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-06 CdL, CDL1 HP:0000130 Abnormality of the uterus skos:exactMatch 0.9 MP:0001120 abnormal uterus morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-06 CDL (Orpha)| HPO definition and label do not indicate this is only morphology but it is located on the morphology branch so I called this exact HP:0000135 Hypogonadism skos:narrowMatch 1 MP:0005647 abnormal sex gland physiology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-06 CdL5 | note there is an MP term 'small gonad' that has the synonym hypogonadism but the HPO term refers to reduced function of the gonad(s) NOT reduced size HP:0000176 Submucous cleft hard palate skos:exactMatch 1 MP:0013548 submucous cleft hard palate semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-06 CdL4 HP:0000204 Cleft upper lip skos:exactMatch 1 MP:0005170 cleft upper lip semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-06 CDL1 HP:0000220 Velopharyngeal insufficiency skos:narrowMatch 1 MP:0003154 abnormal soft palate morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-06 CdL4 HP:0000233 Thin vermilion border skos:narrowMatch 0.9 MP:0003784 thin lip vermilion border semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-11-16 CDL (Orpha), CdL3, 4, 5| HPO term specifies more than 2 SD below the mean the MP just specifies reduced thickness so there may be some slight distinction HP:0000248 Brachycephaly skos:exactMatch 1 MP:0000435 shortened head semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-06 CdL, CDL1, 2, 3, 4, 5 | note the HPO terms has a synonym 'Broad head shape' and the MP has a distinct term for 'broad head' that is not the same as the HPO term Brachycephaly HP:0000278 Retrognathia skos:exactMatch 1 MP:0030273 mandibular retrognathia semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-06 CdL5| MP also has a term for 'retrognathia' but this may apply to either the mandible or maxilla whilt the HPO term is defined as applying only to the mandible HP:0000294 Low anterior hairline skos:narrowMatch 1 MP:0030031 abnormal forehead morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-06 CDL (Orpha), CdL2, 3, 5 HP:0000319 Smooth philtrum skos:narrowMatch 1 MP:0012256 abnormal philtrum morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-06 CdL2, 3, 4 HP:0000343 Long philtrum skos:narrowMatch 1 MP:0012256 abnormal philtrum morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-06 CdL, CDL1, 3, 4, 5 HP:0000368 Low-set, posteriorly rotated ears skos:narrowMatch 1 MP:0000024 lowered ear position semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-06 CDL (Orpha) HP:0000368 Low-set, posteriorly rotated ears skos:narrowMatch 1 MP:0003715 posteriorly rotated ears semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-06 CDL (Orpha) HP:0000381 Stapes ankylosis skos:narrowMatch 1 MP:0005107 abnormal stapes morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-06 CdL4 HP:0000400 Macrotia skos:exactMatch 1 MP:0000017 big ears semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-07 CDL (Orpha) HP:0000426 Prominent nasal bridge skos:exactMatch 1 MP:0030037 prominent nasal bridge semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-07 CdL2, 3, 5 HP:0000455 Broad nasal tip skos:narrowMatch 1 MP:0030115 abnormal nasal tip morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-07 CdL5 HP:0000463 Anteverted nares skos:narrowMatch 1 MP:0002235 abnormal external nares morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-07 CdL, CDL1, 2, 3, 4, 5 HP:0000482 Microcornea skos:narrowMatch 1 MP:0001312 abnormal cornea morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-07 CdL, CDL1| ticket 3780 HP:0000483 Astigmatism skos:exactMatch 0.9 MP:0006151 astigmatism semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-07 CDL1| MP term is in morphology HP is under physiology HP:0000490 Deeply set eye skos:exactMatch 0.9 MP:0006198 enophthalmos semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-07 CdL5 add synonym HP:0000494 Downslanted palpebral fissures skos:narrowMatch 1 MP:0003671 abnormal eyelid aperture semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-07 CdL2 HP:0000498 Blepharitis skos:exactMatch 1 MP:0005251 blepharitis semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-07 CDL (Orpha) HP:0000501 Glaucoma skos:relatedMatch 0.9 MP:0008067 retina ganglion cell degeneration semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-07 CDL (Orpha) HP:0000506 Telecanthus skos:exactMatch 1 MP:0030166 increased inner canthal distance semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-10 CdL5 HP:0000518 Cataract skos:exactMatch 0.9 MP:0001304 cataract semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-10 CDL (Orpha) some uncertainty as the MP term does not mention the lens capsule, note in the MP the capsule is part of the lens so I think opacity in the capsule would be covered by the MP term HP:0000545 Myopia skos:exactMatch 1 MP:0003100 myopia semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-10 CdL, CDL1, 3, 5 HP:0000574 Thick eyebrow skos:narrowMatch 1 MP:0000367 abnormal coat/ hair morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-10 CDL (Orpha), CdL2, 3, 4 should we consider more specific terms? HP:0000664 Synophrys skos:narrowMatch 1 MP:0000367 abnormal coat/ hair morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-10 CdL, CDL1, 2, 3, 4, 5 HP:0000667 Phthisis bulbi skos:exactMatch 0.9 MP:0006249 phthisis bulbi semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-10 CDL (Orpha) | definitions are slightly different, MP makes no mention of ocular pressure but I think these are intended to be the same concept HP:0000684 Delayed eruption of teeth skos:broadMatch 0.9 MP:0003053 delayed tooth eruption semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-11-16 CdL, CDL1 | uncertainty based on the inclusion of 'no permanent dentition' as a child in the HP. Both MP and HP have failure of eruption as a sibling, implying that delayed means late but not failed HP:0000687 Widely spaced teeth skos:narrowMatch 1 MP:0030540 misaligned teeth semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-10 CdL, CDL1, 5 HP:0000691 Microdontia skos:exactMatch 1 MP:0030088 microdontia semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-11 CdL3 HP:0000717 Autism skos:relatedMatch 1 MP:0002572 abnormal emotion/affect behavior semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-11 CDL (Orpha) HP:0000717 Autism skos:relatedMatch 1 MP:0002557 abnormal social/conspecific interaction behavior semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-11 HP:0000722 Compulsive behaviors skos:relatedMatch 1 MP:0001408 stereotypic behavior semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-11 CDL (Orpha) HP:0000750 Delayed speech and language development skos:narrowMatch 1 MP:0001529 abnormal vocalization semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-11 CDL1 HP:0000750 Delayed speech and language development skos:relatedMatch 1 MP:0021165 behavioral developmental delay semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-11 HP:0000786 Primary amenorrhea skos:relatedMatch 1 MP:0009009 absent estrous cycle semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-11 CDL (Orpha) HP:0000786 Primary amenorrhea skos:narrowMatch 1 MP:0003376 amenorrhea semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-11 HP:0000879 Short sternum skos:exactMatch 1 MP:0004321 short sternum semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-11 CDL1 HP:0000954 Single transverse palmar crease skos:narrowMatch 1 MP:0000572 abnormal autopod morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-11 CDL1, 3, 4 HP:0000965 Cutis marmorata skos:relatedMatch 1 MP:0009931 abnormal skin appearance semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-11 CDL, CdL1, 2, 3, 4, 5 HP:0001007 Hirsutism skos:relatedMatch 1 MP:0000412 excessive hair semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-11 CDL1, 2, 3, 5 HP:0001052 Nevus flammeus skos:narrowMatch 1 MP:0001212 skin lesions semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-11 CdL3 HP:0001156 Brachydactyly skos:narrowMatch 0.9 MP:0002544 brachydactyly semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-11-16 CdL2, 3, 4 | the MP definition does not mention 'disproportionately' short we may want to modify this HP:0001180 Hand oligodactyly skos:narrowMatch 1 MP:0000565 oligodactyly semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-11 CDL1 | MP ticket 3783 HP:0001249 Intellectual disability skos:narrowMatch 1 MP:0014114 abnormal cognition semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-11 CdL, CDL1, 2, 3, 5 HP:0001263 Global developmental delay skos:relatedMatch 1 MP:0021165 behavioral developmental delay semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-11 CdL2, 3, 4, 5 HP:0001357 Plagiocephaly skos:narrowMatch 0.9 MP:0012174 flat head semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-11-16 CdL3| synonyms include flattening of the head and definition in HPO includes unilateral occipital flattening with ipsilateral frontal prominence based on this I called these close HP:0001377 Limited elbow extension skos:narrowMatch 1 MP:0013945 abnormal elbow joint morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-11 CDL1, 5 HP:0001387 Joint stiffness skos:narrowMatch 1 MP:0030863 decreased joint mobility semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-11 CDL (Orpha) HP:0001476 Delayed closure of the anterior fontanelle skos:narrowMatch 1 MP:0030393 delayed fontanelle closure semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-11 CdL3 HP:0001488 Bilateral ptosis skos:narrowMatch 1 MP:0001344 blepharoptosis semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-11 CdL4 HP:0001508 Failure to thrive skos:narrowMatch 0.9 MP:0001732 postnatal growth retardation semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-11-16 CDL (Orpha) HP:0001551 Abnormal umbilicus morphology skos:narrowMatch 1 MP:0003257 abnormal abdominal wall morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-12 CDL1 HP:0001557 Prenatal movement abnormality skos:narrowMatch 1 MP:0002066 abnormal motor capabilities/coordination/movement semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-12 CDL (Orpha) should add a term for abnormal prenatal movement HP:0001612 Weak cry skos:narrowMatch 1 MP:0001529 abnormal vocalization semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-12 CDL1 HP:0001622 Premature birth skos:relatedMatch 1 MP:0002294 short gestation period semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-12 CDL (Orpha) HP:0001639 Hypertrophic cardiomyopathy skos:narrowMatch 1 MP:0002952 ventricular cardiomyopathy semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-12 CdL2 HP:0001639 Hypertrophic cardiomyopathy skos:relatedMatch 1 MP:0002953 thick ventricular wall semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-12 HP:0001770 Toe syndactyly skos:narrowMatch 1 MP:0000564 syndactyly semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-12 CDL, CdL3, 5 | MP ticket 3783 HP:0001773 Short foot skos:exactMatch 1 MP:0002772 brachypodia semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-12 CDL, CdL2, 3, 5 | eq uses pes from Uberon which is the hind foot making this an exact match, should review the MP definition to make this clear as it currently uses 'feet' which can be ambiguous; not sure where the label came from originally, Googling it is useless you get plants HP:0001883 Talipes skos:broadMatch 1 MP:0000576 clubfoot semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-12 CDL (Orpha) HP:0001956 Truncal obesity skos:narrowMatch 1 MP:0001261 obese semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-12 CDL, CdL5 HP:0002007 Frontal bossing skos:exactMatch 1 MP:0030262 frontal bossing semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-12 CdL3 HP:0002036 Hiatus hernia skos:exactMatch 1 MP:0003258 hiatal hernia semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-12 CDL1| add synonyms HP:0002120 Cerebral cortical atrophy skos:relatedMatch 1 MP:0003241 loss of cortex neurons semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-12 CDL (Orpha) HP:0002120 Cerebral cortical atrophy skos:relatedMatch 1 MP:0006254 thin cerebral cortex semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-12 HP:0002162 Low posterior hairline skos:narrowMatch 1 MP:0000367 abnormal coat/ hair morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-12 CdL, CDL1 HP:0002167 Abnormality of speech or vocalization skos:narrowMatch 0.9 MP:0001529 abnormal vocalization semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-11-16 CDL (Orpha) | I think these are representing similar concepts but the location in the hierarchy is different. MP puts this under abnormal behavior. HPO has it under higher mental function under nervous system. Hpo also defines this as the sound of a person's speech or vocalization while the MP definition is inability, decreased ability or altered ability to produce sound from the vocal organs which seems maybe broader. MP uses the NBO term http://purl.obolibrary.org/obo/NBO_0000037 in the eq, HP has no eq HP:0002230 Generalized hirsutism skos:relatedMatch 1 MP:0000412 excessive hair semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-12 CDL (Orpha) HP:0002360 Sleep disturbance skos:exactMatch 0.9 MP:0011396 abnormal sleep behavior semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-12 CDL (Orpha) HP:0002465 Poor speech skos:narrowMatch 1 MP:0001529 abnormal vocalization semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-12 CdL2, 3 HP:0002553 Highly arched eyebrow skos:narrowMatch 1 MP:0000367 abnormal coat/ hair morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-12 CDL, CdL1, 2, 3, 4, 5 HP:0002557 Hypoplastic nipples skos:narrowMatch 1 MP:0013713 decreased nipple size semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-11-16 CdL, CDL1 HP:0002566 Intestinal malrotation skos:exactMatch 1 MP:0014279 abnormal intestinal rotation semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-01 CdL, CDL4 HP:0002580 Volvulus skos:exactMatch 1 MP:0000477 abnormal intestine morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-12 CDL (Orpha) HP:0002678 Skull asymmetry skos:narrowMatch 1 MP:0000438 abnormal cranium morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-12 CdL4 HP:0002705 High, narrow palate skos:narrowMatch 1 MP:0003757 high palate semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-12 CDL1 HP:0002705 High, narrow palate skos:narrowMatch 1 MP:0003758 narrow palate semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-12 HP:0002714 Downturned corners of mouth skos:exactMatch 1 MP:0003749 down-turned corners of mouth semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-12 CdL, CDL1, 2, 3, 5 HP:0002750 Delayed skeletal maturation skos:narrowMatch 1 MP:0002113 abnormal skeleton development semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-12 CdL, CDL1| MP ticket 3785 HP:0002812 Coxa vara skos:exactMatch 1 MP:0030790 coxa vara semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-12 CdL4 HP:0002827 Hip dislocation skos:exactMatch 1 MP:0030796 hip dislocation semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-12 CDL (Orpha) HP:0002974 Radioulnar synostosis skos:exactMatch 1 MP:0011530 fused radius and ulna semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-13 CdL, CDL4| add synonym HP:0002983 Micromelia skos:exactMatch 0.9 MP:0000547 short limbs semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-13 CdL, CDL1| there is an MP term micromelia that is a child of short limbs but it specifies disproportionately short and the HPO term just specifies 'small extremities' HP:0002984 Hypoplasia of the radius skos:broadMatch 0.9 MP:0004356 radius hypoplasia semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-11-16 CDL1| the MP distinguishes between small and hypoplastic with hypoplastic usually a child of small. The HPO usually uses these as synonyms, so these may not always mean exactly the same thing HP:0002987 Elbow flexion contracture skos:narrowMatch 0.9 MP:0030798 joint contracture semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-13 CDL1| the MP puts this under physiology and the HP has it under morphology and physiology HP:0002996 Limited elbow movement skos:narrowMatch 1 MP:0030863 decreased joint mobility semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-13 CdL2, 3| the MP puts this under physiology and the HP has it under morphology HP:0003042 Elbow dislocation skos:exactMatch 