HP:0003146 -- Hypocholesterolemia HP:0003146 -- Hypocholesterolemia 11303 66234 12465 13360 66397 103737 54128 101502 HP:0030814 -- Orange discoloured tonsils HP:0030814 -- Orange discoloured tonsils 11303 HP:0007133 -- Progressive peripheral neuropathy HP:0007133 -- Progressive peripheral neuropathy 11303 11883 17101 68020 HP:0008035 -- Retinitis pigmentosa inversa HP:0008035 -- Retinitis pigmentosa inversa 11304 30952 HP:0002470 -- Nonprogressive cerebellar ataxia HP:0002470 -- Nonprogressive cerebellar ataxia 11306 67713 100072 HP:0100950 -- Decreased activity of 3-hydroxyacyl-CoA dehydrogenase HP:0100950 -- Decreased activity of 3-hydroxyacyl-CoA dehydrogenase 11363 97212 15107 HP:0008305 -- Exercise-induced myoglobinuria HP:0008305 -- Exercise-induced myoglobinuria 11363 11370 18679 243853 18642 18655 HP:0009045 -- Exercise-induced rhabdomyolysis HP:0009045 -- Exercise-induced rhabdomyolysis 11363 11370 HP:0002474 -- Expressive language delay HP:0002474 -- Expressive language delay 11363 239985 50798 18193 19377 100043597 HP:0002045 -- Hypothermia HP:0002045 -- Hypothermia 11363 381091 66885 57279 27369 547431 13166 18510 11977 22110 13195 20274 HP:0011346 -- Mild expressive language delay HP:0011346 -- Mild expressive language delay 11363 HP:0008309 -- Medium chain dicarboxylic aciduria HP:0008309 -- Medium chain dicarboxylic aciduria 11364 HP:0004911 -- Episodic metabolic acidosis HP:0004911 -- Episodic metabolic acidosis 11409 83429 72039 HP:0100519 -- Anuria HP:0100519 -- Anuria 11421 11606 11607 11608 HP:0008660 -- Renotubular dysgenesis HP:0008660 -- Renotubular dysgenesis 11421 11606 11607 11608 HP:0030528 -- Paracentral scotoma HP:0030528 -- Paracentral scotoma 11429 HP:0006555 -- Diffuse hepatic steatosis HP:0006555 -- Diffuse hepatic steatosis 11430 68020 HP:0000547 -- Tapetoretinal degeneration HP:0000547 -- Tapetoretinal degeneration 11430 53885 242653 216274 HP:0007526 -- Hypopigmented skin patches on arms HP:0007526 -- Hypopigmented skin patches on arms 11433 HP:0008818 -- Large iliac wings HP:0008818 -- Large iliac wings 11433 72345 117592 17128 11977 HP:0002478 -- Progressive spastic quadriplegia HP:0002478 -- Progressive spastic quadriplegia 11433 14667 18823 11846 HP:0004889 -- Intermittent episodes of respiratory insufficiency due to muscle weakness HP:0004889 -- Intermittent episodes of respiratory insufficiency due to muscle weakness 11435 HP:0005905 -- Abnormal cervical curvature HP:0005905 -- Abnormal cervical curvature 11447 11449 13521 286940 11435 382089 HP:0003634 -- Amyoplasia HP:0003634 -- Amyoplasia 11447 11449 63873 11435 HP:0001040 -- Multiple pterygia HP:0001040 -- Multiple pterygia 11447 11449 17883 11435 HP:0003402 -- Decreased miniature endplate potentials HP:0003402 -- Decreased miniature endplate potentials 11448 11435 HP:0003397 -- Generalized hypotonia due to defect at the neuromuscular junction HP:0003397 -- Generalized hypotonia due to defect at the neuromuscular junction 11448 HP:0008729 -- Absence of labia majora HP:0008729 -- Absence of labia majora 11449 HP:0009760 -- Antecubital pterygium HP:0009760 -- Antecubital pterygium 11449 16917 HP:0009761 -- Anterior clefting of vertebral bodies HP:0009761 -- Anterior clefting of vertebral bodies 11449 HP:0005617 -- Bilateral camptodactyly HP:0005617 -- Bilateral camptodactyly 11449 HP:0006446 -- Dysplastic patella HP:0006446 -- Dysplastic patella 11449 HP:0004459 -- Exostosis of the external auditory canal HP:0004459 -- Exostosis of the external auditory canal 11449 HP:0009759 -- Neck pterygia HP:0009759 -- Neck pterygia 11449 HP:0040095 -- Neoplasm of the outer ear HP:0040095 -- Neoplasm of the outer ear 11449 HP:0003810 -- Late-onset distal muscle weakness HP:0003810 -- Late-onset distal muscle weakness 11459 58916 17996 HP:0031189 -- Wrist drop HP:0031189 -- Wrist drop 11459 HP:0100770 -- Hyperperistalsis HP:0100770 -- Hyperperistalsis 11475 HP:0007866 -- Retinal infarction HP:0007866 -- Retinal infarction 11475 HP:0011986 -- Ectopic ossification HP:0011986 -- Ectopic ossification 11477 14683 23959 HP:0011989 -- Ectopic ossification in ligament tissue HP:0011989 -- Ectopic ossification in ligament tissue 11477 HP:0011987 -- Ectopic ossification in muscle tissue HP:0011987 -- Ectopic ossification in muscle tissue 11477 14683 HP:0011988 -- Ectopic ossification in tendon tissue HP:0011988 -- Ectopic ossification in tendon tissue 11477 HP:0008449 -- Progressive cervical vertebral spine fusion HP:0008449 -- Progressive cervical vertebral spine fusion 11477 HP:0004629 -- Small cervical vertebral bodies HP:0004629 -- Small cervical vertebral bodies 11477 HP:0010452 -- Ectopia of the spleen HP:0010452 -- Ectopia of the spleen 11481 HP:0002849 -- Absence of lymph node germinal center HP:0002849 -- Absence of lymph node germinal center 11486 102638047 21939 21947 HP:0005424 -- Absent specific antibody response HP:0005424 -- Absent specific antibody response 11486 HP:0030813 -- Absent tonsils HP:0030813 -- Absent tonsils 11486 227525 HP:0025379 -- Anti-thyroid peroxidase antibody positivity HP:0025379 -- Anti-thyroid peroxidase antibody positivity 11486 HP:0005359 -- Aplasia of the thymus HP:0005359 -- Aplasia of the thymus 11486 227525 HP:0007549 -- Desquamation of skin soon after birth HP:0007549 -- Desquamation of skin soon after birth 11486 14466 110948 227525 19373 16186 19374 21816 319583 26363 320790 26569 16197 HP:0008348 -- Immunoglobulin IgG2 deficiency HP:0008348 -- Immunoglobulin IgG2 deficiency 11486 11920 100502841 51797 HP:0005354 -- Lack of T cell function HP:0005354 -- Lack of T cell function 11486 11637 HP:0031690 -- Opportunistic infection HP:0031690 -- Opportunistic infection 11486 16197 19373 19374 18950 19264 HP:0005390 -- Recurrent opportunistic infections HP:0005390 -- Recurrent opportunistic infections 11486 16197 19373 19374 18950 19264 HP:0030273 -- Reduced red cell adenosine deaminase activity HP:0030273 -- Reduced red cell adenosine deaminase activity 11486 HP:0005365 -- Severe B lymphocytopenia HP:0005365 -- Severe B lymphocytopenia 11486 227525 18034 19373 19374 HP:0200136 -- Oral-pharyngeal dysphagia HP:0200136 -- Oral-pharyngeal dysphagia 11512 19377 59007 270627 53321 11886 27883 HP:0001680 -- Coarctation of aorta HP:0001680 -- Coarctation of aorta 11534 16653 14247 14613 14616 140781 109905 215449 19247 381022 72345 66863 22661 18176 109880 13018 14634 13360 16449 12235 76355 12236 12627 15461 19300 22431 14465 77683 18091 20085 21674 60365 107932 14182 18092 14464 74392 20897 100043597 12237 57246 26395 74360 69716 244049 21351 22289 216560 19228 11819 18128 21380 17536 380718 17128 17130 19046 20663 HP:0002904 -- Hyperbilirubinemia HP:0002904 -- Hyperbilirubinemia 11534 235504 72026 16159 16161 101502 623661 73046 71819 104799 16000 15275 27390 11733 272382 233405 16596 235293 18510 18646 17117 27369 50799 20741 14775 208665 19298 18770 27413 16534 16973 28253 18985 27056 54670 19089 98386 12780 18642 140740 12896 230163 28253 14381 14380 320938 19743 13830 20533 HP:0001786 -- Narrow foot HP:0001786 -- Narrow foot 11534 54633 224024 17257 21413 HP:0006580 -- Portal fibrosis HP:0006580 -- Portal fibrosis 11534 18670 77048 HP:0007377 -- Abnormality of somatosensory evoked potentials HP:0007377 -- Abnormality of somatosensory evoked potentials 11552 104086 HP:0001326 -- EEG with irregular generalized spike and wave complexes HP:0001326 -- EEG with irregular generalized spike and wave complexes 11552 224617 12889 HP:0010852 -- EEG with photoparoxysmal response HP:0010852 -- EEG with photoparoxysmal response 11552 HP:0001340 -- Enhancement of the C-reflex HP:0001340 -- Enhancement of the C-reflex 11552 HP:0001312 -- Giant somatosensory evoked potentials HP:0001312 -- Giant somatosensory evoked potentials 11552 HP:0001351 -- Jerk-locked premyoclonus spikes HP:0001351 -- Jerk-locked premyoclonus spikes 11552 HP:0045057 -- Decreased levels of alpha-fetoprotein HP:0045057 -- Decreased levels of alpha-fetoprotein 11576 HP:0012068 -- Aspartylglucosaminuria HP:0012068 -- Aspartylglucosaminuria 11593 HP:0005285 -- Absent nasal bridge HP:0005285 -- Absent nasal bridge 11595 HP:0007281 -- Developmental stagnation HP:0007281 -- Developmental stagnation 11595 12091 18226 20454 16572 108686 94178 448850 71732 HP:0003370 -- Flat capital femoral epiphysis HP:0003370 -- Flat capital femoral epiphysis 11595 12824 12839 68427 21387 110033 83925 13521 214505 192169 HP:0030289 -- Flattened