From e6053e2e09541824e095e1a80872158e896aa207 Mon Sep 17 00:00:00 2001 From: Nico Matentzoglu Date: Tue, 14 Mar 2023 13:16:40 +0200 Subject: [PATCH 1/3] Add qc for example mappings --- .github/workflows/qc.yml | 31 + .../embedded/foodie-inc-2022-05-01.sssom.tsv | 13 +- examples/embedded/mp-hp-exact-0.0.1.sssom.tsv | 1444 ----------------- project.Makefile | 30 +- 4 files changed, 67 insertions(+), 1451 deletions(-) create mode 100644 .github/workflows/qc.yml diff --git a/.github/workflows/qc.yml b/.github/workflows/qc.yml new file mode 100644 index 00000000..78f18741 --- /dev/null +++ b/.github/workflows/qc.yml @@ -0,0 +1,31 @@ +# Basic ODK workflow + +name: CI + +# Controls when the action will run. +on: + # Triggers the workflow on push or pull request events but only for the master branch + push: + branches: [ master ] + pull_request: + branches: [ master ] + + # Allows you to run this workflow manually from the Actions tab + workflow_dispatch: + +# A workflow run is made up of one or more jobs that can run sequentially or in parallel +jobs: + sssom_validation: + runs-on: ubuntu-latest + container: obolibrary/odkfull:v1.4 + steps: + - name: Install latest SSSOM + env: + DEFAULT_BRANCH: master + run: pip install --upgrade pip && pip install -U sssom + - uses: actions/checkout@v2 + - name: Run Mapping QC checks + env: + DEFAULT_BRANCH: master + run: make validate_mappings + diff --git a/examples/embedded/foodie-inc-2022-05-01.sssom.tsv b/examples/embedded/foodie-inc-2022-05-01.sssom.tsv index 16f19b50..a56e983e 100644 --- a/examples/embedded/foodie-inc-2022-05-01.sssom.tsv +++ b/examples/embedded/foodie-inc-2022-05-01.sssom.tsv @@ -1,3 +1,10 @@ +# curie_map: +# FOODON: http://purl.obolibrary.org/obo/FOODON_ +# KF_FOOD: https://kewl-foodie.inc/food/ +# skos: http://www.w3.org/2004/02/skos/core# +# sssom: https://w3id.org/sssom/ +# orcid: https://orcid.org/ +# wikidata: https://www.wikidata.org/wiki/ # mapping_set_id: https://w3id.org/sssom/tutorial/example1.sssom.tsv # license: https://creativecommons.org/licenses/by/4.0/ # mapping_date: '2022-05-02' @@ -10,15 +17,9 @@ # subject_source: KF_FOOD:DB # comment: We could map to FOODON:00004187 instead which more specifically refers to # 'raw' Pink apples. Decided against to be consistent with other mapping choices. -# curie_map: -# FOODON: http://purl.obolibrary.org/obo/FOODON_ -# KF_FOOD: https://kewl-foodie.inc/food/ -# skos: http://www.w3.org/2004/02/skos/core# -# sssom: https://w3id.org/sssom/ subject_id subject_label predicate_id object_id object_label mapping_justification author_id object_source_version mapping_date confidence comment KF_FOOD:F001 apple skos:exactMatch FOODON:00002473 apple (whole) semapv:ManualMappingCuration orcid:0000-0002-7356-1779 http://purl.obolibrary.org/obo/foodon/releases/2022-02-01/foodon.owl 2022-05-02 0.95 "We could map to FOODON:03310788 instead to cover sliced apples, but only ""whole"" apple types exist." KF_FOOD:F002 gala skos:exactMatch FOODON:00003348 Gala apple (whole) semapv:ManualMappingCuration orcid:0000-0002-7356-1779 http://purl.obolibrary.org/obo/foodon/releases/2022-02-01/foodon.owl 2022-05-02 1.0 KF_FOOD:F003 pink skos:exactMatch FOODON:00004187 Pink apple (whole, raw) semapv:ManualMappingCuration orcid:0000-0002-7356-1779 http://purl.obolibrary.org/obo/foodon/releases/2022-02-01/foodon.owl 2022-05-02 0.9 "We could map to FOODON:00004187 instead which more specifically refers to ""raw"" Pink apples. Decided against to be consistent with other mapping choices." KF_FOOD:F004 braeburn skos:exactMatch sssom:NoMapping semapv:ManualMappingCuration orcid:0000-0002-7356-1779 http://purl.obolibrary.org/obo/foodon/releases/2022-02-01/foodon.owl 2022-05-02 1.0 KF_FOOD:F004 braeburn skos:broadMatch FOODON:00002473 apple (whole) semapv:ManualMappingCuration orcid:0000-0002-7356-1779 http://purl.obolibrary.org/obo/foodon/releases/2022-02-01/foodon.owl 2022-05-02 1.0 - diff --git a/examples/embedded/mp-hp-exact-0.0.1.sssom.tsv b/examples/embedded/mp-hp-exact-0.0.1.sssom.tsv index d7fda6aa..f2cacb17 100644 --- a/examples/embedded/mp-hp-exact-0.0.1.sssom.tsv +++ b/examples/embedded/mp-hp-exact-0.0.1.sssom.tsv @@ -1,8 +1,6 @@ -#creator_id: "https://orcid.org/0000-0002-7356-1779" #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" #license: "https://creativecommons.org/publicdomain/zero/1.0/" #mapping_provider: "http://purl.obolibrary.org/obo/upheno.owl" subject_id predicate_id object_id mapping_justification subject_label object_label @@ -48,1445 +46,3 @@ HP:0002212 skos:exactMatch MP:0000410 semapv:LexicalMatching Curly hair waved ha HP:0001596 skos:exactMatch MP:0000414 semapv:LexicalMatching Alopecia alopecia HP:0011457 skos:exactMatch MP:0000425 semapv:LexicalMatching Loss of eyelashes loss of eyelid cilia HP:0000252 skos:exactMatch MP:0000433 semapv:LexicalMatching Microcephaly microcephaly -HP:0000256 skos:exactMatch MP:0000434 semapv:LexicalMatching Macrocephaly megacephaly -HP:0002457 skos:exactMatch MP:0000436 semapv:LexicalMatching Abnormal head movements abnormal head movements -HP:0030791 skos:exactMatch MP:0000454 semapv:LexicalMatching Abnormal jaw morphology abnormal jaw morphology -HP:0000347 skos:exactMatch MP:0000460 semapv:LexicalMatching Micrognathia mandible hypoplasia -HP:0002031 skos:exactMatch MP:0000467 semapv:LexicalMatching Abnormal esophagus morphology abnormal esophagus morphology -HP:0002242 skos:exactMatch MP:0000477 semapv:LexicalMatching Abnormal intestine morphology abnormal intestine morphology -HP:0031855 skos:exactMatch MP:0000508 semapv:LexicalMatching Right isomerism right-sided isomerism -HP:0000126 skos:exactMatch MP:0000519 semapv:LexicalMatching Hydronephrosis hydronephrosis -HP:0010958 skos:exactMatch MP:0000520 semapv:LexicalMatching Bilateral renal agenesis absent kidney -HP:0000803 skos:exactMatch MP:0000522 semapv:LexicalMatching Renal cortical cysts kidney cortex cysts -HP:0001947 skos:exactMatch MP:0000525 semapv:LexicalMatching Renal tubular acidosis renal tubular acidosis -HP:0000072 skos:exactMatch MP:0000536 semapv:LexicalMatching Hydroureter hydroureter -HP:0000021 skos:exactMatch MP:0000539 semapv:LexicalMatching Megacystis distended urinary bladder -HP:0031854 skos:exactMatch MP:0000542 semapv:LexicalMatching Left Isomerism left-sided isomerism -HP:0009826 skos:exactMatch MP:0000547 semapv:LexicalMatching Limb undergrowth short limbs -HP:0004231 skos:exactMatch MP:0000555 semapv:LexicalMatching Carpal bone aplasia absent carpal bone -HP:0009776 skos:exactMatch MP:0000561 semapv:LexicalMatching Adactyly adactyly -HP:0001159 skos:exactMatch MP:0000564 semapv:LexicalMatching Syndactyly syndactyly -HP:0001762 skos:exactMatch MP:0000576 semapv:LexicalMatching Talipes equinovarus clubfoot -HP:0002164 skos:exactMatch MP:0000579 semapv:LexicalMatching Nail dysplasia abnormal nail morphology -HP:0008404 skos:exactMatch MP:0000579 semapv:LexicalMatching Nail dystrophy abnormal nail morphology -HP:0002910 skos:exactMatch MP:0000609 semapv:LexicalMatching Elevated hepatic transaminase abnormal liver physiology -HP:0031865 skos:exactMatch MP:0000609 semapv:LexicalMatching Abnormal liver physiology abnormal liver physiology -HP:0001396 skos:exactMatch MP:0000610 semapv:LexicalMatching Cholestasis cholestasis -HP:0000952 skos:exactMatch MP:0000611 semapv:LexicalMatching Jaundice jaundice -HP:0010286 skos:exactMatch MP:0000613 semapv:LexicalMatching Abnormal salivary gland morphology abnormal salivary gland morphology -HP:0002307 skos:exactMatch MP:0000622 semapv:LexicalMatching Drooling increased salivation -HP:0003781 skos:exactMatch MP:0000622 semapv:LexicalMatching Excessive salivation increased salivation -HP:0000217 skos:exactMatch MP:0000623 semapv:LexicalMatching Xerostomia decreased salivation -HP:0100783 skos:exactMatch MP:0000629 semapv:LexicalMatching Breast aplasia absent mammary gland -HP:0008216 skos:exactMatch MP:0000639 semapv:LexicalMatching Adrenal gland dysgenesis abnormal adrenal gland morphology -HP:0001651 skos:exactMatch MP:0000644 semapv:LexicalMatching Dextrocardia dextrocardia -HP:0032226 skos:exactMatch MP:0000647 semapv:LexicalMatching Abnormal sebaceous gland morphology abnormal sebaceous gland morphology -HP:0410400 skos:exactMatch MP:0000648 semapv:LexicalMatching Absent sebaceous glands absent sebaceous gland -HP:0011599 skos:exactMatch MP:0000650 semapv:LexicalMatching Mesocardia mesocardia -HP:0000971 skos:exactMatch MP:0000674 semapv:LexicalMatching Abnormal sweat gland morphology abnormal sweat gland morphology -HP:0008188 skos:exactMatch MP:0000681 semapv:LexicalMatching Thyroid dysgenesis abnormal thyroid gland morphology -HP:0025408 skos:exactMatch MP:0000689 semapv:LexicalMatching Abnormal spleen morphology abnormal spleen morphology -HP:0002716 skos:exactMatch MP:0000702 semapv:LexicalMatching Lymphadenopathy enlarged lymph nodes -HP:0000778 skos:exactMatch MP:0000706 semapv:LexicalMatching Hypoplasia of the thymus small thymus -HP:0002487 skos:exactMatch MP:0000743 semapv:LexicalMatching Hyperkinetic movements muscle spasm -HP:0003394 skos:exactMatch MP:0000743 semapv:LexicalMatching Muscle spasm muscle spasm -HP:0001337 skos:exactMatch MP:0000745 semapv:LexicalMatching Tremor tremors -HP:0003202 skos:exactMatch MP:0000749 semapv:LexicalMatching Skeletal muscle atrophy muscle degeneration -HP:0003470 skos:exactMatch MP:0000753 semapv:LexicalMatching Paralysis paralysis -HP:0001543 skos:exactMatch MP:0000757 semapv:LexicalMatching Gastroschisis herniated abdominal wall -HP:0011805 skos:exactMatch MP:0000759 semapv:LexicalMatching Abnormal skeletal muscle morphology abnormal skeletal muscle morphology -HP:0030809 skos:exactMatch MP:0000762 semapv:LexicalMatching Abnormal tongue morphology abnormal tongue morphology -HP:0001273 skos:exactMatch MP:0000780 semapv:LexicalMatching Abnormal corpus callosum morphology abnormal corpus callosum morphology -HP:0025101 skos:exactMatch MP:0000808 semapv:LexicalMatching Dysgenesis of the hippocampus abnormal hippocampus development -HP:0001317 skos:exactMatch MP:0000849 semapv:LexicalMatching Abnormal cerebellum morphology abnormal cerebellum morphology -HP:0007033 skos:exactMatch MP:0000849 semapv:LexicalMatching Cerebellar dysplasia abnormal cerebellum morphology -HP:0001321 skos:exactMatch MP:0000852 semapv:LexicalMatching Cerebellar hypoplasia small cerebellum -HP:0030769 skos:exactMatch MP:0000914 semapv:LexicalMatching Exencephaly exencephaly -HP:0012447 skos:exactMatch MP:0000920 semapv:LexicalMatching Abnormal myelination abnormal myelination -HP:0011096 skos:exactMatch MP:0000921 semapv:LexicalMatching Peripheral demyelination demyelination -HP:0007373 skos:exactMatch MP:0000938 semapv:LexicalMatching Motor neuron atrophy motor neuron degeneration -HP:0001291 skos:exactMatch MP:0001056 semapv:LexicalMatching Abnormal cranial nerve morphology abnormal cranial nerve morphology -HP:0000135 skos:exactMatch MP:0001116 semapv:LexicalMatching Hypogonadism small gonad -HP:0031105 skos:exactMatch MP:0001120 semapv:LexicalMatching Abnormal uterus morphology abnormal uterus morphology -HP:0000142 skos:exactMatch MP:0001139 semapv:LexicalMatching Abnormal vagina morphology abnormal vagina morphology -HP:0000035 skos:exactMatch MP:0001146 semapv:LexicalMatching Abnormal testis morphology abnormal testis morphology -HP:0000053 skos:exactMatch MP:0001148 semapv:LexicalMatching Macroorchidism enlarged testis -HP:0008669 skos:exactMatch MP:0001156 semapv:LexicalMatching Abnormal spermatogenesis abnormal spermatogenesis -HP:0008775 skos:exactMatch MP:0001158 semapv:LexicalMatching Abnormal prostate morphology abnormal prostate gland morphology -HP:0002088 skos:exactMatch MP:0001175 semapv:LexicalMatching Abnormal lung morphology abnormal lung morphology -HP:0100750 skos:exactMatch MP:0001177 semapv:LexicalMatching Atelectasis atelectasis -HP:0005944 skos:exactMatch MP:0001181 semapv:LexicalMatching Bilateral lung agenesis absent lungs -HP:0040223 skos:exactMatch MP:0001182 semapv:LexicalMatching Pulmonary hemorrhage lung hemorrhage -HP:0010783 skos:exactMatch MP:0001190 semapv:LexicalMatching Erythema reddish skin -HP:0040189 skos:exactMatch MP:0001192 semapv:LexicalMatching Scaling skin scaly skin -HP:0000963 skos:exactMatch MP:0001199 semapv:LexicalMatching Thin skin thin skin -HP:0001072 skos:exactMatch MP:0001200 semapv:LexicalMatching Thickened skin thick skin -HP:0010648 skos:exactMatch MP:0001201 semapv:LexicalMatching Dermal translucency translucent skin -HP:0000992 skos:exactMatch MP:0001202 semapv:LexicalMatching Cutaneous photosensitivity skin photosensitivity -HP:0200037 skos:exactMatch MP:0001208 semapv:LexicalMatching Skin vesicle blistering -HP:0000962 skos:exactMatch MP:0001242 semapv:LexicalMatching Hyperkeratosis hyperkeratosis -HP:0001552 skos:exactMatch MP:0001268 semapv:LexicalMatching Barrel-shaped chest barrel chest -HP:0000528 skos:exactMatch MP:0001293 semapv:LexicalMatching Anophthalmia anophthalmia -HP:0000568 skos:exactMatch MP:0001297 semapv:LexicalMatching Microphthalmia microphthalmia -HP:0012376 skos:exactMatch MP:0001306 semapv:LexicalMatching Microphakia small lens -HP:0007957 skos:exactMatch MP:0001314 semapv:LexicalMatching Corneal opacity corneal opacity -HP:0007973 skos:exactMatch MP:0001325 semapv:LexicalMatching Retinal dysplasia abnormal retina morphology -HP:0000546 skos:exactMatch MP:0001326 semapv:LexicalMatching Retinal degeneration retinal degeneration -HP:0001093 skos:exactMatch MP:0001330 semapv:LexicalMatching Optic nerve dysplasia abnormal optic nerve morphology -HP:0001097 skos:exactMatch MP:0001337 semapv:LexicalMatching Keratoconjunctivitis sicca dry eyes -HP:0000492 skos:exactMatch MP:0001340 semapv:LexicalMatching Abnormal eyelid morphology abnormal eyelid morphology -HP:0011224 skos:exactMatch MP:0001341 semapv:LexicalMatching Ablepharon absent eyelids -HP:0000508 skos:exactMatch MP:0001344 semapv:LexicalMatching Ptosis blepharoptosis -HP:0007656 skos:exactMatch MP:0001347 semapv:LexicalMatching Lacrimal gland aplasia absent lacrimal glands -HP:0009926 skos:exactMatch MP:0001349 semapv:LexicalMatching Epiphora excessive tearing -HP:0012875 skos:exactMatch MP:0001378 semapv:LexicalMatching Abnormal ejaculation abnormal ejaculation -HP:0000496 skos:exactMatch MP:0001389 semapv:LexicalMatching Abnormality of eye movement abnormal eye movement -HP:0001251 skos:exactMatch MP:0001393 semapv:LexicalMatching Ataxia ataxia -HP:0000752 skos:exactMatch MP:0001399 semapv:LexicalMatching Hyperactivity hyperactivity -HP:0001288 skos:exactMatch MP:0001406 semapv:LexicalMatching Gait disturbance abnormal gait -HP:0000733 skos:exactMatch MP:0001408 semapv:LexicalMatching Stereotypy stereotypic behavior -HP:0030082 skos:exactMatch MP:0001422 semapv:LexicalMatching Abnormal drinking behavior abnormal drinking behavior -HP:0001959 skos:exactMatch MP:0001426 semapv:LexicalMatching Polydipsia polydipsia -HP:0001944 skos:exactMatch MP:0001429 semapv:LexicalMatching Dehydration dehydration -HP:0100738 skos:exactMatch MP:0001431 semapv:LexicalMatching Abnormal eating behavior abnormal eating behavior -HP:0010831 skos:exactMatch MP:0001516 semapv:LexicalMatching Impaired proprioception abnormal motor coordination/balance -HP:0002305 skos:exactMatch MP:0001527 semapv:LexicalMatching Athetosis athetotic walking movements -HP:0030781 skos:exactMatch MP:0001554 semapv:LexicalMatching Increased circulating free fatty acid level increased circulating free fatty acid level -HP:0040214 skos:exactMatch MP:0001560 semapv:LexicalMatching Abnormal insulin level abnormal circulating insulin level -HP:0040215 skos:exactMatch MP:0001560 semapv:LexicalMatching Abnormal circulating insulin level abnormal circulating insulin level -HP:0000961 skos:exactMatch MP:0001575 semapv:LexicalMatching Cyanosis cyanosis -HP:0001903 skos:exactMatch MP:0001577 semapv:LexicalMatching Anemia anemia -HP:0001878 skos:exactMatch MP:0001585 semapv:LexicalMatching Hemolytic anemia hemolytic anemia -HP:0020058 skos:exactMatch MP:0001586 semapv:LexicalMatching Abnormal red blood cell count abnormal erythrocyte cell number -HP:0011902 skos:exactMatch MP:0001588 semapv:LexicalMatching Abnormal hemoglobin abnormal hemoglobin -HP:0025546 skos:exactMatch MP:0001589 semapv:LexicalMatching Abnormal mean corpuscular hemoglobin concentration abnormal mean corpuscular hemoglobin -HP:0002615 skos:exactMatch MP:0001596 semapv:LexicalMatching Hypotension hypotension -HP:0011675 skos:exactMatch MP:0001629 semapv:LexicalMatching Arrhythmia abnormal heart rate -HP:0011675 skos:exactMatch MP:0001636 semapv:LexicalMatching Arrhythmia irregular heartbeat -HP:0002605 skos:exactMatch MP:0001654 semapv:LexicalMatching Hepatic necrosis hepatic necrosis -HP:0002028 skos:exactMatch MP:0001665 semapv:LexicalMatching Chronic diarrhea chronic diarrhea -HP:0008897 skos:exactMatch MP:0001732 semapv:LexicalMatching Postnatal growth retardation postnatal growth retardation -HP:0008232 skos:exactMatch MP:0001750 semapv:LexicalMatching Elevated circulating follicle stimulating hormone level increased circulating follicle stimulating hormone level -HP:0012337 skos:exactMatch MP:0001764 semapv:LexicalMatching Abnormal homeostasis abnormal homeostasis -HP:0000777 skos:exactMatch MP:0001823 semapv:LexicalMatching Abnormality of the thymus thymus hypoplasia -HP:0410035 skos:exactMatch MP:0001828 semapv:LexicalMatching Abnormal T cell activation abnormal T cell activation -HP:0012647 skos:exactMatch MP:0001845 semapv:LexicalMatching Abnormal inflammatory response abnormal inflammatory response -HP:0002383 skos:exactMatch MP:0001847 semapv:LexicalMatching Encephalitis brain inflammation -HP:0012123 skos:exactMatch MP:0001848 semapv:LexicalMatching Posterior uveitis choroid inflammation -HP:0000509 skos:exactMatch MP:0001852 semapv:LexicalMatching Conjunctivitis conjunctivitis -HP:0012819 skos:exactMatch MP:0001856 semapv:LexicalMatching Myocarditis myocarditis -HP:0001701 skos:exactMatch MP:0001857 semapv:LexicalMatching Pericarditis pericarditis -HP:0000123 skos:exactMatch MP:0001859 semapv:LexicalMatching Nephritis kidney inflammation -HP:0012115 skos:exactMatch MP:0001860 semapv:LexicalMatching Hepatitis liver inflammation -HP:0002090 skos:exactMatch MP:0001861 semapv:LexicalMatching Pneumonia lung inflammation -HP:0006515 skos:exactMatch MP:0001862 semapv:LexicalMatching Interstitial pneumonitis interstitial pneumonia -HP:0012384 skos:exactMatch MP:0001866 semapv:LexicalMatching Rhinitis nasal inflammation -HP:0012384 skos:exactMatch MP:0001867 semapv:LexicalMatching Rhinitis rhinitis -HP:0031259 skos:exactMatch MP:0001868 semapv:LexicalMatching Oophoritis ovary inflammation -HP:0001733 skos:exactMatch MP:0001869 semapv:LexicalMatching Pancreatitis pancreas inflammation -HP:0031281 skos:exactMatch MP:0001870 semapv:LexicalMatching Sialadenitis salivary gland inflammation -HP:0000246 skos:exactMatch MP:0001872 semapv:LexicalMatching Sinusitis sinus inflammation -HP:0005263 skos:exactMatch MP:0001873 semapv:LexicalMatching Gastritis stomach inflammation -HP:0025092 skos:exactMatch MP:0001874 semapv:LexicalMatching Epidermal acanthosis acanthosis -HP:0100796 skos:exactMatch MP:0001875 semapv:LexicalMatching Orchitis testis inflammation -HP:0031094 skos:exactMatch MP:0001881 semapv:LexicalMatching Abnormal breast physiology abnormal mammary gland physiology -HP:0002323 skos:exactMatch MP:0001890 semapv:LexicalMatching Anencephaly anencephaly -HP:0000238 skos:exactMatch MP:0001891 semapv:LexicalMatching Hydrocephalus hydrocephaly -HP:0001334 skos:exactMatch MP:0001893 semapv:LexicalMatching Communicating hydrocephalus non-obstructive hydrocephaly -HP:0001342 skos:exactMatch MP:0001916 semapv:LexicalMatching Cerebral hemorrhage intracerebral hemorrhage -HP:0030746 skos:exactMatch MP:0001917 semapv:LexicalMatching Intraventricular hemorrhage intraventricular hemorrhage -HP:0008734 skos:exactMatch MP:0001940 semapv:LexicalMatching Decreased testicular size testis hypoplasia -HP:0002795 skos:exactMatch MP:0001943 semapv:LexicalMatching Functional respiratory abnormality abnormal respiration -HP:0005232 skos:exactMatch MP:0001944 semapv:LexicalMatching Pancreatic dysplasia abnormal pancreas morphology -HP:0031602 skos:exactMatch MP:0001947 semapv:LexicalMatching Abnormal mucociliary clearance abnormal mucociliary clearance -HP:0000076 skos:exactMatch MP:0001948 semapv:LexicalMatching Vesicoureteral reflux vesicoureteral reflux -HP:0002878 skos:exactMatch MP:0001953 semapv:LexicalMatching Respiratory failure respiratory failure -HP:0002094 skos:exactMatch MP:0001954 semapv:LexicalMatching Dyspnea respiratory distress -HP:0002098 skos:exactMatch MP:0001954 semapv:LexicalMatching Respiratory distress