Cross-condition view
Characteristics shared across conditions.
Because every map is built on the same substrate with the same controlled identifiers, a characteristic that appears in more than one condition resolves to the same node. This view lists those overlaps, grouped by node type.
A shared node means only that these conditions each contain a characteristic that normalizes to the same identifier. That is the whole of what is shown. No relationship between the conditions is asserted, suggested, or implied, and no edge connecting them exists in the graph. This is a read-only join over nodes that were each grounded independently; every appearance keeps its own source, listed beside it, so the chain of custody stays separate per condition.
22q11.2 deletion syndromeAddison diseaseAlport syndromeAngelman syndromeBecker muscular dystrophyBeckwith-Wiedemann syndromeBehçet diseaseBrugada syndromeCharcot-Marie-Tooth disease type 1ADiamond-Blackfan anemiaDuchenne muscular dystrophyEhlers-Danlos syndromeErdheim-Chester diseaseFabry diseaseFanconi anemiaFragile X syndromeFriedreich ataxiaG6PD deficiencyGaucher diseaseHuntington diseaseHutchinson-Gilford progeria syndromeIgA vasculitisKawasaki diseaseKlinefelter syndromeKrabbe diseaseLambert-Eaton myasthenic syndromeLeber hereditary optic neuropathyLoeys-Dietz syndromeMarfan syndromeMcCune-Albright syndromeNiemann-Pick disease type CPompe diseasePrader-Willi syndromeRett syndromeSilver-Russell syndromeSjogren syndromeSturge-Weber syndromeTakayasu arteritisTay-Sachs diseaseTurner syndromeUsher syndromeWilliams syndromeWilson diseaseX-linked adrenoleukodystrophyX-linked hypophosphatemiaachondroplasiaacid sphingomyelinase deficiencyacromegalyacute intermittent porphyriaalkaptonuriaalpha-1 antitrypsin deficiencyamyotrophic lateral sclerosisarrhythmogenic right ventricular cardiomyopathyatypical hemolytic uremic syndromeautoimmune hepatitisautosomal dominant polycystic kidney diseasebeta-thalassemiacatecholaminergic polymorphic ventricular tachycardiachronic inflammatory demyelinating polyneuropathyclassic galactosemiacommon variable immunodeficiencycongenital adrenal hyperplasiacystic fibrosisdermatomyositiseosinophilic granulomatosis with polyangiitisepidermolysis bullosaerythropoietic protoporphyriafacioscapulohumeral muscular dystrophyfamilial Mediterranean feverfamilial dilated cardiomyopathyfamilial hypercholesterolemiafibrodysplasia ossificans progressivagiant cell arteritisgranulomatosis with polyangiitishemiplegic migrainehemophilia Ahemophilia Bhereditary angioedemahereditary hemochromatosishereditary hemorrhagic telangiectasiahereditary pheochromocytoma-paragangliomahereditary spastic paraplegiahereditary spherocytosishypertrophic cardiomyopathyhypophosphatasiaidiopathic pulmonary arterial hypertensionidiopathic pulmonary fibrosislimb-girdle muscular dystrophylong QT syndromelymphangioleiomyomatosismaple syrup urine diseasemast cell activation syndromemetachromatic leukodystrophymicroscopic polyangiitismucopolysaccharidosis type Imucopolysaccharidosis type IImultiple endocrine neoplasia type 1multiple endocrine neoplasia type 2multiple system atrophymyalgic encephalomyelitis/chronic fatigue syndromemyasthenia gravismyotonic dystrophy type 1myotonic dystrophy type 2narcolepsy type 1nephropathic cystinosisneurofibromatosis type 1neurofibromatosis type 2osteogenesis imperfectaparoxysmal nocturnal hemoglobinuriaphenylketonuriapolyarteritis nodosaprimary biliary cholangitisprimary ciliary dyskinesiaprimary sclerosing cholangitisprogressive supranuclear palsyretinitis pigmentosasarcoidosissickle cell diseasespinal muscular atrophyspinocerebellar ataxia type 3sporadic Creutzfeldt-Jakob diseasestiff-person syndromesystemic sclerosistransthyretin amyloidosistuberous sclerosis complexvon Hippel-Lindau diseasevon Willebrand disease
Gene29
DMD3
gene:DMD
- Becker muscular dystrophyORPHA:98895weak
- Duchenne muscular dystrophyOMIM:310200weak
- familial dilated cardiomyopathyORPHA:154weak
HLA-DRB13
gene:HLA-DRB1
- giant cell arteritisORPHA:397weak
- narcolepsy type 1ORPHA:2073weak
- sarcoidosisORPHA:797weak
SCN5A3
gene:SCN5A
- Brugada syndromeORPHA:130weak
- familial dilated cardiomyopathyORPHA:154weak
- long QT syndromeOMIM:603830weak
ABCC92
gene:ABCC9
- Brugada syndromeORPHA:130weak
- familial dilated cardiomyopathyORPHA:154weak
CLRN12
gene:CLRN1
- Usher syndromePMID:41060164weak
- retinitis pigmentosaORPHA:791weak
COL1A12
gene:COL1A1
- Ehlers-Danlos syndromePMID:28306229well_established
- osteogenesis imperfectaOMIM:166220weak
COL1A22
gene:COL1A2
- Ehlers-Danlos syndromePMID:28306229well_established
- osteogenesis imperfectaOMIM:166220weak
DNAJC302
gene:DNAJC30
- Leber hereditary optic neuropathyORPHA:104weak
- Williams syndromeORPHA:904weak
DSP2
gene:DSP
- familial dilated cardiomyopathyORPHA:154weak
- idiopathic pulmonary fibrosisORPHA:2032weak
HLA-B2
gene:HLA-B
- Behçet diseaseORPHA:117weak
- giant cell arteritisORPHA:397weak
IFT1402
gene:IFT140
- autosomal dominant polycystic kidney diseaseORPHA:730weak
- retinitis pigmentosaORPHA:791weak
IGF22
gene:IGF2
⇄ directional · h19_igf2_methylation: hypermethylation vs hypomethylation
- Beckwith-Wiedemann syndromehypermethylationOMIM:130650weak
- Silver-Russell syndromehypomethylationOMIM:180860weak
IL12A2
gene:IL12A
- Behçet diseaseORPHA:117weak
- primary biliary cholangitisORPHA:186weak
KCNQ12
gene:KCNQ1
- Beckwith-Wiedemann syndromeOMIM:130650weak
- long QT syndromeOMIM:192500weak
LMNA2
gene:LMNA
- Hutchinson-Gilford progeria syndromeOMIM:176670weak
- familial dilated cardiomyopathyORPHA:154weak
MEFV2
gene:MEFV
- Behçet diseaseORPHA:117weak
- familial Mediterranean feverORPHA:342weak
MYBPC32
gene:MYBPC3
- familial dilated cardiomyopathyORPHA:154weak
- hypertrophic cardiomyopathyOMIM:115197weak
MYH62
gene:MYH6
- familial dilated cardiomyopathyORPHA:154weak
- hypertrophic cardiomyopathyOMIM:192600weak
MYH72
gene:MYH7
- familial dilated cardiomyopathyORPHA:154weak
- hypertrophic cardiomyopathyOMIM:192600weak
NF12
gene:NF1
- hereditary pheochromocytoma-paragangliomaORPHA:29072weak
- neurofibromatosis type 1OMIM:162200weak
OFD12
gene:OFD1
- primary ciliary dyskinesiaORPHA:244weak
- retinitis pigmentosaORPHA:791weak
PKP22
gene:PKP2
- Brugada syndromeORPHA:130weak
- arrhythmogenic right ventricular cardiomyopathyOMIM:609040weak
RPGR2
gene:RPGR
- primary ciliary dyskinesiaORPHA:244weak
- retinitis pigmentosaORPHA:791weak
SDHA2
gene:SDHA
- familial dilated cardiomyopathyORPHA:154weak
- hereditary pheochromocytoma-paragangliomaORPHA:29072weak
TNNT22
gene:TNNT2
- familial dilated cardiomyopathyORPHA:154weak
- hypertrophic cardiomyopathyOMIM:115195weak
TSC12
gene:TSC1
- lymphangioleiomyomatosisOMIM:606690weak
- tuberous sclerosis complexORPHA:805weak
TSC22
gene:TSC2
- lymphangioleiomyomatosisOMIM:606690weak
- tuberous sclerosis complexORPHA:805weak
USH2A2
gene:USH2A
- Usher syndromePMID:41060164weak
- retinitis pigmentosaORPHA:791weak
VHL2
gene:VHL
- hereditary pheochromocytoma-paragangliomaORPHA:29072weak
- von Hippel-Lindau diseaseORPHA:892weak
GeneticVariant1
15q11-q13 deletion2
variant:15q11q13_deletion
⇄ directional · parent_of_origin: maternal vs paternal
- Angelman syndromematernalPMID:42112912moderate
- Prader-Willi syndromepaternalPMID:42146651moderate
Protein1
Glucosylceramide synthase2
protein:glucosylceramide_synthase
also labelled: glucosylceramide synthase
- Gaucher diseasePMID:26384672weak
- Niemann-Pick disease type CPMID:38804481weak
Target1
Complement C53
target:complement_c5
- atypical hemolytic uremic syndromePMID:40484823weak
- myasthenia gravisPMID:40631640weak
- paroxysmal nocturnal hemoglobinuriaPMID:30185704weak
Drug26
rituximab6
drug:rituximab
- dermatomyositisPMID:41588953weak
- eosinophilic granulomatosis with polyangiitisPMID:42130237weak
- granulomatosis with polyangiitisPMID:42130237weak
- microscopic polyangiitisPMID:42130237weak
- stiff-person syndromePMID:40413341weak
- systemic sclerosisPMID:39874231weak
Azathioprine5
drug:azathioprine
also labelled: azathioprine
- Behçet diseasePMID:42202380weak
- Takayasu arteritisPMID:28116918weak
- dermatomyositisPMID:42194620weak
- microscopic polyangiitisPMID:41179045weak
- myasthenia gravisPMID:41928685weak
Glucocorticoids5
drug:glucocorticoids
also labelled: glucocorticoids
- Behçet diseasePMID:41876291weak
- Duchenne muscular dystrophyPMID:41894886weak
- Takayasu arteritisPMID:41860699moderate
- giant cell arteritisPMID:31270110weak
- granulomatosis with polyangiitisPMID:42130237weak
Corticosteroids4
drug:corticosteroids
- Addison diseasePMID:41419241weak
- Alport syndromePMID:42076904weak
- acute intermittent porphyriaPMID:17298222weak
- myasthenia gravisPMID:41928685weak
Cyclophosphamide4
drug:cyclophosphamide
also labelled: cyclophosphamide
- eosinophilic granulomatosis with polyangiitisPMID:42156086weak
- granulomatosis with polyangiitisPMID:42100069weak
- microscopic polyangiitisPMID:41799408weak
- polyarteritis nodosaPMID:41128202weak
Mycophenolate mofetil4
drug:mycophenolate_mofetil
also labelled: mycophenolate mofetil
- Takayasu arteritisPMID:20054700weak
- dermatomyositisPMID:42194620weak
- myasthenia gravisPMID:41928685weak
- systemic sclerosisPMID:42214802weak
Methotrexate3
drug:methotrexate
also labelled: methotrexate
- Takayasu arteritisPMID:28116918weak
- dermatomyositisPMID:42194620weak
- sarcoidosisPMID:35230389weak
aspirin2
drug:aspirin
- G6PD deficiencyPMID:38292218weak
- mast cell activation syndromePMID:25439370weak
belzutifan2
drug:belzutifan
- hereditary pheochromocytoma-paragangliomaPMID:41569310weak
- von Hippel-Lindau diseasePMID:41632099weak
bevacizumab2
drug:bevacizumab
- hereditary hemorrhagic telangiectasiaPMID:29794143weak
- neurofibromatosis type 2PMID:42276040weak
bisphosphonates2
drug:bisphosphonates
- McCune-Albright syndromePMID:18489744weak
- osteogenesis imperfectaPMID:42011197weak
burosumab2
drug:burosumab
- McCune-Albright syndromePMID:42100588weak
- X-linked hypophosphatemiaPMID:41057893weak
Colchicine2
drug:colchicine
also labelled: colchicine
- Behçet diseasePMID:41876291weak
- familial Mediterranean feverPMID:40218163weak
concizumab2
drug:concizumab
- hemophilia APMID:41873813weak
- hemophilia BPMID:42028818weak
desmopressin2
drug:desmopressin
- hemophilia APMID:41377554weak
- von Willebrand diseasePMID:41377554weak
Eculizumab2
drug:eculizumab
also labelled: eculizumab
- atypical hemolytic uremic syndromePMID:40484823weak
- paroxysmal nocturnal hemoglobinuriaPMID:30185704weak
everolimus2
drug:everolimus
- lymphangioleiomyomatosisPMID:41731545weak
- tuberous sclerosis complexPMID:39448920weak
fludrocortisone2
drug:fludrocortisone
- Addison diseasePMID:35947299weak
- congenital adrenal hyperplasiaPMID:38461806weak
hydrocortisone2
drug:hydrocortisone
- Addison diseasePMID:40720873weak
- congenital adrenal hyperplasiaPMID:42198415weak
mexiletine2
drug:mexiletine
- myotonic dystrophy type 1PMID:38306059weak
- myotonic dystrophy type 2PMID:39875220weak
Nintedanib2
drug:nintedanib
also labelled: nintedanib
- idiopathic pulmonary fibrosisPMID:42279032weak
- systemic sclerosisPMID:39874231weak
octreotide2
drug:octreotide
- Beckwith-Wiedemann syndromePMID:26867223weak
- acromegalyPMID:41965092weak
Pyridostigmine2
drug:pyridostigmine
also labelled: pyridostigmine
- Lambert-Eaton myasthenic syndromePMID:42053006weak
- myasthenia gravisPMID:41573440weak
Ravulizumab2
drug:ravulizumab
- atypical hemolytic uremic syndromePMID:32299680weak
- paroxysmal nocturnal hemoglobinuriaPMID:39841198weak
Tocilizumab2
drug:tocilizumab
- Takayasu arteritisPMID:41860699moderate
- giant cell arteritisPMID:29570475weak
tranexamic acid2
drug:tranexamic_acid
- hemophilia APMID:38828803weak
- hereditary hemorrhagic telangiectasiaPMID:37995018weak
Intervention19
hematopoietic stem cell transplantation8
intervention:hematopoietic_stem_cell_transplantation
- Diamond-Blackfan anemiaPMID:37973818weak
- Fanconi anemiaPMID:36915258weak
- Krabbe diseasePMID:41604001weak
- X-linked adrenoleukodystrophyPMID:18759549weak
- acid sphingomyelinase deficiencyPMID:38397448weak
- metachromatic leukodystrophyPMID:40176833weak
- mucopolysaccharidosis type IPMID:41883172weak
- mucopolysaccharidosis type IIPMID:40102994weak
corticosteroids7
intervention:corticosteroids
- Diamond-Blackfan anemiaPMID:37973818weak
- IgA vasculitisPMID:42050300weak
- autoimmune hepatitisPMID:42163288weak
- chronic inflammatory demyelinating polyneuropathyPMID:41890726weak
- eosinophilic granulomatosis with polyangiitisPMID:41584384weak
- polyarteritis nodosaPMID:41128202weak
- sarcoidosisPMID:42266437weak
liver transplantation4
intervention:liver_transplantation
- alpha-1 antitrypsin deficiencyPMID:33364772weak
- maple syrup urine diseasePMID:41450887weak
- primary biliary cholangitisPMID:35910038weak
- primary sclerosing cholangitisPMID:41997818weak
beta-blockers3
intervention:beta_blockers
- Marfan syndromePMID:39459359weak
- hypertrophic cardiomyopathyPMID:40993768weak
- long QT syndromePMID:27826330weak
Blood transfusion3
intervention:blood_transfusion
also labelled: blood transfusion
- G6PD deficiencyPMID:42017087weak
- hereditary hemorrhagic telangiectasiaPMID:35651452weak
- sickle cell diseasePMID:42261266weak
implantable cardioverter-defibrillator (ICD)3
intervention:implantable_cardioverter_defibrillator_i
- Brugada syndromePMID:41696545weak
- arrhythmogenic right ventricular cardiomyopathyPMID:42429506weak
- long QT syndromePMID:15191637weak
intravenous immunoglobulin3
intervention:intravenous_immunoglobulin
- Kawasaki diseasePMID:42159808weak
- Lambert-Eaton myasthenic syndromePMID:40574941weak
- chronic inflammatory demyelinating polyneuropathyPMID:41890726weak
Intravenous immunoglobulin (IVIG)3
intervention:intravenous_immunoglobulin_ivig
also labelled: intravenous immunoglobulin (IVIG)
- dermatomyositisPMID:41768519weak
- myasthenia gravisPMID:40718168weak
- stiff-person syndromePMID:33437550weak
Lung transplantation3
intervention:lung_transplantation
also labelled: lung transplantation
- alpha-1 antitrypsin deficiencyPMID:41678135weak
- idiopathic pulmonary fibrosisPMID:28978213weak
- lymphangioleiomyomatosisPMID:40214022weak
Plasma exchange3
intervention:plasma_exchange
also labelled: plasma exchange
- Lambert-Eaton myasthenic syndromePMID:22277398weak
- chronic inflammatory demyelinating polyneuropathyPMID:36182621weak
- myasthenia gravisPMID:40718168weak
surgical resection3
intervention:surgical_resection
- neurofibromatosis type 1PMID:41299544weak
- neurofibromatosis type 2PMID:42142209weak
- von Hippel-Lindau diseasePMID:42264668weak
cochlear implantation2
intervention:cochlear_implantation
- Usher syndromePMID:42020935weak
- neurofibromatosis type 2PMID:41981748weak
Enzyme replacement therapy2
intervention:enzyme_replacement_therapy
- Pompe diseasePMID:42135804weak
- acid sphingomyelinase deficiencyPMID:37133675weak
Gene therapy2
intervention:gene_therapy
- alpha-1 antitrypsin deficiencyPMID:41588875weak
- sickle cell diseasePMID:42261266weak
glucocorticoids2
intervention:glucocorticoids
- dermatomyositisPMID:41181094weak
- microscopic polyangiitisPMID:42247048weak
implantable cardioverter-defibrillator2
intervention:implantable_cardioverter_defibrillator
- familial dilated cardiomyopathyPMID:29807197weak
- hypertrophic cardiomyopathyPMID:36403865weak
kidney transplantation2
intervention:kidney_transplantation
- Alport syndromePMID:42076904weak
- nephropathic cystinosisPMID:40912033weak
multidisciplinary care2
intervention:multidisciplinary_care
- amyotrophic lateral sclerosisPMID:42113599weak
- progressive supranuclear palsyPMID:36222770weak
Physical therapy2
intervention:physical_therapy
also labelled: physical therapy
- amyotrophic lateral sclerosisPMID:41718290weak
- myotonic dystrophy type 1PMID:40508159weak
DiagnosticTest10
Genetic testing10
dxtest:genetic_testing
also labelled: genetic testing
- Alport syndromePMID:42254847weak
- Angelman syndromePMID:42184406weak
- achondroplasiaPMID:41762373weak
- alkaptonuriaPMID:41133048weak
- alpha-1 antitrypsin deficiencyPMID:41537131weak
- amyotrophic lateral sclerosisPMID:41907197weak
- atypical hemolytic uremic syndromePMID:37994143weak
- hemiplegic migrainePMID:41146775weak
- hypertrophic cardiomyopathyPMID:42205123weak
- neurofibromatosis type 2PMID:29923868weak
Magnetic resonance imaging5
dxtest:magnetic_resonance_imaging
also labelled: magnetic resonance imaging
- acromegalyPMID:42135744weak
- alkaptonuriaPMID:41249062weak
- multiple system atrophyPMID:24963676weak
- neurofibromatosis type 2PMID:32591014weak
- sickle cell diseasePMID:41665679weak
Biopsy4
dxtest:biopsy
- Addison diseasePMID:41102963weak
- acid sphingomyelinase deficiencyPMID:41791926weak
- acromegalyPMID:39449742weak
- alpha-1 antitrypsin deficiencyPMID:17519511weak
Echocardiography4
dxtest:echocardiography
also labelled: echocardiography
- Duchenne muscular dystrophyPMID:41391906weak
- Williams syndromePMID:34540437weak
- hypertrophic cardiomyopathyPMID:40895840weak
- sickle cell diseasePMID:32088063weak
ACTH stimulation test2
dxtest:acth_stimulation_test
- Addison diseasePMID:29260252weak
- congenital adrenal hyperplasiaPMID:39713855weak
Genome sequencing2
dxtest:genome_sequencing
- alkaptonuriaPMID:41963999weak
- amyotrophic lateral sclerosisPMID:42195033weak
Newborn screening2
dxtest:newborn_screening
also labelled: newborn screening
- Pompe diseasePMID:41935418weak
- spinal muscular atrophyPMID:42203536weak
Next-generation sequencing2
dxtest:next_generation_sequencing
- Alport syndromePMID:42180677weak
- amyotrophic lateral sclerosisPMID:41673790weak
Repetitive nerve stimulation2
dxtest:repetitive_nerve_stimulation
- Lambert-Eaton myasthenic syndromePMID:40675738weak
- myasthenia gravisPMID:41546732weak
Sanger sequencing2
dxtest:sanger_sequencing
- Alport syndromePMID:42180677weak
- alkaptonuriaPMID:41236909weak
ClinicalFinding1001
Seizure32
cf:seizure
- 22q11.2 deletion syndromePMID:40685150weak
- Addison diseaseORPHA:85138weak
- Angelman syndromePMID:41683698weak
- Behçet diseaseORPHA:117weak
- Fragile X syndromePMID:37420260weak
- IgA vasculitisORPHA:761weak
- Krabbe diseaseORPHA:487weak
- Niemann-Pick disease type CPMID:33892845weak
- Prader-Willi syndromeOMIM:176270weak
- Rett syndromePMID:40849266weak
- Sjogren syndromeORPHA:289390weak
- Sturge-Weber syndromePMID:36958063weak
- Tay-Sachs diseasePMID:38165373weak
- Wilson diseaseOMIM:277900weak
- X-linked adrenoleukodystrophyPMID:41986485weak
- acute intermittent porphyriaPMID:27982422weak
- classic galactosemiaORPHA:79239weak
- facioscapulohumeral muscular dystrophyORPHA:269weak
- familial Mediterranean feverORPHA:342weak
- fibrodysplasia ossificans progressivaORPHA:337weak
- granulomatosis with polyangiitisORPHA:900weak
- hereditary hemorrhagic telangiectasiaORPHA:774weak
- hypophosphatasiaPMID:42170448weak
- lymphangioleiomyomatosisORPHA:538weak
- maple syrup urine diseasePMID:34187135weak
- metachromatic leukodystrophyPMID:38494502weak
- mucopolysaccharidosis type IIORPHA:580weak
- myasthenia gravisORPHA:589weak
- neurofibromatosis type 1PMID:31443616weak
- neurofibromatosis type 2ORPHA:637weak
- phenylketonuriaPMID:35854334weak
- tuberous sclerosis complexPMID:38137462weak
Autosomal recessive inheritance30
cf:autosomal_recessive_inheritance
- Fanconi anemiaOMIM:227650weak
- Hutchinson-Gilford progeria syndromeOMIM:176670weak
- Krabbe diseasePMID:34449528weak
- Niemann-Pick disease type COMIM:257220weak
- Pompe diseasePMID:42131243weak
- Tay-Sachs diseasePMID:22670494weak
- Usher syndromePMID:21234346weak
- Wilson diseasePMID:35042319weak
- acid sphingomyelinase deficiencyPMID:28228103weak
- alkaptonuriaPMID:41377225weak
- alpha-1 antitrypsin deficiencyPMID:27855621weak
- amyotrophic lateral sclerosisOMIM:105400weak
- classic galactosemiaOMIM:230400weak
- common variable immunodeficiencyOMIM:607594weak
- congenital adrenal hyperplasiaPMID:39519330weak
- cystic fibrosisPMID:41898631weak
- epidermolysis bullosaPMID:39905456weak
- familial hypercholesterolemiaOMIM:143890weak
- hereditary angioedemaOMIM:106100weak
- hereditary hemochromatosisPMID:15152104weak
- hereditary spherocytosisPMID:15287938weak
- hypertrophic cardiomyopathyOMIM:115197weak
- limb-girdle muscular dystrophyPMID:41633215weak
- maple syrup urine diseasePMID:40375993weak
- metachromatic leukodystrophyPMID:26000324weak
- mucopolysaccharidosis type IOMIM:607014weak
- nephropathic cystinosisOMIM:219800weak
- phenylketonuriaPMID:35854334weak
- sickle cell diseasePMID:42014656weak
- spinal muscular atrophyPMID:31271088weak
Fatigue27
cf:fatigue
- Addison diseasePMID:40720873weak
- Becker muscular dystrophyORPHA:98895weak
- Behçet diseasePMID:36194239weak
- Erdheim-Chester diseasePMID:39172709weak
- Gaucher diseasePMID:37626429weak
- Kawasaki diseaseORPHA:2331weak
- Sjogren syndromeORPHA:289390weak
- X-linked hypophosphatemiaORPHA:89936weak
- acromegalyORPHA:963weak
- amyotrophic lateral sclerosisORPHA:803weak
- dermatomyositisORPHA:221weak
- eosinophilic granulomatosis with polyangiitisORPHA:183weak
- familial Mediterranean feverORPHA:342weak
- familial dilated cardiomyopathyORPHA:154weak
- giant cell arteritisORPHA:397weak
- granulomatosis with polyangiitisORPHA:900weak
- hereditary pheochromocytoma-paragangliomaORPHA:29072weak
- idiopathic pulmonary fibrosisPMID:32474425weak
- lymphangioleiomyomatosisORPHA:538weak
- microscopic polyangiitisPMID:42170701weak
- myalgic encephalomyelitis/chronic fatigue syndromePMID:42104344weak
- myasthenia gravisORPHA:589weak
- myotonic dystrophy type 2ORPHA:606weak
- primary biliary cholangitisPMID:41906662weak
- primary sclerosing cholangitisPMID:41871593weak
- sarcoidosisPMID:27454307weak
- sporadic Creutzfeldt-Jakob diseaseORPHA:204weak
Autosomal dominant inheritance26
cf:autosomal_dominant_inheritance
- 22q11.2 deletion syndromeOMIM:188400weak
- Angelman syndromeOMIM:105830weak
- Beckwith-Wiedemann syndromePMID:36322462weak
- Charcot-Marie-Tooth disease type 1APMID:10586223weak
- Diamond-Blackfan anemiaPMID:22689679weak
- Hutchinson-Gilford progeria syndromeOMIM:176670weak
- Marfan syndromePMID:39366558weak
- Prader-Willi syndromeOMIM:176270weak
- Silver-Russell syndromePMID:8533797weak
- Williams syndromePMID:37337730weak
- achondroplasiaOMIM:100800weak
- acute intermittent porphyriaPMID:7866402weak
- amyotrophic lateral sclerosisPMID:30050368weak
- arrhythmogenic right ventricular cardiomyopathyPMID:40869437weak
- epidermolysis bullosaPMID:39905456weak
- familial hypercholesterolemiaOMIM:143890weak
- fibrodysplasia ossificans progressivaPMID:35475090weak
- hereditary angioedemaPMID:41025316weak
- hereditary spastic paraplegiaOMIM:182601weak
- hereditary spherocytosisPMID:34689357weak
- hypertrophic cardiomyopathyPMID:36403865weak
- long QT syndromePMID:16001778weak
- myotonic dystrophy type 1PMID:22643181weak
- neurofibromatosis type 1PMID:29618358weak
- neurofibromatosis type 2PMID:26706012weak
- osteogenesis imperfectaPMID:40650436weak
Abdominal pain22
cf:abdominal_pain
- Addison diseaseORPHA:85138weak
- Behçet diseasePMID:10730919weak
- Erdheim-Chester diseaseORPHA:35687weak
- G6PD deficiencyPMID:36678214weak
- IgA vasculitisPMID:41939557weak
- Kawasaki diseaseORPHA:2331weak
- Williams syndromeORPHA:904weak
- acute intermittent porphyriaPMID:9638723weak
- autoimmune hepatitisORPHA:2137weak
- eosinophilic granulomatosis with polyangiitisORPHA:183weak
- familial Mediterranean feverPMID:42101754weak
- granulomatosis with polyangiitisORPHA:900weak
- hereditary angioedemaPMID:31631315weak
- hereditary hemochromatosisPMID:10916830weak
- lymphangioleiomyomatosisORPHA:538weak
- microscopic polyangiitisPMID:40033657weak
- multiple endocrine neoplasia type 1ORPHA:652weak
- myotonic dystrophy type 2ORPHA:606weak
- polyarteritis nodosaPMID:41243061weak
- primary sclerosing cholangitisPMID:41871593weak
- sickle cell diseasePMID:41665679weak
- von Hippel-Lindau diseaseORPHA:892weak
Depression22
cf:depression
- 22q11.2 deletion syndromeORPHA:567weak
- Friedreich ataxiaPMID:42117563weak
- Huntington diseasePMID:27296904weak
- Niemann-Pick disease type CORPHA:646weak
- Sjogren syndromeORPHA:289390weak
- Turner syndromeORPHA:881weak
- Usher syndromeORPHA:886weak
- Williams syndromeORPHA:904weak
- acromegalyORPHA:963weak
- acute intermittent porphyriaORPHA:79276weak
- amyotrophic lateral sclerosisORPHA:803weak
- autoimmune hepatitisORPHA:2137weak
- classic galactosemiaORPHA:79239weak
- familial Mediterranean feverORPHA:342weak
- hereditary spastic paraplegiaOMIM:182601weak
- multiple endocrine neoplasia type 1ORPHA:652weak
- narcolepsy type 1ORPHA:2073weak
- phenylketonuriaPMID:27805419weak
- primary sclerosing cholangitisORPHA:171weak
- progressive supranuclear palsyPMID:41811516weak
- sporadic Creutzfeldt-Jakob diseaseORPHA:204weak
- tuberous sclerosis complexORPHA:805weak
Hypertension21
cf:hypertension
- Alport syndromeORPHA:63weak
- Hutchinson-Gilford progeria syndromeORPHA:740weak
- Takayasu arteritisPMID:41181484moderate
- Turner syndromePMID:16929365weak
- Williams syndromePMID:37328513weak
- acromegalyPMID:22309962weak
- acute intermittent porphyriaPMID:9638723weak
- alkaptonuriaORPHA:56weak
- atypical hemolytic uremic syndromePMID:40484823weak
- autosomal dominant polycystic kidney diseasePMID:41907239weak
- congenital adrenal hyperplasiaPMID:39836622weak
- eosinophilic granulomatosis with polyangiitisORPHA:183weak
- granulomatosis with polyangiitisORPHA:900weak
- mucopolysaccharidosis type IIORPHA:580weak
- multiple endocrine neoplasia type 1ORPHA:652weak
- narcolepsy type 1ORPHA:2073weak
- neurofibromatosis type 1PMID:16134300weak
- polyarteritis nodosaPMID:39799509weak
- sickle cell diseasePMID:35172625weak
- tuberous sclerosis complexORPHA:805weak
- von Hippel-Lindau diseaseORPHA:892weak
Intellectual disability21
cf:intellectual_disability
- 22q11.2 deletion syndromePMID:42058778weak
- Angelman syndromePMID:24876791weak
- Diamond-Blackfan anemiaOMIM:105650weak
- Fanconi anemiaORPHA:84weak
- Niemann-Pick disease type CORPHA:646weak
- Prader-Willi syndromePMID:40703214weak
- Sturge-Weber syndromeORPHA:3205weak
- Williams syndromePMID:27273269weak
- X-linked adrenoleukodystrophyORPHA:43weak
- acid sphingomyelinase deficiencyOMIM:257200weak
- classic galactosemiaPMID:38469090weak
- fibrodysplasia ossificans progressivaORPHA:337weak
- hemiplegic migrainePMID:32430436weak
- hereditary spastic paraplegiaOMIM:182601weak
- maple syrup urine diseasePMID:28324240weak
- metachromatic leukodystrophyOMIM:250100weak
- mucopolysaccharidosis type IPMID:25599668weak
- myotonic dystrophy type 1PMID:41766784weak
- nephropathic cystinosisOMIM:219800weak
- phenylketonuriaPMID:30864096weak
- tuberous sclerosis complexORPHA:805weak
Muscle weakness21
cf:muscle_weakness
- Addison diseaseORPHA:85138weak
- Becker muscular dystrophyPMID:41633644weak
- Duchenne muscular dystrophyPMID:16322188weak
- Friedreich ataxiaPMID:38655751weak
- IgA vasculitisORPHA:761weak
- Krabbe diseaseORPHA:487weak
- Pompe diseasePMID:41803906weak
- Sjogren syndromeORPHA:289390weak
- X-linked hypophosphatemiaPMID:41185884weak
- acid sphingomyelinase deficiencyOMIM:257200weak
- acute intermittent porphyriaPMID:36598516weak
- amyotrophic lateral sclerosisPMID:42113599weak
- beta-thalassemiaORPHA:848weak
- hemiplegic migrainePMID:38307656weak
- hereditary angioedemaOMIM:106100weak
- metachromatic leukodystrophyORPHA:512weak
- multiple endocrine neoplasia type 2ORPHA:653weak
- myasthenia gravisPMID:41928685weak
- myotonic dystrophy type 1PMID:39216342weak
- systemic sclerosisORPHA:90291weak
- transthyretin amyloidosisORPHA:271861weak
Renal insufficiency21
cf:renal_insufficiency
- 22q11.2 deletion syndromeOMIM:188400weak
- Alport syndromePMID:31630709weak
- Behçet diseaseORPHA:117weak
- Erdheim-Chester diseaseORPHA:35687weak
- Fabry diseasePMID:29618309weak
- Fanconi anemiaORPHA:84weak
- IgA vasculitisORPHA:761weak
- Sjogren syndromeORPHA:289390weak
- Williams syndromeORPHA:904weak
- acute intermittent porphyriaORPHA:79276weak
- autosomal dominant polycystic kidney diseaseORPHA:730weak
- eosinophilic granulomatosis with polyangiitisORPHA:183weak
- granulomatosis with polyangiitisORPHA:900weak
- microscopic polyangiitisPMID:30404112weak
- nephropathic cystinosisPMID:25345100weak
- primary sclerosing cholangitisORPHA:171weak
- sarcoidosisPMID:33807303weak
- sickle cell diseasePMID:36165106weak
- systemic sclerosisORPHA:90291weak
- transthyretin amyloidosisORPHA:271861weak
- tuberous sclerosis complexORPHA:805weak
Splenomegaly21
cf:splenomegaly
- 22q11.2 deletion syndromeORPHA:567weak
- Behçet diseasePMID:10730919weak
- G6PD deficiencyOMIM:300908weak
- Gaucher diseasePMID:24090739weak
- Niemann-Pick disease type CPMID:39697013weak
- Pompe diseaseOMIM:232300weak
- Wilson diseaseOMIM:277900weak
- acid sphingomyelinase deficiencyPMID:30795770weak
- alpha-1 antitrypsin deficiencyPMID:3879373weak
- autoimmune hepatitisORPHA:2137weak
- beta-thalassemiaPMID:26479125weak
- common variable immunodeficiencyPMID:41869311weak
- familial Mediterranean feverORPHA:342weak
- hereditary hemochromatosisOMIM:235200weak
- hereditary spherocytosisPMID:31014431weak
- mucopolysaccharidosis type IPMID:25599668weak
- mucopolysaccharidosis type IIPMID:40102994weak
- nephropathic cystinosisOMIM:219800weak
- primary biliary cholangitisORPHA:186weak