femoral epiphysis HP:0030289 -- Flattened femoral epiphysis 11595 12824 12839 68427 21387 110033 83925 13521 214505 192169 HP:0010886 -- Osteochondritis Dissecans HP:0010886 -- Osteochondritis Dissecans 11595 17127 HP:0040188 -- Osteochondrosis HP:0040188 -- Osteochondrosis 11595 14182 16653 11465 17127 HP:0002651 -- Spondyloepimetaphyseal dysplasia HP:0002651 -- Spondyloepimetaphyseal dysplasia 11595 12824 17386 23972 17182 77006 12111 117592 18214 110033 94181 HP:0002655 -- Spondyloepiphyseal dysplasia HP:0002655 -- Spondyloepiphyseal dysplasia 11595 12824 381314 12814 54380 53374 63873 66226 HP:0012702 -- Tenesmus HP:0012702 -- Tenesmus 11605 HP:0030507 -- Retinal crystals HP:0030507 -- Retinal crystals 11611 HP:0200011 -- Abnormal length of corpus callosum HP:0200011 -- Abnormal length of corpus callosum 11625 16420 HP:0200012 -- Short corpus callosum HP:0200012 -- Short corpus callosum 11625 16420 HP:0002959 -- Impaired Ig class switch recombination HP:0002959 -- Impaired Ig class switch recombination 11628 21939 22256 21947 HP:0004798 -- Recurrent infection of the gastrointestinal tract HP:0004798 -- Recurrent infection of the gastrointestinal tract 11628 57916 18035 27354 18968 102339 HP:0009808 -- Anomaly of the upper limb diaphyses HP:0009808 -- Anomaly of the upper limb diaphyses 11632 245424 HP:0003859 -- Cortical diaphyseal thickening of the upper limbs HP:0003859 -- Cortical diaphyseal thickening of the upper limbs 11632 245424 HP:0040278 -- Prolactinoma HP:0040278 -- Prolactinoma 11632 14683 17283 HP:0001345 -- Psychotic mentation HP:0001345 -- Psychotic mentation 11632 14854 84092 HP:0200015 -- Symmetric great toe depigmentation HP:0200015 -- Symmetric great toe depigmentation 11632 HP:0200120 -- Chronic active hepatitis HP:0200120 -- Chronic active hepatitis 11634 HP:0200123 -- Chronic hepatitis HP:0200123 -- Chronic hepatitis 11634 60504 21947 HP:0011864 -- Elevated plasma pyrophosphate HP:0011864 -- Elevated plasma pyrophosphate 11647 HP:0003491 -- Elevated urine pyrophosphate HP:0003491 -- Elevated urine pyrophosphate 11647 HP:0003282 -- Low alkaline phosphatase HP:0003282 -- Low alkaline phosphatase 11647 72027 HP:0003239 -- Phosphoethanolaminuria HP:0003239 -- Phosphoethanolaminuria 11647 HP:0001024 -- Skin dimple over apex of long bone angulation HP:0001024 -- Skin dimple over apex of long bone angulation 11647 HP:0004606 -- Unossified vertebral bodies HP:0004606 -- Unossified vertebral bodies 11647 109181 73230 HP:0007483 -- Depigmentation-hyperpigmentation of skin HP:0007483 -- Depigmentation-hyperpigmentation of skin 11651 HP:0007403 -- Hypertrophy of skin of soles HP:0007403 -- Hypertrophy of skin of soles 11651 HP:0004472 -- Mandibular hyperostosis HP:0004472 -- Mandibular hyperostosis 11651 HP:0100579 -- Mucosal telangiectasiae HP:0100579 -- Mucosal telangiectasiae 11651 27056 17174 14219 12458 22590 13871 22591 13872 11920 50505 269254 12389 246229 22592 98386 11605 11482 19211 12165 19025 13805 18706 107986 27054 381091 67680 18538 66052 66925 17128 17939 100317 HP:0030684 -- Abnormal adiponectin level HP:0030684 -- Abnormal adiponectin level 11652 16905 14311 16890 HP:0500030 -- Abnormal hepatic glycogen storage HP:0500030 -- Abnormal hepatic glycogen storage 11652 15378 102093 110095 HP:0004361 -- Abnormality of circulating leptin level HP:0004361 -- Abnormality of circulating leptin level 11652 16846 16905 16847 14705 14311 16890 67512 HP:0030685 -- Decreased adiponectin level HP:0030685 -- Decreased adiponectin level 11652 16905 14311 16890 HP:0003292 -- Decreased serum leptin HP:0003292 -- Decreased serum leptin 11652 16846 16905 16847 14705 14311 16890 67512 HP:0030812 -- Enlarged tonsils HP:0030812 -- Enlarged tonsils 11652 15932 21947 HP:0001528 -- Hemihypertrophy HP:0001528 -- Hemihypertrophy 11652 12577 18193 16535 16002 18706 11651 HP:0001325 -- Hypoglycemic coma HP:0001325 -- Hypoglycemic coma 11652 20927 103988 20501 18034 15107 14661 18115 16337 110842 110826 66841 HP:0002173 -- Hypoglycemic seizures HP:0002173 -- Hypoglycemic seizures 11652 20927 18548 18976 103988 20501 229584 83993 15107 14661 19127 16337 HP:0009126 -- Increased adipose tissue HP:0009126 -- Increased adipose tissue 11652 16905 18548 19062 18976 16890 HP:0006568 -- Increased hepatic glycogen content HP:0006568 -- Increased hepatic glycogen content 11652 15378 102093 110095 HP:0008993 -- Increased intraabdominal fat HP:0008993 -- Increased intraabdominal fat 11652 16905 16890 HP:0003584 -- Late onset HP:0003584 -- Late onset 11652 21410 20927 65115 140491 24131 103988 18506 66939 11816 HP:0001958 -- Nonketotic hypoglycemia HP:0001958 -- Nonketotic hypoglycemia 11652 12896 229211 11363 381157 241226 11370 80857 19713 17283 HP:0012187 -- Increased erythrocyte protoporphyrin concentration HP:0012187 -- Increased erythrocyte protoporphyrin concentration 11656 HP:0003533 -- Delayed oxidation of acetaldehyde HP:0003533 -- Delayed oxidation of acetaldehyde 11669 HP:0001033 -- Facial flushing after alcohol intake HP:0001033 -- Facial flushing after alcohol intake 11669 HP:0007727 -- Opacification of the corneal epithelium HP:0007727 -- Opacification of the corneal epithelium 11671 HP:0001264 -- Spastic diplegia HP:0001264 -- Spastic diplegia 11671 71458 20674 56292 54633 108012 14415 192176 30956 270076 14325 73046 58523 226407 11433 27360 270627 12387 18950 27883 20476 15488 HP:0002942 -- Thoracic kyphosis HP:0002942 -- Thoracic kyphosis 11671 12824 77087 192652 217119 110006 12552 230103 54380 16871 72345 217664 432486 69190 67724 17159 57357 320595 66226 HP:0010720 -- Abnormal hair pattern HP:0010720 -- Abnormal hair pattern 11694 21384 22652 72584 16653 229731 107723 110157 22222 15530 228790 11966 231470 27385 66863 54638 54352 230866 21406 17159 18176 84035 114713 50798 21453 107823 24116 228368 20591 24061 11878 20016 70315 22427 12889 18624 18193 71382 224824 11465 116701 27354 20928 13345 21674 64930 17984 20466 74392 22417 77018 14815 20130 320595 108138 100043597 93760 108699 56392 14562 81004 28114 12914 21418 20399 56384 329872 17536 72727 70527 22771 11449 22160 67231 386612 17285 19769 74053 12785 217119 71586 20018 107975 209630 319583 242022 21818 51792 72416 108672 235626 226407 19330 19247 16000 22209 13641 18015 16905 109880 13006 104859 52323 223593 72895 94181 15446 24059 16523 98732 17318 19298 67299 77087 67155 14725 14163 69538 214162 114715 57376 13016 16658 13394 14184 14183 15204 74376 21343 13400 79459 353204 11674 54169 68944 319899 26395 381062 26396 26409 71175 59024 84544 328572 666173 18129 18601 18131 53374 19357 20662 15460 20663 HP:0040159 -- Abnormal spaced incisors HP:0040159 -- Abnormal spaced incisors 11694 22589 77087 HP:0002687 -- Abnormality of frontal sinus HP:0002687 -- Abnormality of frontal sinus 11694 22589 12814 18129 20379 13038 68922 12393 192176 11593 16518 68729 HP:0000383 -- Abnormality of periauricular region HP:0000383 -- Abnormality of periauricular region 11694 17684 19335 217119 20018 59036 286940 14613 109905 239985 215449 381022 107701 381694 54638 54352 27366 58198 11733 14734 21453 223593 107823 16518 16449 117146 20016 17342 14735 12889 14463 14465 77087 56292 20475 18091 116701 20356 13016 16658 18503 14182 320790 18092 14679 14464 14183 74392 14048 77018 18163 20471 71458 108699 14836 13666 22289 21418 666173 56384 21380 13617 22762 51810 20349 16576 20624 HP:0004426 -- Abnormality of the cheek HP:0004426 -- Abnormality of the cheek 11694 19335 16653 20666 77945 329795 15530 192176 286940 21413 228790 99586 109905 71279 23876 215449 107701 381694 54638 54352 11977 12931 18176 11733 16560 21453 13521 107823 24055 26875 117146 58859 216274 68642 20016 12889 107045 14463 14465 56292 11465 116701 20356 320790 18092 14464 320634 74392 11632 54616 14048 66910 77018 20464 245424 20471 71458 15932 108699 81004 14836 217718 21418 448850 58234 216560 13614 56384 13617 22762 380718 51810 225131 16576 20624 213081 17684 217119 232987 12156 20018 59036 58805 14613 268396 239985 381022 14118 108686 77480 245866 27366 58198 14734 16905 109880 338370 235293 52323 223593 18706 16518 26908 26905 77559 16449 108954 76355 17342 14735 50709 15461 77087 27078 14174 56454 231214 20475 18091 13016 16658 18503 14182 81896 14679 13717 14183 14683 18163 234740 54169 228960 26395 26396 26409 211660 56708 13666 22289 56738 666173 17434 21380 18129 66826 16551 70430 70430 21871 67978 20349 12568 18541 HP:0009929 -- Abnormality of the columella