respiratory distress -HP:0040213 skos:exactMatch MP:0001956 semapv:LexicalMatching Hypopnea hypopnea -HP:0031826 skos:exactMatch MP:0001961 semapv:LexicalMatching Abnormal reflex abnormal reflex -HP:0000992 skos:exactMatch MP:0001999 semapv:LexicalMatching Cutaneous photosensitivity photosensitivity -HP:0002664 skos:exactMatch MP:0002006 semapv:LexicalMatching Neoplasm neoplasm -HP:0030434 skos:exactMatch MP:0002013 semapv:LexicalMatching Pilomatrixoma increased pilomatricoma incidence -HP:0100243 skos:exactMatch MP:0002035 semapv:LexicalMatching Leiomyosarcoma increased leiomyosarcoma incidence -HP:0002859 skos:exactMatch MP:0002036 semapv:LexicalMatching Rhabdomyosarcoma increased rhabdomyosarcoma incidence -HP:0001250 skos:exactMatch MP:0002064 semapv:LexicalMatching Seizures seizures -HP:0100852 skos:exactMatch MP:0002065 semapv:LexicalMatching Abnormal fear/anxiety-related behavior abnormal fear/anxiety-related behavior -HP:0040202 skos:exactMatch MP:0002069 semapv:LexicalMatching Abnormal consumption behavior abnormal consumption behavior -HP:0011014 skos:exactMatch MP:0002078 semapv:LexicalMatching Abnormal glucose homeostasis abnormal glucose homeostasis -HP:0001000 skos:exactMatch MP:0002095 semapv:LexicalMatching Abnormality of skin pigmentation abnormal skin pigmentation -HP:0031703 skos:exactMatch MP:0002102 semapv:LexicalMatching Abnormal ear morphology abnormal ear morphology -HP:0011805 skos:exactMatch MP:0002108 semapv:LexicalMatching Abnormal skeletal muscle morphology abnormal muscle morphology -HP:0011297 skos:exactMatch MP:0002110 semapv:LexicalMatching Abnormal digit morphology abnormal digit morphology -HP:0000110 skos:exactMatch MP:0002135 semapv:LexicalMatching Renal dysplasia abnormal kidney morphology -HP:0012210 skos:exactMatch MP:0002135 semapv:LexicalMatching Abnormal renal morphology abnormal kidney morphology -HP:0002171 skos:exactMatch MP:0002183 semapv:LexicalMatching Gliosis gliosis -HP:0001961 skos:exactMatch MP:0002188 semapv:LexicalMatching Hypoplastic heart small heart -HP:0012244 skos:exactMatch MP:0002210 semapv:LexicalMatching Abnormal sex determination abnormal sex determination -HP:0010459 skos:exactMatch MP:0002213 semapv:LexicalMatching True hermaphroditism true hermaphroditism -HP:0002180 skos:exactMatch MP:0002229 semapv:LexicalMatching Neurodegeneration neurodegeneration -HP:0025423 skos:exactMatch MP:0002249 semapv:LexicalMatching Abnormal larynx morphology abnormal larynx morphology -HP:0025426 skos:exactMatch MP:0002264 semapv:LexicalMatching Abnormal bronchus morphology abnormal bronchus morphology -HP:0003202 skos:exactMatch MP:0002269 semapv:LexicalMatching Skeletal muscle atrophy muscular atrophy -HP:0001311 skos:exactMatch MP:0002272 semapv:LexicalMatching Abnormal nervous system electrophysiology abnormal nervous system electrophysiology -HP:0002778 skos:exactMatch MP:0002282 semapv:LexicalMatching Abnormal trachea morphology abnormal trachea morphology -HP:0000028 skos:exactMatch MP:0002286 semapv:LexicalMatching Cryptorchidism cryptorchism -HP:0030875 skos:exactMatch MP:0002295 semapv:LexicalMatching Abnormality of pulmonary circulation abnormal pulmonary circulation -HP:0002835 skos:exactMatch MP:0002296 semapv:LexicalMatching Aspiration aspiration -HP:0012416 skos:exactMatch MP:0002318 semapv:LexicalMatching Hypercapnia hypercapnia -HP:0012415 skos:exactMatch MP:0002329 semapv:LexicalMatching Abnormal blood gas level abnormal blood gas level -HP:0025035 skos:exactMatch MP:0002416 semapv:LexicalMatching Abnormal proerythroblast morphology abnormal proerythroblast morphology -HP:0012143 skos:exactMatch MP:0002417 semapv:LexicalMatching Abnormal megakaryocyte morphology abnormal megakaryocyte morphology -HP:0001912 skos:exactMatch MP:0002422 semapv:LexicalMatching Abnormal basophil morphology abnormal basophil morphology -HP:0004312 skos:exactMatch MP:0002424 semapv:LexicalMatching Abnormal reticulocyte morphology abnormal reticulocyte morphology -HP:0001911 skos:exactMatch MP:0002441 semapv:LexicalMatching Abnormal granulocyte morphology abnormal granulocyte morphology -HP:0001877 skos:exactMatch MP:0002447 semapv:LexicalMatching Abnormal erythrocyte morphology abnormal erythrocyte morphology -HP:0100845 skos:exactMatch MP:0002531 semapv:LexicalMatching Anaphylactic shock abnormal type I hypersensitivity reaction -HP:0009803 skos:exactMatch MP:0002543 semapv:LexicalMatching Short phalanx of finger brachyphalangia -HP:0001156 skos:exactMatch MP:0002544 semapv:LexicalMatching Brachydactyly brachydactyly -HP:0011499 skos:exactMatch MP:0002546 semapv:LexicalMatching Mydriasis mydriasis -HP:0012433 skos:exactMatch MP:0002557 semapv:LexicalMatching Abnormal social behavior abnormal social/conspecific interaction -HP:0100851 skos:exactMatch MP:0002572 semapv:LexicalMatching Abnormal emotion/affect behavior abnormal emotion/affect behavior -HP:0410175 skos:exactMatch MP:0002575 semapv:LexicalMatching Hyperketonemia increased circulating ketone body level -HP:0005518 skos:exactMatch MP:0002590 semapv:LexicalMatching Increased mean corpuscular volume increased mean corpuscular volume -HP:0025066 skos:exactMatch MP:0002591 semapv:LexicalMatching Decreased mean corpuscular volume decreased mean corpuscular volume -HP:0031850 skos:exactMatch MP:0002596 semapv:LexicalMatching Abnormal hematocrit abnormal hematocrit -HP:0020064 skos:exactMatch MP:0002602 semapv:LexicalMatching Abnormal eosinophil count abnormal eosinophil cell number -HP:0001899 skos:exactMatch MP:0002608 semapv:LexicalMatching Increased hematocrit increased hematocrit -HP:0004332 skos:exactMatch MP:0002619 semapv:LexicalMatching Abnormal lymphocyte morphology abnormal lymphocyte morphology -HP:0001702 skos:exactMatch MP:0002624 semapv:LexicalMatching Abnormal tricuspid valve morphology abnormal tricuspid valve morphology -HP:0030732 skos:exactMatch MP:0002624 semapv:LexicalMatching Dysplastic tricuspid valve abnormal tricuspid valve morphology -HP:0001712 skos:exactMatch MP:0002625 semapv:LexicalMatching Left ventricular hypertrophy heart left ventricle hypertrophy -HP:0001649 skos:exactMatch MP:0002626 semapv:LexicalMatching Tachycardia increased heart rate -HP:0001397 skos:exactMatch MP:0002628 semapv:LexicalMatching Hepatic steatosis hepatic steatosis -HP:0001660 skos:exactMatch MP:0002633 semapv:LexicalMatching Truncus arteriosus persistent truncus arteriosis -HP:0000013 skos:exactMatch MP:0002637 semapv:LexicalMatching Hypoplasia of the uterus small uterus -HP:0000347 skos:exactMatch MP:0002639 semapv:LexicalMatching Micrognathia micrognathia -HP:0011273 skos:exactMatch MP:0002642 semapv:LexicalMatching Anisocytosis anisocytosis -HP:0008707 skos:exactMatch MP:0002670 semapv:LexicalMatching Absent scrotum absent scrotum -HP:0012206 skos:exactMatch MP:0002674 semapv:LexicalMatching Abnormal sperm motility abnormal sperm motility -HP:0012207 skos:exactMatch MP:0002675 semapv:LexicalMatching Reduced sperm motility asthenozoospermia -HP:0012205 skos:exactMatch MP:0002686 semapv:LexicalMatching Globozoospermia globozoospermia -HP:0000798 skos:exactMatch MP:0002687 semapv:LexicalMatching Oligospermia oligozoospermia -HP:0002304 skos:exactMatch MP:0002690 semapv:LexicalMatching Akinesia akinesia -HP:0030687 skos:exactMatch MP:0002695 semapv:LexicalMatching Abnormal glucagon level abnormal circulating glucagon level -HP:0040299 skos:exactMatch MP:0002702 semapv:LexicalMatching Decreased circulating free fatty acid level decreased circulating free fatty acid level -HP:0000787 skos:exactMatch MP:0002708 semapv:LexicalMatching Nephrolithiasis nephrolithiasis -HP:0009556 skos:exactMatch MP:0002728 semapv:LexicalMatching Absent tibia absent tibia -HP:0002251 skos:exactMatch MP:0002731 semapv:LexicalMatching Aganglionic megacolon megacolon -HP:0025367 skos:exactMatch MP:0002732 semapv:LexicalMatching Trichoepithelioma increased trichoepithelioma incidence -HP:0000099 skos:exactMatch MP:0002743 semapv:LexicalMatching Glomerulonephritis glomerulonephritis -HP:0001646 skos:exactMatch MP:0002747 semapv:LexicalMatching Abnormal aortic valve morphology abnormal aortic valve morphology -HP:0001641 skos:exactMatch MP:0002748 semapv:LexicalMatching Abnormal pulmonary valve morphology abnormal pulmonary valve morphology -HP:0005164 skos:exactMatch MP:0002748 semapv:LexicalMatching Dysplastic pulmonary valve abnormal pulmonary valve morphology -HP:0000520 skos:exactMatch MP:0002750 semapv:LexicalMatching Proptosis exophthalmos -HP:0005133 skos:exactMatch MP:0002754 semapv:LexicalMatching Right ventricular dilatation dilated heart right ventricle -HP:0005736 skos:exactMatch MP:0002764 semapv:LexicalMatching Short tibia short tibia -HP:0003038 skos:exactMatch MP:0002765 semapv:LexicalMatching Fibular hypoplasia short fibula -HP:0003363 skos:exactMatch MP:0002766 semapv:LexicalMatching Abdominal situs inversus situs inversus -HP:0000835 skos:exactMatch MP:0002768 semapv:LexicalMatching Adrenal hypoplasia small adrenal glands -HP:0012872 skos:exactMatch MP:0002769 semapv:LexicalMatching Abnormal vas deferens morphology abnormal vas deferens morphology -HP:0030341 skos:exactMatch MP:0002790 semapv:LexicalMatching Decreased circulating follicle stimulating hormone level decreased circulating follicle stimulating hormone level -HP:0002570 skos:exactMatch MP:0002791 semapv:LexicalMatching Steatorrhea steatorrhea -HP:0001142 skos:exactMatch MP:0002794 semapv:LexicalMatching Lenticonus lenticonus -HP:0001644 skos:exactMatch MP:0002795 semapv:LexicalMatching Dilated cardiomyopathy dilated cardiomyopathy -HP:0001935 skos:exactMatch MP:0002810 semapv:LexicalMatching Microcytic anemia microcytic anemia -HP:0001972 skos:exactMatch MP:0002811 semapv:LexicalMatching Macrocytic anemia macrocytic anemia -HP:0025066 skos:exactMatch MP:0002813 semapv:LexicalMatching Decreased mean corpuscular volume microcytosis -HP:0002583 skos:exactMatch MP:0002816 semapv:LexicalMatching Colitis colitis -HP:0031263 skos:exactMatch MP:0002827 semapv:LexicalMatching Abnormal renal corpuscle morphology abnormal renal corpuscle morphology -HP:0031264 skos:exactMatch MP:0002828 semapv:LexicalMatching Abnormal morphology of Bowman capsule abnormal renal glomerular capsule morphology -HP:0001081 skos:exactMatch MP:0002830 semapv:LexicalMatching Cholelithiasis gallstones -HP:0002615 skos:exactMatch MP:0002843 semapv:LexicalMatching Hypotension decreased systemic arterial blood pressure -HP:0012212 skos:exactMatch MP:0002847 semapv:LexicalMatching Abnormal glomerular filtration rate abnormal renal glomerular filtration rate -HP:0012592 skos:exactMatch MP:0002871 semapv:LexicalMatching Albuminuria albuminuria -HP:0020060 skos:exactMatch MP:0002875 semapv:LexicalMatching Decreased red blood cell count decreased erythrocyte cell number -HP:0002179 skos:exactMatch MP:0002880 semapv:LexicalMatching Opisthotonus opisthotonus -HP:0002919 skos:exactMatch MP:0002893 semapv:LexicalMatching Ketonuria ketoaciduria -HP:0012378 skos:exactMatch MP:0002899 semapv:LexicalMatching Fatigue fatigue -HP:0003109 skos:exactMatch MP:0002901 semapv:LexicalMatching Hyperphosphaturia increased urine phosphate level -HP:0012365 skos:exactMatch MP:0002902 semapv:LexicalMatching Hypophosphaturia decreased urine phosphate level -HP:0031817 skos:exactMatch MP:0002905 semapv:LexicalMatching Decreased circulating parathyroid hormone level decreased circulating parathyroid hormone level -HP:0030191 skos:exactMatch MP:0002913 semapv:LexicalMatching Abnormal peripheral nervous system synaptic transmission abnormal PNS synaptic transmission -HP:0002251 skos:exactMatch MP:0002926 semapv:LexicalMatching Aganglionic megacolon aganglionic megacolon -HP:0001367 skos:exactMatch MP:0002932 semapv:LexicalMatching Abnormal joint morphology abnormal joint morphology -HP:0100769 skos:exactMatch MP:0002933 semapv:LexicalMatching Synovitis joint inflammation -HP:0012594 skos:exactMatch MP:0002959 semapv:LexicalMatching Microalbuminuria increased urine microalbumin level -HP:0012117 skos:exactMatch MP:0002965 semapv:LexicalMatching Hyperalbuminemia increased circulating serum albumin level -HP:0012861 skos:exactMatch MP:0002996 semapv:LexicalMatching Ovotestis ovotestis -HP:0001948 skos:exactMatch MP:0003028 semapv:LexicalMatching Alkalosis alkalosis -HP:0032369 skos:exactMatch MP:0003029 semapv:LexicalMatching Alkalemia alkalemia -HP:0032368 skos:exactMatch MP:0003030 semapv:LexicalMatching Acidemia acidemia -HP:0012417 skos:exactMatch MP:0003032 semapv:LexicalMatching Hypocapnia hypocapnia -HP:0005317 skos:exactMatch MP:0003034 semapv:LexicalMatching Increased pulmonary vascular resistance increased pulmonary vascular resistance -HP:0001394 skos:exactMatch MP:0003046 semapv:LexicalMatching Cirrhosis liver cirrhosis -HP:0001539 skos:exactMatch MP:0003052 semapv:LexicalMatching Omphalocele omphalocele -HP:0000684 skos:exactMatch MP:0003053 semapv:LexicalMatching Delayed eruption of teeth delayed tooth eruption -HP:0002414 skos:exactMatch MP:0003054 semapv:LexicalMatching Spina bifida spina bifida -HP:0010301 skos:exactMatch MP:0003054 semapv:LexicalMatching Spinal dysraphism spina bifida -HP:0004303 skos:exactMatch MP:0003084 semapv:LexicalMatching Abnormal muscle fiber morphology abnormal skeletal muscle fiber morphology -HP:0100565 skos:exactMatch MP:0003086 semapv:LexicalMatching Hydromyelia hydromyelia -HP:0000541 skos:exactMatch MP:0003099 semapv:LexicalMatching Retinal detachment retinal detachment -HP:0000545 skos:exactMatch MP:0003100 semapv:LexicalMatching Myopia myopia -HP:0011003 skos:exactMatch MP:0003101 semapv:LexicalMatching High myopia high myopia -HP:0030716 skos:exactMatch MP:0003104 semapv:LexicalMatching Acrania acrania -HP:0002748 skos:exactMatch MP:0003116 semapv:LexicalMatching Rickets rickets -HP:0000047 skos:exactMatch MP:0003124 semapv:LexicalMatching Hypospadias hypospadia -HP:0012621 skos:exactMatch MP:0003129 semapv:LexicalMatching Persistent cloaca persistent cloaca -HP:0009892 skos:exactMatch MP:0003142 semapv:LexicalMatching Anotia anotia -HP:0100736 skos:exactMatch MP:0003154 semapv:LexicalMatching Abnormal soft palate morphology abnormal soft palate morphology -HP:0002015 skos:exactMatch MP:0003158 semapv:LexicalMatching Dysphagia dysphagia -HP:0012533 skos:exactMatch MP:0003177 semapv:LexicalMatching Allodynia allodynia -HP:0003761 skos:exactMatch MP:0003195 semapv:LexicalMatching Calcinosis calcinosis -HP:0000121 skos:exactMatch MP:0003197 semapv:LexicalMatching Nephrocalcinosis nephrocalcinosis -HP:0002185 skos:exactMatch MP:0003214 semapv:LexicalMatching Neurofibrillary tangles neurofibrillary tangles -HP:0005576 skos:exactMatch MP:0003215 semapv:LexicalMatching Tubulointerstitial fibrosis renal interstitial fibrosis -HP:0002121 skos:exactMatch MP:0003216 semapv:LexicalMatching Absence seizure absence seizures -HP:0001657 skos:exactMatch MP:0003233 semapv:LexicalMatching Prolonged QT interval prolonged QT interval -HP:0011467 skos:exactMatch MP:0003250 semapv:LexicalMatching Absent gallbladder absent gallbladder -HP:0001082 skos:exactMatch MP:0003251 semapv:LexicalMatching Cholecystitis gallbladder inflammation -HP:0030151 skos:exactMatch MP:0003254 semapv:LexicalMatching Cholangitis bile duct inflammation -HP:0001408 skos:exactMatch MP:0003255 semapv:LexicalMatching Bile duct proliferation bile duct proliferation -HP:0002613 skos:exactMatch MP:0003256 semapv:LexicalMatching Biliary cirrhosis biliary cirrhosis -HP:0002036 skos:exactMatch MP:0003258 semapv:LexicalMatching Hiatus hernia hiatal hernia -HP:0002018 skos:exactMatch MP:0003259 semapv:LexicalMatching Nausea nausea -HP:0002013 skos:exactMatch MP:0003260 semapv:LexicalMatching Vomiting vomiting -HP:0002248 skos:exactMatch MP:0003261 semapv:LexicalMatching Hematemesis hematemesis -HP:0100890 skos:exactMatch MP:0003266 semapv:LexicalMatching Cyst of the ductus choledochus biliary cyst -HP:0012450 skos:exactMatch MP:0003268 semapv:LexicalMatching Chronic constipation chronic constipation -HP:0100633 skos:exactMatch MP:0003278 semapv:LexicalMatching Esophagitis esophageal inflammation -HP:0000020 skos:exactMatch MP:0003280 semapv:LexicalMatching Urinary incontinence urinary incontinence -HP:0002607 skos:exactMatch MP:0003281 semapv:LexicalMatching Bowel incontinence fecal incontinence -HP:0002020 skos:exactMatch MP:0003286 semapv:LexicalMatching Gastroesophageal reflux gastroesophageal reflux -HP:0002573 skos:exactMatch MP:0003293 semapv:LexicalMatching Hematochezia rectal hemorrhage -HP:0002576 skos:exactMatch MP:0003294 semapv:LexicalMatching Intussusception intussusception -HP:0004398 skos:exactMatch MP:0003301 semapv:LexicalMatching Peptic ulcer peptic ulcer -HP:0002021 skos:exactMatch MP:0003307 semapv:LexicalMatching Pyloric stenosis pyloric stenosis -HP:0001310 skos:exactMatch MP:0003314 semapv:LexicalMatching Dysmetria dysmetria -HP:0005218 skos:exactMatch MP:0003317 semapv:LexicalMatching Anoperineal fistula anoperineal fistula -HP:0004792 skos:exactMatch MP:0003318 semapv:LexicalMatching Rectoperineal fistula rectoperineal fistula -HP:0000143 skos:exactMatch MP:0003320 semapv:LexicalMatching Rectovaginal fistula rectovaginal fistula -HP:0001395 skos:exactMatch MP:0003333 semapv:LexicalMatching Hepatic fibrosis liver fibrosis -HP:0100732 skos:exactMatch MP:0003334 semapv:LexicalMatching Pancreatic fibrosis pancreas fibrosis -HP:0006280 skos:exactMatch MP:0003341 semapv:LexicalMatching Chronic pancreatitis chronic pancreas inflammation -HP:0001747 skos:exactMatch MP:0003342 semapv:LexicalMatching Accessory spleen accessory spleen -HP:0001748 skos:exactMatch MP:0003342 semapv:LexicalMatching Polysplenia accessory spleen -HP:0003187 skos:exactMatch MP:0003344 semapv:LexicalMatching Breast hypoplasia mammary gland hypoplasia -HP:0011957 skos:exactMatch MP:0003346 semapv:LexicalMatching Abnormal pectoral muscle morphology abnormal pectoral muscle morphology -HP:0002446 skos:exactMatch MP:0003354 semapv:LexicalMatching Astrocytosis astrocytosis -HP:0030338 skos:exactMatch MP:0003361 semapv:LexicalMatching Abnormal circulating gonadotropin level abnormal circulating gonadotropin level -HP:0000837 skos:exactMatch MP:0003362 semapv:LexicalMatching Increased circulating gonadotropin level increased circulating gonadotropin level -HP:0030339 skos:exactMatch MP:0003363 semapv:LexicalMatching Decreased circulating gonadotropin level decreased circulating gonadotropin level -HP:0025132 skos:exactMatch MP:0003369 semapv:LexicalMatching Abnormal circulating estrogen level abnormal circulating estrogen level -HP:0000826 skos:exactMatch MP:0003378 semapv:LexicalMatching Precocious puberty early sexual maturation -HP:0001680 skos:exactMatch MP:0003387 semapv:LexicalMatching Coarctation of aorta aorta coarctation -HP:0001004 skos:exactMatch MP:0003390 semapv:LexicalMatching Lymphedema lymphedema -HP:0031251 skos:exactMatch MP:0003395 semapv:LexicalMatching Abnormal subclavian artery morphology abnormal subclavian artery morphology -HP:0200040 skos:exactMatch MP:0003414 semapv:LexicalMatching Epidermoid cyst epidermal cyst -HP:0001036 skos:exactMatch MP:0003427 semapv:LexicalMatching Parakeratosis parakeratosis -HP:0000843 skos:exactMatch MP:0003432 semapv:LexicalMatching Hyperparathyroidism increased activity of parathyroid -HP:0000829 skos:exactMatch MP:0003433 semapv:LexicalMatching Hypoparathyroidism decreased activity of parathyroid -HP:0031794 skos:exactMatch MP:0003442 semapv:LexicalMatching Decreased circulating glycerol level decreased circulating glycerol level -HP:0010497 skos:exactMatch MP:0003445 semapv:LexicalMatching Sirenomelia sirenomelia -HP:0000197 skos:exactMatch MP:0003452 semapv:LexicalMatching Abnormal parotid gland morphology abnormal parotid gland morphology -HP:0001019 skos:exactMatch MP:0003454 semapv:LexicalMatching Erythroderma erythroderma -HP:0100646 skos:exactMatch MP:0003504 semapv:LexicalMatching Thyroiditis thyroid gland inflammation -HP:0012882 skos:exactMatch MP:0003517 semapv:LexicalMatching Hyperplastic labia majora enlarged labia majora -HP:0000059 skos:exactMatch MP:0003518 semapv:LexicalMatching Hypoplastic labia majora small labia majora -HP:0008665 skos:exactMatch MP:0003529 semapv:LexicalMatching Clitoral hypertrophy enlarged clitoris -HP:0000060 skos:exactMatch MP:0003530 semapv:LexicalMatching Clitoral hypoplasia small clitoris -HP:0001153 skos:exactMatch MP:0003533 semapv:LexicalMatching Septate vagina bifid vagina -HP:0040314 skos:exactMatch MP:0003534 semapv:LexicalMatching Blind vagina blind vagina -HP:0031088 skos:exactMatch MP:0003536 semapv:LexicalMatching Vaginal dryness vagina dryness -HP:0030010 skos:exactMatch MP:0003537 semapv:LexicalMatching Hydrometrocolpos hydrometrocolpos -HP:0030011 skos:exactMatch