- primary sclerosing cholangitisORPHA:171weak
- sickle cell diseasePMID:36710088weak
Anxiety20
cf:anxiety
- 22q11.2 deletion syndromeORPHA:567weak
- Fragile X syndromePMID:37420260weak
- Friedreich ataxiaPMID:42117563weak
- Huntington diseasePMID:27296904weak
- Sjogren syndromeORPHA:289390weak
- Turner syndromeORPHA:881weak
- Usher syndromeORPHA:886weak
- Williams syndromePMID:27273269weak
- acromegalyORPHA:963weak
- acute intermittent porphyriaORPHA:79276weak
- amyotrophic lateral sclerosisORPHA:803weak
- autoimmune hepatitisORPHA:2137weak
- classic galactosemiaORPHA:79239weak
- familial Mediterranean feverORPHA:342weak
- multiple endocrine neoplasia type 2ORPHA:653weak
- narcolepsy type 1ORPHA:2073weak
- phenylketonuriaPMID:27805419weak
- stiff-person syndromePMID:39174250weak
- tuberous sclerosis complexORPHA:805weak
- von Hippel-Lindau diseaseORPHA:892weak
Arthralgia20
cf:arthralgia
- Addison diseaseORPHA:85138weak
- Behçet diseasePMID:27075942weak
- IgA vasculitisORPHA:761weak
- Kawasaki diseaseORPHA:2331weak
- Sjogren syndromeORPHA:289390weak
- Williams syndromeORPHA:904weak
- X-linked hypophosphatemiaPMID:40358789weak
- acid sphingomyelinase deficiencyOMIM:607616weak
- acromegalyPMID:22309962weak
- alkaptonuriaORPHA:56weak
- autoimmune hepatitisORPHA:2137weak
- dermatomyositisORPHA:221weak
- eosinophilic granulomatosis with polyangiitisORPHA:183weak
- familial Mediterranean feverPMID:42270889weak
- giant cell arteritisPMID:35919218weak
- granulomatosis with polyangiitisORPHA:900weak
- microscopic polyangiitisPMID:10941351weak
- mucopolysaccharidosis type IORPHA:579weak
- polyarteritis nodosaORPHA:767weak
- systemic sclerosisORPHA:90291weak
Hearing impairment20
cf:hearing_impairment
- 22q11.2 deletion syndromeORPHA:567weak
- Charcot-Marie-Tooth disease type 1AOMIM:118220weak
- Fanconi anemiaORPHA:84weak
- Friedreich ataxiaPMID:42117563weak
- Krabbe diseaseORPHA:487weak
- McCune-Albright syndromePMID:27017329weak
- Niemann-Pick disease type CORPHA:646weak
- Pompe diseaseOMIM:232300weak
- Turner syndromePMID:30632288weak
- X-linked adrenoleukodystrophyPMID:41986485weak
- achondroplasiaORPHA:15weak
- fibrodysplasia ossificans progressivaORPHA:337weak
- hemiplegic migrainePMID:42067833weak
- metachromatic leukodystrophyORPHA:512weak
- mucopolysaccharidosis type IPMID:25599668weak
- mucopolysaccharidosis type IIPMID:42107344weak
- myasthenia gravisORPHA:589weak
- neurofibromatosis type 2PMID:32591014weak
- osteogenesis imperfectaPMID:41638701weak
- primary ciliary dyskinesiaORPHA:244weak
Weight loss20
cf:weight_loss
- Addison diseasePMID:40720873weak
- Behçet diseasePMID:26034406weak
- Erdheim-Chester diseaseORPHA:35687weak
- Fanconi anemiaORPHA:84weak
- Hutchinson-Gilford progeria syndromeORPHA:740weak
- Krabbe diseaseORPHA:487weak
- amyotrophic lateral sclerosisORPHA:803weak
- congenital adrenal hyperplasiaORPHA:90794weak
- dermatomyositisORPHA:221weak
- eosinophilic granulomatosis with polyangiitisORPHA:183weak
- giant cell arteritisORPHA:397weak
- granulomatosis with polyangiitisORPHA:900weak
- hereditary pheochromocytoma-paragangliomaORPHA:29072weak
- microscopic polyangiitisPMID:30404112weak
- multiple endocrine neoplasia type 1ORPHA:652weak
- nephropathic cystinosisOMIM:219800weak
- polyarteritis nodosaPMID:41128202weak
- primary sclerosing cholangitisORPHA:171weak
- sarcoidosisPMID:27454307weak
- transthyretin amyloidosisORPHA:271861weak
Congestive heart failure19
cf:congestive_heart_failure
- Diamond-Blackfan anemiaOMIM:105650weak
- Duchenne muscular dystrophyPMID:41391906weak
- Erdheim-Chester diseaseORPHA:35687weak
- Hutchinson-Gilford progeria syndromeOMIM:176670weak
- Kawasaki diseaseORPHA:2331weak
- Marfan syndromePMID:26586198weak
- Williams syndromeORPHA:904weak
- eosinophilic granulomatosis with polyangiitisORPHA:183weak
- familial dilated cardiomyopathyPMID:34498126weak
- hereditary hemochromatosisPMID:18079564weak
- hereditary hemorrhagic telangiectasiaPMID:39588537weak
- hereditary pheochromocytoma-paragangliomaORPHA:29072weak
- hypertrophic cardiomyopathyPMID:36403865weak
- idiopathic pulmonary arterial hypertensionORPHA:275766weak
- microscopic polyangiitisPMID:40033657weak
- mucopolysaccharidosis type IORPHA:579weak
- mucopolysaccharidosis type IIOMIM:309900weak
- primary sclerosing cholangitisORPHA:171weak
- transthyretin amyloidosisORPHA:271861weak
Fever19
cf:fever
- Behçet diseasePMID:36732153weak
- Erdheim-Chester diseaseORPHA:35687weak
- G6PD deficiencyOMIM:300908weak
- IgA vasculitisORPHA:761weak
- Kawasaki diseasePMID:41338893weak
- Krabbe diseaseORPHA:487weak
- Pompe diseaseOMIM:232300weak
- acute intermittent porphyriaORPHA:79276weak
- congenital adrenal hyperplasiaOMIM:201910weak
- dermatomyositisORPHA:221weak
- eosinophilic granulomatosis with polyangiitisORPHA:183weak
- familial Mediterranean feverPMID:42114813weak
- giant cell arteritisPMID:35919218weak
- granulomatosis with polyangiitisORPHA:900weak
- lymphangioleiomyomatosisORPHA:538weak
- microscopic polyangiitisPMID:30404112weak
- polyarteritis nodosaPMID:29558355weak
- primary sclerosing cholangitisORPHA:171weak
- sarcoidosisPMID:27454307weak
Hepatomegaly19
cf:hepatomegaly
- Beckwith-Wiedemann syndromePMID:40949896weak
- Gaucher diseasePMID:24090739weak
- Niemann-Pick disease type CPMID:39697013weak
- Pompe diseaseOMIM:232300weak
- Wilson diseaseOMIM:277900weak
- acid sphingomyelinase deficiencyPMID:30795770weak
- beta-thalassemiaORPHA:848weak
- classic galactosemiaPMID:24273939weak
- common variable immunodeficiencyOMIM:607594weak
- cystic fibrosisOMIM:219700weak
- hereditary hemochromatosisOMIM:235200weak
- hypertrophic cardiomyopathyOMIM:115197weak
- mucopolysaccharidosis type IPMID:25345091weak
- mucopolysaccharidosis type IIPMID:38053935weak
- nephropathic cystinosisOMIM:219800weak
- primary biliary cholangitisORPHA:186weak
- primary sclerosing cholangitisORPHA:171weak
- sarcoidosisORPHA:797weak
- sickle cell diseasePMID:41665679weak
Scoliosis18
cf:scoliosis
- 22q11.2 deletion syndromeORPHA:567weak
- Angelman syndromeOMIM:105830weak
- Duchenne muscular dystrophyPMID:31794463weak
- Fanconi anemiaORPHA:84weak
- Fragile X syndromeORPHA:908weak
- Friedreich ataxiaPMID:40541211weak
- Loeys-Dietz syndromePMID:41510658weak
- Marfan syndromePMID:39366558weak
- Prader-Willi syndromePMID:22237428weak
- Rett syndromePMID:40734847weak
- Turner syndromeORPHA:881weak
- Williams syndromeORPHA:904weak
- alkaptonuriaORPHA:56weak
- facioscapulohumeral muscular dystrophyORPHA:269weak
- fibrodysplasia ossificans progressivaORPHA:337weak
- mucopolysaccharidosis type IORPHA:579weak
- neurofibromatosis type 1PMID:18248783weak
- osteogenesis imperfectaPMID:41854906weak
Dysphagia17
cf:dysphagia
- Alport syndromeORPHA:63weak
- Friedreich ataxiaORPHA:95weak
- Niemann-Pick disease type CPMID:33892845weak
- Sturge-Weber syndromeORPHA:3205weak
- Wilson diseaseOMIM:277900weak
- X-linked hypophosphatemiaORPHA:89936weak
- amyotrophic lateral sclerosisPMID:40747856weak
- dermatomyositisPMID:37863375weak
- eosinophilic granulomatosis with polyangiitisORPHA:183weak
- myasthenia gravisPMID:41524776weak
- myotonic dystrophy type 1OMIM:160900weak
- myotonic dystrophy type 2ORPHA:606weak
- nephropathic cystinosisOMIM:219800weak
- neurofibromatosis type 2ORPHA:637weak
- progressive supranuclear palsyPMID:40250258weak
- stiff-person syndromeORPHA:3198weak
- systemic sclerosisORPHA:90291weak
Constipation16
cf:constipation
- 22q11.2 deletion syndromeORPHA:567weak
- Addison diseaseORPHA:85138weak
- Angelman syndromeOMIM:105830weak
- Lambert-Eaton myasthenic syndromePMID:24481713weak
- Williams syndromePMID:33990852weak
- acid sphingomyelinase deficiencyOMIM:257200weak
- acute intermittent porphyriaPMID:9638723weak
- familial Mediterranean feverORPHA:342weak
- multiple endocrine neoplasia type 1ORPHA:652weak
- multiple endocrine neoplasia type 2PMID:39148481weak
- multiple system atrophyORPHA:102weak
- myotonic dystrophy type 2ORPHA:606weak
- narcolepsy type 1ORPHA:2073weak
- nephropathic cystinosisORPHA:411629weak
- stiff-person syndromeORPHA:3198weak
- transthyretin amyloidosisORPHA:271861weak
Gait disturbance16
cf:gait_disturbance
- Becker muscular dystrophyORPHA:98895weak
- Behçet diseaseORPHA:117weak
- Huntington diseaseORPHA:399weak
- Krabbe diseaseORPHA:487weak
- Niemann-Pick disease type CORPHA:646weak
- Pompe diseaseOMIM:232300weak
- Rett syndromePMID:36642718weak
- Williams syndromeORPHA:904weak
- X-linked adrenoleukodystrophyORPHA:43weak
- chronic inflammatory demyelinating polyneuropathyORPHA:2932weak
- classic galactosemiaORPHA:79239weak
- eosinophilic granulomatosis with polyangiitisORPHA:183weak
- facioscapulohumeral muscular dystrophyORPHA:269weak
- limb-girdle muscular dystrophyPMID:41181282weak
- metachromatic leukodystrophyPMID:20596894weak
- stiff-person syndromePMID:40323494weak
Myalgia16
cf:myalgia
- 22q11.2 deletion syndromeORPHA:567weak
- Becker muscular dystrophyPMID:41633644weak
- Behçet diseaseORPHA:117weak
- IgA vasculitisORPHA:761weak
- Sjogren syndromeORPHA:289390weak
- acromegalyORPHA:963weak
- dermatomyositisORPHA:221weak
- eosinophilic granulomatosis with polyangiitisORPHA:183weak
- familial Mediterranean feverPMID:39256780weak
- giant cell arteritisORPHA:397weak
- granulomatosis with polyangiitisORPHA:900weak
- microscopic polyangiitisPMID:10941351weak
- myotonic dystrophy type 2PMID:37639480weak
- polyarteritis nodosaPMID:29558355weak
- stiff-person syndromeORPHA:3198weak
- systemic sclerosisORPHA:90291weak
Arrhythmia15
cf:arrhythmia
- Duchenne muscular dystrophyPMID:41391906weak
- Kawasaki diseaseORPHA:2331weak
- Leber hereditary optic neuropathyORPHA:104weak
- acromegalyORPHA:963weak
- dermatomyositisORPHA:221weak
- familial Mediterranean feverORPHA:342weak
- familial dilated cardiomyopathyPMID:42336625weak
- granulomatosis with polyangiitisORPHA:900weak
- hereditary hemochromatosisPMID:24574363weak
- hypertrophic cardiomyopathyPMID:42205123weak
- microscopic polyangiitisPMID:40033657weak
- mucopolysaccharidosis type IIORPHA:580weak
- sarcoidosisORPHA:797weak
- transthyretin amyloidosisORPHA:271861weak
- von Hippel-Lindau diseaseORPHA:892weak
Arthritis15
cf:arthritis
- 22q11.2 deletion syndromeORPHA:567weak
- Behçet diseasePMID:37729051weak
- IgA vasculitisORPHA:761weak
- Kawasaki diseaseORPHA:2331weak
- Sjogren syndromeORPHA:289390weak
- X-linked hypophosphatemiaPMID:40358789weak
- alkaptonuriaORPHA:56weak
- autoimmune hepatitisORPHA:2137weak
- dermatomyositisORPHA:221weak
- eosinophilic granulomatosis with polyangiitisORPHA:183weak
- familial Mediterranean feverPMID:42270889weak
- granulomatosis with polyangiitisORPHA:900weak
- microscopic polyangiitisPMID:30404112weak
- sarcoidosisPMID:33807303weak
- systemic sclerosisORPHA:90291weak
Atypical behavior15
cf:atypical_behavior
- 22q11.2 deletion syndromeORPHA:567weak
- Behçet diseasePMID:42082456weak
- Krabbe diseaseORPHA:487weak
- Niemann-Pick disease type CORPHA:646weak
- Prader-Willi syndromeOMIM:176270weak
- Sjogren syndromeORPHA:289390weak
- Sturge-Weber syndromeORPHA:3205weak
- Turner syndromeORPHA:881weak
- Williams syndromeOMIM:194050weak
- X-linked adrenoleukodystrophyORPHA:43weak
- amyotrophic lateral sclerosisORPHA:803weak
- metachromatic leukodystrophyORPHA:512weak
- mucopolysaccharidosis type IIORPHA:580weak
- sporadic Creutzfeldt-Jakob diseaseORPHA:204weak
- tuberous sclerosis complexORPHA:805weak
Childhood onset15
cf:childhood_onset
- Diamond-Blackfan anemiaOMIM:105650weak
- Duchenne muscular dystrophyPMID:16322188weak
- G6PD deficiencyOMIM:300908weak
- Krabbe diseasePMID:30089515weak
- Wilson diseaseOMIM:277900weak
- acid sphingomyelinase deficiencyOMIM:607616weak
- common variable immunodeficiencyOMIM:607594weak
- cystic fibrosisOMIM:219700weak
- epidermolysis bullosaOMIM:131800weak
- hereditary angioedemaOMIM:106100weak
- hereditary spherocytosisPMID:39044243weak
- limb-girdle muscular dystrophyOMIM:253600weak
- long QT syndromeOMIM:603830weak
- mucopolysaccharidosis type IIOMIM:309900weak
- neurofibromatosis type 1OMIM:162200weak
Global developmental delay15
cf:global_developmental_delay
- 22q11.2 deletion syndromePMID:40685150weak
- Angelman syndromePMID:34203304weak
- Diamond-Blackfan anemiaOMIM:105650weak
- Fanconi anemiaORPHA:84weak
- Krabbe diseaseORPHA:487weak
- Niemann-Pick disease type CPMID:39697013weak
- Prader-Willi syndromePMID:11694676weak
- Rett syndromePMID:39251501weak
- Silver-Russell syndromePMID:27585961weak
- acid sphingomyelinase deficiencyOMIM:257200weak
- classic galactosemiaPMID:12350230weak
- maple syrup urine diseasePMID:28919799weak
- mucopolysaccharidosis type IPMID:28193245weak
- mucopolysaccharidosis type IIPMID:41964217weak
- nephropathic cystinosisOMIM:219800weak
Hypotonia15
cf:hypotonia
- 22q11.2 deletion syndromeORPHA:567weak
- Angelman syndromeOMIM:105830weak
- Duchenne muscular dystrophyPMID:19743977weak
- Fragile X syndromeORPHA:908weak
- Krabbe diseasePMID:40560063weak
- Niemann-Pick disease type CORPHA:646weak
- Pompe diseasePMID:41718282weak
- Tay-Sachs diseasePMID:22025593weak
- Williams syndromeORPHA:904weak
- acid sphingomyelinase deficiencyOMIM:257200weak
- dermatomyositisORPHA:221weak
- hypophosphatasiaORPHA:436weak
- maple syrup urine diseasePMID:31302925weak
- metachromatic leukodystrophyOMIM:250100weak
- myotonic dystrophy type 1OMIM:160900weak
Sleep disturbance15
cf:sleep_disturbance
- Fragile X syndromePMID:39768191weak
- Niemann-Pick disease type CORPHA:646weak
- Prader-Willi syndromeOMIM:176270weak
- Rett syndromeORPHA:778weak
- Sturge-Weber syndromeORPHA:3205weak
- Williams syndromeOMIM:194050weak
- X-linked hypophosphatemiaORPHA:89936weak
- amyotrophic lateral sclerosisPMID:40283201weak
- familial Mediterranean feverORPHA:342weak
- mucopolysaccharidosis type IIORPHA:580weak
- myotonic dystrophy type 2ORPHA:606weak
- narcolepsy type 1ORPHA:2073weak
- primary biliary cholangitisPMID:42232646weak
- sporadic Creutzfeldt-Jakob diseaseORPHA:204weak
- tuberous sclerosis complexORPHA:805weak
Visual impairment15
cf:visual_impairment
- Erdheim-Chester diseasePMID:25744785weak
- Fanconi anemiaORPHA:84weak
- Krabbe diseaseORPHA:487weak
- Takayasu arteritisPMID:27420344weak
- Usher syndromePMID:37126974weak
- Williams syndromeORPHA:904weak
- X-linked adrenoleukodystrophyPMID:41986485weak
- giant cell arteritisORPHA:397weak
- granulomatosis with polyangiitisORPHA:900weak
- metachromatic leukodystrophyORPHA:512weak
- mucopolysaccharidosis type IORPHA:579weak
- nephropathic cystinosisPMID:40886257weak
- progressive supranuclear palsyORPHA:683weak
- retinitis pigmentosaORPHA:791weak
- sporadic Creutzfeldt-Jakob diseasePMID:36680361weak
Diarrhea14
cf:diarrhea
- Addison diseaseORPHA:85138weak
- Behçet diseasePMID:10730919weak
- Kawasaki diseaseORPHA:2331weak
- acute intermittent porphyriaORPHA:79276weak
- classic galactosemiaORPHA:79239weak
- common variable immunodeficiencyOMIM:607594weak
- cystic fibrosisOMIM:219700weak
- familial Mediterranean feverORPHA:342weak
- hereditary angioedemaOMIM:106100weak
- microscopic polyangiitisPMID:40033657weak
- mucopolysaccharidosis type IIOMIM:309900weak
- multiple endocrine neoplasia type 1ORPHA:652weak
- multiple endocrine neoplasia type 2PMID:41614693weak
- transthyretin amyloidosisORPHA:271861weak
Dysarthria14
cf:dysarthria
- Erdheim-Chester diseaseORPHA:35687weak
- Friedreich ataxiaPMID:38751907weak
- Niemann-Pick disease type CPMID:33892845weak
- Williams syndromeORPHA:904weak
- Wilson diseaseOMIM:277900weak
- amyotrophic lateral sclerosisPMID:40747856weak
- classic galactosemiaORPHA:79239weak
- hemiplegic migrainePMID:32430436weak
- metachromatic leukodystrophyORPHA:512weak
- multiple system atrophyORPHA:102weak
- myasthenia gravisPMID:41573440weak
- neurofibromatosis type 2ORPHA:637weak
- progressive supranuclear palsyPMID:40250258weak
- spinocerebellar ataxia type 3PMID:40289053weak
Dyspnea14
cf:dyspnea
- Alport syndromeORPHA:63weak
- Erdheim-Chester diseaseORPHA:35687weak
- Pompe diseaseOMIM:232300weak
- acid sphingomyelinase deficiencyOMIM:607616weak
- alpha-1 antitrypsin deficiencyPMID:24267358weak
- amyotrophic lateral sclerosisPMID:41229403weak
- arrhythmogenic right ventricular cardiomyopathyOMIM:609040weak
- hypertrophic cardiomyopathyPMID:40675549weak
- idiopathic pulmonary arterial hypertensionPMID:17536115weak
- lymphangioleiomyomatosisPMID:27833825weak
- myasthenia gravisPMID:41429676weak
- paroxysmal nocturnal hemoglobinuriaPMID:38084255weak
- sarcoidosisPMID:35230389weak
- systemic sclerosisPMID:32113575weak
Infantile onset14
cf:infantile_onset
- Diamond-Blackfan anemiaOMIM:105650weak
- G6PD deficiencyOMIM:300908weak
- Krabbe diseasePMID:40560063weak
- Tay-Sachs diseasePMID:22670494weak
- Usher syndromeOMIM:276900weak
- acid sphingomyelinase deficiencyOMIM:257200weak
- alkaptonuriaOMIM:203500weak
- cystic fibrosisOMIM:219700weak
- hereditary spherocytosisPMID:26009624weak
- mucopolysaccharidosis type IIOMIM:309900weak
- nephropathic cystinosisOMIM:219800weak
- neurofibromatosis type 1OMIM:162200weak
- osteogenesis imperfectaOMIM:166200weak
- spinal muscular atrophyOMIM:253300weak
Sensorineural hearing impairment14
cf:sensorineural_hearing_impairment
- Alport syndromePMID:28864840weak
- Krabbe diseaseORPHA:487weak
- Usher syndromePMID:38525684weak
- Williams syndromeORPHA:904weak
- X-linked hypophosphatemiaORPHA:89936weak
- facioscapulohumeral muscular dystrophyORPHA:269weak
- familial dilated cardiomyopathyORPHA:154weak
- fibrodysplasia ossificans progressivaOMIM:135100weak
- granulomatosis with polyangiitisORPHA:900weak
- mucopolysaccharidosis type IORPHA:579weak
- mucopolysaccharidosis type IIORPHA:580weak
- myotonic dystrophy type 2ORPHA:606weak
- neurofibromatosis type 2PMID:41673019weak
- retinitis pigmentosaORPHA:791weak
Short stature14
cf:short_stature
- 22q11.2 deletion syndromePMID:37074225weak
- Diamond-Blackfan anemiaPMID:8826887weak
- Fanconi anemiaPMID:38146508weak
- Prader-Willi syndromePMID:40703214weak
- Turner syndromePMID:31213699weak
- Williams syndromePMID:36168091weak
- acid sphingomyelinase deficiencyOMIM:607616weak
- congenital adrenal hyperplasiaORPHA:90794weak
- hypophosphatasiaPMID:37362163weak
- mucopolysaccharidosis type IPMID:25599668weak
- mucopolysaccharidosis type IIPMID:41858182weak
- nephropathic cystinosisPMID:38380220weak
- neurofibromatosis type 1OMIM:162200weak
- osteogenesis imperfectaPMID:40650436weak
Young adult onset14
cf:young_adult_onset
- Diamond-Blackfan anemiaOMIM:105650weak
- G6PD deficiencyOMIM:300908weak
- Krabbe diseaseOMIM:245200weak
- Niemann-Pick disease type COMIM:257220weak
- Pompe diseasePMID:41719911weak
- Wilson diseaseOMIM:277900weak
- acid sphingomyelinase deficiencyOMIM:607616weak
- arrhythmogenic right ventricular cardiomyopathyOMIM:609040weak
- common variable immunodeficiencyOMIM:607594weak
- hereditary angioedemaOMIM:106100weak
- hereditary spherocytosisPMID:24762691weak
- hypertrophic cardiomyopathyOMIM:115195weak
- mucopolysaccharidosis type IIOMIM:309900weak
- neurofibromatosis type 2OMIM:101000weak
Anemia13
cf:anemia
- 22q11.2 deletion syndromeOMIM:188400weak
- Erdheim-Chester diseaseORPHA:35687weak
- Fanconi anemiaORPHA:84weak
- Gaucher diseasePMID:11020862weak
- Wilson diseaseOMIM:277900weak
- acid sphingomyelinase deficiencyOMIM:607616weak
- beta-thalassemiaPMID:42302074weak
- fibrodysplasia ossificans progressivaORPHA:337weak
- hereditary hemorrhagic telangiectasiaPMID:38864625weak
- hypophosphatasiaORPHA:436weak
- microscopic polyangiitisPMID:10941351weak
- paroxysmal nocturnal hemoglobinuriaPMID:42215427weak
- sarcoidosisORPHA:797weak
Ataxia13
cf:ataxia
- Angelman syndromePMID:34203304weak
- Behçet diseasePMID:42223561weak
- Erdheim-Chester diseaseORPHA:35687weak
- Krabbe diseaseORPHA:487weak
- Leber hereditary optic neuropathyORPHA:104weak
- Niemann-Pick disease type CPMID:33892845weak
- Usher syndromeORPHA:886weak
- Williams syndromeORPHA:904weak
- classic galactosemiaORPHA:79239weak
- maple syrup urine diseaseORPHA:511weak
- metachromatic leukodystrophyPMID:38494502weak
- neurofibromatosis type 2OMIM:101000weak
- sporadic Creutzfeldt-Jakob diseasePMID:36680361weak
Peripheral neuropathy13
cf:peripheral_neuropathy
- Charcot-Marie-Tooth disease type 1APMID:15239197weak
- Krabbe diseasePMID:30777126weak
- Leber hereditary optic neuropathyORPHA:104weak
- Sjogren syndromeORPHA:289390weak
- acute intermittent porphyriaPMID:27982422weak
- chronic inflammatory demyelinating polyneuropathyPMID:36182621weak
- eosinophilic granulomatosis with polyangiitisPMID:31540965weak
- granulomatosis with polyangiitisORPHA:900weak
- metachromatic leukodystrophyORPHA:512weak
- microscopic polyangiitisPMID:30404112weak
- neurofibromatosis type 2OMIM:101000weak
- polyarteritis nodosaPMID:39316132weak
- sarcoidosisORPHA:797weak
Proteinuria13
cf:proteinuria
- Alport syndromePMID:28864840weak
- Fabry diseasePMID:29618309weak
- IgA vasculitisORPHA:761weak
- Kawasaki diseaseORPHA:2331weak
- Williams syndromeORPHA:904weak
- Wilson diseaseOMIM:277900weak
- atypical hemolytic uremic syndromeORPHA:2134weak
- eosinophilic granulomatosis with polyangiitisORPHA:183weak
- familial Mediterranean feverPMID:41816744weak
- granulomatosis with polyangiitisORPHA:900weak
- hereditary pheochromocytoma-paragangliomaORPHA:29072weak
- nephropathic cystinosisOMIM:219800weak
- systemic sclerosisORPHA:90291weak
Respiratory insufficiency13
cf:respiratory_insufficiency
- Niemann-Pick disease type CORPHA:646weak
- Pompe diseasePMID:42074341weak
- acute intermittent porphyriaORPHA:79276weak
- beta-thalassemiaORPHA:848weak
- dermatomyositisORPHA:221weak
- eosinophilic granulomatosis with polyangiitisORPHA:183weak
- facioscapulohumeral muscular dystrophyPMID:39579597weak
- fibrodysplasia ossificans progressivaORPHA:337weak
- granulomatosis with polyangiitisORPHA:900weak
- hypophosphatasiaORPHA:436weak
- maple syrup urine diseasePMID:34187135weak
- spinal muscular atrophyPMID:38943396weak
- spinocerebellar ataxia type 3PMID:41803961weak
Thrombocytopenia13
cf:thrombocytopenia
- 22q11.2 deletion syndromeORPHA:567weak
- Alport syndromeOMIM:301050weak
- Diamond-Blackfan anemiaPMID:41498485weak
- Fanconi anemiaORPHA:84weak
- Gaucher diseasePMID:11020862weak
- Sjogren syndromeORPHA:289390weak
- Wilson diseaseOMIM:277900weak
- acid sphingomyelinase deficiencyPMID:41692468weak
- atypical hemolytic uremic syndromeORPHA:2134weak
- beta-thalassemiaORPHA:848weak
- paroxysmal nocturnal hemoglobinuriaORPHA:447weak
- sarcoidosisORPHA:797weak
- von Willebrand diseaseORPHA:903weak
Cataract12
cf:cataract
- 22q11.2 deletion syndromeORPHA:567weak
- Behçet diseaseORPHA:117weak
- Fanconi anemiaORPHA:84weak
- Marfan syndromeOMIM:154700weak
- Usher syndromePMID:37466950weak
- Williams syndromeORPHA:904weak
- classic galactosemiaPMID:29274129weak
- myotonic dystrophy type 1PMID:22643181weak
- myotonic dystrophy type 2PMID:37639480weak
- neurofibromatosis type 2PMID:27409481weak
- phenylketonuriaOMIM:261600weak
- sarcoidosisORPHA:797weak
Cognitive impairment12
cf:cognitive_impairment
- Niemann-Pick disease type CPMID:38804481weak
- Sjogren syndromeORPHA:289390weak
- X-linked adrenoleukodystrophyPMID:8009141weak
- amyotrophic lateral sclerosisPMID:37173134weak
- lymphangioleiomyomatosisORPHA:538weak
- mucopolysaccharidosis type IIORPHA:580weak
- myalgic encephalomyelitis/chronic fatigue syndromePMID:42104344weak
- myotonic dystrophy type 2ORPHA:606weak
- nephropathic cystinosisORPHA:411629weak
- progressive supranuclear palsyPMID:38908985weak
- sporadic Creutzfeldt-Jakob diseasePMID:36680361weak
- stiff-person syndromeORPHA:3198weak
Failure to thrive12
cf:failure_to_thrive
- 22q11.2 deletion syndromeORPHA:567weak
- Addison diseaseORPHA:85138weak
- Diamond-Blackfan anemiaOMIM:105650weak
- Krabbe diseaseORPHA:487weak
- Rett syndromeORPHA:778weak
- acid sphingomyelinase deficiencyPMID:28228103weak
- classic galactosemiaPMID:41746225weak
- congenital adrenal hyperplasiaORPHA:90794weak
- cystic fibrosisOMIM:219700weak
- epidermolysis bullosaPMID:40091088weak
- fibrodysplasia ossificans progressivaORPHA:337weak
- nephropathic cystinosisORPHA:411629weak
Headache12
cf:headache
- Behçet diseasePMID:42223561weak
- Sturge-Weber syndromeORPHA:3205weak
- X-linked adrenoleukodystrophyORPHA:43weak
- acromegalyPMID:32995046weak
- giant cell arteritisPMID:35919218weak
- granulomatosis with polyangiitisORPHA:900weak
- multiple endocrine neoplasia type 1ORPHA:652weak
- multiple endocrine neoplasia type 2ORPHA:653weak
- neurofibromatosis type 2OMIM:101000weak
- paroxysmal nocturnal hemoglobinuriaPMID:41821727weak
- sporadic Creutzfeldt-Jakob diseaseORPHA:204weak
- von Hippel-Lindau diseaseORPHA:892weak
Hematuria12
cf:hematuria
- Alport syndromeORPHA:63weak
- IgA vasculitisORPHA:761weak
- atypical hemolytic uremic syndromeORPHA:2134weak
- autosomal dominant polycystic kidney diseasePMID:42315404weak
- eosinophilic granulomatosis with polyangiitisORPHA:183weak
- granulomatosis with polyangiitisORPHA:900weak
- hemophilia BPMID:32133968weak
- hereditary pheochromocytoma-paragangliomaORPHA:29072weak
- lymphangioleiomyomatosisORPHA:538weak
- microscopic polyangiitisPMID:10941351weak
- nephropathic cystinosisOMIM:219800weak
- sickle cell diseasePMID:36165106weak
Hydrocephalus12
cf:hydrocephalus
- 22q11.2 deletion syndromeORPHA:567weak
- Fanconi anemiaORPHA:84weak
- Krabbe diseaseOMIM:245200weak
- Sturge-Weber syndromeORPHA:3205weak
- achondroplasiaPMID:39813116weak
- acromegalyORPHA:963weak
- lymphangioleiomyomatosisORPHA:538weak
- mucopolysaccharidosis type IORPHA:579weak
- mucopolysaccharidosis type IIOMIM:309900weak
- neurofibromatosis type 1PMID:16134300weak
- neurofibromatosis type 2PMID:42168700weak
- primary ciliary dyskinesiaORPHA:244weak
Hyperreflexia12
cf:hyperreflexia
- Angelman syndromeOMIM:105830weak
- Behçet diseasePMID:42223561weak
- Erdheim-Chester diseaseORPHA:35687weak
- Fanconi anemiaORPHA:84weak
- Sturge-Weber syndromeORPHA:3205weak
- Williams syndromeORPHA:904weak
- amyotrophic lateral sclerosisOMIM:105400weak
- hereditary spastic paraplegiaPMID:42277908weak
- metachromatic leukodystrophyOMIM:250100weak
- phenylketonuriaOMIM:261600weak
- spinocerebellar ataxia type 3ORPHA:98757weak
- stiff-person syndromeORPHA:3198weak
Irritability12
cf:irritability
- Behçet diseaseORPHA:117weak
- Fragile X syndromeORPHA:908weak
- Huntington diseasePMID:27296904weak
- Kawasaki diseaseORPHA:2331weak
- Krabbe diseasePMID:30777126weak
- acid sphingomyelinase deficiencyOMIM:257200weak
- beta-thalassemiaORPHA:848weak
- familial Mediterranean feverORPHA:342weak
- hypophosphatasiaORPHA:436weak
- phenylketonuriaOMIM:261600weak
- progressive supranuclear palsyORPHA:683weak
- sporadic Creutzfeldt-Jakob diseaseORPHA:204weak
Nausea and vomiting12
cf:nausea_and_vomiting
- Addison diseasePMID:40720873weak
- Behçet diseasePMID:10730919weak
- Erdheim-Chester diseaseORPHA:35687weak
- IgA vasculitisORPHA:761weak
- Kawasaki diseaseORPHA:2331weak
- Williams syndromeORPHA:904weak
- acute intermittent porphyriaORPHA:79276weak
- eosinophilic granulomatosis with polyangiitisORPHA:183weak
- familial Mediterranean feverORPHA:342weak
- granulomatosis with polyangiitisORPHA:900weak
- microscopic polyangiitisPMID:40033657weak
- transthyretin amyloidosisORPHA:271861weak
Ascites11
cf:ascites
- Niemann-Pick disease type CORPHA:646weak
- Wilson diseaseOMIM:277900weak
- acid sphingomyelinase deficiencyOMIM:257200weak
- autoimmune hepatitisORPHA:2137weak
- classic galactosemiaORPHA:79239weak
- familial Mediterranean feverORPHA:342weak
- hereditary hemochromatosisOMIM:235200weak
- hypertrophic cardiomyopathyOMIM:115197weak
- lymphangioleiomyomatosisPMID:16707400weak
- primary biliary cholangitisORPHA:186weak
- primary sclerosing cholangitisORPHA:171weak
Attention deficit hyperactivity disorder11
cf:attention_deficit_hyperactivity_disorder
- 22q11.2 deletion syndromeORPHA:567weak
- Fragile X syndromePMID:28751920weak
- Prader-Willi syndromeOMIM:176270weak
- Sturge-Weber syndromeORPHA:3205weak
- Turner syndromeORPHA:881weak
- Williams syndromeORPHA:904weak
- X-linked adrenoleukodystrophyORPHA:43weak
- classic galactosemiaORPHA:79239weak
- narcolepsy type 1ORPHA:2073weak
- phenylketonuriaOMIM:261600weak
- tuberous sclerosis complexORPHA:805weak
Blindness11
cf:blindness
- Behçet diseasePMID:32631005weak
- Krabbe diseaseORPHA:487weak
- McCune-Albright syndromePMID:27017329weak
- Sturge-Weber syndromeORPHA:3205weak
- Tay-Sachs diseasePMID:22670494weak
- Usher syndromePMID:37466950weak
- X-linked adrenoleukodystrophyOMIM:300100weak
- nephropathic cystinosisOMIM:219800weak
- neurofibromatosis type 2ORPHA:637weak
- retinitis pigmentosaORPHA:791weak
- sarcoidosisORPHA:797weak
Cirrhosis11
cf:cirrhosis
- Turner syndromePMID:37408200weak
- Wilson diseasePMID:35042319weak
- alpha-1 antitrypsin deficiencyPMID:18565211weak
- autoimmune hepatitisPMID:42229718weak
- classic galactosemiaOMIM:230400weak
- cystic fibrosisPMID:41809454weak
- erythropoietic protoporphyriaPMID:40604827weak
- hereditary hemochromatosisPMID:19444013weak
- hereditary hemorrhagic telangiectasiaORPHA:774weak
- primary biliary cholangitisPMID:35910038weak
- primary sclerosing cholangitisPMID:41871593weak
Glaucoma11
cf:glaucoma
- 22q11.2 deletion syndromeORPHA:567weak
- Marfan syndromeOMIM:154700weak
- Sturge-Weber syndromePMID:40604834weak