HP:0009929 -- Abnormality of the columella 11694 56292 70466 11465 56873 20666 14247 11973 109905 215449 381022 217664 381694 106931 18121 22661 13875 208727 100043597 338370 12914 22289 24136 328572 386612 HP:0000599 -- Abnormality of the frontal hairline HP:0000599 -- Abnormality of the frontal hairline 11694 74053 229731 107723 71586 20018 107975 15530 209630 319583 242022 228790 11966 72416 235626 231470 19330 16000 230866 21406 13641 17159 84035 21453 13006 104859 52323 72895 94181 107823 24116 228368 24061 16523 98732 17318 11878 20016 70315 18624 67299 77087 67155 14725 18193 14163 71382 224824 214162 27354 20928 57376 13394 14184 20466 14183 74392 22417 21343 108138 93760 319899 381062 26409 81004 28114 12914 71175 328572 20399 666173 56384 17536 18129 22771 22160 67231 386612 19357 20662 HP:0009553 -- Abnormality of the hairline HP:0009553 -- Abnormality of the hairline 11694 21384 16653 229731 107723 110157 15530 228790 11966 231470 66863 54638 54352 230866 21406 17159 18176 84035 114713 50798 21453 107823 24116 228368 24061 11878 20016 70315 12889 18624 18193 71382 224824 11465 116701 27354 20928 21674 64930 20466 74392 22417 77018 20130 320595 108138 100043597 93760 108699 56392 14562 81004 28114 12914 21418 20399 56384 17536 72727 22771 11449 22160 67231 386612 17285 19769 74053 217119 71586 20018 107975 209630 319583 242022 72416 108672 235626 226407 19330 19247 16000 22209 13641 18015 109880 13006 104859 52323 223593 72895 94181 16523 98732 17318 19298 67299 77087 67155 14725 14163 214162 114715 57376 13016 16658 13394 14184 14183 74376 21343 79459 353204 11674 54169 68944 319899 26395 381062 26396 26409 71175 328572 666173 18129 18131 53374 19357 20662 20663 HP:0000676 -- Abnormality of the incisor HP:0000676 -- Abnormality of the incisor 11694 12144 77087 56292 16151 20423 22409 269941 59056 14165 13394 12814 14184 68525 14183 381694 72308 19206 71458 20473 22589 213575 12914 320924 192170 14632 14633 328572 666173 HP:0001446 -- Abnormality of the musculature of the upper limbs HP:0001446 -- Abnormality of the musculature of the upper limbs 11694 22004 20866 50926 76895 110157 380684 107035 15398 13346 18039 192176 68794 21386 14618 140781 30948 434130 19247 16890 224143 26433 58916 76719 52250 16905 109880 50798 70435 232491 16917 243853 69807 24051 24052 57813 18412 16518 27357 53860 14300 74355 72244 68802 12335 353172 11459 83925 23950 98733 66139 75847 13123 63873 74018 14165 99377 214585 60365 18503 14705 14184 18505 14183 59007 67784 234915 14048 14297 66515 19714 14199 73692 243914 13191 21393 15507 56737 68427 67025 269523 21871 21388 69698 HP:0001435 -- Abnormality of the shoulder girdle musculature HP:0001435 -- Abnormality of the shoulder girdle musculature 11694 22004 50926 76895 110157 13346 192176 21386 140781 30948 434130 19247 224143 58916 16905 109880 50798 232491 243853 69807 24051 24052 57813 18412 16518 27357 53860 14300 74355 72244 68802 12335 11459 83925 23950 98733 66139 75847 63873 99377 60365 18503 18505 67784 14048 66515 19714 14199 243914 56737 269523 21871 21388 HP:0001274 -- Agenesis of corpus callosum HP:0001274 -- Agenesis of corpus callosum 11694 20674 12826 217734 20675 14403 53885 27392 16653 107723 20666 14247 66346 104130 228790 99586 22326 268860 18933 67997 52906 72345 381694 208718 219103 22661 16872 237222 108902 244329 22589 71820 67203 229841 381259 108000 18597 243853 110350 107823 24116 13070 64436 22415 18610 97884 16728 74187 11878 19210 12889 625249 16498 18193 13138 20423 11465 217935 68273 53627 18736 116701 75847 66242 73710 214585 17685 67263 217721 74392 216395 99011 20460 68133 19206 14790 12896 20473 93760 20481 71782 13193 12704 12914 24136 58234 11695 56384 244141 27402 236539 15209 13619 380718 51810 22771 74477 74477 16576 100502841 20476 28135 59036 12159 17688 22152 76574 234729 226407 239985 18518 18424 667742 77480 225523 58198 215494 14734 270669 227095 246313 18027 22142 103199 246179 104174 69562 14633 18032 14634 77044 74754 79456 17318 11864 12236 381644 14735 83922 12316 74682 14725 17350 77683 66308 20586 20587 209027 76832 381293 72776 76123 214444 57376 13016 319757 99100 14182 14183 68259 68703 68519 14194 69051 67283 54169 74653 99730 30928 70673 15159 59024 328572 15526 15228 233064 57810 19127 76464 12568 12571 16795 HP:0006992 -- Anterior basal encephalocele HP:0006992 -- Anterior basal encephalocele 11694 HP:0009120 -- Aplasia-Hypoplasia involving the sinuses HP:0009120 -- Aplasia-Hypoplasia involving the sinuses 11694 22589 19084 26409 13038 68922 192176 11593 68729 12814 71665 18129 72345 238871 20379 12393 HP:0009119 -- Aplasia-Hypoplasia of the frontal sinuses HP:0009119 -- Aplasia-Hypoplasia of the frontal sinuses 11694 22589 12814 18129 20379 13038 68922 12393 192176 11593 68729 HP:0100835 -- Benign neoplasm of the central nervous system HP:0100835 -- Benign neoplasm of the central nervous system 11694 20674 227099 16653 21813 17688 329628 216527 217716 18015 18176 16905 237222 18016 18591 330119 66072 18596 18706 320924 14634 18207 17187 233912 16561 22427 50883 17350 11651 64930 22084 14182 17685 320634 14683 19713 14194 17448 19211 73692 56426 69470 17075 433938 216560 27054 66945 22059 18131 67680 66052 66925 79264 104416 20476 HP:0000455 -- Broad nasal tip HP:0000455 -- Broad nasal tip 11694 11964 58805 286940 99586 11973 268396 239985 16001 320655 218772 18176 19268 13593 66830 26908 26905 77559 110651 98732 244349 70315 67299 14725 19084 208936 53627 14043 75302 13717 229584 67263 270627 54616 320595 108138 76130 214572 71458 15932 230801 73692 69109 26409 244049 22289 21418 21419 12552 56703 11695 229542 192285 16551 21871 12361 70394 HP:0410030 -- Cleft lip HP:0410030 -- Cleft lip 11694 217734 27392 16653 14248 67590 286940 228790 22326 17174 231470 71279 67997 68525 107701 72345 381694 54006 16872 237222 231225 71820 21453 243853 110350 107823 24116 22415 22418 74355 245666 20016 13542 12889 13544 56292 241226 20423 217935 53627 59056 18736 116701 56542 27354 20085 54139 320790 72388 67263 239447 74392 99011 22417 19713 320595 64075 19206 71458 20473 230801 21418 56384 236539 15209 17536 13205 110957 380718 16576 100502841 18194 17285 71988 381157 74053 170441 17701 17702 20018 21815 71693 242022 18004 80752 16480 18424 13641 27366 56876 76719 14734 246313 15433 52323 80857 12549 246179 16917 22601 22218 26908 26905 14633 14634 22061 17318 58235 56749 76355 14735 74682 19207 14163 71997 76832 231214 13016 233865 13394 14182 18505 68259 12388 230824 13400 73692 68944 24069 12550 57265 71175 59024 76510 19377 57810 17128 19127 67978 20349 16795 14234 HP:0000204 -- Cleft upper lip HP:0000204 -- Cleft upper lip 11694 217734 27392 16653 14248 67590 286940 228790 22326 17174 231470 71279 67997 68525 107701 72345 381694 54006 16872 237222 231225 71820 21453 243853 110350 107823 24116 22415 22418 245666 20016 13542 12889 13544 56292 241226 20423 217935 53627 59056 18736 116701 56542 27354 20085 54139 320790 72388 67263 239447 74392 99011 19713 320595 64075 19206 71458 20473 230801 21418 56384 236539 15209 17536 13205 110957 380718 16576 100502841 18194 17285 71988 381157 74053 170441 17701 17702 20018 21815 71693 242022 18004 80752 16480 18424 13641 27366 76719 14734 246313 15433 52323 80857 12549 246179 16917 22601 22218 14633 14634 22061 17318 58235 56749 76355 14735 74682 19207 14163 76832 231214 13016 13394 14182 18505 68259 12388 230824 13400 73692 68944 24069 12550 57265 71175 59024 76510 19377 17128 19127 67978 20349 16795 14234 HP:0000589 -- Coloboma HP:0000589 -- Coloboma 11694 245572 20674 12826 217734 230967 53885 16653 14247 329795 192176 320714 99586 327942 72320 109905 215449 52906 381694 54638 18582 13875 18176 57357 11733 108902 66454 19645 21453 381259 243853 67959 107823 24116 64436 22415 94187 74355 97884 216274 76967 68642 20016 19662 12889 56292 72982 13138 20423 11465 68273 53627 74104 116701 75847 15354 99377 64930 22084 78795 320790 20466 229584 106931 74392 216395 99011 23937 77018 76199 15371 19206 14790 19211 71458 108699 54633 14562 12914 21418 24136 20399 56384 56737 380718 16576 67231 12361 20476 320209 12954 12959 12960 12961 20018 59036 12159 14616 226407 19330 18518 381022 223921 18424 50524 225523 58198 50767 20733 215494 270669 23965 223593 246179 22601 13360 226861 98732 68146 17342 83922 15461 19207 14725 27078 58249 76832 14174 231214 11651 13016 16658 233865 319757 208624 14182 242653 14183 18508 68703 56847 21375 234740 52023 12677 73692 74653 24069 