MP:0003540 semapv:LexicalMatching Imperforate hymen imperforate hymen -HP:0030683 skos:exactMatch MP:0003541 semapv:LexicalMatching Vaginitis vaginal inflammation -HP:0001741 skos:exactMatch MP:0003554 semapv:LexicalMatching Phimosis phimosis -HP:0000041 skos:exactMatch MP:0003555 semapv:LexicalMatching Chordee chordee -HP:0012873 skos:exactMatch MP:0003557 semapv:LexicalMatching Absent vas deferens absent vas deferens -HP:0002758 skos:exactMatch MP:0003560 semapv:LexicalMatching Osteoarthritis osteoarthritis -HP:0001370 skos:exactMatch MP:0003561 semapv:LexicalMatching Rheumatoid arthritis rheumatoid arthritis -HP:0010463 skos:exactMatch MP:0003578 semapv:LexicalMatching Aplasia of the ovary absent ovary -HP:0025318 skos:exactMatch MP:0003579 semapv:LexicalMatching Ovarian carcinoma increased ovarian carcinoma incidence -HP:0000072 skos:exactMatch MP:0003585 semapv:LexicalMatching Hydroureter large ureter -HP:0025634 skos:exactMatch MP:0003589 semapv:LexicalMatching Abnormal ureter physiology abnormal ureter physiology -HP:0000076 skos:exactMatch MP:0003590 semapv:LexicalMatching Vesicoureteral reflux ureteral reflux -HP:0008716 skos:exactMatch MP:0003593 semapv:LexicalMatching Urethrovaginal fistula urethrovaginal fistula -HP:0030424 skos:exactMatch MP:0003595 semapv:LexicalMatching Epididymal cyst epididymal cyst -HP:0000039 skos:exactMatch MP:0003598 semapv:LexicalMatching Epispadias epispadia -HP:0008696 skos:exactMatch MP:0003602 semapv:LexicalMatching Renal hamartoma increased renal hamartoma incidence -HP:0000122 skos:exactMatch MP:0003604 semapv:LexicalMatching Unilateral renal agenesis single kidney -HP:0000024 skos:exactMatch MP:0003608 semapv:LexicalMatching Prostatitis prostate gland inflammation -HP:0030276 skos:exactMatch MP:0003609 semapv:LexicalMatching Small scrotum small scrotum -HP:0100645 skos:exactMatch MP:0003614 semapv:LexicalMatching Cystocele urinary bladder prolapse -HP:0000015 skos:exactMatch MP:0003615 semapv:LexicalMatching Bladder diverticulum urinary bladder diverticulum -HP:0100520 skos:exactMatch MP:0003620 semapv:LexicalMatching Oliguria oliguria -HP:0100518 skos:exactMatch MP:0003621 semapv:LexicalMatching Dysuria dysuria -HP:0000016 skos:exactMatch MP:0003622 semapv:LexicalMatching Urinary retention ischuria -HP:0012535 skos:exactMatch MP:0003635 semapv:LexicalMatching Abnormal synaptic transmission abnormal synaptic transmission -HP:0002089 skos:exactMatch MP:0003641 semapv:LexicalMatching Pulmonary hypoplasia small lung -HP:0010310 skos:exactMatch MP:0003660 semapv:LexicalMatching Chylothorax chylothorax -HP:0200058 skos:exactMatch MP:0003667 semapv:LexicalMatching Angiosarcoma increased hemangiosarcoma incidence -HP:0000387 skos:exactMatch MP:0003678 semapv:LexicalMatching Absent earlobe absent ear lobes -HP:0009748 skos:exactMatch MP:0003680 semapv:LexicalMatching Large earlobe thick ear lobes -HP:0009748 skos:exactMatch MP:0003683 semapv:LexicalMatching Large earlobe prominent ear lobes -HP:0000597 skos:exactMatch MP:0003688 semapv:LexicalMatching Ophthalmoparesis ophthalmoparesis -HP:0001114 skos:exactMatch MP:0003692 semapv:LexicalMatching Xanthelasma xanthoma -HP:0020156 skos:exactMatch MP:0003696 semapv:LexicalMatching Abnormal zona pellucida morphology abnormal zona pellucida morphology -HP:0000980 skos:exactMatch MP:0003717 semapv:LexicalMatching Pallor pallor -HP:0000378 skos:exactMatch MP:0003735 semapv:LexicalMatching Cupped ear cup-shaped ears -HP:0005103 skos:exactMatch MP:0003737 semapv:LexicalMatching Calcification of the auricular cartilage ossification of pinnae -HP:0005473 skos:exactMatch MP:0003740 semapv:LexicalMatching Fusion of middle ear ossicles fusion of middle ear ossicles -HP:0000360 skos:exactMatch MP:0003741 semapv:LexicalMatching Tinnitus tinnitus -HP:0000268 skos:exactMatch MP:0003742 semapv:LexicalMatching Dolichocephaly narrow head -HP:0010280 skos:exactMatch MP:0003746 semapv:LexicalMatching Stomatitis stomatitis -HP:0002714 skos:exactMatch MP:0003749 semapv:LexicalMatching Downturned corners of mouth down-turned corners of mouth -HP:0002745 skos:exactMatch MP:0003751 semapv:LexicalMatching Oral leukoplakia oral leukoplakia -HP:0000174 skos:exactMatch MP:0003755 semapv:LexicalMatching Abnormal palate morphology abnormal palate morphology -HP:0012472 skos:exactMatch MP:0003773 semapv:LexicalMatching Eclabion eclabion -HP:0012471 skos:exactMatch MP:0003774 semapv:LexicalMatching Thick vermilion border thick lip -HP:0100825 skos:exactMatch MP:0003777 semapv:LexicalMatching Cheilitis lip inflammation -HP:0003103 skos:exactMatch MP:0003797 semapv:LexicalMatching Abnormal cortical bone morphology abnormal compact bone morphology -HP:0012385 skos:exactMatch MP:0003807 semapv:LexicalMatching Camptodactyly camptodactyly -HP:0002299 skos:exactMatch MP:0003848 semapv:LexicalMatching Brittle hair brittle hair -HP:0000958 skos:exactMatch MP:0003853 semapv:LexicalMatching Dry skin dry skin -HP:0002840 skos:exactMatch MP:0003865 semapv:LexicalMatching Lymphadenitis lymph node inflammation -HP:0031685 skos:exactMatch MP:0003868 semapv:LexicalMatching Abnormal stool composition abnormal feces composition -HP:0012575 skos:exactMatch MP:0003881 semapv:LexicalMatching Abnormal nephron morphology abnormal nephron morphology -HP:0030850 skos:exactMatch MP:0003882 semapv:LexicalMatching Abnormal pulse pressure abnormal pulse pressure -HP:0012248 skos:exactMatch MP:0003896 semapv:LexicalMatching Prolonged PR interval prolonged PR interval -HP:0012249 skos:exactMatch MP:0003897 semapv:LexicalMatching Abnormal ST segment abnormal ST segment -HP:0025074 skos:exactMatch MP:0003898 semapv:LexicalMatching Abnormal QRS complex abnormal QRS complex -HP:0031547 skos:exactMatch MP:0003899 semapv:LexicalMatching Abnormal QT interval abnormal QT interval -HP:0012232 skos:exactMatch MP:0003900 semapv:LexicalMatching Shortened QT interval shortened QT interval -HP:0031593 skos:exactMatch MP:0003901 semapv:LexicalMatching Abnormal PR interval abnormal PR interval -HP:0000776 skos:exactMatch MP:0003924 semapv:LexicalMatching Congenital diaphragmatic hernia diaphragmatic hernia -HP:0031862 skos:exactMatch MP:0003928 semapv:LexicalMatching Increased heart rate variability increased heart rate variability -HP:0031861 skos:exactMatch MP:0003929 semapv:LexicalMatching Decreased heart rate variability decreased heart rate variability -HP:0011054 skos:exactMatch MP:0003931 semapv:LexicalMatching Agenesis of molar absent molars -HP:0031409 skos:exactMatch MP:0003945 semapv:LexicalMatching Abnormal lymphocyte physiology abnormal lymphocyte physiology -HP:0032367 skos:exactMatch MP:0003968 semapv:LexicalMatching Abnormal growth hormone level abnormal growth hormone level -HP:0030345 skos:exactMatch MP:0003969 semapv:LexicalMatching Abnormal circulating luteinizing hormone level abnormal luteinizing hormone level -HP:0040086 skos:exactMatch MP:0003970 semapv:LexicalMatching Abnormal prolactin level abnormal prolactin level -HP:0031097 skos:exactMatch MP:0003971 semapv:LexicalMatching Abnormal thyroid-stimulating hormone level abnormal thyroid-stimulating hormone level -HP:0030760 skos:exactMatch MP:0003985 semapv:LexicalMatching Renal fibrosis renal fibrosis -HP:0002634 skos:exactMatch MP:0003991 semapv:LexicalMatching Arteriosclerosis arteriosclerosis -HP:0002069 skos:exactMatch MP:0003997 semapv:LexicalMatching Generalized tonic-clonic seizures tonic-clonic seizures -HP:0004890 skos:exactMatch MP:0004012 semapv:LexicalMatching Elevated pulmonary artery pressure increased pulmonary artery pressure -HP:0001561 skos:exactMatch MP:0004020 semapv:LexicalMatching Polyhydramnios polyhydramnios -HP:0040012 skos:exactMatch MP:0004028 semapv:LexicalMatching Chromosome breakage chromosome breakage -HP:0002647 skos:exactMatch MP:0004044 semapv:LexicalMatching Aortic dissection aortic dissection -HP:0031196 skos:exactMatch MP:0004057 semapv:LexicalMatching Thin myocardium compact layer thin myocardium compact layer -HP:0030718 skos:exactMatch MP:0004062 semapv:LexicalMatching Right atrial enlargement dilated heart right atrium -HP:0031595 skos:exactMatch MP:0004070 semapv:LexicalMatching Abnormal P wave abnormal P wave -HP:0002339 skos:exactMatch MP:0004078 semapv:LexicalMatching Abnormal caudate nucleus morphology abnormal caudate nucleus morphology -HP:0031982 skos:exactMatch MP:0004079 semapv:LexicalMatching Abnormal putamen morphology abnormal putamen morphology -HP:0002453 skos:exactMatch MP:0004081 semapv:LexicalMatching Abnormal globus pallidus morphology abnormal globus pallidus morphology -HP:0004303 skos:exactMatch MP:0004087 semapv:LexicalMatching Abnormal muscle fiber morphology abnormal muscle fiber morphology -HP:0006704 skos:exactMatch MP:0004111 semapv:LexicalMatching Abnormal coronary artery morphology abnormal coronary artery morphology -HP:0002900 skos:exactMatch MP:0004119 semapv:LexicalMatching Hypokalemia hypokalemia -HP:0030853 skos:exactMatch MP:0004133 semapv:LexicalMatching Heterotaxy heterotaxia -HP:0001257 skos:exactMatch MP:0004143 semapv:LexicalMatching Spasticity muscle hypertonia -HP:0008682 skos:exactMatch MP:0004154 semapv:LexicalMatching Acute tubular necrosis renal tubular necrosis -HP:0011611 skos:exactMatch MP:0004157 semapv:LexicalMatching Interrupted aortic arch interrupted aortic arch -HP:0012020 skos:exactMatch MP:0004158 semapv:LexicalMatching Right aortic arch right aortic arch -HP:0011590 skos:exactMatch MP:0004159 semapv:LexicalMatching Double aortic arch double aortic arch -HP:0011588 skos:exactMatch MP:0004161 semapv:LexicalMatching Cervical aortic arch cervical aortic arch -HP:0005344 skos:exactMatch MP:0004181 semapv:LexicalMatching Abnormal carotid artery morphology abnormal carotid artery morphology -HP:0010944 skos:exactMatch MP:0004194 semapv:LexicalMatching Abnormal renal pelvis morphology abnormal kidney pelvis morphology -HP:0100792 skos:exactMatch MP:0004241 semapv:LexicalMatching Acantholysis acantholysis -HP:0011970 skos:exactMatch MP:0004254 semapv:LexicalMatching Cerebral amyloid angiopathy cerebral amyloid angiopathy -HP:0000278 skos:exactMatch MP:0004282 semapv:LexicalMatching Retrognathia retrognathia -HP:0031000 skos:exactMatch MP:0004329 semapv:LexicalMatching Vestibular saccular degeneration vestibular saccular degeneration -HP:0000894 skos:exactMatch MP:0004337 semapv:LexicalMatching Short clavicles clavicle hypoplasia -HP:0010317 skos:exactMatch MP:0004341 semapv:LexicalMatching Scapular aplasia absent scapula -HP:0000882 skos:exactMatch MP:0004343 semapv:LexicalMatching Hypoplastic scapulae small scapula -HP:0002984 skos:exactMatch MP:0004355 semapv:LexicalMatching Hypoplasia of the radius short radius -HP:0003022 skos:exactMatch MP:0004359 semapv:LexicalMatching Hypoplasia of the ulna short ulna -HP:0100616 skos:exactMatch MP:0004478 semapv:LexicalMatching Testicular teratoma increased testicular teratoma incidence -HP:0100614 skos:exactMatch MP:0004510 semapv:LexicalMatching Myositis myositis -HP:0000458 skos:exactMatch MP:0004512 semapv:LexicalMatching Anosmia anosmia -HP:0010667 skos:exactMatch MP:0004539 semapv:LexicalMatching Aplasia of the maxilla absent maxilla -HP:0000327 skos:exactMatch MP:0004540 semapv:LexicalMatching Hypoplasia of the maxilla small maxilla -HP:0040116 skos:exactMatch MP:0004541 semapv:LexicalMatching Aplasia of the Eustachian tube absent auditory tube -HP:0000347 skos:exactMatch MP:0004592 semapv:LexicalMatching Micrognathia small mandible -HP:0002948 skos:exactMatch MP:0004609 semapv:LexicalMatching Vertebral fusion vertebral fusion -HP:0008479 skos:exactMatch MP:0004610 semapv:LexicalMatching Hypoplastic vertebral bodies small vertebrae -HP:0002948 skos:exactMatch MP:0004612 semapv:LexicalMatching Vertebral fusion fusion of vertebral bodies -HP:0002953 skos:exactMatch MP:0004626 semapv:LexicalMatching Vertebral compression fractures vertebral compression -HP:0030304 skos:exactMatch MP:0004643 semapv:LexicalMatching Abnormal number of vertebrae abnormal vertebrae number -HP:0100891 skos:exactMatch MP:0004678 semapv:LexicalMatching Bifid xiphoid process split xiphoid process -HP:0009900 skos:exactMatch MP:0004699 semapv:LexicalMatching Unilateral deafness unilateral deafness -HP:0500166 skos:exactMatch MP:0004730 semapv:LexicalMatching Abnormal circulating gastrin level abnormal circulating gastrin level -HP:0000405 skos:exactMatch MP:0004739 semapv:LexicalMatching Conductive hearing impairment conductive hearing loss -HP:0000407 skos:exactMatch MP:0004740 semapv:LexicalMatching Sensorineural hearing impairment sensorineural hearing loss -HP:0000410 skos:exactMatch MP:0004741 semapv:LexicalMatching Mixed hearing impairment mixed hearing loss -HP:0006560 skos:exactMatch MP:0004839 semapv:LexicalMatching Biliary hyperplasia bile duct hyperplasia -HP:0007670 skos:exactMatch MP:0004844 semapv:LexicalMatching Abnormal vestibulo-ocular reflex abnormal vestibuloocular reflex -HP:0012114 skos:exactMatch MP:0004868 semapv:LexicalMatching Endometrial carcinoma increased endometrial carcinoma incidence -HP:0010650 skos:exactMatch MP:0004870 semapv:LexicalMatching Hypoplasia of the premaxilla small premaxilla -HP:0005273 skos:exactMatch MP:0004872 semapv:LexicalMatching Absent nasal septal cartilage absent nasal septum -HP:0030684 skos:exactMatch MP:0004891 semapv:LexicalMatching Abnormal adiponectin level abnormal adiponectin level -HP:0030686 skos:exactMatch MP:0004892 semapv:LexicalMatching Increased adiponectin level increased adiponectin level -HP:0030685 skos:exactMatch MP:0004893 semapv:LexicalMatching Decreased adiponectin level decreased adiponectin level -HP:0000362 skos:exactMatch MP:0004897 semapv:LexicalMatching Otosclerosis otosclerosis -HP:0011123 skos:exactMatch MP:0004947 semapv:LexicalMatching Inflammatory abnormality of the skin skin inflammation -HP:0002797 skos:exactMatch MP:0004992 semapv:LexicalMatching Osteolysis increased bone resorption -HP:0001880 skos:exactMatch MP:0005011 semapv:LexicalMatching Eosinophilia increased eosinophil cell number -HP:0031891 skos:exactMatch MP:0005012 semapv:LexicalMatching Decreased eosinophil count decreased eosinophil cell number -HP:0100827 skos:exactMatch MP:0005013 semapv:LexicalMatching Lymphocytosis increased lymphocyte cell number -HP:0001888 skos:exactMatch MP:0005016 semapv:LexicalMatching Lymphopenia decreased lymphocyte cell number -HP:0100806 skos:exactMatch MP:0005044 semapv:LexicalMatching Sepsis sepsis -HP:0001977 skos:exactMatch MP:0005048 semapv:LexicalMatching Abnormal thrombosis abnormal thrombosis -HP:0001879 skos:exactMatch MP:0005061 semapv:LexicalMatching Abnormal eosinophil morphology abnormal eosinophil morphology -HP:0012437 skos:exactMatch MP:0005084 semapv:LexicalMatching Abnormal gallbladder morphology abnormal gallbladder morphology -HP:0031379 skos:exactMatch MP:0005094 semapv:LexicalMatching Abnormal T cell proliferation abnormal T cell proliferation -HP:0000610 skos:exactMatch MP:0005098 semapv:LexicalMatching Abnormal choroid morphology abnormal optic choroid morphology -HP:0008034 skos:exactMatch MP:0005102 semapv:LexicalMatching Abnormal iris pigmentation abnormal iris pigmentation -HP:0000870 skos:exactMatch MP:0005124 semapv:LexicalMatching Increased circulating prolactin concentration increased circulating prolactin level -HP:0031098 skos:exactMatch MP:0005134 semapv:LexicalMatching Decreased thyroid-stimulating hormone level decreased thyroid-stimulating hormone level -HP:0002925 skos:exactMatch MP:0005135 semapv:LexicalMatching Increased thyroid-stimulating hormone level increased thyroid-stimulating hormone level -HP:0031380 skos:exactMatch MP:0005153 semapv:LexicalMatching Abnormal B cell proliferation abnormal B cell proliferation -HP:0002067 skos:exactMatch MP:0005156 semapv:LexicalMatching Bradykinesia bradykinesia -HP:0001360 skos:exactMatch MP:0005157 semapv:LexicalMatching Holoprosencephaly holoprosencephaly -HP:0000027 skos:exactMatch MP:0005159 semapv:LexicalMatching Azoospermia azoospermia -HP:0000790 skos:exactMatch MP:0005161 semapv:LexicalMatching Hematuria hematuria -HP:0031189 skos:exactMatch MP:0005162 semapv:LexicalMatching Wrist drop carpoptosis -HP:0009914 skos:exactMatch MP:0005163 semapv:LexicalMatching Cyclopia cyclopia -HP:0000204 skos:exactMatch MP:0005170 semapv:LexicalMatching Cleft upper lip cleft upper lip -HP:0031212 skos:exactMatch MP:0005184 semapv:LexicalMatching Abnormal circulating progesterone level abnormal circulating progesterone level -HP:0000054 skos:exactMatch MP:0005188 semapv:LexicalMatching Micropenis small penis -HP:0030260 skos:exactMatch MP:0005188 semapv:LexicalMatching Microphallus small penis -HP:0002754 skos:exactMatch MP:0005190 semapv:LexicalMatching Osteomyelitis osteomyelitis -HP:0000553 skos:exactMatch MP:0005197 semapv:LexicalMatching Abnormal uvea morphology abnormal uvea morphology -HP:0001254 skos:exactMatch MP:0005202 semapv:LexicalMatching Lethargy lethargy -HP:0012630 skos:exactMatch MP:0005203 semapv:LexicalMatching Abnormal trabecular meshwork morphology abnormal trabecular meshwork morphology -HP:0100257 skos:exactMatch MP:0005230 semapv:LexicalMatching Ectrodactyly ectrodactyly -HP:0001126 skos:exactMatch MP:0005242 semapv:LexicalMatching Cryptophthalmos cryptophthalmos -HP:0012151 skos:exactMatch MP:0005243 semapv:LexicalMatching Hemothorax hemothorax -HP:0011851 skos:exactMatch MP:0005244 semapv:LexicalMatching Hemopericardium hemopericardium -HP:0000498 skos:exactMatch MP:0005251 semapv:LexicalMatching Blepharitis blepharitis -HP:0000486 skos:exactMatch MP:0005254 semapv:LexicalMatching Strabismus strabismus -HP:0000577 skos:exactMatch MP:0005255 semapv:LexicalMatching Exotropia exotropia -HP:0000565 skos:exactMatch MP:0005256 semapv:LexicalMatching Esotropia esotropia -HP:0012632 skos:exactMatch MP:0005257 semapv:LexicalMatching Abnormal intraocular pressure abnormal intraocular pressure -HP:0007906 skos:exactMatch MP:0005258 semapv:LexicalMatching Ocular hypertension ocular hypertension -HP:0000589 skos:exactMatch MP:0005262 semapv:LexicalMatching Coloboma coloboma -HP:0000096 skos:exactMatch MP:0005264 semapv:LexicalMatching Glomerulosclerosis glomerulosclerosis -HP:0009911 skos:exactMatch MP:0005272 semapv:LexicalMatching Abnormal temporal bone morphology abnormal temporal bone morphology -HP:0002508 skos:exactMatch MP:0005277 semapv:LexicalMatching Brainstem dysplasia abnormal brainstem morphology -HP:0003107 skos:exactMatch MP:0005278 semapv:LexicalMatching Abnormal circulating cholesterol concentration abnormal cholesterol homeostasis -HP:0030050 skos:exactMatch MP:0005279 semapv:LexicalMatching Narcolepsy narcolepsy -HP:0000581 skos:exactMatch MP:0005287 semapv:LexicalMatching Blepharophimosis narrow eye opening -HP:0001952 skos:exactMatch MP:0005293 semapv:LexicalMatching Glucose intolerance impaired glucose tolerance -HP:0040270 skos:exactMatch MP:0005293 semapv:LexicalMatching Impaired glucose tolerance impaired glucose tolerance -HP:0031095 skos:exactMatch MP:0005296 semapv:LexicalMatching Abnormal humerus morphology abnormal humerus morphology -HP:0003298 skos:exactMatch MP:0005297 semapv:LexicalMatching Spina bifida occulta spina bifida occulta -HP:0000011 skos:exactMatch MP:0005302 semapv:LexicalMatching Neurogenic bladder neurogenic bladder -HP:0001698 skos:exactMatch MP:0005312 semapv:LexicalMatching Pericardial effusion pericardial effusion -HP:0010626 skos:exactMatch MP:0005315 semapv:LexicalMatching Anterior pituitary agenesis absent pituitary gland -HP:0001332 skos:exactMatch MP:0005323 semapv:LexicalMatching Dystonia dystonia -HP:0001541 skos:exactMatch MP:0005324 semapv:LexicalMatching Ascites ascites -HP:0012100 skos:exactMatch MP:0005328 semapv:LexicalMatching Abnormal circulating creatinine level abnormal circulating creatinine level -HP:0001662 skos:exactMatch MP:0005333 semapv:LexicalMatching Bradycardia decreased heart rate -HP:0012112 skos:exactMatch MP:0005345 semapv:LexicalMatching Abnormal circulating corticosterone level abnormal circulating corticosterone level -HP:0000252 skos:exactMatch MP:0005352 semapv:LexicalMatching Microcephaly small cranium -HP:0003045 skos:exactMatch MP:0005353 semapv:LexicalMatching Abnormal patella morphology abnormal patella morphology -HP:0040129 skos:exactMatch MP:0005403 semapv:LexicalMatching Abnormal nerve conduction velocity abnormal nerve conduction -HP:0040078 skos:exactMatch MP:0005405 semapv:LexicalMatching Axonal degeneration axon degeneration -HP:0031005 skos:exactMatch MP:0005407 semapv:LexicalMatching Hyperalgesia hyperalgesia -HP:0001010 skos:exactMatch MP:0005408 semapv:LexicalMatching Hypopigmentation of the skin hypopigmentation -HP:0012334 skos:exactMatch MP:0005414 semapv:LexicalMatching