- Williams syndromeORPHA:904weak
- alkaptonuriaORPHA:56weak
- fibrodysplasia ossificans progressivaORPHA:337weak
- mucopolysaccharidosis type IORPHA:579weak
- neurofibromatosis type 1OMIM:162200weak
- retinitis pigmentosaORPHA:791weak
- sarcoidosisORPHA:797weak
- transthyretin amyloidosisORPHA:271861weak
Hemoptysis11
cf:hemoptysis
- Behçet diseasePMID:42023413weak
- alpha-1 antitrypsin deficiencyOMIM:613490weak
- cystic fibrosisOMIM:219700weak
- eosinophilic granulomatosis with polyangiitisORPHA:183weak
- granulomatosis with polyangiitisORPHA:900weak
- hereditary hemorrhagic telangiectasiaPMID:39789946weak
- idiopathic pulmonary arterial hypertensionORPHA:275766weak
- lymphangioleiomyomatosisPMID:39858105weak
- microscopic polyangiitisPMID:24847742weak
- sarcoidosisORPHA:797weak
- tuberous sclerosis complexORPHA:805weak
Juvenile onset11
cf:juvenile_onset
- Charcot-Marie-Tooth disease type 1APMID:10586223weak
- G6PD deficiencyOMIM:300908weak
- McCune-Albright syndromePMID:19308500weak
- Niemann-Pick disease type COMIM:257220weak
- Wilson diseaseOMIM:277900weak
- acid sphingomyelinase deficiencyOMIM:607616weak
- hereditary spherocytosisPMID:39044243weak
- hypertrophic cardiomyopathyOMIM:115197weak
- limb-girdle muscular dystrophyOMIM:253600weak
- long QT syndromeOMIM:603830weak
- mucopolysaccharidosis type IIOMIM:309900weak
Optic atrophy11
cf:optic_atrophy
- 22q11.2 deletion syndromeORPHA:567weak
- Friedreich ataxiaORPHA:95weak
- IgA vasculitisORPHA:761weak
- Krabbe diseaseORPHA:487weak
- Leber hereditary optic neuropathyPMID:39578757weak
- Sturge-Weber syndromeORPHA:3205weak
- lymphangioleiomyomatosisORPHA:538weak
- metachromatic leukodystrophyOMIM:250100weak
- mucopolysaccharidosis type IORPHA:579weak
- mucopolysaccharidosis type IIORPHA:580weak
- retinitis pigmentosaORPHA:791weak
Reduced bone mineral density11
cf:reduced_bone_mineral_density
- Fanconi anemiaORPHA:84weak
- Friedreich ataxiaORPHA:95weak
- Hutchinson-Gilford progeria syndromePMID:21445982weak
- Klinefelter syndromePMID:41073368weak
- Turner syndromeORPHA:881weak
- X-linked hypophosphatemiaORPHA:89936weak
- alkaptonuriaORPHA:56weak
- beta-thalassemiaORPHA:848weak
- classic galactosemiaORPHA:79239weak
- multiple endocrine neoplasia type 1ORPHA:652weak
- osteogenesis imperfectaOMIM:166220weak
Vomiting11
cf:vomiting
- Alport syndromeORPHA:63weak
- Krabbe diseaseORPHA:487weak
- Wilson diseaseOMIM:277900weak
- acid sphingomyelinase deficiencyOMIM:257200weak
- acute intermittent porphyriaPMID:9638723weak
- classic galactosemiaPMID:24273939weak
- congenital adrenal hyperplasiaORPHA:90794weak
- hereditary angioedemaOMIM:106100weak
- maple syrup urine diseasePMID:33748233weak
- multiple endocrine neoplasia type 1ORPHA:652weak
- nephropathic cystinosisORPHA:411629weak
Autoimmunity10
cf:autoimmunity
- 22q11.2 deletion syndromePMID:41730804weak
- Addison diseasePMID:40720873weak
- Turner syndromePMID:31213699weak
- dermatomyositisORPHA:221weak
- eosinophilic granulomatosis with polyangiitisORPHA:183weak
- granulomatosis with polyangiitisORPHA:900weak
- hereditary angioedemaOMIM:106100weak
- microscopic polyangiitisPMID:30404112weak
- primary biliary cholangitisPMID:28238692weak
- primary sclerosing cholangitisORPHA:171weak
Gastrointestinal hemorrhage10
cf:gastrointestinal_hemorrhage
- 22q11.2 deletion syndromeORPHA:567weak
- Behçet diseasePMID:18603663weak
- IgA vasculitisPMID:41939557weak
- autoimmune hepatitisORPHA:2137weak
- granulomatosis with polyangiitisORPHA:900weak
- hemophilia BOMIM:306900weak
- hereditary hemorrhagic telangiectasiaPMID:41713948weak
- lymphangioleiomyomatosisORPHA:538weak
- microscopic polyangiitisPMID:40033657weak
- von Willebrand diseasePMID:41453393weak
Generalized hypotonia10
cf:generalized_hypotonia
- Angelman syndromeOMIM:105830weak
- Niemann-Pick disease type COMIM:257220weak
- Prader-Willi syndromePMID:24932597weak
- Tay-Sachs diseasePMID:22025593weak
- Williams syndromeOMIM:194050weak
- classic galactosemiaOMIM:230400weak
- maple syrup urine diseasePMID:31302925weak
- metachromatic leukodystrophyOMIM:250100weak
- myotonic dystrophy type 1OMIM:160900weak
- spinal muscular atrophyPMID:33329961weak
Hypertrophic cardiomyopathy10
cf:hypertrophic_cardiomyopathy
- Fabry diseasePMID:33172708weak
- Fanconi anemiaORPHA:84weak
- Usher syndromeORPHA:886weak
- Williams syndromeORPHA:904weak
- acromegalyORPHA:963weak
- beta-thalassemiaORPHA:848weak
- eosinophilic granulomatosis with polyangiitisORPHA:183weak
- hypertrophic cardiomyopathyOMIM:115195weak
- mucopolysaccharidosis type IORPHA:579weak
- neurofibromatosis type 1OMIM:162200weak
Jaundice10
cf:jaundice
- G6PD deficiencyPMID:36678214weak
- Kawasaki diseaseORPHA:2331weak
- Niemann-Pick disease type CORPHA:646weak
- Wilson diseasePMID:40134168weak
- autoimmune hepatitisORPHA:2137weak
- classic galactosemiaPMID:24273939weak
- hereditary spherocytosisPMID:40740904weak
- primary biliary cholangitisORPHA:186weak
- primary sclerosing cholangitisPMID:41393988weak
- sickle cell diseasePMID:41429861weak
Kidney stone10
cf:kidney_stone
- Beckwith-Wiedemann syndromeOMIM:130650weak
- Williams syndromeORPHA:904weak
- Wilson diseaseOMIM:277900weak
- X-linked hypophosphatemiaORPHA:89936weak
- alkaptonuriaPMID:39925566weak
- fibrodysplasia ossificans progressivaORPHA:337weak
- multiple endocrine neoplasia type 1ORPHA:652weak
- multiple endocrine neoplasia type 2ORPHA:653weak
- nephropathic cystinosisOMIM:219800weak
- sarcoidosisPMID:35761015weak
Kyphosis10
cf:kyphosis
- Prader-Willi syndromeOMIM:176270weak
- Turner syndromeORPHA:881weak
- Williams syndromeORPHA:904weak
- achondroplasiaORPHA:15weak
- acromegalyORPHA:963weak
- alkaptonuriaOMIM:203500weak
- mucopolysaccharidosis type IOMIM:607014weak
- mucopolysaccharidosis type IIOMIM:309900weak
- neurofibromatosis type 1OMIM:162200weak
- osteogenesis imperfectaOMIM:166220weak
Recurrent respiratory infections10
cf:recurrent_respiratory_infections
- Krabbe diseaseORPHA:487weak
- Pompe diseaseOMIM:232300weak
- Prader-Willi syndromeOMIM:176270weak
- Williams syndromeORPHA:904weak
- acid sphingomyelinase deficiencyPMID:38397448weak
- dermatomyositisORPHA:221weak
- granulomatosis with polyangiitisORPHA:900weak
- lymphangioleiomyomatosisORPHA:538weak
- mucopolysaccharidosis type IORPHA:579weak
- spinal muscular atrophyOMIM:253300weak
Respiratory failure10
cf:respiratory_failure
- Duchenne muscular dystrophyPMID:28397169weak
- Krabbe diseaseORPHA:487weak
- Niemann-Pick disease type CORPHA:646weak
- amyotrophic lateral sclerosisPMID:25857659weak
- fibrodysplasia ossificans progressivaOMIM:135100weak
- idiopathic pulmonary fibrosisPMID:42276742weak
- myasthenia gravisPMID:41495972weak
- primary ciliary dyskinesiaORPHA:244weak
- spinal muscular atrophyPMID:42203536weak
- tuberous sclerosis complexORPHA:805weak
Skeletal muscle atrophy10
cf:skeletal_muscle_atrophy
- Becker muscular dystrophyPMID:41633644weak
- Rett syndromeORPHA:778weak
- acid sphingomyelinase deficiencyOMIM:257200weak
- amyotrophic lateral sclerosisPMID:42113599weak
- facioscapulohumeral muscular dystrophyORPHA:269weak
- myasthenia gravisORPHA:589weak
- myotonic dystrophy type 2PMID:37639480weak
- nephropathic cystinosisOMIM:219800weak
- spinocerebellar ataxia type 3ORPHA:98757weak
- transthyretin amyloidosisORPHA:271861weak
Strabismus10
cf:strabismus
- 22q11.2 deletion syndromeORPHA:567weak
- Angelman syndromePMID:41905512weak
- Diamond-Blackfan anemiaORPHA:124weak
- Fanconi anemiaORPHA:84weak
- Fragile X syndromeORPHA:908weak
- Marfan syndromeOMIM:154700weak
- Prader-Willi syndromeOMIM:176270weak
- Sturge-Weber syndromeORPHA:3205weak
- Turner syndromeORPHA:881weak
- Williams syndromeORPHA:904weak
Vasculitis10
cf:vasculitis
- Behçet diseasePMID:18603663weak
- IgA vasculitisORPHA:761weak
- Kawasaki diseasePMID:42145156weak
- Sjogren syndromeORPHA:289390weak
- dermatomyositisORPHA:221weak
- eosinophilic granulomatosis with polyangiitisPMID:42152982weak
- familial Mediterranean feverORPHA:342weak
- giant cell arteritisPMID:29570475weak
- granulomatosis with polyangiitisPMID:30264013weak
- microscopic polyangiitisPMID:17350793weak
Alopecia9
cf:alopecia
- Addison diseaseORPHA:85138weak
- Hutchinson-Gilford progeria syndromePMID:21251803weak
- Turner syndromePMID:31580326weak
- X-linked adrenoleukodystrophyOMIM:300100weak
- dermatomyositisORPHA:221weak
- fibrodysplasia ossificans progressivaORPHA:337weak
- hereditary hemochromatosisOMIM:235200weak
- sarcoidosisORPHA:797weak
- systemic sclerosisORPHA:90291weak
Cardiomyopathy9
cf:cardiomyopathy
- Beckwith-Wiedemann syndromeOMIM:130650weak
- Duchenne muscular dystrophyPMID:27815032weak
- Friedreich ataxiaPMID:40541211weak
- hereditary hemochromatosisPMID:19444013weak
- mucopolysaccharidosis type IOMIM:607014weak
- mucopolysaccharidosis type IIORPHA:580weak
- myotonic dystrophy type 2ORPHA:606weak
- polyarteritis nodosaORPHA:767weak
- von Hippel-Lindau diseaseORPHA:892weak
Chest pain9
cf:chest_pain
- familial Mediterranean feverPMID:42270889weak
- granulomatosis with polyangiitisORPHA:900weak
- hereditary pheochromocytoma-paragangliomaORPHA:29072weak
- hypertrophic cardiomyopathyPMID:40675549weak
- idiopathic pulmonary arterial hypertensionPMID:17536115weak
- lymphangioleiomyomatosisORPHA:538weak
- microscopic polyangiitisPMID:24847742weak
- paroxysmal nocturnal hemoglobinuriaORPHA:447weak
- sarcoidosisPMID:35230389weak
Cholelithiasis9
cf:cholelithiasis
- 22q11.2 deletion syndromeORPHA:567weak
- Williams syndromeORPHA:904weak
- acromegalyORPHA:963weak
- beta-thalassemiaORPHA:848weak
- erythropoietic protoporphyriaPMID:36891180weak
- hereditary spherocytosisPMID:40740904weak
- myotonic dystrophy type 1OMIM:160900weak
- primary sclerosing cholangitisORPHA:171weak
- sickle cell diseasePMID:41665679weak
Clumsiness9
cf:clumsiness
- Angelman syndromeOMIM:105830weak
- Friedreich ataxiaORPHA:95weak
- Krabbe diseaseORPHA:487weak
- Niemann-Pick disease type CORPHA:646weak
- Usher syndromeORPHA:886weak
- X-linked adrenoleukodystrophyORPHA:43weak
- classic galactosemiaORPHA:79239weak
- limb-girdle muscular dystrophyOMIM:253600weak
- spinocerebellar ataxia type 3ORPHA:98757weak
Cough9
cf:cough
- Alport syndromeORPHA:63weak
- Erdheim-Chester diseaseORPHA:35687weak
- alpha-1 antitrypsin deficiencyPMID:24267358weak
- eosinophilic granulomatosis with polyangiitisORPHA:183weak
- granulomatosis with polyangiitisORPHA:900weak
- idiopathic pulmonary fibrosisPMID:32474425weak
- lymphangioleiomyomatosisPMID:39858105weak
- mucopolysaccharidosis type IORPHA:579weak
- sarcoidosisPMID:35230389weak
Delayed speech and language development9
cf:delayed_speech_and_language_development
- 22q11.2 deletion syndromeOMIM:188400weak
- Fragile X syndromePMID:19213487weak
- Niemann-Pick disease type CORPHA:646weak
- Prader-Willi syndromeOMIM:176270weak
- Sturge-Weber syndromeORPHA:3205weak
- classic galactosemiaORPHA:79239weak
- primary ciliary dyskinesiaORPHA:244weak
- progressive supranuclear palsyORPHA:683weak
- spinocerebellar ataxia type 3ORPHA:98757weak
Dementia9
cf:dementia
- Niemann-Pick disease type CPMID:20525256weak
- Sjogren syndromeORPHA:289390weak
- Tay-Sachs diseaseOMIM:272800weak
- Wilson diseaseOMIM:277900weak
- X-linked adrenoleukodystrophyORPHA:43weak
- hereditary spastic paraplegiaOMIM:182601weak
- metachromatic leukodystrophyORPHA:512weak
- progressive supranuclear palsyORPHA:683weak
- sporadic Creutzfeldt-Jakob diseasePMID:36680361weak
Developmental regression9
cf:developmental_regression
- Behçet diseasePMID:42230434weak
- Krabbe diseaseORPHA:487weak
- Niemann-Pick disease type CORPHA:646weak
- Rett syndromePMID:38798575weak
- Williams syndromeORPHA:904weak
- acid sphingomyelinase deficiencyOMIM:257200weak
- metachromatic leukodystrophyPMID:16291896weak
- mucopolysaccharidosis type IORPHA:579weak
- mucopolysaccharidosis type IIORPHA:580weak
Dystonia9
cf:dystonia
- Friedreich ataxiaORPHA:95weak
- Huntington diseaseORPHA:399weak
- Niemann-Pick disease type CPMID:33892845weak
- Rett syndromeORPHA:778weak
- Wilson diseaseOMIM:277900weak
- classic galactosemiaORPHA:79239weak
- metachromatic leukodystrophyORPHA:512weak
- progressive supranuclear palsyORPHA:683weak
- spinocerebellar ataxia type 3PMID:40721863weak
Feeding difficulties in infancy9
cf:feeding_difficulties_in_infancy
- 22q11.2 deletion syndromeORPHA:567weak
- Angelman syndromeOMIM:105830weak
- Prader-Willi syndromePMID:38934057weak
- Williams syndromePMID:33990852weak
- acid sphingomyelinase deficiencyOMIM:257200weak
- dermatomyositisORPHA:221weak
- hypophosphatasiaORPHA:436weak
- maple syrup urine diseasePMID:28919799weak
- myotonic dystrophy type 1OMIM:160900weak
Micrognathia9
cf:micrognathia
- 22q11.2 deletion syndromeORPHA:567weak
- Diamond-Blackfan anemiaORPHA:124weak
- Fanconi anemiaORPHA:84weak
- Hutchinson-Gilford progeria syndromeOMIM:176670weak
- Loeys-Dietz syndromeORPHA:60030weak
- Marfan syndromeOMIM:154700weak
- Silver-Russell syndromeOMIM:180860weak
- Turner syndromeORPHA:881weak
- Williams syndromeORPHA:904weak
Myocardial infarction9
cf:myocardial_infarction
- Behçet diseaseORPHA:117weak
- Hutchinson-Gilford progeria syndromeOMIM:176670weak
- Turner syndromeORPHA:881weak
- Williams syndromeORPHA:904weak
- alkaptonuriaORPHA:56weak
- dermatomyositisORPHA:221weak
- eosinophilic granulomatosis with polyangiitisORPHA:183weak
- familial Mediterranean feverORPHA:342weak
- von Hippel-Lindau diseaseORPHA:892weak
Nystagmus9
cf:nystagmus
- Angelman syndromeOMIM:105830weak
- Erdheim-Chester diseaseORPHA:35687weak
- Fanconi anemiaORPHA:84weak
- Friedreich ataxiaORPHA:95weak
- Krabbe diseaseOMIM:245200weak
- Usher syndromeORPHA:886weak
- hereditary spastic paraplegiaOMIM:182601weak
- retinitis pigmentosaORPHA:791weak
- spinocerebellar ataxia type 3PMID:42115447weak
Osteoporosis9
cf:osteoporosis
- Prader-Willi syndromeOMIM:176270weak
- Turner syndromePMID:31213699weak
- Williams syndromeORPHA:904weak
- Wilson diseaseOMIM:277900weak
- acid sphingomyelinase deficiencyOMIM:257200weak
- classic galactosemiaORPHA:79239weak
- hereditary hemochromatosisOMIM:235200weak
- primary biliary cholangitisPMID:14585238weak
- primary sclerosing cholangitisORPHA:171weak
Pericarditis9
cf:pericarditis
- Behçet diseasePMID:18603663weak
- Kawasaki diseaseORPHA:2331weak
- dermatomyositisORPHA:221weak
- familial Mediterranean feverORPHA:342weak
- granulomatosis with polyangiitisORPHA:900weak
- microscopic polyangiitisPMID:40033657weak
- neurofibromatosis type 1OMIM:162200weak
- polyarteritis nodosaORPHA:767weak
- systemic sclerosisORPHA:90291weak
Psychosis9
cf:psychosis
- Huntington diseasePMID:27296904weak
- Niemann-Pick disease type CPMID:31197681weak
- Prader-Willi syndromeOMIM:176270weak
- Usher syndromeORPHA:886weak
- X-linked adrenoleukodystrophyOMIM:300100weak
- metachromatic leukodystrophyORPHA:512weak
- myasthenia gravisORPHA:589weak
- narcolepsy type 1ORPHA:2073weak
- phenylketonuriaOMIM:261600weak
Stroke9
cf:stroke
- Fabry diseasePMID:33172708weak
- Hutchinson-Gilford progeria syndromePMID:21251803weak
- Sturge-Weber syndromeORPHA:3205weak
- Takayasu arteritisPMID:41702324moderate
- Williams syndromeORPHA:904weak
- hypertrophic cardiomyopathyOMIM:115197weak
- paroxysmal nocturnal hemoglobinuriaORPHA:447weak
- sickle cell diseasePMID:35172625weak
- von Hippel-Lindau diseaseORPHA:892weak
Syncope9
cf:syncope
- Brugada syndromePMID:41280527weak
- Takayasu arteritisPMID:27420344weak
- arrhythmogenic right ventricular cardiomyopathyOMIM:609040weak
- catecholaminergic polymorphic ventricular tachycardiaPMID:34483927weak
- hypertrophic cardiomyopathyPMID:37445689weak
- idiopathic pulmonary arterial hypertensionPMID:17536115weak
- long QT syndromePMID:41596527weak
- narcolepsy type 1ORPHA:2073weak
- systemic sclerosisORPHA:90291weak
Venous thrombosis9
cf:venous_thrombosis
- Behçet diseasePMID:18603663weak
- Klinefelter syndromePMID:39932051well_established
- Sturge-Weber syndromeORPHA:3205weak
- beta-thalassemiaORPHA:848weak
- eosinophilic granulomatosis with polyangiitisORPHA:183weak
- granulomatosis with polyangiitisORPHA:900weak
- hereditary hemorrhagic telangiectasiaPMID:41843464weak
- microscopic polyangiitisPMID:41408677weak
- paroxysmal nocturnal hemoglobinuriaPMID:42253628weak
Vertigo9
cf:vertigo
- Addison diseaseORPHA:85138weak
- Behçet diseaseORPHA:117weak
- catecholaminergic polymorphic ventricular tachycardiaORPHA:3286weak
- hemiplegic migrainePMID:42067833weak
- neurofibromatosis type 2OMIM:101000weak
- progressive supranuclear palsyORPHA:683weak
- sporadic Creutzfeldt-Jakob diseaseORPHA:204weak
- stiff-person syndromeORPHA:3198weak
- von Hippel-Lindau diseaseORPHA:892weak
Conductive hearing impairment8
cf:conductive_hearing_impairment
- 22q11.2 deletion syndromeORPHA:567weak
- Hutchinson-Gilford progeria syndromeORPHA:740weak
- achondroplasiaOMIM:100800weak
- fibrodysplasia ossificans progressivaOMIM:135100weak
- hereditary pheochromocytoma-paragangliomaORPHA:29072weak
- mucopolysaccharidosis type IIORPHA:580weak
- primary ciliary dyskinesiaORPHA:244weak
- retinitis pigmentosaORPHA:791weak
Cranial nerve paralysis8
cf:cranial_nerve_paralysis
- Behçet diseaseORPHA:117weak
- Fanconi anemiaORPHA:84weak
- Kawasaki diseaseORPHA:2331weak
- acromegalyORPHA:963weak
- acute intermittent porphyriaORPHA:79276weak
- eosinophilic granulomatosis with polyangiitisORPHA:183weak
- granulomatosis with polyangiitisORPHA:900weak
- neurofibromatosis type 2ORPHA:637weak
Elevated circulating creatine kinase activity8
cf:elevated_circulating_creatine_kinase_act
- Becker muscular dystrophyPMID:41633644weak
- Duchenne muscular dystrophyPMID:41037163weak
- Pompe diseasePMID:41935418weak
- Williams syndromeORPHA:904weak
- dermatomyositisPMID:41877413weak
- facioscapulohumeral muscular dystrophyORPHA:269weak
- limb-girdle muscular dystrophyPMID:42387671weak
- systemic sclerosisORPHA:90291weak
Elevated circulating hepatic transaminase concentration8
cf:elevated_circulating_hepatic_transaminas
- Becker muscular dystrophyORPHA:98895weak
- Turner syndromeORPHA:881weak
- alpha-1 antitrypsin deficiencyPMID:18565211weak
- autoimmune hepatitisPMID:42377010weak
- classic galactosemiaORPHA:79239weak
- dermatomyositisORPHA:221weak
- hereditary hemochromatosisPMID:19444013weak
- primary sclerosing cholangitisORPHA:171weak
Frontal bossing8
cf:frontal_bossing
- Fanconi anemiaORPHA:84weak
- Fragile X syndromeORPHA:908weak
- Silver-Russell syndromePMID:33920573weak
- X-linked hypophosphatemiaORPHA:89936weak
- achondroplasiaPMID:17224659weak
- acromegalyORPHA:963weak
- mucopolysaccharidosis type IOMIM:607014weak
- nephropathic cystinosisOMIM:219800weak
Growth delay8
cf:growth_delay
- Diamond-Blackfan anemiaORPHA:124weak
- Fanconi anemiaORPHA:84weak
- Hutchinson-Gilford progeria syndromePMID:40644604weak
- Rett syndromeORPHA:778weak
- Turner syndromeORPHA:881weak
- X-linked hypophosphatemiaPMID:38335127weak
- mucopolysaccharidosis type IIORPHA:580weak
- nephropathic cystinosisPMID:14610675weak
Hemolytic anemia8
cf:hemolytic_anemia
- Wilson diseaseOMIM:277900weak
- alkaptonuriaORPHA:56weak
- classic galactosemiaOMIM:230400weak
- hereditary spherocytosisPMID:40008208weak
- myasthenia gravisORPHA:589weak
- paroxysmal nocturnal hemoglobinuriaPMID:33512400weak
- sarcoidosisORPHA:797weak
- sickle cell diseasePMID:41665679weak
Hepatocellular carcinoma8
cf:hepatocellular_carcinoma
- Silver-Russell syndromeOMIM:180860weak
- Wilson diseaseOMIM:277900weak
- acute intermittent porphyriaORPHA:79276weak
- alpha-1 antitrypsin deficiencyPMID:17519511weak
- autoimmune hepatitisORPHA:2137weak
- hereditary hemochromatosisPMID:19444013weak
- primary biliary cholangitisORPHA:186weak
- primary sclerosing cholangitisORPHA:171weak
Hyperhidrosis8
cf:hyperhidrosis
- Erdheim-Chester diseaseORPHA:35687weak
- acromegalyPMID:22309962weak
- acute intermittent porphyriaORPHA:79276weak
- multiple endocrine neoplasia type 2ORPHA:653weak
- myotonic dystrophy type 2ORPHA:606weak
- narcolepsy type 1ORPHA:2073weak
- stiff-person syndromeORPHA:3198weak
- von Hippel-Lindau diseaseORPHA:892weak
Joint hypermobility8
cf:joint_hypermobility
- 22q11.2 deletion syndromeORPHA:567weak
- Fragile X syndromePMID:41080057weak
- Loeys-Dietz syndromeORPHA:60030weak
- Marfan syndromePMID:24008997weak
- Williams syndromeORPHA:904weak
- Wilson diseaseOMIM:277900weak
- multiple endocrine neoplasia type 2ORPHA:653weak
- osteogenesis imperfectaOMIM:166200weak
Macrocephaly8
cf:macrocephaly
- Fragile X syndromeORPHA:908weak
- Sturge-Weber syndromeORPHA:3205weak
- Tay-Sachs diseasePMID:22723944weak
- achondroplasiaPMID:39813116weak
- acid sphingomyelinase deficiencyOMIM:257200weak
- mucopolysaccharidosis type IORPHA:579weak
- mucopolysaccharidosis type IIORPHA:580weak
- neurofibromatosis type 1OMIM:162200weak
Mental deterioration8
cf:mental_deterioration
- Huntington diseasePMID:34413240weak
- Niemann-Pick disease type CORPHA:646weak
- X-linked adrenoleukodystrophyOMIM:300100weak
- acid sphingomyelinase deficiencyOMIM:607616weak
- acute intermittent porphyriaORPHA:79276weak
- classic galactosemiaORPHA:79239weak
- metachromatic leukodystrophyPMID:38494502weak
- mucopolysaccharidosis type IIORPHA:580weak
Mitral regurgitation8
cf:mitral_regurgitation
- Behçet diseaseORPHA:117weak
- Hutchinson-Gilford progeria syndromeORPHA:740weak
- Loeys-Dietz syndromeORPHA:60030weak
- Marfan syndromeOMIM:154700weak
- Williams syndromeORPHA:904weak
- acromegalyORPHA:963weak
- alkaptonuriaORPHA:56weak
- mucopolysaccharidosis type IOMIM:607014weak
Myopia8
cf:myopia
- Alport syndromePMID:38022159weak
- Angelman syndromePMID:41905512weak
- Loeys-Dietz syndromeORPHA:60030weak
- Marfan syndromePMID:39366558weak
- Prader-Willi syndromeOMIM:176270weak
- Turner syndromeORPHA:881weak
- Usher syndromePMID:37466950weak
- Williams syndromeORPHA:904weak
Paresthesia8
cf:paresthesia
- Behçet diseasePMID:42223561weak
- acromegalyORPHA:963weak
- acute intermittent porphyriaOMIM:176000weak
- chronic inflammatory demyelinating polyneuropathyPMID:36182621weak
- hemiplegic migrainePMID:37247170weak
- microscopic polyangiitisPMID:30404112weak
- mucopolysaccharidosis type IORPHA:579weak
- myasthenia gravisORPHA:589weak
Pleural effusion8
cf:pleural_effusion
- Behçet diseasePMID:18603663weak
- Erdheim-Chester diseaseORPHA:35687weak
- Pompe diseaseOMIM:232300weak
- eosinophilic granulomatosis with polyangiitisORPHA:183weak
- granulomatosis with polyangiitisORPHA:900weak
- hereditary hemochromatosisOMIM:235200weak
- primary sclerosing cholangitisORPHA:171weak
- sarcoidosisORPHA:797weak
Ptosis8
cf:ptosis
- 22q11.2 deletion syndromeORPHA:567weak
- Diamond-Blackfan anemiaORPHA:124weak
- Erdheim-Chester diseaseORPHA:35687weak
- Fanconi anemiaORPHA:84weak
- Kawasaki diseaseORPHA:2331weak
- Turner syndromeORPHA:881weak
- mucopolysaccharidosis type IIOMIM:309900weak
- myasthenia gravisPMID:31424417weak
Recurrent otitis media8
cf:recurrent_otitis_media
- 22q11.2 deletion syndromePMID:40615621weak
- Turner syndromeORPHA:881weak
- Williams syndromeOMIM:194050weak
- achondroplasiaOMIM:100800weak
- common variable immunodeficiencyOMIM:607594weak
- mucopolysaccharidosis type IOMIM:607014weak
- mucopolysaccharidosis type IIOMIM:309900weak
- primary ciliary dyskinesiaORPHA:244weak
Skin rash8
cf:skin_rash
- Erdheim-Chester diseaseORPHA:35687weak
- IgA vasculitisORPHA:761weak
- Kawasaki diseaseORPHA:2331weak
- dermatomyositisORPHA:221weak
- eosinophilic granulomatosis with polyangiitisORPHA:183weak
- familial Mediterranean feverORPHA:342weak
- granulomatosis with polyangiitisORPHA:900weak
- microscopic polyangiitisPMID:30404112weak
Specific learning disability8
cf:specific_learning_disability
- 22q11.2 deletion syndromeORPHA:567weak
- Niemann-Pick disease type CORPHA:646weak
- Prader-Willi syndromeOMIM:176270weak
- Turner syndromeORPHA:881weak
- X-linked adrenoleukodystrophyORPHA:43weak
- classic galactosemiaORPHA:79239weak
- neurofibromatosis type 1PMID:11898512weak
- tuberous sclerosis complexORPHA:805weak
Abnormal pulmonary interstitial morphology7
cf:abnormal_pulmonary_interstitial_morpholo
- Erdheim-Chester diseaseORPHA:35687weak
- Kawasaki diseaseORPHA:2331weak
- Sjogren syndromeORPHA:289390weak
- acid sphingomyelinase deficiencyOMIM:607616weak
- dermatomyositisPMID:40770118weak
- idiopathic pulmonary fibrosisORPHA:2032weak
- systemic sclerosisPMID:32113575weak
Atrial septal defect7
cf:atrial_septal_defect
- 22q11.2 deletion syndromeORPHA:567weak
- Diamond-Blackfan anemiaORPHA:124weak
- Fanconi anemiaORPHA:84weak
- Turner syndromeORPHA:881weak
- Williams syndromeORPHA:904weak
- neurofibromatosis type 1OMIM:162200weak
- spinal muscular atrophyOMIM:253300weak
Bruising susceptibility7
cf:bruising_susceptibility
- Fanconi anemiaOMIM:227650weak
- IgA vasculitisORPHA:761weak
- Loeys-Dietz syndromeORPHA:60030weak
- hemophilia AOMIM:306700weak
- hemophilia BPMID:26914731weak
- osteogenesis imperfectaOMIM:166200weak
- von Willebrand diseaseORPHA:903weak
Dysphonia7
cf:dysphonia
- Friedreich ataxiaORPHA:95weak
- Niemann-Pick disease type CORPHA:646weak
- Williams syndromeORPHA:904weak
- amyotrophic lateral sclerosisORPHA:803weak
- dermatomyositisPMID:42242957weak
- hereditary pheochromocytoma-paragangliomaORPHA:29072weak
- myasthenia gravisORPHA:589weak
Edema7
cf:edema
- IgA vasculitisORPHA:761weak
- Kawasaki diseasePMID:41441313weak
- Prader-Willi syndromeOMIM:176270weak
- Wilson diseaseOMIM:277900weak
- dermatomyositisORPHA:221weak
- erythropoietic protoporphyriaPMID:40412707weak
- familial dilated cardiomyopathyPMID:38561731weak
Erythema7
cf:erythema
- IgA vasculitisORPHA:761weak
- dermatomyositisORPHA:221weak
- erythropoietic protoporphyriaPMID:40412707weak
- familial Mediterranean feverORPHA:342weak
- hereditary angioedemaOMIM:106100weak
- microscopic polyangiitisPMID:30404112weak
- polyarteritis nodosaORPHA:767weak
Excessive daytime somnolence7
cf:excessive_daytime_somnolence
- Prader-Willi syndromePMID:42154139weak
- acromegalyORPHA:963weak
- acute intermittent porphyriaORPHA:79276weak
- myotonic dystrophy type 1PMID:26566479weak
- myotonic dystrophy type 2ORPHA:606weak
- narcolepsy type 1ORPHA:2073weak
- primary biliary cholangitisORPHA:186weak
Feeding difficulties7
cf:feeding_difficulties
- Krabbe diseasePMID:30777126weak
- Niemann-Pick disease type CORPHA:646weak
- Silver-Russell syndromePMID:41918381weak
- achondroplasiaOMIM:100800weak
- classic galactosemiaORPHA:79239weak
- congenital adrenal hyperplasiaORPHA:90794weak
- metachromatic leukodystrophyORPHA:512weak
Flexion contracture7
cf:flexion_contracture
- Duchenne muscular dystrophyPMID:30275252weak
- Marfan syndromeOMIM:154700weak
- Williams syndromeOMIM:194050weak
- limb-girdle muscular dystrophyPMID:41761360weak
- mucopolysaccharidosis type IPMID:28973713weak
- mucopolysaccharidosis type IIOMIM:309900weak
- systemic sclerosisORPHA:90291weak
Gastroesophageal reflux7
cf:gastroesophageal_reflux
- 22q11.2 deletion syndromeORPHA:567weak
- Fragile X syndromeORPHA:908weak
- Williams syndromeORPHA:904weak
- eosinophilic granulomatosis with polyangiitisORPHA:183weak
- idiopathic pulmonary fibrosisORPHA:2032weak
- multiple endocrine neoplasia type 1ORPHA:652weak
- systemic sclerosisPMID:31276037weak
Hypercalcemia7
cf:hypercalcemia
- Addison diseaseORPHA:85138weak
- Williams syndromePMID:36168091weak
- hereditary pheochromocytoma-paragangliomaORPHA:29072weak
- hypophosphatasiaPMID:42170448weak
- multiple endocrine neoplasia type 1PMID:40878942weak
- multiple endocrine neoplasia type 2PMID:41938302weak
- sarcoidosisPMID:33807303weak
Hypogonadotropic hypogonadism7
cf:hypogonadotropic_hypogonadism
- Erdheim-Chester diseaseORPHA:35687weak
- Prader-Willi syndromePMID:11694676weak
- Williams syndromeORPHA:904weak
- acromegalyORPHA:963weak
- beta-thalassemiaORPHA:848weak
- congenital adrenal hyperplasiaORPHA:90794weak
- hereditary hemochromatosisPMID:38473913weak
Intrauterine growth retardation7
cf:intrauterine_growth_retardation
- 22q11.2 deletion syndromeORPHA:567weak
- Diamond-Blackfan anemiaOMIM:105650weak
- Fanconi anemiaORPHA:84weak
- Prader-Willi syndromeOMIM:176270weak
- Silver-Russell syndromePMID:38596219weak
- Turner syndromeORPHA:881weak
- Williams syndromeOMIM:194050weak
Lymphadenopathy7
cf:lymphadenopathy
- Behçet diseaseORPHA:117weak
- Sjogren syndromeORPHA:289390weak
- acid sphingomyelinase deficiencyOMIM:257200weak
- common variable immunodeficiencyOMIM:607594weak
- familial Mediterranean feverORPHA:342weak
- lymphangioleiomyomatosisPMID:16707400weak
- sarcoidosisPMID:33807303weak
Macroglossia7
cf:macroglossia
- Angelman syndromeOMIM:105830weak
- Beckwith-Wiedemann syndromePMID:39774467weak
- Pompe diseaseOMIM:232300weak
- Williams syndromeORPHA:904weak
- acromegalyORPHA:963weak
- mucopolysaccharidosis type IPMID:25345091weak
- mucopolysaccharidosis type IIORPHA:580weak
Memory impairment7
cf:memory_impairment
- Behçet diseasePMID:42230434weak
- Huntington diseasePMID:42048072weak
- acute intermittent porphyriaORPHA:79276weak
- hereditary spastic paraplegiaOMIM:182601weak
- neurofibromatosis type 2ORPHA:637weak
- progressive supranuclear palsyORPHA:683weak
- sporadic Creutzfeldt-Jakob diseaseORPHA:204weak
Obesity7
cf:obesity
- 22q11.2 deletion syndromeORPHA:567weak
- Angelman syndromeOMIM:105830weak
- Prader-Willi syndromePMID:30323638weak
- Turner syndromePMID:33381083weak
- Williams syndromeORPHA:904weak