69080 211660 22289 71175 15159 328572 654470 666173 18129 18131 67978 20349 17132 16795 HP:0011361 -- Congenital abnormal hair pattern HP:0011361 -- Congenital abnormal hair pattern 11694 21384 22652 16653 229731 107723 110157 22222 15530 228790 11966 231470 27385 66863 54638 54352 230866 21406 17159 18176 84035 114713 50798 21453 107823 24116 228368 24061 11878 20016 70315 22427 12889 18624 18193 71382 224824 11465 116701 27354 20928 21674 64930 17984 20466 74392 22417 77018 20130 320595 108138 100043597 93760 108699 56392 14562 81004 28114 12914 21418 20399 56384 17536 72727 70527 22771 11449 22160 67231 386612 17285 19769 74053 217119 71586 20018 107975 209630 319583 242022 51792 72416 108672 235626 226407 19330 19247 16000 22209 13641 18015 16905 109880 13006 104859 52323 223593 72895 94181 16523 98732 17318 19298 67299 77087 67155 14725 14163 214162 114715 57376 13016 16658 13394 14184 14183 15204 74376 21343 79459 353204 11674 54169 68944 319899 26395 381062 26396 26409 71175 59024 328572 666173 18129 18131 53374 19357 20662 20663 HP:0004423 -- Cranium bifidum occultum HP:0004423 -- Cranium bifidum occultum 11694 HP:0000699 -- Diastema HP:0000699 -- Diastema 11694 20591 22589 77087 217664 117146 269941 107975 HP:0007541 -- Frontal cutaneous lipoma HP:0007541 -- Frontal cutaneous lipoma 11694 HP:0009890 -- High anterior hairline HP:0009890 -- High anterior hairline 11694 14725 18193 14163 71382 224824 81004 71586 107823 24116 11966 228368 235626 56384 13394 17536 20466 74392 17318 22417 13641 386612 20662 HP:0002738 -- Hypoplastic frontal sinuses HP:0002738 -- Hypoplastic frontal sinuses 11694 12814 20379 12393 192176 11593 68729 HP:0009473 -- Joint contracture of the hand HP:0009473 -- Joint contracture of the hand 11694 21384 22004 72584 14403 19335 14563 12833 67590 15530 12834 192176 12835 17883 228790 21386 327942 329628 13870 13871 12814 13626 12815 72345 12816 18121 246229 22592 19400 12931 12821 230709 103468 330119 224024 56452 13521 17927 382089 20591 22418 381091 231134 226844 26564 16728 69786 83925 100317 13542 16913 13544 16498 56292 18193 16151 16774 71382 20423 224824 80883 18984 56873 11468 53627 16780 13345 66192 16782 27056 13990 68134 20466 320634 12389 66246 64075 100043597 71458 230857 15932 20481 14056 54633 110279 18230 269608 192897 17257 57441 236539 16848 68427 216799 12929 11449 12544 18392 21812 26428 21813 16880 12159 22152 268396 229782 239985 22201 667742 14118 14119 13641 71914 20910 14734 270669 16905 338370 76025 15433 20502 52323 233410 208884 246179 320924 14634 22061 20589 74754 70397 84653 56749 13389 18740 76355 67655 14735 14791 14163 66467 19305 71997 63873 16658 71968 14219 12458 208624 17293 14184 18505 67177 14183 52615 68703 17390 26413 76367 381406 21375 23834 22276 21953 14199 54169 21957 26409 57265 96875 70673 12560 56708 59024 18198 15228 70417 77794 12805 109272 53374 16795 HP:0006931 -- Lipoma of corpus callosum HP:0006931 -- Lipoma of corpus callosum 11694 HP:0100251 -- Lipomas of the central neryous system HP:0100251 -- Lipomas of the central neryous system 11694 14182 HP:0006866 -- Midline central nervous system lipomas HP:0006866 -- Midline central nervous system lipomas 11694 HP:0011062 -- Misalignment of incisors HP:0011062 -- Misalignment of incisors 11694 22589 77087 HP:0100006 -- Neoplasm of the central nervous system HP:0100006 -- Neoplasm of the central nervous system 11694 20674 227099 14403 16653 110157 13866 329628 18176 237222 18591 330119 19645 18596 18207 231646 17187 16561 22427 22154 16498 22431 11789 27354 64930 22084 14030 17685 17686 320634 50868 15926 269951 19713 12394 17448 19206 19211 20481 69470 14573 192119 216560 233826 12064 13616 79264 104416 20476 21813 17688 216527 19247 217716 18015 14734 16905 109880 18016 66072 18706 17172 320924 14634 233912 14735 50883 19207 17350 20587 16973 11651 14182 68703 14683 12387 18102 14194 18935 73692 56426 24069 212307 17075 70673 433938 27054 66945 22059 18131 67680 66052 66925 HP:0004375 -- Neoplasm of the nervous system HP:0004375 -- Neoplasm of the nervous system 11694 20674 12575 227099 12576 14403 16653 18109 12579 110157 12580 13866 329628 18176 237222 22589 18591 330119 18595 19645 18596 18207 231646 17187 16561 23805 22427 22154 16498 22431 11789 18193 217666 27354 13163 64930 22084 14030 14527 17685 17686 320634 50868 15926 269951 19713 12394 17448 19206 19211 17246 20481 69470 14573 192119 216560 233826 12064 13616 79264 104416 17283 20476 21813 17688 235626 216527 19247 217716 85305 18015 14734 16905 109880 18016 109594 66072 18706 17172 320924 14634 233912 209462 14735 50883 15461 19207 17350 19084 20587 16973 114715 11651 14182 68703 14683 12387 18102 14194 18935 73692 56426 24069 212307 16590 17075 70673 433938 11682 21973 27054 66945 22059 18131 67680 66052 66925 HP:0008069 -- Neoplasm of the skin HP:0008069 -- Neoplasm of the skin 11694 12575 227099 12576 74256 16653 12579 12580 16678 110308 16688 16687 21423 13871 13872 50505 246229 22592 16666 18176 16667 218397 18591 18595 26356 18596 76088 14621 18207 13032 14623 80905 217353 17199 22427 17060 11789 16151 16774 18241 53627 16780 16782 64930 22084 22590 17685 18431 22591 320634 50868 13176 19206 216853 19211 17246 13601 21752 107986 192119 20846 104416 17283 22163 12144 22173 58231 21813 17688 14619 14620 217716 18015 68603 270669 16905 74132 18016 28113 228993 211134 18706 12487 12767 18708 110196 15446 24059 79456 20583 50883 217356 15461 19207 17350 19084 241296 22409 245474 114715 12518 15985 11651 22293 319757 14182 12477 18799 83996 83995 12387 21938 14194 70750 24069 16590 17075 192199 52864 27054 70603 192156 22059 17855 18131 67680 66052 66925 12842 HP:0005258 -- Pectoral muscle hypoplasia-aplasia HP:0005258 -- Pectoral muscle hypoplasia-aplasia 11694 66139 67784 19714 21388 21386 99377 HP:0000384 -- Preauricular skin tag HP:0000384 -- Preauricular skin tag 11694 77087 56292 20475 20018 116701 59036 20356 286940 13016 16658 109905 239985 14182 215449 320790 14679 381022 107701 381694 54638 54352 14048 77018 27366 58198 18163 14734 20471 71458 108699 21453 223593 22289 107823 666173 56384 13617 117146 51810 20349 16576 20016 20624 14735 12889 HP:0002000 -- Short columella HP:0002000 -- Short columella 11694 338370 56292 11465 56873 22289 109905 215449 381022 381694 106931 13875 HP:0010609 -- Skin tags HP:0010609 -- Skin tags 11694 20018 59036 286940 109905 239985 215449 381022 107701 381694 54638 54352 27366 58198 14734 21453 223593 18706 107823 117146 20016 14735 12889 19207 77087 56292 14174 69538 20475 116701 20356 11651 13016 16658 64930 22084 14182 320790 14679 14048 77018 18163 19206 20471 19211 71458 68501 108699 24069 22289 59024 666173 56384 13617 51810 20349 16576 20624 HP:0003745 -- Sporadic HP:0003745 -- Sporadic 11694 17869 22652 18548 16452 16653 20869 286940 14613 14616 27385 56490 16002 67847 18176 76719 19164 18595 28113 19645 18027 110460 15433 380664 17762 22215 18706 56717 107823 14633 18032 110651 18472 224132 19210 12889 14460 20044 15461 18227 77683 18193 56454 116701 11651 13016 64930 22084 14182 17984 320790 14184 22095 20466 74392 14683 15204 18102 20473 20481 228960 75841 16590 18294 12914 71175 58234 17260 328572 15228 56384 68276 67680 19377 66052 57810 20349 HP:0006304 -- Widely-spaced incisors HP:0006304 -- Widely-spaced incisors 11694 22589 77087 HP:0001566 -- Widely-spaced maxillary central incisors HP:0001566 -- Widely-spaced maxillary central incisors 11694 22589 77087 HP:0000349 -- Widow's peak HP:0000349 -- Widow's peak 11694 14725 14163 74392 17318 13641 11966 228368 HP:0011803 -- Bifid nose HP:0011803 -- Bifid nose 11695 329872 76832 67263 21387 18015 HP:0000289 -- Broad philtrum HP:0000289 -- Broad philtrum 11695 68944 67155 381062 14163 81004 71693 17132 244962 "HP:0002695 -- Symmetrical, oval parietal bone defects" "HP:0002695 -- Symmetrical, oval parietal bone defects" 11695 17702 HP:0012811 -- Wide nasal ridge HP:0012811 -- Wide nasal ridge 11695 15387 11781 HP:0000682 -- Abnormality of dental enamel HP:0000682 -- Abnormality of dental enamel 11698 73750 103213 11704 66346 104130 110308 286940 434130 71279 56506 50505 66049 219103 12821 50917 12846 237222 245000 21453 269713 229841 17921 225182 21982 22036 13115 20016 19210 98733 11789 16151 16774 71382 56644 11634 224824 22385 16403 22295 53627 16780 16782 64930 22084 171095 320634 110789 12393 66515 19718 68750 19211 30800 57080 72088 252973 12914 192897 16420 108829 76411 12737 105732 15260 