1 MP:0030843 elbow dislocation semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-13 CDL (Orpha) HP:0003083 Dislocated radial head skos:exactMatch 1 MP:0030883 dislocated radius head semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-13 CDL1 HP:0003196 Short nose skos:relatedMatch 1 MP:0000445 short snout semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-13 CdL, CDL4| short snout has the synonym 'short nose' but snout is disjoint from taxon Homo sapiens in Uberon HP:0003764 Nevus skos:narrowMatch 1 MP:0001212 skin lesions semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-13 CdL5 HP:0003997 Hypoplastic radial head skos:narrowMatch 1 MP:0030882 abnormal radius head morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-13 CDL1 HP:0003997 Hypoplastic radial head skos:narrowMatch 1 MP:0004356 radius hypoplasia semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-13 HP:0004691 2-3 toe syndactyly skos:narrowMatch 1 MP:0000564 syndactyly semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-13 CDL1, 4 HP:0004785 Malrotation of colon skos:narrowMatch 1 MP:0000495 abnormal colon morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-13 CDL1| MP ticket 3786 HP:0005280 Depressed nasal bridge skos:exactMatch 1 MP:0030034 depressed nasal bridge semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-13 CdL, CDL1, 3, 5 HP:0005484 Secondary microcephaly skos:narrowMatch 1 MP:0000433 microcephaly semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-13 CdL3 HP:0005565 Reduced renal corticomedullary differentiation skos:narrowMatch 1 MP:0002135 abnormal kidney morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-14 CDL1 HP:0006870 Lobar holoprosencephaly skos:narrowMatch 1 MP:0005157 holoprosencephaly semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-14 CdL4| MP ticket 3787 HP:0007018 Attention deficit hyperactivity disorder skos:relatedMatch 0.9 MP:0001399 hyperactivity semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-14 CDL (Orpha)| debated if this should be related or narrow match but decided on related since the HPO term is a combination of pheotypes and the MP term covers only the hyperactivity phenotype HP:0007360 Aplasia/Hypoplasia of the cerebellum skos:broadMatch 1 MP:0000852 small cerebellum semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-14 CDL (Orpha) HP:0007360 Aplasia/Hypoplasia of the cerebellum skos:broadMatch 1 MP:0000850 absent cerebellum semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-14 HP:0007598 Bilateral single transverse palmar creases skos:narrowMatch 1 MP:0000572 abnormal autopod morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-14 CDL (Orpha) HP:0007665 Curly eyelashes skos:narrowMatch 1 MP:0013895 abnormal eyelid cilium morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-14 CdL, CDL1 HP:0008428 Vertebral clefting skos:exactMatch 0.9 MP:0004687 split vertebrae semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-14 CdL4| I think these are intended to be the same but the MP definition has cleft into two parts so it could be that this is intended to be complete clefting but the definition is ambiguous HP:0008734 Decreased testicular size skos:exactMatch 0.9 MP:0001147 small testis semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-14 CdL5|HPO definition specifies 'volume' but the MP term includes weight as a child term. I think this is just a wording issue and not a real difference in meaning of the terms HP:0008736 Hypoplasia of penis skos:narrowMatch 0.9 MP:0005188 small penis semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-11-16 CDL (Orpha)|HPO term lacks a text definition, eq uses hypoplastic, MP eq uses decreased size, note that in PATO hyploplastic is not a child of decreased size, calling this narrow based on typical usage of hypoplastic in HPO as 'underdevlopment' HP:0008850 Severe postnatal growth retardation skos:narrowMatch 1 MP:0001732 postnatal growth retardation semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-17 CDL (Orpha) HP:0008872 Feeding difficulties in infancy skos:relatedMatch 0.9 MP:0001436 abnormal suckling behavior semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-17 CDL, CdL3, 5 HP:0008897 Postnatal growth retardation skos:exactMatch 1 MP:0001732 postnatal growth retardation semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-17 CdL2, 5 HP:0009237 Short 5th finger skos:narrowMatch 1 MP:0002544 brachydactyly semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-17 CdL3 HP:0009623 Proximal placement of thumb skos:narrowMatch 1 MP:0010772 abnormal pollex morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-17 CdL, CDL1, 2, 3, 5 HP:0009829 Phocomelia skos:narrowMatch 1 MP:0011504 abnormal limb long bone morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-17 CDL1 HP:0010034 Short 1st metacarpal skos:narrowMatch 1 MP:0004634 short metacarpal bones semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-17 CDL (Orpha) HP:0010300 Abnormally low-pitched voice skos:narrowMatch 1 MP:0001529 abnormal vocalization semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-17 CDL (Orpha) HP:0010864 Intellectual disability, severe skos:narrowMatch 1 MP:0014114 abnormal cognition semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-17 CDL (Orpha) HP:0011230 Laterally extended eyebrow skos:narrowMatch 1 MP:0000367 abnormal coat/ hair morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-17 CdL3 HP:0011451 Primary microcephaly skos:narrowMatch 1 MP:0000433 microcephaly semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-17 CdL3 HP:0012165 Oligodactyly skos:exactMatch 0.9 MP:0000565 oligodactyly semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-17 CDL (Orpha)| MP definition digits or parts of digits are missing while the HP has presence of fewer than the normal number of digits the parts of digits is causing some uncertainty but I think these are meant to be the same HP:0012210 Abnormal renal morphology skos:exactMatch 1 MP:0002135 abnormal kidney morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-17 CDL1 HP:0012368 Flat face skos:narrowMatch 0.9 MP:0012175 flat face semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-11-16 CdL3, 4| the difference in definition and variability in face shape across mammals makes me think this should be narrow and not exact HP:0030084 Clinodactyly skos:exactMatch 1 MP:0006253 clinodactyly semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-17 CdL2 HP:0030680 Abnormality of cardiovascular system morphology skos:exactMatch 1 MP:0002127 abnormal cardiovascular system morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-17 CDL (Orpha)| the HPO term specifies 'great vessels' but the child terms include all vessels so I think these are the same HP:0030820 Hooded eyelid skos:narrowMatch 1 MP:0001340 abnormal eyelid morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-17 CdL3 HP:0031228 Abnormal incisura morphology skos:narrowMatch 1 MP:0002177 abnormal outer ear morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-17 CDL1 HP:0033785 Enamel agenesis skos:exactMatch 0.8 MP:0003404 absent enamel semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-11-16 CdL4| agenesis implies a developmental issue but the definition of the HPO term does not mention development, still called this exact but increased uncertainty as the MP term is total absence and HP is partial or complete absence HP:0040082 Happy demeanor skos:narrowMatch 1 MP:0002572 abnormal emotion/affect behavior semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-17 CdL5 HP:0100716 Self-injurious behavior skos:narrowMatch 1 MP:0005655 increased aggression semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-17 CDL1| match based on parent of HPO term HP:0100864 Short femoral neck skos:exactMatch 1 MP:0030793 short femur neck semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-17 CdL4 HP:0100874 Thick hair skos:narrowMatch 1 MP:0002073 abnormal hair growth semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-17 CdL3 HP:0200055 Small hand skos:narrowMatch 1 MP:0000572 abnormal autopod morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-17 CdL, CDL2, 3, 5 | MP ticket 3781 HP:0011454 Abnormality of the malleus skos:exactMatch 0.9 MP:0000029 abnormal malleus morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-02 Chd7| HPO term does not specify morphology in definition or eq but lives on the morphology branch so I called this exact HP:0000375 Abnormal cochlea morphology skos:exactMatch 1 MP:0000031 abnormal cochlea morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-02 Chd7 HP:0011376 Morphological abnormality of the vestibule of the inner ear skos:exactMatch 1 MP:0000034 abnormal inner ear vestibule morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-02 Chd7 HP:0011390 Morphological abnormality of the inner ear skos:broadMatch 1 MP:0000039 abnormal otic capsule morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-02 Chd7 HP:0001627 Abnormal heart morphology skos:broadMatch 1 MP:0000267 abnormal heart development semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-04 Chd7 HP:0001713 Abnormal cardiac ventricle morphology skos:broadMatch 1 MP:0000280 thin ventricular wall semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-04 Chd7 HP:0001627 Abnormal heart morphology skos:broadMatch 1 MP:0000297 abnormal atrioventricular cushion morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-04 Chd7 HP:0031377 Abnormal cell proliferation skos:broadMatch 1 MP:0000352 decreased cell proliferation semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-04 Chd7 HP:0000234 Abnormality of the head skos:exactMatch 0.9 MP:0000428 abnormal craniofacial morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-04 CHARGE model not Chd7| some uncertainty based on differences in children but I think these are more likely oversites then intended differences HP:0000271 Abnormality of the face skos:broadMatch 1 MP:0000446 long snout semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-04 Chd7 HP:0030966 Abnormal pulmonary artery morphology skos:broadMatch 1 MP:0000486 abnormal pulmonary trunk morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-04 Chd7 HP:0002814 Abnormality of the lower limb skos:exactMatch 1 MP:0000556 abnormal hindlimb morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-04 Chd7| MP ticket 3803 HP:0000778 Hypoplasia of the thymus skos:narrowMatch 0.9 MP:0000706 small thymus semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-11-16 Chd7| HPO uses hypoplasia and small as synonyms, MP distinguishes between these but I think the majority of the time MP small = HP hypoplasia HP:0001273 Abnormal corpus callosum morphology skos:exactMatch 1 MP:0000780 abnormal corpus callosum morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-04 Chd7 HP:0100547 Abnormal forebrain morphology skos:broadMatch 1 MP:0000787 abnormal telencephalon morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-16 Chd7 HP:0002060 Abnormal cerebral morphology skos:narrowMatch 1 MP:0000787 abnormal telencephalon morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-16 Chd7| HPO uses telencephalon as a synonym of cerebrum but the MP has this defined as 'consists of the paired cerebral hemispheres and olfactory bulbs, the basal ganglia and the connecting structure' HP:0002060 Abnormal cerebral morphology skos:broadMatch 1 MP:0000794 abnormal parietal lobe morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-16 Chd7 HP:0002538 Abnormal cerebral cortex morphology skos:broadMatch 1 MP:0000798 abnormal frontal lobe morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-16 Chd7 HP:0007333 Hypoplasia of the frontal lobes skos:narrowMatch 1 MP:0000798 abnormal frontal lobe morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-16 HP:0025100 Abnormal hippocampus morphology skos:exactMatch 1 MP:0000807 abnormal hippocampus morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-16 Chd7 HP:0025100 Abnormal hippocampus morphology skos:broadMatch 1 MP:0000809 absent hippocampus semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-16 Chd7 HP:0025057 Abnormality of olfactory lobe morphology skos:exactMatch 1 MP:0000819 abnormal olfactory bulb morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-16 Chd7 HP:0006956 Lateral ventricle dilatation skos:exactMatch 1 MP:0000825 dilated lateral ventricle semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-16 Chd7 HP:0007082 Dilated third ventricle skos:exactMatch 1 MP:0000827 dilated third ventricle semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-16 Chd7 HP:0001317 Abnormal cerebellum morphology skos:broadMatch 1 MP:0000857 abnormal cerebellar foliation semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-16 Chd7 HP:0001317 Abnormal cerebellum morphology skos:broadMatch 1 MP:0000877 abnormal Purkinje cell morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-16 Chd7 HP:0001317 Abnormal cerebellum morphology skos:broadMatch 1 MP:0000880 decreased Purkinje cell number semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-16 Chd7 HP:0012443 Abnormality of brain morphology skos:broadMatch 1 MP:0000913 abnormal brain development semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-16 Chd7 HP:0030769 Exencephaly skos:closeMatch 0.8 MP:0000914 exencephaly semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-11-16 CHARGE model not Chd7| MP has this under brain development and defined as neurocranial defects resulting in exposure or extrusion of the brain, HPO has under neural tube defects and defined as A malformation of the neural tube with a large amount of protruding brain tissue and absence of calvarium; discussed with Cindy leaving this as is in the MP as it isn't always a neural tube defect HP:0100547 Abnormal forebrain morphology skos:broadMatch 1 MP:0000934 abnormal telencephalon development semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-17 Chd7 HP:0100705 Abnormal glial cell morphology skos:broadMatch 0.8 MP:0000952 abnormal CNS glial cell morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-17 Chd7| calling this broad based on the text and eq, but based on location in the HPO these would be exact HP:0100705 Abnormal glial cell morphology skos:broadMatch 1 MP:0000953 abnormal oligodendrocyte morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-17 Chd7 HP:0012639 Abnormal nervous system morphology skos:broadMatch 1 MP:0000968 abnormal sensory neuron innervation pattern semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-17 Chd7 HP:0001291 Abnormal cranial nerve morphology skos:exactMatch 1 MP:0001056 abnormal cranial nerve morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-17 Chd7 HP:0010827 Abnormality of the seventh cranial nerve skos:broadMatch 0.9 MP:0001071 abnormal facial nerve morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-11-16 CHARGE model not Chd7, made this broad since the HPO definition is not limited to morphology even though this is placed on the morphology branch HP:0001291 Abnormal cranial nerve morphology skos:broadMatch 1 MP:0001074 abnormal vagus nerve morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-17 Chd7 HP:0410016 Abnormal cranial ganglion morphology skos:broadMatch 1 MP:0001092 abnormal trigeminal ganglion morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-17 Chd7 HP:0008724 Hypoplasia of the ovary skos:narrowMatch 1 MP:0001127 small ovary semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-11-16 Chd7 HP:0031065 Abnormal ovarian morphology skos:broadMatch 1 MP:0001129 impaired ovarian folliculogenesis semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-17 Chd7 HP:0000022 Abnormal male internal genitalia morphology skos:broadMatch 1 MP:0001157 small seminal vesicle semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-17 CHARGE model not Chd7 HP:0012372 Abnormal eye morphology skos:broadMatch 1 MP:0001286 abnormal eye development semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-17 Chd7 HP:0012376 Microphakia skos:exactMatch 1 MP:0001306 small lens semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-17 Chd7| MP puts spherophakia under small lens but HPO has this as a sibling HP:0000615 Abnormal pupil morphology skos:exactMatch 0.9 MP:0001317 abnormal pupil morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-17 Chd7| label is morphology but definition is less specific HP:0012433 Abnormal social behavior skos:broadMatch 1 MP:0001386 abnormal maternal nurturing semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-17 Chd7 HP:0100022 Abnormality of movement