- achondroplasiaORPHA:15weak
- narcolepsy type 1ORPHA:2073weak
Osteoarthritis7
cf:osteoarthritis
- Hutchinson-Gilford progeria syndromeORPHA:740weak
- Wilson diseaseOMIM:277900weak
- acromegalyORPHA:963weak
- alkaptonuriaPMID:41480888weak
- familial Mediterranean feverORPHA:342weak
- hemophilia AOMIM:306700weak
- hemophilia BPMID:41967712weak
Pallor7
cf:pallor
- Diamond-Blackfan anemiaORPHA:124weak
- G6PD deficiencyOMIM:300908weak
- Tay-Sachs diseaseOMIM:272800weak
- beta-thalassemiaORPHA:848weak
- hereditary pheochromocytoma-paragangliomaORPHA:29072weak
- multiple endocrine neoplasia type 2ORPHA:653weak
- von Hippel-Lindau diseaseORPHA:892weak
Pancreatitis7
cf:pancreatitis
- Behçet diseasePMID:10730919weak
- cystic fibrosisOMIM:219700weak
- familial Mediterranean feverORPHA:342weak
- granulomatosis with polyangiitisORPHA:900weak
- maple syrup urine diseaseOMIM:248600weak
- microscopic polyangiitisPMID:40033657weak
- primary sclerosing cholangitisORPHA:171weak
Pes planus7
cf:pes_planus
- Becker muscular dystrophyORPHA:98895weak
- Fanconi anemiaORPHA:84weak
- Fragile X syndromeORPHA:908weak
- Loeys-Dietz syndromeORPHA:60030weak
- Marfan syndromeOMIM:154700weak
- Turner syndromeORPHA:881weak
- Williams syndromeORPHA:904weak
Raynaud phenomenon7
cf:raynaud_phenomenon
- Hutchinson-Gilford progeria syndromeORPHA:740weak
- Sjogren syndromeORPHA:289390weak
- dermatomyositisORPHA:221weak
- multiple system atrophyORPHA:102weak
- myasthenia gravisORPHA:589weak
- polyarteritis nodosaORPHA:767weak
- systemic sclerosisPMID:38479828weak
Skin ulcer7
cf:skin_ulcer
- IgA vasculitisORPHA:761weak
- Sjogren syndromeORPHA:289390weak
- beta-thalassemiaORPHA:848weak
- dermatomyositisORPHA:221weak
- granulomatosis with polyangiitisORPHA:900weak
- microscopic polyangiitisPMID:10941351weak
- polyarteritis nodosaPMID:28547523weak
Spasticity7
cf:spasticity
- Friedreich ataxiaPMID:38751907weak
- Krabbe diseaseORPHA:487weak
- Niemann-Pick disease type COMIM:257220weak
- Williams syndromeORPHA:904weak
- acid sphingomyelinase deficiencyOMIM:257200weak
- amyotrophic lateral sclerosisPMID:42113599weak
- sporadic Creutzfeldt-Jakob diseaseORPHA:204weak
Tremor7
cf:tremor
- Niemann-Pick disease type CORPHA:646weak
- Williams syndromeORPHA:904weak
- Wilson diseaseOMIM:277900weak
- acute intermittent porphyriaORPHA:79276weak
- hereditary pheochromocytoma-paragangliomaORPHA:29072weak
- metachromatic leukodystrophyORPHA:512weak
- progressive supranuclear palsyORPHA:683weak
Type II diabetes mellitus7
cf:type_ii_diabetes_mellitus
- Klinefelter syndromePMID:41237827weak
- Prader-Willi syndromeOMIM:176270weak
- Turner syndromePMID:31213699weak
- Williams syndromeORPHA:904weak
- acromegalyORPHA:963weak
- myotonic dystrophy type 1PMID:41018201weak
- myotonic dystrophy type 2PMID:37639480weak
Visual loss7
cf:visual_loss
- Sturge-Weber syndromeORPHA:3205weak
- Usher syndromeOMIM:276900weak
- X-linked adrenoleukodystrophyORPHA:43weak
- facioscapulohumeral muscular dystrophyORPHA:269weak
- giant cell arteritisPMID:35919218weak
- neurofibromatosis type 2ORPHA:637weak
- von Hippel-Lindau diseaseORPHA:892weak
Aggressive behavior6
cf:aggressive_behavior
- Niemann-Pick disease type CORPHA:646weak
- X-linked adrenoleukodystrophyORPHA:43weak
- hereditary spastic paraplegiaOMIM:182601weak
- mucopolysaccharidosis type IIORPHA:580weak
- phenylketonuriaOMIM:261600weak
- tuberous sclerosis complexORPHA:805weak
Apathy6
cf:apathy
- Huntington diseasePMID:27296904weak
- Niemann-Pick disease type CORPHA:646weak
- Tay-Sachs diseaseOMIM:272800weak
- hereditary spastic paraplegiaOMIM:182601weak
- progressive supranuclear palsyPMID:42115350weak
- sporadic Creutzfeldt-Jakob diseaseORPHA:204weak
Bronchiectasis6
cf:bronchiectasis
- alpha-1 antitrypsin deficiencyPMID:41892821weak
- common variable immunodeficiencyPMID:42227882weak
- cystic fibrosisPMID:27143075weak
- idiopathic pulmonary fibrosisORPHA:2032weak
- primary ciliary dyskinesiaPMID:42134984weak
- sarcoidosisORPHA:797weak
Cardiac arrest6
cf:cardiac_arrest
- Brugada syndromePMID:41280527weak
- Loeys-Dietz syndromeORPHA:60030weak
- arrhythmogenic right ventricular cardiomyopathyOMIM:609040weak
- catecholaminergic polymorphic ventricular tachycardiaPMID:34502196weak
- hypertrophic cardiomyopathyOMIM:115197weak
- long QT syndromePMID:41266879weak
Cardiomegaly6
cf:cardiomegaly
- Beckwith-Wiedemann syndromePMID:35179302weak
- Pompe diseasePMID:41718282weak
- Williams syndromeORPHA:904weak
- hereditary hemochromatosisOMIM:235200weak
- hypertrophic cardiomyopathyOMIM:115197weak
- sickle cell diseasePMID:35172625weak
Cerebral cortical atrophy6
cf:cerebral_cortical_atrophy
- Angelman syndromeOMIM:105830weak
- Fragile X syndromeORPHA:908weak
- Sturge-Weber syndromeORPHA:3205weak
- Usher syndromeORPHA:886weak
- Williams syndromeORPHA:904weak
- progressive supranuclear palsyORPHA:683weak
Chronic otitis media6
cf:chronic_otitis_media
- 22q11.2 deletion syndromePMID:41800660weak
- Fragile X syndromeORPHA:908weak
- Williams syndromeORPHA:904weak
- granulomatosis with polyangiitisORPHA:900weak
- mucopolysaccharidosis type IORPHA:579weak
- primary ciliary dyskinesiaORPHA:244weak
Congenital onset6
cf:congenital_onset
- Diamond-Blackfan anemiaOMIM:105650weak
- G6PD deficiencyOMIM:300908weak
- Prader-Willi syndromeOMIM:176270weak
- achondroplasiaOMIM:100800weak
- epidermolysis bullosaPMID:38085193weak
- fibrodysplasia ossificans progressivaOMIM:135100weak
Cryptorchidism6
cf:cryptorchidism
- 22q11.2 deletion syndromeORPHA:567weak
- Beckwith-Wiedemann syndromeOMIM:130650weak
- Fanconi anemiaORPHA:84weak
- Prader-Willi syndromeOMIM:176270weak
- Williams syndromeORPHA:904weak
- classic galactosemiaORPHA:79239weak
Diabetes mellitus6
cf:diabetes_mellitus
- Friedreich ataxiaPMID:42291695weak
- Williams syndromeOMIM:194050weak
- acromegalyPMID:22309962weak
- hereditary hemochromatosisPMID:19444013weak
- nephropathic cystinosisOMIM:219800weak
- stiff-person syndromePMID:15140273weak
Diplopia6
cf:diplopia
- X-linked adrenoleukodystrophyORPHA:43weak
- hemiplegic migrainePMID:42067833weak
- myasthenia gravisPMID:31424417weak
- neurofibromatosis type 2ORPHA:637weak
- spinocerebellar ataxia type 3PMID:41963867weak
- stiff-person syndromeORPHA:3198weak
Elevated erythrocyte sedimentation rate6
cf:elevated_erythrocyte_sedimentation_rate
- Behçet diseasePMID:42023413weak
- Kawasaki diseaseORPHA:2331weak
- familial Mediterranean feverPMID:41816744weak
- giant cell arteritisPMID:35919218weak
- granulomatosis with polyangiitisORPHA:900weak
- microscopic polyangiitisORPHA:727weak
Epistaxis6
cf:epistaxis
- granulomatosis with polyangiitisPMID:41622276weak
- hemophilia AOMIM:306700weak
- hemophilia BPMID:27011682weak
- hereditary hemorrhagic telangiectasiaPMID:41178403weak
- microscopic polyangiitisPMID:10941351weak
- von Willebrand diseasePMID:41902888weak
Genu valgum6
cf:genu_valgum
- Prader-Willi syndromeOMIM:176270weak
- Turner syndromeORPHA:881weak
- Williams syndromeORPHA:904weak
- X-linked hypophosphatemiaORPHA:89936weak
- nephropathic cystinosisOMIM:219800weak
- neurofibromatosis type 1OMIM:162200weak
Glomerulonephritis6
cf:glomerulonephritis
- Behçet diseaseORPHA:117weak
- Sjogren syndromeORPHA:289390weak
- autoimmune hepatitisORPHA:2137weak
- granulomatosis with polyangiitisPMID:41622276weak
- microscopic polyangiitisPMID:30404112weak
- systemic sclerosisORPHA:90291weak
Hepatic failure6
cf:hepatic_failure
- Niemann-Pick disease type CORPHA:646weak
- Wilson diseaseOMIM:277900weak
- classic galactosemiaPMID:41746225weak
- hereditary hemorrhagic telangiectasiaORPHA:774weak
- primary biliary cholangitisPMID:41077769weak
- sarcoidosisORPHA:797weak
High palate6
cf:high_palate
- 22q11.2 deletion syndromeOMIM:188400weak
- Diamond-Blackfan anemiaORPHA:124weak
- Fanconi anemiaORPHA:84weak
- Hutchinson-Gilford progeria syndromeORPHA:740weak
- Marfan syndromeOMIM:154700weak
- Turner syndromeORPHA:881weak
Hypercalciuria6
cf:hypercalciuria
- Williams syndromePMID:27574996weak
- Wilson diseaseOMIM:277900weak
- cystic fibrosisOMIM:219700weak
- multiple endocrine neoplasia type 1ORPHA:652weak
- multiple endocrine neoplasia type 2ORPHA:653weak
- sarcoidosisORPHA:797weak
Hyperpigmentation of the skin6
cf:hyperpigmentation_of_the_skin
- Addison diseasePMID:40982814weak
- X-linked adrenoleukodystrophyOMIM:300100weak
- hereditary hemochromatosisPMID:2986052weak
- neurofibromatosis type 2ORPHA:637weak
- primary biliary cholangitisPMID:41868880weak
- sarcoidosisORPHA:797weak
Hypertelorism6
cf:hypertelorism
- 22q11.2 deletion syndromeORPHA:567weak
- Diamond-Blackfan anemiaORPHA:124weak
- Fanconi anemiaORPHA:84weak
- Loeys-Dietz syndromePMID:41629640weak
- mucopolysaccharidosis type IOMIM:607014weak
- neurofibromatosis type 1OMIM:162200weak
Hyporeflexia6
cf:hyporeflexia
- Charcot-Marie-Tooth disease type 1APMID:15239197weak
- Duchenne muscular dystrophyOMIM:310200weak
- Krabbe diseaseORPHA:487weak
- Pompe diseaseOMIM:232300weak
- acid sphingomyelinase deficiencyOMIM:257200weak
- metachromatic leukodystrophyPMID:16291896weak
Impotence6
cf:impotence
- Lambert-Eaton myasthenic syndromePMID:40544116weak
- X-linked adrenoleukodystrophyORPHA:43weak
- acromegalyORPHA:963weak
- hereditary hemochromatosisPMID:41928889weak
- multiple endocrine neoplasia type 1ORPHA:652weak
- transthyretin amyloidosisORPHA:271861weak
Malar flattening6
cf:malar_flattening
- 22q11.2 deletion syndromeORPHA:567weak
- Hutchinson-Gilford progeria syndromeOMIM:176670weak
- Loeys-Dietz syndromeORPHA:60030weak
- Marfan syndromeOMIM:154700weak
- Williams syndromeOMIM:194050weak
- achondroplasiaOMIM:100800weak
Migraine6
cf:migraine
- Behçet diseaseORPHA:117weak
- IgA vasculitisORPHA:761weak
- Kawasaki diseaseORPHA:2331weak
- acromegalyORPHA:963weak
- hereditary hemorrhagic telangiectasiaORPHA:774weak
- narcolepsy type 1ORPHA:2073weak
Myocarditis6
cf:myocarditis
- Behçet diseaseORPHA:117weak
- Kawasaki diseaseORPHA:2331weak
- dermatomyositisORPHA:221weak
- eosinophilic granulomatosis with polyangiitisORPHA:183weak
- systemic sclerosisORPHA:90291weak
- von Hippel-Lindau diseaseORPHA:892weak
Myopathy6
cf:myopathy
- Leber hereditary optic neuropathyORPHA:104weak
- Usher syndromeORPHA:886weak
- Williams syndromeORPHA:904weak
- familial dilated cardiomyopathyORPHA:154weak
- hypertrophic cardiomyopathyOMIM:115197weak
- nephropathic cystinosisPMID:38380220weak
Myositis6
cf:myositis
- Behçet diseaseORPHA:117weak
- Sjogren syndromeORPHA:289390weak
- dermatomyositisORPHA:221weak
- eosinophilic granulomatosis with polyangiitisORPHA:183weak
- limb-girdle muscular dystrophyOMIM:253600weak
- myasthenia gravisORPHA:589weak
Neonatal onset6
cf:neonatal_onset
- Diamond-Blackfan anemiaOMIM:105650weak
- classic galactosemiaOMIM:230400weak
- epidermolysis bullosaPMID:38085193weak
- hereditary spherocytosisPMID:26009624weak
- hypertrophic cardiomyopathyOMIM:115197weak
- spinal muscular atrophyOMIM:253300weak
Osteopenia6
cf:osteopenia
- Gaucher diseasePMID:17414023weak
- Prader-Willi syndromeOMIM:176270weak
- Turner syndromeORPHA:881weak
- Williams syndromeORPHA:904weak
- osteogenesis imperfectaOMIM:166200weak
- primary sclerosing cholangitisORPHA:171weak
Palpitations6
cf:palpitations
- arrhythmogenic right ventricular cardiomyopathyOMIM:609040weak
- catecholaminergic polymorphic ventricular tachycardiaORPHA:3286weak
- hereditary pheochromocytoma-paragangliomaPMID:41083371weak
- idiopathic pulmonary arterial hypertensionPMID:17536115weak
- multiple endocrine neoplasia type 2ORPHA:653weak
- von Hippel-Lindau diseaseORPHA:892weak
Pectus excavatum6
cf:pectus_excavatum
- Loeys-Dietz syndromeORPHA:60030weak
- Marfan syndromeOMIM:154700weak
- Turner syndromeORPHA:881weak
- Williams syndromeORPHA:904weak
- facioscapulohumeral muscular dystrophyORPHA:269weak
- neurofibromatosis type 1OMIM:162200weak
Pruritus6
cf:pruritus
- dermatomyositisORPHA:221weak
- erythropoietic protoporphyriaPMID:33556208weak
- mast cell activation syndromePMID:42149735weak
- primary biliary cholangitisPMID:28238692weak
- primary sclerosing cholangitisPMID:41678299weak
- systemic sclerosisORPHA:90291weak
Pulmonary fibrosis6
cf:pulmonary_fibrosis
- Erdheim-Chester diseaseORPHA:35687weak
- dermatomyositisORPHA:221weak
- granulomatosis with polyangiitisORPHA:900weak
- idiopathic pulmonary fibrosisPMID:23734820weak
- sarcoidosisPMID:42202746weak
- systemic sclerosisPMID:9569077weak
Purpura6
cf:purpura
- 22q11.2 deletion syndromeORPHA:567weak
- IgA vasculitisORPHA:761weak
- Sjogren syndromeORPHA:289390weak
- eosinophilic granulomatosis with polyangiitisORPHA:183weak
- granulomatosis with polyangiitisORPHA:900weak
- hemophilia AOMIM:306700weak
Restrictive ventilatory defect6
cf:restrictive_ventilatory_defect
- Duchenne muscular dystrophyOMIM:310200weak
- IgA vasculitisORPHA:761weak
- achondroplasiaORPHA:15weak
- facioscapulohumeral muscular dystrophyORPHA:269weak
- granulomatosis with polyangiitisORPHA:900weak
- lymphangioleiomyomatosisORPHA:538weak
Retinopathy6
cf:retinopathy
- Behçet diseasePMID:38778397weak
- granulomatosis with polyangiitisORPHA:900weak
- mucopolysaccharidosis type IORPHA:579weak
- mucopolysaccharidosis type IIORPHA:580weak
- nephropathic cystinosisOMIM:219800weak
- sickle cell diseasePMID:42242558weak
Sleep apnea6
cf:sleep_apnea
- Friedreich ataxiaORPHA:95weak
- Prader-Willi syndromePMID:38934057weak
- acromegalyPMID:22309962weak
- amyotrophic lateral sclerosisOMIM:105400weak
- mucopolysaccharidosis type IIORPHA:580weak
- narcolepsy type 1ORPHA:2073weak
Subcutaneous nodule6
cf:subcutaneous_nodule
- Behçet diseaseORPHA:117weak
- eosinophilic granulomatosis with polyangiitisORPHA:183weak
- fibrodysplasia ossificans progressivaORPHA:337weak
- microscopic polyangiitisPMID:30404112weak
- polyarteritis nodosaPMID:31300830weak
- sarcoidosisORPHA:797weak
Sudden cardiac death6
cf:sudden_cardiac_death
- Williams syndromeORPHA:904weak
- arrhythmogenic right ventricular cardiomyopathyPMID:42244336weak
- catecholaminergic polymorphic ventricular tachycardiaPMID:38588993weak
- familial dilated cardiomyopathyPMID:16170685weak
- hypertrophic cardiomyopathyPMID:40993768weak
- long QT syndromePMID:16001778weak
Urinary incontinence6
cf:urinary_incontinence
- Krabbe diseaseORPHA:487weak
- Pompe diseaseOMIM:232300weak
- X-linked adrenoleukodystrophyOMIM:300100weak
- acute intermittent porphyriaORPHA:79276weak
- hereditary spastic paraplegiaOMIM:182601weak
- metachromatic leukodystrophyORPHA:512weak
Abnormal aortic valve morphology5
cf:abnormal_aortic_valve_morphology
- 22q11.2 deletion syndromeORPHA:567weak
- Erdheim-Chester diseaseORPHA:35687weak
- Fanconi anemiaORPHA:84weak
- Hutchinson-Gilford progeria syndromeORPHA:740weak
- mucopolysaccharidosis type IORPHA:579weak
Abnormal pyramidal sign5
cf:abnormal_pyramidal_sign
- Behçet diseasePMID:42223561weak
- Niemann-Pick disease type CORPHA:646weak
- multiple system atrophyORPHA:102weak
- spinocerebellar ataxia type 3PMID:40721863weak
- sporadic Creutzfeldt-Jakob diseasePMID:37152622weak
Abnormality of the eye5
cf:abnormality_of_the_eye
- Alport syndromeORPHA:63weak
- Fanconi anemiaORPHA:84weak
- neurofibromatosis type 2ORPHA:637weak
- polyarteritis nodosaORPHA:767weak
- von Hippel-Lindau diseaseORPHA:892weak
Acrocyanosis5
cf:acrocyanosis
- Friedreich ataxiaORPHA:95weak
- dermatomyositisORPHA:221weak
- eosinophilic granulomatosis with polyangiitisORPHA:183weak
- idiopathic pulmonary fibrosisORPHA:2032weak
- myasthenia gravisORPHA:589weak
Aortic aneurysm5
cf:aortic_aneurysm
- Alport syndromeORPHA:63weak
- Loeys-Dietz syndromePMID:40581620weak
- alkaptonuriaORPHA:56weak
- osteogenesis imperfectaOMIM:166200weak
- tuberous sclerosis complexORPHA:805weak
Aortic regurgitation5
cf:aortic_regurgitation
- Behçet diseasePMID:18603663weak
- Hutchinson-Gilford progeria syndromeORPHA:740weak
- Marfan syndromePMID:28600386weak
- Takayasu arteritisPMID:27420344weak
- mucopolysaccharidosis type IOMIM:607014weak
Aphasia5
cf:aphasia
- 22q11.2 deletion syndromeORPHA:567weak
- X-linked adrenoleukodystrophyORPHA:43weak
- hemiplegic migrainePMID:42178246weak
- neurofibromatosis type 2ORPHA:637weak
- progressive supranuclear palsyORPHA:683weak
Asthma5
cf:asthma
- 22q11.2 deletion syndromeORPHA:567weak
- Loeys-Dietz syndromeORPHA:60030weak
- cystic fibrosisOMIM:219700weak
- eosinophilic granulomatosis with polyangiitisPMID:31762336weak
- mucopolysaccharidosis type IIOMIM:309900weak
Autism5
cf:autism
- 22q11.2 deletion syndromePMID:42058778weak
- Fragile X syndromePMID:37420260weak
- Prader-Willi syndromeOMIM:176270weak
- Williams syndromeORPHA:904weak
- tuberous sclerosis complexPMID:41820375weak
Avascular necrosis5
cf:avascular_necrosis
- Behçet diseaseORPHA:117weak
- Erdheim-Chester diseaseORPHA:35687weak
- Gaucher diseasePMID:24090739weak
- Hutchinson-Gilford progeria syndromeORPHA:740weak
- mucopolysaccharidosis type IORPHA:579weak
Babinski sign5
cf:babinski_sign
- Friedreich ataxiaORPHA:95weak
- amyotrophic lateral sclerosisORPHA:803weak
- hereditary spastic paraplegiaOMIM:182601weak
- metachromatic leukodystrophyOMIM:250100weak
- sporadic Creutzfeldt-Jakob diseaseORPHA:204weak
Carious teeth5
cf:carious_teeth
- 22q11.2 deletion syndromeORPHA:567weak
- Prader-Willi syndromeOMIM:176270weak
- Usher syndromeORPHA:886weak
- Williams syndromeORPHA:904weak
- epidermolysis bullosaPMID:33849616weak
Celiac disease5
cf:celiac_disease
- Addison diseaseORPHA:85138weak
- Turner syndromePMID:16929365weak
- Williams syndromeOMIM:194050weak
- primary biliary cholangitisORPHA:186weak
- primary sclerosing cholangitisORPHA:171weak
Chorea5
cf:chorea
- Friedreich ataxiaORPHA:95weak
- Huntington diseasePMID:29996061weak
- Niemann-Pick disease type CORPHA:646weak
- Sjogren syndromeORPHA:289390weak
- metachromatic leukodystrophyOMIM:250100weak
Coarse facial features5
cf:coarse_facial_features
- Beckwith-Wiedemann syndromeOMIM:130650weak
- Williams syndromeORPHA:904weak
- acromegalyPMID:27743174weak
- mucopolysaccharidosis type IPMID:25599668weak
- mucopolysaccharidosis type IIPMID:41858182weak
Coma5
cf:coma
- Wilson diseaseOMIM:277900weak
- acute intermittent porphyriaORPHA:79276weak
- hemiplegic migrainePMID:32430436weak
- maple syrup urine diseasePMID:41013826weak
- multiple endocrine neoplasia type 1ORPHA:652weak
Confusion5
cf:confusion
- Behçet diseasePMID:42230434weak
- acute intermittent porphyriaORPHA:79276weak
- hemiplegic migrainePMID:32430436weak
- multiple endocrine neoplasia type 1ORPHA:652weak
- sporadic Creutzfeldt-Jakob diseaseORPHA:204weak
Constrictive median neuropathy5
cf:constrictive_median_neuropathy
- acromegalyPMID:42056759weak
- mucopolysaccharidosis type IOMIM:607014weak
- mucopolysaccharidosis type IIORPHA:580weak
- systemic sclerosisORPHA:90291weak
- transthyretin amyloidosisPMID:41721550weak
Decreased nerve conduction velocity5
cf:decreased_nerve_conduction_velocity
- Krabbe diseasePMID:16864819weak
- Wilson diseaseOMIM:277900weak
- chronic inflammatory demyelinating polyneuropathyPMID:41980868weak
- metachromatic leukodystrophyPMID:26245762weak
- mucopolysaccharidosis type IIORPHA:580weak
Dehydration5
cf:dehydration
- Addison diseasePMID:40982814weak
- congenital adrenal hyperplasiaORPHA:90794weak
- cystic fibrosisOMIM:219700weak
- multiple endocrine neoplasia type 1ORPHA:652weak
- nephropathic cystinosisORPHA:411629weak
Delayed puberty5
cf:delayed_puberty
- Addison diseaseORPHA:85138weak
- Prader-Willi syndromeOMIM:176270weak
- Turner syndromePMID:31213699weak
- classic galactosemiaORPHA:79239weak
- nephropathic cystinosisOMIM:219800weak
Delayed skeletal maturation5
cf:delayed_skeletal_maturation
- Silver-Russell syndromePMID:41918381weak
- Turner syndromeORPHA:881weak
- Williams syndromeORPHA:904weak
- fibrodysplasia ossificans progressivaORPHA:337weak
- nephropathic cystinosisOMIM:219800weak
Difficulty climbing stairs5
cf:difficulty_climbing_stairs
- Becker muscular dystrophyORPHA:98895weak
- Duchenne muscular dystrophyPMID:40822690weak
- Pompe diseaseOMIM:232300weak
- chronic inflammatory demyelinating polyneuropathyORPHA:2932weak
- myasthenia gravisORPHA:589weak
Dolichocephaly5
cf:dolichocephaly
- Fanconi anemiaORPHA:84weak
- Marfan syndromeOMIM:154700weak
- Prader-Willi syndromeOMIM:176270weak
- mucopolysaccharidosis type IORPHA:579weak
- mucopolysaccharidosis type IIOMIM:309900weak
Drooling5
cf:drooling
- 22q11.2 deletion syndromeOMIM:188400weak
- Angelman syndromeOMIM:105830weak
- Wilson diseaseOMIM:277900weak
- amyotrophic lateral sclerosisORPHA:803weak
- narcolepsy type 1ORPHA:2073weak
Elevated circulating C-reactive protein concentration5
cf:elevated_circulating_c_reactive_protein_
- Behçet diseasePMID:42023413weak
- Kawasaki diseaseORPHA:2331weak
- giant cell arteritisPMID:35919218weak
- granulomatosis with polyangiitisORPHA:900weak
- polyarteritis nodosaPMID:41957293weak
EMG abnormality5
cf:emg_abnormality
- Krabbe diseaseORPHA:487weak
- Usher syndromeORPHA:886weak
- dermatomyositisORPHA:221weak
- familial dilated cardiomyopathyORPHA:154weak
- stiff-person syndromePMID:40323494weak
Emotional lability5
cf:emotional_lability
- amyotrophic lateral sclerosisORPHA:803weak
- metachromatic leukodystrophyORPHA:512weak
- progressive supranuclear palsyORPHA:683weak
- sporadic Creutzfeldt-Jakob diseaseORPHA:204weak
- stiff-person syndromeORPHA:3198weak
Epicanthus5
cf:epicanthus
- 22q11.2 deletion syndromeORPHA:567weak
- Diamond-Blackfan anemiaORPHA:124weak
- Fanconi anemiaORPHA:84weak
- Turner syndromeORPHA:881weak
- Williams syndromeORPHA:904weak
Failure to thrive in infancy5
cf:failure_to_thrive_in_infancy
- Prader-Willi syndromePMID:26062517weak
- Turner syndromeORPHA:881weak
- Williams syndromeORPHA:904weak
- hypophosphatasiaORPHA:436weak
- nephropathic cystinosisOMIM:219800weak
Falls5
cf:falls
- Becker muscular dystrophyORPHA:98895weak
- Friedreich ataxiaORPHA:95weak
- chronic inflammatory demyelinating polyneuropathyORPHA:2932weak
- progressive supranuclear palsyPMID:38908985weak
- stiff-person syndromeORPHA:3198weak
Foot dorsiflexor weakness5
cf:foot_dorsiflexor_weakness
- Charcot-Marie-Tooth disease type 1APMID:41300731weak
- amyotrophic lateral sclerosisORPHA:803weak
- facioscapulohumeral muscular dystrophyPMID:40717734weak
- neurofibromatosis type 2ORPHA:637weak
- transthyretin amyloidosisORPHA:271861weak
Frequent falls5
cf:frequent_falls
- Krabbe diseaseORPHA:487weak
- Niemann-Pick disease type CORPHA:646weak
- facioscapulohumeral muscular dystrophyORPHA:269weak
- metachromatic leukodystrophyORPHA:512weak
- multiple system atrophyORPHA:102weak
Gangrene5
cf:gangrene
- Behçet diseaseORPHA:117weak
- dermatomyositisORPHA:221weak
- granulomatosis with polyangiitisORPHA:900weak
- microscopic polyangiitisPMID:17350793weak
- systemic sclerosisORPHA:90291weak
Glomerulopathy5
cf:glomerulopathy
- Behçet diseaseORPHA:117weak
- IgA vasculitisPMID:42050300weak
- eosinophilic granulomatosis with polyangiitisORPHA:183weak
- granulomatosis with polyangiitisORPHA:900weak
- microscopic polyangiitisPMID:10941351weak
Hallucinations5
cf:hallucinations
- Usher syndromeORPHA:886weak
- acute intermittent porphyriaORPHA:79276weak
- maple syrup urine diseaseOMIM:248600weak
- metachromatic leukodystrophyOMIM:250100weak
- narcolepsy type 1ORPHA:2073weak
Hemiparesis5
cf:hemiparesis
- 22q11.2 deletion syndromeOMIM:188400weak
- Behçet diseaseORPHA:117weak
- X-linked adrenoleukodystrophyORPHA:43weak
- hemiplegic migrainePMID:42178246weak
- neurofibromatosis type 2ORPHA:637weak
Hemiplegia/hemiparesis5
cf:hemiplegia_hemiparesis
- IgA vasculitisORPHA:761weak
- Krabbe diseaseORPHA:487weak
- eosinophilic granulomatosis with polyangiitisORPHA:183weak
- maple syrup urine diseaseORPHA:511weak
- mucopolysaccharidosis type IORPHA:579weak
Hepatitis5
cf:hepatitis
- Kawasaki diseaseORPHA:2331weak
- beta-thalassemiaORPHA:848weak
- myasthenia gravisORPHA:589weak
- primary biliary cholangitisORPHA:186weak
- primary sclerosing cholangitisORPHA:171weak
Hepatosplenomegaly5
cf:hepatosplenomegaly
- Niemann-Pick disease type CPMID:40814945weak
- cystic fibrosisOMIM:219700weak
- mucopolysaccharidosis type IPMID:25599668weak
- mucopolysaccharidosis type IIPMID:40102994weak
- primary sclerosing cholangitisORPHA:171weak
Hip dysplasia5
cf:hip_dysplasia
- Prader-Willi syndromeOMIM:176270weak
- Turner syndromeORPHA:881weak
- fibrodysplasia ossificans progressivaORPHA:337weak
- mucopolysaccharidosis type IIORPHA:580weak
- osteogenesis imperfectaOMIM:166200weak
Hyperactivity5
cf:hyperactivity
- Angelman syndromePMID:24876791weak
- X-linked adrenoleukodystrophyORPHA:43weak
- mucopolysaccharidosis type IIORPHA:580weak
- phenylketonuriaPMID:27805419weak
- tuberous sclerosis complexORPHA:805weak
Hypospadias5
cf:hypospadias
- 22q11.2 deletion syndromeORPHA:567weak
- Diamond-Blackfan anemiaORPHA:124weak
- Fanconi anemiaORPHA:84weak
- Silver-Russell syndromeOMIM:180860weak
- congenital adrenal hyperplasiaOMIM:201910weak
Hypothyroidism5
cf:hypothyroidism
- 22q11.2 deletion syndromeORPHA:567weak
- Williams syndromeORPHA:904weak
- alkaptonuriaORPHA:56weak
- sarcoidosisORPHA:797weak
- stiff-person syndromeORPHA:3198weak
Incoordination5
cf:incoordination
- Williams syndromeOMIM:194050weak
- Wilson diseaseOMIM:277900weak
- X-linked adrenoleukodystrophyORPHA:43weak
- classic galactosemiaORPHA:79239weak
- metachromatic leukodystrophyORPHA:512weak
Increased CSF protein concentration5
cf:increased_csf_protein_concentration
- Krabbe diseaseORPHA:487weak
- hemiplegic migrainePMID:32430436weak
- metachromatic leukodystrophyORPHA:512weak
- sarcoidosisORPHA:797weak
- sporadic Creutzfeldt-Jakob diseaseORPHA:204weak
Joint swelling5
cf:joint_swelling
- Erdheim-Chester diseaseORPHA:35687weak
- acromegalyORPHA:963weak
- alkaptonuriaORPHA:56weak
- sarcoidosisORPHA:797weak
- systemic sclerosisORPHA:90291weak
Keratoconjunctivitis sicca5
cf:keratoconjunctivitis_sicca
- Behçet diseaseORPHA:117weak
- Lambert-Eaton myasthenic syndromeORPHA:43393weak
- Sjogren syndromeORPHA:289390weak
- sarcoidosisORPHA:797weak
- transthyretin amyloidosisORPHA:271861weak
Malabsorption5
cf:malabsorption
- Behçet diseaseORPHA:117weak
- Williams syndromeORPHA:904weak
- eosinophilic granulomatosis with polyangiitisORPHA:183weak
- familial Mediterranean feverORPHA:342weak
- mucopolysaccharidosis type IORPHA:579weak
Male infertility5
cf:male_infertility
- Fanconi anemiaOMIM:227650weak
- classic galactosemiaORPHA:79239weak
- cystic fibrosisPMID:41898631weak
- nephropathic cystinosisPMID:40369127weak
- primary ciliary dyskinesiaPMID:41874199weak
Meningitis5
cf:meningitis
- Behçet diseasePMID:18603663weak
- Kawasaki diseaseORPHA:2331weak
- Sjogren syndromeORPHA:289390weak
- familial Mediterranean feverORPHA:342weak
- granulomatosis with polyangiitisORPHA:900weak
Microcephaly5
cf:microcephaly
- 22q11.2 deletion syndromeORPHA:567weak
- Diamond-Blackfan anemiaORPHA:124weak
- Fanconi anemiaPMID:29278735weak
- Williams syndromeORPHA:904weak
- phenylketonuriaPMID:35854334weak
Mild intellectual disability5
cf:mild_intellectual_disability
- 22q11.2 deletion syndromeORPHA:567weak
- Duchenne muscular dystrophyPMID:34727324weak
- classic galactosemiaORPHA:79239weak
- fibrodysplasia ossificans progressivaOMIM:135100weak
- neurofibromatosis type 1OMIM:162200weak
Mitral valve prolapse5
cf:mitral_valve_prolapse
- Fragile X syndromeORPHA:908weak
- Marfan syndromePMID:39366558weak
- Williams syndromeORPHA:904weak
- autosomal dominant polycystic kidney diseaseORPHA:730weak
- osteogenesis imperfectaOMIM:166200weak
Nephrocalcinosis5
cf:nephrocalcinosis
- Beckwith-Wiedemann syndromeOMIM:130650weak
- Williams syndromeORPHA:904weak
- X-linked hypophosphatemiaORPHA:89936weak
- familial Mediterranean feverORPHA:342weak
- sarcoidosisPMID:35761015weak
Neurodegeneration5
cf:neurodegeneration
- Krabbe diseasePMID:30777126weak
- X-linked adrenoleukodystrophyOMIM:300100weak
- amyotrophic lateral sclerosisPMID:30050368weak
- mucopolysaccharidosis type IOMIM:607014weak
- mucopolysaccharidosis type IIOMIM:309900weak
Papule5
cf:papule
- Behçet diseaseORPHA:117weak
- Hutchinson-Gilford progeria syndromeORPHA:740weak
- dermatomyositisORPHA:221weak
- eosinophilic granulomatosis with polyangiitisORPHA:183weak
- granulomatosis with polyangiitisORPHA:900weak
Pes cavus5
cf:pes_cavus
- Charcot-Marie-Tooth disease type 1APMID:41300731weak
- Friedreich ataxiaPMID:42117563weak
- Krabbe diseaseORPHA:487weak
- Marfan syndromeOMIM:154700weak
- mucopolysaccharidosis type IIOMIM:309900weak
Portal hypertension5
cf:portal_hypertension
- Williams syndromeOMIM:194050weak
- hereditary hemorrhagic telangiectasiaORPHA:774weak
- primary biliary cholangitisPMID:42023120weak
- primary sclerosing cholangitisPMID:41871593weak
- sarcoidosisORPHA:797weak
Proptosis5
cf:proptosis
- Beckwith-Wiedemann syndromeOMIM:130650weak
- Erdheim-Chester diseasePMID:39172709weak
- Fanconi anemiaORPHA:84weak
- granulomatosis with polyangiitisORPHA:900weak
- spinocerebellar ataxia type 3ORPHA:98757weak
Pulmonary arterial hypertension5
cf:pulmonary_arterial_hypertension
- Hutchinson-Gilford progeria syndromeORPHA:740weak
- dermatomyositisORPHA:221weak
- hereditary hemorrhagic telangiectasiaPMID:39588537weak
- idiopathic pulmonary arterial hypertensionPMID:41526595weak
- systemic sclerosisPMID:38531379weak
Pulmonary infiltrates5
cf:pulmonary_infiltrates
- Behçet diseasePMID:18603663weak