213081 18675 13801 94220 16880 20018 69608 80752 16885 74142 56640 14886 245866 18015 238384 218811 270669 12091 11877 67542 18453 16518 18708 22061 13360 22230 58235 15461 11994 74682 228357 71740 14174 237831 11651 14165 13393 99100 81896 14184 16172 13717 16998 14183 14683 18810 11671 228960 208659 22283 15159 20873 27368 328572 21380 70430 70430 14724 18541 22337 HP:3000050 -- Abnormality of odontoid tissue HP:3000050 -- Abnormality of odontoid tissue 11698 73750 103213 11704 14230 66346 104130 110308 286940 434130 71279 56506 50505 66049 219103 12821 50917 12846 237222 245000 21453 269713 229841 17921 666279 225182 21982 22036 13115 20016 19210 98733 11789 16151 16774 71382 56644 11634 224824 22385 16403 22295 53627 16780 16782 64930 22084 171095 320634 110789 12393 66515 19718 64074 68750 19211 30800 57080 72088 12406 19035 252973 12914 192897 16420 108829 76411 12737 105732 15260 213081 18675 13801 94220 16880 20018 69608 80752 73835 16885 74142 195209 56640 14886 245866 18015 238384 218811 270669 12091 11877 67542 18453 16518 18708 22061 13360 22230 58235 15461 11994 74682 228357 71740 14174 237831 11651 14165 13393 99100 81896 14184 16172 13717 16998 14183 14683 18810 11671 228960 208659 22283 15159 20873 27368 328572 21380 70430 70430 14724 18541 12842 22337 12843 HP:0006297 -- Hypoplasia of dental enamel HP:0006297 -- Hypoplasia of dental enamel 11698 16774 71382 11634 71740 16403 53627 11704 16780 286940 16782 14165 80752 74142 81896 14184 14183 50505 320634 66049 14683 18015 18810 12393 12821 11671 237222 245000 228960 67542 252973 12914 192897 16420 16518 328572 12737 13115 18541 22337 HP:0000685 -- Hypoplasia of teeth HP:0000685 -- Hypoplasia of teeth 11698 71586 22222 11704 71991 286940 80752 74142 50505 66049 18015 12821 230709 16905 237222 245000 13608 67542 16518 171211 74355 79456 13115 16774 71382 66308 11634 71740 16403 22409 53627 16780 16782 14165 81896 14184 14183 320634 14683 18810 12393 14790 11671 228960 252973 12914 192897 16420 328572 76411 12737 20334 16576 18541 22337 HP:0009020 -- Exercise-induced muscle fatigue HP:0009020 -- Exercise-induced muscle fatigue 11717 20501 57442 110880 12292 16515 14396 229665 HP:0003738 -- Exercise-induced myalgia HP:0003738 -- Exercise-induced myalgia 11717 16905 20866 19285 11370 20190 18679 56012 69807 12391 19309 229665 HP:0003750 -- Increased muscle fatiguability HP:0003750 -- Increased muscle fatiguability 11717 12401 382985 74129 20501 57442 110880 12292 16515 14396 229665 HP:0004407 -- Bony paranasal bossing HP:0004407 -- Bony paranasal bossing 11732 HP:0006384 -- Club-shaped distal femur HP:0006384 -- Club-shaped distal femur 11732 HP:0012812 -- Fullness of paranasal tissue HP:0012812 -- Fullness of paranasal tissue 11732 HP:0005017 -- Polyarticular chondrocalcinosis HP:0005017 -- Polyarticular chondrocalcinosis 11732 HP:0003763 -- Bruxism HP:0003763 -- Bruxism 11735 15228 208431 68018 320655 17257 58234 HP:0003548 -- Subsarcolemmal accumulations of abnormally shaped mitochondria HP:0003548 -- Subsarcolemmal accumulations of abnormally shaped mitochondria 11739 18975 66383 226153 HP:0010837 -- Decreased serum ceruloplasmin HP:0010837 -- Decreased serum ceruloplasmin 11769 12870 69668 76332 11416 195040 HP:0007384 -- Aberrant melanosome maturation HP:0007384 -- Aberrant melanosome maturation 11774 HP:0008807 -- Acetabular dysplasia HP:0008807 -- Acetabular dysplasia 11774 77573 20019 67489 74376 110006 192170 HP:0001022 -- Albinism HP:0001022 -- Albinism 11774 246694 76633 22173 54652 22178 232946 22293 18431 192232 13618 192236 20170 100502841 17199 17342 94245 HP:0007649 -- Congenital hypertrophy of retinal pigment epithelium HP:0007649 -- Congenital hypertrophy of retinal pigment epithelium 11789 HP:0100245 -- Desmoid tumors HP:0100245 -- Desmoid tumors 11789 12387 HP:0004783 -- Duodenal polyposis HP:0004783 -- Duodenal polyposis 11789 HP:0001849 -- Foot oligodactyly HP:0001849 -- Foot oligodactyly 11789 22421 107701 228357 54485 22410 53627 64075 HP:0002672 -- Gastrointestinal carcinoma HP:0002672 -- Gastrointestinal carcinoma 11789 17350 15235 21813 20869 17688 21413 11651 12166 17685 14184 217716 12387 50768 18176 13176 17075 18706 64095 328572 22059 12006 17128 20779 12236 22427 HP:0002884 -- Hepatoblastoma HP:0002884 -- Hepatoblastoma 11789 12577 18193 16535 16002 14385 14735 14734 HP:0006716 -- Hereditary nonpolyposis colorectal carcinoma HP:0006716 -- Hereditary nonpolyposis colorectal carcinoma 11789 17075 21813 18706 17688 11651 328572 14184 22059 217716 12006 20779 12387 50768 12236 18176 13176 HP:0011512 -- Hyperpigmentation of the fundus HP:0011512 -- Hyperpigmentation of the fundus 11789 12337 216616 HP:0001601 -- Laryngomalacia HP:0001601 -- Laryngomalacia 11789 228357 20682 18984 76832 67590 15530 16688 16687 16688 16687 21386 11973 320790 14183 72308 16666 208727 68750 12846 218811 16667 16905 54169 11877 15433 108075 224024 56452 11886 12914 57441 230793 108829 18032 328572 666173 21380 17536 93736 22230 15260 20349 16576 14724 18541 22427 HP:0100243 -- Leiomyosarcoma HP:0100243 -- Leiomyosarcoma 11789 18706 11651 328572 14184 22059 12006 20779 12387 50768 12236 18176 13176 14194 HP:0006749 -- Malignant gastrointestinal tract tumors HP:0006749 -- Malignant gastrointestinal tract tumors 11789 17350 15235 21813 20869 17688 21413 11651 12166 17685 14184 217716 12387 50768 18176 13176 17075 18706 64095 328572 22059 12006 17128 20779 12236 22427 HP:0001413 -- Micronodular cirrhosis HP:0001413 -- Micronodular cirrhosis 11789 68797 67542 21351 12370 17295 18706 27369 18975 22059 12005 16004 12387 HP:0011068 -- Odontoma HP:0011068 -- Odontoma 11789 14174 HP:0100246 -- Osteoma HP:0100246 -- Osteoma 11789 14683 HP:0030256 -- Small intestinal polyposis HP:0030256 -- Small intestinal polyposis 11789 HP:0006722 -- Small intestine carcinoid HP:0006722 -- Small intestine carcinoid 11789 66925 HP:0006572 -- Subacute progressive viral hepatitis HP:0006572 -- Subacute progressive viral hepatitis 11789 68797 22059 12005 12370 17295 16004 18706 12387 HP:0002890 -- Thyroid carcinoma HP:0002890 -- Thyroid carcinoma 11789 19084 11651 226243 214498 50868 17330 19713 18176 19211 18706 192119 18211 27054 23985 16449 16513 67680 66052 66925 14233 21819 22427 HP:0002891 -- Uterine leiomyosarcoma HP:0002891 -- Uterine leiomyosarcoma 11789 18706 11651 328572 14184 22059 12006 20779 12387 50768 12236 18176 13176 14194 HP:0006562 -- Viral hepatitis HP:0006562 -- Viral hepatitis 11789 12265 68797 12370 17295 53970 18706 170767 19727 22059 12229 12005 16004 12387 HP:0031678 -- Atherosclerotic lesion HP:0031678 -- Atherosclerotic lesion 11816 HP:0012574 -- Mesangial hypercellularity HP:0012574 -- Mesangial hypercellularity 11816 HP:0002635 -- Type IV atherosclerotic lesion HP:0002635 -- Type IV atherosclerotic lesion 11816 HP:0410054 -- Decreased level of GABA in serum HP:0410054 -- Decreased level of GABA in serum 11820 HP:0004968 -- Recurrent cerebral hemorrhage HP:0004968 -- Recurrent cerebral hemorrhage 11820 HP:0004938 -- Tortuous cerebral arteries HP:0004938 -- Tortuous cerebral arteries 11820 HP:0004906 -- Hypernatremic dehydration HP:0004906 -- Hypernatremic dehydration 11827 12000 72432 HP:0001986 -- Hypertonic dehydration HP:0001986 -- Hypertonic dehydration 11827 12000 20537 72432 HP:0040314 -- Blind vagina HP:0040314 -- Blind vagina 11835 HP:0008339 -- Diaminoaciduria HP:0008339 -- Diaminoaciduria 11846 HP:0007936 -- Restrictive external ophthalmoplegia HP:0007936 -- Restrictive external ophthalmoplegia 11859 16564 HP:0008432 -- Anterior wedging of L1 HP:0008432 -- Anterior wedging of L1 11881 HP:0011941 -- Anterior wedging of L2 HP:0011941 -- Anterior wedging of L2 11881 HP:0008301 -- Dermatan sulfate excretion in urine HP:0008301 -- Dermatan sulfate excretion in urine 11881 110006 15931 HP:0005609 -- Gallbladder dysfunction HP:0005609 -- Gallbladder dysfunction 11883 HP:0040139 -- Lipogranulomatosis HP:0040139 -- Lipogranulomatosis 11886 HP:0008955 -- Progressive distal muscular atrophy HP:0008955 -- Progressive distal muscular atrophy 11886 63873 271564 HP:0011125 -- Abnormality of dermal melanosomes HP:0011125 -- Abnormality of dermal melanosomes 11891 11774 22173 17918 18241 17101 17342 HP:0001008 -- Accumulation of melanosomes in melanocytes HP:0001008 -- Accumulation of melanosomes in melanocytes 11891 17918 HP:0002220 -- Melanin pigment aggregation in hair shafts HP:0002220 -- Melanin pigment aggregation in hair