Extrahepatic cholestasis extrahepatic cholestasis -HP:0001406 skos:exactMatch MP:0005415 semapv:LexicalMatching Intrahepatic cholestasis intrahepatic cholestasis -HP:0010876 skos:exactMatch MP:0005416 semapv:LexicalMatching Abnormal circulating protein level abnormal circulating protein level -HP:0000973 skos:exactMatch MP:0005421 semapv:LexicalMatching Cutis laxa loose skin -HP:0011001 skos:exactMatch MP:0005422 semapv:LexicalMatching Increased bone mineral density osteosclerosis -HP:0002789 skos:exactMatch MP:0005426 semapv:LexicalMatching Tachypnea tachypnea -HP:0011854 skos:exactMatch MP:0005435 semapv:LexicalMatching Hemoperitoneum hemoperitoneum -HP:0031508 skos:exactMatch MP:0005468 semapv:LexicalMatching Abnormal thyroid hormone level abnormal thyroid hormone level -HP:0031505 skos:exactMatch MP:0005475 semapv:LexicalMatching Abnormal circulating thyroxine level abnormal circulating thyroxine level -HP:0031506 skos:exactMatch MP:0005477 semapv:LexicalMatching Increased circulating thyroxine level increased circulating thyroxine level -HP:0031507 skos:exactMatch MP:0005478 semapv:LexicalMatching Decreased circulating thyroxine level decreased circulating thyroxine level -HP:0005506 skos:exactMatch MP:0005481 semapv:LexicalMatching Chronic myelogenous leukemia increased chronic myelocytic leukemia incidence -HP:0001894 skos:exactMatch MP:0005505 semapv:LexicalMatching Thrombocytosis thrombocytosis -HP:0000554 skos:exactMatch MP:0005515 semapv:LexicalMatching Uveitis uveitis -HP:0012214 skos:exactMatch MP:0005527 semapv:LexicalMatching Increased glomerular filtration rate increased renal glomerular filtration rate -HP:0012213 skos:exactMatch MP:0005528 semapv:LexicalMatching Decreased glomerular filtration rate decreased renal glomerular filtration rate -HP:0002045 skos:exactMatch MP:0005534 semapv:LexicalMatching Hypothermia decreased body temperature -HP:0011496 skos:exactMatch MP:0005542 semapv:LexicalMatching Corneal neovascularization corneal vascularization -HP:0000531 skos:exactMatch MP:0005544 semapv:LexicalMatching Corneal crystals corneal deposits -HP:0011506 skos:exactMatch MP:0005546 semapv:LexicalMatching Choroidal neovascularization choroidal neovascularization -HP:0012213 skos:exactMatch MP:0005558 semapv:LexicalMatching Decreased glomerular filtration rate decreased creatinine clearance -HP:0025548 skos:exactMatch MP:0005561 semapv:LexicalMatching Increased mean corpuscular hemoglobin concentration increased mean corpuscular hemoglobin -HP:0032231 skos:exactMatch MP:0005562 semapv:LexicalMatching Hypochromia decreased mean corpuscular hemoglobin -HP:0031969 skos:exactMatch MP:0005566 semapv:LexicalMatching Reduced blood urea nitrogen decreased blood urea nitrogen level -HP:0002152 skos:exactMatch MP:0005568 semapv:LexicalMatching Hyperproteinemia increased circulating total protein level -HP:0012864 skos:exactMatch MP:0005578 semapv:LexicalMatching Abnormal sperm morphology teratozoospermia -HP:0012379 skos:exactMatch MP:0005584 semapv:LexicalMatching Abnormal enzyme/coenzyme activity abnormal enzyme/coenzyme activity -HP:0003010 skos:exactMatch MP:0005606 semapv:LexicalMatching Prolonged bleeding time increased bleeding time -HP:0025546 skos:exactMatch MP:0005640 semapv:LexicalMatching Abnormal mean corpuscular hemoglobin concentration abnormal mean corpuscular hemoglobin concentration -HP:0025548 skos:exactMatch MP:0005641 semapv:LexicalMatching Increased mean corpuscular hemoglobin concentration increased mean corpuscular hemoglobin concentration -HP:0025547 skos:exactMatch MP:0005642 semapv:LexicalMatching Decreased mean corpuscular hemoglobin concentration decreased mean corpuscular hemoglobin concentration -HP:0012245 skos:exactMatch MP:0005652 semapv:LexicalMatching Sex reversal sex reversal -HP:0002269 skos:exactMatch MP:0006009 semapv:LexicalMatching Abnormality of neuronal migration abnormal neuronal migration -HP:0002206 skos:exactMatch MP:0006050 semapv:LexicalMatching Pulmonary fibrosis pulmonary fibrosis -HP:0011536 skos:exactMatch MP:0006061 semapv:LexicalMatching Right atrial isomerism right atrial isomerism -HP:0000023 skos:exactMatch MP:0006077 semapv:LexicalMatching Inguinal hernia inguinal hernia -HP:0004404 skos:exactMatch MP:0006078 semapv:LexicalMatching Abnormal nipple morphology abnormal nipple morphology -HP:0001700 skos:exactMatch MP:0006085 semapv:LexicalMatching Myocardial necrosis myocardium necrosis -HP:0045082 skos:exactMatch MP:0006086 semapv:LexicalMatching Decreased body mass index decreased body mass index -HP:0031418 skos:exactMatch MP:0006087 semapv:LexicalMatching Increased body mass index increased body mass index -HP:0030999 skos:exactMatch MP:0006089 semapv:LexicalMatching Abnormal vestibular saccule morphology abnormal vestibular saccule morphology -HP:0004947 skos:exactMatch MP:0006093 semapv:LexicalMatching Arteriovenous fistula arteriovenous malformation -HP:0030759 skos:exactMatch MP:0006094 semapv:LexicalMatching Adipocyte hypertrophy increased fat cell size -HP:0001663 skos:exactMatch MP:0006110 semapv:LexicalMatching Ventricular fibrillation ventricular fibrillation -HP:0001681 skos:exactMatch MP:0006112 semapv:LexicalMatching Angina pectoris angina -HP:0030148 skos:exactMatch MP:0006114 semapv:LexicalMatching Heart murmur cardiac murmur -HP:0025578 skos:exactMatch MP:0006118 semapv:LexicalMatching Aortic valve prolapse aortic valve prolapse -HP:0011560 skos:exactMatch MP:0006119 semapv:LexicalMatching Mitral atresia mitral valve atresia -HP:0011662 skos:exactMatch MP:0006123 semapv:LexicalMatching Tricuspid atresia tricuspid valve atresia -HP:0010446 skos:exactMatch MP:0006124 semapv:LexicalMatching Tricuspid stenosis tricuspid valve stenosis -HP:0025324 skos:exactMatch MP:0006134 semapv:LexicalMatching Arterial occlusion artery occlusion -HP:0002619 skos:exactMatch MP:0006136 semapv:LexicalMatching Varicose veins varicose veins -HP:0001635 skos:exactMatch MP:0006138 semapv:LexicalMatching Congestive heart failure congestive heart failure -HP:0000622 skos:exactMatch MP:0006149 semapv:LexicalMatching Blurred vision decreased visual acuity -HP:0007663 skos:exactMatch MP:0006149 semapv:LexicalMatching Reduced visual acuity decreased visual acuity -HP:0000651 skos:exactMatch MP:0006150 semapv:LexicalMatching Diplopia double vision -HP:0000540 skos:exactMatch MP:0006153 semapv:LexicalMatching Hypermetropia hypermetropia -HP:0001107 skos:exactMatch MP:0006159 semapv:LexicalMatching Ocular albinism ocular albinism -HP:0030939 skos:exactMatch MP:0006162 semapv:LexicalMatching Palpebral thickening thick eyelids -HP:0000621 skos:exactMatch MP:0006165 semapv:LexicalMatching Entropion entropion -HP:0500043 skos:exactMatch MP:0006166 semapv:LexicalMatching Eyelid retraction eyelid retraction -HP:0000537 skos:exactMatch MP:0006168 semapv:LexicalMatching Epicanthus inversus epicanthus inversus -HP:0001096 skos:exactMatch MP:0006194 semapv:LexicalMatching Keratoconjunctivitis keratoconjunctivitis -HP:0000490 skos:exactMatch MP:0006198 semapv:LexicalMatching Deeply set eye enophthalmos -HP:0025586 skos:exactMatch MP:0006199 semapv:LexicalMatching Hypertropia hypertropia -HP:0032479 skos:exactMatch MP:0006204 semapv:LexicalMatching Preimplantation lethality embryonic lethality before implantation -HP:0007807 skos:exactMatch MP:0006220 semapv:LexicalMatching Optic nerve compression optic nerve compression -HP:0000538 skos:exactMatch MP:0006223 semapv:LexicalMatching Pseudopapilledema optic nerve swelling -HP:0001085 skos:exactMatch MP:0006223 semapv:LexicalMatching Papilledema optic nerve swelling -HP:0000657 skos:exactMatch MP:0006224 semapv:LexicalMatching Oculomotor apraxia oculomotor apraxia -HP:0011500 skos:exactMatch MP:0006235 semapv:LexicalMatching Polycoria polycoria -HP:0009916 skos:exactMatch MP:0006240 semapv:LexicalMatching Anisocoria anisocoria -HP:0009918 skos:exactMatch MP:0006241 semapv:LexicalMatching Ectopia pupillae abnormal placement of pupils -HP:0000555 skos:exactMatch MP:0006242 semapv:LexicalMatching Leukocoria white pupil -HP:0000643 skos:exactMatch MP:0006244 semapv:LexicalMatching Blepharospasm eyelid muscle spasm -HP:0031786 skos:exactMatch MP:0006244 semapv:LexicalMatching Cogan lid twitch eyelid muscle spasm -HP:0012019 skos:exactMatch MP:0006245 semapv:LexicalMatching Lens luxation dislocated lens -HP:0000667 skos:exactMatch MP:0006249 semapv:LexicalMatching Phthisis bulbi phthisis bulbi -HP:0030084 skos:exactMatch MP:0006253 semapv:LexicalMatching Clinodactyly clinodactyly -HP:0001734 skos:exactMatch MP:0006261 semapv:LexicalMatching Annular pancreas annular pancreas -HP:0500104 skos:exactMatch MP:0006263 semapv:LexicalMatching Decreased diastolic blood pressure decreased systemic arterial diastolic blood pressure -HP:0500105 skos:exactMatch MP:0006264 semapv:LexicalMatching Decreased systolic blood pressure decreased systemic arterial systolic blood pressure -HP:0004942 skos:exactMatch MP:0006278 semapv:LexicalMatching Aortic aneurysm aortic aneurysm -HP:0012806 skos:exactMatch MP:0006290 semapv:LexicalMatching Proboscis proboscis -HP:0007268 skos:exactMatch MP:0006291 semapv:LexicalMatching Aprosencephaly aprosencephaly -HP:0001166 skos:exactMatch MP:0006296 semapv:LexicalMatching Arachnodactyly arachnodactyly -HP:0020119 skos:exactMatch MP:0006303 semapv:LexicalMatching Abnormal retinal nerve fiber layer morphology abnormal retinal nerve fiber layer morphology -HP:0020129 skos:exactMatch MP:0006315 semapv:LexicalMatching Abnormal urine protein level abnormal urine protein level -HP:0000405 skos:exactMatch MP:0006326 semapv:LexicalMatching Conductive hearing impairment conductive hearing impairment -HP:0000410 skos:exactMatch MP:0006327 semapv:LexicalMatching Mixed hearing impairment mixed hearing impairment -HP:0000407 skos:exactMatch MP:0006329 semapv:LexicalMatching Sensorineural hearing impairment sensorineural hearing impairment -HP:0030869 skos:exactMatch MP:0006415 semapv:LexicalMatching Anorchism absent testes -HP:0100615 skos:exactMatch MP:0008000 semapv:LexicalMatching Ovarian neoplasm increased ovary tumor incidence -HP:0032448 skos:exactMatch MP:0008003 semapv:LexicalMatching Achlorhydria achlorhydria -HP:0200008 skos:exactMatch MP:0008011 semapv:LexicalMatching Intestinal polyposis intestine polyps -HP:0004783 skos:exactMatch MP:0008012 semapv:LexicalMatching Duodenal polyposis duodenum polyps -HP:0031871 skos:exactMatch MP:0008117 semapv:LexicalMatching Abnormal Langerhans cell morphology abnormal Langerhans cell morphology -HP:0031266 skos:exactMatch MP:0008140 semapv:LexicalMatching Podocyte foot process effacement podocyte foot process effacement -HP:0000662 skos:exactMatch MP:0008144 semapv:LexicalMatching Nyctalopia nyctalopia -HP:0012047 skos:exactMatch MP:0008145 semapv:LexicalMatching Hemeralopia hemeralopia -HP:0003100 skos:exactMatch MP:0008150 semapv:LexicalMatching Slender long bone decreased diameter of long bones -HP:0031107 skos:exactMatch MP:0008153 semapv:LexicalMatching Decreased fibular diameter decreased diameter of fibula -HP:0012107 skos:exactMatch MP:0008159 semapv:LexicalMatching Increased fibular diameter increased diameter of fibula -HP:0001881 skos:exactMatch MP:0008246 semapv:LexicalMatching Abnormal leukocyte morphology abnormal leukocyte morphology -HP:0011849 skos:exactMatch MP:0008271 semapv:LexicalMatching Abnormal bone ossification abnormal bone ossification -HP:0012790 skos:exactMatch MP:0008273 semapv:LexicalMatching Abnormal intramembranous ossification abnormal intramembranous bone ossification -HP:0100961 skos:exactMatch MP:0008282 semapv:LexicalMatching Enlarged hippocampus enlarged hippocampus -HP:0025517 skos:exactMatch MP:0008283 semapv:LexicalMatching Hypoplastic hippocampus small hippocampus -HP:0001931 skos:exactMatch MP:0008387 semapv:LexicalMatching Hypochromic anemia hypochromic anemia -HP:0004840 skos:exactMatch MP:0008388 semapv:LexicalMatching Hypochromic microcytic anemia hypochromic microcytic anemia -HP:0030334 skos:exactMatch MP:0008397 semapv:LexicalMatching "Abnormal CD4-positive CD25-positive alpha-beta regulatory T cell morphology" "abnormal CD4-positive CD25-positive alpha-beta regulatory T cell morphology" -HP:0025082 skos:exactMatch MP:0008418 semapv:LexicalMatching Abnormal cutaneous elastic fiber morphology abnormal cutaneous elastic fiber morphology -HP:0031512 skos:exactMatch MP:0008438 semapv:LexicalMatching Abnormal cutaneous collagen fibril morphology abnormal cutaneous collagen fibril morphology -HP:0011537 skos:exactMatch MP:0008461 semapv:LexicalMatching Left atrial isomerism left atrial isomerism -HP:0006956 skos:exactMatch MP:0008535 semapv:LexicalMatching Dilation of lateral ventricles enlarged lateral ventricles -HP:0005110 skos:exactMatch MP:0008543 semapv:LexicalMatching Atrial fibrillation atrial fibrillation -HP:0004409 skos:exactMatch MP:0008544 semapv:LexicalMatching Hyposmia impaired olfaction -HP:0010633 skos:exactMatch MP:0008544 semapv:LexicalMatching Partial anosmia impaired olfaction -HP:0032558 skos:exactMatch MP:0008545 semapv:LexicalMatching Absent sperm flagella absent sperm flagellum -HP:0040238 skos:exactMatch MP:0008720 semapv:LexicalMatching Impaired neutrophil chemotaxis impaired neutrophil chemotaxis -HP:0002983 skos:exactMatch MP:0008736 semapv:LexicalMatching Micromelia micromelia -HP:0040134 skos:exactMatch MP:0008738 semapv:LexicalMatching Abnormal hepatic iron concentration abnormal liver iron level -HP:0030770 skos:exactMatch MP:0008784 semapv:LexicalMatching Craniorachischisis craniorachischisis -HP:0100731 skos:exactMatch MP:0008798 semapv:LexicalMatching Transverse facial cleft lateral facial cleft -HP:0410282 skos:exactMatch MP:0008804 semapv:LexicalMatching Abnormal circulating amylase level abnormal circulating amylase level -HP:0410289 skos:exactMatch MP:0008805 semapv:LexicalMatching Hypoamylasemia decreased circulating amylase level -HP:0410288 skos:exactMatch MP:0008806 semapv:LexicalMatching Hyperamylasemia increased circulating amylase level -HP:0000762 skos:exactMatch MP:0008814 semapv:LexicalMatching Decreased nerve conduction velocity decreased nerve conduction velocity -HP:0030855 skos:exactMatch MP:0008815 semapv:LexicalMatching Anterior staphyloma anterior staphyloma -HP:0000967 skos:exactMatch MP:0008816 semapv:LexicalMatching Petechiae petechiae -HP:0002937 skos:exactMatch MP:0008832 semapv:LexicalMatching Hemivertebrae hemivertebra -HP:0030666 skos:exactMatch MP:0008852 semapv:LexicalMatching Retinal neovascularization retinal neovascularization -HP:0004484 skos:exactMatch MP:0008863 semapv:LexicalMatching Craniofacial asymmetry craniofacial asymmetry -HP:0009702 skos:exactMatch MP:0008915 semapv:LexicalMatching Carpal synostosis fused carpal bones -HP:0005537 skos:exactMatch MP:0008935 semapv:LexicalMatching Decreased mean platelet volume decreased mean platelet volume -HP:0004857 skos:exactMatch MP:0008945 semapv:LexicalMatching Hyperchromic macrocytic anemia hyperchromic macrocytic anemia -HP:0004756 skos:exactMatch MP:0008950 semapv:LexicalMatching Ventricular tachycardia ventricular tachycardia -HP:0030146 skos:exactMatch MP:0008986 semapv:LexicalMatching Abnormal liver parenchyma morphology abnormal liver parenchyma morphology -HP:0002023 skos:exactMatch MP:0008999 semapv:LexicalMatching Anal atresia absent anus -HP:0012386 skos:exactMatch MP:0009001 semapv:LexicalMatching Absent hallux absent hallux -HP:0012703 skos:exactMatch MP:0009027 semapv:LexicalMatching Abnormal subarachnoid space morphology abnormal subarachnoid space morphology -HP:0025246 skos:exactMatch MP:0009042 semapv:LexicalMatching Trichilemmal cyst pilar cyst -HP:0002380 skos:exactMatch MP:0009046 semapv:LexicalMatching Fasciculations muscle twitch -HP:0012673 skos:exactMatch MP:0009072 semapv:LexicalMatching Aplasia of the upper vagina absent cranial vagina -HP:0012094 skos:exactMatch MP:0009106 semapv:LexicalMatching Abnormal pancreas size abnormal pancreas size -HP:0002894 skos:exactMatch MP:0009153 semapv:LexicalMatching Neoplasm of the pancreas increased pancreas tumor incidence -HP:0010461 skos:exactMatch MP:0009198 semapv:LexicalMatching Abnormality of the male genitalia abnormal male genitalia morphology -HP:0010784 skos:exactMatch MP:0009222 semapv:LexicalMatching Uterine neoplasm increased uterus tumor incidence -HP:0030160 skos:exactMatch MP:0009228 semapv:LexicalMatching Cervicitis uterine cervix inflammation -HP:0003270 skos:exactMatch MP:0009247 semapv:LexicalMatching Abdominal distention meteorism -HP:0000557 skos:exactMatch MP:0009274 semapv:LexicalMatching Buphthalmos buphthalmos -HP:0031364 skos:exactMatch MP:0009276 semapv:LexicalMatching Ecchymosis ecchymosis -HP:0006771 skos:exactMatch MP:0009311 semapv:LexicalMatching Duodenal adenocarcinoma increased duodenum adenocarcinoma incidence -HP:0030439 skos:exactMatch MP:0009316 semapv:LexicalMatching Anal canal adenocarcinoma increased anal adenocarcinoma incidence -HP:0002213 skos:exactMatch MP:0009351 semapv:LexicalMatching Fine hair thin hair shaft -HP:0025636 skos:exactMatch MP:0009360 semapv:LexicalMatching Endometritis endometrium inflammation -HP:0020157 skos:exactMatch MP:0009375 semapv:LexicalMatching Thin zona pellucida thin zona pellucida -HP:0003687 skos:exactMatch MP:0009404 semapv:LexicalMatching Centrally nucleated skeletal muscle fibers centrally nucleated skeletal muscle fibers -HP:0003202 skos:exactMatch MP:0009417 semapv:LexicalMatching Skeletal muscle atrophy skeletal muscle atrophy -HP:0030951 skos:exactMatch MP:0009419 semapv:LexicalMatching Skeletal muscle fibrosis skeletal muscle fibrosis -HP:0002385 skos:exactMatch MP:0009434 semapv:LexicalMatching Paraparesis paraparesis -HP:0025274 skos:exactMatch MP:0009442 semapv:LexicalMatching Ovarian dermoid cyst increased ovarian teratoma incidence -HP:0003712 skos:exactMatch MP:0009461 semapv:LexicalMatching Skeletal muscle hypertrophy skeletal muscle hypertrophy -HP:0031111 skos:exactMatch MP:0009469 semapv:LexicalMatching Cutaneous hamartoma increased skin hamartoma incidence -HP:0032564 skos:exactMatch MP:0009482 semapv:LexicalMatching Ileitis ileum inflammation -HP:0030075 skos:exactMatch MP:0009508 semapv:LexicalMatching Ductal carcinoma in situ increased mammary gland ductal carcinoma incidence -HP:0030187 skos:exactMatch MP:0009514 semapv:LexicalMatching Titubation titubation -HP:0004445 skos:exactMatch MP:0009547 semapv:LexicalMatching Elliptocytosis elliptocytosis -HP:0030402 skos:exactMatch MP:0009548 semapv:LexicalMatching Abnormal platelet aggregation abnormal platelet aggregation -HP:0003540 skos:exactMatch MP:0009549 semapv:LexicalMatching Impaired platelet aggregation decreased platelet aggregation -HP:0025114 skos:exactMatch MP:0009600 semapv:LexicalMatching Hypergranulosis hypergranulosis -HP:0012585 skos:exactMatch MP:0009641 semapv:LexicalMatching Renal atrophy kidney degeneration -HP:0002157 skos:exactMatch MP:0009644 semapv:LexicalMatching Azotemia uremia -HP:0020074 skos:exactMatch MP:0009645 semapv:LexicalMatching Crystalluria crystalluria -HP:0100577 skos:exactMatch MP:0009646 semapv:LexicalMatching Urinary bladder inflammation urinary bladder inflammation -HP:0031456 skos:exactMatch MP:0009668 semapv:LexicalMatching Ectopic pregnancy ectopic pregnancy -HP:0025080 skos:exactMatch MP:0009675 semapv:LexicalMatching Orthokeratotic hyperkeratosis orthokeratosis -HP:0040162 skos:exactMatch MP:0009675 semapv:LexicalMatching Orthokeratosis orthokeratosis -HP:0012238 skos:exactMatch MP:0009699 semapv:LexicalMatching Increased circulating chylomicron concentration hyperchylomicronemia -HP:0000413 skos:exactMatch MP:0009707 semapv:LexicalMatching Atresia of the external auditory canal absent external auditory canal -HP:0012154 skos:exactMatch MP:0009710 semapv:LexicalMatching Anhedonia anhedonia -HP:0100258 skos:exactMatch MP:0009743 semapv:LexicalMatching Preaxial polydactyly preaxial polydactyly -HP:0100259 skos:exactMatch MP:0009744 semapv:LexicalMatching Postaxial polydactyly postaxial polydactyly -HP:0001051 skos:exactMatch MP:0009792 semapv:LexicalMatching Seborrheic dermatitis seborrheic dermatitis -HP:0012804 skos:exactMatch MP:0009825 semapv:LexicalMatching Corneal ulceration cornea ulcer -HP:0032156 skos:exactMatch MP:0009827 semapv:LexicalMatching Skin detachment skin detachment -HP:0002578 skos:exactMatch MP:0009854 semapv:LexicalMatching Gastroparesis impaired gastric peristalsis -HP:0011800 skos:exactMatch MP:0009855 semapv:LexicalMatching Midface retrusion midface retrusion -HP:0009741 skos:exactMatch MP:0009860 semapv:LexicalMatching Nephrosclerosis nephrosclerosis -HP:0031784 skos:exactMatch MP:0009867 semapv:LexicalMatching Abnormal ascending aorta morphology abnormal