- Niemann-Pick disease type CORPHA:646weak
- eosinophilic granulomatosis with polyangiitisPMID:31958440weak
- granulomatosis with polyangiitisORPHA:900weak
- lymphangioleiomyomatosisORPHA:538weak
Rigidity5
cf:rigidity
- Wilson diseaseOMIM:277900weak
- acid sphingomyelinase deficiencyOMIM:257200weak
- multiple system atrophyORPHA:102weak
- progressive supranuclear palsyPMID:40384451weak
- stiff-person syndromePMID:15140273weak
Short neck5
cf:short_neck
- 22q11.2 deletion syndromeORPHA:567weak
- Diamond-Blackfan anemiaORPHA:124weak
- Turner syndromeORPHA:881weak
- mucopolysaccharidosis type IOMIM:607014weak
- mucopolysaccharidosis type IIOMIM:309900weak
Sinusitis5
cf:sinusitis
- Fragile X syndromeORPHA:908weak
- eosinophilic granulomatosis with polyangiitisPMID:31347324weak
- granulomatosis with polyangiitisPMID:41622276weak
- microscopic polyangiitisPMID:10941351weak
- mucopolysaccharidosis type IORPHA:579weak
Somatic sensory dysfunction5
cf:somatic_sensory_dysfunction
- Sjogren syndromeORPHA:289390weak
- X-linked adrenoleukodystrophyORPHA:43weak
- acute intermittent porphyriaORPHA:79276weak
- chronic inflammatory demyelinating polyneuropathyPMID:36182621weak
- neurofibromatosis type 2ORPHA:637weak
Transient ischemic attack5
cf:transient_ischemic_attack
- Fabry diseaseORPHA:324weak
- Hutchinson-Gilford progeria syndromeORPHA:740weak
- eosinophilic granulomatosis with polyangiitisORPHA:183weak
- hereditary hemorrhagic telangiectasiaPMID:39789946weak
- hypertrophic cardiomyopathyOMIM:115197weak
Umbilical hernia5
cf:umbilical_hernia
- 22q11.2 deletion syndromeORPHA:567weak
- Fanconi anemiaORPHA:84weak
- Williams syndromeORPHA:904weak
- mucopolysaccharidosis type IOMIM:607014weak
- mucopolysaccharidosis type IIORPHA:580weak
Ventricular septal defect5
cf:ventricular_septal_defect
- 22q11.2 deletion syndromeORPHA:567weak
- Diamond-Blackfan anemiaORPHA:124weak
- Williams syndromeORPHA:904weak
- neurofibromatosis type 1OMIM:162200weak
- spinal muscular atrophyOMIM:253300weak
Wide nasal bridge5
cf:wide_nasal_bridge
- 22q11.2 deletion syndromeORPHA:567weak
- Diamond-Blackfan anemiaORPHA:124weak
- Williams syndromeORPHA:904weak
- mucopolysaccharidosis type IOMIM:607014weak
- mucopolysaccharidosis type IIORPHA:580weak
Widely spaced teeth5
cf:widely_spaced_teeth
- Angelman syndromeOMIM:105830weak
- acromegalyORPHA:963weak
- fibrodysplasia ossificans progressivaOMIM:135100weak
- mucopolysaccharidosis type IORPHA:579weak
- mucopolysaccharidosis type IIOMIM:309900weak
X-linked recessive inheritance5
cf:x_linked_recessive_inheritance
- Duchenne muscular dystrophyPMID:41037163weak
- X-linked adrenoleukodystrophyPMID:41667276weak
- hemophilia AOMIM:306700weak
- hemophilia BPMID:42078236weak
- mucopolysaccharidosis type IIOMIM:309900weak
Abdominal distention4
cf:abdominal_distention
- Wilson diseaseOMIM:277900weak
- acute intermittent porphyriaORPHA:79276weak
- multiple endocrine neoplasia type 2ORPHA:653weak
- primary biliary cholangitisORPHA:186weak
Abnormal autonomic nervous system physiology4
cf:abnormal_autonomic_nervous_system_physio
- Lambert-Eaton myasthenic syndromePMID:24481713weak
- Rett syndromeORPHA:778weak
- multiple system atrophyPMID:24963676weak
- transthyretin amyloidosisORPHA:271861weak
Abnormal cardiovascular system morphology4
cf:abnormal_cardiovascular_system_morpholog
- 22q11.2 deletion syndromeORPHA:567weak
- Fanconi anemiaOMIM:227650weak
- polyarteritis nodosaORPHA:767weak
- primary ciliary dyskinesiaORPHA:244weak
Abnormal heart morphology4
cf:abnormal_heart_morphology
- Diamond-Blackfan anemiaPMID:23812780weak
- Fanconi anemiaOMIM:227650weak
- mucopolysaccharidosis type IIORPHA:580weak
- primary ciliary dyskinesiaORPHA:244weak
Abnormal heart valve morphology4
cf:abnormal_heart_valve_morphology
- Kawasaki diseaseORPHA:2331weak
- alkaptonuriaPMID:40938761weak
- mucopolysaccharidosis type IPMID:25345091weak
- mucopolysaccharidosis type IIPMID:41017152weak
Abnormal retinal vascular morphology4
cf:abnormal_retinal_vascular_morphology
- Sturge-Weber syndromeORPHA:3205weak
- facioscapulohumeral muscular dystrophyORPHA:269weak
- microscopic polyangiitisPMID:32078414weak
- retinitis pigmentosaORPHA:791weak
Abnormal speech pattern4
cf:abnormal_speech_pattern
- Fragile X syndromeORPHA:908weak
- Niemann-Pick disease type CORPHA:646weak
- Williams syndromeORPHA:904weak
- hemiplegic migrainePMID:32430436weak
Abnormality of extrapyramidal motor function4
cf:abnormality_of_extrapyramidal_motor_func
- Williams syndromeORPHA:904weak
- Wilson diseaseOMIM:277900weak
- spinocerebellar ataxia type 3ORPHA:98757weak
- sporadic Creutzfeldt-Jakob diseasePMID:36680361weak
Abnormality of the dentition4
cf:abnormality_of_the_dentition
- 22q11.2 deletion syndromeORPHA:567weak
- Turner syndromeORPHA:881weak
- acromegalyORPHA:963weak
- hypophosphatasiaPMID:38236379weak
Abnormality of the kidney4
cf:abnormality_of_the_kidney
- Sjogren syndromeORPHA:289390weak
- polyarteritis nodosaORPHA:767weak
- systemic sclerosisORPHA:90291weak
- tuberous sclerosis complexORPHA:805weak
Abnormality of vision4
cf:abnormality_of_vision
- Fanconi anemiaORPHA:84weak
- Sturge-Weber syndromeORPHA:3205weak
- X-linked adrenoleukodystrophyORPHA:43weak
- alkaptonuriaORPHA:56weak
Acne4
cf:acne
- 22q11.2 deletion syndromeORPHA:567weak
- Behçet diseaseORPHA:117weak
- acromegalyORPHA:963weak
- congenital adrenal hyperplasiaPMID:39774706weak
Adult onset4
cf:adult_onset
- alkaptonuriaOMIM:203500weak
- amyotrophic lateral sclerosisPMID:40283201weak
- hypertrophic cardiomyopathyOMIM:115197weak
- long QT syndromeOMIM:603830weak
Airway obstruction4
cf:airway_obstruction
- Sjogren syndromeORPHA:289390weak
- eosinophilic granulomatosis with polyangiitisORPHA:183weak
- mucopolysaccharidosis type IIOMIM:309900weak
- primary ciliary dyskinesiaORPHA:244weak
Aminoaciduria4
cf:aminoaciduria
- Wilson diseaseOMIM:277900weak
- alkaptonuriaORPHA:56weak
- classic galactosemiaOMIM:230400weak
- nephropathic cystinosisORPHA:411629weak
Anorexia4
cf:anorexia
- Addison diseasePMID:41419241weak
- Behçet diseaseORPHA:117weak
- IgA vasculitisORPHA:761weak
- multiple endocrine neoplasia type 1ORPHA:652weak
Areflexia4
cf:areflexia
- Charcot-Marie-Tooth disease type 1AOMIM:118220weak
- Pompe diseaseOMIM:232300weak
- chronic inflammatory demyelinating polyneuropathyPMID:16585914weak
- spinal muscular atrophyPMID:33329961weak
Asthenia4
cf:asthenia
- Addison diseasePMID:40982814weak
- acromegalyORPHA:963weak
- familial Mediterranean feverORPHA:342weak
- paroxysmal nocturnal hemoglobinuriaPMID:38084255weak
Biliary cirrhosis4
cf:biliary_cirrhosis
- Sjogren syndromeORPHA:289390weak
- Turner syndromeORPHA:881weak
- cystic fibrosisPMID:41809454weak
- primary biliary cholangitisPMID:39707635weak
Bone pain4
cf:bone_pain
- Erdheim-Chester diseasePMID:39172709weak
- Gaucher diseasePMID:17414023weak
- McCune-Albright syndromePMID:19308500weak
- X-linked hypophosphatemiaORPHA:89936weak
Bowel incontinence4
cf:bowel_incontinence
- 22q11.2 deletion syndromeORPHA:567weak
- X-linked adrenoleukodystrophyOMIM:300100weak
- metachromatic leukodystrophyORPHA:512weak
- systemic sclerosisPMID:36397401weak
Bradykinesia4
cf:bradykinesia
- Huntington diseasePMID:40461170weak
- Rett syndromeORPHA:778weak
- multiple system atrophyORPHA:102weak
- progressive supranuclear palsyPMID:38908985weak
Cerebral atrophy4
cf:cerebral_atrophy
- Niemann-Pick disease type CORPHA:646weak
- myotonic dystrophy type 1OMIM:160900weak
- nephropathic cystinosisOMIM:219800weak
- sporadic Creutzfeldt-Jakob diseaseORPHA:204weak
Cerebral ischemia4
cf:cerebral_ischemia
- Behçet diseasePMID:18603663weak
- Williams syndromeORPHA:904weak
- giant cell arteritisORPHA:397weak
- granulomatosis with polyangiitisORPHA:900weak
Chronic kidney disease4
cf:chronic_kidney_disease
- autosomal dominant polycystic kidney diseaseORPHA:730weak
- paroxysmal nocturnal hemoglobinuriaORPHA:447weak
- systemic sclerosisORPHA:90291weak
- tuberous sclerosis complexORPHA:805weak
Cleft palate4
cf:cleft_palate
- 22q11.2 deletion syndromePMID:40685150weak
- Diamond-Blackfan anemiaOMIM:105650weak
- Fanconi anemiaORPHA:84weak
- Loeys-Dietz syndromeORPHA:60030weak
Clinodactyly of the 5th finger4
cf:clinodactyly_of_the_5th_finger
- Fanconi anemiaORPHA:84weak
- Silver-Russell syndromePMID:21150838weak
- Williams syndromeORPHA:904weak
- fibrodysplasia ossificans progressivaOMIM:135100weak
Corneal opacity4
cf:corneal_opacity
- Hutchinson-Gilford progeria syndromeORPHA:740weak
- Williams syndromeORPHA:904weak
- mucopolysaccharidosis type IPMID:25599668weak
- mucopolysaccharidosis type IIORPHA:580weak
Cutis marmorata4
cf:cutis_marmorata
- Sjogren syndromeORPHA:289390weak
- eosinophilic granulomatosis with polyangiitisORPHA:183weak
- microscopic polyangiitisPMID:30404112weak
- polyarteritis nodosaORPHA:767weak
Decreased total leukocyte count4
cf:decreased_total_leukocyte_count
- Diamond-Blackfan anemiaORPHA:124weak
- Fanconi anemiaORPHA:84weak
- Sjogren syndromeORPHA:289390weak
- sarcoidosisORPHA:797weak
Depressed nasal bridge4
cf:depressed_nasal_bridge
- Diamond-Blackfan anemiaORPHA:124weak
- Williams syndromeOMIM:194050weak
- achondroplasiaPMID:41340868weak
- mucopolysaccharidosis type IORPHA:579weak
Downslanted palpebral fissures4
cf:downslanted_palpebral_fissures
- 22q11.2 deletion syndromeORPHA:567weak
- Diamond-Blackfan anemiaOMIM:105650weak
- Marfan syndromeOMIM:154700weak
- neurofibromatosis type 1OMIM:162200weak
Dry skin4
cf:dry_skin
- Addison diseaseORPHA:85138weak
- Sjogren syndromeORPHA:289390weak
- dermatomyositisORPHA:221weak
- phenylketonuriaOMIM:261600weak
EEG abnormality4
cf:eeg_abnormality
- Angelman syndromePMID:40179454weak
- Krabbe diseaseOMIM:245200weak
- Rett syndromePMID:34069993weak
- hemiplegic migrainePMID:32430436weak
Emphysema4
cf:emphysema
- Marfan syndromeOMIM:154700weak
- hypophosphatasiaORPHA:436weak
- lymphangioleiomyomatosisORPHA:538weak
- sarcoidosisORPHA:797weak
Floppy infant4
cf:floppy_infant
- Rett syndromeORPHA:778weak
- Usher syndromeORPHA:886weak
- achondroplasiaORPHA:15weak
- metachromatic leukodystrophyORPHA:512weak
Full cheeks4
cf:full_cheeks
- Williams syndromeOMIM:194050weak
- acromegalyORPHA:963weak
- mucopolysaccharidosis type IORPHA:579weak
- mucopolysaccharidosis type IIORPHA:580weak
Gingival overgrowth4
cf:gingival_overgrowth
- Sturge-Weber syndromeORPHA:3205weak
- Williams syndromeORPHA:904weak
- mucopolysaccharidosis type IORPHA:579weak
- mucopolysaccharidosis type IIORPHA:580weak
Growth abnormality4
cf:growth_abnormality
- alkaptonuriaOMIM:203500weak
- congenital adrenal hyperplasiaORPHA:90794weak
- maple syrup urine diseasePMID:28919799weak
- osteogenesis imperfectaPMID:41424307weak
Hearing abnormality4
cf:hearing_abnormality
- Fanconi anemiaORPHA:84weak
- Sturge-Weber syndromeORPHA:3205weak
- alkaptonuriaORPHA:56weak
- long QT syndromePMID:16001778weak
Hyperlordosis4
cf:hyperlordosis
- Duchenne muscular dystrophyOMIM:310200weak
- Williams syndromeORPHA:904weak
- facioscapulohumeral muscular dystrophyORPHA:269weak
- multiple endocrine neoplasia type 2ORPHA:653weak
Hyperthyroidism4
cf:hyperthyroidism
- 22q11.2 deletion syndromeORPHA:567weak
- McCune-Albright syndromePMID:18489744weak
- myasthenia gravisORPHA:589weak
- sarcoidosisORPHA:797weak
Hypoalbuminemia4
cf:hypoalbuminemia
- Kawasaki diseaseORPHA:2331weak
- Wilson diseaseOMIM:277900weak
- primary biliary cholangitisORPHA:186weak
- primary sclerosing cholangitisORPHA:171weak
Hypoesthesia4
cf:hypoesthesia
- Wilson diseaseOMIM:277900weak
- familial Mediterranean feverORPHA:342weak
- hereditary angioedemaOMIM:106100weak
- transthyretin amyloidosisORPHA:271861weak
Hypoglycemia4
cf:hypoglycemia
- Addison diseasePMID:40720873weak
- classic galactosemiaORPHA:79239weak
- congenital adrenal hyperplasiaOMIM:201910weak
- maple syrup urine diseasePMID:31302925weak
Hypohidrosis4
cf:hypohidrosis
- Fabry diseasePMID:41123702weak
- Lambert-Eaton myasthenic syndromePMID:24481713weak
- nephropathic cystinosisOMIM:219800weak
- systemic sclerosisORPHA:90291weak
Hyponatremia4
cf:hyponatremia
- Addison diseasePMID:40720873weak
- acute intermittent porphyriaPMID:27982422weak
- congenital adrenal hyperplasiaORPHA:90794weak
- nephropathic cystinosisOMIM:219800weak
Hypoparathyroidism4
cf:hypoparathyroidism
- 22q11.2 deletion syndromePMID:38308768weak
- Addison diseaseORPHA:85138weak
- Alport syndromeOMIM:301050weak
- Wilson diseaseOMIM:277900weak
Increased inflammatory response4
cf:increased_inflammatory_response
- Behçet diseasePMID:38778397weak
- eosinophilic granulomatosis with polyangiitisORPHA:183weak
- granulomatosis with polyangiitisORPHA:900weak
- microscopic polyangiitisPMID:39654049weak
Increased susceptibility to fractures4
cf:increased_susceptibility_to_fractures
- alkaptonuriaORPHA:56weak
- fibrodysplasia ossificans progressivaORPHA:337weak
- multiple endocrine neoplasia type 1ORPHA:652weak
- osteogenesis imperfectaPMID:41401950weak
Increased total leukocyte count4
cf:increased_total_leukocyte_count
- G6PD deficiencyOMIM:300908weak
- Kawasaki diseaseORPHA:2331weak
- familial Mediterranean feverORPHA:342weak
- sickle cell diseasePMID:41995143weak
Inguinal hernia4
cf:inguinal_hernia
- 22q11.2 deletion syndromeORPHA:567weak
- Williams syndromeORPHA:904weak
- mucopolysaccharidosis type IORPHA:579weak
- mucopolysaccharidosis type IIORPHA:580weak
Joint stiffness4
cf:joint_stiffness
- Hutchinson-Gilford progeria syndromePMID:21251803weak
- Williams syndromeORPHA:904weak
- alkaptonuriaORPHA:56weak
- mucopolysaccharidosis type IPMID:25345091weak
Kyphoscoliosis4
cf:kyphoscoliosis
- Charcot-Marie-Tooth disease type 1APMID:41300731weak
- Marfan syndromeOMIM:154700weak
- Williams syndromeOMIM:194050weak
- multiple endocrine neoplasia type 2ORPHA:653weak
Lethargy4
cf:lethargy
- Diamond-Blackfan anemiaORPHA:124weak
- classic galactosemiaORPHA:79239weak
- maple syrup urine diseasePMID:33748233weak
- multiple endocrine neoplasia type 1ORPHA:652weak
Limb muscle weakness4
cf:limb_muscle_weakness
- Charcot-Marie-Tooth disease type 1APMID:15239197weak
- Pompe diseasePMID:41719911weak
- Wilson diseaseOMIM:277900weak
- myasthenia gravisPMID:41928685weak
Limitation of joint mobility4
cf:limitation_of_joint_mobility
- Hutchinson-Gilford progeria syndromePMID:40644604weak
- X-linked hypophosphatemiaORPHA:89936weak
- fibrodysplasia ossificans progressivaPMID:37156007weak
- mucopolysaccharidosis type IIORPHA:580weak
Long face4
cf:long_face
- 22q11.2 deletion syndromeORPHA:567weak
- Fragile X syndromePMID:9678703weak
- Marfan syndromeOMIM:154700weak
- acromegalyORPHA:963weak
Loss of speech4
cf:loss_of_speech
- Niemann-Pick disease type COMIM:257220weak
- X-linked adrenoleukodystrophyOMIM:300100weak
- metachromatic leukodystrophyOMIM:250100weak
- sporadic Creutzfeldt-Jakob diseaseORPHA:204weak
Low-set ears4
cf:low_set_ears
- 22q11.2 deletion syndromeORPHA:567weak
- Diamond-Blackfan anemiaORPHA:124weak
- Turner syndromeORPHA:881weak
- neurofibromatosis type 1OMIM:162200weak
Lower limb muscle weakness4
cf:lower_limb_muscle_weakness
- X-linked adrenoleukodystrophyOMIM:300100weak
- amyotrophic lateral sclerosisORPHA:803weak
- hereditary spastic paraplegiaPMID:42116150weak
- limb-girdle muscular dystrophyPMID:41181282weak
Microcytic anemia4
cf:microcytic_anemia
- acid sphingomyelinase deficiencyOMIM:257200weak
- beta-thalassemiaORPHA:848weak
- erythropoietic protoporphyriaORPHA:79278weak
- von Willebrand diseaseORPHA:903weak
Midface retrusion4
cf:midface_retrusion
- Beckwith-Wiedemann syndromePMID:38707113weak
- Hutchinson-Gilford progeria syndromeOMIM:176670weak
- Williams syndromeOMIM:194050weak
- achondroplasiaPMID:39813116weak
Motor delay4
cf:motor_delay
- Angelman syndromeOMIM:105830weak
- Prader-Willi syndromeOMIM:176270weak
- Usher syndromeOMIM:276900weak
- achondroplasiaOMIM:100800weak
Multiple renal cysts4
cf:multiple_renal_cysts
- 22q11.2 deletion syndromeORPHA:567weak
- Williams syndromeORPHA:904weak
- lymphangioleiomyomatosisORPHA:538weak
- von Hippel-Lindau diseaseORPHA:892weak
Muscle spasm4
cf:muscle_spasm
- Becker muscular dystrophyPMID:41633644weak
- Friedreich ataxiaORPHA:95weak
- amyotrophic lateral sclerosisOMIM:105400weak
- metachromatic leukodystrophyORPHA:512weak
Myoclonus4
cf:myoclonus
- Krabbe diseaseORPHA:487weak
- Niemann-Pick disease type CORPHA:646weak
- sporadic Creutzfeldt-Jakob diseasePMID:36680361weak
- stiff-person syndromeORPHA:3198weak
Neurodevelopmental delay4
cf:neurodevelopmental_delay
- Diamond-Blackfan anemiaORPHA:124weak
- Sturge-Weber syndromeORPHA:3205weak
- Turner syndromeORPHA:881weak
- tuberous sclerosis complexORPHA:805weak
Obstructive sleep apnea4
cf:obstructive_sleep_apnea
- Duchenne muscular dystrophyPMID:28397169weak
- achondroplasiaPMID:39813116weak
- mucopolysaccharidosis type IIOMIM:309900weak
- myotonic dystrophy type 2ORPHA:606weak
Oligomenorrhea4
cf:oligomenorrhea
- Prader-Willi syndromeOMIM:176270weak
- acromegalyORPHA:963weak
- classic galactosemiaORPHA:79239weak
- congenital adrenal hyperplasiaORPHA:90794weak
Pain4
cf:pain
- amyotrophic lateral sclerosisORPHA:803weak
- metachromatic leukodystrophyORPHA:512weak
- systemic sclerosisORPHA:90291weak
- transthyretin amyloidosisORPHA:271861weak
Patent ductus arteriosus4
cf:patent_ductus_arteriosus
- 22q11.2 deletion syndromeORPHA:567weak
- Fanconi anemiaORPHA:84weak
- Loeys-Dietz syndromeORPHA:60030weak
- Williams syndromeORPHA:904weak
Periorbital edema4
cf:periorbital_edema
- Williams syndromeORPHA:904weak
- dermatomyositisORPHA:221weak
- granulomatosis with polyangiitisORPHA:900weak
- hereditary angioedemaOMIM:106100weak
Pheochromocytoma4
cf:pheochromocytoma
- multiple endocrine neoplasia type 1ORPHA:652weak
- multiple endocrine neoplasia type 2PMID:40102258weak
- neurofibromatosis type 1OMIM:162200weak
- tuberous sclerosis complexORPHA:805weak
Pleuritis4
cf:pleuritis
- Behçet diseasePMID:18603663weak
- familial Mediterranean feverPMID:42114813weak
- granulomatosis with polyangiitisORPHA:900weak
- polyarteritis nodosaORPHA:767weak
Polyhydramnios4
cf:polyhydramnios
- 22q11.2 deletion syndromeORPHA:567weak
- Prader-Willi syndromeOMIM:176270weak
- achondroplasiaOMIM:100800weak
- myotonic dystrophy type 1OMIM:160900weak
Posterior subcapsular cataract4
cf:posterior_subcapsular_cataract
- Alport syndromeORPHA:63weak
- myotonic dystrophy type 2ORPHA:606weak
- neurofibromatosis type 2PMID:28128429weak
- retinitis pigmentosaORPHA:791weak
Postural instability4
cf:postural_instability
- hemiplegic migrainePMID:32430436weak
- multiple system atrophyORPHA:102weak
- neurofibromatosis type 2ORPHA:637weak
- progressive supranuclear palsyPMID:38908985weak
Precocious puberty4
cf:precocious_puberty
- McCune-Albright syndromePMID:18489744weak
- Prader-Willi syndromeOMIM:176270weak
- Williams syndromeORPHA:904weak
- narcolepsy type 1ORPHA:2073weak
Primary adrenal insufficiency4
cf:primary_adrenal_insufficiency
- Addison diseasePMID:40720873weak
- X-linked adrenoleukodystrophyPMID:38034003weak
- congenital adrenal hyperplasiaPMID:37715965weak
- myasthenia gravisORPHA:589weak
Progressive neurologic deterioration4
cf:progressive_neurologic_deterioration
- Niemann-Pick disease type CORPHA:646weak
- mucopolysaccharidosis type IOMIM:607014weak
- mucopolysaccharidosis type IIORPHA:580weak
- nephropathic cystinosisOMIM:219800weak
Proximal muscle weakness4
cf:proximal_muscle_weakness
- Pompe diseasePMID:42135804weak
- dermatomyositisPMID:40770118weak
- myotonic dystrophy type 2PMID:40017289weak
- sarcoidosisORPHA:797weak
Pulmonary embolism4
cf:pulmonary_embolism
- Behçet diseasePMID:18603663weak
- Sturge-Weber syndromeORPHA:3205weak
- hereditary hemorrhagic telangiectasiaORPHA:774weak
- paroxysmal nocturnal hemoglobinuriaORPHA:447weak
Recurrent pneumonia4
cf:recurrent_pneumonia
- 22q11.2 deletion syndromePMID:40615621weak
- common variable immunodeficiencyPMID:42278892weak
- cystic fibrosisPMID:27143075weak
- mucopolysaccharidosis type IIOMIM:309900weak
Reduced visual acuity4
cf:reduced_visual_acuity
- Friedreich ataxiaORPHA:95weak
- nephropathic cystinosisOMIM:219800weak
- neurofibromatosis type 2PMID:40852360weak
- retinitis pigmentosaPMID:17113430weak
Respiratory distress4
cf:respiratory_distress
- achondroplasiaOMIM:100800weak
- hypertrophic cardiomyopathyOMIM:115197weak
- myotonic dystrophy type 1OMIM:160900weak
- tuberous sclerosis complexORPHA:805weak
Restless legs4
cf:restless_legs
- Friedreich ataxiaORPHA:95weak
- acromegalyORPHA:963weak
- myotonic dystrophy type 2ORPHA:606weak
- narcolepsy type 1ORPHA:2073weak
Retinal detachment4
cf:retinal_detachment
- Marfan syndromeOMIM:154700weak
- Sturge-Weber syndromeORPHA:3205weak
- facioscapulohumeral muscular dystrophyORPHA:269weak
- von Hippel-Lindau diseaseORPHA:892weak
Retrognathia4
cf:retrognathia
- Diamond-Blackfan anemiaOMIM:105650weak
- Hutchinson-Gilford progeria syndromeORPHA:740weak
- Marfan syndromeOMIM:154700weak
- Turner syndromeORPHA:881weak
Spinal canal stenosis4
cf:spinal_canal_stenosis
- X-linked hypophosphatemiaORPHA:89936weak
- achondroplasiaPMID:37674051weak
- acromegalyORPHA:963weak
- mucopolysaccharidosis type IORPHA:579weak
Stage 5 chronic kidney disease4
cf:stage_5_chronic_kidney_disease
- Alport syndromePMID:28864840weak
- autosomal dominant polycystic kidney diseaseORPHA:730weak
- nephropathic cystinosisPMID:40912033weak
- tuberous sclerosis complexORPHA:805weak
Tall stature4
cf:tall_stature
- Klinefelter syndromePMID:39932051well_established
- Loeys-Dietz syndromeORPHA:60030weak
- Marfan syndromePMID:36340521weak
- congenital adrenal hyperplasiaORPHA:90794weak
Thick vermilion border4
cf:thick_vermilion_border
- acromegalyORPHA:963weak
- mucopolysaccharidosis type IOMIM:607014weak
- mucopolysaccharidosis type IIORPHA:580weak
- multiple endocrine neoplasia type 2ORPHA:653weak
Thyroiditis4
cf:thyroiditis
- Sjogren syndromeORPHA:289390weak
- Turner syndromeORPHA:881weak
- autoimmune hepatitisORPHA:2137weak
- primary sclerosing cholangitisORPHA:171weak
Tinnitus4
cf:tinnitus
- Usher syndromeORPHA:886weak
- X-linked hypophosphatemiaORPHA:89936weak
- hemiplegic migrainePMID:42067833weak
- neurofibromatosis type 2PMID:32591014weak
Upper airway obstruction4
cf:upper_airway_obstruction
- Hutchinson-Gilford progeria syndromeORPHA:740weak
- achondroplasiaOMIM:100800weak
- mucopolysaccharidosis type IIORPHA:580weak
- sarcoidosisORPHA:797weak
Ventricular fibrillation4
cf:ventricular_fibrillation
- Brugada syndromePMID:41243368weak
- catecholaminergic polymorphic ventricular tachycardiaORPHA:3286weak
- hypertrophic cardiomyopathyOMIM:115197weak
- long QT syndromePMID:27826330weak
Ventricular tachycardia4
cf:ventricular_tachycardia
- arrhythmogenic right ventricular cardiomyopathyPMID:41995662weak
- catecholaminergic polymorphic ventricular tachycardiaORPHA:3286weak
- long QT syndromePMID:42134106weak
- sarcoidosisPMID:38923509weak
Visual field defect4
cf:visual_field_defect
- Sturge-Weber syndromeORPHA:3205weak
- Usher syndromePMID:37126974weak
- X-linked adrenoleukodystrophyORPHA:43weak
- acromegalyPMID:37097352weak
Vitiligo4
cf:vitiligo
- Addison diseaseORPHA:85138weak
- Sjogren syndromeORPHA:289390weak
- Turner syndromeORPHA:881weak
- autoimmune hepatitisORPHA:2137weak
Abnormal aortic morphology3
cf:abnormal_aortic_morphology
- Alport syndromeORPHA:63weak
- Fanconi anemiaORPHA:84weak
- mucopolysaccharidosis type IIORPHA:580weak
Abnormal cerebellum morphology3
cf:abnormal_cerebellum_morphology
- Erdheim-Chester diseasePMID:41728905weak
- Sjogren syndromeORPHA:289390weak
- neurofibromatosis type 2ORPHA:637weak
Abnormal cerebral vascular morphology3
cf:abnormal_cerebral_vascular_morphology
- Sturge-Weber syndromeORPHA:3205weak
- Williams syndromeORPHA:904weak
- hereditary hemorrhagic telangiectasiaORPHA:774weak
Abnormal cerebral white matter morphology3
cf:abnormal_cerebral_white_matter_morpholog
- X-linked adrenoleukodystrophyPMID:38034003weak
- metachromatic leukodystrophyPMID:18571943weak
- nephropathic cystinosisORPHA:411629weak
Abnormal circulating enzyme concentration or activity3
cf:abnormal_circulating_enzyme_concentratio
- acute intermittent porphyriaORPHA:79276weak
- classic galactosemiaORPHA:79239weak
- metachromatic leukodystrophyORPHA:512weak
Abnormal CNS myelination3
cf:abnormal_cns_myelination
- Niemann-Pick disease type CORPHA:646weak
- Pompe diseaseOMIM:232300weak
- mucopolysaccharidosis type IOMIM:607014weak
Abnormal dental enamel morphology3
cf:abnormal_dental_enamel_morphology
- 22q11.2 deletion syndromeORPHA:567weak
- Usher syndromeORPHA:886weak
- Williams syndromeORPHA:904weak
Abnormal electroretinogram3
cf:abnormal_electroretinogram
- Leber hereditary optic neuropathyPMID:15455797weak
- Usher syndromeORPHA:886weak
- retinitis pigmentosaPMID:17113430weak
Abnormal epiphysis morphology3
cf:abnormal_epiphysis_morphology
- Erdheim-Chester diseaseORPHA:35687weak
- X-linked hypophosphatemiaORPHA:89936weak
- mucopolysaccharidosis type IORPHA:579weak
Abnormal eyelid morphology3
cf:abnormal_eyelid_morphology
- 22q11.2 deletion syndromeORPHA:567weak
- Fanconi anemiaORPHA:84weak
- dermatomyositisORPHA:221weak
Abnormal lung morphology3
cf:abnormal_lung_morphology
- Niemann-Pick disease type CORPHA:646weak
- polyarteritis nodosaORPHA:767weak
- sarcoidosisORPHA:797weak
Abnormal metaphysis morphology3
cf:abnormal_metaphysis_morphology
- Erdheim-Chester diseasePMID:25744785weak
- hypophosphatasiaORPHA:436weak
- mucopolysaccharidosis type IORPHA:579weak
Abnormal mitral valve morphology3
cf:abnormal_mitral_valve_morphology
- Hutchinson-Gilford progeria syndromeORPHA:740weak
- mucopolysaccharidosis type IIORPHA:580weak
- von Willebrand diseaseORPHA:903weak
Abnormal nervous system morphology3
cf:abnormal_nervous_system_morphology
- Fanconi anemiaORPHA:84weak
- Williams syndromeORPHA:904weak
- stiff-person syndromeORPHA:3198weak
Abnormal retinal pigmentation3
cf:abnormal_retinal_pigmentation
- Usher syndromePMID:34331125weak
- mucopolysaccharidosis type IIORPHA:580weak
- retinitis pigmentosaORPHA:791weak
Abnormal skin morphology3
cf:abnormal_skin_morphology
- acute intermittent porphyriaORPHA:79276weak
- polyarteritis nodosaORPHA:767weak
- sarcoidosisORPHA:797weak
Abnormal skin pigmentation3
cf:abnormal_skin_pigmentation
- Fanconi anemiaPMID:38146508weak
- alkaptonuriaPMID:33746036weak
- lymphangioleiomyomatosisORPHA:538weak
Abnormal social behavior3
cf:abnormal_social_behavior
- Niemann-Pick disease type CORPHA:646weak
- Williams syndromePMID:25431039weak
- tuberous sclerosis complexORPHA:805weak
Abnormal thorax morphology3
cf:abnormal_thorax_morphology
- 22q11.2 deletion syndromeORPHA:567weak
- Hutchinson-Gilford progeria syndromeORPHA:740weak
- congenital adrenal hyperplasiaOMIM:201910weak
Abnormal thumb morphology3
cf:abnormal_thumb_morphology
- Fanconi anemiaORPHA:84weak
- Krabbe diseaseORPHA:487weak
- fibrodysplasia ossificans progressivaORPHA:337weak
Abnormality of the gastrointestinal tract3
cf:abnormality_of_the_gastrointestinal_trac
- polyarteritis nodosaORPHA:767weak
- sarcoidosisORPHA:797weak
- systemic sclerosisORPHA:90291weak
Abnormality of the nervous system3
cf:abnormality_of_the_nervous_system
- Sjogren syndromeORPHA:289390weak
- classic galactosemiaORPHA:79239weak
- polyarteritis nodosaORPHA:767weak
Abnormality of the voice3
cf:abnormality_of_the_voice
- Williams syndromeORPHA:904weak
- maple syrup urine diseaseORPHA:511weak
- mucopolysaccharidosis type IORPHA:579weak
Acute hepatic failure3
cf:acute_hepatic_failure
- Wilson diseaseOMIM:277900weak
- familial Mediterranean feverORPHA:342weak
- primary sclerosing cholangitisORPHA:171weak
Adrenal insufficiency3
cf:adrenal_insufficiency
- Prader-Willi syndromeOMIM:176270weak
- X-linked adrenoleukodystrophyORPHA:43weak
- acromegalyORPHA:963weak
Aganglionic megacolon3
cf:aganglionic_megacolon
- 22q11.2 deletion syndromeORPHA:567weak
- Fanconi anemiaORPHA:84weak
- multiple endocrine neoplasia type 2ORPHA:653weak
Albuminuria3
cf:albuminuria
- autosomal dominant polycystic kidney diseaseORPHA:730weak
- classic galactosemiaOMIM:230400weak
- systemic sclerosisORPHA:90291weak
Amblyopia3
cf:amblyopia
- 22q11.2 deletion syndromeOMIM:188400weak
- Williams syndromeOMIM:194050weak
- neurofibromatosis type 2ORPHA:637weak
Amyloid deposition3
cf:amyloid_deposition
- alkaptonuriaORPHA:56weak
- familial Mediterranean feverPMID:42250404weak
- primary sclerosing cholangitisORPHA:171weak
Angina pectoris3
cf:angina_pectoris
- Hutchinson-Gilford progeria syndromeOMIM:176670weak
- granulomatosis with polyangiitisORPHA:900weak
- hypertrophic cardiomyopathyOMIM:115195weak
Angioedema3
cf:angioedema
- IgA vasculitisORPHA:761weak
- hereditary angioedemaPMID:21262092weak
- mast cell activation syndromePMID:42149735weak
Anteverted nares3
cf:anteverted_nares
- Williams syndromeOMIM:194050weak
- achondroplasiaORPHA:15weak
- mucopolysaccharidosis type IOMIM:607014weak
Anti-myeloperoxidase antibody positivity3
cf:anti_myeloperoxidase_antibody_positivity
- eosinophilic granulomatosis with polyangiitisPMID:36184347weak
- granulomatosis with polyangiitisORPHA:900weak
- microscopic polyangiitisPMID:30404112weak
Anti-neutrophil elastase antibody positivity3
cf:anti_neutrophil_elastase_antibody_positi
- eosinophilic granulomatosis with polyangiitisORPHA:183weak
- granulomatosis with polyangiitisORPHA:900weak
- microscopic polyangiitisPMID:10941351weak