skos:broadMatch 1 MP:0001388 abnormal stationary movement semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-17 Chd7 HP:5200069 Spinning skos:relatedMatch 0.9 MP:0001395 bidirectional circling semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-01 Chd7 HP:0002275 Poor motor coordination skos:exactMatch 0.9 MP:0001405 impaired coordination semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-17 Chd7| MP term lives under behavior HPO is under nervous system, most of the MP annotations are for balance related assays while the HPO term has a child of fine motor coordination which may result in some mismatch between the terms in practice HP:0002457 Abnormal head movements skos:broadMatch 1 MP:0001410 head bobbing semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-17 Chd7 HP:0002071 Abnormality of extrapyramidal motor function skos:broadMatch 0.9 MP:0001489 decreased startle reflex semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-17 Chd7| mapping based primarily on the HPO term being a parent of Exaggerated startle response HP:0025403 Stooped posture skos:relatedMatch 0.9 MP:0001512 trunk curl semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-17 Chd7 HP:0011443 Abnormality of coordination skos:exactMatch 1 MP:0001516 abnormal motor coordination/balance semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-17 Chd7 HP:0007015 Poor gross motor coordination skos:broadMatch 1 MP:0001522 impaired swimming semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-17 Chd7 HP:0002275 Poor motor coordination skos:broadMatch 1 MP:0001523 impaired righting response semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-17 Chd7 HP:0011443 Abnormality of coordination skos:broadMatch 1 MP:0001526 abnormal placing response semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-17 Chd7 HP:0012379 Abnormal circulating enzyme concentration or activity skos:broadMatch 1 MP:0001570 abnormal circulating enzyme level semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-17 Chd7 HP:0033353 Abnormal blood vessel morphology skos:exactMatch 1 MP:0001614 abnormal blood vessel morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-17 CHARGE model not Chd7 HP:0000969 Edema skos:exactMatch 1 MP:0001785 edema semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-17 Chd7 HP:0000388 Otitis media skos:relatedMatch 1 MP:0001850 increased susceptibility to otitis media semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-17 Chd7 HP:0000509 Conjunctivitis skos:exactMatch 1 MP:0001852 conjunctivitis semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-17 Chd7 HP:0011029 Internal hemorrhage skos:narrowMatch 1 MP:0001914 hemorrhage semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-17 Chd7 HP:0000144 Decreased fertility skos:broadMatch 1 MP:0001921 reduced fertility semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-17 Chd7| MP has infertility as a sibling of reduced fertility but HP has infertility as a child making these not exact matches HP:0012041 Decreased fertility in males skos:broadMatch 1 MP:0001922 reduced male fertility semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-17 Chd7 HP:0000868 Decreased fertility in females skos:broadMatch 1 MP:0001923 reduced female fertility semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-17 Chd7 HP:0000140 Abnormality of the menstrual cycle skos:relatedMatch 1 MP:0001927 abnormal estrous cycle semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-17 Chd7 HP:0008734 Decreased testicular size skos:broadMatch 1 MP:0001940 testis hypoplasia semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-17 Chd7 HP:0010829 Impaired temperature sensation skos:relatedMatch 1 MP:0001973 increased thermal nociceptive threshold semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-17 Chd7 HP:0004408 Abnormality of the sense of smell skos:narrowMatch 1 MP:0001983 abnormal olfactory system physiology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-17 Chd7 HP:0012639 Abnormal nervous system morphology skos:broadMatch 1 MP:0002184 abnormal innervation semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-17 Chd7 HP:0030681 Abnormal morphology of myocardial trabeculae skos:exactMatch 1 MP:0002189 abnormal myocardial trabeculae morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-17 Chd7 HP:0000035 Abnormal testis morphology skos:broadMatch 1 MP:0002216 abnormal seminiferous tubule morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-22 Chd7 HP:0005288 Abnormal nostril morphology skos:broadMatch 1 MP:0002236 abnormal internal nares morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-22 Chd7 HP:0033151 Abnormal pharynx morphology skos:broadMatch 1 MP:0002252 abnormal oropharynx morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-22 CHARGE model not Chd7 HP:0011380 Morphological abnormality of the semicircular canal skos:exactMatch 1 MP:0002428 abnormal semicircular canal morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-22 Chd7 HP:0000375 Abnormal cochlea morphology skos:broadMatch 1 MP:0002622 abnormal cochlear hair cell morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-22 Chd7 HP:0001660 Truncus arteriosus skos:exactMatch 1 MP:0002633 persistent truncus arteriosis semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-22 CHARGE model not Chd7 HP:0000823 Delayed puberty skos:relatedMatch 1 MP:0002636 delayed vaginal opening semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-22 Chd7 HP:0012153 Hypotriglyceridemia skos:exactMatch 1 MP:0002644 decreased circulating triglyceride level semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-22 Chd7 HP:0001637 Abnormal myocardium morphology skos:broadMatch 1 MP:0002652 thin myocardium semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-22 Chd7 HP:0010948 Abnormal fetal cardiovascular morphology skos:broadMatch 1 MP:0002672 abnormal pharyngeal arch artery morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-22 Chd7 HP:0000823 Delayed puberty skos:relatedMatch 1 MP:0002683 delayed fertility semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-22 Chd7 HP:0040299 Decreased circulating free fatty acid level skos:exactMatch 1 MP:0002702 decreased circulating free fatty acids level semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-22 Chd7 HP:0040216 Hypoinsulinemia skos:exactMatch 1 MP:0002727 decreased circulating insulin level semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-22 Chd7 HP:0002457 Abnormal head movements skos:broadMatch 1 MP:0002730 head shaking semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-22 Chd7 HP:0040326 Hypoplasia of the olfactory bulb skos:narrowMatch 1 MP:0002741 small olfactory bulb semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-11-16 Chd7 HP:0031422 Abnormal cerebellar cortex morphology skos:broadMatch 1 MP:0002762 ectopic cerebellar granule cells semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-22 Chd7 HP:0030344 Decreased circulating luteinizing hormone level skos:exactMatch 1 MP:0002773 decreased circulating luteinizing hormone level semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-22 Chd7 HP:0030341 Decreased circulating follicle stimulating hormone concentration skos:exactMatch 1 MP:0002790 decreased circulating follicle stimulating hormone level semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-22 Chd7 HP:0001640 Cardiomegaly skos:broadMatch 1 MP:0002833 increased heart weight semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-22 CHARGE model not Chd7 HP:0040107 Morphological abnormality of the posterior semicircular canal skos:exactMatch 1 MP:0002858 abnormal posterior semicircular canal morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-22 Chd7 HP:0011384 Abnormality of the internal auditory canal skos:broadMatch 1 MP:0002859 abnormal inner ear canal fusion semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-22 Chd7 HP:0012379 Abnormal circulating enzyme concentration or activity skos:broadMatch 1 MP:0002942 decreased circulating alanine transaminase level semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-22 Chd7 HP:0000089 Renal hypoplasia skos:narrowMatch 1 MP:0002989 small kidney semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-11-16 CHARGE model not Chd7 HP:0010517 Ectopic thymus tissue skos:exactMatch 1 MP:0003007 ectopic thymus semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-22 Chd7 HP:0040108 Morphological abnormality of the anterior semicircular canal skos:exactMatch 1 MP:0003069 abnormal superior semicircular canal morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-22 Chd7 HP:0000055 Abnormality of female external genitalia skos:exactMatch 0.9 MP:0003126 abnormal external female genitalia morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-22 Chd7 HP:0000375 Abnormal cochlea morphology skos:broadMatch 1 MP:0003148 decreased cochlear coiling semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-22 Chd7 HP:0040106 Morphological abnormality of the lateral semicircular canal skos:broadMatch 1 MP:0003161 absent lateral semicircular canal semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-22 Chd7 HP:0011381 Aplasia of the semicircular canal skos:broadMatch 1 MP:0003161 absent lateral semicircular canal semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-22 Chd7 HP:0040106 Morphological abnormality of the lateral semicircular canal skos:broadMatch 1 MP:0003162 decreased lateral semicircular canal size semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-22 Chd7 HP:0011381 Aplasia of the semicircular canal skos:broadMatch 1 MP:0003163 absent posterior semicircular canal semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-22 Chd7 HP:0040107 Morphological abnormality of the posterior semicircular canal skos:broadMatch 1 MP:0003163 absent posterior semicircular canal semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-22 Chd7 HP:0040107 Morphological abnormality of the posterior semicircular canal skos:broadMatch 1 MP:0003164 decreased posterior semicircular canal size semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-22 Chd7 HP:0040108 Morphological abnormality of the anterior semicircular canal skos:broadMatch 1 MP:0003166 decreased superior semicircular canal size semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-22 Chd7 HP:0002529 Neuronal loss in central nervous system skos:relatedMatch 1 MP:0003203 increased neuron apoptosis semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-22 Chd7 HP:4000056 Abnormal apoptosis skos:broadMatch 1 MP:0003222 increased cardiomyocyte apoptosis semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-22 Chd7 HP:0040115 Abnormal Eustachian tube morphology skos:exactMatch 1 MP:0003330 abnormal auditory tube morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-22 Chd7 HP:0031251 Abnormal subclavian artery morphology skos:exactMatch 1 MP:0003395 abnormal subclavian artery morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-22 Chd7 HP:0031794 Decreased circulating glycerol level skos:exactMatch 1 MP:0003442 decreased circulating glycerol level semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-22 Chd7 HP:0032466 Aplasia of the olfactory bulb skos:narrowMatch 1 MP:0003451 absent olfactory bulb semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-11-16 Chd7 HP:0410016 Abnormal cranial ganglion morphology skos:broadMatch 1 MP:0003703 abnormal vestibulocochlear ganglion morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-22 Chd7 HP:0003103 Abnormal cortical bone morphology skos:exactMatch 1 MP:0003797 abnormal compact bone morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-22 Chd7 HP:0031703 Abnormal ear morphology skos:broadMatch 1 MP:0003938 abnormal ear development semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-22 Chd7 HP:0003119 Abnormal circulating lipid concentration skos:exactMatch 1 MP:0003949 abnormal circulating lipid level semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-22 Chd7 HP:0001511 Intrauterine growth retardation skos:broadMatch 1 MP:0003984 embryonic growth retardation semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-22 Chd7 HP:0033334 Abnormal embryonic development skos:broadMatch 1 MP:0004188 delayed embryo turning semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-22 Chd7 HP:0011380 Morphological abnormality of the semicircular canal skos:broadMatch 1 MP:0004249 abnormal crista ampullaris morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-23 Chd7 HP:0410043 Abnormal neural tube morphology skos:broadMatch 1 MP:0004261 abnormal embryonic neuroepithelium morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-23 Chd7 HP:0012372 Abnormal eye morphology skos:broadMatch 1 MP:0004269 abnormal optic cup morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-23 Chd7 HP:0008628 Abnormality of the stapes skos:broadMatch 1 MP:0004290 abnormal stapes footplate morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-23 Chd7 HP:0000359 Abnormality of the inner ear skos:broadMatch 1 MP:0004310 small otic vesicle semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-23 Chd7 HP:0030999 Abnormal vestibular saccule morphology skos:broadMatch 1 MP:0004315 absent vestibular saccule semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-23 Chd7 HP:0040109 Morphological abnormality of the utricle skos:broadMatch 1 MP:0004369 absent utricle semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-23 Chd7 HP:0000375 Abnormal cochlea morphology skos:broadMatch 1 MP:0004395 increased cochlear inner hair cell number semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-23 Chd7 HP:0000375 Abnormal cochlea morphology skos:broadMatch 1 MP:0004401 increased cochlear outer hair cell number semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-23 Chd7 HP:0011380 Morphological abnormality of the semicircular canal skos:broadMatch 1 MP:0004409 abnormal crista ampullaris neuroepithelium morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-23 Chd7 HP:0011389 Functional abnormality of the inner ear skos:broadMatch 1 MP:0004413 absent cochlear microphonics semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-23 Chd7 HP:0011389 Functional abnormality of the inner ear skos:broadMatch 1 MP:0004417 decreased cochlear nerve compound action potential semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-23 Chd7 HP:0040100 Abnormality of the vestibular window skos:exactMatch 1 MP:0004479 abnormal oval window morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-23 Chd7 HP:0040099 Abnormality of the round window skos:exactMatch 1 MP:0004480 abnormal round window morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-23 Chd7 HP:3000047 Abnormal glossopharyngeal nerve morphology skos:broadMatch 1 MP:0004568 fusion of glossopharyngeal and vagus nerve semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-23 Chd7 HP:0030305 Decreased number of vertebrae skos:broadMatch 1 MP:0004647 decreased lumbar vertebrae number semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-23 Chd7 HP:0011392 Abnormality of the vestibular nerve skos:exactMatch 0.9 MP:0004718 abnormal vestibular nerve morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-23 Chd7| some doubt as the HPO term lacks a definition HP:0011389 Functional abnormality of the inner ear skos:broadMatch 1 MP:0004736 abnormal distortion product otoacoustic emission semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-23 Chd7 HP:0011389 Functional abnormality of the inner ear skos:broadMatch 1 MP:0004737 absent distortion product otoacoustic emissions semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-23 Chd7 HP:0012638 Abnormal nervous system physiology skos:broadMatch 1 MP:0004811 abnormal neuron physiology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-23 Chd7 HP:0008734 Decreased testicular size skos:broadMatch 1 MP:0004852 decreased testis weight semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-23 Chd7 HP:0008724 Hypoplasia of the ovary skos:broadMatch 1 MP:0004856 decreased ovary weight semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-23 Chd7 HP:0000362 Otosclerosis skos:exactMatch 1 MP:0004897 otosclerosis semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-23 Chd7 HP:0011380 Morphological abnormality of the semicircular canal skos:broadMatch 1 MP:0004922 abnormal common crus morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-23 Chd7 HP:0000364 Hearing abnormality skos:broadMatch 1 MP:0004925 decreased susceptibility to noise-induced hearing loss semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-23 