ascending aorta morphology -HP:0031934 skos:exactMatch MP:0009869 semapv:LexicalMatching Abnormal descending aorta morphology abnormal descending aorta morphology -HP:0000160 skos:exactMatch MP:0009880 semapv:LexicalMatching Narrow mouth microstomia -HP:0000154 skos:exactMatch MP:0009881 semapv:LexicalMatching Wide mouth macrostomia -HP:0000171 skos:exactMatch MP:0009904 semapv:LexicalMatching Microglossia tongue hypoplasia -HP:0012730 skos:exactMatch MP:0009905 semapv:LexicalMatching Aglossia absent tongue -HP:0010297 skos:exactMatch MP:0009910 semapv:LexicalMatching Bifid tongue bifurcated tongue -HP:0002475 skos:exactMatch MP:0009929 semapv:LexicalMatching Myelomeningocele meningomyelocele -HP:0002213 skos:exactMatch MP:0009930 semapv:LexicalMatching Fine hair fuzzy hair -HP:0001045 skos:exactMatch MP:0010016 semapv:LexicalMatching Vitiligo variable depigmentation -HP:0012072 skos:exactMatch MP:0010028 semapv:LexicalMatching Aciduria aciduria -HP:0100588 skos:exactMatch MP:0010033 semapv:LexicalMatching Paraphimosis paraphimosis -HP:0012113 skos:exactMatch MP:0010063 semapv:LexicalMatching Abnormal circulating creatine concentration abnormal circulating creatine level -HP:0031965 skos:exactMatch MP:0010067 semapv:LexicalMatching Increased RBC distribution width increased red blood cell distribution width -HP:0004446 skos:exactMatch MP:0010074 semapv:LexicalMatching Stomatocytosis stomatocytosis -HP:0030431 skos:exactMatch MP:0010079 semapv:LexicalMatching Osteochondroma increased osteochondroma incidence -HP:0005107 skos:exactMatch MP:0010113 semapv:LexicalMatching Abnormal sacrum morphology abnormal sacrum morphology -HP:0011105 skos:exactMatch MP:0010127 semapv:LexicalMatching Hypervolemia hypervolemia -HP:0011106 skos:exactMatch MP:0010128 semapv:LexicalMatching Hypovolemia hypovolemia -HP:0012089 skos:exactMatch MP:0010138 semapv:LexicalMatching Arteritis arteritis -HP:0001537 skos:exactMatch MP:0010146 semapv:LexicalMatching Umbilical hernia umbilical hernia -HP:0001878 skos:exactMatch MP:0010163 semapv:LexicalMatching Hemolytic anemia hemolysis -HP:0032563 skos:exactMatch MP:0010176 semapv:LexicalMatching Dacryocytosis dacryocytosis -HP:0001927 skos:exactMatch MP:0010177 semapv:LexicalMatching Acanthocytosis acanthocytosis -HP:0045006 skos:exactMatch MP:0010194 semapv:LexicalMatching Aplasia of lymphatic vessels absent lymphatic vessels -HP:0031109 skos:exactMatch MP:0010249 semapv:LexicalMatching Agalactia lactation failure -HP:0000523 skos:exactMatch MP:0010251 semapv:LexicalMatching Subcapsular cataract subcapsular cataracts -HP:0025201 skos:exactMatch MP:0010331 semapv:LexicalMatching Abnormal apolipoprotein level abnormal apolipoprotein level -HP:0002202 skos:exactMatch MP:0010334 semapv:LexicalMatching Pleural effusion pleural effusion -HP:0005483 skos:exactMatch MP:0010371 semapv:LexicalMatching Abnormal epiglottis morphology abnormal epiglottis morphology -HP:0010445 skos:exactMatch MP:0010404 semapv:LexicalMatching Primum atrial septal defect ostium primum atrial septal defect -HP:0001684 skos:exactMatch MP:0010405 semapv:LexicalMatching Secundum atrial septal defect ostium secundum atrial septal defect -HP:0011565 skos:exactMatch MP:0010406 semapv:LexicalMatching Common atrium common atrium -HP:0011643 skos:exactMatch MP:0010407 semapv:LexicalMatching Coronary sinus atrial septal defect coronary sinus atrial septal defect -HP:0011567 skos:exactMatch MP:0010408 semapv:LexicalMatching Sinus venosus atrial septal defect sinus venosus atrial septal defect -HP:0010774 skos:exactMatch MP:0010409 semapv:LexicalMatching Cor triatriatum cor triatriatum -HP:0011566 skos:exactMatch MP:0010411 semapv:LexicalMatching Cor triatriatum dexter cor triatriatum dextrum -HP:0006695 skos:exactMatch MP:0010412 semapv:LexicalMatching Atrioventricular canal defect atrioventricular septal defect -HP:0001674 skos:exactMatch MP:0010413 semapv:LexicalMatching Complete atrioventricular canal defect complete atrioventricular septal defect -HP:0011577 skos:exactMatch MP:0010414 semapv:LexicalMatching Partial atrioventricular canal defect partial atrioventricular septal defect -HP:0011576 skos:exactMatch MP:0010415 semapv:LexicalMatching Intermediate atrioventricular canal defect intermediate atrioventricular septal defect -HP:0030958 skos:exactMatch MP:0010416 semapv:LexicalMatching Membranous ventricular septal aneurysm interventricular septum membranous part aneurysm -HP:0011681 skos:exactMatch MP:0010417 semapv:LexicalMatching Subarterial ventricular septal defect subarterial ventricular septal defect -HP:0011682 skos:exactMatch MP:0010418 semapv:LexicalMatching Perimembranous ventricular septal defect perimembraneous ventricular septal defect -HP:0011622 skos:exactMatch MP:0010419 semapv:LexicalMatching Inlet ventricular septal defect inlet ventricular septal defect -HP:0011623 skos:exactMatch MP:0010420 semapv:LexicalMatching Muscular ventricular septal defect muscular ventricular septal defect -HP:0011581 skos:exactMatch MP:0010427 semapv:LexicalMatching Double outlet left ventricle double outlet left ventricle -HP:0011719 skos:exactMatch MP:0010430 semapv:LexicalMatching Supracardiac total anomalous pulmonary venous connection "total anomalous pulmonary venous connection supracardiac" -HP:0011538 skos:exactMatch MP:0010431 semapv:LexicalMatching Atrial situs inversus atrial situs inversus -HP:0001750 skos:exactMatch MP:0010432 semapv:LexicalMatching Single ventricle common ventricle -HP:0011555 skos:exactMatch MP:0010433 semapv:LexicalMatching Double inlet left ventricle double inlet heart left ventricle -HP:0011556 skos:exactMatch MP:0010434 semapv:LexicalMatching Double inlet right ventricle double inlet heart right ventricle -HP:0005160 skos:exactMatch MP:0010441 semapv:LexicalMatching Total anomalous pulmonary venous return total anomalous pulmonary venous connection -HP:0010773 skos:exactMatch MP:0010442 semapv:LexicalMatching Partial anomalous pulmonary venous return partial anomalous pulmonary venous connection -HP:0011720 skos:exactMatch MP:0010443 semapv:LexicalMatching Cardiac total anomalous pulmonary venous connection "total anomalous pulmonary venous connection intracardiac" -HP:0011722 skos:exactMatch MP:0010445 semapv:LexicalMatching Mixed total anomalous pulmonary venous connection "total anomalous pulmonary venous connection mixed" -HP:0004383 skos:exactMatch MP:0010446 semapv:LexicalMatching Hypoplastic left heart heart left ventricle hypoplasia -HP:0011604 skos:exactMatch MP:0010455 semapv:LexicalMatching Aortopulmonary window aortopulmonary window -HP:0011660 skos:exactMatch MP:0010456 semapv:LexicalMatching Anomalous origin of one pulmonary artery from ascending aorta hemitruncus -HP:0004937 skos:exactMatch MP:0010462 semapv:LexicalMatching Pulmonary artery aneurysm pulmonary artery aneurysm -HP:0010775 skos:exactMatch MP:0010466 semapv:LexicalMatching Vascular ring vascular ring -HP:0004961 skos:exactMatch MP:0010467 semapv:LexicalMatching Pulmonary artery sling pulmonary artery sling -HP:0031935 skos:exactMatch MP:0010469 semapv:LexicalMatching Ascending aorta hypoplasia ascending aorta hypoplasia -HP:0004381 skos:exactMatch MP:0010471 semapv:LexicalMatching Supravalvular aortic stenosis supravalvar aortic stenosis -HP:0025495 skos:exactMatch MP:0010474 semapv:LexicalMatching Descending aorta hypoplasia descending aorta hypoplasia -HP:0011638 skos:exactMatch MP:0010475 semapv:LexicalMatching Anomalous origin of left coronary artery from the pulmonary artery anomalous pulmonary origin of left coronary artery -HP:0011641 skos:exactMatch MP:0010476 semapv:LexicalMatching Coronary artery fistula coronary fistula -HP:0030882 skos:exactMatch MP:0010477 semapv:LexicalMatching Coronary artery aneurysm coronary artery aneurysm -HP:0006548 skos:exactMatch MP:0010480 semapv:LexicalMatching Pulmonary arteriovenous malformation pulmonary arteriovenous malformation -HP:0031932 skos:exactMatch MP:0010481 semapv:LexicalMatching Aorto-left ventricular tunnel left ventricle to aorta tunnel -HP:0011645 skos:exactMatch MP:0010483 semapv:LexicalMatching Dilatation of the sinus of Valsalva aortic sinus aneurysm -HP:0003115 skos:exactMatch MP:0010508 semapv:LexicalMatching Abnormal EKG abnormal heart electrocardiography waveform feature -HP:0005165 skos:exactMatch MP:0010511 semapv:LexicalMatching Shortened PR interval shortened PR interval -HP:0001678 skos:exactMatch MP:0010519 semapv:LexicalMatching Atrioventricular block atrioventricular block -HP:0012723 skos:exactMatch MP:0010520 semapv:LexicalMatching Sinoatrial block sinoatrial block -HP:0004974 skos:exactMatch MP:0010525 semapv:LexicalMatching Coarctation of abdominal aorta abdominal aorta coarctation -HP:0006574 skos:exactMatch MP:0010529 semapv:LexicalMatching Hepatic arteriovenous malformation hepatic arteriovenous malformation -HP:0002408 skos:exactMatch MP:0010530 semapv:LexicalMatching Cerebral arteriovenous malformation cerebral arteriovenous malformation -HP:0002629 skos:exactMatch MP:0010531 semapv:LexicalMatching Gastrointestinal arteriovenous malformation gastrointestinal arteriovenous malformation -HP:0010316 skos:exactMatch MP:0010536 semapv:LexicalMatching Ebstein anomaly of the tricuspid valve Ebstein's malformation of tricuspid valve -HP:0012722 skos:exactMatch MP:0010559 semapv:LexicalMatching Heart block heart block -HP:0012561 skos:exactMatch MP:0010596 semapv:LexicalMatching Unicuspid aortic valve unicuspid aortic valve -HP:0031569 skos:exactMatch MP:0010597 semapv:LexicalMatching Absent aortic valve cusps absent aortic valve cusps -HP:0031566 skos:exactMatch MP:0010602 semapv:LexicalMatching Abnormal pulmonary valve cusp morphology abnormal pulmonary valve cusp morphology -HP:0001691 skos:exactMatch MP:0010612 semapv:LexicalMatching Muscular subvalvular aortic stenosis muscular subaortic stenosis -HP:0031480 skos:exactMatch MP:0010614 semapv:LexicalMatching Abnormal mitral valve leaflet morphology abnormal mitral valve cusp morphology -HP:0031443 skos:exactMatch MP:0010622 semapv:LexicalMatching Abnormal tricuspid valve leaflet morphology abnormal tricuspid valve cusp morphology -HP:0031834 skos:exactMatch MP:0010635 semapv:LexicalMatching Aortopulmonary collateral arteries aorta pulmonary collateral arteries -HP:0011710 skos:exactMatch MP:0010636 semapv:LexicalMatching Bundle branch block bundle branch block -HP:0001688 skos:exactMatch MP:0010637 semapv:LexicalMatching Sinus bradycardia sinus bradycardia -HP:0004959 skos:exactMatch MP:0010660 semapv:LexicalMatching Descending thoracic aorta aneurysm descending thoracic aorta aneurysm -HP:0007968 skos:exactMatch MP:0010711 semapv:LexicalMatching Remnants of the hyaloid vascular system persistent hyperplastic primary vitreous -HP:0000612 skos:exactMatch MP:0010714 semapv:LexicalMatching Iris coloboma iris coloboma -HP:0000480 skos:exactMatch MP:0010715 semapv:LexicalMatching Retinal coloboma retina coloboma -HP:0000588 skos:exactMatch MP:0010716 semapv:LexicalMatching Optic nerve coloboma optic disk coloboma -HP:0000588 skos:exactMatch MP:0010717 semapv:LexicalMatching Optic nerve coloboma optic nerve coloboma -HP:0020006 skos:exactMatch MP:0010719 semapv:LexicalMatching Ciliary body coloboma ciliary body coloboma -HP:0000270 skos:exactMatch MP:0010743 semapv:LexicalMatching Delayed cranial suture closure delayed cranial suture closure -HP:0000649 skos:exactMatch MP:0010748 semapv:LexicalMatching Abnormality of visual evoked potentials abnormal visual evoked potential -HP:0001172 skos:exactMatch MP:0010772 semapv:LexicalMatching Abnormal thumb morphology abnormal pollex morphology -HP:0002107 skos:exactMatch MP:0010822 semapv:LexicalMatching Pneumothorax pneumothorax -HP:0011616 skos:exactMatch MP:0010854 semapv:LexicalMatching Pulmonary situs inversus lung situs inversus -HP:0001511 skos:exactMatch MP:0010865 semapv:LexicalMatching Intrauterine growth retardation prenatal growth retardation -HP:0010450 skos:exactMatch MP:0010884 semapv:LexicalMatching Esophageal stenosis esophagus stenosis -HP:0012253 skos:exactMatch MP:0010942 semapv:LexicalMatching Abnormal respiratory epithelium morphology abnormal respiratory epithelium morphology -HP:0006517 skos:exactMatch MP:0010998 semapv:LexicalMatching Alveolar proteinosis pulmonary alveolar proteinosis -HP:0002110 skos:exactMatch MP:0011012 semapv:LexicalMatching Bronchiectasis bronchiectasis -HP:0410397 skos:exactMatch MP:0011013 semapv:LexicalMatching Bronchiolectasis bronchiolectasis -HP:0005938 skos:exactMatch MP:0011050 semapv:LexicalMatching Abnormal respiratory motile cilium morphology abnormal respiratory motile cilium morphology -HP:0012261 skos:exactMatch MP:0011055 semapv:LexicalMatching Abnormal respiratory motile cilium physiology abnormal respiratory motile cilium physiology -HP:0030895 skos:exactMatch MP:0011082 semapv:LexicalMatching Abnormal gastrointestinal motility abnormal gastrointestinal motility -HP:0031538 skos:exactMatch MP:0011159 semapv:LexicalMatching Abnormal dermoepidermal junction morphology abnormal epidermal-dermal junction morphology -HP:0012490 skos:exactMatch MP:0011164 semapv:LexicalMatching Panniculitis panniculitis -HP:0009125 skos:exactMatch MP:0011174 semapv:LexicalMatching Lipodystrophy lipodystrophy -HP:0000926 skos:exactMatch MP:0011175 semapv:LexicalMatching Platyspondyly platyspondylia -HP:0040126 skos:exactMatch MP:0011227 semapv:LexicalMatching Abnormal vitamin B12 level abnormal vitamin B12 level -HP:0003363 skos:exactMatch MP:0011249 semapv:LexicalMatching Abdominal situs inversus abdominal situs inversus -HP:0031565 skos:exactMatch MP:0011250 semapv:LexicalMatching Abdominal situs ambiguus abdominal situs ambiguus -HP:0001696 skos:exactMatch MP:0011252 semapv:LexicalMatching Situs inversus totalis situs inversus totalis -HP:0031592 skos:exactMatch MP:0011253 semapv:LexicalMatching Situs inversus with levocardia situs inversus with levocardia -HP:0032464 skos:exactMatch MP:0011298 semapv:LexicalMatching Ureteral hypoplasia ureter hypoplasia -HP:0000108 skos:exactMatch MP:0011308 semapv:LexicalMatching Renal corticomedullary cysts kidney corticomedullary cysts -HP:0008776 skos:exactMatch MP:0011317 semapv:LexicalMatching Abnormal renal artery morphology abnormal renal artery morphology -HP:0001967 skos:exactMatch MP:0011353 semapv:LexicalMatching Diffuse mesangial sclerosis expanded mesangial matrix -HP:0000125 skos:exactMatch MP:0011361 semapv:LexicalMatching Pelvic kidney pelvic kidney -HP:0012330 skos:exactMatch MP:0011403 semapv:LexicalMatching Pyelonephritis pyelonephritis -HP:0001970 skos:exactMatch MP:0011405 semapv:LexicalMatching Tubulointerstitial nephritis tubulointerstitial nephritis -HP:0012085 skos:exactMatch MP:0011420 semapv:LexicalMatching Pyuria pyuria -HP:0012615 skos:exactMatch MP:0011421 semapv:LexicalMatching Cylindruria cylindruria -HP:0012574 skos:exactMatch MP:0011427 semapv:LexicalMatching Mesangial hypercellularity mesangial cell hyperplasia -HP:0030762 skos:exactMatch MP:0011430 semapv:LexicalMatching Mesangiolysis mesangiolysis -HP:0031811 skos:exactMatch MP:0011464 semapv:LexicalMatching Bilirubinuria bilirubinuria -HP:0008155 skos:exactMatch MP:0011473 semapv:LexicalMatching Mucopolysacchariduria increased urine glycosaminoglycan level -HP:0011483 skos:exactMatch MP:0011481 semapv:LexicalMatching Anterior synechiae of the anterior chamber anterior iris synechia -HP:0000074 skos:exactMatch MP:0011491 semapv:LexicalMatching Ureteropelvic junction obstruction ureteropelvic junction obstruction -HP:0030735 skos:exactMatch MP:0011492 semapv:LexicalMatching Ureterovesical junction obstruction ureterovesical junction obstruction -HP:0000073 skos:exactMatch MP:0011493 semapv:LexicalMatching Ureteral duplication double ureter -HP:0006487 skos:exactMatch MP:0011505 semapv:LexicalMatching Bowing of the long bones camptomelia -HP:0000979 skos:exactMatch MP:0011515 semapv:LexicalMatching Purpura purpura -HP:0012068 skos:exactMatch MP:0011516 semapv:LexicalMatching Aspartylglucosaminuria aspartylglucosaminuria -HP:0100515 skos:exactMatch MP:0011535 semapv:LexicalMatching Pollakisuria increased urination frequency -HP:0031591 skos:exactMatch MP:0011571 semapv:LexicalMatching Enlarged Eustachian valve enlarged inferior vena cava valve -HP:0031209 skos:exactMatch MP:0011579 semapv:LexicalMatching Decreased lipoprotein lipase activity decreased lipoprotein lipase activity -HP:0000176 skos:exactMatch MP:0011615 semapv:LexicalMatching Submucous cleft hard palate submucous cleft palate -HP:0012087 skos:exactMatch MP:0011633 semapv:LexicalMatching Abnormal mitochondrial shape abnormal mitochondrial shape -HP:0011004 skos:exactMatch MP:0011655 semapv:LexicalMatching Abnormal systemic arterial morphology abnormal systemic artery morphology -HP:0031563 skos:exactMatch MP:0011656 semapv:LexicalMatching Coronary arteriovenous fistula coronary arterio-venous fistula -HP:0011612 skos:exactMatch MP:0011658 semapv:LexicalMatching Interrupted aortic arch type A "interrupted aortic arch type a" -HP:0011613 skos:exactMatch MP:0011659 semapv:LexicalMatching Interrupted aortic arch type B "interrupted aortic arch type b" -HP:0001683 skos:exactMatch MP:0011660 semapv:LexicalMatching Ectopia cordis ectopia cordis -HP:0004384 skos:exactMatch MP:0011661 semapv:LexicalMatching Type I truncus arteriosus persistent truncus arteriosus type i -HP:0011608 skos:exactMatch MP:0011662 semapv:LexicalMatching Type II truncus arteriosus persistent truncus arteriosus type ii -HP:0011609 skos:exactMatch MP:0011663 semapv:LexicalMatching Type III truncus arteriosus persistent truncus arteriosus type iii -HP:0011610 skos:exactMatch MP:0011664 semapv:LexicalMatching Type IV truncus arteriosus persistent truncus arteriosus type iv -HP:0031348 skos:exactMatch MP:0011665 semapv:LexicalMatching Dextrotransposition of the great arteries d-loop transposition of the great arteries -HP:0011652 skos:exactMatch MP:0011669 semapv:LexicalMatching Double outlet right ventricle with doubly committed ventricular septal defect without pulmonary stenosis "double outlet right ventricle doubly committed ventricular septal defect" -HP:0011654 skos:exactMatch MP:0011670 semapv:LexicalMatching Double outlet right ventricle with non-committed ventricular septal defect without pulmonary stenosis "double outlet right ventricle noncommitted ventricular septal defect" -HP:0011573 skos:exactMatch MP:0011680 semapv:LexicalMatching Hypoplastic tricuspid valve tricuspid valve hypoplasia -HP:0002282 skos:exactMatch MP:0011723 semapv:LexicalMatching Gray matter heterotopia ectopic neuron -HP:0031086 skos:exactMatch MP:0011727 semapv:LexicalMatching Ectopic ovary ectopic ovary -HP:0025382 skos:exactMatch MP:0011737 semapv:LexicalMatching Hypodipsia hypodipsia -HP:0012050 skos:exactMatch MP:0011738 semapv:LexicalMatching Anasarca anasarca -HP:0031812 skos:exactMatch MP:0011741 semapv:LexicalMatching Nitrituria increased urine nitrite level -HP:0031633 skos:exactMatch MP:0011745 semapv:LexicalMatching Isolation of the left subclavian artery isolation of the left subclavian artery -HP:0011974 skos:exactMatch MP:0011747 semapv:LexicalMatching Myelofibrosis myelofibrosis -HP:0032200 skos:exactMatch MP:0011749 semapv:LexicalMatching Perivascular fibrosis perivascular fibrosis -HP:0500006 skos:exactMatch MP:0011763 semapv:LexicalMatching Urethritis urethritis -HP:0000070 skos:exactMatch MP:0011767 semapv:LexicalMatching Ureterocele ureterocele -HP:0025023 skos:exactMatch MP:0011775 semapv:LexicalMatching Rectal atresia rectal atresia -HP:0025407 skos:exactMatch MP:0011786 semapv:LexicalMatching Rectourethral fistula rectourethral fistula -HP:0000796 skos:exactMatch MP:0011801 semapv:LexicalMatching Urethral obstruction urethra obstruction -HP:0005580 skos:exactMatch MP:0011803 semapv:LexicalMatching Duplication of renal pelvis double kidney pelvis -HP:0001586 skos:exactMatch MP:0011829 semapv:LexicalMatching Vesicovaginal fistula vesicovaginal fistula -HP:0010479 skos:exactMatch MP:0011852 semapv:LexicalMatching Patent urachus patent urachus -HP:0002181 skos:exactMatch MP:0011854 semapv:LexicalMatching Cerebral edema cerebral edema -HP:0020133 skos:exactMatch MP:0011871 semapv:LexicalMatching Podocyte hypertrophy podocyte hypertrophy -HP:0030261 skos:exactMatch MP:0011876 semapv:LexicalMatching Absent penis absent penis -HP:0008986 skos:exactMatch MP:0011883 semapv:LexicalMatching Agenesis of the diaphragm absent diaphragm -HP:0032385 skos:exactMatch MP:0011892 semapv:LexicalMatching Abnormal circulating transferrin level abnormal circulating transferrin level -HP:0032195 skos:exactMatch MP:0011920 semapv:LexicalMatching Abnormal S wave abnormal S wave -HP:0031427 skos:exactMatch MP:0011922 