Anti-proteinase 3 antibody positivity3
cf:anti_proteinase_3_antibody_positivity
- eosinophilic granulomatosis with polyangiitisORPHA:183weak
- granulomatosis with polyangiitisPMID:40699500weak
- microscopic polyangiitisPMID:38211619weak
Antinuclear antibody positivity3
cf:antinuclear_antibody_positivity
- autoimmune hepatitisORPHA:2137weak
- primary biliary cholangitisPMID:40735894weak
- systemic sclerosisPMID:9569077weak
Aortic dissection3
cf:aortic_dissection
- Loeys-Dietz syndromeORPHA:60030weak
- Marfan syndromePMID:25405392weak
- Turner syndromePMID:24887949weak
Arachnodactyly3
cf:arachnodactyly
- 22q11.2 deletion syndromeORPHA:567weak
- Loeys-Dietz syndromeORPHA:60030weak
- Marfan syndromeOMIM:154700weak
Ascending tubular aorta aneurysm3
cf:ascending_tubular_aorta_aneurysm
- Fragile X syndromeORPHA:908weak
- Kawasaki diseaseORPHA:2331weak
- Marfan syndromeOMIM:154700weak
Astigmatism3
cf:astigmatism
- Fanconi anemiaORPHA:84weak
- Marfan syndromeOMIM:154700weak
- Usher syndromePMID:37466950weak
Atelectasis3
cf:atelectasis
- 22q11.2 deletion syndromeORPHA:567weak
- lymphangioleiomyomatosisORPHA:538weak
- primary ciliary dyskinesiaORPHA:244weak
Atrial fibrillation3
cf:atrial_fibrillation
- catecholaminergic polymorphic ventricular tachycardiaORPHA:3286weak
- hypertrophic cardiomyopathyPMID:41802491weak
- myotonic dystrophy type 1PMID:42202377weak
Autistic behavior3
cf:autistic_behavior
- Sturge-Weber syndromeORPHA:3205weak
- classic galactosemiaORPHA:79239weak
- tuberous sclerosis complexPMID:39891979weak
Azoospermia3
cf:azoospermia
- Fanconi anemiaORPHA:84weak
- Klinefelter syndromePMID:39932051well_established
- hereditary hemochromatosisOMIM:235200weak
Back pain3
cf:back_pain
- acute intermittent porphyriaORPHA:79276weak
- alkaptonuriaORPHA:56weak
- von Hippel-Lindau diseaseORPHA:892weak
Bicuspid aortic valve3
cf:bicuspid_aortic_valve
- Marfan syndromeOMIM:154700weak
- Turner syndromePMID:38748548weak
- Williams syndromeORPHA:904weak
Blue irides3
cf:blue_irides
- Angelman syndromeOMIM:105830weak
- Williams syndromeORPHA:904weak
- phenylketonuriaOMIM:261600weak
Blue sclerae3
cf:blue_sclerae
- Loeys-Dietz syndromeORPHA:60030weak
- Silver-Russell syndromeOMIM:180860weak
- osteogenesis imperfectaPMID:40047057weak
Breast carcinoma3
cf:breast_carcinoma
- Klinefelter syndromePMID:42299463weak
- dermatomyositisORPHA:221weak
- neurofibromatosis type 1OMIM:162200weak
Bulbar palsy3
cf:bulbar_palsy
- X-linked adrenoleukodystrophyOMIM:300100weak
- metachromatic leukodystrophyOMIM:250100weak
- myasthenia gravisORPHA:589weak
Cafe-au-lait spot3
cf:cafe_au_lait_spot
- Fanconi anemiaOMIM:227650weak
- Silver-Russell syndromeOMIM:180860weak
- neurofibromatosis type 2OMIM:101000weak
Cerebral calcification3
cf:cerebral_calcification
- Sturge-Weber syndromeORPHA:3205weak
- nephropathic cystinosisOMIM:219800weak
- phenylketonuriaOMIM:261600weak
Cholecystitis3
cf:cholecystitis
- Kawasaki diseaseORPHA:2331weak
- Rett syndromeORPHA:778weak
- metachromatic leukodystrophyOMIM:250100weak
Chronic pain3
cf:chronic_pain
- Fabry diseasePMID:41123702weak
- Sjogren syndromeORPHA:289390weak
- facioscapulohumeral muscular dystrophyPMID:41037169weak
Chronic pulmonary obstruction3
cf:chronic_pulmonary_obstruction
- 22q11.2 deletion syndromeORPHA:567weak
- alpha-1 antitrypsin deficiencyPMID:18565211weak
- granulomatosis with polyangiitisORPHA:900weak
Coarctation of aorta3
cf:coarctation_of_aorta
- Diamond-Blackfan anemiaORPHA:124weak
- Turner syndromePMID:38748548weak
- neurofibromatosis type 1OMIM:162200weak
Complete right bundle branch block3
cf:complete_right_bundle_branch_block
- Brugada syndromeORPHA:130weak
- facioscapulohumeral muscular dystrophyORPHA:269weak
- hypertrophic cardiomyopathyOMIM:115195weak
Compulsive behaviors3
cf:compulsive_behaviors
- Niemann-Pick disease type CORPHA:646weak
- Williams syndromeORPHA:904weak
- phenylketonuriaOMIM:261600weak
Conjunctivitis3
cf:conjunctivitis
- Kawasaki diseasePMID:41640915weak
- common variable immunodeficiencyOMIM:607594weak
- facioscapulohumeral muscular dystrophyORPHA:269weak
Craniosynostosis3
cf:craniosynostosis
- Loeys-Dietz syndromeORPHA:60030weak
- X-linked hypophosphatemiaPMID:40012305weak
- hypophosphatasiaPMID:37362163weak
Cutaneous photosensitivity3
cf:cutaneous_photosensitivity
- Prader-Willi syndromeOMIM:176270weak
- dermatomyositisORPHA:221weak
- erythropoietic protoporphyriaPMID:38890030weak
Cytoplasmic antineutrophil antibody positivity3
cf:cytoplasmic_antineutrophil_antibody_posi
- eosinophilic granulomatosis with polyangiitisORPHA:183weak
- granulomatosis with polyangiitisPMID:40699500weak
- microscopic polyangiitisPMID:10941351weak
Decreased circulating HDL-C concentration3
cf:decreased_circulating_hdl_c_concentratio
- Prader-Willi syndromeOMIM:176270weak
- acid sphingomyelinase deficiencyOMIM:607616weak
- acromegalyORPHA:963weak
Decreased fetal movement3
cf:decreased_fetal_movement
- Prader-Willi syndromeOMIM:176270weak
- myotonic dystrophy type 1OMIM:160900weak
- spinal muscular atrophyOMIM:253300weak
Decreased liver function3
cf:decreased_liver_function
- classic galactosemiaPMID:40513497weak
- erythropoietic protoporphyriaORPHA:79278weak
- sarcoidosisORPHA:797weak
Delayed ability to walk3
cf:delayed_ability_to_walk
- Angelman syndromeOMIM:105830weak
- Usher syndromeORPHA:886weak
- X-linked hypophosphatemiaORPHA:89936weak
Delayed gross motor development3
cf:delayed_gross_motor_development
- Duchenne muscular dystrophyPMID:41037163weak
- Fragile X syndromeORPHA:908weak
- Usher syndromeORPHA:886weak
Dental malocclusion3
cf:dental_malocclusion
- Sturge-Weber syndromeORPHA:3205weak
- Williams syndromeORPHA:904weak
- acromegalyORPHA:963weak
Diabetes insipidus3
cf:diabetes_insipidus
- Erdheim-Chester diseasePMID:32187362weak
- granulomatosis with polyangiitisORPHA:900weak
- sarcoidosisPMID:33329977weak
Dilated cardiomyopathy3
cf:dilated_cardiomyopathy
- Becker muscular dystrophyPMID:41224267weak
- Duchenne muscular dystrophyPMID:41391906weak
- familial dilated cardiomyopathyPMID:16170685weak
Disinhibition3
cf:disinhibition
- Niemann-Pick disease type CORPHA:646weak
- X-linked adrenoleukodystrophyORPHA:43weak
- hereditary spastic paraplegiaOMIM:182601weak
Dysuria3
cf:dysuria
- Erdheim-Chester diseaseORPHA:35687weak
- acromegalyORPHA:963weak
- acute intermittent porphyriaORPHA:79276weak
Eczematoid dermatitis3
cf:eczematoid_dermatitis
- Loeys-Dietz syndromeORPHA:60030weak
- erythropoietic protoporphyriaORPHA:79278weak
- phenylketonuriaOMIM:261600weak
Elevated circulating alanine aminotransferase concentration3
cf:elevated_circulating_alanine_aminotransf
- Wilson diseasePMID:40134168weak
- acid sphingomyelinase deficiencyOMIM:257200weak
- classic galactosemiaOMIM:230400weak
Elevated circulating alkaline phosphatase concentration3
cf:elevated_circulating_alkaline_phosphatas
- X-linked hypophosphatemiaORPHA:89936weak
- fibrodysplasia ossificans progressivaOMIM:135100weak
- primary biliary cholangitisPMID:39707635weak
Elevated circulating aspartate aminotransferase concentration3
cf:elevated_circulating_aspartate_aminotran
- Wilson diseasePMID:40134168weak
- acid sphingomyelinase deficiencyOMIM:257200weak
- classic galactosemiaOMIM:230400weak
Elevated circulating calcitonin concentration3
cf:elevated_circulating_calcitonin_concentr
- hereditary pheochromocytoma-paragangliomaORPHA:29072weak
- multiple endocrine neoplasia type 1ORPHA:652weak
- multiple endocrine neoplasia type 2ORPHA:653weak
Elevated circulating growth hormone concentration3
cf:elevated_circulating_growth_hormone_conc
- McCune-Albright syndromePMID:18489744weak
- acromegalyPMID:41205005weak
- multiple endocrine neoplasia type 1ORPHA:652weak
Elevated urinary epinephrine level3
cf:elevated_urinary_epinephrine_level
- congenital adrenal hyperplasiaORPHA:90794weak
- hereditary pheochromocytoma-paragangliomaORPHA:29072weak
- multiple endocrine neoplasia type 2ORPHA:653weak
Erythema nodosum3
cf:erythema_nodosum
- Behçet diseasePMID:22240504weak
- Sjogren syndromeORPHA:289390weak
- sarcoidosisORPHA:797weak
Esophageal varix3
cf:esophageal_varix
- Wilson diseaseOMIM:277900weak
- hereditary hemorrhagic telangiectasiaORPHA:774weak
- primary biliary cholangitisPMID:41201643weak
Esotropia3
cf:esotropia
- 22q11.2 deletion syndromeOMIM:188400weak
- Marfan syndromeOMIM:154700weak
- Prader-Willi syndromeOMIM:176270weak
Exercise intolerance3
cf:exercise_intolerance
- Becker muscular dystrophyORPHA:98895weak
- Pompe diseaseOMIM:232300weak
- idiopathic pulmonary fibrosisPMID:40719115weak
Exertional dyspnea3
cf:exertional_dyspnea
- Hutchinson-Gilford progeria syndromeORPHA:740weak
- familial dilated cardiomyopathyPMID:42386664weak
- idiopathic pulmonary fibrosisPMID:40719115weak
Exotropia3
cf:exotropia
- 22q11.2 deletion syndromeOMIM:188400weak
- Angelman syndromePMID:41905512weak
- Marfan syndromeOMIM:154700weak
Facial palsy3
cf:facial_palsy
- limb-girdle muscular dystrophyOMIM:253600weak
- neurofibromatosis type 2ORPHA:637weak
- sarcoidosisORPHA:797weak
First degree atrioventricular block3
cf:first_degree_atrioventricular_block
- Brugada syndromeORPHA:130weak
- hypertrophic cardiomyopathyOMIM:115197weak
- myotonic dystrophy type 1PMID:42202377weak
Gait ataxia3
cf:gait_ataxia
- Friedreich ataxiaPMID:38751907weak
- Niemann-Pick disease type CPMID:20525256weak
- multiple system atrophyORPHA:102weak
Gait imbalance3
cf:gait_imbalance
- Friedreich ataxiaORPHA:95weak
- Williams syndromeORPHA:904weak
- classic galactosemiaORPHA:79239weak
Gastrointestinal infarctions3
cf:gastrointestinal_infarctions
- IgA vasculitisORPHA:761weak
- familial Mediterranean feverORPHA:342weak
- microscopic polyangiitisPMID:40033657weak
Glucose intolerance3
cf:glucose_intolerance
- Turner syndromeORPHA:881weak
- Williams syndromeOMIM:194050weak
- hereditary hemochromatosisOMIM:235200weak
Glycosuria3
cf:glycosuria
- Wilson diseaseOMIM:277900weak
- myasthenia gravisORPHA:589weak
- nephropathic cystinosisORPHA:411629weak
Hashimoto thyroiditis3
cf:hashimoto_thyroiditis
- Addison diseaseORPHA:85138weak
- Turner syndromePMID:31580326weak
- myasthenia gravisORPHA:589weak
Hematemesis3
cf:hematemesis
- hemophilia AOMIM:306700weak
- hemophilia BOMIM:306900weak
- multiple endocrine neoplasia type 1ORPHA:652weak
Hepatic fibrosis3
cf:hepatic_fibrosis
- Turner syndromeORPHA:881weak
- primary biliary cholangitisORPHA:186weak
- primary sclerosing cholangitisPMID:41871593weak
Hepatic steatosis3
cf:hepatic_steatosis
- 22q11.2 deletion syndromeOMIM:188400weak
- Turner syndromePMID:37408200weak
- Wilson diseaseOMIM:277900weak
Hoarse voice3
cf:hoarse_voice
- Williams syndromeORPHA:904weak
- acromegalyORPHA:963weak
- mucopolysaccharidosis type IIORPHA:580weak
Horseshoe kidney3
cf:horseshoe_kidney
- Diamond-Blackfan anemiaORPHA:124weak
- Fanconi anemiaOMIM:227650weak
- Turner syndromePMID:37408200weak
Hydronephrosis3
cf:hydronephrosis
- 22q11.2 deletion syndromeOMIM:188400weak
- Erdheim-Chester diseaseORPHA:35687weak
- granulomatosis with polyangiitisORPHA:900weak
Hyperacusis3
cf:hyperacusis
- Usher syndromeORPHA:886weak
- Williams syndromeORPHA:904weak
- myasthenia gravisORPHA:589weak
Hypergonadotropic hypogonadism3
cf:hypergonadotropic_hypogonadism
- Fanconi anemiaOMIM:227650weak
- Klinefelter syndromePMID:39932051well_established
- classic galactosemiaOMIM:230400weak
Hyperinsulinemia3
cf:hyperinsulinemia
- Prader-Willi syndromeOMIM:176270weak
- Turner syndromeORPHA:881weak
- retinitis pigmentosaORPHA:791weak
Hypertonia3
cf:hypertonia
- Krabbe diseasePMID:40560063weak
- Tay-Sachs diseasePMID:38165373weak
- maple syrup urine diseasePMID:31302925weak
Hypertriglyceridemia3
cf:hypertriglyceridemia
- Prader-Willi syndromeOMIM:176270weak
- acid sphingomyelinase deficiencyOMIM:607616weak
- acromegalyORPHA:963weak
Hypogonadism3
cf:hypogonadism
- Fanconi anemiaORPHA:84weak
- X-linked adrenoleukodystrophyOMIM:300100weak
- myotonic dystrophy type 1PMID:41996006weak
Hypophosphatemia3
cf:hypophosphatemia
- McCune-Albright syndromePMID:27649526weak
- X-linked hypophosphatemiaORPHA:89936weak
- nephropathic cystinosisORPHA:411629weak
Hypopigmentation of the skin3
cf:hypopigmentation_of_the_skin
- Angelman syndromePMID:34203304weak
- nephropathic cystinosisOMIM:219800weak
- sarcoidosisORPHA:797weak
Hypopigmented skin patches3
cf:hypopigmented_skin_patches
- 22q11.2 deletion syndromeORPHA:567weak
- Fanconi anemiaORPHA:84weak
- eosinophilic granulomatosis with polyangiitisORPHA:183weak
Impulsivity3
cf:impulsivity
- mucopolysaccharidosis type IIORPHA:580weak
- progressive supranuclear palsyORPHA:683weak
- tuberous sclerosis complexORPHA:805weak
Inability to walk3
cf:inability_to_walk
- Friedreich ataxiaPMID:42291695weak
- Rett syndromeORPHA:778weak
- acid sphingomyelinase deficiencyOMIM:257200weak
Increased circulating ACTH level3
cf:increased_circulating_acth_level
- Addison diseasePMID:41048694weak
- X-linked adrenoleukodystrophyPMID:21399389weak
- congenital adrenal hyperplasiaORPHA:90794weak
Increased circulating lactate dehydrogenase concentration3
cf:increased_circulating_lactate_dehydrogen
- Pompe diseaseOMIM:232300weak
- dermatomyositisORPHA:221weak
- paroxysmal nocturnal hemoglobinuriaORPHA:447weak
Increased intracranial pressure3
cf:increased_intracranial_pressure
- Behçet diseasePMID:28388936weak
- X-linked adrenoleukodystrophyORPHA:43weak
- von Hippel-Lindau diseaseORPHA:892weak
Increased total eosinophil count3
cf:increased_total_eosinophil_count
- eosinophilic granulomatosis with polyangiitisPMID:31762336weak
- limb-girdle muscular dystrophyOMIM:253600weak
- sarcoidosisORPHA:797weak
Infertility3
cf:infertility
- Klinefelter syndromePMID:39156457weak
- Prader-Willi syndromeOMIM:176270weak
- acromegalyORPHA:963weak
Inflammation of the large intestine3
cf:inflammation_of_the_large_intestine
- Friedreich ataxiaORPHA:95weak
- Turner syndromeORPHA:881weak
- autoimmune hepatitisORPHA:2137weak
Insomnia3
cf:insomnia
- Williams syndromeORPHA:904weak
- Wilson diseaseOMIM:277900weak
- acute intermittent porphyriaORPHA:79276weak
Insulin resistance3
cf:insulin_resistance
- Hutchinson-Gilford progeria syndromeORPHA:740weak
- acromegalyORPHA:963weak
- myotonic dystrophy type 1PMID:41018201weak
Intestinal obstruction3
cf:intestinal_obstruction
- eosinophilic granulomatosis with polyangiitisORPHA:183weak
- familial Mediterranean feverORPHA:342weak
- granulomatosis with polyangiitisORPHA:900weak
Intracranial hemorrhage3
cf:intracranial_hemorrhage
- Hutchinson-Gilford progeria syndromeORPHA:740weak
- hemophilia APMID:42158717weak
- hemophilia BPMID:37864642weak
Involuntary movements3
cf:involuntary_movements
- Huntington diseasePMID:39825184weak
- Williams syndromeORPHA:904weak
- hemiplegic migrainePMID:42178246weak
Irregular hyperpigmentation3
cf:irregular_hyperpigmentation
- Fanconi anemiaORPHA:84weak
- alkaptonuriaORPHA:56weak
- systemic sclerosisORPHA:90291weak
Joint dislocation3
cf:joint_dislocation
- Loeys-Dietz syndromeORPHA:60030weak
- alkaptonuriaORPHA:56weak
- mucopolysaccharidosis type IORPHA:579weak
Joint hemorrhage3
cf:joint_hemorrhage
- hemophilia AOMIM:306700weak
- hemophilia BPMID:42158789weak
- von Willebrand diseaseORPHA:903weak
Language impairment3
cf:language_impairment
- Klinefelter syndromePMID:39932051well_established
- amyotrophic lateral sclerosisORPHA:803weak
- hemiplegic migrainePMID:32430436weak
Limb pain3
cf:limb_pain
- acute intermittent porphyriaORPHA:79276weak
- metachromatic leukodystrophyORPHA:512weak
- von Hippel-Lindau diseaseORPHA:892weak
Low back pain3
cf:low_back_pain
- alkaptonuriaPMID:33746036weak
- familial Mediterranean feverORPHA:342weak
- hereditary spastic paraplegiaOMIM:182601weak
Lymphedema3
cf:lymphedema
- Turner syndromePMID:42044425weak
- fibrodysplasia ossificans progressivaORPHA:337weak
- lymphangioleiomyomatosisORPHA:538weak
Macrotia3
cf:macrotia
- Fragile X syndromePMID:9678703weak
- Williams syndromeORPHA:904weak
- acromegalyORPHA:963weak
Malaise3
cf:malaise
- Addison diseaseORPHA:85138weak
- Wilson diseaseOMIM:277900weak
- giant cell arteritisORPHA:397weak
Mandibular prognathia3
cf:mandibular_prognathia
- Angelman syndromeOMIM:105830weak
- Fragile X syndromePMID:19560928weak
- acromegalyORPHA:963weak
Melena3
cf:melena
- hemophilia AOMIM:306700weak
- hemophilia BOMIM:306900weak
- multiple endocrine neoplasia type 1ORPHA:652weak
Meningioma3
cf:meningioma
- multiple endocrine neoplasia type 1ORPHA:652weak
- neurofibromatosis type 1OMIM:162200weak
- neurofibromatosis type 2PMID:26706012weak
Metaphyseal widening3
cf:metaphyseal_widening
- fibrodysplasia ossificans progressivaOMIM:135100weak
- mucopolysaccharidosis type IOMIM:607014weak
- nephropathic cystinosisOMIM:219800weak
Microdontia3
cf:microdontia
- Usher syndromeORPHA:886weak
- Williams syndromePMID:7937257weak
- mucopolysaccharidosis type IORPHA:579weak
Middle age onset3
cf:middle_age_onset
- G6PD deficiencyOMIM:300908weak
- acid sphingomyelinase deficiencyOMIM:607616weak
- hypertrophic cardiomyopathyOMIM:115195weak
Mitral stenosis3
cf:mitral_stenosis
- Hutchinson-Gilford progeria syndromeORPHA:740weak
- alkaptonuriaORPHA:56weak
- neurofibromatosis type 1OMIM:162200weak
Morphological central nervous system abnormality3
cf:morphological_central_nervous_system_abn
- Sjogren syndromeORPHA:289390weak
- polyarteritis nodosaORPHA:767weak
- primary ciliary dyskinesiaORPHA:244weak
Multiple mononeuropathy3
cf:multiple_mononeuropathy
- Sjogren syndromeORPHA:289390weak
- eosinophilic granulomatosis with polyangiitisPMID:35106968weak
- microscopic polyangiitisPMID:30404112weak
Narrow face3
cf:narrow_face
- Fragile X syndromeORPHA:908weak
- Marfan syndromeOMIM:154700weak
- Williams syndromeORPHA:904weak
Narrow mouth3
cf:narrow_mouth
- 22q11.2 deletion syndromeORPHA:567weak
- Hutchinson-Gilford progeria syndromeORPHA:740weak
- systemic sclerosisORPHA:90291weak
Nasal polyposis3
cf:nasal_polyposis
- cystic fibrosisOMIM:219700weak
- eosinophilic granulomatosis with polyangiitisPMID:42152982weak
- primary ciliary dyskinesiaORPHA:244weak
Nausea3
cf:nausea
- acute intermittent porphyriaOMIM:176000weak
- hereditary pheochromocytoma-paragangliomaORPHA:29072weak
- multiple endocrine neoplasia type 1ORPHA:652weak
Nephrotic syndrome3
cf:nephrotic_syndrome
- Alport syndromeORPHA:63weak
- familial Mediterranean feverORPHA:342weak
- transthyretin amyloidosisORPHA:271861weak
Neuronal loss in central nervous system3
cf:neuronal_loss_in_central_nervous_system
- Niemann-Pick disease type COMIM:257220weak
- progressive supranuclear palsyPMID:38908985weak
- sporadic Creutzfeldt-Jakob diseasePMID:8708680weak
Nonimmune hydrops fetalis3
cf:nonimmune_hydrops_fetalis
- Diamond-Blackfan anemiaORPHA:124weak
- Pompe diseaseOMIM:232300weak
- long QT syndromePMID:17588835weak
Orchitis3
cf:orchitis
- Behçet diseasePMID:22240504weak
- IgA vasculitisORPHA:761weak
- familial Mediterranean feverORPHA:342weak
Orthostatic hypotension due to autonomic dysfunction3
cf:orthostatic_hypotension_due_to_autonomic
- Lambert-Eaton myasthenic syndromePMID:24481713weak
- multiple system atrophyPMID:25977316weak
- transthyretin amyloidosisORPHA:271861weak
Osteolysis3
cf:osteolysis
- Erdheim-Chester diseaseORPHA:35687weak
- Hutchinson-Gilford progeria syndromeOMIM:176670weak
- multiple endocrine neoplasia type 1ORPHA:652weak
Pancreatic endocrine tumor3
cf:pancreatic_endocrine_tumor
- multiple endocrine neoplasia type 1ORPHA:652weak
- tuberous sclerosis complexORPHA:805weak
- von Hippel-Lindau diseaseORPHA:892weak
Paralysis3
cf:paralysis
- X-linked adrenoleukodystrophyORPHA:43weak
- acute intermittent porphyriaOMIM:176000weak
- amyotrophic lateral sclerosisPMID:41276866weak
Parathyroid adenoma3
cf:parathyroid_adenoma
- multiple endocrine neoplasia type 2PMID:29348307weak
- neurofibromatosis type 1OMIM:162200weak
- tuberous sclerosis complexORPHA:805weak
Parathyroid hyperplasia3
cf:parathyroid_hyperplasia
- multiple endocrine neoplasia type 1ORPHA:652weak
- multiple endocrine neoplasia type 2ORPHA:653weak
- tuberous sclerosis complexORPHA:805weak
Pectus carinatum3
cf:pectus_carinatum
- Loeys-Dietz syndromeORPHA:60030weak
- Marfan syndromePMID:24008997weak
- neurofibromatosis type 1OMIM:162200weak
Pedal edema3
cf:pedal_edema
- Wilson diseaseOMIM:277900weak
- familial Mediterranean feverORPHA:342weak
- idiopathic pulmonary arterial hypertensionORPHA:275766weak
Peripheral demyelination3
cf:peripheral_demyelination
- Krabbe diseasePMID:16864819weak
- chronic inflammatory demyelinating polyneuropathyPMID:38644208weak
- metachromatic leukodystrophyPMID:26000324weak
Peripheral visual field loss3
cf:peripheral_visual_field_loss
- Usher syndromePMID:37126974weak
- mucopolysaccharidosis type IIORPHA:580weak
- retinitis pigmentosaPMID:39930177weak
Personality changes3
cf:personality_changes
- Wilson diseaseOMIM:277900weak
- metachromatic leukodystrophyORPHA:512weak
- neurofibromatosis type 2OMIM:101000weak
Petechiae3
cf:petechiae
- hemophilia AOMIM:306700weak
- hemophilia BOMIM:306900weak
- von Willebrand diseaseORPHA:903weak
Photophobia3
cf:photophobia
- Behçet diseaseORPHA:117weak
- nephropathic cystinosisPMID:29594088weak
- retinitis pigmentosaORPHA:791weak
Pituitary adenoma3
cf:pituitary_adenoma
- McCune-Albright syndromeOMIM:174800weak
- multiple endocrine neoplasia type 1PMID:41834593weak
- tuberous sclerosis complexORPHA:805weak
Pituitary growth hormone cell adenoma3
cf:pituitary_growth_hormone_cell_adenoma
- acromegalyPMID:41205005weak
- autosomal dominant polycystic kidney diseaseORPHA:730weak
- multiple endocrine neoplasia type 1ORPHA:652weak
Pneumothorax3
cf:pneumothorax
- Marfan syndromeOMIM:154700weak
- lymphangioleiomyomatosisPMID:16707400weak
- sarcoidosisORPHA:797weak
Polyarticular arthritis3
cf:polyarticular_arthritis
- familial Mediterranean feverORPHA:342weak
- granulomatosis with polyangiitisORPHA:900weak
- polyarteritis nodosaORPHA:767weak
Polyneuropathy3
cf:polyneuropathy
- Wilson diseaseOMIM:277900weak
- X-linked adrenoleukodystrophyPMID:34560537weak
- neurofibromatosis type 2ORPHA:637weak
Poor head control3
cf:poor_head_control
- Krabbe diseaseORPHA:487weak
- Tay-Sachs diseaseOMIM:272800weak
- spinal muscular atrophyOMIM:253300weak
Postural tremor3
cf:postural_tremor
- Leber hereditary optic neuropathyORPHA:104weak
- classic galactosemiaORPHA:79239weak
- multiple system atrophyORPHA:102weak
Premature ovarian insufficiency3
cf:premature_ovarian_insufficiency
- Addison diseaseORPHA:85138weak
- Turner syndromePMID:33381083weak
- classic galactosemiaPMID:42226209weak
Primary amenorrhea3
cf:primary_amenorrhea
- Prader-Willi syndromeOMIM:176270weak
- Turner syndromeORPHA:881weak
- classic galactosemiaORPHA:79239weak
Progressive3
cf:progressive
- Alport syndromeOMIM:301050weak
- X-linked adrenoleukodystrophyOMIM:300100weak
- hereditary spastic paraplegiaOMIM:182601weak
Progressive gait ataxia3
cf:progressive_gait_ataxia
- Angelman syndromeOMIM:105830weak
- Niemann-Pick disease type CORPHA:646weak
- hemiplegic migrainePMID:32430436weak
Prolonged neonatal jaundice3
cf:prolonged_neonatal_jaundice
- G6PD deficiencyOMIM:300908weak
- Niemann-Pick disease type CPMID:39697013weak
- acid sphingomyelinase deficiencyOMIM:257200weak
Prolonged partial thromboplastin time3
cf:prolonged_partial_thromboplastin_time
- hemophilia AOMIM:306700weak
- hemophilia BPMID:41967712weak
- von Willebrand diseaseORPHA:903weak
Protuberant abdomen3
cf:protuberant_abdomen
- acid sphingomyelinase deficiencyOMIM:257200weak
- facioscapulohumeral muscular dystrophyORPHA:269weak
- mucopolysaccharidosis type IOMIM:607014weak
Proximal amyotrophy3
cf:proximal_amyotrophy
- limb-girdle muscular dystrophyPMID:41037170weak
- multiple endocrine neoplasia type 2ORPHA:653weak
- spinal muscular atrophyPMID:42116195weak
Recurrent fever3
cf:recurrent_fever
- Behçet diseaseORPHA:117weak
- Krabbe diseaseOMIM:245200weak
- congenital adrenal hyperplasiaOMIM:201910weak
Recurrent fractures3
cf:recurrent_fractures
- Gaucher diseasePMID:31233632weak
- hypophosphatasiaPMID:38236379weak
- osteogenesis imperfectaPMID:41401950weak
Recurrent urinary tract infections3
cf:recurrent_urinary_tract_infections
- Fanconi anemiaORPHA:84weak
- Williams syndromeORPHA:904weak
- autosomal dominant polycystic kidney diseaseORPHA:730weak
Renal cell carcinoma3
cf:renal_cell_carcinoma
- hereditary pheochromocytoma-paragangliomaORPHA:29072weak
- tuberous sclerosis complexORPHA:805weak
- von Hippel-Lindau diseasePMID:42313274weak
Renal hypoplasia3
cf:renal_hypoplasia
- 22q11.2 deletion syndromeORPHA:567weak
- Diamond-Blackfan anemiaOMIM:105650weak
- Williams syndromeORPHA:904weak
Respiratory insufficiency due to muscle weakness3
cf:respiratory_insufficiency_due_to_muscle_
- Duchenne muscular dystrophyPMID:28397169weak
- Pompe diseasePMID:41719911weak
- dermatomyositisORPHA:221weak
Reticulocytosis3
cf:reticulocytosis
- G6PD deficiencyPMID:36678214weak
- hereditary spherocytosisPMID:38319988weak
- paroxysmal nocturnal hemoglobinuriaORPHA:447weak
Retinal degeneration3
cf:retinal_degeneration
- mucopolysaccharidosis type IOMIM:607014weak
- mucopolysaccharidosis type IIORPHA:580weak
- retinitis pigmentosaPMID:39930177weak
Retinal hamartoma3
cf:retinal_hamartoma
- lymphangioleiomyomatosisORPHA:538weak
- neurofibromatosis type 2PMID:27409481weak
- tuberous sclerosis complexORPHA:805weak
Schizophrenia3
cf:schizophrenia
- 22q11.2 deletion syndromePMID:40223294weak
- Niemann-Pick disease type CORPHA:646weak
- metachromatic leukodystrophyORPHA:512weak
Secondary amenorrhea3
cf:secondary_amenorrhea
- Turner syndromeORPHA:881weak
- acromegalyORPHA:963weak
- classic galactosemiaORPHA:79239weak
Self-injurious behavior3
cf:self_injurious_behavior
- Fragile X syndromeORPHA:908weak
- Prader-Willi syndromePMID:28984907weak
- tuberous sclerosis complexORPHA:805weak
Sensorimotor neuropathy3
cf:sensorimotor_neuropathy
- Krabbe diseasePMID:40560063weak
- Sjogren syndromeORPHA:289390weak
- transthyretin amyloidosisPMID:41640232weak
Sensory neuropathy3
cf:sensory_neuropathy
- Krabbe diseaseORPHA:487weak
- granulomatosis with polyangiitisORPHA:900weak
- neurofibromatosis type 2ORPHA:637weak
Sinus tachycardia3
cf:sinus_tachycardia
- Pompe diseaseOMIM:232300weak
- dermatomyositisORPHA:221weak
- hereditary pheochromocytoma-paragangliomaORPHA:29072weak
Small for gestational age3
cf:small_for_gestational_age
- Diamond-Blackfan anemiaORPHA:124weak
- Fanconi anemiaOMIM:227650weak
- Silver-Russell syndromePMID:41918381weak
Spina bifida3
cf:spina_bifida
- 22q11.2 deletion syndromeORPHA:567weak
- Fanconi anemiaORPHA:84weak
- neurofibromatosis type 1OMIM:162200weak
Split hand3
cf:split_hand
- Charcot-Marie-Tooth disease type 1AOMIM:118220weak
- mucopolysaccharidosis type IORPHA:579weak
- mucopolysaccharidosis type IIOMIM:309900weak
Sporadic3
cf:sporadic
- Angelman syndromeOMIM:105830weak
- Prader-Willi syndromeOMIM:176270weak
- Silver-Russell syndromePMID:40491736weak
Status epilepticus3
cf:status_epilepticus
- Niemann-Pick disease type CORPHA:646weak
- hemiplegic migrainePMID:41405460weak
- tuberous sclerosis complexORPHA:805weak
Steppage gait3
cf:steppage_gait
- Charcot-Marie-Tooth disease type 1AOMIM:118220weak
- amyotrophic lateral sclerosisORPHA:803weak
- facioscapulohumeral muscular dystrophyORPHA:269weak
Syndactyly3
cf:syndactyly
- Prader-Willi syndromeOMIM:176270weak
- Silver-Russell syndromeOMIM:180860weak
- epidermolysis bullosaPMID:33849616weak
Tachycardia3
cf:tachycardia
- Addison diseasePMID:40720873weak
- Brugada syndromeORPHA:130weak
- acute intermittent porphyriaPMID:9638723weak
Talipes equinovarus3
cf:talipes_equinovarus
- 22q11.2 deletion syndromeORPHA:567weak
- Friedreich ataxiaORPHA:95weak
- Loeys-Dietz syndromeORPHA:60030weak
Telangiectasia3
cf:telangiectasia
- hereditary hemochromatosisOMIM:235200weak
- hereditary hemorrhagic telangiectasiaPMID:41862858weak
- systemic sclerosisORPHA:90291weak
Tetralogy of Fallot3
cf:tetralogy_of_fallot
- 22q11.2 deletion syndromePMID:40038168weak
- Fanconi anemiaORPHA:84weak
- Williams syndromeORPHA:904weak
Thick lower lip vermilion3
cf:thick_lower_lip_vermilion
- Williams syndromeORPHA:904weak
- mucopolysaccharidosis type IORPHA:579weak
- mucopolysaccharidosis type IIOMIM:309900weak
Thymoma3
cf:thymoma
- Addison diseaseORPHA:85138weak
- multiple endocrine neoplasia type 1ORPHA:652weak
- myasthenia gravisPMID:40248578weak
Tip-toe gait3
cf:tip_toe_gait
- Becker muscular dystrophyORPHA:98895weak
- Duchenne muscular dystrophyOMIM:310200weak
- metachromatic leukodystrophyORPHA:512weak
Tongue fasciculations3
cf:tongue_fasciculations
- amyotrophic lateral sclerosisORPHA:803weak
- hemiplegic migraineORPHA:569weak
- spinal muscular atrophyOMIM:253300weak
Tubulointerstitial nephritis3
cf:tubulointerstitial_nephritis
- Sjogren syndromeORPHA:289390weak
- eosinophilic granulomatosis with polyangiitisORPHA:183weak
- sarcoidosisORPHA:797weak
Unsteady gait3
cf:unsteady_gait
- chronic inflammatory demyelinating polyneuropathyORPHA:2932weak
- neurofibromatosis type 2ORPHA:637weak
- progressive supranuclear palsyPMID:39634776weak
Upslanted palpebral fissure3
cf:upslanted_palpebral_fissure
- 22q11.2 deletion syndromeORPHA:567weak
- Fanconi anemiaORPHA:84weak
- Prader-Willi syndromeOMIM:176270weak
Urinary bladder sphincter dysfunction3
cf:urinary_bladder_sphincter_dysfunction
- Friedreich ataxiaORPHA:95weak