shafts 11891 17918 171531 HP:0007443 -- Partial albinism HP:0007443 -- Partial albinism 11891 17918 18505 16590 171531 22178 83409 17342 20583 HP:0002972 -- Reduced delayed hypersensitivity HP:0002972 -- Reduced delayed hypersensitivity 11891 14102 14103 HP:0002218 -- Silver-gray hair HP:0002218 -- Silver-gray hair 11891 17918 171531 HP:0005384 -- Defective B cell activation HP:0005384 -- Defective B cell activation 11920 12370 HP:0005357 -- Defective B cell differentiation HP:0005357 -- Defective B cell differentiation 11920 HP:0005212 -- Anal mucosal leukoplakia HP:0005212 -- Anal mucosal leukoplakia 11938 245474 HP:0008410 -- Subungual hyperkeratotic fragments HP:0008410 -- Subungual hyperkeratotic fragments 11938 HP:0007529 -- Hidrotic ectodermal dysplasia HP:0007529 -- Hidrotic ectodermal dysplasia 11966 HP:0005322 -- Prominent nasal septum HP:0005322 -- Prominent nasal septum 11966 HP:0025201 -- Abnormal apolipoprotein level HP:0025201 -- Abnormal apolipoprotein level 11973 21871 11964 HP:0025082 -- Abnormal cutaneous elastic fiber morphology HP:0025082 -- Abnormal cutaneous elastic fiber morphology 11973 21871 11964 HP:0010761 -- Broad columella HP:0010761 -- Broad columella 11973 14247 208727 100043597 HP:0025167 -- Fragmented elastic fibers in the dermis HP:0025167 -- Fragmented elastic fibers in the dermis 11973 21871 11964 HP:0007457 -- Prominent veins on trunk HP:0007457 -- Prominent veins on trunk 11973 21871 11964 19016 HP:0002361 -- Psychomotor deterioration HP:0002361 -- Psychomotor deterioration 11973 12752 15211 19063 21871 18823 11964 HP:0005989 -- Redundant neck skin HP:0005989 -- Redundant neck skin 11973 15461 234729 21384 64655 71382 103199 21871 11964 66242 HP:0025244 -- Subretinal pigment epithelium hemorrhage HP:0025244 -- Subretinal pigment epithelium hemorrhage 11973 21871 11964 HP:0006891 -- Thick cerebral cortex HP:0006891 -- Thick cerebral cortex 11973 19699 217734 99011 21871 246179 243853 11964 16795 HP:0100874 -- Thick hair HP:0100874 -- Thick hair 11973 666173 93736 13006 20466 52323 21871 11977 11964 228790 102339 HP:0005302 -- Carotid artery tortuosity HP:0005302 -- Carotid artery tortuosity 11977 HP:0003874 -- Humerus varus HP:0003874 -- Humerus varus 11977 HP:0000472 -- Long neck HP:0000472 -- Long neck 11977 14048 192176 235439 HP:0200122 -- Atypical or prolonged hepatitis HP:0200122 -- Atypical or prolonged hepatitis 11979 HP:0200032 -- Kayser-Fleischer ring HP:0200032 -- Kayser-Fleischer ring 11979 HP:0007327 -- Mixed demyelinating and axonal polyneuropathy HP:0007327 -- Mixed demyelinating and axonal polyneuropathy 11979 HP:0000375 -- Abnormal cochlea morphology HP:0000375 -- Abnormal cochlea morphology 11994 208518 72088 18392 17921 94216 22295 229320 20475 23985 17986 56506 16513 12810 14048 14233 15115 320209 20471 HP:0012377 -- Hemianopia HP:0012377 -- Hemianopia 11994 73750 22295 56506 11632 110789 12387 15115 109880 208518 72088 17921 22283 229320 17283 HP:0100753 -- Schizophrenia HP:0100753 -- Schizophrenia 11994 73750 22295 14247 14613 14616 68134 56506 110789 15115 68750 12846 218811 208518 72088 11877 17921 22283 11938 229320 208884 22393 108829 59024 11441 21380 19125 22230 15260 14724 HP:0001756 -- Vestibular hypofunction HP:0001756 -- Vestibular hypofunction 11994 208518 72088 22173 17921 22295 229320 56506 15115 17342 HP:0004421 -- Elevated systolic blood pressure HP:0004421 -- Elevated systolic blood pressure 12000 19223 HP:0010584 -- Pseudoepiphyses HP:0010584 -- Pseudoepiphyses 12020 19335 18016 26409 14563 15398 116701 16510 107823 13016 12167 56384 110651 58198 18541 12889 HP:0004288 -- Pseudoepiphyses of hand bones HP:0004288 -- Pseudoepiphyses of hand bones 12020 19335 18016 14563 116701 16510 107823 13016 12167 56384 110651 58198 18541 12889 HP:0010892 -- Abnormality of branched chain family amino acid metabolism HP:0010892 -- Abnormality of branched chain family amino acid metabolism 12039 12040 12041 78038 13382 72039 110842 243382 13171 110826 66841 HP:0008344 -- Elevated plasma branched chain amino acids HP:0008344 -- Elevated plasma branched chain amino acids 12039 12040 13382 243382 13171 HP:0410066 -- Increased level of hippuric acid in urine HP:0410066 -- Increased level of hippuric acid in urine 12039 12040 15356 110821 66904 13171 18478 HP:0045038 -- Gastric lymphoma HP:0045038 -- Gastric lymphoma 12042 HP:0012123 -- Posterior uveitis HP:0012123 -- Posterior uveitis 12042 11796 240354 HP:0008275 -- Abnormal light-adapted electroretinogram HP:0008275 -- Abnormal light-adapted electroretinogram 12057 HP:0007641 -- Dyschromatopsia HP:0007641 -- Dyschromatopsia 12057 14539 66271 19126 74006 403187 226641 24115 74143 11429 23958 18975 19893 110855 30952 14539 14686 78600 HP:0011073 -- Abnormality of dental color HP:0011073 -- Abnormality of dental color 12091 15461 11698 73750 13801 16653 208659 17921 22283 94220 237831 16420 18211 66049 110789 50917 18176 HP:0004342 -- Abnormality of galactoside metabolism HP:0004342 -- Abnormality of galactoside metabolism 12091 19025 HP:0004371 -- Abnormality of glycosaminoglycan metabolism HP:0004371 -- Abnormality of glycosaminoglycan metabolism 12091 52120 15932 94178 15586 110006 75612 27029 71665 58911 432486 11881 50917 27419 15931 HP:0003649 -- Abnormality of glycoside metabolism HP:0003649 -- Abnormality of glycoside metabolism 12091 19025 HP:0011020 -- Abnormality of mucopolysaccharide metabolism HP:0011020 -- Abnormality of mucopolysaccharide metabolism 12091 52120 15932 94178 15586 110006 75612 27029 71665 58911 432486 11881 50917 27419 15931 HP:0011012 -- Abnormality of polysaccharide metabolism HP:0011012 -- Abnormality of polysaccharide metabolism 12091 52120 15932 94178 15586 110006 75612 27029 71665 58911 432486 11881 50917 214505 27419 15931 HP:0001014 -- Angiokeratoma HP:0001014 -- Angiokeratoma 12091 19211 71665 17939 11605 110173 11593 HP:0001071 -- Angiokeratoma corporis diffusum HP:0001071 -- Angiokeratoma corporis diffusum 12091 17939 11593 HP:0008430 -- Anterior beaking of lumbar vertebrae HP:0008430 -- Anterior beaking of lumbar vertebrae 12091 71665 110006 11593 HP:0008515 -- Aplasia-Hypoplasia of the vertebrae HP:0008515 -- Aplasia-Hypoplasia of the vertebrae 12091 20674 242585 19084 26409 70300 20682 77006 13521 192176 63873 286940 229658 20085 71279 16332 12814 18129 58911 238871 11477 98386 18194 20476 HP:0007313 -- Cerebral degeneration HP:0007313 -- Cerebral degeneration 12091 74450 HP:0010729 -- Cherry red spot of the macula HP:0010729 -- Cherry red spot of the macula 12091 15211 20597 15212 19025 18010 14667 11886 HP:0003277 -- Constricted iliac wings HP:0003277 -- Constricted iliac wings 12091 50917 HP:0008166 -- Decreased beta-galactosidase activity HP:0008166 -- Decreased beta-galactosidase activity 12091 19025 HP:0002869 -- Flared iliac wings HP:0002869 -- Flared iliac wings 12091 15932 17386 19335 117592 12914 192176 328572 432486 12111 18214 77573 11881 214505 16147 14735 14734 625249 HP:0000904 -- Flaring of rib cage HP:0000904 -- Flaring of rib cage 12091 117592 50917 HP:0003651 -- Foam cells HP:0003651 -- Foam cells 12091 18145 67963 20597 235293 HP:0000683 -- Grayish enamel HP:0000683 -- Grayish enamel 12091 50917 HP:0003274 -- Hypoplastic acetabulae HP:0003274 -- Hypoplastic acetabulae 12091 69190 11881 HP:0008479 -- Hypoplastic vertebral bodies HP:0008479 -- Hypoplastic vertebral bodies 12091 242585 71279 16332 19084 70300 58911 238871 11477 98386 229658 HP:0005292 -- Intimal thickening in the coronary arteries HP:0005292 -- Intimal thickening in the coronary arteries 12091 HP:0012069 -- Keratan sulfate excretion in urine HP:0012069 -- Keratan sulfate excretion in urine 12091 50917 15586 HP:0008155 -- Mucopolysacchariduria HP:0008155 -- Mucopolysacchariduria 12091 52120 15932 15586 110006 75612 27029 71665 58911 432486 11881 50917 27419 15931 HP:0001223 -- Pointed proximal second through fifth metacarpals HP:0001223 -- Pointed proximal second through fifth metacarpals 12091 50917 HP:0007272 -- Progressive psychomotor deterioration HP:0007272 -- Progressive psychomotor deterioration 12091 15212 14705 HP:0000884 -- Prominent sternum HP:0000884 -- Prominent sternum 12091 22421 69190 11881 50917 HP:0006119 -- Proximal tapering of metacarpals HP:0006119 -- Proximal tapering of metacarpals 12091 50917 110006 HP:0001982 -- Sea-blue histiocytosis HP:0001982 -- Sea-blue histiocytosis 12091 18145 67963 20597 11816 HP:0000900 -- Thickened ribs