semapv:LexicalMatching Abnormal circulating osteocalcin level abnormal circulating osteocalcin level -HP:0030329 skos:exactMatch MP:0011965 semapv:LexicalMatching Retinal thinning decreased total retina thickness -HP:0031795 skos:exactMatch MP:0011973 semapv:LexicalMatching Abnormal circulating glycerol level abnormal circulating glycerol level -HP:0002373 skos:exactMatch MP:0012011 semapv:LexicalMatching Febrile seizures febrile seizures -HP:0001257 skos:exactMatch MP:0012051 semapv:LexicalMatching Spasticity spasticity -HP:0001276 skos:exactMatch MP:0012052 semapv:LexicalMatching Hypertonia hypertonicity -HP:0002509 skos:exactMatch MP:0012053 semapv:LexicalMatching Limb hypertonia limb hypertonicity -HP:0000465 skos:exactMatch MP:0012077 semapv:LexicalMatching Webbed neck webbed neck -HP:0012281 skos:exactMatch MP:0012080 semapv:LexicalMatching Chylous ascites chylous ascites -HP:0000647 skos:exactMatch MP:0012121 semapv:LexicalMatching Sclerocornea sclerocornea -HP:0001562 skos:exactMatch MP:0012171 semapv:LexicalMatching Oligohydramnios oligohydramnios -HP:0031821 skos:exactMatch MP:0012208 semapv:LexicalMatching Abnormal hypoxanthine-guanine phosphoribosyltransferase level abnormal hypoxanthine-guanine phosphoribosyltransferase level -HP:0031823 skos:exactMatch MP:0012209 semapv:LexicalMatching Reduced hypoxanthine-guanine phosphoribosyltransferase level decreased hypoxanthine-guanine phosphoribosyltransferase level -HP:0005326 skos:exactMatch MP:0012258 semapv:LexicalMatching Hypoplastic philtrum philtrum hypoplasia -HP:0002435 skos:exactMatch MP:0012259 semapv:LexicalMatching Meningocele meningocele -HP:0002084 skos:exactMatch MP:0012260 semapv:LexicalMatching Encephalocele encephalomeningocele -HP:0032463 skos:exactMatch MP:0012332 semapv:LexicalMatching Reduced circulating fibronectin level decreased circulating fibronectin level -HP:0002153 skos:exactMatch MP:0012339 semapv:LexicalMatching Hyperkalemia hyperkalemia -HP:0032199 skos:exactMatch MP:0012354 semapv:LexicalMatching Abnormal prothrombin time abnormal prothrombin time -HP:0032198 skos:exactMatch MP:0012355 semapv:LexicalMatching Decreased prothrombin time decreased prothrombin time -HP:0008151 skos:exactMatch MP:0012356 semapv:LexicalMatching Prolonged prothrombin time increased prothrombin time -HP:0003645 skos:exactMatch MP:0012357 semapv:LexicalMatching Prolonged partial thromboplastin time abnormal partial thromboplastin time -HP:0003645 skos:exactMatch MP:0012359 semapv:LexicalMatching Prolonged partial thromboplastin time increased partial thromboplastin time -HP:0000767 skos:exactMatch MP:0012514 semapv:LexicalMatching Pectus excavatum pectus excavatum -HP:0009922 skos:exactMatch MP:0012538 semapv:LexicalMatching Vascular remnant arising from the disc persistent hyaloid artery -HP:0003396 skos:exactMatch MP:0012545 semapv:LexicalMatching Syringomyelia syringomyelia -HP:0000325 skos:exactMatch MP:0012546 semapv:LexicalMatching Triangular face triangular face -HP:0002475 skos:exactMatch MP:0012547 semapv:LexicalMatching Myelomeningocele spina bifida cystica -HP:0012418 skos:exactMatch MP:0012549 semapv:LexicalMatching Hypoxemia hypoxemia -HP:0005972 skos:exactMatch MP:0012550 semapv:LexicalMatching Respiratory acidosis respiratory acidosis -HP:0001942 skos:exactMatch MP:0012551 semapv:LexicalMatching Metabolic acidosis metabolic acidosis -HP:0003128 skos:exactMatch MP:0012552 semapv:LexicalMatching Lactic acidosis lactic acidosis -HP:0004336 skos:exactMatch MP:0012674 semapv:LexicalMatching Myelin outfoldings tomacula -HP:0030175 skos:exactMatch MP:0012674 semapv:LexicalMatching Myelin tomacula tomacula -HP:0100562 skos:exactMatch MP:0012711 semapv:LexicalMatching Diplomyelia diplomyelia -HP:0430021 skos:exactMatch MP:0012729 semapv:LexicalMatching Abnormal common carotid artery morphology abnormal common carotid artery morphology -HP:0000421 skos:exactMatch MP:0013127 semapv:LexicalMatching Epistaxis epistaxis -HP:0004099 skos:exactMatch MP:0013149 semapv:LexicalMatching Macrodactyly macrodactyly -HP:0005268 skos:exactMatch MP:0013172 semapv:LexicalMatching Spontaneous abortion miscarriage -HP:0020179 skos:exactMatch MP:0013215 semapv:LexicalMatching Abnormal haptoglobin level abnormal haptoglobin level -HP:0410012 skos:exactMatch MP:0013262 semapv:LexicalMatching Abnormal mouth floor morphology abnormal mouth floor morphology -HP:0010296 skos:exactMatch MP:0013264 semapv:LexicalMatching Ankyloglossia tongue ankylosis -HP:0002836 skos:exactMatch MP:0013282 semapv:LexicalMatching Bladder exstrophy urinary bladder exstrophy -HP:0004727 skos:exactMatch MP:0013305 semapv:LexicalMatching Impaired renal concentrating ability isosthenuria -HP:0003271 skos:exactMatch MP:0013328 semapv:LexicalMatching Visceromegaly visceromegaly -HP:0010799 skos:exactMatch MP:0013365 semapv:LexicalMatching Pinealoma increased pineal gland tumor incidence -HP:0011850 skos:exactMatch MP:0013367 semapv:LexicalMatching Parotitis parotid gland inflammation -HP:0000970 skos:exactMatch MP:0013368 semapv:LexicalMatching Anhidrosis abnormal sweat gland physiology -HP:0000970 skos:exactMatch MP:0013370 semapv:LexicalMatching Anhidrosis anhidrosis -HP:0000966 skos:exactMatch MP:0013371 semapv:LexicalMatching Hypohidrosis hypohidrosis -HP:0000975 skos:exactMatch MP:0013372 semapv:LexicalMatching Hyperhidrosis hyperhidrosis -HP:0009720 skos:exactMatch MP:0013383 semapv:LexicalMatching Adenoma sebaceum increased sebaceous gland adenoma incidence -HP:0010605 skos:exactMatch MP:0013390 semapv:LexicalMatching Chalazion Meibomian gland cyst -HP:0025610 skos:exactMatch MP:0013391 semapv:LexicalMatching Posterior blepharitis abnormal Meibomian gland physiology -HP:0025610 skos:exactMatch MP:0013392 semapv:LexicalMatching Posterior blepharitis Meibomian gland inflammation -HP:0430007 skos:exactMatch MP:0013393 semapv:LexicalMatching Symblepharon symblepharon -HP:0000579 skos:exactMatch MP:0013451 semapv:LexicalMatching Nasolacrimal duct obstruction nasolacrimal duct obstruction -HP:0001097 skos:exactMatch MP:0013466 semapv:LexicalMatching Keratoconjunctivitis sicca keratoconjunctivitis sicca -HP:0100532 skos:exactMatch MP:0013479 semapv:LexicalMatching Scleritis scleritis -HP:0030934 skos:exactMatch MP:0013492 semapv:LexicalMatching Oral erythroplakia oral erythroplakia -HP:0000029 skos:exactMatch MP:0013600 semapv:LexicalMatching Testicular atrophy testis degeneration -HP:0012130 skos:exactMatch MP:0013659 semapv:LexicalMatching Abnormal erythroid lineage cell morphology abnormal erythroid lineage cell morphology -HP:0010307 skos:exactMatch MP:0013752 semapv:LexicalMatching Stridor stridor -HP:0002779 skos:exactMatch MP:0013753 semapv:LexicalMatching Tracheomalacia tracheomalacia -HP:0005528 skos:exactMatch MP:0013776 semapv:LexicalMatching Bone marrow hypocellularity bone marrow failure -HP:0009933 skos:exactMatch MP:0013789 semapv:LexicalMatching Narrow naris small external nares -HP:0009932 skos:exactMatch MP:0013790 semapv:LexicalMatching Single naris single external naris -HP:0001298 skos:exactMatch MP:0013806 semapv:LexicalMatching Encephalopathy encephalopathy -HP:0007430 skos:exactMatch MP:0013807 semapv:LexicalMatching Generalized edema generalized edema -HP:0012327 skos:exactMatch MP:0013856 semapv:LexicalMatching Celiac artery compression celiac artery compression -HP:0000499 skos:exactMatch MP:0013895 semapv:LexicalMatching Abnormal eyelash morphology abnormal eyelid cilium morphology -HP:0100686 skos:exactMatch MP:0013942 semapv:LexicalMatching Enthesitis enthesitis -HP:0004401 skos:exactMatch MP:0014036 semapv:LexicalMatching Meconium ileus meconium ileus -HP:0011359 skos:exactMatch MP:0014053 semapv:LexicalMatching Dry hair dry hair -HP:0030779 skos:exactMatch MP:0014061 semapv:LexicalMatching Ethmocephaly ethmocephaly -HP:0100318 skos:exactMatch MP:0014063 semapv:LexicalMatching Lafora bodies Lafora bodies -HP:0100317 skos:exactMatch MP:0014064 semapv:LexicalMatching Argyrophilic inclusion bodies argyrophilic inclusion bodies -HP:0100315 skos:exactMatch MP:0014065 semapv:LexicalMatching Lewy bodies Lewy bodies -HP:0100316 skos:exactMatch MP:0014067 semapv:LexicalMatching Hirano bodies Hirano bodies -HP:0001028 skos:exactMatch MP:0014086 semapv:LexicalMatching Hemangioma hemangioma -HP:0007359 skos:exactMatch MP:0014120 semapv:LexicalMatching Focal-onset seizure focal seizures -HP:0100522 skos:exactMatch MP:0014127 semapv:LexicalMatching Thymoma increased thymoma incidence -HP:0000522 skos:exactMatch MP:0014157 semapv:LexicalMatching Alacrima alacrima -HP:0003118 skos:exactMatch MP:0014161 semapv:LexicalMatching Increased circulating cortisol level increased circulating cortisol level -HP:0008163 skos:exactMatch MP:0014162 semapv:LexicalMatching Decreased circulating cortisol level decreased circulating cortisol level -HP:0012628 skos:exactMatch MP:0014176 semapv:LexicalMatching Abnormal suspensory ligament of lens morphology abnormal cilary zonule morphology -HP:0012860 skos:exactMatch MP:0014189 semapv:LexicalMatching Testicular fibrosis testis fibrosis -HP:0400005 skos:exactMatch MP:0020084 semapv:LexicalMatching Short ear short ears -HP:0400004 skos:exactMatch MP:0020085 semapv:LexicalMatching Long ear long ears -HP:0045081 skos:exactMatch MP:0020182 semapv:LexicalMatching Abnormality of body mass index abnormal body mass index -HP:0000632 skos:exactMatch MP:0020218 semapv:LexicalMatching Lacrimation abnormality abnormal tear production -HP:0009926 skos:exactMatch MP:0020219 semapv:LexicalMatching Epiphora increased tear production -HP:0031731 skos:exactMatch MP:0020219 semapv:LexicalMatching Increased tear production increased tear production -HP:0000633 skos:exactMatch MP:0020220 semapv:LexicalMatching Decreased lacrimation decreased tear production -HP:0020037 skos:exactMatch MP:0020289 semapv:LexicalMatching Astasia astasia -HP:0011958 skos:exactMatch MP:0020441 semapv:LexicalMatching Retinal perforation rhegmatogenous retinal detachment -HP:0012230 skos:exactMatch MP:0020441 semapv:LexicalMatching Rhegmatogenous retinal detachment rhegmatogenous retinal detachment -HP:0012231 skos:exactMatch MP:0020442 semapv:LexicalMatching Exudative retinal detachment serous retinal detachment -HP:0007917 skos:exactMatch MP:0020443 semapv:LexicalMatching Tractional retinal detachment tractional retinal detachment -HP:0011966 skos:exactMatch MP:0020836 semapv:LexicalMatching Elevated plasma citrulline increased circulating citrulline level -HP:0001607 skos:exactMatch MP:0030001 semapv:LexicalMatching Subglottic stenosis subglottis stenosis -HP:0410170 skos:exactMatch MP:0030003 semapv:LexicalMatching Hippocampal atrophy hippocampus atrophy -HP:0025517 skos:exactMatch MP:0030004 semapv:LexicalMatching Hypoplastic hippocampus hippocampus hypoplasia -HP:0002645 skos:exactMatch MP:0030030 semapv:LexicalMatching Wormian bones Wormian bones -HP:0000290 skos:exactMatch MP:0030031 semapv:LexicalMatching Abnormality of the forehead abnormal forehead morphology -HP:0005281 skos:exactMatch MP:0030035 semapv:LexicalMatching Hypoplastic nasal bridge small nasal bridge -HP:0003194 skos:exactMatch MP:0030036 semapv:LexicalMatching Short nasal bridge short nasal bridge -HP:0011220 skos:exactMatch MP:0030049 semapv:LexicalMatching Prominent forehead prominent forehead -HP:0000303 skos:exactMatch MP:0030050 semapv:LexicalMatching Mandibular prognathia large mandible -HP:0030756 skos:exactMatch MP:0030058 semapv:LexicalMatching Erythrodontia erythrodontia -HP:0000274 skos:exactMatch MP:0030065 semapv:LexicalMatching Small face face hypoplasia -HP:0001999 skos:exactMatch MP:0030071 semapv:LexicalMatching Abnormal facial shape abnormal face shape -HP:0100663 skos:exactMatch MP:0030078 semapv:LexicalMatching Synotia synotia -HP:0002677 skos:exactMatch MP:0030094 semapv:LexicalMatching Small foramen magnum foramen magnum stenosis -HP:0004467 skos:exactMatch MP:0030097 semapv:LexicalMatching Preauricular pit preauricular pit -HP:0000629 skos:exactMatch MP:0030098 semapv:LexicalMatching Periorbital fullness periorbital fullness -HP:0011332 skos:exactMatch MP:0030100 semapv:LexicalMatching Hemifacial hypoplasia hemifacial hypoplasia -HP:0000670 skos:exactMatch MP:0030101 semapv:LexicalMatching Carious teeth carious teeth -HP:0000473 skos:exactMatch MP:0030126 semapv:LexicalMatching Torticollis torticollis -HP:0000206 skos:exactMatch MP:0030129 semapv:LexicalMatching Glossitis tongue inflammation -HP:0000230 skos:exactMatch MP:0030130 semapv:LexicalMatching Gingivitis gum inflammation -HP:0000704 skos:exactMatch MP:0030132 semapv:LexicalMatching Periodontitis periodontium inflammation -HP:0011468 skos:exactMatch MP:0030143 semapv:LexicalMatching Facial tics facial muscle spasm -HP:0000215 skos:exactMatch MP:0030169 semapv:LexicalMatching Thick upper lip vermilion thick upper lip -HP:0005104 skos:exactMatch MP:0030197 semapv:LexicalMatching Hypoplastic nasal septum small nasal septum -HP:0004411 skos:exactMatch MP:0030199 semapv:LexicalMatching Deviated nasal septum deviated nasal septum -HP:0009746 skos:exactMatch MP:0030205 semapv:LexicalMatching Thick nasal septum thick nasal septum -HP:3000051 skos:exactMatch MP:0030212 semapv:LexicalMatching Abnormal hyoglossus muscle morphology abnormal hyoglossus muscle morphology -HP:0002380 skos:exactMatch MP:0030214 semapv:LexicalMatching Fasciculations muscle fasciculation -HP:0001308 skos:exactMatch MP:0030216 semapv:LexicalMatching Tongue fasciculations tongue muscle fasciculation -HP:0025011 skos:exactMatch MP:0030218 semapv:LexicalMatching Pyriform aperture stenosis piriform aperture stenosis -HP:0004472 skos:exactMatch MP:0030223 semapv:LexicalMatching Mandibular hyperostosis mandibular hyperostosis -HP:0002010 skos:exactMatch MP:0030248 semapv:LexicalMatching Narrow maxilla narrow maxilla -HP:0030867 skos:exactMatch MP:0030253 semapv:LexicalMatching Vertical orbital dystopia vertical orbital dystopia -HP:0002007 skos:exactMatch MP:0030262 semapv:LexicalMatching Frontal bossing frontal bossing -HP:0002007 skos:exactMatch MP:0030263 semapv:LexicalMatching Frontal bossing cranial bossing -HP:0000242 skos:exactMatch MP:0030265 semapv:LexicalMatching Parietal bossing parietal bossing -HP:0000278 skos:exactMatch MP:0030270 semapv:LexicalMatching Retrognathia retrogenia -HP:0000347 skos:exactMatch MP:0030273 semapv:LexicalMatching Micrognathia mandibular retrognathia -HP:0000327 skos:exactMatch MP:0030274 semapv:LexicalMatching Hypoplasia of the maxilla maxillary retrognathia -HP:0002684 skos:exactMatch MP:0030278 semapv:LexicalMatching Thickened calvaria thick neurocranium -HP:0010539 skos:exactMatch MP:0030279 semapv:LexicalMatching Thin calvarium thin neurocranium -HP:0031046 skos:exactMatch MP:0030290 semapv:LexicalMatching Absent soft palate absent soft palate -HP:0000252 skos:exactMatch MP:0030315 semapv:LexicalMatching Microcephaly small neurocranium -HP:0012478 skos:exactMatch MP:0030327 semapv:LexicalMatching Temporomandibular joint ankylosis temporomandibular joint ankylosis -HP:0004440 skos:exactMatch MP:0030350 semapv:LexicalMatching Coronal craniosynostosis premature coronal suture closure -HP:0004442 skos:exactMatch MP:0030354 semapv:LexicalMatching Sagittal craniosynostosis premature sagittal suture closure -HP:0004443 skos:exactMatch MP:0030356 semapv:LexicalMatching Lambdoidal craniosynostosis premature lambdoid suture closure -HP:0005441 skos:exactMatch MP:0030359 semapv:LexicalMatching Sclerotic cranial sutures cranial suture sclerosis -HP:0011330 skos:exactMatch MP:0030367 semapv:LexicalMatching Metopic synostosis premature metopic suture closure -HP:0002692 skos:exactMatch MP:0030386 semapv:LexicalMatching Hypoplastic facial bones facial bone hypoplasia -HP:0001363 skos:exactMatch MP:0030392 semapv:LexicalMatching Craniosynostosis premature fontanelle closure -HP:0005458 skos:exactMatch MP:0030392 semapv:LexicalMatching Premature closure of fontanelles premature fontanelle closure -HP:0200111 skos:exactMatch MP:0030403 semapv:LexicalMatching Absent stapes head absent stapes head -HP:0004493 skos:exactMatch MP:0030417 semapv:LexicalMatching Craniofacial hyperostosis craniofacial hyperostosis -HP:0005465 skos:exactMatch MP:0030418 semapv:LexicalMatching Facial hyperostosis facial hyperostosis -HP:0030789 skos:exactMatch MP:0030419 semapv:LexicalMatching Excessive cerumen excessive cerumen -HP:0001363 skos:exactMatch MP:0030435 semapv:LexicalMatching Craniosynostosis premature craniofacial suture closure -HP:0009722 skos:exactMatch MP:0030460 semapv:LexicalMatching Dental enamel pits enamel pits -HP:0030757 skos:exactMatch MP:0030462 semapv:LexicalMatching Tooth abscess tooth abscess -HP:0030758 skos:exactMatch MP:0030463 semapv:LexicalMatching Periapical tooth abscess apical tooth abscess -HP:0011090 skos:exactMatch MP:0030472 semapv:LexicalMatching Fused teeth fused teeth -HP:0003771 skos:exactMatch MP:0030491 semapv:LexicalMatching Pulp stones dental pulp stones -HP:0011072 skos:exactMatch MP:0030495 semapv:LexicalMatching Rootless teeth absent tooth root -HP:0000679 skos:exactMatch MP:0030496 semapv:LexicalMatching Taurodontia taurodontia -HP:0000698 skos:exactMatch MP:0030499 semapv:LexicalMatching Conical tooth conical tooth -HP:0001571 skos:exactMatch MP:0030505 semapv:LexicalMatching Multiple impacted teeth tooth impaction -HP:0011079 skos:exactMatch MP:0030505 semapv:LexicalMatching Impacted tooth tooth impaction -HP:0100656 skos:exactMatch MP:0030579 semapv:LexicalMatching Thoracoabdominal wall defect thoracoabdominoschisis -HP:0004334 skos:exactMatch MP:0030584 semapv:LexicalMatching Dermal atrophy skin atrophy -HP:0006349 skos:exactMatch MP:0030608 semapv:LexicalMatching Agenesis of permanent teeth decreased tooth number -HP:0000674 skos:exactMatch MP:0030610 semapv:LexicalMatching Anodontia absent teeth -HP:0003260 skos:exactMatch MP:0030681 semapv:LexicalMatching Hydroxyprolinemia increased circulating hydroxyproline level -HP:0003080 skos:exactMatch MP:0030682 semapv:LexicalMatching Hydroxyprolinuria hydroxyprolinuria -HP:0025441 skos:exactMatch MP:0030776 semapv:LexicalMatching Achilles tendon calcification calcified calcaneal tendon -HP:0003368 skos:exactMatch MP:0030788 semapv:LexicalMatching Abnormality of the femoral head abnormal femur head morphology -HP:0003367 skos:exactMatch MP:0030789 semapv:LexicalMatching Abnormality of the femoral neck abnormal femur neck morphology -HP:0100864 skos:exactMatch MP:0030793 semapv:LexicalMatching Short femoral neck short femur neck -HP:0002827 skos:exactMatch MP:0030796 semapv:LexicalMatching Hip dislocation hip dislocation -HP:0001388 skos:exactMatch MP:0030797 semapv:LexicalMatching Joint laxity joint laxity -HP:0001371 skos:exactMatch MP:0030798 semapv:LexicalMatching Flexion contracture joint contracture -HP:0025230 skos:exactMatch MP:0030801 semapv:LexicalMatching Tendonitis tendonitis -HP:0012317 skos:exactMatch MP:0030822 semapv:LexicalMatching Sacroiliac arthritis sacroiliac joint inflammation -HP:0031846 skos:exactMatch MP:0030827 semapv:LexicalMatching Femur fracture femur fracture -HP:0003042 skos:exactMatch MP:0030843 semapv:LexicalMatching Elbow dislocation elbow dislocation -HP:0003994 skos:exactMatch MP:0030864 semapv:LexicalMatching Dislocated wrist wrist dislocation -HP:0000897 skos:exactMatch MP:0030884 semapv:LexicalMatching Rachitic rosary rachitic rosary -HP:0000923 skos:exactMatch MP:0030884 semapv:LexicalMatching Beaded ribs rachitic rosary -HP:0007384 skos:exactMatch MP:0030915 semapv:LexicalMatching Aberrant melanosome maturation abnormal melanosome maturation -HP:0005592 skos:exactMatch MP:0030917 semapv:LexicalMatching Giant melanosomes in melanocytes enlarged melanosome -HP:0031615 skos:exactMatch MP:0030932 semapv:LexicalMatching Hypopyon hypopyon -HP:0011886 skos:exactMatch MP:0030933 semapv:LexicalMatching Hyphema hyphema -HP:0001993 skos:exactMatch MP:0030971 semapv:LexicalMatching Ketoacidosis ketoacidosis -HP:0031428 skos:exactMatch MP:0030984 semapv:LexicalMatching Increased circulating osteocalcin level increased circulating osteocalcin level -HP:0031429 skos:exactMatch MP:0030985 semapv:LexicalMatching Decreased circulating osteocalcin level decreased circulating osteocalcin level -HP:0012486 skos:exactMatch MP:0030987 semapv:LexicalMatching Myelitis spinal cord inflammation -HP:0031002 skos:exactMatch MP:0030990 semapv:LexicalMatching Neuritis nerve inflammation -HP:0100653 skos:exactMatch MP:0030991 semapv:LexicalMatching Optic neuritis optic nerve inflammation -HP:0009894 skos:exactMatch MP:0000019 semapv:LogicalReasoning Thickened ears thick ears -HP:0000377 skos:exactMatch MP:0000022 semapv:LogicalReasoning Abnormality of the pinna abnormal ear shape -HP:0000369 