- X-linked adrenoleukodystrophyPMID:39020416weak
- hereditary spastic paraplegiaPMID:41507865weak
Urticaria3
cf:urticaria
- IgA vasculitisORPHA:761weak
- eosinophilic granulomatosis with polyangiitisORPHA:183weak
- mast cell activation syndromePMID:42149735weak
Uveitis3
cf:uveitis
- microscopic polyangiitisPMID:32078414weak
- primary sclerosing cholangitisORPHA:171weak
- sarcoidosisPMID:33807303weak
Ventriculomegaly3
cf:ventriculomegaly
- Fanconi anemiaORPHA:84weak
- Prader-Willi syndromeOMIM:176270weak
- primary ciliary dyskinesiaORPHA:244weak
Vesicoureteral reflux3
cf:vesicoureteral_reflux
- 22q11.2 deletion syndromeORPHA:567weak
- Beckwith-Wiedemann syndromeOMIM:130650weak
- Williams syndromePMID:27139901weak
Vocal cord paralysis3
cf:vocal_cord_paralysis
- Williams syndromeOMIM:194050weak
- hereditary pheochromocytoma-paragangliomaORPHA:29072weak
- spinocerebellar ataxia type 3ORPHA:98757weak
Weakness of facial musculature3
cf:weakness_of_facial_musculature
- facioscapulohumeral muscular dystrophyPMID:41916879weak
- myasthenia gravisPMID:41573440weak
- myotonic dystrophy type 2ORPHA:606weak
Webbed neck3
cf:webbed_neck
- Diamond-Blackfan anemiaORPHA:124weak
- Turner syndromeORPHA:881weak
- neurofibromatosis type 1OMIM:162200weak
Xanthelasma3
cf:xanthelasma
- Erdheim-Chester diseasePMID:39172709weak
- familial hypercholesterolemiaOMIM:143890weak
- primary biliary cholangitisPMID:41868880weak
Xerostomia3
cf:xerostomia
- Lambert-Eaton myasthenic syndromePMID:24481713weak
- Sjogren syndromeORPHA:289390weak
- amyotrophic lateral sclerosisORPHA:803weak
Abnormal blistering of the skin2
cf:abnormal_blistering_of_the_skin
- Behçet diseasePMID:27075942weak
- epidermolysis bullosaPMID:32973163weak
Abnormal cardiac septum morphology2
cf:abnormal_cardiac_septum_morphology
- Fanconi anemiaORPHA:84weak
- Williams syndromeORPHA:904weak
Abnormal cardiovascular system physiology2
cf:abnormal_cardiovascular_system_physiolog
- Usher syndromeORPHA:886weak
- hereditary hemorrhagic telangiectasiaORPHA:774weak
Abnormal carotid artery morphology2
cf:abnormal_carotid_artery_morphology
- Fanconi anemiaORPHA:84weak
- Williams syndromeORPHA:904weak
Abnormal circulating aldosterone concentration2
cf:abnormal_circulating_aldosterone_concent
- McCune-Albright syndromeOMIM:174800weak
- multiple endocrine neoplasia type 1ORPHA:652weak
Abnormal circulating lipid concentration2
cf:abnormal_circulating_lipid_concentration
- Williams syndromeORPHA:904weak
- primary biliary cholangitisORPHA:186weak
Abnormal dermatoglyphics2
cf:abnormal_dermatoglyphics
- Turner syndromeORPHA:881weak
- Williams syndromeORPHA:904weak
Abnormal EKG2
cf:abnormal_ekg
- Duchenne muscular dystrophyOMIM:310200weak
- Friedreich ataxiaORPHA:95weak
Abnormal eosinophil morphology2
cf:abnormal_eosinophil_morphology
- dermatomyositisORPHA:221weak
- primary sclerosing cholangitisORPHA:171weak
Abnormal facial shape2
cf:abnormal_facial_shape
- 22q11.2 deletion syndromePMID:41379155weak
- Turner syndromeORPHA:881weak
Abnormal fingernail morphology2
cf:abnormal_fingernail_morphology
- Turner syndromeORPHA:881weak
- Williams syndromeORPHA:904weak
Abnormal foot morphology2
cf:abnormal_foot_morphology
- Fanconi anemiaORPHA:84weak
- Friedreich ataxiaORPHA:95weak
Abnormal full-field electroretinogram2
cf:abnormal_full_field_electroretinogram
- mucopolysaccharidosis type IIORPHA:580weak
- retinitis pigmentosaORPHA:791weak
Abnormal nail morphology2
cf:abnormal_nail_morphology
- alkaptonuriaORPHA:56weak
- dermatomyositisPMID:42220959weak
Abnormal pericardium morphology2
cf:abnormal_pericardium_morphology
- Erdheim-Chester diseasePMID:32187362weak
- eosinophilic granulomatosis with polyangiitisORPHA:183weak
Abnormal pinna morphology2
cf:abnormal_pinna_morphology
- Fanconi anemiaORPHA:84weak
- Turner syndromeORPHA:881weak
Abnormal pleura morphology2
cf:abnormal_pleura_morphology
- eosinophilic granulomatosis with polyangiitisORPHA:183weak
- sarcoidosisORPHA:797weak
Abnormal pulmonary valve morphology2
cf:abnormal_pulmonary_valve_morphology
- 22q11.2 deletion syndromeORPHA:567weak
- mucopolysaccharidosis type IIORPHA:580weak
Abnormal rapid eye movement sleep2
cf:abnormal_rapid_eye_movement_sleep
- multiple system atrophyPMID:32925365weak
- narcolepsy type 1ORPHA:2073weak
Abnormal renal morphology2
cf:abnormal_renal_morphology
- Fanconi anemiaORPHA:84weak
- Williams syndromeOMIM:194050weak
Abnormal skull morphology2
cf:abnormal_skull_morphology
- 22q11.2 deletion syndromeORPHA:567weak
- beta-thalassemiaORPHA:848weak
Abnormal stomach morphology2
cf:abnormal_stomach_morphology
- metachromatic leukodystrophyORPHA:512weak
- systemic sclerosisORPHA:90291weak
Abnormal T cell physiology2
cf:abnormal_t_cell_physiology
- 22q11.2 deletion syndromeORPHA:567weak
- common variable immunodeficiencyOMIM:607594weak
Abnormal thymus morphology2
cf:abnormal_thymus_morphology
- 22q11.2 deletion syndromePMID:40038168weak
- myasthenia gravisPMID:40248578weak
Abnormal tubulointerstitial morphology2
cf:abnormal_tubulointerstitial_morphology
- Williams syndromeORPHA:904weak
- nephropathic cystinosisORPHA:411629weak
Abnormal urinary color2
cf:abnormal_urinary_color
- Becker muscular dystrophyORPHA:98895weak
- lymphangioleiomyomatosisORPHA:538weak
Abnormal vertebral body morphology2
cf:abnormal_vertebral_body_morphology
- Williams syndromeORPHA:904weak
- mucopolysaccharidosis type IORPHA:579weak
Abnormal vestibular function2
cf:abnormal_vestibular_function
- Usher syndromePMID:21234346weak
- spinocerebellar ataxia type 3ORPHA:98757weak
Abnormality of blood and blood-forming tissues2
cf:abnormality_of_blood_and_blood_forming_t
- Fanconi anemiaORPHA:84weak
- Sjogren syndromeORPHA:289390weak
Abnormality of coagulation2
cf:abnormality_of_coagulation
- classic galactosemiaORPHA:79239weak
- von Willebrand diseaseORPHA:903weak
Abnormality of mental function2
cf:abnormality_of_mental_function
- Niemann-Pick disease type CORPHA:646weak
- classic galactosemiaORPHA:79239weak
Abnormality of metabolism/homeostasis2
cf:abnormality_of_metabolism_homeostasis
- Krabbe diseaseORPHA:487weak
- X-linked adrenoleukodystrophyORPHA:43weak
Abnormality of temperature regulation2
cf:abnormality_of_temperature_regulation
- beta-thalassemiaORPHA:848weak
- spinocerebellar ataxia type 3ORPHA:98757weak
Abnormality of the cardiovascular system2
cf:abnormality_of_the_cardiovascular_system
- Silver-Russell syndromeOMIM:180860weak
- Williams syndromeORPHA:904weak
Abnormality of the genitourinary system2
cf:abnormality_of_the_genitourinary_system
- Diamond-Blackfan anemiaORPHA:124weak
- primary ciliary dyskinesiaORPHA:244weak
Abnormality of the hypothalamus-pituitary axis2
cf:abnormality_of_the_hypothalamus_pituitar
- Fanconi anemiaORPHA:84weak
- granulomatosis with polyangiitisORPHA:900weak
Abnormality of the liver2
cf:abnormality_of_the_liver
- Fanconi anemiaORPHA:84weak
- Niemann-Pick disease type CORPHA:646weak
Abnormality of the musculature2
cf:abnormality_of_the_musculature
- Sjogren syndromeORPHA:289390weak
- sarcoidosisORPHA:797weak
Abnormality of the nose2
cf:abnormality_of_the_nose
- alkaptonuriaORPHA:56weak
- granulomatosis with polyangiitisPMID:41622276weak
Abnormality of the pharynx2
cf:abnormality_of_the_pharynx
- 22q11.2 deletion syndromeORPHA:567weak
- maple syrup urine diseaseORPHA:511weak
Abnormality of the skeletal system2
cf:abnormality_of_the_skeletal_system
- beta-thalassemiaORPHA:848weak
- primary ciliary dyskinesiaORPHA:244weak
Abnormality of the tonsils2
cf:abnormality_of_the_tonsils
- 22q11.2 deletion syndromeORPHA:567weak
- mucopolysaccharidosis type IORPHA:579weak
Abnormality of the upper limb2
cf:abnormality_of_the_upper_limb
- Diamond-Blackfan anemiaPMID:23812780weak
- Fanconi anemiaORPHA:84weak
Abnormality of the uterus2
cf:abnormality_of_the_uterus
- 22q11.2 deletion syndromeORPHA:567weak
- Fanconi anemiaORPHA:84weak
Abnormality of thrombocytes2
cf:abnormality_of_thrombocytes
- 22q11.2 deletion syndromeORPHA:567weak
- von Willebrand diseaseORPHA:903weak
Abnormality of thyroid physiology2
cf:abnormality_of_thyroid_physiology
- myotonic dystrophy type 2ORPHA:606weak
- nephropathic cystinosisORPHA:411629weak
Abnormality of visual evoked potentials2
cf:abnormality_of_visual_evoked_potentials
- Leber hereditary optic neuropathyPMID:15455797weak
- metachromatic leukodystrophyORPHA:512weak
Absent speech2
cf:absent_speech
- Angelman syndromePMID:41525882weak
- Rett syndromePMID:22678952weak
Absent thumb2
cf:absent_thumb
- Diamond-Blackfan anemiaORPHA:124weak
- Fanconi anemiaOMIM:227650weak
Acanthosis nigricans2
cf:acanthosis_nigricans
- achondroplasiaORPHA:15weak
- acromegalyORPHA:963weak
Accelerated skeletal maturation2
cf:accelerated_skeletal_maturation
- Beckwith-Wiedemann syndromePMID:38265109weak
- congenital adrenal hyperplasiaPMID:36734395weak
Acral overgrowth2
cf:acral_overgrowth
- McCune-Albright syndromeOMIM:174800weak
- acromegalyPMID:27743174weak
Acroparesthesia2
cf:acroparesthesia
- Fabry diseasePMID:32183665weak
- transthyretin amyloidosisORPHA:271861weak
Acute kidney injury2
cf:acute_kidney_injury
- atypical hemolytic uremic syndromeORPHA:2134weak
- systemic sclerosisORPHA:90291weak
Adrenal pheochromocytoma2
cf:adrenal_pheochromocytoma
- hereditary pheochromocytoma-paragangliomaPMID:42503923weak
- von Hippel-Lindau diseasePMID:42313274weak
Adrenocortical carcinoma2
cf:adrenocortical_carcinoma
- Beckwith-Wiedemann syndromePMID:34510813weak
- multiple endocrine neoplasia type 1PMID:41141223weak
Agitation2
cf:agitation
- Rett syndromeORPHA:778weak
- hereditary spastic paraplegiaOMIM:182601weak
Almond-shaped palpebral fissure2
cf:almond_shaped_palpebral_fissure
- Fanconi anemiaORPHA:84weak
- Prader-Willi syndromeOMIM:176270weak
Amaurosis fugax2
cf:amaurosis_fugax
- giant cell arteritisPMID:23523078weak
- hemiplegic migraineORPHA:569weak
Amenorrhea2
cf:amenorrhea
- hereditary hemochromatosisOMIM:235200weak
- multiple endocrine neoplasia type 1ORPHA:652weak
Anal atresia2
cf:anal_atresia
- 22q11.2 deletion syndromeORPHA:567weak
- Fanconi anemiaORPHA:84weak
Angiofibromas2
cf:angiofibromas
- multiple endocrine neoplasia type 1ORPHA:652weak
- tuberous sclerosis complexPMID:42265631weak
Anti-Ro52/TRIM21 antibody positivity2
cf:anti_ro52_trim21_antibody_positivity
- Sjogren syndromeORPHA:289390weak
- systemic sclerosisORPHA:90291weak
Aortic arch aneurysm2
cf:aortic_arch_aneurysm
- Turner syndromeORPHA:881weak
- Williams syndromeORPHA:904weak
Aortic root aneurysm2
cf:aortic_root_aneurysm
- Marfan syndromePMID:36340521weak
- autosomal dominant polycystic kidney diseaseORPHA:730weak
Aortic valve calcification2
cf:aortic_valve_calcification
- Hutchinson-Gilford progeria syndromeORPHA:740weak
- alkaptonuriaORPHA:56weak
Aortic valve stenosis2
cf:aortic_valve_stenosis
- Hutchinson-Gilford progeria syndromeORPHA:740weak
- alkaptonuriaPMID:41589138weak
Aplasia/Hypoplasia of the abdominal wall musculature2
cf:aplasia_hypoplasia_of_the_abdominal_wall
- Krabbe diseaseORPHA:487weak
- Niemann-Pick disease type CORPHA:646weak
Aplasia/Hypoplasia of the iris2
cf:aplasia_hypoplasia_of_the_iris
- Fanconi anemiaORPHA:84weak
- Williams syndromeORPHA:904weak
Apnea2
cf:apnea
- mucopolysaccharidosis type IORPHA:579weak
- stiff-person syndromeORPHA:3198weak
Arachnoid hemangiomatosis2
cf:arachnoid_hemangiomatosis
- Sturge-Weber syndromePMID:36013378weak
- hereditary pheochromocytoma-paragangliomaORPHA:29072weak
Arterial dissection2
cf:arterial_dissection
- Loeys-Dietz syndromePMID:40581620weak
- Turner syndromeORPHA:881weak
Arterial stenosis2
cf:arterial_stenosis
- Takayasu arteritisPMID:41860699moderate
- Williams syndromeORPHA:904weak
Arterial thrombosis2
cf:arterial_thrombosis
- Behçet diseasePMID:18603663weak
- paroxysmal nocturnal hemoglobinuriaORPHA:447weak
Arteriovenous malformation2
cf:arteriovenous_malformation
- Fanconi anemiaORPHA:84weak
- hereditary hemorrhagic telangiectasiaORPHA:774weak
Arthropathy2
cf:arthropathy
- alkaptonuriaPMID:40071956weak
- hereditary hemochromatosisPMID:19444013weak
Astrocytoma2
cf:astrocytoma
- neurofibromatosis type 1PMID:16134300weak
- neurofibromatosis type 2PMID:26706012weak
Atherosclerosis2
cf:atherosclerosis
- Hutchinson-Gilford progeria syndromePMID:21251803weak
- alkaptonuriaORPHA:56weak
Atypical scarring of skin2
cf:atypical_scarring_of_skin
- Loeys-Dietz syndromeORPHA:60030weak
- Turner syndromeORPHA:881weak
Axial dystonia2
cf:axial_dystonia
- Niemann-Pick disease type CORPHA:646weak
- multiple system atrophyORPHA:102weak
Axillary freckling2
cf:axillary_freckling
- neurofibromatosis type 1PMID:38596211weak
- neurofibromatosis type 2OMIM:101000weak
Bifid uvula2
cf:bifid_uvula
- 22q11.2 deletion syndromeOMIM:188400weak
- Loeys-Dietz syndromePMID:40241556weak
Bipolar affective disorder2
cf:bipolar_affective_disorder
- 22q11.2 deletion syndromeORPHA:567weak
- Niemann-Pick disease type CORPHA:646weak
Blepharophimosis2
cf:blepharophimosis
- 22q11.2 deletion syndromeOMIM:188400weak
- Williams syndromeORPHA:904weak
Bone-marrow foam cells2
cf:bone_marrow_foam_cells
- Niemann-Pick disease type CORPHA:646weak
- acid sphingomyelinase deficiencyOMIM:607616weak
Bowing of the legs2
cf:bowing_of_the_legs
- X-linked hypophosphatemiaORPHA:89936weak
- achondroplasiaPMID:17224659weak
Bowing of the long bones2
cf:bowing_of_the_long_bones
- X-linked hypophosphatemiaORPHA:89936weak
- hypophosphatasiaORPHA:436weak
Brain stem compression2
cf:brain_stem_compression
- achondroplasiaPMID:37501185weak
- neurofibromatosis type 2ORPHA:637weak
Broad forehead2
cf:broad_forehead
- Williams syndromeORPHA:904weak
- acromegalyORPHA:963weak
Broad nasal tip2
cf:broad_nasal_tip
- Williams syndromeOMIM:194050weak
- mucopolysaccharidosis type IOMIM:607014weak
Calcinosis cutis2
cf:calcinosis_cutis
- dermatomyositisPMID:42147513weak
- systemic sclerosisORPHA:90291weak
Calf muscle hypertrophy2
cf:calf_muscle_hypertrophy
- Duchenne muscular dystrophyPMID:41037163weak
- myotonic dystrophy type 2ORPHA:606weak
Camptocormia2
cf:camptocormia
- facioscapulohumeral muscular dystrophyORPHA:269weak
- multiple system atrophyORPHA:102weak
Carcinoid tumor2
cf:carcinoid_tumor
- multiple endocrine neoplasia type 1ORPHA:652weak
- tuberous sclerosis complexORPHA:805weak
Cataplexy2
cf:cataplexy
- Niemann-Pick disease type CPMID:33892845weak
- narcolepsy type 1ORPHA:2073weak
Cellulitis2
cf:cellulitis
- X-linked hypophosphatemiaORPHA:89936weak
- dermatomyositisORPHA:221weak
Central sleep apnea2
cf:central_sleep_apnea
- achondroplasiaPMID:39813116weak
- multiple system atrophyPMID:32925365weak
Cerebellar atrophy2
cf:cerebellar_atrophy
- Friedreich ataxiaORPHA:95weak
- hemiplegic migrainePMID:41370402weak
Cerebral edema2
cf:cerebral_edema
- hemiplegic migraineORPHA:569weak
- maple syrup urine diseasePMID:41257986weak
Cerebral hemorrhage2
cf:cerebral_hemorrhage
- hereditary hemorrhagic telangiectasiaPMID:41843464weak
- hereditary pheochromocytoma-paragangliomaORPHA:29072weak
Cervical lymphadenopathy2
cf:cervical_lymphadenopathy
- Kawasaki diseasePMID:41338893weak
- multiple endocrine neoplasia type 2ORPHA:653weak
Cherry red spot of the macula2
cf:cherry_red_spot_of_the_macula
- Tay-Sachs diseasePMID:22670494weak
- acid sphingomyelinase deficiencyPMID:30795770weak
Chiari malformation2
cf:chiari_malformation
- Sturge-Weber syndromeORPHA:3205weak
- Williams syndromeORPHA:904weak
Chiari type I malformation2
cf:chiari_type_i_malformation
- Williams syndromeOMIM:194050weak
- X-linked hypophosphatemiaORPHA:89936weak
Choanal atresia2
cf:choanal_atresia
- 22q11.2 deletion syndromeORPHA:567weak
- Fanconi anemiaORPHA:84weak
Chondrocalcinosis2
cf:chondrocalcinosis
- Wilson diseaseOMIM:277900weak
- dermatomyositisORPHA:221weak
Chronic constipation2
cf:chronic_constipation
- Prader-Willi syndromeOMIM:176270weak
- Williams syndromeOMIM:194050weak
Chronic sinusitis2
cf:chronic_sinusitis
- cystic fibrosisOMIM:219700weak
- primary ciliary dyskinesiaORPHA:244weak
Chylothorax2
cf:chylothorax
- lymphangioleiomyomatosisPMID:39936727weak
- sarcoidosisORPHA:797weak
Clinodactyly2
cf:clinodactyly
- Prader-Willi syndromeOMIM:176270weak
- fibrodysplasia ossificans progressivaORPHA:337weak
Clitoral hypertrophy2
cf:clitoral_hypertrophy
- Alport syndromeORPHA:63weak
- congenital adrenal hyperplasiaORPHA:90794weak
Clubbing of fingers2
cf:clubbing_of_fingers
- cystic fibrosisOMIM:219700weak
- idiopathic pulmonary fibrosisPMID:32474425weak
Colon cancer2
cf:colon_cancer
- Diamond-Blackfan anemiaOMIM:105650weak
- neurofibromatosis type 1OMIM:162200weak
Color vision defect2
cf:color_vision_defect
- Leber hereditary optic neuropathyPMID:16424523weak
- retinitis pigmentosaORPHA:791weak
Confetti-like hypopigmented macules2
cf:confetti_like_hypopigmented_macules
- multiple endocrine neoplasia type 1ORPHA:652weak
- tuberous sclerosis complexORPHA:805weak
Conjunctival telangiectasia2
cf:conjunctival_telangiectasia
- Sturge-Weber syndromeORPHA:3205weak
- hereditary hemorrhagic telangiectasiaORPHA:774weak
Coxa valga2
cf:coxa_valga
- Hutchinson-Gilford progeria syndromeORPHA:740weak
- mucopolysaccharidosis type IOMIM:607014weak
Cranial nerve compression2
cf:cranial_nerve_compression
- hereditary pheochromocytoma-paragangliomaORPHA:29072weak
- multiple endocrine neoplasia type 1ORPHA:652weak
Craniofacial disproportion2
cf:craniofacial_disproportion
- Hutchinson-Gilford progeria syndromePMID:19236595weak
- Silver-Russell syndromePMID:41169288weak
Crescentic glomerulonephritis2
cf:crescentic_glomerulonephritis
- eosinophilic granulomatosis with polyangiitisORPHA:183weak
- microscopic polyangiitisPMID:30404112weak
Dark urine2
cf:dark_urine
- acute intermittent porphyriaORPHA:79276weak
- alkaptonuriaPMID:40938761weak
Death in infancy2
cf:death_in_infancy
- achondroplasiaOMIM:100800weak
- epidermolysis bullosaPMID:27931749weak
Decerebrate rigidity2
cf:decerebrate_rigidity
- Krabbe diseaseORPHA:487weak
- metachromatic leukodystrophyORPHA:512weak
Decreased circulating aldosterone concentration2
cf:decreased_circulating_aldosterone_concen
- Addison diseasePMID:40982814weak
- congenital adrenal hyperplasiaORPHA:90794weak
Decreased circulating complement C4 concentration2
cf:decreased_circulating_complement_c4_conc
- Sjogren syndromeORPHA:289390weak
- hereditary angioedemaOMIM:106100weak
Decreased circulating cortisol level2
cf:decreased_circulating_cortisol_level
- Addison diseasePMID:40982814weak
- congenital adrenal hyperplasiaPMID:31447379weak
Decreased circulating immunoglobulin concentration2
cf:decreased_circulating_immunoglobulin_con
- Sjogren syndromeORPHA:289390weak
- myotonic dystrophy type 2ORPHA:606weak
Decreased circulating vitamin D concentration2
cf:decreased_circulating_vitamin_d_concentr
- classic galactosemiaORPHA:79239weak
- primary sclerosing cholangitisORPHA:171weak
Decreased DLCO2
cf:decreased_dlco
- acid sphingomyelinase deficiencyPMID:32616389weak
- idiopathic pulmonary fibrosisPMID:34233892weak
Decreased glomerular filtration rate2
cf:decreased_glomerular_filtration_rate
- alkaptonuriaOMIM:203500weak
- autosomal dominant polycystic kidney diseaseORPHA:730weak
Decreased motor nerve conduction velocity2
cf:decreased_motor_nerve_conduction_velocit
- Charcot-Marie-Tooth disease type 1APMID:10586223weak
- Friedreich ataxiaORPHA:95weak
Decreased muscle mass2
cf:decreased_muscle_mass
- Marfan syndromeOMIM:154700weak
- Prader-Willi syndromeOMIM:176270weak
Decreased response to growth hormone stimulation test2
cf:decreased_response_to_growth_hormone_sti
- Prader-Willi syndromePMID:24932597weak
- Silver-Russell syndromeOMIM:180860weak
Decreased total neutrophil count2
cf:decreased_total_neutrophil_count
- Diamond-Blackfan anemiaPMID:41498485weak
- Fanconi anemiaOMIM:227650weak
Decreased vigilance2
cf:decreased_vigilance
- hemiplegic migrainePMID:32430436weak
- multiple endocrine neoplasia type 1ORPHA:652weak
Deep venous thrombosis2
cf:deep_venous_thrombosis
- fibrodysplasia ossificans progressivaORPHA:337weak
- paroxysmal nocturnal hemoglobinuriaPMID:42253628weak
Deeply set eye2
cf:deeply_set_eye
- Angelman syndromeOMIM:105830weak
- Marfan syndromeOMIM:154700weak
Degeneration of the lateral corticospinal tracts2
cf:degeneration_of_the_lateral_corticospina
- amyotrophic lateral sclerosisPMID:42113599weak
- hereditary spastic paraplegiaOMIM:182601weak
Delayed cranial suture closure2
cf:delayed_cranial_suture_closure
- Diamond-Blackfan anemiaOMIM:105650weak
- Silver-Russell syndromeOMIM:180860weak
Delayed eruption of teeth2
cf:delayed_eruption_of_teeth
- Hutchinson-Gilford progeria syndromeORPHA:740weak
- mucopolysaccharidosis type IIOMIM:309900weak
Dental crowding2
cf:dental_crowding
- Hutchinson-Gilford progeria syndromePMID:19236595weak
- Marfan syndromeOMIM:154700weak
Dermatan sulfate excretion in urine2
cf:dermatan_sulfate_excretion_in_urine
- mucopolysaccharidosis type IOMIM:607014weak
- mucopolysaccharidosis type IIORPHA:580weak
Developmental cataract2
cf:developmental_cataract
- Alport syndromeOMIM:301050weak
- Diamond-Blackfan anemiaORPHA:124weak
Diffuse alveolar hemorrhage2
cf:diffuse_alveolar_hemorrhage
- granulomatosis with polyangiitisORPHA:900weak
- microscopic polyangiitisPMID:30404112weak
Diffuse reticular or finely nodular infiltrations2
cf:diffuse_reticular_or_finely_nodular_infi
- acid sphingomyelinase deficiencyOMIM:607616weak
- dermatomyositisORPHA:221weak
Dilatation of the cerebral artery2
cf:dilatation_of_the_cerebral_artery
- Pompe diseaseOMIM:232300weak
- autosomal dominant polycystic kidney diseaseORPHA:730weak
Diminished deep tendon reflex2
cf:diminished_deep_tendon_reflex
- Lambert-Eaton myasthenic syndromePMID:42053006weak
- maple syrup urine diseaseORPHA:511weak
Disproportionate short stature2
cf:disproportionate_short_stature
- X-linked hypophosphatemiaPMID:42429952weak
- achondroplasiaPMID:42285849weak
Disproportionate tall stature2
cf:disproportionate_tall_stature
- Marfan syndromeOMIM:154700weak
- multiple endocrine neoplasia type 2ORPHA:653weak
Distal amyotrophy2
cf:distal_amyotrophy
- Charcot-Marie-Tooth disease type 1APMID:10586223weak
- amyotrophic lateral sclerosisORPHA:803weak
Distal muscle weakness2
cf:distal_muscle_weakness
- Charcot-Marie-Tooth disease type 1APMID:10586223weak
- acute intermittent porphyriaORPHA:79276weak
Distal upper limb muscle weakness2
cf:distal_upper_limb_muscle_weakness
- facioscapulohumeral muscular dystrophyORPHA:269weak
- hemiplegic migrainePMID:38307656weak
Downturned corners of mouth2
cf:downturned_corners_of_mouth
- Prader-Willi syndromeOMIM:176270weak
- Silver-Russell syndromeOMIM:180860weak
Dysmetria2
cf:dysmetria
- Friedreich ataxiaORPHA:95weak
- Williams syndromeORPHA:904weak
Dysostosis multiplex2
cf:dysostosis_multiplex
- mucopolysaccharidosis type IPMID:25345091weak
- mucopolysaccharidosis type IIORPHA:580weak
Early young adult onset2
cf:early_young_adult_onset
- alpha-1 antitrypsin deficiencyPMID:21960536weak
- long QT syndromeOMIM:613688weak
Ectopic kidney2
cf:ectopic_kidney
- Fanconi anemiaOMIM:227650weak
- Turner syndromeORPHA:881weak
Elevated circulating LDL-C concentration2
cf:elevated_circulating_ldl_c_concentration
- acid sphingomyelinase deficiencyOMIM:607616weak
- familial hypercholesterolemiaPMID:34456200weak
Elevated urinary catecholamine level2
cf:elevated_urinary_catecholamine_level
- multiple endocrine neoplasia type 2ORPHA:653weak
- von Hippel-Lindau diseaseORPHA:892weak
Elevated urinary norepinephrine level2
cf:elevated_urinary_norepinephrine_level
- hereditary pheochromocytoma-paragangliomaORPHA:29072weak
- multiple endocrine neoplasia type 2ORPHA:653weak
EMG: myopathic abnormalities2
cf:emg_myopathic_abnormalities
- dermatomyositisORPHA:221weak
- facioscapulohumeral muscular dystrophyORPHA:269weak
EMG: neuropathic changes2
cf:emg_neuropathic_changes
- metachromatic leukodystrophyOMIM:250100weak
- spinal muscular atrophyPMID:41984556weak
Encephalopathy2
cf:encephalopathy
- classic galactosemiaORPHA:79239weak
- primary sclerosing cholangitisORPHA:171weak
Endocarditis2
cf:endocarditis
- Behçet diseasePMID:18603663weak
- eosinophilic granulomatosis with polyangiitisORPHA:183weak
Enlarged kidney2
cf:enlarged_kidney
- Beckwith-Wiedemann syndromePMID:40949896weak
- autosomal dominant polycystic kidney diseasePMID:42212578weak
Enlarged thorax2
cf:enlarged_thorax
- Turner syndromeORPHA:881weak
- mucopolysaccharidosis type IORPHA:579weak
Enlarged tonsils2
cf:enlarged_tonsils
- mucopolysaccharidosis type IOMIM:607014weak
- mucopolysaccharidosis type IIORPHA:580weak
Ependymoma2
cf:ependymoma
- multiple endocrine neoplasia type 1ORPHA:652weak
- neurofibromatosis type 2PMID:26706012weak
Episcleritis2
cf:episcleritis
- IgA vasculitisORPHA:761weak
- microscopic polyangiitisPMID:32078414weak
Episodic abdominal pain2
cf:episodic_abdominal_pain
- hereditary pheochromocytoma-paragangliomaORPHA:29072weak
- paroxysmal nocturnal hemoglobinuriaORPHA:447weak
Everted lower lip vermilion2
cf:everted_lower_lip_vermilion
- Williams syndromeORPHA:904weak
- mucopolysaccharidosis type IORPHA:579weak
Exaggerated startle response2
cf:exaggerated_startle_response
- Tay-Sachs diseasePMID:22723944weak
- stiff-person syndromeORPHA:3198weak
Exocrine pancreatic insufficiency2
cf:exocrine_pancreatic_insufficiency
- cystic fibrosisPMID:42242564weak
- nephropathic cystinosisOMIM:219800weak
Facial asymmetry2
cf:facial_asymmetry
- Fanconi anemiaORPHA:84weak
- McCune-Albright syndromePMID:41914823weak
Fair hair2
cf:fair_hair
- Angelman syndromeOMIM:105830weak
- phenylketonuriaOMIM:261600weak
Female infertility2
cf:female_infertility
- Turner syndromePMID:40169532weak
- primary ciliary dyskinesiaORPHA:244weak
Femoral bowing2
cf:femoral_bowing
- achondroplasiaOMIM:100800weak
- osteogenesis imperfectaOMIM:166200weak
Flared iliac wing2
cf:flared_iliac_wing
- X-linked hypophosphatemiaORPHA:89936weak
- mucopolysaccharidosis type IOMIM:607014weak
Flushing2
cf:flushing
- hereditary pheochromocytoma-paragangliomaORPHA:29072weak
- mast cell activation syndromePMID:42149735weak
Focal-onset seizure2
cf:focal_onset_seizure
- Niemann-Pick disease type CORPHA:646weak
- tuberous sclerosis complexORPHA:805weak
Food intolerance2
cf:food_intolerance
- Williams syndromeOMIM:194050weak
- classic galactosemiaORPHA:79239weak
Frontal balding2
cf:frontal_balding
- congenital adrenal hyperplasiaORPHA:90794weak
- myotonic dystrophy type 1PMID:41766784weak
Functional motor deficit2
cf:functional_motor_deficit
- Sjogren syndromeORPHA:289390weak
- X-linked adrenoleukodystrophyORPHA:43weak
Galactorrhea2
cf:galactorrhea
- acromegalyORPHA:963weak
- multiple endocrine neoplasia type 1ORPHA:652weak
Gastrointestinal angiodysplasia2
cf:gastrointestinal_angiodysplasia
- Turner syndromeORPHA:881weak
- von Willebrand diseaseORPHA:903weak
Gastrointestinal inflammation2
cf:gastrointestinal_inflammation
- Turner syndromeORPHA:881weak
- primary biliary cholangitisORPHA:186weak
Gastroparesis2
cf:gastroparesis
- systemic sclerosisORPHA:90291weak
- transthyretin amyloidosisORPHA:271861weak
Gastrostomy tube feeding in infancy2
cf:gastrostomy_tube_feeding_in_infancy
- Niemann-Pick disease type CORPHA:646weak
- metachromatic leukodystrophyORPHA:512weak
Generalized abnormality of skin2
cf:generalized_abnormality_of_skin
- Hutchinson-Gilford progeria syndromePMID:40644604weak
- tuberous sclerosis complexORPHA:805weak
Generalized hirsutism2
cf:generalized_hirsutism
- acromegalyORPHA:963weak
- mucopolysaccharidosis type IORPHA:579weak
Generalized hypopigmentation2
cf:generalized_hypopigmentation
- Prader-Willi syndromeOMIM:176270weak
- phenylketonuriaOMIM:261600weak
Genu varum2
cf:genu_varum
- X-linked hypophosphatemiaORPHA:89936weak
- achondroplasiaPMID:39813116weak
Glioma2
cf:glioma
- neurofibromatosis type 1PMID:11898512weak
- neurofibromatosis type 2ORPHA:637weak
Gliosis2
cf:gliosis
- progressive supranuclear palsyORPHA:683weak
- sporadic Creutzfeldt-Jakob diseasePMID:8708680weak
Gonadoblastoma2
cf:gonadoblastoma
- Beckwith-Wiedemann syndromeOMIM:130650weak
- Turner syndromeORPHA:881weak
Gynecomastia2
cf:gynecomastia
- Klinefelter syndromePMID:39932051well_established
- congenital adrenal hyperplasiaOMIM:201910weak
Hallux valgus2
cf:hallux_valgus
- Williams syndromeORPHA:904weak
- fibrodysplasia ossificans progressivaPMID:42068419weak
Hammertoe2
cf:hammertoe
- Charcot-Marie-Tooth disease type 1APMID:41300731weak
- Marfan syndromeOMIM:154700weak
Heart block2
cf:heart_block
- sarcoidosisPMID:38923509weak
- transthyretin amyloidosisORPHA:271861weak
Hemarthrosis2
cf:hemarthrosis
- hemophilia APMID:38763978weak
- hemophilia BPMID:40409290weak
Hemiplegia2
cf:hemiplegia
- granulomatosis with polyangiitisORPHA:900weak
- hemiplegic migrainePMID:42178246weak
Hemoglobinuria2
cf:hemoglobinuria
- G6PD deficiencyOMIM:300908weak
- paroxysmal nocturnal hemoglobinuriaPMID:41171226weak
Heparan sulfate excretion in urine2
cf:heparan_sulfate_excretion_in_urine
- mucopolysaccharidosis type IOMIM:607014weak
- mucopolysaccharidosis type IIORPHA:580weak
Hepatic cysts2
cf:hepatic_cysts
- autosomal dominant polycystic kidney diseasePMID:42035037weak
- tuberous sclerosis complexORPHA:805weak
High hypermetropia2
cf:high_hypermetropia
- Usher syndromeORPHA:886weak
- Williams syndromeORPHA:904weak
High, narrow palate2
cf:high_narrow_palate
- 22q11.2 deletion syndromeOMIM:188400weak
- Turner syndromeORPHA:881weak