HP:0000900 -- Thickened ribs 12091 27029 52120 74499 27419 75612 HP:0003049 -- Ulnar deviation of the wrist HP:0003049 -- Ulnar deviation of the wrist 12091 21953 22004 338370 21957 18505 50917 17883 228790 12845 HP:0003541 -- Urinary glycosaminoglycan excretion HP:0003541 -- Urinary glycosaminoglycan excretion 12091 52120 15932 15586 110006 75612 27029 71665 58911 432486 11881 50917 27419 15931 HP:0001922 -- Vacuolated lymphocytes HP:0001922 -- Vacuolated lymphocytes 12091 12752 16889 71665 18010 235504 17159 11593 HP:0008417 -- Vertebral hypoplasia HP:0008417 -- Vertebral hypoplasia 12091 20674 242585 19084 26409 70300 20682 77006 13521 192176 63873 286940 229658 20085 71279 16332 12814 18129 58911 238871 11477 98386 18194 20476 HP:0004573 -- Anterior wedging of T11 HP:0004573 -- Anterior wedging of T11 12111 HP:0011940 -- Anterior wedging of T12 HP:0011940 -- Anterior wedging of T12 12111 HP:0006371 -- Broad long bone diaphyses HP:0006371 -- Broad long bone diaphyses 12111 HP:0005066 -- Cone-shaped epiphyses fused within their metaphyses HP:0005066 -- Cone-shaped epiphyses fused within their metaphyses 12111 HP:0006059 -- Cone-shaped metacarpal epiphyses HP:0006059 -- Cone-shaped metacarpal epiphyses 12111 16147 625249 HP:0003085 -- Long fibula HP:0003085 -- Long fibula 12111 18214 94181 625249 HP:0003988 -- Long ulna HP:0003988 -- Long ulna 12111 HP:0004981 -- Prominent styloid process of ulna HP:0004981 -- Prominent styloid process of ulna 12111 HP:0004904 -- Maturity-onset diabetes of the young HP:0004904 -- Maturity-onset diabetes of the young 12143 12613 21410 18609 15378 103988 18506 16514 18012 194655 16334 16333 HP:0025502 -- Overweight HP:0025502 -- Overweight 12143 209268 HP:0005107 -- Abnormality of the sacrum HP:0005107 -- Abnormality of the sacrum 12144 381157 19335 15398 16880 232987 237211 66346 104130 286940 319583 228790 16885 235626 17174 329628 15248 239985 381694 21387 14886 54006 13875 11733 70235 76719 14734 269713 15433 18596 80857 13521 107823 24116 229658 22284 66711 18605 72201 22418 22421 26564 18472 23805 13542 14735 12889 625249 13544 233651 241226 18193 70300 22385 214162 116701 13345 13016 20085 14184 71665 13717 14183 270627 73230 98386 19713 12393 21937 13406 19718 57080 14562 57265 18230 28114 223604 22627 15159 58234 59024 27368 84544 19228 56384 15387 18131 110033 17285 21389 HP:0002110 -- Bronchiectasis HP:0002110 -- Bronchiectasis 12144 68922 21423 26942 71279 27410 54167 20387 12525 224897 58909 73293 12478 212892 12482 114602 22092 21944 269400 109620 20389 67685 12767 18707 18708 211535 381091 547431 74030 18033 12010 60504 18034 12638 104346 432611 17060 20276 20277 72049 20278 218630 241296 57916 27354 381738 18753 20387 12518 15985 74708 12520 74108 50770 74180 74407 54562 11920 105000 74934 80877 68270 12902 105833 21752 21354 21355 68001 21356 77609 75564 51938 244653 20846 109785 108689 13411 13436 HP:0000868 -- Decreased fertility in females HP:0000868 -- Decreased fertility in females 12144 14463 22431 20682 18984 22295 21674 14705 26423 11632 59026 26927 240590 80707 14430 13074 13075 26401 22762 109672 18667 67512 17283 20955 11614 HP:0010783 -- Erythema HP:0010783 -- Erythema 12144 12575 12576 12579 103213 12580 16678 16681 66346 104130 110308 84092 319583 327942 386463 14619 16661 14620 13871 11769 13872 50505 235574 246229 22592 16666 54450 20229 270669 18591 12487 14961 14621 15446 381091 14623 14151 20274 18624 16913 57277 209294 76770 20863 16151 18772 56644 12258 22409 53627 16536 72027 23801 22778 171095 22590 11491 22591 12477 16172 72512 234779 11632 21937 21938 108138 11671 70750 13030 16590 11830 107986 15159 11686 54483 74176 216799 17855 12842 17283 HP:0005598 -- Facial telangiectasia in butterfly midface distribution HP:0005598 -- Facial telangiectasia in butterfly midface distribution 12144 20672 HP:0001620 -- High pitched voice HP:0001620 -- High pitched voice 12144 14600 26428 15530 20356 69608 14705 50505 14265 18163 230709 107373 70235 108138 100043597 16905 74522 240069 74777 12406 18453 225182 68729 59024 18971 54380 74030 108954 77794 16434 18541 HP:0002720 -- IgA deficiency HP:0002720 -- IgA deficiency 12144 12478 11628 72049 11486 12902 21452 16151 16184 57916 56717 22256 12995 19285 11920 234779 80877 54167 54128 21939 21947 HP:0004315 -- IgG deficiency HP:0004315 -- IgG deficiency 12144 72049 12785 16151 57916 19373 19374 11798 22256 13871 11920 54167 70238 51797 12478 11628 11486 12902 20400 21452 102638047 16186 12767 12995 16428 12010 100502841 54128 21939 21947 HP:0002850 -- IgM deficiency HP:0002850 -- IgM deficiency 12144 12478 72049 12785 11486 12902 21452 57916 108723 234779 80877 54167 83409 HP:0002665 -- Lymphoma HP:0002665 -- Lymphoma 12144 17869 17874 19373 19374 240354 17688 319583 21413 54167 18176 22376 215280 12478 12482 101985 28113 19645 227525 21944 269400 68964 21940 12487 18646 22061 381091 18033 18034 79456 623474 50883 72049 17350 57916 245474 11796 11798 27354 18753 12818 12520 74108 66181 12443 12042 12043 17685 320790 12477 11920 12053 67075 12394 21938 108138 216853 19211 17246 52530 11486 12902 20400 66939 16590 21752 28114 16186 17101 13421 22059 19366 16428 20848 16197 16551 18950 HP:0000275 -- Narrow face HP:0000275 -- Narrow face 12144 22004 102857 108011 319583 17883 16885 140781 14118 18121 14886 11977 219103 14265 16905 245000 338370 269713 229841 20502 208884 225182 18032 213452 22036 17772 117146 79456 11459 22427 22385 99100 320790 18505 68134 20466 13717 14048 19718 20471 71458 21953 57080 54633 21957 74777 81004 28114 20873 236794 59024 27368 21380 11443 20190 18131 20349 269514 18541 18194 HP:0000960 -- Sacral dimple HP:0000960 -- Sacral dimple 12144 19335 15398 16880 232987 66346 104130 319583 228790 16885 17174 329628 15248 239985 381694 21387 14886 54006 11733 76719 269713 107823 24116 22284 72201 22418 26564 18472 13542 12889 13544 233651 22385 214162 116701 13016 13717 270627 19718 57080 57265 18230 28114 223604 22627 15159 58234 59024 27368 84544 56384 15387 HP:0010767 -- Sacrococcygeal pilonidal abnormality HP:0010767 -- Sacrococcygeal pilonidal abnormality 12144 19335 15398 16880 232987 66346 104130 319583 228790 16885 17174 329628 15248 239985 381694 21387 14886 54006 11733 76719 269713 107823 24116 22284 72201 22418 22421 26564 18472 13542 12889 13544 233651 22385 214162 116701 13016 13717 270627 19718 57080 57265 18230 28114 223604 22627 15159 58234 59024 27368 84544 56384 15387 HP:0010781 -- Skin dimples HP:0010781 -- Skin dimples 12144 19335 13478 20682 15398 16880 232987 66346 104130 319583 228790 16885 17174 329628 15248 239985 22201 381694 21387 14886 54006 11733 76719 269713 107823 24116 22284 72201 22418 26564 18472 13542 12889 13544 233651 22385 214162 116701 13016 13717 270627 19718 57080 57265 18230 28114 223604 22627 15159 58234 59024 27368 84544 56384 15387 11647 HP:0000274 -- Small face HP:0000274 -- Small face 12144 22004 14600 20682 102857 108011 20018 192176 319583 17883 16885 140781 218271 14118 18121 14886 11977 219103 14265 16905 245000 338370 21453 269713 229841 20502 208884 225182 18032 213452 22036 17772 117146 79456 11459 16337 20016 22427 22385 99100 320790 14184 18505 68134 20466 13717 14048 12393 21375 19718 20471 71458 21953 57080 54633 21957 74777 81004 28114 20873 236794 59024 27368 21380 11443 72727 20190 18131 20349 269514 18541 53374 18194 320209 HP:0005585 -- Spotty hyperpigmentation HP:0005585 -- Spotty hyperpigmentation 12144 23825 HP:0005590 -- Spotty hypopigmentation HP:0005590 -- Spotty hypopigmentation 12144 22209 74104 56724 HP:0002860 -- Squamous cell carcinoma HP:0002860 -- Squamous cell carcinoma 12144 22173 21813 110308 14619 13871 13872 50505 246229 22592 16905 74132 28113 26356 228993 76088 211134 110196 13032 14623 80905 79456 217353 17199 22427 217356 16774 22409 245474 16780 16782 22293 18431 22591 83996 83995 13176 216853 19211 21752 192199 107986 52864 20846 192156 17855 HP:0100585 -- Telangiectasia of the skin HP:0100585 -- Telangiectasia of the skin 12144 12825 74256 15235 170441 12831 84092 319583 21413 71279 13871 13872 50505 246229 22592 71914 11605 16905 218397 22589 101985 28113 269400 68964 18706 64095 18605 18973 381091 217353 17939 100317 22427 217356 16151 22409 245474 22295 53627 20672 27056 13163 74108 66181 14219 12458 22590 22591 11920 12389 98386 11482 108138 216853 12165 52530 13805 21752 107986 14385 27421 66925 17128 HP:0008639 -- Gonadal hypoplasia HP:0008639 -- Gonadal hypoplasia 12155 