skos:exactMatch MP:0000024 semapv:LogicalReasoning Low-set ears lowered ear position -HP:0011390 skos:exactMatch MP:0000026 semapv:LogicalReasoning Morphological abnormality of the inner ear abnormal inner ear morphology -HP:0011376 skos:exactMatch MP:0000034 semapv:LogicalReasoning Morphological abnormality of the vestibule of the inner ear abnormal inner ear vestibule morphology -HP:0008609 skos:exactMatch MP:0000049 semapv:LogicalReasoning Morphological abnormality of the middle ear abnormal middle ear morphology -HP:0002696 skos:exactMatch MP:0000109 semapv:LogicalReasoning Abnormal parietal bone morphology abnormal parietal bone morphology -HP:0011323 skos:exactMatch MP:0000114 semapv:LogicalReasoning Cleft of chin cleft chin -HP:0002753 skos:exactMatch MP:0000135 semapv:LogicalReasoning Thin bony cortex decreased compact bone thickness -HP:0000782 skos:exactMatch MP:0000149 semapv:LogicalReasoning Abnormality of the scapula abnormal scapula morphology -HP:0003141 skos:exactMatch MP:0000182 semapv:LogicalReasoning Increased LDL cholesterol concentration increased circulating LDL cholesterol level -HP:0003233 skos:exactMatch MP:0000186 semapv:LogicalReasoning Decreased HDL cholesterol concentration decreased circulating HDL cholesterol level -HP:0001640 skos:exactMatch MP:0000274 semapv:LogicalReasoning Cardiomegaly enlarged heart -HP:0011994 skos:exactMatch MP:0000282 semapv:LogicalReasoning Abnormal atrial septum morphology abnormal interatrial septum morphology -HP:0100495 skos:exactMatch MP:0000324 semapv:LogicalReasoning Mastocytosis increased mast cell number -HP:0001006 skos:exactMatch MP:0000414 semapv:LogicalReasoning Hypotrichosis alopecia -HP:0040194 skos:exactMatch MP:0000434 semapv:LogicalReasoning Increased head circumference megacephaly -HP:0000248 skos:exactMatch MP:0000435 semapv:LogicalReasoning Brachycephaly shortened head -HP:0000327 skos:exactMatch MP:0000457 semapv:LogicalReasoning Hypoplasia of the maxilla maxilla hypoplasia -HP:0005815 skos:exactMatch MP:0000480 semapv:LogicalReasoning Supernumerary ribs increased rib number -HP:0010946 skos:exactMatch MP:0000519 semapv:LogicalReasoning Dilatation of the renal pelvis hydronephrosis -HP:0008873 skos:exactMatch MP:0000547 semapv:LogicalReasoning Disproportionate short-limb short stature short limbs -HP:0045009 skos:exactMatch MP:0000552 semapv:LogicalReasoning Abnormal morphology of the radius abnormal radius morphology -HP:0002992 skos:exactMatch MP:0000558 semapv:LogicalReasoning Abnormality of tibia morphology abnormal tibia morphology -HP:0002823 skos:exactMatch MP:0000559 semapv:LogicalReasoning Abnormality of femur morphology abnormal femur morphology -HP:0001883 skos:exactMatch MP:0000576 semapv:LogicalReasoning Talipes clubfoot -HP:0012681 skos:exactMatch MP:0000632 semapv:LogicalReasoning Abnormality of pineal morphology abnormal pineal gland morphology -HP:0011732 skos:exactMatch MP:0000639 semapv:LogicalReasoning Abnormality of adrenal morphology abnormal adrenal gland morphology -HP:0008711 skos:exactMatch MP:0000659 semapv:LogicalReasoning Benign prostatic hyperplasia prostate gland hyperplasia -HP:0040088 skos:exactMatch MP:0000717 semapv:LogicalReasoning Abnormal lymphocyte count abnormal lymphocyte cell number -HP:0005422 skos:exactMatch MP:0000727 semapv:LogicalReasoning Absence of CD8-positive T cells "absent CD8-positive alpha-beta T cells" -HP:0001322 skos:exactMatch MP:0000774 semapv:LogicalReasoning obsolete Brain very small decreased brain size -HP:0100547 skos:exactMatch MP:0000783 semapv:LogicalReasoning Abnormality of forebrain morphology abnormal forebrain morphology -HP:0006872 skos:exactMatch MP:0000785 semapv:LogicalReasoning Cerebral hypoplasia telencephalon hypoplasia -HP:0006891 skos:exactMatch MP:0000789 semapv:LogicalReasoning Thick cerebral cortex thickened cerebral cortex -HP:0025100 skos:exactMatch MP:0000807 semapv:LogicalReasoning Abnormal morphology of the hippocampus abnormal hippocampus morphology -HP:0040327 skos:exactMatch MP:0000819 semapv:LogicalReasoning Abnormal morphology of the olfactory bulb abnormal olfactory bulb morphology -HP:0006956 skos:exactMatch MP:0000825 semapv:LogicalReasoning Dilation of lateral ventricles dilated lateral ventricles -HP:0011282 skos:exactMatch MP:0000841 semapv:LogicalReasoning Abnormality of hindbrain morphology abnormal hindbrain morphology -HP:0007027 skos:exactMatch MP:0000847 semapv:LogicalReasoning Poorly formed metencephalon abnormal metencephalon morphology -HP:0002335 skos:exactMatch MP:0000865 semapv:LogicalReasoning Agenesis of cerebellar vermis absent cerebellum vermis -HP:0001320 skos:exactMatch MP:0000866 semapv:LogicalReasoning Cerebellar vermis hypoplasia cerebellum vermis hypoplasia -HP:0002450 skos:exactMatch MP:0000937 semapv:LogicalReasoning Abnormal motor neuron morphology abnormal motor neuron morphology -HP:0002398 skos:exactMatch MP:0000938 semapv:LogicalReasoning Degeneration of anterior horn cells motor neuron degeneration -HP:0025028 skos:exactMatch MP:0001044 semapv:LogicalReasoning Abnormality of enteric nervous system morphology abnormal enteric nervous system morphology -HP:0010824 skos:exactMatch MP:0001065 semapv:LogicalReasoning Abnormal fifth cranial nerve morphology abnormal trigeminal nerve morphology -HP:3000047 skos:exactMatch MP:0001073 semapv:LogicalReasoning Abnormal glossopharyngeal nerve morphology abnormal glossopharyngeal nerve morphology -HP:0010791 skos:exactMatch MP:0001152 semapv:LogicalReasoning Hyperplasia of the Leydig cells Leydig cell hyperplasia -HP:0011124 skos:exactMatch MP:0001216 semapv:LogicalReasoning Abnormality of epidermal morphology abnormal epidermal layer morphology -HP:0000962 skos:exactMatch MP:0001219 semapv:LogicalReasoning Hyperkeratosis thick epidermis -HP:0000002 skos:exactMatch MP:0001253 semapv:LogicalReasoning Abnormality of body height abnormal body height -HP:0004323 skos:exactMatch MP:0001259 semapv:LogicalReasoning Abnormality of body weight abnormal body weight -HP:0100625 skos:exactMatch MP:0001267 semapv:LogicalReasoning Enlarged thorax enlarged chest -HP:0000525 skos:exactMatch MP:0001322 semapv:LogicalReasoning Abnormality iris morphology abnormal iris morphology -HP:0010999 skos:exactMatch MP:0001334 semapv:LogicalReasoning Aplasia of the optic tract absent optic tract -HP:0000733 skos:exactMatch MP:0001409 semapv:LogicalReasoning Stereotypy increased stereotypic behavior -HP:0011843 skos:exactMatch MP:0001533 semapv:LogicalReasoning Abnormality of skeletal physiology abnormal skeleton physiology -HP:0002155 skos:exactMatch MP:0001552 semapv:LogicalReasoning Hypertriglyceridemia increased circulating triglyceride level -HP:0012184 skos:exactMatch MP:0001556 semapv:LogicalReasoning Increased HDL cholesterol concentration increased circulating HDL cholesterol level -HP:0025032 skos:exactMatch MP:0001663 semapv:LogicalReasoning Abnormality of digestive system physiology abnormal digestive system physiology -HP:0001508 skos:exactMatch MP:0001732 semapv:LogicalReasoning Failure to thrive postnatal growth retardation -HP:0003154 skos:exactMatch MP:0001748 semapv:LogicalReasoning Increased circulating ACTH level increased circulating adrenocorticotropin level -HP:0010978 skos:exactMatch MP:0001790 semapv:LogicalReasoning Abnormality of immune system physiology abnormal immune system physiology -HP:0002720 skos:exactMatch MP:0001807 semapv:LogicalReasoning Decreased circulating IgA level decreased IgA level -HP:0001892 skos:exactMatch MP:0001914 semapv:LogicalReasoning Abnormal bleeding hemorrhage -HP:0000080 skos:exactMatch MP:0001919 semapv:LogicalReasoning Abnormality of reproductive system physiology abnormal reproductive system physiology -HP:0000823 skos:exactMatch MP:0001938 semapv:LogicalReasoning Delayed puberty delayed sexual maturation -HP:0012090 skos:exactMatch MP:0001944 semapv:LogicalReasoning Abnormal pancreas morphology abnormal pancreas morphology -HP:0002093 skos:exactMatch MP:0001953 semapv:LogicalReasoning Respiratory insufficiency respiratory failure -HP:0000138 skos:exactMatch MP:0002016 semapv:LogicalReasoning Ovarian cyst ovary cysts -HP:0010719 skos:exactMatch MP:0002074 semapv:LogicalReasoning Abnormality of hair texture abnormal hair texture -HP:0006482 skos:exactMatch MP:0002100 semapv:LogicalReasoning Abnormality of dental morphology abnormal tooth morphology -HP:0012252 skos:exactMatch MP:0002132 semapv:LogicalReasoning Abnormal respiratory system morphology abnormal respiratory system morphology -HP:0002795 skos:exactMatch MP:0002133 semapv:LogicalReasoning Functional respiratory abnormality abnormal respiratory system physiology -HP:0410043 skos:exactMatch MP:0002151 semapv:LogicalReasoning Abnormal neural tube morphology abnormal neural tube morphology -HP:0002991 skos:exactMatch MP:0002187 semapv:LogicalReasoning Abnormality of fibula morphology abnormal fibula morphology -HP:0002718 skos:exactMatch MP:0002412 semapv:LogicalReasoning Recurrent bacterial infections increased susceptibility to bacterial infection -HP:0011840 skos:exactMatch MP:0002444 semapv:LogicalReasoning Abnormality of T cell physiology abnormal T cell physiology -HP:0010975 skos:exactMatch MP:0002458 semapv:LogicalReasoning Abnormal B cell count abnormal B cell number -HP:0005372 skos:exactMatch MP:0002459 semapv:LogicalReasoning Abnormality of B cell physiology abnormal B cell physiology -HP:0011990 skos:exactMatch MP:0002463 semapv:LogicalReasoning Abnormality of neutrophil physiology abnormal neutrophil physiology -HP:0410245 skos:exactMatch MP:0002491 semapv:LogicalReasoning Decreased circulating total IgD decreased IgD level -HP:0005479 skos:exactMatch MP:0002492 semapv:LogicalReasoning Decreased circulating total IgE decreased IgE level -HP:0003496 skos:exactMatch MP:0002494 semapv:LogicalReasoning Increased circulating IgM level increased IgM level -HP:0003261 skos:exactMatch MP:0002495 semapv:LogicalReasoning Increased circulating IgA level increased IgA level -HP:0003212 skos:exactMatch MP:0002497 semapv:LogicalReasoning Increased circulating total IgE level increased IgE level -HP:0011927 skos:exactMatch MP:0002544 semapv:LogicalReasoning Short digit brachydactyly -HP:0012153 skos:exactMatch MP:0002644 semapv:LogicalReasoning Hypotriglyceridemia decreased circulating triglyceride level -HP:0002920 skos:exactMatch MP:0002664 semapv:LogicalReasoning Decreased circulating ACTH level decreased circulating adrenocorticotropin level -HP:0011070 skos:exactMatch MP:0002689 semapv:LogicalReasoning Abnormality of molar morphology abnormal molar morphology -HP:0012091 skos:exactMatch MP:0002693 semapv:LogicalReasoning Abnormality of pancreas physiology abnormal pancreas physiology -HP:0002624 skos:exactMatch MP:0002725 semapv:LogicalReasoning Abnormal venous morphology abnormal vein morphology -HP:0030968 skos:exactMatch MP:0002726 semapv:LogicalReasoning Abnormal pulmonary vein morphology abnormal pulmonary vein morphology -HP:0006426 skos:exactMatch MP:0002728 semapv:LogicalReasoning Rudimentary to absent tibiae absent tibia -HP:0006436 skos:exactMatch MP:0002764 semapv:LogicalReasoning Shortening of the tibia short tibia -HP:0040171 skos:exactMatch MP:0002780 semapv:LogicalReasoning Decreased serum testosterone level decreased circulating testosterone level -HP:0030088 skos:exactMatch MP:0002781 semapv:LogicalReasoning Increased serum testosterone level increased circulating testosterone level -HP:0001098 skos:exactMatch MP:0002864 semapv:LogicalReasoning Abnormal fundus morphology abnormal ocular fundus morphology -HP:0012757 skos:exactMatch MP:0002882 semapv:LogicalReasoning Abnormal neuron morphology abnormal neuron morphology -HP:0012365 skos:exactMatch MP:0002901 semapv:LogicalReasoning Hypophosphaturia increased urine phosphate level -HP:0003109 skos:exactMatch MP:0002902 semapv:LogicalReasoning Hyperphosphaturia decreased urine phosphate level -HP:0011733 skos:exactMatch MP:0002909 semapv:LogicalReasoning Abnormality of adrenal physiology abnormal adrenal gland physiology -HP:0007770 skos:exactMatch MP:0002984 semapv:LogicalReasoning Hypoplasia of the retina retina hypoplasia -HP:0100957 skos:exactMatch MP:0003014 semapv:LogicalReasoning Abnormal renal medulla morphology abnormal kidney medulla morphology -HP:3000052 skos:exactMatch MP:0003056 semapv:LogicalReasoning Abnormality of hyoid bone abnormal hyoid bone morphology -HP:0025321 skos:exactMatch MP:0003066 semapv:LogicalReasoning Copper accumulation in liver increased liver copper level -HP:0000105 skos:exactMatch MP:0003068 semapv:LogicalReasoning Enlarged kidney enlarged kidney -HP:0010048 skos:exactMatch MP:0003074 semapv:LogicalReasoning Aplasia of metacarpal bones absent metacarpal bones -HP:0005237 skos:exactMatch MP:0003103 semapv:LogicalReasoning Degenerative liver disease liver degeneration -HP:0005120 skos:exactMatch MP:0003105 semapv:LogicalReasoning Abnormal cardiac atrium morphology abnormal heart atrium morphology -HP:0012132 skos:exactMatch MP:0003135 semapv:LogicalReasoning Erythroid hyperplasia increased erythroid progenitor cell number -HP:0011373 skos:exactMatch MP:0003148 semapv:LogicalReasoning Incomplete partition of the cochlea decreased cochlear coiling -HP:0003107 skos:exactMatch MP:0003191 semapv:LogicalReasoning Abnormal circulating cholesterol concentration abnormal cellular cholesterol metabolism -HP:0005222 skos:exactMatch MP:0003262 semapv:LogicalReasoning Bowel diverticulosis intestinal/bowel diverticulum -HP:0004398 skos:exactMatch MP:0003300 semapv:LogicalReasoning Peptic ulcer gastrointestinal ulcer -HP:3000002 skos:exactMatch MP:0003308 semapv:LogicalReasoning Abnormal inner ear epithelium morphology abnormal cochlear sensory epithelium morphology -HP:0006274 skos:exactMatch MP:0003339 semapv:LogicalReasoning Reduced pancreatic beta cells decreased pancreatic beta cell number -HP:0009799 skos:exactMatch MP:0003342 semapv:LogicalReasoning Supernumerary spleens accessory spleen -HP:0012569 skos:exactMatch MP:0003377 semapv:LogicalReasoning Delayed menarche late onset of menarche -HP:0011767 skos:exactMatch MP:0003431 semapv:LogicalReasoning Abnormality of the parathyroid physiology abnormal parathyroid gland physiology -HP:0008208 skos:exactMatch MP:0003493 semapv:LogicalReasoning Parathyroid hyperplasia parathyroid gland hyperplasia -HP:0008249 skos:exactMatch MP:0003498 semapv:LogicalReasoning Thyroid hyperplasia thyroid gland hyperplasia -HP:0040253 skos:exactMatch MP:0003529 semapv:LogicalReasoning Increased size of the clitoris enlarged clitoris -HP:0040254 skos:exactMatch MP:0003530 semapv:LogicalReasoning Decreased size of the clitoris small clitoris -HP:0008697 skos:exactMatch MP:0003576 semapv:LogicalReasoning Hypoplasia of the fallopian tube oviduct hypoplasia -HP:0000068 skos:exactMatch MP:0003591 semapv:LogicalReasoning Urethral atresia urethra atresia -HP:0008661 skos:exactMatch MP:0003592 semapv:LogicalReasoning Urethral stenosis urethra stricture -HP:0005343 skos:exactMatch MP:0003617 semapv:LogicalReasoning Hypoplasia of the bladder urinary bladder hypoplasia -HP:0012639 skos:exactMatch MP:0003632 semapv:LogicalReasoning Abnormality of nervous system morphology abnormal nervous system morphology -HP:0012638 skos:exactMatch MP:0003633 semapv:LogicalReasoning Abnormality of nervous system physiology abnormal nervous system physiology -HP:0003750 skos:exactMatch MP:0003646 semapv:LogicalReasoning Increased muscle fatiguability muscle fatigue -HP:0200007 skos:exactMatch MP:0003671 semapv:LogicalReasoning Abnormal size of the palpebral fissures abnormal eyelid aperture -HP:0000107 skos:exactMatch MP:0003675 semapv:LogicalReasoning Renal cyst kidney cysts -HP:0000385 skos:exactMatch MP:0003679 semapv:LogicalReasoning Small earlobe ear lobe hypoplasia -HP:0011314 skos:exactMatch MP:0003723 semapv:LogicalReasoning Abnormality of long bone morphology abnormal long bone morphology -HP:0008544 skos:exactMatch MP:0003736 semapv:LogicalReasoning Abnormally folded helix folded helix -HP:0001999 skos:exactMatch MP:0003743 semapv:LogicalReasoning Abnormal facial shape abnormal facial morphology -HP:0002707 skos:exactMatch MP:0003768 semapv:LogicalReasoning Palate telangiectasia palatal telangiectases -HP:0002298 skos:exactMatch MP:0003815 semapv:LogicalReasoning Absent hair hairless -HP:0001711 skos:exactMatch MP:0003921 semapv:LogicalReasoning Abnormal left ventricle morphology abnormal heart left ventricle morphology -HP:0025580 skos:exactMatch MP:0003922 semapv:LogicalReasoning Abnormal right atrium morphology abnormal heart right atrium morphology -HP:0025579 skos:exactMatch MP:0003923 semapv:LogicalReasoning Abnormal left atrium morphology abnormal heart left atrium morphology -HP:0003234 skos:exactMatch MP:0003978 semapv:LogicalReasoning Decreased plasma carnitine decreased circulating carnitine level -HP:0010994 skos:exactMatch MP:0004077 semapv:LogicalReasoning Abnormal corpus striatum morphology abnormal striatum morphology -HP:0007343 skos:exactMatch MP:0004166 semapv:LogicalReasoning Abnormal morphology of the limbic system abnormal limbic system morphology -HP:0009893 skos:exactMatch MP:0004176 semapv:LogicalReasoning Telangiectasia of the ear ear telangiectases -HP:0011456 skos:exactMatch MP:0004204 semapv:LogicalReasoning Absent stapes absent stapes -HP:0001655 skos:exactMatch MP:0004225 semapv:LogicalReasoning Patent foramen ovale patent cardiac foramen ovale -HP:0012767 skos:exactMatch MP:0004258 semapv:LogicalReasoning Abnormal placental size abnormal placenta size -HP:0006267 skos:exactMatch MP:0004260 semapv:LogicalReasoning Large placenta enlarged placenta -HP:0011377 skos:exactMatch MP:0004314 semapv:LogicalReasoning Aplasia of the vestibule absent inner ear vestibule -HP:0000882 skos:exactMatch MP:0004344 semapv:LogicalReasoning Hypoplastic scapulae scapular bone hypoplasia -HP:0012744 skos:exactMatch MP:0004349 semapv:LogicalReasoning Femoral aplasia absent femur -HP:0005792 skos:exactMatch MP:0004351 semapv:LogicalReasoning Short humerus short humerus -HP:0002984 skos:exactMatch MP:0004356 semapv:LogicalReasoning Hypoplasia of the radius radius hypoplasia -HP:0010504 skos:exactMatch MP:0004357 semapv:LogicalReasoning Increased length of the tibia long tibia -HP:0003194 skos:exactMatch MP:0004471 semapv:LogicalReasoning Short nasal bridge short nasal bone -HP:0040163 skos:exactMatch MP:0004509 semapv:LogicalReasoning Abnormal pelvis bone morphology abnormal pelvic girdle bone morphology -HP:0004791 skos:exactMatch MP:0004547 semapv:LogicalReasoning Esophageal ulceration esophageal ulcer -HP:0009555 skos:exactMatch MP:0004555 semapv:LogicalReasoning Hypoplasia of the pharynx pharynx hypoplasia -HP:3000078 skos:exactMatch MP:0004594 semapv:LogicalReasoning Abnormal mandible coronoid process morphology abnormal mandibular coronoid process morphology -HP:3000077 skos:exactMatch MP:0004595 semapv:LogicalReasoning Abnormal mandible condylar process morphology abnormal mandibular condyloid process morphology -HP:0030040 skos:exactMatch MP:0004621 semapv:LogicalReasoning Fused lumbar vertebrae lumbar vertebral fusion -HP:0030039 skos:exactMatch MP:0004623 semapv:LogicalReasoning Fused thoracic vertebrae thoracic vertebral fusion -HP:0001547 skos:exactMatch MP:0004624 semapv:LogicalReasoning Abnormality of the rib cage abnormal thoracic cage morphology -HP:0010049 skos:exactMatch MP:0004634 semapv:LogicalReasoning Short metacarpal short metacarpal bones -HP:0010493 skos:exactMatch MP:0004638 semapv:LogicalReasoning Long metacarpals elongated metacarpal bones -HP:0009701 skos:exactMatch MP:0004639 semapv:LogicalReasoning Metacarpal synostosis fused metacarpal bones -HP:0001440 skos:exactMatch MP:0004642 semapv:LogicalReasoning Metatarsal synostosis fused metatarsal bones -HP:0008479 skos:exactMatch MP:0004667 semapv:LogicalReasoning Hypoplastic vertebral bodies vertebral body hypoplasia -HP:0005645 skos:exactMatch MP:0004685 semapv:LogicalReasoning Intervertebral disk calcification calcified intervertebral disk -HP:0003026 skos:exactMatch MP:0004686 semapv:LogicalReasoning Short long bone decreased length of long bones -HP:0008428 skos:exactMatch MP:0004687 semapv:LogicalReasoning Vertebral clefting split vertebrae -HP:0003175 skos:exactMatch MP:0004690 semapv:LogicalReasoning Hypoplastic ischia ischium hypoplasia -HP:0003173 skos:exactMatch MP:0004693 semapv:LogicalReasoning Hypoplastic pubic bone pubis hypoplasia -HP:0002766 skos:exactMatch MP:0004704 semapv:LogicalReasoning Relatively short spine short vertebral column -HP:0011393 skos:exactMatch MP:0004719 semapv:LogicalReasoning Aplasia of the vestibular nerve. absent vestibular nerve -HP:0100879 skos:exactMatch MP:0004832 