Chd7 HP:0004452 Abnormality of the middle ear ossicles skos:exactMatch 0.9 MP:0005105 abnormal middle ear ossicle morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-23 Chd7| some uncertainty as the HPO term while on the morphology branch does not specify morphology in the definition HP:0011453 Abnormality of the incus skos:exactMatch 0.9 MP:0005106 abnormal incus morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-23 Chd7| some uncertainty as the HPO term while on the morphology branch does not specify morphology in the definition HP:0005599 Hypopigmentation of hair skos:broadMatch 1 MP:0005171 absent coat pigmentation semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-23 CHARGE model not Chd7 HP:0003146 Hypocholesterolemia skos:exactMatch 1 MP:0005179 decreased circulating cholesterol level semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-23 Chd7 HP:0002457 Abnormal head movements skos:broadMatch 1 MP:0005191 head tilt semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-23 Chd7 HP:0045025 Narrow palpebral fissure skos:exactMatch 1 MP:0005287 narrow eye opening semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-23 Chd7 HP:0001952 Glucose intolerance skos:narrowMatch 1 MP:0005291 abnormal glucose tolerance semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-24 Chd7|while this has the synonym 'abnormal glucose tolerance' the MP term has both improved and impaired children so this is not an exact match HP:0002457 Abnormal head movements skos:broadMatch 1 MP:0005307 head tossing semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-24 Chd7 HP:0002457 Abnormality of metabolism/homeostasis skos:narrowMatch 0.9 MP:0005376 homeostasis/metabolism phenotype semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-24 Chd7|some uncertainty due to differences in child terms, narrow since MP is not explicity abnormal HP:0000598 Abnormality of the ear skos:narrowMatch 1 MP:0005377 hearing/vestibular/ear phenotype semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-24 Chd7 HP:0000818 Abnormality of the endocrine system skos:narrowMatch 1 MP:0005379 endocrine/exocrine gland phenotype semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-24 Chd7 HP:0001197 Abnormality of prenatal development or birth skos:narrowMatch 0.9 MP:0005380 embryo phenotype semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-11-16 Chd7 HP:0011446 Abnormality of higher mental function skos:narrowMatch 1 MP:0005386 behavior/neurological phenotype semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-24 Chd7 HP:0000478 Abnormality of the eye skos:narrowMatch 1 MP:0005391 vision/eye phenotype semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-24 Chd7 HP:0010876 Abnormal circulating protein concentration skos:exactMatch 1 MP:0005416 abnormal circulating protein level semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-24 Chd7 HP:0041079 Decreased body fat percentage skos:exactMatch 1 MP:0005459 decreased percent body fat/body weight semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-24 Chd7 HP:0000517 Abnormal lens morphology skos:broadMatch 1 MP:0005545 abnormal lens development semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-24 Chd7 HP:0003075 Hypoproteinemia skos:exactMatch 0.8 MP:0005567 decreased circulating total protein level semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-11-16 Chd7|called exact but with uncertainty as looking this up it seems like HPO terms is all proteins but the definition is not entirely clear HP:0002900 Hypokalemia skos:exactMatch 0.9 MP:0005628 decreased circulating potassium level semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-11-16 Chd7|MP has a seperate term for Hypokalemia that is a child of this term and one for erythrocyte levels specifically HP:0012379 Abnormal circulating enzyme concentration or activity skos:broadMatch 1 MP:0005632 decreased circulating aspartate transaminase level semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-29 Chd7 HP:0012285 Abnormal hypothalamus physiology skos:exactMatch 1 MP:0005645 abnormal hypothalamus physiology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-29 Chd7 HP:0012638 Abnormal nervous system physiology skos:broadMatch 1 MP:0005646 abnormal pituitary gland physiology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-29 Chd7 HP:0012245 Sex reversal skos:exactMatch 1 MP:0005652 sex reversal semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-30 CHARGE model not Chd7 HP:0031703 Abnormal ear morphology skos:broadMatch 1 MP:0006030 abnormal otic vesicle development semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-30 Chd7 HP:4000056 Abnormal apoptosis skos:broadMatch 1 MP:0006042 increased apoptosis semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-30 CHARGE model not Chd7 HP:4000056 Abnormal apoptosis skos:broadMatch 1 MP:0006043 decreased apoptosis semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-30 Chd7 HP:0012757 Abnormal neuron morphology skos:broadMatch 1 MP:0006092 abnormal olfactory sensory neuron morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-30 Chd7 HP:0011297 Abnormal digit morphology skos:broadMatch 1 MP:0006280 abnormal digit development semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-30 Chd7 HP:0012372 Abnormal eye morphology skos:broadMatch 1 MP:0006305 abnormal optic eminence morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-30 Chd7 HP:0010948 Abnormal fetal cardiovascular morphology skos:broadMatch 1 MP:0006354 abnormal fourth pharyngeal arch artery morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-30 Chd7 HP:0010948 Abnormal fetal cardiovascular morphology skos:broadMatch 1 MP:0006355 abnormal sixth pharyngeal arch artery morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-30 Chd7 HP:0003111 Abnormal blood ion concentration skos:narrowMatch 1 MP:0006357 abnormal circulating mineral level semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-30 Chd7 HP:0005930 Abnormal epiphysis morphology skos:broadMatch 1 MP:0006396 decreased long bone epiphyseal plate size semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-30 Chd7 HP:0040218 Reduced natural killer cell count skos:broadMatch 1 MP:0008039 increased NK T cell number semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-30 Chd7 HP:0011376 Morphological abnormality of the vestibule of the inner ear skos:broadMatch 1 MP:0008066 small endolymphatic duct semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-30 Chd7 HP:0025517 Hypoplastic hippocampus skos:narrowMatch 1 MP:0008283 small hippocampus semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-30 Chd7 HP:0011454 Abnormality of the malleus skos:broadMatch 1 MP:0008374 abnormal malleus manubrium morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-30 Chd7 HP:0000479 Abnormal retinal morphology skos:broadMatch 1 MP:0008446 decreased retina cone cell number semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-30 Chd7 HP:0000479 Abnormal retinal morphology skos:broadMatch 1 MP:0008449 abnormal retina cone cell outer segment morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-30 Chd7 HP:0000479 Abnormal retinal morphology skos:broadMatch 1 MP:0008456 abnormal retina rod cell outer segment morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-30 Chd7 HP:0007082 Dilated third ventricle skos:exactMatch 0.9 MP:0008536 enlarged third ventricle semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-30 Chd7| some uncertainty as the MP has a separate term for dilated third ventricle but the definition of the HP term is An increase in size of the third ventricle, so I think these are exact matches HP:0002538 Abnormal cerebral cortex morphology skos:broadMatch 1 MP:0008547 abnormal neocortex morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-30 Chd7 HP:0031295 Left atrial enlargement skos:narrowMatch 1 MP:0008725 enlarged heart atrium semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-30 CHARGE model not Chd7 HP:0030718 Right atrial enlargement skos:narrowMatch 1 MP:0008725 enlarged heart atrium semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-30 HP:0005105 Abnormal nasal morphology skos:broadMatch 1 MP:0008789 abnormal olfactory epithelium morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-30 Chd7 HP:0002149 Hyperuricemia skos:exactMatch 1 MP:0008821 increased blood uric acid level semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-30 Chd7 HP:0007485 Absence of subcutaneous fat skos:exactMatch 1 MP:0008843 absent subcutaneous adipose tissue semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-30 CHARGE model not Chd7 HP:0003758 Reduced subcutaneous adipose tissue skos:exactMatch 1 MP:0008844 decreased subcutaneous adipose tissue amount semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-30 CHARGE model not Chd7 HP:0012638 Abnormal nervous system physiology skos:broadMatch 1 MP:0008917 abnormal oligodendrocyte physiology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-30 Chd7 HP:0031422 Abnormal cerebellar cortex morphology skos:broadMatch 1 MP:0008924 decreased cerebellar granule cell number semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-30 Chd7 HP:0012757 Abnormal neuron morphology skos:broadMatch 1 MP:0008946 abnormal neuron number semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-30 Chd7 HP:0012757 Abnormal neuron morphology skos:broadMatch 1 MP:0008947 increased neuron number semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-30 Chd7 HP:0012757 Abnormal neuron morphology skos:broadMatch 1 MP:0008948 decreased neuron number semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-30 Chd7 HP:0002795 Abnormal respiratory system physiology skos:broadMatch 1 MP:0008963 increased carbon dioxide production semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-30 Chd7 HP:0012569 Delayed menarche skos:relatedMatch 1 MP:0009008 delayed estrous cycle semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-30 Chd7 HP:0034967 Uterine cyst skos:exactMatch 1 MP:0009082 uterus cyst semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-30 CHARGE model not Chd7 HP:0031105 Abnormal uterus morphology skos:broadMatch 1 MP:0009085 abnormal uterine horn morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-30 Chd7 HP:0040298 Hyperplasia of the endometrium skos:exactMatch 1 MP:0009092 endometrium hyperplasia semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-30 CHARGE model not Chd7 HP:0040254 Decreased size of the clitoris skos:broadMatch 1 MP:0009101 clitoris hypoplasia semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-31 Chd7 HP:0011751 Abnormal posterior pituitary morphogenesis skos:broadMatch 0.8 MP:0009229 abnormal neurohypophysis median eminence morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-11-16 Chd7| uncertainty as the HPO term label is morphogenesis which implies development but the definition is just generic abnormality so there is a possibility that this could include both morphology and physiology, term potentially could be narrower or broader than the MP term; decided on broad as the HPO term is the neurohypophysis and the MP uses median eminence of the neurohypophysis HP:0031422 Abnormal cerebellar cortex morphology skos:broadMatch 1 MP:0009267 abnormal cerebellum fissure morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-31 Chd7 HP:0001871 Abnormality of blood and blood-forming tissues skos:broadMatch 1 MP:0009278 abnormal bone marrow cell physiology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-31 Chd7 HP:0100705 Abnormal glial cell morphology skos:broadMatch 1 MP:0009808 decreased oligodendrocyte number semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-31 Chd7 HP:0000175 Cleft palate skos:broadMatch 0.8 MP:0009890 cleft secondary palate semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-11-16 Chd7| uncertainty as the HPO term just specifies palate in general but the eq uses secondary palate, calling these broad instead of exact due to this uncertainty HP:0010808 Protruding tongue skos:exactMatch 0.9 MP:0009908 protruding tongue semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-11-16 CHARGE model not Chd7| MP specifies 'beyond oral cavity' HPO ' beyond the alveolar ridges or teeth at rest' so I increased uncertainty HP:0012757 Abnormal neuron morphology skos:broadMatch 1 MP:0009937 abnormal neuron differentiation semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-01 Chd7 HP:0025057 Abnormality of olfactory lobe morphology skos:exactMatch 1 MP:0009944 abnormal olfactory lobe morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-01 Chd7 HP:0002334 Abnormal cerebellar vermis morphology skos:broadMatch 1 MP:0009957 abnormal cerebellum vermis lobule morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-01 Chd7 HP:0031422 Abnormal cerebellar cortex morphology skos:broadMatch 1 MP:0009959 abnormal cerebellar hemisphere morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-01 Chd7 HP:0031422 Abnormal cerebellar cortex morphology skos:broadMatch 1 MP:0009963 abnormal cerebellum hemisphere lobule morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-01 Chd7 HP:0031422 Abnormal cerebellar cortex morphology skos:broadMatch 1 MP:0009991 abnormal cerebellum vermis lobule IV morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-01 Chd7 HP:0031422 Abnormal cerebellar cortex morphology skos:broadMatch 1 MP:0013616 decreased volumetric bone mineral density semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-01 Chd7 HP:0031422 Abnormal cerebellar cortex morphology skos:broadMatch 1 MP:0009992 abnormal cerebellum vermis lobule IX morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-01 Chd7 HP:0031422 Abnormal cerebellar cortex morphology skos:broadMatch 1 MP:0009993 abnormal cerebellum vermis lobule V morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-01 Chd7 HP:0031422 Abnormal cerebellar cortex morphology skos:broadMatch 1 MP:0009996 abnormal cerebellum vermis lobule VIII morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-01 Chd7 HP:0031422 Abnormal cerebellar cortex morphology skos:relatedMatch 0.9 MP:0010005 abnormal lobule simplex morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-01 Chd7| this structure does not exist in humans so calling this related rather than broad HP:0041079 Decreased body fat percentage skos:relatedMatch 1 MP:0010025 decreased total body fat amount semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-01 Chd7 HP:0012754 CNS hypermyelination skos:narrowMatch 1 MP:0010050 hypermyelination semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-01 Chd7 HP:0030173 Peripheral hypermyelination skos:narrowMatch 1 MP:0010050 hypermyelination semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-01 Chd7 HP:0003690 Limb muscle weakness skos:relatedMatch 1 MP:0010053 decreased grip strength semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-01 Chd7 HP:0040326 Hypoplasia of the olfactory bulb skos:exactMatch 0.9 MP:0010059 olfactory bulb hypoplasia semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-01 Chd7|uncertainty and noise due to difference in definition and use of hypoplasia in the two ontologies, often used in HPO as synonymous with 'small' HP:0001877 Abnormal erythrocyte morphology skos:broadMatch 1 MP:0010068 decreased red blood cell distribution width semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-01 Chd7|HPO term has the child increased width but no term for decreased width HP:0002917 Hypomagnesemia skos:exactMatch 1 MP:0010093 decreased circulating magnesium level semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-01 Chd7 HP:0004370 Abnormality of temperature regulation skos:broadMatch 1 MP:0010165 abnormal response to stress-induced hyperthermia semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-01 Chd7 HP:0012638 Abnormal nervous system physiology skos:broadMatch 1 MP:0010205 abnormal oligodendrocyte apoptosis semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-01 Chd7 HP:0010979 Abnormality of lipoprotein cholesterol concentration skos:narrowMatch 1 MP:0010330 abnormal circulating lipoprotein level semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-01 Chd7 HP:0011555 Double inlet left ventricle skos:exactMatch 1 MP:0010433 double inlet heart left ventricle semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-01 Chd7 HP:0002624 Abnormal venous morphology skos:broadMatch 1 MP:0010453 abnormal coronary vein morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-01 Chd7 HP:0001660 Truncus arteriosus skos:narrowMatch 1 MP:0010454 abnormal truncus