HP:0004309 -- Ventricular preexcitation HP:0004309 -- Ventricular preexcitation 12156 16784 64930 22084 108099 21393 226646 14387 69606 HP:0001716 -- Wolff-Parkinson-White syndrome HP:0001716 -- Wolff-Parkinson-White syndrome 12156 16784 64930 22084 108099 21393 14387 69606 HP:0010999 -- Aplasia of the optic tract HP:0010999 -- Aplasia of the optic tract 12159 HP:0011000 -- Aplasia-Hypoplasia of the optic tract HP:0011000 -- Aplasia-Hypoplasia of the optic tract 12159 HP:0001472 -- Familial predisposition HP:0001472 -- Familial predisposition 12159 192119 HP:0030276 -- Small scrotum HP:0030276 -- Small scrotum 12159 HP:0010538 -- Small sella turcica HP:0010538 -- Small sella turcica 12159 16872 HP:0008054 -- Abnormal morphology of the vasculature of the conjunctiva HP:0008054 -- Abnormal morphology of the vasculature of the conjunctiva 12165 19025 13805 107986 17174 22590 13871 22591 71665 13872 18538 11920 50505 269254 246229 22592 17128 102566 11605 11482 110173 HP:0000524 -- Conjunctival telangiectasia HP:0000524 -- Conjunctival telangiectasia 12165 19025 13805 107986 17174 22590 13871 22591 13872 18538 11920 50505 269254 246229 22592 17128 11605 11482 HP:0002040 -- Esophageal varix HP:0002040 -- Esophageal varix 12165 241035 319899 16452 13805 54485 74185 14067 12549 12411 18128 16889 108689 101351 17128 11979 19664 11482 HP:0007763 -- Retinal telangiectasia HP:0007763 -- Retinal telangiectasia 12165 13805 68964 226646 14300 108689 17128 11482 "HP:0004406 -- Spontaneous, recurrent epistaxis" "HP:0004406 -- Spontaneous, recurrent epistaxis" 12165 13805 20779 11482 HP:0040273 -- Adenocarcinoma of the intestines HP:0040273 -- Adenocarcinoma of the intestines 12166 11789 17350 17685 15235 17128 64095 21413 HP:0040274 -- Adenocarcinoma of the small intestine HP:0040274 -- Adenocarcinoma of the small intestine 12166 11789 17350 17685 17128 HP:0005227 -- Adenomatous colonic polyposis HP:0005227 -- Adenomatous colonic polyposis 12166 70603 11789 12006 HP:0006771 -- Duodenal adenocarcinoma HP:0006771 -- Duodenal adenocarcinoma 12166 11789 17350 17685 17128 HP:0012183 -- Hyperplastic colonic polyposis HP:0012183 -- Hyperplastic colonic polyposis 12166 HP:0012198 -- Juvenile colonic polyposis HP:0012198 -- Juvenile colonic polyposis 12166 HP:0004394 -- Multiple gastric polyps HP:0004394 -- Multiple gastric polyps 12166 11789 17128 HP:0010010 -- Abnormality of the 2nd metacarpal HP:0010010 -- Abnormality of the 2nd metacarpal 12167 14563 12156 12393 HP:0006263 -- Abnormality of the epiphyses of the 2nd finger HP:0006263 -- Abnormality of the epiphyses of the 2nd finger 12167 14563 12156 HP:0009152 -- Abnormality of the epiphyses of the 5th finger HP:0009152 -- Abnormality of the epiphyses of the 5th finger 12167 14563 12156 HP:0010243 -- Abnormality of the epiphyses of the distal phalanx of finger HP:0010243 -- Abnormality of the epiphyses of the distal phalanx of finger 12167 14563 83925 HP:0010244 -- Abnormality of the epiphyses of the middle phalanges of the hand HP:0010244 -- Abnormality of the epiphyses of the middle phalanges of the hand 12167 14563 12156 83925 HP:0009662 -- Abnormality of the epiphysis of the distal phalanx of the thumb HP:0009662 -- Abnormality of the epiphysis of the distal phalanx of the thumb 12167 14563 HP:0009500 -- Abnormality of the epiphysis of the middle phalanx of the 2nd finger HP:0009500 -- Abnormality of the epiphysis of the middle phalanx of the 2nd finger 12167 14563 12156 HP:0004224 -- Abnormality of the epiphysis of the middle phalanx of the 5th finger HP:0004224 -- Abnormality of the epiphysis of the middle phalanx of the 5th finger 12167 14563 12156 HP:0009543 -- Abnormality of the middle phalanx of the 2nd finger HP:0009543 -- Abnormality of the middle phalanx of the 2nd finger 12167 18109 15433 14563 12156 320522 12393 HP:0009618 -- Abnormality of the proximal phalanx of the thumb HP:0009618 -- Abnormality of the proximal phalanx of the thumb 12167 19335 14184 20466 14183 16147 14165 HP:0009599 -- Abnormality of thumb epiphysis HP:0009599 -- Abnormality of thumb epiphysis 12167 14563 16510 HP:0100387 -- Aplasia of the middle phalanges of the toes HP:0100387 -- Aplasia of the middle phalanges of the toes 12167 14563 HP:0010036 -- Aplasia-Hypoplasia of the 2nd metacarpal HP:0010036 -- Aplasia-Hypoplasia of the 2nd metacarpal 12167 14563 12156 12393 HP:0009641 -- Aplasia-Hypoplasia of the distal phalanx of the thumb HP:0009641 -- Aplasia-Hypoplasia of the distal phalanx of the thumb 12167 19207 24069 26409 192176 19206 99377 HP:0009568 -- Aplasia-Hypoplasia of the middle phalanx of the 2nd finger HP:0009568 -- Aplasia-Hypoplasia of the middle phalanx of the 2nd finger 12167 18109 15433 14563 12156 320522 12393 HP:0009629 -- Aplasia-Hypoplasia of the proximal phalanx of the thumb HP:0009629 -- Aplasia-Hypoplasia of the proximal phalanx of the thumb 12167 14184 14183 16147 14165 HP:0010578 -- Bracket epiphyses HP:0010578 -- Bracket epiphyses 12167 14563 12156 HP:0009489 -- Bracket epiphyses of the 2nd finger HP:0009489 -- Bracket epiphyses of the 2nd finger 12167 14563 12156 HP:0009383 -- Bracket epiphyses of the 5th finger HP:0009383 -- Bracket epiphyses of the 5th finger 12167 14563 12156 HP:0010258 -- Bracket epiphyses of the middle phalanges of the hand HP:0010258 -- Bracket epiphyses of the middle phalanges of the hand 12167 14563 12156 HP:0010229 -- Bracket epiphyses of the phalanges of the hand HP:0010229 -- Bracket epiphyses of the phalanges of the hand 12167 14563 12156 HP:0009514 -- Bracket epiphysis of the middle phalanx of the 2nd finger HP:0009514 -- Bracket epiphysis of the middle phalanx of the 2nd finger 12167 14563 12156 HP:0009204 -- Bracket epiphysis of the middle phalanx of the 5th finger HP:0009204 -- Bracket epiphysis of the middle phalanx of the 5th finger 12167 14563 12156 HP:0001230 -- Broad metacarpals HP:0001230 -- Broad metacarpals 12167 230103 224697 14182 14563 14118 12111 18214 14683 16147 HP:0009606 -- Complete duplication of distal phalanx of the thumb HP:0009606 -- Complete duplication of distal phalanx of the thumb 12167 56873 14563 HP:0010001 -- Complete duplication of the distal phalanges of the hand HP:0010001 -- Complete duplication of the distal phalanges of the hand 12167 56873 14563 380664 HP:0009468 -- Deviation of the 2nd finger HP:0009468 -- Deviation of the 2nd finger 12167 14563 15398 12156 76355 192176 16147 403187 HP:0010326 -- Deviation of the 2nd toe HP:0010326 -- Deviation of the 2nd toe 12167 14563 12156 HP:0100263 -- Distal symphalangism HP:0100263 -- Distal symphalangism 12167 14563 18121 18541 16147 21419 HP:0001204 -- Distal symphalangism of hands HP:0001204 -- Distal symphalangism of hands 12167 14563 18121 16147 21419 HP:0009883 -- Duplication of the distal phalanx of hand HP:0009883 -- Duplication of the distal phalanx of hand 12167 22418 76025 14183 56873 14563 26564 380664 16576 22160 13542 HP:0009612 -- Duplication of the distal phalanx of the thumb HP:0009612 -- Duplication of the distal phalanx of the thumb 12167 76025 56873 14563 16576 HP:0010237 -- Epiphyseal stippling of finger phalanges HP:0010237 -- Epiphyseal stippling of finger phalanges 12167 14563 HP:0009700 -- Finger symphalangism HP:0009700 -- Finger symphalangism 12167 14563 18121 320522 16147 21419 19210 HP:0008096 -- Medially deviated second toe HP:0008096 -- Medially deviated second toe 12167 14563 12156 HP:0009495 -- Pseudoepiphyses of the 2nd finger HP:0009495 -- Pseudoepiphyses of the 2nd finger 12167 14563 HP:0010235 -- Pseudoepiphyses of the phalanges of the hand HP:0010235 -- Pseudoepiphyses of the phalanges of the hand 12167 19335 14563 16510 HP:0009467 -- Radial deviation of the 2nd finger HP:0009467 -- Radial deviation of the 2nd finger 12167 14563 12156 76355 192176 16147 HP:0010038 -- Short 2nd metacarpal HP:0010038 -- Short 2nd metacarpal 12167 14563 12156 HP:0009650 -- Short distal phalanx of the thumb HP:0009650 -- Short distal phalanx of the thumb 12167 19207 24069 26409 192176 19206 99377 HP:0009638 -- Short proximal phalanx of thumb HP:0009638 -- Short proximal phalanx of thumb 12167 16147 HP:0010255 -- Stippling of the epiphyses of the distal phalanges of the hand HP:0010255 -- Stippling of the epiphyses of the distal phalanges of the hand 12167 14563 HP:0009684 -- Stippling of the epiphysis of the distal phalanx of the thumb HP:0009684 -- Stippling of the epiphysis of the distal phalanx of the thumb 12167 14563