Hip dislocation2
cf:hip_dislocation
- Fanconi anemiaORPHA:84weak
- Hutchinson-Gilford progeria syndromeORPHA:740weak
Hip pain2
cf:hip_pain
- Hutchinson-Gilford progeria syndromeORPHA:740weak
- fibrodysplasia ossificans progressivaORPHA:337weak
Hirsutism2
cf:hirsutism
- congenital adrenal hyperplasiaPMID:39774706weak
- mucopolysaccharidosis type IOMIM:607014weak
Hydrops fetalis2
cf:hydrops_fetalis
- Niemann-Pick disease type CORPHA:646weak
- long QT syndromePMID:17588835weak
Hyperactive deep tendon reflexes2
cf:hyperactive_deep_tendon_reflexes
- Krabbe diseaseOMIM:245200weak
- sporadic Creutzfeldt-Jakob diseaseORPHA:204weak
Hyperbilirubinemia2
cf:hyperbilirubinemia
- Wilson diseaseOMIM:277900weak
- hereditary spherocytosisPMID:26009624weak
Hyperchloremic metabolic acidosis2
cf:hyperchloremic_metabolic_acidosis
- classic galactosemiaOMIM:230400weak
- nephropathic cystinosisORPHA:411629weak
Hypercholesterolemia2
cf:hypercholesterolemia
- Prader-Willi syndromeOMIM:176270weak
- primary biliary cholangitisORPHA:186weak
Hyperesthesia2
cf:hyperesthesia
- Krabbe diseaseORPHA:487weak
- neurofibromatosis type 2ORPHA:637weak
Hyperintensity of cerebral white matter on MRI2
cf:hyperintensity_of_cerebral_white_matter_
- metachromatic leukodystrophyORPHA:512weak
- sporadic Creutzfeldt-Jakob diseaseORPHA:204weak
Hyperkalemia2
cf:hyperkalemia
- Addison diseasePMID:40720873weak
- congenital adrenal hyperplasiaORPHA:90794weak
Hyperkalemic metabolic acidosis2
cf:hyperkalemic_metabolic_acidosis
- Addison diseaseORPHA:85138weak
- congenital adrenal hyperplasiaORPHA:90794weak
Hypernasal speech2
cf:hypernasal_speech
- 22q11.2 deletion syndromeORPHA:567weak
- Prader-Willi syndromeOMIM:176270weak
Hyperphosphaturia2
cf:hyperphosphaturia
- Wilson diseaseOMIM:277900weak
- nephropathic cystinosisORPHA:411629weak
Hypertension associated with pheochromocytoma2
cf:hypertension_associated_with_pheochromoc
- hereditary pheochromocytoma-paragangliomaPMID:39229379weak
- multiple endocrine neoplasia type 2ORPHA:653weak
Hypertensive crisis2
cf:hypertensive_crisis
- 22q11.2 deletion syndromeORPHA:567weak
- multiple endocrine neoplasia type 2ORPHA:653weak
Hypertensive retinopathy2
cf:hypertensive_retinopathy
- hereditary pheochromocytoma-paragangliomaORPHA:29072weak
- von Hippel-Lindau diseaseORPHA:892weak
Hypertrichosis2
cf:hypertrichosis
- acromegalyORPHA:963weak
- mucopolysaccharidosis type IIOMIM:309900weak
Hypodontia2
cf:hypodontia
- Hutchinson-Gilford progeria syndromePMID:19236595weak
- Williams syndromePMID:7937257weak
Hypoplastic toenails2
cf:hypoplastic_toenails
- Turner syndromeORPHA:881weak
- Williams syndromeORPHA:904weak
Hypotension2
cf:hypotension
- Addison diseasePMID:40720873weak
- congenital adrenal hyperplasiaORPHA:90794weak
Hypoventilation2
cf:hypoventilation
- Duchenne muscular dystrophyPMID:28397169weak
- Prader-Willi syndromeOMIM:176270weak
Hypoxemia2
cf:hypoxemia
- achondroplasiaORPHA:15weak
- sickle cell diseasePMID:40879552weak
Hypsarrhythmia2
cf:hypsarrhythmia
- neurofibromatosis type 1OMIM:162200weak
- sporadic Creutzfeldt-Jakob diseaseORPHA:204weak
Ileus2
cf:ileus
- acute intermittent porphyriaORPHA:79276weak
- cystic fibrosisOMIM:219700weak
Immunodeficiency2
cf:immunodeficiency
- 22q11.2 deletion syndromePMID:40038168weak
- common variable immunodeficiencyOMIM:607594weak
Impaired temperature sensation2
cf:impaired_temperature_sensation
- hemiplegic migraineORPHA:569weak
- transthyretin amyloidosisORPHA:271861weak
Increased bone mineral density2
cf:increased_bone_mineral_density
- Erdheim-Chester diseasePMID:25744785weak
- Williams syndromeORPHA:904weak
Increased circulating cortisol level2
cf:increased_circulating_cortisol_level
- McCune-Albright syndromePMID:18489744weak
- multiple endocrine neoplasia type 1ORPHA:652weak
Increased circulating immunoglobulin concentration2
cf:increased_circulating_immunoglobulin_con
- Sjogren syndromeORPHA:289390weak
- autoimmune hepatitisORPHA:2137weak
Increased circulating prolactin concentration2
cf:increased_circulating_prolactin_concentr
- McCune-Albright syndromeOMIM:174800weak
- acromegalyORPHA:963weak
Increased level of hippuric acid in urine2
cf:increased_level_of_hippuric_acid_in_urin
- maple syrup urine diseaseOMIM:248600weak
- phenylketonuriaOMIM:261600weak
Infantile spasms2
cf:infantile_spasms
- Sturge-Weber syndromeORPHA:3205weak
- tuberous sclerosis complexPMID:38137462weak
Infectious encephalitis2
cf:infectious_encephalitis
- Behçet diseasePMID:41971108weak
- IgA vasculitisORPHA:761weak
Inguinal freckling2
cf:inguinal_freckling
- neurofibromatosis type 1PMID:38596211weak
- neurofibromatosis type 2OMIM:101000weak
Insidious onset2
cf:insidious_onset
- Charcot-Marie-Tooth disease type 1APMID:15239197weak
- hereditary spastic paraplegiaOMIM:182601weak
Intention tremor2
cf:intention_tremor
- Friedreich ataxiaORPHA:95weak
- Niemann-Pick disease type CORPHA:646weak
Intervertebral disk degeneration2
cf:intervertebral_disk_degeneration
- 22q11.2 deletion syndromeOMIM:188400weak
- alkaptonuriaOMIM:203500weak
Intestinal malrotation2
cf:intestinal_malrotation
- 22q11.2 deletion syndromeORPHA:567weak
- primary ciliary dyskinesiaORPHA:244weak
Intestinal polyposis2
cf:intestinal_polyposis
- McCune-Albright syndromeOMIM:174800weak
- hereditary hemorrhagic telangiectasiaORPHA:774weak
Keratitis2
cf:keratitis
- facioscapulohumeral muscular dystrophyORPHA:269weak
- granulomatosis with polyangiitisORPHA:900weak
Large cafe-au-lait macules with irregular margins2
cf:large_cafe_au_lait_macules_with_irregula
- McCune-Albright syndromePMID:18489744weak
- multiple endocrine neoplasia type 1ORPHA:652weak
Large fontanelles2
cf:large_fontanelles
- Beckwith-Wiedemann syndromeOMIM:130650weak
- hypophosphatasiaORPHA:436weak
Left ventricular hypertrophy2
cf:left_ventricular_hypertrophy
- Fabry diseasePMID:33602475weak
- transthyretin amyloidosisORPHA:271861weak
Left ventricular systolic dysfunction2
cf:left_ventricular_systolic_dysfunction
- Hutchinson-Gilford progeria syndromeORPHA:740weak
- familial dilated cardiomyopathyPMID:19480309weak
Limb ataxia2
cf:limb_ataxia
- Friedreich ataxiaPMID:40994821weak
- X-linked adrenoleukodystrophyOMIM:300100weak
Limb dystonia2
cf:limb_dystonia
- Niemann-Pick disease type CORPHA:646weak
- Wilson diseaseOMIM:277900weak
Limb-girdle muscle weakness2
cf:limb_girdle_muscle_weakness
- dermatomyositisORPHA:221weak
- facioscapulohumeral muscular dystrophyORPHA:269weak
Limited elbow extension2
cf:limited_elbow_extension
- Marfan syndromeOMIM:154700weak
- achondroplasiaORPHA:15weak
Limited hip movement2
cf:limited_hip_movement
- Hutchinson-Gilford progeria syndromeORPHA:740weak
- alkaptonuriaOMIM:203500weak
Limited shoulder movement2
cf:limited_shoulder_movement
- Hutchinson-Gilford progeria syndromeORPHA:740weak
- alkaptonuriaOMIM:203500weak
Lisch nodules2
cf:lisch_nodules
- neurofibromatosis type 1PMID:38596211weak
- neurofibromatosis type 2OMIM:101000weak
Livedo reticularis2
cf:livedo_reticularis
- microscopic polyangiitisPMID:30404112weak
- sarcoidosisORPHA:797weak
Long philtrum2
cf:long_philtrum
- 22q11.2 deletion syndromeORPHA:567weak
- Williams syndromeORPHA:904weak
Low anterior hairline2
cf:low_anterior_hairline
- Diamond-Blackfan anemiaORPHA:124weak
- mucopolysaccharidosis type IORPHA:579weak
Lower limb spasticity2
cf:lower_limb_spasticity
- Niemann-Pick disease type CORPHA:646weak
- hereditary spastic paraplegiaPMID:42026498weak
Lumbar hyperlordosis2
cf:lumbar_hyperlordosis
- achondroplasiaORPHA:15weak
- stiff-person syndromeORPHA:3198weak
Lymphoma2
cf:lymphoma
- Sjogren syndromeORPHA:289390weak
- dermatomyositisORPHA:221weak
Macule2
cf:macule
- IgA vasculitisORPHA:761weak
- lymphangioleiomyomatosisORPHA:538weak
Male hypogonadism2
cf:male_hypogonadism
- myotonic dystrophy type 2ORPHA:606weak
- nephropathic cystinosisOMIM:219800weak
Medullary thyroid carcinoma2
cf:medullary_thyroid_carcinoma
- multiple endocrine neoplasia type 2PMID:41614693weak
- neurofibromatosis type 1OMIM:162200weak
Metabolic acidosis2
cf:metabolic_acidosis
- classic galactosemiaOMIM:230400weak
- nephropathic cystinosisOMIM:219800weak
Micropenis2
cf:micropenis
- Prader-Willi syndromeOMIM:176270weak
- Williams syndromeOMIM:194050weak
Microphthalmia2
cf:microphthalmia
- 22q11.2 deletion syndromeORPHA:567weak
- Fanconi anemiaORPHA:84weak
Microscopic hematuria2
cf:microscopic_hematuria
- Alport syndromePMID:31630709weak
- nephropathic cystinosisOMIM:219800weak
Mitral valve calcification2
cf:mitral_valve_calcification
- Hutchinson-Gilford progeria syndromeORPHA:740weak
- alkaptonuriaORPHA:56weak
Multiple cafe-au-lait spots2
cf:multiple_cafe_au_lait_spots
- Fanconi anemiaORPHA:84weak
- neurofibromatosis type 1PMID:31443616weak
Muscle hemorrhage2
cf:muscle_hemorrhage
- hemophilia AOMIM:306700weak
- von Willebrand diseaseORPHA:903weak
Muscle stiffness2
cf:muscle_stiffness
- mucopolysaccharidosis type IIORPHA:580weak
- myotonic dystrophy type 2ORPHA:606weak
Muscular dystrophy2
cf:muscular_dystrophy
- Duchenne muscular dystrophyOMIM:310200weak
- limb-girdle muscular dystrophyOMIM:253600weak
Myelodysplasia2
cf:myelodysplasia
- Diamond-Blackfan anemiaPMID:41498485weak
- Fanconi anemiaPMID:38907138weak
Myotonia2
cf:myotonia
- myotonic dystrophy type 1PMID:38613590weak
- myotonic dystrophy type 2PMID:40017289weak
Narrow chest2
cf:narrow_chest
- Diamond-Blackfan anemiaOMIM:105650weak
- hypophosphatasiaORPHA:436weak
Narrow forehead2
cf:narrow_forehead
- Prader-Willi syndromeOMIM:176270weak
- Williams syndromeOMIM:194050weak
Neck pain2
cf:neck_pain
- acute intermittent porphyriaORPHA:79276weak
- multiple endocrine neoplasia type 2ORPHA:653weak
Neonatal hypoglycemia2
cf:neonatal_hypoglycemia
- Beckwith-Wiedemann syndromePMID:42158694weak
- congenital adrenal hyperplasiaORPHA:90794weak
Neoplasm2
cf:neoplasm
- Fanconi anemiaORPHA:84weak
- dermatomyositisPMID:41420616weak
Neoplasm of the gallbladder2
cf:neoplasm_of_the_gallbladder
- metachromatic leukodystrophyORPHA:512weak
- primary sclerosing cholangitisORPHA:171weak
Neoplasm of the pancreas2
cf:neoplasm_of_the_pancreas
- multiple endocrine neoplasia type 1ORPHA:652weak
- von Hippel-Lindau diseaseORPHA:892weak
Nephroblastoma2
cf:nephroblastoma
- Beckwith-Wiedemann syndromePMID:42158694weak
- Silver-Russell syndromeOMIM:180860weak
Nephropathy2
cf:nephropathy
- familial Mediterranean feverORPHA:342weak
- transthyretin amyloidosisORPHA:271861weak
Neurofibroma2
cf:neurofibroma
- neurofibromatosis type 1PMID:11898512weak
- neurofibromatosis type 2OMIM:101000weak
Neuroma2
cf:neuroma
- multiple endocrine neoplasia type 2ORPHA:653weak
- neurofibromatosis type 2ORPHA:637weak
Nevus flammeus2
cf:nevus_flammeus
- Beckwith-Wiedemann syndromePMID:40949896weak
- Williams syndromeORPHA:904weak
Nocturnal lagophthalmos2
cf:nocturnal_lagophthalmos
- Hutchinson-Gilford progeria syndromeORPHA:740weak
- facioscapulohumeral muscular dystrophyORPHA:269weak
Normochromic anemia2
cf:normochromic_anemia
- Diamond-Blackfan anemiaORPHA:124weak
- Sjogren syndromeORPHA:289390weak
Normocytic anemia2
cf:normocytic_anemia
- Addison diseaseORPHA:85138weak
- Sjogren syndromeORPHA:289390weak
Nyctalopia2
cf:nyctalopia
- Usher syndromePMID:37126974weak
- retinitis pigmentosaPMID:39930177weak
Obsessive-compulsive trait2
cf:obsessive_compulsive_trait
- Williams syndromeOMIM:194050weak
- myotonic dystrophy type 1OMIM:160900weak
Oligohydramnios2
cf:oligohydramnios
- Fanconi anemiaORPHA:84weak
- Prader-Willi syndromeOMIM:176270weak
Ophthalmoplegia2
cf:ophthalmoplegia
- acromegalyORPHA:963weak
- retinitis pigmentosaORPHA:791weak
Optic neuritis2
cf:optic_neuritis
- Behçet diseasePMID:42202380weak
- Sjogren syndromeORPHA:289390weak
Orthopnea2
cf:orthopnea
- amyotrophic lateral sclerosisORPHA:803weak
- familial dilated cardiomyopathyORPHA:154weak
Orthostatic hypotension2
cf:orthostatic_hypotension
- Addison diseasePMID:41405598weak
- primary biliary cholangitisORPHA:186weak
Osteomyelitis2
cf:osteomyelitis
- Erdheim-Chester diseaseORPHA:35687weak
- systemic sclerosisORPHA:90291weak
Otitis media2
cf:otitis_media
- Fragile X syndromeORPHA:908weak
- granulomatosis with polyangiitisPMID:41622276weak
Otosclerosis2
cf:otosclerosis
- mucopolysaccharidosis type IIORPHA:580weak
- osteogenesis imperfectaOMIM:166220weak
Overgrowth2
cf:overgrowth
- Beckwith-Wiedemann syndromePMID:42158694weak
- neurofibromatosis type 1OMIM:162200weak
Pancreatic cysts2
cf:pancreatic_cysts
- autosomal dominant polycystic kidney diseaseORPHA:730weak
- von Hippel-Lindau diseaseORPHA:892weak
Pancytopenia2
cf:pancytopenia
- Fanconi anemiaPMID:41427685weak
- paroxysmal nocturnal hemoglobinuriaPMID:25237200weak
Papilledema2
cf:papilledema
- mucopolysaccharidosis type IIORPHA:580weak
- von Hippel-Lindau diseaseORPHA:892weak
Paraganglioma2
cf:paraganglioma
- hereditary pheochromocytoma-paragangliomaPMID:42503923weak
- von Hippel-Lindau diseaseORPHA:892weak
Paraganglioma of head and neck2
cf:paraganglioma_of_head_and_neck
- hereditary pheochromocytoma-paragangliomaPMID:41661399weak
- multiple endocrine neoplasia type 2ORPHA:653weak
Parkinsonism2
cf:parkinsonism
- 22q11.2 deletion syndromeORPHA:567weak
- multiple system atrophyPMID:26025783weak
Parotitis2
cf:parotitis
- Sjogren syndromeORPHA:289390weak
- sarcoidosisORPHA:797weak
Patellar dislocation2
cf:patellar_dislocation
- 22q11.2 deletion syndromeORPHA:567weak
- Williams syndromeORPHA:904weak
Peptic ulcer2
cf:peptic_ulcer
- Williams syndromeORPHA:904weak
- multiple endocrine neoplasia type 1ORPHA:652weak
Peritonitis2
cf:peritonitis
- familial Mediterranean feverPMID:42114813weak
- microscopic polyangiitisPMID:40033657weak
Persistent bleeding after trauma2
cf:persistent_bleeding_after_trauma
- hemophilia AOMIM:306700weak
- hemophilia BPMID:27011682weak
Photopsia2
cf:photopsia
- hemiplegic migrainePMID:37247170weak
- retinitis pigmentosaORPHA:791weak
Pituitary prolactin cell adenoma2
cf:pituitary_prolactin_cell_adenoma
- acromegalyORPHA:963weak
- multiple endocrine neoplasia type 1ORPHA:652weak
Polycystic kidney dysplasia2
cf:polycystic_kidney_dysplasia
- 22q11.2 deletion syndromeORPHA:567weak
- tuberous sclerosis complexORPHA:805weak
Polydipsia2
cf:polydipsia
- Erdheim-Chester diseaseORPHA:35687weak
- nephropathic cystinosisORPHA:411629weak
Poor appetite2
cf:poor_appetite
- familial Mediterranean feverORPHA:342weak
- microscopic polyangiitisPMID:10941351weak
Poor fine motor coordination2
cf:poor_fine_motor_coordination
- Friedreich ataxiaORPHA:95weak
- Prader-Willi syndromeOMIM:176270weak
Posterior embryotoxon2
cf:posterior_embryotoxon
- 22q11.2 deletion syndromeORPHA:567weak
- Williams syndromeORPHA:904weak
Primary hyperparathyroidism2
cf:primary_hyperparathyroidism
- multiple endocrine neoplasia type 1PMID:42140757weak
- multiple endocrine neoplasia type 2ORPHA:653weak
Progressive cerebellar ataxia2
cf:progressive_cerebellar_ataxia
- multiple system atrophyPMID:26025783weak
- spinocerebellar ataxia type 3PMID:40289053weak
Progressive spasticity2
cf:progressive_spasticity
- Krabbe diseaseOMIM:245200weak
- metachromatic leukodystrophyORPHA:512weak
Progressive visual loss2
cf:progressive_visual_loss
- Leber hereditary optic neuropathyPMID:32969847weak
- Usher syndromePMID:34331125weak
Prolonged prothrombin time2
cf:prolonged_prothrombin_time
- hemophilia BOMIM:306900weak
- primary sclerosing cholangitisORPHA:171weak
Prolonged QT interval2
cf:prolonged_qt_interval
- Turner syndromeORPHA:881weak
- long QT syndromePMID:41266879weak
Prominent supraorbital ridges2
cf:prominent_supraorbital_ridges
- acromegalyORPHA:963weak
- mucopolysaccharidosis type IIORPHA:580weak
Prostatitis2
cf:prostatitis
- alkaptonuriaPMID:31927521weak
- granulomatosis with polyangiitisORPHA:900weak
Protruding ear2
cf:protruding_ear
- Fragile X syndromePMID:9678703weak
- Williams syndromeORPHA:904weak
Proximal lower limb muscle weakness2
cf:proximal_lower_limb_muscle_weakness
- acute intermittent porphyriaORPHA:79276weak
- spinal muscular atrophyPMID:38972959weak
Pseudobulbar paralysis2
cf:pseudobulbar_paralysis
- acute intermittent porphyriaORPHA:79276weak
- amyotrophic lateral sclerosisPMID:40283201weak
Pulmonary lymphangiomyomatosis2
cf:pulmonary_lymphangiomyomatosis
- lymphangioleiomyomatosisPMID:16707400weak
- tuberous sclerosis complexORPHA:805weak
Pulmonic stenosis2
cf:pulmonic_stenosis
- Williams syndromeORPHA:904weak
- neurofibromatosis type 1OMIM:162200weak
Pure red cell aplasia2
cf:pure_red_cell_aplasia
- Diamond-Blackfan anemiaPMID:42269271weak
- myasthenia gravisORPHA:589weak
Pustule2
cf:pustule
- Behçet diseasePMID:22240504weak
- IgA vasculitisORPHA:761weak
Rachitic rosary2
cf:rachitic_rosary
- X-linked hypophosphatemiaORPHA:89936weak
- nephropathic cystinosisOMIM:219800weak
Rectal prolapse2
cf:rectal_prolapse
- Williams syndromeORPHA:904weak
- cystic fibrosisOMIM:219700weak
Recurrent bacterial infections2
cf:recurrent_bacterial_infections
- common variable immunodeficiencyPMID:14550517weak
- sickle cell diseasePMID:31308918weak
Recurrent bronchitis2
cf:recurrent_bronchitis
- Alport syndromeORPHA:63weak
- common variable immunodeficiencyOMIM:607594weak
Recurrent corneal erosions2
cf:recurrent_corneal_erosions
- Alport syndromeORPHA:63weak
- nephropathic cystinosisOMIM:219800weak
Recurrent infections2
cf:recurrent_infections
- 22q11.2 deletion syndromePMID:41730804weak
- sporadic Creutzfeldt-Jakob diseaseORPHA:204weak
Recurrent intrapulmonary hemorrhage2
cf:recurrent_intrapulmonary_hemorrhage
- eosinophilic granulomatosis with polyangiitisORPHA:183weak
- granulomatosis with polyangiitisORPHA:900weak
Recurrent sinusitis2
cf:recurrent_sinusitis
- 22q11.2 deletion syndromeOMIM:188400weak
- common variable immunodeficiencyOMIM:607594weak
Reduced factor VIII activity2
cf:reduced_factor_viii_activity
- hemophilia AOMIM:306700weak
- von Willebrand diseaseORPHA:903weak
Reduced forced vital capacity2
cf:reduced_forced_vital_capacity
- cystic fibrosisOMIM:219700weak
- idiopathic pulmonary fibrosisPMID:34233892weak
Reduced subcutaneous adipose tissue2
cf:reduced_subcutaneous_adipose_tissue
- Marfan syndromeOMIM:154700weak
- multiple endocrine neoplasia type 2ORPHA:653weak
Relative macrocephaly2
cf:relative_macrocephaly
- Hutchinson-Gilford progeria syndromeORPHA:740weak
- Silver-Russell syndromePMID:18159214weak
Renal agenesis2
cf:renal_agenesis
- Diamond-Blackfan anemiaORPHA:124weak
- Fanconi anemiaOMIM:227650weak
Renal angiomyolipoma2
cf:renal_angiomyolipoma
- lymphangioleiomyomatosisPMID:40214022weak
- tuberous sclerosis complexPMID:42265631weak
Renal artery stenosis2
cf:renal_artery_stenosis
- Williams syndromeOMIM:194050weak
- neurofibromatosis type 1OMIM:162200weak
Renal cyst2
cf:renal_cyst
- autosomal dominant polycystic kidney diseaseORPHA:730weak
- tuberous sclerosis complexORPHA:805weak
Renal hypoplasia/aplasia2
cf:renal_hypoplasia_aplasia
- Fanconi anemiaORPHA:84weak
- Turner syndromeORPHA:881weak
Renal salt wasting2
cf:renal_salt_wasting
- Addison diseaseORPHA:85138weak
- congenital adrenal hyperplasiaPMID:31821037weak
Renal tubular dysfunction2
cf:renal_tubular_dysfunction
- Wilson diseaseOMIM:277900weak
- nephropathic cystinosisORPHA:411629weak
Respiratory tract infection2
cf:respiratory_tract_infection
- primary ciliary dyskinesiaPMID:42026914weak
- tuberous sclerosis complexORPHA:805weak
Restlessness2
cf:restlessness
- acute intermittent porphyriaORPHA:79276weak
- narcolepsy type 1ORPHA:2073weak
Reticulocytopenia2
cf:reticulocytopenia
- Diamond-Blackfan anemiaORPHA:124weak
- Fanconi anemiaOMIM:227650weak
Retinal arteriolar tortuosity2
cf:retinal_arteriolar_tortuosity
- 22q11.2 deletion syndromeORPHA:567weak
- Williams syndromePMID:35760456weak
Retinal capillary hemangioma2
cf:retinal_capillary_hemangioma
- hereditary pheochromocytoma-paragangliomaORPHA:29072weak
- von Hippel-Lindau diseasePMID:42313274weak
Retinal telangiectasia2
cf:retinal_telangiectasia
- Leber hereditary optic neuropathyPMID:36061944weak
- hereditary hemorrhagic telangiectasiaORPHA:774weak
Rickets2
cf:rickets
- X-linked hypophosphatemiaPMID:41777640weak
- nephropathic cystinosisORPHA:411629weak
Rod-cone dystrophy2
cf:rod_cone_dystrophy
- Usher syndromePMID:38525684weak
- primary ciliary dyskinesiaORPHA:244weak
Scapular winging2
cf:scapular_winging
- facioscapulohumeral muscular dystrophyPMID:42226219weak
- limb-girdle muscular dystrophyOMIM:253600weak
Sea-blue histiocytosis2
cf:sea_blue_histiocytosis
- Niemann-Pick disease type COMIM:257220weak
- acid sphingomyelinase deficiencyOMIM:607616weak
Seborrheic dermatitis2
cf:seborrheic_dermatitis
- 22q11.2 deletion syndromeORPHA:567weak
- acromegalyORPHA:963weak
Segmental peripheral demyelination/remyelination2
cf:segmental_peripheral_demyelination_remye
- Charcot-Marie-Tooth disease type 1AOMIM:118220weak
- chronic inflammatory demyelinating polyneuropathyORPHA:2932weak
Sensory axonal neuropathy2
cf:sensory_axonal_neuropathy
- Friedreich ataxiaPMID:38751907weak
- polyarteritis nodosaORPHA:767weak
Sepsis2
cf:sepsis
- classic galactosemiaPMID:41746225weak
- sporadic Creutzfeldt-Jakob diseaseORPHA:204weak
Severe intellectual disability2
cf:severe_intellectual_disability
- Angelman syndromePMID:34203304weak
- myotonic dystrophy type 1OMIM:160900weak
Shagreen patch2
cf:shagreen_patch
- lymphangioleiomyomatosisORPHA:538weak
- tuberous sclerosis complexPMID:42265631weak
Short attention span2
cf:short_attention_span
- Williams syndromePMID:27273269weak
- multiple endocrine neoplasia type 1ORPHA:652weak
Short clavicles2
cf:short_clavicles
- Hutchinson-Gilford progeria syndromeORPHA:740weak
- mucopolysaccharidosis type IOMIM:607014weak
Short palpebral fissure2
cf:short_palpebral_fissure
- 22q11.2 deletion syndromeOMIM:188400weak
- Fanconi anemiaORPHA:84weak
Short thumb2
cf:short_thumb
- Diamond-Blackfan anemiaORPHA:124weak
- Fanconi anemiaOMIM:227650weak
Skin plaque2
cf:skin_plaque
- sarcoidosisPMID:38245372weak
- tuberous sclerosis complexORPHA:805weak
Sleep-wake cycle disturbance2
cf:sleep_wake_cycle_disturbance
- Angelman syndromePMID:42102304weak
- mucopolysaccharidosis type IIORPHA:580weak
Slurred speech2
cf:slurred_speech
- X-linked adrenoleukodystrophyOMIM:300100weak
- narcolepsy type 1ORPHA:2073weak
Spastic paraparesis2
cf:spastic_paraparesis
- Krabbe diseaseORPHA:487weak
- amyotrophic lateral sclerosisORPHA:803weak
Spastic paraplegia2
cf:spastic_paraplegia
- X-linked adrenoleukodystrophyOMIM:300100weak
- hereditary spastic paraplegiaPMID:41507865weak
Speech apraxia2
cf:speech_apraxia
- Niemann-Pick disease type CORPHA:646weak
- classic galactosemiaORPHA:79239weak
Spider hemangioma2
cf:spider_hemangioma
- autoimmune hepatitisORPHA:2137weak
- primary sclerosing cholangitisORPHA:171weak
Spina bifida occulta2
cf:spina_bifida_occulta
- Diamond-Blackfan anemiaOMIM:105650weak
- Williams syndromeORPHA:904weak
Spinal cord compression2
cf:spinal_cord_compression
- X-linked hypophosphatemiaPMID:42065796weak
- mucopolysaccharidosis type IIORPHA:580weak
Spontaneous pain sensation2
cf:spontaneous_pain_sensation
- chronic inflammatory demyelinating polyneuropathyORPHA:2932weak
- hemiplegic migrainePMID:42178246weak
Spontaneous, recurrent epistaxis2
cf:spontaneous_recurrent_epistaxis
- hemophilia BPMID:26914731weak
- hereditary hemorrhagic telangiectasiaPMID:41426769weak
Squamous cell carcinoma2
cf:squamous_cell_carcinoma
- Fanconi anemiaPMID:42196345weak
- epidermolysis bullosaPMID:36689495weak
Steatorrhea2
cf:steatorrhea
- cystic fibrosisOMIM:219700weak
- primary biliary cholangitisORPHA:186weak
Striae distensae2
cf:striae_distensae
- Loeys-Dietz syndromeORPHA:60030weak
- Marfan syndromeOMIM:154700weak
Stridor2
cf:stridor
- Alport syndromeORPHA:63weak
- multiple system atrophyPMID:24963676weak
Subarachnoid hemorrhage2
cf:subarachnoid_hemorrhage
- Pompe diseaseOMIM:232300weak
- hereditary hemorrhagic telangiectasiaORPHA:774weak
Sudden death2
cf:sudden_death
- Williams syndromeOMIM:194050weak
- hypertrophic cardiomyopathyOMIM:192600weak
Supraventricular tachycardia2
cf:supraventricular_tachycardia
- Brugada syndromePMID:41524999weak
- catecholaminergic polymorphic ventricular tachycardiaPMID:39918456weak
Synostosis of joints2
cf:synostosis_of_joints
- Williams syndromeORPHA:904weak
- fibrodysplasia ossificans progressivaPMID:39199396weak
Telangiectasia of the skin2
cf:telangiectasia_of_the_skin
- dermatomyositisORPHA:221weak
- hereditary hemorrhagic telangiectasiaPMID:42093807weak
Tendon rupture2
cf:tendon_rupture
- alkaptonuriaPMID:40071956weak
- transthyretin amyloidosisORPHA:271861weak
Testicular atrophy2
cf:testicular_atrophy
- hereditary hemochromatosisOMIM:235200weak
- myotonic dystrophy type 1OMIM:160900weak
Tetraplegia2
cf:tetraplegia
- Krabbe diseaseORPHA:487weak
- metachromatic leukodystrophyOMIM:250100weak
Thickened skin2
cf:thickened_skin
- acromegalyORPHA:963weak
- systemic sclerosisPMID:35131402weak
Thin skin2
cf:thin_skin
- Loeys-Dietz syndromeORPHA:60030weak
- osteogenesis imperfectaOMIM:166200weak
Thrombocytosis2
cf:thrombocytosis
- Diamond-Blackfan anemiaORPHA:124weak
- Kawasaki diseaseORPHA:2331weak
Tongue atrophy2
cf:tongue_atrophy
- amyotrophic lateral sclerosisORPHA:803weak
- myasthenia gravisORPHA:589weak
Tracheoesophageal fistula2
cf:tracheoesophageal_fistula
- Fanconi anemiaORPHA:84weak
- Williams syndromeORPHA:904weak
Tricuspid regurgitation2
cf:tricuspid_regurgitation
- Marfan syndromeOMIM:154700weak
- idiopathic pulmonary arterial hypertensionORPHA:275766weak
Triphalangeal thumb2
cf:triphalangeal_thumb
- Diamond-Blackfan anemiaORPHA:124weak
- Fanconi anemiaORPHA:84weak
Type I diabetes mellitus2
cf:type_i_diabetes_mellitus
- Addison diseaseORPHA:85138weak
- primary sclerosing cholangitisORPHA:171weak
Typified by somatic mosaicism2
cf:typified_by_somatic_mosaicism
- McCune-Albright syndromePMID:42006260weak
- lymphangioleiomyomatosisPMID:16707400weak
Ulcerative colitis2
cf:ulcerative_colitis
- autoimmune hepatitisORPHA:2137weak
- primary sclerosing cholangitisPMID:42084721weak
Unconjugated hyperbilirubinemia2
cf:unconjugated_hyperbilirubinemia
- G6PD deficiencyPMID:30295264weak
- paroxysmal nocturnal hemoglobinuriaORPHA:447weak
Ungual fibroma2
cf:ungual_fibroma
- lymphangioleiomyomatosisORPHA:538weak
- tuberous sclerosis complexPMID:34303387weak
Upper limb muscle weakness2
cf:upper_limb_muscle_weakness
- amyotrophic lateral sclerosisPMID:42113599weak
- von Hippel-Lindau diseaseORPHA:892weak
Upper motor neuron dysfunction2
cf:upper_motor_neuron_dysfunction
- Niemann-Pick disease type CORPHA:646weak
- sporadic Creutzfeldt-Jakob diseaseORPHA:204weak
Urinary glycosaminoglycan excretion2
cf:urinary_glycosaminoglycan_excretion
- mucopolysaccharidosis type IOMIM:607014weak
- mucopolysaccharidosis type IIPMID:18245410weak
Urinary retention2
cf:urinary_retention
- acute intermittent porphyriaORPHA:79276weak
- transthyretin amyloidosisORPHA:271861weak
Urinary urgency2
cf:urinary_urgency
- Friedreich ataxiaORPHA:95weak
- hereditary spastic paraplegiaOMIM:182601weak
Usual interstitial pneumonia2
cf:usual_interstitial_pneumonia
- Sjogren syndromeORPHA:289390weak
- idiopathic pulmonary fibrosisPMID:22415624weak
Variable expressivity2
cf:variable_expressivity
- Charcot-Marie-Tooth disease type 1AOMIM:118220weak
- hereditary spastic paraplegiaOMIM:182601weak
Vascular dilatation2
cf:vascular_dilatation
- Loeys-Dietz syndromeORPHA:60030weak
- systemic sclerosisORPHA:90291weak
Ventricular hypertrophy2
cf:ventricular_hypertrophy
- Hutchinson-Gilford progeria syndromeORPHA:740weak
- hypertrophic cardiomyopathyPMID:40993768weak
Vertical supranuclear gaze palsy2
cf:vertical_supranuclear_gaze_palsy
- Niemann-Pick disease type CPMID:33892845weak
- progressive supranuclear palsyPMID:39634776weak
Visceral angiomatosis2
cf:visceral_angiomatosis
- Sturge-Weber syndromeORPHA:3205weak
- hereditary hemorrhagic telangiectasiaORPHA:774weak
Visual hallucination2
cf:visual_hallucination
- Niemann-Pick disease type CORPHA:646weak
- sporadic Creutzfeldt-Jakob diseasePMID:36680361weak
Wheezing2
cf:wheezing
- alpha-1 antitrypsin deficiencyPMID:24267358weak
- primary ciliary dyskinesiaORPHA:244weak
Wide mouth2
cf:wide_mouth
- Angelman syndromeOMIM:105830weak
- Williams syndromeORPHA:904weak
Wide nose2
cf:wide_nose
- acromegalyORPHA:963weak
- mucopolysaccharidosis type IIORPHA:580weak
Wrist drop2
cf:wrist_drop
- neurofibromatosis type 2ORPHA:637weak
- transthyretin amyloidosisORPHA:271861weak
X-linked dominant inheritance2
cf:x_linked_dominant_inheritance
- Alport syndromeOMIM:301050weak
- G6PD deficiencyOMIM:300908weak
Modifier5
autosomal recessive inheritance3
modifier:autosomal_recessive_inheritance
- Gaucher diseasePMID:28218669weak
- maple syrup urine diseasePMID:41450887weak
- spinal muscular atrophyPMID:42105903weak
Autosomal dominant inheritance2
modifier:autosomal_dominant_inheritance
also labelled: autosomal dominant inheritance
- Huntington diseasePMID:27188817weak
- hemiplegic migrainePMID:42178246weak
incomplete penetrance2
modifier:incomplete_penetrance
- Leber hereditary optic neuropathyPMID:17460303weak
- hereditary hemochromatosisPMID:24319245weak
mosaicism2
modifier:mosaicism
- Klinefelter syndromePMID:41383570weak
- Turner syndromePMID:40642882weak
variable expressivity2
modifier:variable_expressivity
- 22q11.2 deletion syndromePMID:33707356weak
- Williams syndromePMID:30155880weak