arteriosus septation semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-01 Chd7 HP:0011604 Aortopulmonary window skos:exactMatch 1 MP:0010455 aortopulmonary window semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-01 Chd7 HP:0012305 Coarctation of the descending aortic arch skos:narrowMatch 1 MP:0010526 aortic arch coarctation semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-01 Chd7 HP:0001713 Abnormal cardiac ventricle morphology skos:broadMatch 1 MP:0010556 thin ventricle myocardium compact layer semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-01 Chd7 HP:0006705 Abnormal atrioventricular valve morphology skos:broadMatch 1 MP:0010607 common atrioventricular valve semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-01 Chd7 HP:0000480 Retinal coloboma skos:exactMatch 0.9 MP:0010715 retina coloboma semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-01 CHARGE model not Chd7| uncertainty as MP specifies this is congential and the HPO does not HP:0002752 Sparse bone trabeculae skos:relatedMatch 0.8 MP:0010869 decreased bone trabecula number semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-01 Chd7| HPO term lacks a definition but eq uses PATO sparse - defined as 'scattered; spread irregularly, and at a distance from each other' so it seems to me that these are related but not close or exact HP:0030313 Abnormal periosteum morphology skos:broadMatch 1 MP:0010973 increased periosteum thickness semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-01 Chd7 HP:0003811 Neonatal lethal skos:relatedMatch 1 MP:0011089 perinatal lethality, complete penetrance semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-01 Chd7 HP:0034241 Prenatal death skos:relatedMatch 1 MP:0011092 embryonic lethality, complete penetrance semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-01 Chd7 HP:0034241 Prenatal death skos:relatedMatch 1 MP:0011098 embryonic lethality during organogenesis, complete penetrance semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-01 Chd7 HP:0034241 Prenatal death skos:relatedMatch 1 MP:0011099 lethality throughout fetal growth and development, complete penetrance semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-01 CHARGE model not Chd7 HP:0034241 Prenatal death skos:relatedMatch 1 MP:0011108 embryonic lethality during organogenesis, incomplete penetrance semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-01 Chd7 HP:0034241 Prenatal death skos:relatedMatch 1 MP:0011109 lethality throughout fetal growth and development, incomplete penetrance semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-01 Chd7 HP:0005105 Abnormal nasal morphology skos:broadMatch 1 MP:0011281 abnormal olfactory epithelium cilium morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-01 Chd7 HP:0034190 Abnormal fetal cardiovascular physiology skos:broadMatch 1 MP:0011390 abnormal fetal cardiomyocyte physiology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-01 Chd7 HP:0034190 Abnormal fetal cardiovascular physiology skos:broadMatch 1 MP:0011395 decreased fetal cardiomyocyte proliferation semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-01 Chd7 HP:0011420 Age of death skos:relatedMatch 1 MP:0011400 lethality, complete penetrance semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-01 Chd7 HP:0011613 Interrupted aortic arch type B skos:exactMatch 1 MP:0011659 interrupted aortic arch, type b semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-01 Chd7 HP:0012447 Abnormal myelination skos:broadMatch 1 MP:0011731 decreased myelin sheath thickness semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-01 Chd7 HP:0000240 Abnormality of skull size skos:broadMatch 1 MP:0011861 increased cranium height semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-01 Chd7 HP:0004463 Absent brainstem auditory responses skos:narrowMatch 1 MP:0011967 increased or absent threshold for auditory brainstem response semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-01 Chd7 HP:0012638 Abnormal nervous system physiology skos:broadMatch 1 MP:0012020 abnormal olfactory epithelium physiology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-01 Chd7 HP:0012757 Abnormal neuron morphology skos:broadMatch 1 MP:0012203 abnormal neuronal stem cell morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-01 Chd7 HP:0031422 Abnormal cerebellar cortex morphology skos:broadMatch 1 MP:0012451 abnormal retrosplenial granular cortex morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-01 Chd7 HP:0012502 Abnormality of the internal capsule skos:broadMatch 1 MP:0012462 decreased brain internal capsule size semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-01 Chd7 HP:0010662 Abnormality of the diencephalon skos:broadMatch 1 MP:0012481 increased habenula size semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-01 Chd7 HP:0045005 Neural tube defect skos:broadMatch 1 MP:0012703 decreased embryonic neuroepithelium thickness semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-05 Chd7 HP:0430021 Abnormal common carotid artery morphology skos:exactMatch 1 MP:0012729 abnormal common carotid artery morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-05 Chd7 HP:0033334 Abnormal embryonic development skos:broadMatch 1 MP:0012741 decreased neural crest cell proliferation semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-05 CHARGE model not Chd7 HP:0033334 Abnormal embryonic development skos:broadMatch 1 MP:0012744 increased neural crest cell apoptosis semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-05 CHARGE model not Chd7 HP:0011747 Abnormality of the anterior pituitary skos:broadMatch 1 MP:0013350 Rathke's pouch hypoplasia semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-05 Chd7 HP:0003429 CNS hypomyelination skos:narrowMatch 1 MP:0013438 dysmyelination semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-05 Chd7 HP:0007182 Peripheral hypomyelination skos:narrowMatch 1 MP:0013438 dysmyelination semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-05 HP:0001097 Keratoconjunctivitis sicca skos:exactMatch 0.8 MP:0013466 keratoconjunctivitis sicca semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-11-16 Chd7| uncertainty as the MP term is defined as inflamation caused by eye dryness which, in turn, is caused by either decreased tear production or increased tear film evaporation while the HPO term is defined as eye dryness with no mention of inflammation, but is a child of inflammation term HP:0031066 Abnormal ovarian physiology skos:broadMatch 1 MP:0013508 increased granulosa cell apoptosis semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-05 Chd7 HP:0003103 Abnormal cortical bone morphology skos:broadMatch 1 MP:0013624 decreased femur compact bone thickness semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-05 Chd7 HP:0100671 Abnormal trabecular bone morphology skos:broadMatch 1 MP:0013630 increased bone trabecular spacing semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-05 Chd7 HP:0000174 Abnormal palate morphology skos:broadMatch 1 MP:0013767 decreased palatal rugae number semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-05 Chd7 HP:0012372 Abnormal eye morphology skos:broadMatch 1 MP:0013820 absent optic cup semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-05 Chd7 HP:0041079 Decreased body fat percentage skos:relatedMatch 1 MP:0014143 decreased body fat mass semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-05 Chd7 HP:0004349 Reduced bone mineral density skos:broadMatch 1 MP:0020010 decreased bone mineral density of femur semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-05 CHARGE model not Chd7 HP:0004349 Reduced bone mineral density skos:relatedMatch 1 MP:0020137 decreased bone mineralization semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-05 Chd7 HP:0012757 Abnormal neuron morphology skos:broadMatch 1 MP:0020348 decreased olfactory sensory neuron number semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-05 Chd7 HP:0008609 Morphological abnormality of the middle ear skos:broadMatch 1 MP:0020900 abnormal middle ear epithelium morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-05 Chd7 HP:0008609 Morphological abnormality of the middle ear skos:broadMatch 1 MP:0020903 increased middle ear goblet cell number semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-05 Chd7 HP:0004349 Reduced bone mineral density skos:broadMatch 1 MP:0021184 decreased bone mineral density of humerus semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-05 CHARGE model not Chd7 HP:0005561 Abnormality of bone marrow cell morphology skos:broadMatch 1 MP:0030009 increased bone marrow adipose tissue amount semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-05 Chd7 HP:0000321 Square face skos:exactMatch 1 MP:0030073 square face semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-05 CHARGE model not Chd7 HP:0001367 Abnormal joint morphology skos:broadMatch 1 MP:0030109 abnormal incudomalleolar joint morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-05 Chd7 HP:0008628 Abnormality of the stapes skos:broadMatch 1 MP:0030127 small stapes semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-05 Chd7 HP:0011453 Abnormality of the incus skos:broadMatch 1 MP:0030394 abnormal incus short process morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-05 Chd7 HP:0011453 Abnormality of the incus skos:broadMatch 1 MP:0030396 abnormal incus long process morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-05 Chd7 HP:0008628 Abnormality of the stapes skos:broadMatch 1 MP:0030402 abnormal stapes head morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-05 Chd7 HP:0008628 Abnormality of the stapes skos:broadMatch 1 MP:0030405 small stapes obturator foramen semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-05 Chd7 HP:0008628 Abnormality of the stapes skos:broadMatch 1 MP:0030407 abnormal stapes crus morpholgy semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-05 Chd7 HP:0040099 Abnormality of the round window skos:broadMatch 1 MP:0030411 decreased round window size semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-05 Chd7 HP:0011912 Abnormality of the glenoid fossa skos:exactMatch 0.9 MP:0030831 abnormal glenoid fossa morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-06 Chd7| uncertainty since the term label and definition do not specify 'morphology' but placement is on the morphology branch HP:0010948 Abnormal fetal cardiovascular morphology skos:broadMatch 1 MP:0030992 atrioventricular cushion hypoplasia semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-06 Chd7 HP:0031065 Abnormal ovarian morphology skos:broadMatch 0.8 MP:0031239 increased atretic ovarian follicle number semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-06 Chd7| the only ovarian follicle number terms in HPO are for antral follicles and are under physiology, MP puts these under morphology and has many more count terms. I've chosen the morphology term in HPO in keeping with the MP placement HP:0003307 Hyperlordosis skos:narrowMatch 0.9 MP:0031253 lordokyphosis semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-06 CHARGE model not Chd7| some uncertainty as the definition in MP does not specify spinal location while the HP definition does HP:0002808 Kyphosis skos:narrowMatch 0.9 MP:0031253 lordokyphosis semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-06 CHARGE model not Chd7| some uncertainty as the definition in MP does not specify spinal location while the HP definition does HP:0031065 Abnormal ovarian morphology skos:broadMatch 0.8 MP:0031381 decreased secondary ovarian follicle number semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-06 Chd7| the only ovarian follicle number terms in HPO are for antral follicles and are under physiology, MP puts these under morphology and has many more count terms. I've chosen the morphology term in HPO in keeping with the MP placement HP:0000752 Hyperactivity skos:broadMatch 1 MP:0031391 increased locomotor activity semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-06 Chd7 HP:0000394 Lop ear skos:narrowMatch 1 MP:0000022 abnormal ear shape semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-18 CHARGE HP:0011381 Aplasia of the semicircular canal skos:exactMatch 1 MP:0000036 absent semicircular canals semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-01 CHARGE HP:0000772 Abnormal rib morphology skos:exactMatch 1 MP:0000150 abnormal rib morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-18 CHARGE | note the HPO definition is broader 'An anomaly of the rib' than just morphology but based on placement I'm calling these exact HP:0002623 Overriding aorta skos:exactMatch 1 MP:0000273 overriding aortic valve semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-19 CHARGE HP:0000160 Narrow mouth skos:narrowMatch 1 MP:0000452 abnormal mouth morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-17 CHARGE | MP ticket 3790 HP:0003974 Absent radius skos:exactMatch 0.9 MP:0000553 absent radius semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-19 CHARGE| the MP term is somewhat ambiguous in definition, typically we mean absent as total absence which would be closer to the HPO term Bilateral radial aplasia but the MP does not have a term for decreased radius number and there is at least one case where unilateral absence has been annotated to the absent term HP:0002992 Abnormality of tibia morphology skos:exactMatch 1 MP:0000558 abnormal tibia morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-19 CHARGE HP:0010443 Bifid femur skos:narrowMatch 1 MP:0000559 abnormal femur morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-19 CHARGE HP:0001018 Abnormal palmar dermatoglyphics skos:narrowMatch 1 MP:0000572 abnormal autopod morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-18 CHARGE HP:0000834 Abnormality of the adrenal glands skos:broadMatch 1 MP:0000639 abnormal adrenal gland morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-18 CHARGE HP:0010515 Aplasia/Hypoplasia of the thymus skos:broadMatch 1 MP:0000705 athymia semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-20 CHARGE HP:0001305 Dandy-Walker malformation skos:narrowMatch 0.9 MP:0000849 abnormal cerebellum morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-19 CHARGE | some uncertainty since the malformation involves more than just the cerebellum but the HPO definition and placement indicate the cerebellum cyst is the key part HP:0001291 Abnormal cranial nerve morphology skos:exactMatch 1 MP:0001056 abnormal cranial nerve morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-19 CHARGE HP:0000625 Eyelid coloboma skos:narrowMatch 1 MP:0001340 abnormal eyelid morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-18 CHARGE HP:0011968 Feeding difficulties skos:narrowMatch 0.9 MP:0001431 abnormal eating behavior semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-01 CHARGE| the MP has this under behavior while the HPO term is under digestive system/abdominal symptoms suggesting there may be some difference in the intent of these terms HP:0010978 Abnormality of immune system physiology skos:exactMatch 1 MP:0001790 abnormal immune system physiology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-01 CHARGE HP:0010515 Aplasia/Hypoplasia of the thymus skos:broadMatch 1 MP:0001823 thymus hypoplasia semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-20 CHARGE HP:0002093 Respiratory insufficiency skos:narrowMatch 1 MP:0001943 abnormal respiration semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-19 CHARGE | HPO term lacks a text definition based on child terms I went up to abnormal respiration to cover all children; MP ticket 3794 HP:0000504 Abnormality of vision skos:exactMatch 1 MP:0002090 abnormal vision semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-18 CHARGE | MP ticket 3791 HP:0008572 External ear malformation skos:narrowMatch 1 MP:0002177 abnormal outer ear morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-19 CHARGE HP:0011382 Hypoplasia of the semicircular canal skos:narrowMatch 1 MP:0002428 abnormal semicircular canal morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-01 CHARGE HP:0000742 Self-mutilation skos:narrowMatch 1 MP:0002572 abnormal emotion/affect behavior semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-18 CHARGE | mapping based on parents of HPO term HP:0000347 Micrognathia skos:narrowMatch 1 MP:0002639 micrognathia semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-18 CHARGE | MP def 'abnormally reduced size of the jaws, especially of the mandible' HPO term