semapv:LogicalReasoning Enlarged ovaries enlarged ovary -HP:0005466 skos:exactMatch MP:0004869 semapv:LogicalReasoning Hypoplasia of the frontal bone frontal bone hypoplasia -HP:0010650 skos:exactMatch MP:0004871 semapv:LogicalReasoning Hypoplasia of the premaxilla premaxilla hypoplasia -HP:0002797 skos:exactMatch MP:0004993 semapv:LogicalReasoning Osteolysis decreased bone resorption -HP:0010976 skos:exactMatch MP:0005017 semapv:LogicalReasoning B lymphocytopenia decreased B cell number -HP:0005403 skos:exactMatch MP:0005018 semapv:LogicalReasoning Decrease in T cell count decreased T cell number -HP:0012176 skos:exactMatch MP:0005068 semapv:LogicalReasoning Abnormal natural killer cell morphology abnormal NK cell morphology -HP:0040071 skos:exactMatch MP:0005108 semapv:LogicalReasoning Abnormal morphology of ulna abnormal ulna morphology -HP:0000870 skos:exactMatch MP:0005139 semapv:LogicalReasoning Increased circulating prolactin concentration increased prolactin level -HP:0003362 skos:exactMatch MP:0005145 semapv:LogicalReasoning Increased VLDL cholesterol concentration increased circulating VLDL cholesterol level -HP:0031243 skos:exactMatch MP:0005146 semapv:LogicalReasoning Decreased VLDL cholesterol concentration decreased circulating VLDL cholesterol level -HP:0008687 skos:exactMatch MP:0005147 semapv:LogicalReasoning Hypoplasia of the prostate prostate gland hypoplasia -HP:0008724 skos:exactMatch MP:0005158 semapv:LogicalReasoning Hypoplasia of the ovary ovary hypoplasia -HP:0000593 skos:exactMatch MP:0005205 semapv:LogicalReasoning Abnormal anterior chamber morphology abnormal eye anterior chamber morphology -HP:0001939 skos:exactMatch MP:0005266 semapv:LogicalReasoning Abnormality of metabolism/homeostasis abnormal metabolism -HP:0001713 skos:exactMatch MP:0005294 semapv:LogicalReasoning Abnormal cardiac ventricle morphology abnormal heart ventricle morphology -HP:0011488 skos:exactMatch MP:0005301 semapv:LogicalReasoning Abnormal corneal endothelium morphology abnormal corneal endothelium morphology -HP:0008191 skos:exactMatch MP:0005314 semapv:LogicalReasoning Thyroid agenesis absent thyroid gland -HP:0002904 skos:exactMatch MP:0005344 semapv:LogicalReasoning Hyperbilirubinemia increased circulating bilirubin level -HP:0000853 skos:exactMatch MP:0005355 semapv:LogicalReasoning Goiter enlarged thyroid gland -HP:0011063 skos:exactMatch MP:0005358 semapv:LogicalReasoning Abnormality of incisor morphology abnormal incisor morphology -HP:0002990 skos:exactMatch MP:0005430 semapv:LogicalReasoning Fibular aplasia absent fibula -HP:0008247 skos:exactMatch MP:0005477 semapv:LogicalReasoning Euthyroid hyperthyroxinemia increased circulating thyroxine level -HP:0011788 skos:exactMatch MP:0005480 semapv:LogicalReasoning Increased circulating free T3 increased circulating triiodothyronine level -HP:0011277 skos:exactMatch MP:0005502 semapv:LogicalReasoning Abnormality of the urinary system physiology abnormal renal/urinary system physiology -HP:0100261 skos:exactMatch MP:0005503 semapv:LogicalReasoning Abnormal tendon morphology abnormal tendon morphology -HP:0011842 skos:exactMatch MP:0005508 semapv:LogicalReasoning Abnormality of skeletal morphology abnormal skeleton morphology -HP:0010790 skos:exactMatch MP:0005536 semapv:LogicalReasoning Hyoplasia of the Leydig cells Leydig cell hypoplasia -HP:0012101 skos:exactMatch MP:0005554 semapv:LogicalReasoning Decreased serum creatinine decreased circulating creatinine level -HP:0001900 skos:exactMatch MP:0005564 semapv:LogicalReasoning Increased hemoglobin increased hemoglobin content -HP:0000139 skos:exactMatch MP:0005577 semapv:LogicalReasoning Uterine prolapse uterus prolapse -HP:0009892 skos:exactMatch MP:0005579 semapv:LogicalReasoning Anotia absent outer ear -HP:0012364 skos:exactMatch MP:0005618 semapv:LogicalReasoning Decreased urinary potassium decreased urine potassium level -HP:0003081 skos:exactMatch MP:0005619 semapv:LogicalReasoning Increased urinary potassium increased urine potassium level -HP:0011017 skos:exactMatch MP:0005621 semapv:LogicalReasoning Abnormal cellular physiology abnormal cell physiology -HP:0002153 skos:exactMatch MP:0005627 semapv:LogicalReasoning Hyperkalemia increased circulating potassium level -HP:0002900 skos:exactMatch MP:0005628 semapv:LogicalReasoning Hypokalemia decreased circulating potassium level -HP:0031793 skos:exactMatch MP:0005669 semapv:LogicalReasoning Increased serum leptin increased circulating leptin level -HP:0008322 skos:exactMatch MP:0006035 semapv:LogicalReasoning Abnormal mitochondrial morphology abnormal mitochondrion morphology -HP:0010444 skos:exactMatch MP:0006048 semapv:LogicalReasoning Pulmonary insufficiency pulmonary valve regurgitation -HP:0001671 skos:exactMatch MP:0006113 semapv:LogicalReasoning Abnormal cardiac septum morphology abnormal heart septum morphology -HP:0004380 skos:exactMatch MP:0006116 semapv:LogicalReasoning Aortic valve calcification calcified aortic valve -HP:0004382 skos:exactMatch MP:0006121 semapv:LogicalReasoning Mitral valve calcification calcified mitral valve -HP:0003207 skos:exactMatch MP:0006133 semapv:LogicalReasoning Arterial calcification calcified artery -HP:0100545 skos:exactMatch MP:0006135 semapv:LogicalReasoning Arterial stenosis artery stenosis -HP:0007862 skos:exactMatch MP:0006188 semapv:LogicalReasoning Retinal calcification calcified retina -HP:0011885 skos:exactMatch MP:0006203 semapv:LogicalReasoning Hemorrhage of the eye eye hemorrhage -HP:0007990 skos:exactMatch MP:0006230 semapv:LogicalReasoning Hypoplastic iris stroma iris stroma hypoplasia -HP:0011372 skos:exactMatch MP:0006285 semapv:LogicalReasoning Aplasia of the inner ear absent inner ear -HP:0011839 skos:exactMatch MP:0006387 semapv:LogicalReasoning Abnormal T cell count abnormal T cell number -HP:0002843 skos:exactMatch MP:0008037 semapv:LogicalReasoning Abnormal T cell morphology abnormal T cell morphology -HP:0040089 skos:exactMatch MP:0008043 semapv:LogicalReasoning Abnormal natural killer cell count abnormal NK cell number -HP:0005415 skos:exactMatch MP:0008079 semapv:LogicalReasoning Decreased proportion of CD8-positive T cells "decreased CD8-positive alpha-beta T cell number" -HP:0011472 skos:exactMatch MP:0008108 semapv:LogicalReasoning Abnormality of small intestinal villus morphology abnormal small intestinal villus morphology -HP:0005513 skos:exactMatch MP:0008254 semapv:LogicalReasoning Increased megakaryocyte count increased megakaryocyte cell number -HP:0005548 skos:exactMatch MP:0008255 semapv:LogicalReasoning Megakaryocytopenia decreased megakaryocyte cell number -HP:0008239 skos:exactMatch MP:0008301 semapv:LogicalReasoning Adrenal medullary hypoplasia adrenal medulla hyperplasia -HP:0010627 skos:exactMatch MP:0008365 semapv:LogicalReasoning Anterior pituitary hypoplasia adenohypophysis hypoplasia -HP:0002849 skos:exactMatch MP:0008523 semapv:LogicalReasoning Absence of lymph node germinal center absent lymph node germinal center -HP:0000113 skos:exactMatch MP:0008528 semapv:LogicalReasoning Polycystic kidney dysplasia polycystic kidney -HP:0007485 skos:exactMatch MP:0008843 semapv:LogicalReasoning Absence of subcutaneous fat absent subcutaneous adipose tissue -HP:0003758 skos:exactMatch MP:0008844 semapv:LogicalReasoning Reduced subcutaneous adipose tissue decreased subcutaneous adipose tissue amount -HP:0012081 skos:exactMatch MP:0008914 semapv:LogicalReasoning Enlarged cerebellum enlarged cerebellum -HP:0012504 skos:exactMatch MP:0008936 semapv:LogicalReasoning Abnormal size of pituitary gland abnormal pituitary gland size -HP:0006424 skos:exactMatch MP:0008951 semapv:LogicalReasoning Elongated radius long radius -HP:0012133 skos:exactMatch MP:0008973 semapv:LogicalReasoning Erythroid hypoplasia decreased erythroid progenitor cell number -HP:0010303 skos:exactMatch MP:0009023 semapv:LogicalReasoning Abnormal spinal meningeal morphology abnormal spinal cord meninges morphology -HP:0040252 skos:exactMatch MP:0009100 semapv:LogicalReasoning Abnormal size of the clitoris abnormal clitoris size -HP:0004510 skos:exactMatch MP:0009171 semapv:LogicalReasoning Pancreatic islet-cell hyperplasia enlarged pancreatic islets -HP:0000978 skos:exactMatch MP:0009276 semapv:LogicalReasoning Bruising susceptibility ecchymosis -HP:0012613 skos:exactMatch MP:0009472 semapv:LogicalReasoning Increased urinary sulfate increased urine sulfate level -HP:0025057 skos:exactMatch MP:0009944 semapv:LogicalReasoning Abnormality of olfactory lobe morphology abnormal olfactory lobe morphology -HP:0008887 skos:exactMatch MP:0010025 semapv:LogicalReasoning Adipose tissue loss decreased total body fat amount -HP:0040326 skos:exactMatch MP:0010059 semapv:LogicalReasoning Hypoplasia of the olfactory bulb olfactory bulb hypoplasia -HP:0040081 skos:exactMatch MP:0010089 semapv:LogicalReasoning Abnormal circulating creatine kinase concentration abnormal circulating creatine kinase level -HP:0003236 skos:exactMatch MP:0010090 semapv:LogicalReasoning Elevated serum creatine kinase increased circulating creatine kinase level -HP:0004348 skos:exactMatch MP:0010119 semapv:LogicalReasoning Abnormality of bone mineral density abnormal bone mineral density -HP:0012093 skos:exactMatch MP:0010147 semapv:LogicalReasoning Abnormality of endocrine pancreas physiology abnormal endocrine pancreas physiology -HP:0012092 skos:exactMatch MP:0010148 semapv:LogicalReasoning Abnormality of exocrine pancreas physiology abnormal exocrine pancreas physiology -HP:0011068 skos:exactMatch MP:0010353 semapv:LogicalReasoning Odontoma increased odontoma incidence -HP:0006568 skos:exactMatch MP:0010400 semapv:LogicalReasoning Increased hepatic glycogen content increased liver glycogen level -HP:0011103 skos:exactMatch MP:0010429 semapv:LogicalReasoning Abnormal left ventricular outflow tract morphology abnormal heart left ventricle outflow tract morphology -HP:0001680 skos:exactMatch MP:0010463 semapv:LogicalReasoning Coarctation of aorta aorta stenosis -HP:0004963 skos:exactMatch MP:0010522 semapv:LogicalReasoning Calcification of the aorta calcified aorta -HP:0004962 skos:exactMatch MP:0010523 semapv:LogicalReasoning Thoracic aorta calcification calcified thoracic aorta -HP:0005303 skos:exactMatch MP:0010524 semapv:LogicalReasoning Aortic arch calcification calcified aortic arch -HP:0005304 skos:exactMatch MP:0010528 semapv:LogicalReasoning Hypoplastic pulmonary veins pulmonary vein hypoplasia -HP:0011138 skos:exactMatch MP:0010678 semapv:LogicalReasoning Abnormality of skin adnexa morphology abnormal skin adnexa morphology -HP:0100671 skos:exactMatch MP:0010867 semapv:LogicalReasoning Abnormal trabecular bone morphology abnormal bone trabecula morphology -HP:0002043 skos:exactMatch MP:0010884 semapv:LogicalReasoning Esophageal stricture esophagus stenosis -HP:0012676 skos:exactMatch MP:0011214 semapv:LogicalReasoning Copper accumulation in brain increased brain copper level -HP:0000092 skos:exactMatch MP:0011346 semapv:LogicalReasoning Tubular atrophy renal tubule atrophy -HP:0002119 skos:exactMatch MP:0011380 semapv:LogicalReasoning Ventriculomegaly enlarged brain ventricles -HP:0000028 skos:exactMatch MP:0011410 semapv:LogicalReasoning Cryptorchidism ectopic testis -HP:0011935 skos:exactMatch MP:0011424 semapv:LogicalReasoning Decreased urinary urate decreased urine uric acid level -HP:0012601 skos:exactMatch MP:0011460 semapv:LogicalReasoning Hypochloriduria decreased urine chloride ion level -HP:0045011 skos:exactMatch MP:0011463 semapv:LogicalReasoning Decreased urine bicarbonate concentration decreased urine bicarbonate level -HP:0003541 skos:exactMatch MP:0011473 semapv:LogicalReasoning Urinary glycosaminoglycan excretion increased urine glycosaminoglycan level -HP:0030321 skos:exactMatch MP:0011513 semapv:LogicalReasoning Abnormal vertebral artery morphology abnormal vertebral artery morphology -HP:0012611 skos:exactMatch MP:0011537 semapv:LogicalReasoning Increased urinary urate uraturia -HP:0012517 skos:exactMatch MP:0011594 semapv:LogicalReasoning Reduced catalase activity decreased catalase activity -HP:0001010 skos:exactMatch MP:0011627 semapv:LogicalReasoning Hypopigmentation of the skin decreased skin pigmentation -HP:0040014 skos:exactMatch MP:0011628 semapv:LogicalReasoning Increased mitochondrial number increased mitochondria number -HP:0040013 skos:exactMatch MP:0011629 semapv:LogicalReasoning Decreased mitochondrial number decreased mitochondria number -HP:0010906 skos:exactMatch MP:0011652 semapv:LogicalReasoning Hyperhistidinemia increased circulating histidine level -HP:0500145 skos:exactMatch MP:0011653 semapv:LogicalReasoning Hypohistidinemia decreased circulating histidine level -HP:0012688 skos:exactMatch MP:0011728 semapv:LogicalReasoning Abnormality of pineal physiology abnormal pineal gland physiology -HP:0005235 skos:exactMatch MP:0011878 semapv:LogicalReasoning Jejunal atresia jejunum atresia -HP:0011102 skos:exactMatch MP:0011879 semapv:LogicalReasoning Ileal atresia ileum atresia -HP:0011486 skos:exactMatch MP:0011961 semapv:LogicalReasoning Abnormality of corneal thickness abnormal cornea thickness -HP:0011487 skos:exactMatch MP:0011962 semapv:LogicalReasoning Increased corneal thickness increased cornea thickness -HP:0100512 skos:exactMatch MP:0012336 semapv:LogicalReasoning Low levels of vitamin D decreased vitamin D level -HP:0007705 skos:exactMatch MP:0012351 semapv:LogicalReasoning Corneal degeneration cornea degeneration -HP:0012310 skos:exactMatch MP:0012441 semapv:LogicalReasoning Abnormal monocyte count abnormal monocyte cell number -HP:0031806 skos:exactMatch MP:0012442 semapv:LogicalReasoning Abnormal basophil count abnormal basophil cell number -HP:3000062 skos:exactMatch MP:0012730 semapv:LogicalReasoning Abnormal internal carotid artery morphology abnormal internal carotid artery morphology -HP:0011073 skos:exactMatch MP:0013129 semapv:LogicalReasoning Abnormality of dental color abnormal tooth color -HP:0000190 skos:exactMatch MP:0013263 semapv:LogicalReasoning Abnormal oral frenulum morphology abnormal tongue frenulum morphology -HP:0430009 skos:exactMatch MP:0013395 semapv:LogicalReasoning Hypoplasia of eyelid eyelid hypoplasia -HP:0007734 skos:exactMatch MP:0013453 semapv:LogicalReasoning Enlarged lacrimal glands enlarged lacrimal gland -HP:0020047 skos:exactMatch MP:0013658 semapv:LogicalReasoning Abnormal myeloid cell morphology abnormal myeloid cell morphology -HP:0500133 skos:exactMatch MP:0013724 semapv:LogicalReasoning Hypotyrosinemia decreased circulating tyrosine level -HP:0007774 skos:exactMatch MP:0013743 semapv:LogicalReasoning Hypoplasia of the ciliary body ciliary body hypoplasia -HP:0008165 skos:exactMatch MP:0013764 semapv:LogicalReasoning Decreased proportion circulating T-helper cells decreased T-helper cell number -HP:0100596 skos:exactMatch MP:0013791 semapv:LogicalReasoning Absent nares absent external nares -HP:0009145 skos:exactMatch MP:0013821 semapv:LogicalReasoning Abnormal cerebral artery morphology abnormal cerebral artery morphology -HP:0010764 skos:exactMatch MP:0013898 semapv:LogicalReasoning Short eyelashes short eyelid cilia -HP:0011756 skos:exactMatch MP:0013926 semapv:LogicalReasoning Posterior pituitary agenesis absent neurohypophysis -HP:0011473 skos:exactMatch MP:0014078 semapv:LogicalReasoning Villous atrophy small intestinal villus atrophy -HP:0030326 skos:exactMatch MP:0020202 semapv:LogicalReasoning Abnormal macrophage count abnormal macrophage cell number -HP:0012675 skos:exactMatch MP:0020365 semapv:LogicalReasoning Iron accumulation in brain increased brain iron level -HP:0003166 skos:exactMatch MP:0020405 semapv:LogicalReasoning Increased urinary taurine taurinuria -HP:0003572 skos:exactMatch MP:0020837 semapv:LogicalReasoning Low plasma citrulline decreased circulating citrulline level -HP:0002007 skos:exactMatch MP:0030049 semapv:LogicalReasoning Frontal bossing prominent forehead -HP:0040309 skos:exactMatch MP:0030050 semapv:LogicalReasoning Increased size of the mandible large mandible -HP:0001593 skos:exactMatch MP:0030080 semapv:LogicalReasoning Maxillary lateral incisor microdontia small lower incisors -HP:0010669 skos:exactMatch MP:0030112 semapv:LogicalReasoning Hypoplasia of the zygomatic bone zygomatic bone hypoplasia -HP:0007628 skos:exactMatch MP:0030259 semapv:LogicalReasoning Mandibular condyle hypoplasia mandibular condyloid process hypoplasia -HP:0000278 skos:exactMatch MP:0030273 semapv:LogicalReasoning Retrognathia mandibular retrognathia -HP:0005469 skos:exactMatch MP:0030289 semapv:LogicalReasoning Flat occiput flat occipital bone -HP:0008551 skos:exactMatch MP:0030297 semapv:LogicalReasoning Microtia outer ear hypoplasia -HP:0000272 skos:exactMatch MP:0030377 semapv:LogicalReasoning Malar flattening zygomatic arch hypoplasia -HP:0006308 skos:exactMatch MP:0030466 semapv:LogicalReasoning Atrophy of alveolar ridges alveolar process atrophy -HP:0500181 skos:exactMatch MP:0030638 semapv:LogicalReasoning Hypertaurinemia increased circulating taurine level -HP:0500182 skos:exactMatch MP:0030639 semapv:LogicalReasoning Hypotaurinemia decreased circulating taurine level -HP:0500136 skos:exactMatch MP:0030704 semapv:LogicalReasoning Hypothreoninemia decreased circulating threonine level -HP:0500132 skos:exactMatch MP:0030728 semapv:LogicalReasoning Hypovalinemia decreased circulating valine level -HP:0500253 skos:exactMatch MP:0030734 semapv:LogicalReasoning Increased level of gamma-aminobutyric acid in urine increased urine gamma-aminobutyric acid level -HP:0003345 skos:exactMatch MP:0030772 semapv:LogicalReasoning Elevated urinary norepinephrine increased urine noradrenaline level -HP:0006261 skos:exactMatch MP:0030813 semapv:LogicalReasoning Abnormal phalangeal joint morphology of the hand abnormal hand interphalangeal joint morphology diff --git a/project.Makefile b/project.Makefile index 48602770..ea395dbb 100644 --- a/project.Makefile +++ b/project.Makefile @@ -10,4 +10,32 @@ build: poetry build pypi: - poetry publish \ No newline at end of file + poetry publish + +####################################### +##### Mapping validation ############# +####################################### + +MAPPING_DIR_SCHEMA=examples/schema +MAPPING_DIR_EMBEDDED=examples/embedded +TMPDIR = tmp + +validate-example-schema-%: + tsvalid $(MAPPING_DIR_SCHEMA)/$*.sssom.tsv --comment "#" --skip E1 + sssom validate $(MAPPING_DIR_SCHEMA)/$*.sssom.tsv + sssom convert $(MAPPING_DIR_SCHEMA)/$*.sssom.tsv -o $(TMPDIR)/schema-$*.sssom.ttl + +validate-example-embedded-%: + tsvalid $(MAPPING_DIR_EMBEDDED)/$*.sssom.tsv --comment "#" --skip E1 + sssom validate $(MAPPING_DIR_EMBEDDED)/$*.sssom.tsv + sssom convert $(MAPPING_DIR_EMBEDDED)/$*.sssom.tsv -o $(TMPDIR)/embedded-$*.sssom.ttl + +MAPPINGS_SCHEMA=$(notdir $(wildcard $(MAPPING_DIR_SCHEMA)/*.sssom.tsv)) +VALIDATE_MAPPINGS_SCHEMA=$(patsubst %.sssom.tsv, validate-example-schema-%, $(notdir $(wildcard $(MAPPING_DIR_SCHEMA)/*.sssom.tsv))) + +MAPPINGS_EMBEDDED=$(notdir $(wildcard $(MAPPING_DIR_EMBEDDED)/*.sssom.tsv)) +VALIDATE_MAPPINGS_EMBEDDED=$(patsubst %.sssom.tsv, validate-example-embedded-%, $(notdir $(wildcard $(MAPPING_DIR_EMBEDDED)/*.sssom.tsv))) + +validate_mappings: + $(MAKE) $(VALIDATE_MAPPINGS_SCHEMA) + $(MAKE) $(VALIDATE_MAPPINGS_EMBEDDED) From 2457ca6aaf3d6c9208751e6999a2a5aab2d5de09 Mon Sep 17 00:00:00 2001 From: Nico Matentzoglu Date: Tue, 14 Mar 2023 13:29:26 +0200 Subject: [PATCH 2/3] Update project.Makefile --- project.Makefile | 1 + 1 file changed, 1 insertion(+) diff --git a/project.Makefile b/project.Makefile index ea395dbb..59c706bb 100644 --- a/project.Makefile +++ b/project.Makefile @@ -21,6 +21,7 @@ MAPPING_DIR_EMBEDDED=examples/embedded TMPDIR = tmp validate-example-schema-%: + mkdir -p $(TMPDIR) tsvalid $(MAPPING_DIR_SCHEMA)/$*.sssom.tsv --comment "#" --skip E1 sssom validate $(MAPPING_DIR_SCHEMA)/$*.sssom.tsv sssom convert $(MAPPING_DIR_SCHEMA)/$*.sssom.tsv -o $(TMPDIR)/schema-$*.sssom.ttl From 71e1c755cc017166facc644753dc71f612d77e93 Mon Sep 17 00:00:00 2001 From: Nico Matentzoglu Date: Tue, 14 Mar 2023 13:42:05 +0200 Subject: [PATCH 3/3] Update project.Makefile --- project.Makefile | 1 + 1 file changed, 1 insertion(+) diff --git a/project.Makefile b/project.Makefile index 59c706bb..b7bcee13 100644 --- a/project.Makefile +++ b/project.Makefile @@ -27,6 +27,7 @@ validate-example-schema-%: sssom convert $(MAPPING_DIR_SCHEMA)/$*.sssom.tsv -o $(TMPDIR)/schema-$*.sssom.ttl validate-example-embedded-%: + mkdir -p $(TMPDIR) tsvalid $(MAPPING_DIR_EMBEDDED)/$*.sssom.tsv --comment "#" --skip E1 sssom validate $(MAPPING_DIR_EMBEDDED)/$*.sssom.tsv sssom convert $(MAPPING_DIR_EMBEDDED)/$*.sssom.tsv -o $(TMPDIR)/embedded-$*.sssom.ttl