is defined as 'Developmental hypoplasia of the mandible' thus despite sharing the same label the MP term is broader than the HPO term HP:0009556 Absent tibia skos:exactMatch 1 MP:0002728 absent tibia semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-19 CHARGE HP:0000834 Abnormality of the adrenal glands skos:broadMatch 1 MP:0002909 abnormal adrenal gland physiology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-18 CHARGE HP:0002410 Aqueductal stenosis skos:exactMatch 1 MP:0002958 cerebral aqueductal stenosis semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-19 CHARGE HP:0003241 External genital hypoplasia skos:relatedMatch 1 MP:0003126 abnormal external female genitalia morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-19 HP:0100736 Abnormal soft palate morphology skos:exactMatch 0.9 MP:0003154 abnormal soft palate morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-01 CHARGE| presence of the child term 'Velopharyngeal insufficiency' causes some uncertainty as this seems more like a physiology term HP:0011382 Hypoplasia of the semicircular canal skos:broadMatch 1 MP:0003162 decreased lateral semicircular canal size semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-01 CHARGE HP:0011382 Hypoplasia of the semicircular canal skos:broadMatch 1 MP:0003164 decreased posterior semicircular canal size semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-01 CHARGE HP:0011382 Hypoplasia of the semicircular canal skos:broadMatch 1 MP:0003166 decreased superior semicircular canal size semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-01 CHARGE HP:0002139 Arrhinencephaly skos:narrowMatch 1 MP:0003232 abnormal forebrain development semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-19 CHARGE | HPO term lacks definition, based on Googling the definition seems to be the absence of the olfactory bulbs and tracts, this would suggest this should not be a child of anencephaly - HPO ticket 9918 HP:0000830 Anterior hypopituitarism skos:exactMatch 0.9 MP:0003348 hypopituitarism semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-18 CHARGE | MP defines this reduction or cessation of secretion of one or more hormones from the anterior pituitary gland HPO defines this as 'condition of reduced function of the anterior pituitary gland characterized by decreased secretion of one or more of the pituitary hormones' Note HPO has a separate term for hypopituitarism that has anterior hypo.. as a child but this term is a child of Abnormality of the anterior pituitary and lacks a definition so I'm not sure what the distinction between the two HPO terms. This is another case where the MP has this under physiology and HPO has it under morphology, hence the uncertainty HP:0008213 Gonadotropin deficiency skos:narrowMatch 1 MP:0003348 hypopituitarism semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-19 CHARGE HP:0008213 Gonadotropin deficiency skos:relatedMatch 1 MP:0003363 decreased circulating gonadotropin level semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-19 CHARGE | the HPO term is defined in terms of secretion thus the MP term about level is related since lowered secretion could cause the lower level HP:0000829 Hypoparathyroidism skos:closeMatch 0.9 MP:0003433 decreased activity of parathyroid semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-11-16 CHARGE | MP defines this as reduced function of the parathyroid gland, HPO defines this as deficiency of parathyroid hormone; there is potential for distinction but I think these are very close HP:0002139 Arrhinencephaly skos:relatedMatch 1 MP:0003451 absent olfactory bulb semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-19 CHARGE HP:0000860 Parathyroid hypoplasia skos:exactMatch 1 MP:0003494 parathyroid hypoplasia semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-18 CHARGE HP:0000066 Labial hypoplasia skos:narrowMatch 0.9 MP:0003513 small labia semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-11-16 CHARGE HP:0009906 Aplasia/Hypoplasia of the earlobes skos:broadMatch 1 MP:0003678 absent ear lobes semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-19 CHARGE HP:0009906 Aplasia/Hypoplasia of the earlobes skos:broadMatch 1 MP:0003679 ear lobe hypoplasia semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-19 CHARGE HP:0004058 Hand monodactyly skos:narrowMatch 1 MP:0003800 monodactyly semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-19 CHARGE HP:0001561 Polyhydramnios skos:exactMatch 1 MP:0004020 polyhydramnios semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-19 CHARGE HP:0001360 Holoprosencephaly skos:exactMatch 1 MP:0005157 holoprosencephaly semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-19 CHARGE HP:0000567 Chorioretinal coloboma skos:narrowMatch 1 MP:0005262 coloboma semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-18 CHARGE HP:0000589 Coloboma skos:exactMatch 1 MP:0005262 coloboma semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-18 CHARGE HP:0000272 Malar flattening skos:narrowMatch 1 MP:0005270 abnormal zygomatic bone morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-17 CHARGE HP:0000478 Abnormality of the eye skos:narrowMatch 1 MP:0005391 vision/eye phenotype semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-18 CHARGE | the MP term is also used for unexpected 'normal' eye phenotypes HP:0000044 Hypogonadotropic hypogonadism skos:narrowMatch 1 MP:0005647 abnormal sex gland physiology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-17 CHARGE | MP ticket 3778 HP:0001671 Abnormal cardiac septum morphology skos:exactMatch 1 MP:0006113 abnormal heart septum morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-19 CHARGE| add synonym, note MP has a child term for aorticopulmonary septum that by the text definition seems like it might not fit but based on the UBERON terms is considered a cardiac septum, both MP and HP use caridac septum in the EQ HP:0000410 Mixed hearing impairment skos:exactMatch 1 MP:0006327 mixed hearing impairment semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-18 CHARGE | probably worth reviewing the hearing loss annotations as I suspect we may have annotations made to both sensineural and conductive rahter than to mixed HP:0002025 Anal stenosis skos:exactMatch 1 MP:0009052 anal stenosis semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-19 CHARGE HP:0003241 External genital hypoplasia skos:broadMatch 1 MP:0009203 external male genitalia hypoplasia semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-19 CHARGE HP:0000008 Abnormal morphology of female internal genitalia skos:exactMatch 1 MP:0009209 abnormal internal female genitalia morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-17 CHARGE HP:0004935 Pulmonary artery atresia skos:broadMatch 1 MP:0010521 absent pulmonary artery semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-11-16 CHARGE HP:0005113 Aortic arch aneurysm skos:narrowMatch 1 MP:0010575 aortic arch dilation semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-19 CHARGE HP:0030732 Dysplastic tricuspid valve skos:narrowMatch 1 MP:0002624 abnormal tricuspid valve morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-01 CHARGE| the HPO term is defined as A congenital malformation of the tricuspid valve characterized by leaflet deformation and the MP cusp term has 'leaflet' as a synonym. But the HPO term has a long note that specifies the different types of dysplasia some that involve more than the leaflets so I've backed this off to the parent MP term of tricuspid valve HP:0000612 Iris coloboma skos:exactMatch 1 MP:0010714 iris coloboma semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-18 CHARGE HP:0000480 Retinal coloboma skos:exactMatch 1 MP:0010715 retina coloboma semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-18 CHARGE HP:0009778 Short thumb skos:narrowMatch 1 MP:0010772 abnormal pollex morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-19 CHARGE HP:0000632 Lacrimation abnormality skos:exactMatch 1 MP:0020218 abnormal tear production semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-18 CHARGE HP:0001270 Motor delay skos:narrowMatch 1 MP:0021165 behavioral developmental delay semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-18 CHARGE | MP ticket 3792 HP:0005280 Depressed nasal bridge skos:exactMatch 1 MP:0030034 depressed nasal bridge semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-19 CHARGE HP:0000275 Narrow face skos:narrowMatch 1 MP:0030071 abnormal face shape semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-18 CHARGE HP:0000321 Square face skos:exactMatch 1 MP:0030073 square face semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-18 CHARGE HP:0010669 Hypoplasia of the zygomatic bone skos:exactMatch 1 MP:0030112 zygomatic bone hypoplasia semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-20 CHARGE HP:0010628 Facial palsy skos:relatedMatch 1 MP:0030141 facial paralysis semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-20 CHARGE HP:0010751 Dimple chin skos:narrowMatch 1 MP:0030243 abnormal chin morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-01 CHARGE HP:0200021 Down-sloping shoulders skos:relatedMatch 1 MP:0030816 abnormal shoulder joint morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-01 CHARGE HP:0003048 Radial head subluxation skos:narrowMatch 1 MP:0030882 abnormal radius head morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-19 CHARGE HP:0003022 Hypoplasia of the ulna skos:narrowMatch 1 MP:0030900 decreased ulna size semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-11-16 CHARGE HP:0000144 Decreased fertility skos:exactMatch 1 MP:0001921 reduced fertility semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-10-13 Down Syndrome| Orpha HP:0000160 Narrow mouth skos:narrowMatch 1 MP:0009880 decreased mouth size semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-10-13 Down Syndrome| Orpha HP:0000164 Abnormality of the dentition skos:broadMatch 0.9 MP:0002100 abnormal tooth morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-11-16 Down Syndrome| Orpha, HPO definition does not limit this to morphology although it is on the morphology branch HP:0000179 Thick lower lip vermilion skos:narrowMatch 1 MP:0003774 thick lip semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-10-13 Down Syndrome| Orpha HP:0000189 Narrow palate skos:exactMatch 1 MP:0003758 narrow palate semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-10-13 Down Syndrome| Orpha HP:0000194 Open mouth skos:exactMatch 1 MP:0031502 open mouth semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-10-13 Down Syndrome| Orpha HP:0000235 Abnormality of the fontanelles or cranial sutures skos:broadMatch 1 MP:0000084 abnormal fontanelle morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-10-13 Down Syndrome| Orpha HP:0000235 Abnormality of the fontanelles or cranial sutures skos:broadMatch 1 MP:0002835 abnormal cranial suture morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-10-13 Down Syndrome| Orpha HP:0000248 Brachycephaly skos:exactMatch 1 MP:0000435 shortened head semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-10-13 Down Syndrome| Orpha, OMIM HP:0000272 Malar flattening skos:narrowMatch 1 MP:0005270 abnormal zygomatic bone morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-10-13 Down Syndrome| OMIM HP:0000457 Depressed nasal ridge skos:narrowMatch 1 MP:0030033 abnormal nasal bridge morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-10-13 Down Syndrome| Orpha HP:0000474 Thickened nuchal skin fold skos:narrowMatch 1 MP:0012723 abnormal nuchal region morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-10-13 Down Syndrome| Orpha, OMIM HP:0000518 Cataract skos:exactMatch 1 MP:0001304 cataract semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-10-13 Down Syndrome| Orpha HP:0000545 Myopia skos:exactMatch 1 MP:0003100 myopia semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-10-13 Down Syndrome| Orpha HP:0000691 Microdontia skos:exactMatch 1 MP:0030088 microdontia semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-10-13 Down Syndrome| Orpha HP:0000954 Single transverse palmar crease skos:narrowMatch 1 MP:0000572 abnormal autopod morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-10-13 Down Syndrome| OMIM HP:0001088 Brushfield spots skos:narrowMatch 1 MP:0005102 abnormal iris pigmentation semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-10-13 Down Syndrome| OMIM HP:0001156 Brachydactyly skos:exactMatch 1 MP:0002544 brachydactyly semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-10-13 Down Syndrome| Orpha, OMIM HP:0001169 Broad palm skos:narrowMatch 1 MP:0020242 increased autopod size semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-10-13 Down Syndrome| OMIM HP:0001249 Intellectual disability skos:narrowMatch 1 MP:0014114 abnormal cognition semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-10-19 Down Syndrome| Orpha, OMIM HP:0001513 Obesity skos:narrowMatch 1 MP:0001261 obese semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-11-16 Down Syndrome| Orpha| HPO term specifies 'Accumulation of substantial excess body fat' the MP states 'body weight that is grossly above the average..usually due to accumulation of excess fat tissue' thus these as defined are not exact but I think the intent and in practice these should be very close HP:0001674 Complete atrioventricular canal defect skos:exactMatch 0.9 MP:0010413 complete atrioventricular septal defect semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-10-19 Down Syndrome| OMIM HP:0001852 Sandal gap skos:narrowMatch 1 MP:0002110 abnormal digit morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-10-19 Down Syndrome| Orpha, OMIM HP:0002251 Aganglionic megacolon skos:exactMatch 1 MP:0002926 aganglionic megacolon semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-10-23 Down Syndrome| Orpha, OMIM HP:0002376 Developmental regression skos:narrowMatch 1 MP:0004924 abnormal behavior semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-10-23 Down Syndrome| Orpha HP:0002511 Alzheimer disease skos:relatedMatch 1 MP:0012508 forebrain atrophy semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-10-23 Down Syndrome| OMIM HP:0002511 Alzheimer disease skos:relatedMatch 1 MP:0003329 amyloid beta deposits semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-10-23 Down Syndrome| OMIM HP:0002511 Alzheimer disease skos:relatedMatch 1 MP:0003214 neurofibrillary tangles semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-10-23 Down Syndrome| OMIM HP:0002714 Downturned corners of mouth skos:exactMatch 1 MP:0003749 down-turned corners of mouth semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-10-23 Down Syndrome| Orpha HP:0002866 Hypoplastic iliac wing skos:narrowMatch 1 MP:0030852 abnormal ilium wing morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-10-23 Down Syndrome| OMIM HP:0003182 Shallow acetabular fossae skos:narrowMatch 1 MP:0030830 abnormal acetabulum morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-10-23 Down Syndrome| OMIM HP:0003196 Short nose skos:relatedMatch 1 MP:0000445 short snout semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-10-23 Down Syndrome| Orpha HP:0003467 Atlantoaxial instability skos:narrowMatch 1 MP:0003048 abnormal cervical vertebrae morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-10-23 Down Syndrome| OMIM HP:0004220 Short middle phalanx of the 5th finger skos:narrowMatch 1 MP:0002544 brachydactyly semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-10-23 Down Syndrome| OMIM HP:0004279 Short palm skos:narrowMatch 1 MP:0014291 decreased autopod size semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-10-23 Down Syndrome| OMIM HP:0004415 Pulmonary artery stenosis skos:exactMatch 1 MP:0010457 pulmonary artery stenosis semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-10-23 Down Syndrome| OMIM HP:0005280 Depressed nasal bridge skos:exactMatch 1 MP:0030034 depressed nasal bridge semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-10-23 Down Syndrome|Orpha HP:0005547 Myeloproliferative disorder skos:relatedMatch 1 MP:0010373 myeloid hyperplasia semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-10-23 Down Syndrome| OMIM HP:0005978 Type II diabetes mellitus skos:relatedMatch 1 MP:0005331 insulin resistance semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-10-23 Down Syndrome| Orpha HP:0005978 Type II diabetes mellitus skos:relatedMatch 1 MP:0002079 increased circulating insulin level semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-10-23 Down Syndrome| Orpha HP:0005989 Redundant neck skin skos:narrowMatch 1 MP:0030528 abnormal neck skin morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-10-23 Down Syndrome| OMIM HP:0006695 Atrioventricular canal defect skos:exactMatch 1 MP:0010412 atrioventricular septal defect semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-10-23 Down Syndrome| OMIM HP:0006733 Acute megakaryocytic leukemia skos:relatedMatch 1 MP:0002026 increased leukemia incidence semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-10-23 Down Syndrome| Orpha, OMIM HP:0007328 Impaired pain sensation skos:exactMatch 0.9 MP:0003043 hypoalgesia semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-11-16 Down Syndrome| Orpha HP:0007495 Prematurely aged appearance skos:narrowMatch 1 MP:0003786 premature aging semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-10-23 Down Syndrome| Orpha HP:0007598 Bilateral single transverse palmar creases skos:narrowMatch 1 MP:0000572 abnormal autopod morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-10-23 Down Syndrome| Orpha HP:0008070 Sparse hair skos:exactMatch 1 MP:0000416 sparse hair semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-10-23 Down Syndrome| Orpha HP:0008678 Renal hypoplasia/aplasia skos:broadMatch 1 MP:0003446 renal hypoplasia semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-10-23 Down Syndrome| Orpha HP:0008678 Renal hypoplasia/aplasia skos:broadMatch 1 MP:0003604 single kidney semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-10-23 Down Syndrome| Orpha HP:0008678 Renal hypoplasia/aplasia skos:broadMatch 1 MP:0000520 absent kidney semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-10-23 Down Syndrome| Orpha HP:0010316 Ebstein anomaly of the tricuspid valve skos:exactMatch 1 MP:0010536 Ebstein's malformation of tricuspid valve semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-10-23 Down Syndrome| OMIM HP:0010978 Abnormality of immune system physiology skos:exactMatch 1 MP:0001790 abnormal immune system physiology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-10-23 Down Syndrome| Orpha HP:0012368 Flat face skos:exactMatch 1 MP:0012175 flat face semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-10-23 Down Syndrome| Orpha, OMIM HP:0025656 Prenatal double bubble sign skos:relatedMatch 1 MP:0011881 distended duodenum semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-10-23 Down Syndrome| OMIM HP:0025705 Abnormal fetal nasal bone visualization skos:relatedMatch 1 MP:0000102 abnormal nasal bone morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-10-23 Down Syndrome| OMIM HP:0030084 Clinodactyly skos:exactMatch 1 MP:0006253 clinodactyly semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-10-23 Down Syndrome| OMIM HP:0030680 Abnormality of cardiovascular system morphology skos:exactMatch 1 MP:0002127 abnormal cardiovascular system morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-10-23 Down Syndrome| Orpha HP:0100763 Abnormality of the lymphatic system skos:broadMatch 1 MP:0010368 abnormal lymphatic system physiology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-10-23 Down Syndrome| Orpha HP:0100763 Abnormality of the lymphatic system skos:broadMatch 1 MP:0001879 abnormal lymphatic vessel morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-10-23 Down Syndrome| Orpha HP:0100830 Round ear skos:narrowMatch 1 MP:0000022 abnormal ear shape semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-10-23 Down Syndrome| Orpha HP:0100867 Duodenal stenosis skos:narrowMatch 1 MP:0003271 abnormal duodenum morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-10-23 Down Syndrome| OMIM HP:0001640 Cardiomegaly skos:exactMatch 1 MP:0000274 enlarged heart semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-26 Down Syndrome HP:0001697 Abnormal pericardium morphology skos:broadMatch 1 MP:0000291 enlarged pericardium semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-26 Down Syndrome HP:0030681 Abnormal morphology of myocardial trabeculae skos:broadMatch 1 MP:0000295 trabecula carnea hypoplasia semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-26 Down Syndrome HP:0006695 Atrioventricular canal defect skos:relatedMatch 1 MP:0000299 failure of atrioventricular cushion closure semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-26 Down Syndrome HP:0011805 Abnormal skeletal muscle morphology skos:exactMatch 1 MP:0000759 abnormal skeletal muscle morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-26 Down Syndrome HP:0006891 Thick cerebral cortex skos:exactMatch 0.9 MP:0000789 thickened cerebral cortex semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-26 Down Syndrome| mapping based on placement, EQ, and label as HPO term lacks definition HP:0025100 Abnormal hippocampus morphology skos:broadMatch 1 MP:0000812 abnormal dentate gyrus morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-28 Down Syndrome HP:0030047 Abnormal lateral ventricle morphology skos:exactMatch 1 MP:0000823 abnormal lateral ventricle morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-28 Down Syndrome HP:0010951 Abnormal third ventricle morphology skos:exactMatch 1 MP:0000826 abnormal third ventricle morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-28 Down Syndrome HP:0010663 Abnormality of thalamus morphology skos:exactMatch 1 MP:0000832 abnormal thalamus morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-28 Down Syndrome HP:0002538 Abnormal cerebral cortex morphology skos:broadMatch 1 MP:0000859 abnormal somatosensory cortex morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-28 Down Syndrome HP:0010953 Noncommunicating hydrocephalus skos:exactMatch 1 MP:0000917 obstructive hydrocephaly semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-28 Down Syndrome HP:0010824 Abnormal fifth cranial nerve morphology skos:exactMatch 1 MP:0001065 abnormal trigeminal nerve morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-28 Down Syndrome HP:0031038 Spermatogenesis maturation arrest skos:exactMatch 0.9 MP:0001155 arrest of spermatogenesis semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-11-16 Down Syndrome HP:0008669 Abnormal spermatogenesis skos:exactMatch 1 MP:0001156 abnormal spermatogenesis semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-29 Down Syndrome HP:0004324 Increased body weight skos:exactMatch 1 MP:0001260 increased body weight semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-29 Down Syndrome HP:0100852 Abnormal fear/anxiety-related behavior skos:broadMatch 1 MP:0001364 decreased anxiety-related response semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-29 Down Syndrome HP:0100022 Abnormality of movement skos:broadMatch 1 MP:0001392 abnormal locomotor behavior semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-29 Down Syndrome HP:0000733 Abnormal repetitive mannerisms skos:relatedMatch 1 MP:0001409 increased stereotypic behavior semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-29 Down Syndrome HP:0012433 Abnormal social behavior skos:broadMatch 1 MP:0001447 abnormal nest building behavior semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-29 Down Syndrome HP:0002354 Memory impairment skos:relatedMatch 1 MP:0001458 abnormal object recognition memory semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-29 Down Syndrome HP:0001328 Specific learning disability skos:relatedMatch 1 MP:0001463 abnormal spatial learning semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-29 Down Syndrome HP:0012535 Abnormal synaptic transmission skos:broadMatch 1 MP:0001473 reduced long-term potentiation semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-29 Down Syndrome HP:0012535 Abnormal synaptic transmission skos:broadMatch 1 MP:0001475 reduced long-term depression semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-29 Down Syndrome HP:0004325 Decreased body weight skos:relatedMatch 1 MP:0001698 decreased embryo size semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-29 Down Syndrome HP:0011733 Abnormality of adrenal physiology skos:broadMatch 1 MP:0001739 abnormal adrenal gland secretion semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-29 Down Syndrome HP:0012535 Abnormal synaptic transmission skos:broadMatch 1 MP:0001898 abnormal long-term depression semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-29 Down Syndrome HP:0012638 Abnormal nervous system physiology skos:broadMatch 1 MP:0001900 impaired synaptic plasticity semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-29 Down Syndrome HP:0003251 Male infertility skos:exactMatch 0.9 MP:0001925 male infertility semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-29 Down Syndrome| uncertainty as the HPO terms lacks a definition HP:0002664 Neoplasm skos:exactMatch 1 MP:0002006 neoplasm semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-29 Down Syndrome HP:0002664 Neoplasm skos:broadMatch 1 MP:0002018 increased malignant tumor incidence semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-29 Down Syndrome HP:0011446 Abnormality of higher mental function skos:relatedMatch 1 MP:0002063 abnormal learning/memory/conditioning semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-29 Down Syndrome HP:0001328 Specific learning disability skos:relatedMatch 1 MP:0002063 abnormal learning/memory/conditioning semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-29 Down Syndrome HP:0012443 Abnormality of brain morphology skos:broadMatch 1 MP:0002176 increased brain weight semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-29 Down Syndrome HP:0001311 Abnormal nervous system electrophysiology skos:exactMatch 1 MP:0002272 abnormal nervous system electrophysiology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-29 Down Syndrome HP:0025408 Abnormal spleen morphology skos:broadMatch 1 MP:0002356 abnormal spleen red pulp morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-29 Down Syndrome HP:0005561 Abnormality of bone marrow cell morphology skos:broadMatch 1 MP:0002413 abnormal megakaryocyte progenitor cell morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-29 Down Syndrome HP:0000752 Hyperactivity skos:broadMatch 1 MP:0002574 increased vertical activity semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-29 Down Syndrome HP:0012206 Abnormal sperm motility skos:broadMatch 1 MP:0002675 asthenozoospermia semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-29 Down Syndrome| HP term is defined as any abnormality but all children are decreased motility so I rated the similarity fairly high, eq also used quality in general not any sort of decreased quality HP:0000798 Oligozoospermia skos:exactMatch 0.9 MP:0002687 oligozoospermia semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-29 Down Syndrome| possibly this could be close as the HP term includes in the definition specific sperm counts but child terms are present that don't fit with the count in the definition so I'm assuming that is the typical range but not an essential part of the definition HP:0000708 Atypical behavior skos:broadMatch 1 MP:0002757 decreased vertical activity semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-29 Down Syndrome HP:0040171 Decreased serum testosterone concentration skos:exactMatch 0.9 MP:0002780 decreased circulating testosterone level semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-29 Down Syndrome| HP term lacks text definition but eq uses blood not serum and MP has serum as a synonym so I think these are exact HP:0000035 Abnormal testis morphology skos:broadMatch 1 MP:0002784 abnormal Sertoli cell morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-29 Down Syndrome| may need to revise after HPO ticket is reviewed HP:0000739 Anxiety skos:relatedMatch 1 MP:0002797 increased thigmotaxis semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-29 Down Syndrome HP:0002354 Memory impairment skos:relatedMatch 1 MP:0002800 abnormal short-term object recognition memory semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-29 Down Syndrome HP:0012757 Abnormal neuron morphology skos:exactMatch 1 MP:0002882 abnormal neuron morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-29 Down Syndrome HP:0002251 Aganglionic megacolon skos:exactMatch 1 MP:0002926 aganglionic megacolon semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-29 Down Syndrome HP:0012535 Abnormal synaptic transmission skos:broadMatch 1 MP:0003008 enhanced long-term potentiation semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-29 Down Syndrome HP:0025015 Abnormal vascular morphology skos:broadMatch 1 MP:0003229 abnormal vitelline vasculature morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-29 Down Syndrome HP:0025100 Abnormal hippocampus morphology skos:broadMatch 1 MP:0003240 loss of hippocampal neurons semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-29 Down Syndrome HP:0002374 Diminished movement skos:relatedMatch 1 MP:0003313 abnormal locomotor activation semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-29 Down Syndrome HP:0002664 Neoplasm skos:broadMatch 1 MP:0003447 decreased tumor growth/size semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-29 Down Syndrome HP:0100851 Abnormal emotion/affect behavior skos:broadMatch 1 MP:0003461 abnormal response to novel object semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-29 Down Syndrome HP:0012639 Abnormal nervous system morphology skos:broadMatch 1 MP:0003861 abnormal nervous system development semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-29 Down Syndrome HP:0000733 Abnormal repetitive mannerisms skos:relatedMatch 1 MP:0003908 decreased stereotypic behavior semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-29 Down Syndrome HP:0003117 Abnormal circulating hormone concentration skos:narrowMatch 1 MP:0003953 abnormal hormone level semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-29 Down Syndrome HP:0012535 Abnormal synaptic transmission skos:broadMatch 1 MP:0004008 abnormal GABA-mediated receptor currents semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-29 Down Syndrome HP:0031422 Abnormal cerebellar cortex morphology skos:broadMatch 1 MP:0004098 abnormal cerebellar granule cell morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-29 Down Syndrome HP:0005557 Abnormal zygomatic arch morphology skos:exactMatch 1 MP:0004469 abnormal zygomatic arch morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-29 Down Syndrome HP:0012535 Abnormal synaptic transmission skos:broadMatch 1 MP:0004807 abnormal paired-pulse inhibition semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-29 Down Syndrome HP:0001871 Abnormality of blood and blood-forming tissues skos:broadMatch 1 MP:0004809 increased hematopoietic stem cell number semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-29 Down Syndrome HP:0003712 Skeletal muscle hypertrophy skos:narrowMatch 1 MP:0004818 increased skeletal muscle mass semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-10-02 Down Syndrome HP:0012638 Abnormal nervous system physiology skos:broadMatch 1 MP:0004948 abnormal neuronal precursor proliferation semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-10-02 Down Syndrome HP:0012639 Abnormal nervous system morphology skos:broadMatch 1 MP:0004996 abnormal CNS synapse formation semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-10-02 Down Syndrome HP:0012443 Abnormality of brain morphology skos:broadMatch 1 MP:0005238 increased brain size semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-10-02 Down Syndrome HP:0011021 Abnormality of circulating enzyme level skos:narrowMatch 1 MP:0005319 abnormal enzyme/coenzyme level semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-10-02 Down Syndrome HP:0040195 Decreased head circumference skos:relatedMatch 1 MP:0005352 small cranium semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-10-02 Down Syndrome| possibly this could be narrow but I have concerns about calling head circumferunce a 'child' of small cranium. The HP term has microcephaly and mild microcephaly as children, MP has microcephaly as a child of head size HP:0001894 Thrombocytosis skos:exactMatch 1 MP:0005505 thrombocytosis semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-10-02 Down Syndrome HP:0003287 Abnormality of mitochondrial metabolism skos:narrowMatch 1 MP:0006036 abnormal mitochondrial physiology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-10-02 Down Syndrome HP:0012863 Abnormal male germ cell morphology skos:exactMatch 1 MP:0006362 abnormal male germ cell morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-10-02 Down Syndrome HP:0012863 Abnormal male germ cell morphology skos:broadMatch 1 MP:0006378 abnormal spermatogonia morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-10-02 Down Syndrome HP:0020047 Abnormal myeloid cell morphology skos:broadMatch 1 MP:0006410 abnormal common myeloid progenitor cell morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-10-02 Down Syndrome HP:0500032 Abnormal neuron branching skos:narrowMatch 1 MP:0008143 abnormal dendrite morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-10-02 Down Syndrome HP:0005513 Increased megakaryocyte count skos:exactMatch 1 MP:0008254 increased megakaryocyte cell number semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-10-03 Down Syndrome HP:0031515 Abnormal meiosis skos:broadMatch 1 MP:0008261 arrest of male meiosis semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-10-03 Down Syndrome HP:0025100 Abnormal hippocampus morphology skos:broadMatch 1 MP:0008263 abnormal hippocampus CA1 region morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-10-03 Down Syndrome HP:0100961 Enlarged hippocampus skos:exactMatch 1 MP:0008282 enlarged hippocampus semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-10-03 Down Syndrome HP:0025100 Abnormal hippocampus morphology skos:broadMatch 1 MP:0008285 abnormal hippocampus granule cell layer semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-10-03 Down Syndrome HP:0025100 Abnormal hippocampus morphology skos:broadMatch 1 MP:0008286 abnormal hippocampus molecular cell layer semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-10-03 Down Syndrome HP:0002354 Memory impairment skos:relatedMatch 1 MP:0008414 abnormal spatial reference memory semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-10-03 Down Syndrome HP:0002354 Memory impairment skos:relatedMatch 1 MP:0008428 abnormal spatial working memory semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-10-03 Down Syndrome HP:0033687 Short term memory impairment skos:relatedMatch 1 MP:0008431 abnormal short-term spatial reference memory semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-10-03 Down Syndrome HP:0033688 Long term memory impairment skos:relatedMatch 1 MP:0008432 abnormal long-term spatial reference memory semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-10-03 Down Syndrome HP:0025408 Abnormal spleen morphology skos:broadMatch 1 MP:0008470 abnormal spleen B cell follicle morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-10-03 Down Syndrome HP:0011420 Age of death skos:relatedMatch 1 MP:0008770 decreased survivor rate semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-10-03 Down Syndrome HP:0100767 Abnormal placenta morphology skos:broadMatch 1 MP:0008803 abnormal placental labyrinth vasculature morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-10-03 Down Syndrome HP:0025729 Fetal vascular malperfusion skos:relatedMatch 1 MP:0008803 abnormal placental labyrinth vasculature morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-10-03 Down Syndrome HP:0025719 Maternal vascular malperfusion skos:relatedMatch 1 MP:0008803 abnormal placental labyrinth vasculature morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-10-03 Down Syndrome HP:0033125 Follicular lymphoma skos:relatedMatch 1 MP:0009317 increased follicular lymphoma incidence semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-10-03 Down Syndrome HP:0033684 Abnormal muscle fiber-type distribution skos:exactMatch 1 MP:0009409 abnormal skeletal muscle fiber type ratio semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-10-03 Down Syndrome HP:0100543 Cognitive impairment skos:broadMatch 1 MP:0009454 impaired contextual conditioning behavior semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-10-03 Down Syndrome HP:0100543 Cognitive impairment skos:broadMatch 1 MP:0009456 impaired cued conditioning behavior semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-10-03 Down Syndrome HP:0011397 Abnormality of the dorsal column of the spinal cord skos:exactMatch 0.9 MP:0009677 abnormal spinal cord dorsal column morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-10-03 Down Syndrome| this is in the morphology branch in the HP but the definition does not limit the phenotypes to morphology, based on placement called this exact but decreased confidence due to the ambiguity of the definition HP:0030347 Abnormal circulating androgen level skos:exactMatch 1 MP:0009819 abnormal circulating androgen level semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-10-03 Down Syndrome HP:0012757 Abnormal neuron morphology skos:broadMatch 1 MP:0009936 abnormal dendritic spine morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-10-03 Down Syndrome HP:0012638 Abnormal nervous system physiology skos:broadMatch 1 MP:0009967 abnormal neuron proliferation semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-10-03 Down Syndrome HP:0011420 Age of death skos:relatedMatch 1 MP:0010831 lethality, incomplete penetrance semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-10-03 Down Syndrome HP:0011017 Abnormal cellular physiology skos:broadMatch 1 MP:0010954 abnormal cellular respiration semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-10-12 Down Syndrome HP:0012638 Abnormal nervous system physiology skos:broadMatch 1 MP:0011069 abnormal brain ependyma motile cilium physiology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-10-12 Down Syndrome HP:0025100 Abnormal hippocampus morphology skos:broadMatch 1 MP:0011150 abnormal hippocampus stratum oriens morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-10-12 Down Syndrome HP:0100543 Cognitive impairment skos:relatedMatch 1 MP:0011620 abnormal habituation to a new environment semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-10-12 Down Syndrome HP:0008322 Abnormal mitochondrial morphology skos:broadMatch 1 MP:0011639 decreased mitochondrial DNA content semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-10-12 Down Syndrome HP:0003546 Exercise intolerance skos:exactMatch 1 MP:0012106 impaired exercise endurance semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-10-12 Down Syndrome HP:0033353 Abnormal blood vessel morphology skos:broadMatch 1 MP:0012253 abnormal intersomitic vessel morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-10-12 Down Syndrome HP:0100543 Cognitive impairment skos:relatedMatch 1 MP:0012307 impaired spatial learning semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-10-13 Down Syndrome HP:0020222 Hypohomocysteinemia skos:exactMatch 1 MP:0012334 decreased circulating homocysteine level semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-10-13 Down Syndrome| add synonym to MP HP:0100961 Enlarged hippocampus skos:broadMatch 1 MP:0020082 increased hippocampus volume semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-11-16 Down Syndrome HP:0034011 Reduced progressive sperm motility skos:exactMatch 0.9 MP:0020451 decreased sperm progressive motility semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-10-13 Down Syndrome| possibility the the HP term is slightly broader based on the text definition but I think the intent is for these to describe the same phenotype HP:0100961 Enlarged hippocampus skos:exactMatch 1 MP:0008282 enlarged hippocampus semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-11-16 HP:0000069 Abnormality of the ureter skos:broadMatch 1 MP:0000534 abnormal ureter morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2024-01-25 HP:0000069 Abnormality of the ureter skos:broadMatch 1 MP:0003589 abnormal ureter physiology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2024-01-25 HP:0001760 Abnormal foot morphology skos:narrowMatch 1 MP:0000572 abnormal autopod morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2024-01-25 ask Leigh to check the HP definition as this specifies 'skeleton' of the foot HP:0002101 Abnormal lung lobation skos:broadMatch 1 MP:0011011 impaired lung lobe morphogenesis semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2024-01-25 "calling this broad as the MP term is defined as failure to form any of the lobes, we should review the MP definition and usage as it is unclear does this mean at least 1 lobe is affected or that all lobes are affected" HP:0002245 Meckel diverticulum skos:narrowMatch 1 MP:0002581 abnormal ileum morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2024-01-25 HP:0002594 Pancreatic hypoplasia skos:broadMatch 1 MP:0009111 pancreas hypoplasia semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2024-01-25 HP term is defined as 'hypoplasia' but has underdevelopment as a synonym so I went with broad HP:0003115 Abnormal EKG skos:exactMatch 0.7 MP:0010508 abnormal heart electrocardiography waveform feature semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2024-01-25 "check with Leigh, the HP definition is abnormal rhythm and that doesn't seem right" HP:0004414 Abnormality of the pulmonary artery skos:broadMatch 1 MP:0000484 abnormal pulmonary artery morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2024-01-25 the HP term has both morphology and physiology child terms but lives on the morphoogy branch HP:0008771 Aplasia/Hypoplasia of the ear skos:broadMatch 1 MP:0003679 ear lobe hypoplasia semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2024-01-25 HP:0008771 Aplasia/Hypoplasia of the ear skos:broadMatch 1 MP:0006286 inner ear hypoplasia semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2024-01-25 HP:0010872 T-wave inversion skos:narrowMatch 1 MP:0010505 abnormal T wave semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2024-01-25 HP:0011603 Congenital malformation of the great arteries skos:narrowMatch 1 MP:0002191 abnormal artery morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2024-01-25 HP:0011615 Abnormal pulmonary situs morphology skos:narrowMatch 1 MP:0010853 abnormal lung position or orientation semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2024-01-25 HP:0012243 Abnormal reproductive system morphology skos:exactMatch 1 MP:0002160 abnormal reproductive system morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2024-01-25 HP:0010948 Abnormal fetal cardiovascular morphology skos:narrowMatch 1 MP:0000267 abnormal heart development semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2024-01-24 HP:0010948 Abnormal fetal cardiovascular morphology skos:broadMatch 0.9 MP:0000269 abnormal heart looping semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2024-01-24 HP:0003811 Neonatal death skos:narrowMatch 1 MP:0002081 perinatal lethality semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2024-01-24 HP:0006705 Abnormal atrioventricular valve morphology skos:exactMatch 0.8 MP:0002745 abnormal atrioventricular valve morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2024-01-24 the definition of the HPO term does not specify morphology but the term label and placement indicates this is supposed to be morphology so I called this an exact match HP:0001646 Abnormal aortic valve morphology skos:narrowMatch 1 MP:0002746 abnormal semilunar valve morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2024-01-24 HPO lacks the grouping term so I mapped to the 2 specific valves HP:0001641 Abnormal pulmonary valve morphology skos:narrowMatch 1 MP:0002746 abnormal semilunar valve morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2024-01-24 HP:0001696 Situs inversus totalis skos:narrowMatch 0.9 MP:0002766 situs inversus semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2024-01-24 "Placement of these terms is very different, in HPO these are under heart morphology while in the MP these are under heterotaxia, not sure why the HP terms are not under heterotaxy" HP:0031592 Situs inversus with levocardia skos:narrowMatch 0.9 MP:0002766 situs inversus semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2024-01-24 HP:0005120 Abnormal cardiac atrium morphology skos:exactMatch 1 MP:0003105 abnormal heart atrium morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2024-01-24 HP:0001669 Transposition of the great arteries skos:exactMatch 1 MP:0004110 transposition of great arteries semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2024-01-24 HP:0001713 Abnormal cardiac ventricle morphology skos:exactMatch 0.8 MP:0005294 abnormal heart ventricle morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2024-01-24 the definition of the HPO term does not specify morphology but the term label and placement indicates this is supposed to be morphology so I called this an exact match HP:0010883 Aortic valve atresia skos:exactMatch 0.9 MP:0006115 aortic valve atresia semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2024-01-24 definitions are written differently but I think they are intended to be the same HP:0006677 Prolonged QRS complex skos:exactMatch 0.9 MP:0010392 prolonged QRS complex duration semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2024-01-24 some uncertainty based on inclusion of 'duration' in the MP term but I think these are the same HP:0004762 Hypoplasia of right ventricle skos:broadMatch 0.9 MP:0010422 heart right ventricle hypoplasia semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2024-01-24 "HP uses hypoplasia for 'reduced size' not just from decreased cell number, MP only uses hypoplasia for decreased size due to decreased cell number" HP:0001711 Abnormal left ventricle morphology skos:broadMatch 1 MP:0010446 heart left ventricle hypoplasia semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2024-01-24 HP:0030962 Abnormal morphology of the great vessels skos:broadMatch 0.8 MP:0010458 pulmonary trunk hypoplasia semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2024-01-24 does the trunk count as a great vessel? It seemed like the best fit and made sense since the trunk splits into the pulmonary arteries and these are great vessels HP:0004971 Pulmonary artery hypoplasia skos:broadMatch 0.9 MP:0010460 pulmonary artery hypoplasia semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2024-01-24 HP defined as underdevelopment while MP is specifically reduced cell number HP:0012304 Hypoplastic aortic arch skos:broadMatch 0.9 MP:0010485 aortic arch hypoplasia semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2024-01-25 HP defined as underdevelopment while MP is specifically reduced cell number HP:0001679 Abnormal aortic morphology skos:broadMatch 0.9 MP:0010541 aorta hypoplasia semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2024-01-25 HP:0001711 Abnormal left ventricle morphology skos:broadMatch 0.9 MP:0010580 decreased heart left ventricle size semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2024-01-25 HP:0003819 Death in childhood skos:closeMatch 1 MP:0011085 "postnatal lethality, complete penetrance" semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2024-01-25 HP:0011573 Hypoplastic tricuspid valve skos:broadMatch 0.9 MP:0011680 tricuspid valve hypoplasia semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2024-01-25 HP defined as underdevelopment while MP is specifically reduced cell number HP:0001627 Abnormal heart morphology skos:broadMatch 1 MP:0012515 abnormal heart apex morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2024-01-25 HP:0001633 Abnormal mitral valve morphology skos:broadMatch 1 MP:0031523 mitral valve hypoplasia semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2024-01-25 HP:0002669 Osteosarcoma skos:relatedMatch 1 MP:0003789 increased osteosarcoma incidence semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2024-03-26 HP:0002664 Neoplasm skos:broadMatch 1 MP:0001272 increased metastatic potential semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2024-03-26 HP:0040006 Mortality/Aging skos:broadMatch 1 MP:0014237 decreased tumor-free survival time semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2024-03-26 HP:0008897 Postnatal growth retardation skos:exactMatch 1 MP:0001732 postnatal growth retardation semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2024-03-26 HP:0002664 Neoplasm skos:broadMatch 1 MP:0002020 increased tumor incidence semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2024-03-26 HP:0010622 Neoplasm of the skeletal system skos:relatedMatch 1 MP:0010280 increased skeletal tumor incidence semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2024-03-26 HP:0012032 Lipoma skos:relatedMatch 1 MP:0010344 increased hibernoma incidence semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2024-03-26 HP:0011017 Abnormal cellular physiology skos:broadMatch 1 MP:0011804 increased cell migration semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2024-03-26