Human Phenotype Ontology 
Grandparent Node:
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Abnormality of skin morphology (HP:0011121)help
Parent Node:
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Localized skin lesion (HP:0011355)help
..Starting node
..expand
Skin nodule (HP:0200036)help
Term ID: 200036
Name: Skin nodule
Synonym: Growth of abnormal tissue on or under the skin
Definition: Morphologically similar to a papule, but greater than either 10mm in both width and depth, and most frequently centered in the dermis or subcutaneous fat.
Comments:
Reference: HP:0200036
Genes and Diseases:
 
       Child Nodes:
........expandSubcutaneous nodule (HP:0001482) help
................... HP:0007470 Periarticular subcutaneous nodules
................... HP:0025014 Subcutaneous spheroids
........expandNodular changes affecting the eyelids (HP:0010732) help
................... HP:0001114 Xanthelasma
................... HP:0010604 Cyst of the eyelid
................... HP:0010606 Hordeolum
........expandOsteoma cutis (HP:0025027) help
........expandUmbilicated nodule (HP:0025103) help
........expandHyperpigmented nodule (HP:0025529) help
........expandYellow nodule (HP:0025554) help
........expandAcrokeratosis (HP:0200016) help

 Sister Nodes: 
..expandAbnormal perifollicular morphology (HP:0031285) help
..expandAnnular cutaneous lesion (HP:0025528) help
..expandAplasia/Hypoplasia of the skin (HP:0008065) help
..expandAtypical scarring of skin (HP:0000987) help
..expandCafe-au-lait spot (HP:0000957) help
..expandCapillary malformation (HP:0025104) help
..expandComedo (HP:0025249) help
..expandCutaneous cyst (HP:0025245) help
..expandHypopigmented skin patches (HP:0001053) help
..expandLichenoid skin lesion (HP:0031452) help
..expandMacule (HP:0012733) help
..expandMilia (HP:0001056) help
..expandMolluscoid pseudotumors (HP:0000993) help
..expandNevus (HP:0003764) help
..expandPapule (HP:0200034) help
..expandSerpiginous cutaneous lesion (HP:0025527) help
..expandSkin dimple (HP:0010781) help
..expandSkin erosion (HP:0200041) help
..expandSkin fissure (HP:0031057) help
..expandSkin pit (HP:0100276) help
..expandSkin plaque (HP:0200035) help
..expandSkin tags (HP:0010609) help
..expandSkin ulcer (HP:0200042) help
..expandSkin vesicle (HP:0200037) help
..expandXanthomatosis (HP:0000991) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0200036HP:0200036Skin nodule0ABCA1 CL E G H1929ORPHA:425Apolipoprotein A-I deficiency191
HP:0200036HP:0200036Skin nodule0ABCC6 CL E G H36857ORPHA:758Pseudoxanthoma elasticum415
HP:0200036HP:0200036Skin nodule0ABCG8 CL E G H6424113887OMIM:210250Sitosterolemia 176
HP:0200036HP:0200036Skin nodule0ACVR1 CL E G H90171ORPHA:337Fibrodysplasia ossificans progressiva49
HP:0200036HP:0200036Skin nodule0AKT1 CL E G H207391ORPHA:201Cowden syndrome54
HP:0200036HP:0200036Skin nodule0AKT1 CL E G H207391ORPHA:744Proteus syndrome54
HP:0200036HP:0200036Skin nodule0ANTXR2 CL E G H11842921732OMIM:228600Hyaline fibromatosis syndrome49
HP:0200036HP:0200036Skin nodule0ANTXR2 CL E G H11842921732ORPHA:2176Infantile systemic hyalinosis49
HP:0200036HP:0200036Skin nodule0ANTXR2 CL E G H11842921732ORPHA:2028Juvenile hyaline fibromatosis49
HP:0200036HP:0200036Skin nodule0APC CL E G H324583ORPHA:873Desmoid tumor3179
HP:0200036HP:0200036Skin nodule0APOA1 CL E G H335600ORPHA:425Apolipoprotein A-I deficiency40
HP:0200036HP:0200036Skin nodule0APOA2 CL E G H336601OMIM:143890Hypercholesterolemia, familial, 19
HP:0200036HP:0200036Skin nodule0APOB CL E G H338603OMIM:144010Hypercholesterolemia, familial, 2356
HP:0200036HP:0200036Skin nodule0APOE CL E G H348613ORPHA:412Dysbetalipoproteinemia39
HP:0200036HP:0200036Skin nodule0APOE CL E G H348613ORPHA:158029Sea-blue histiocytosis39
HP:0200036HP:0200036Skin nodule0ASAH1 CL E G H427735ORPHA:333Farber disease78
HP:0200036HP:0200036Skin nodule0ASAH1 CL E G H427735OMIM:228000Farber lipogranulomatosis78
HP:0200036HP:0200036Skin nodule0ATP2A2 CL E G H488812OMIM:101900Acrokeratosis verruciformis86
HP:0200036HP:0200036Skin nodule0ATP2A2 CL E G H488812ORPHA:218Darier disease86
HP:0200036HP:0200036Skin nodule0ATP2A2 CL E G H488812OMIM:124200Darier-White disease86
HP:0200036HP:0200036Skin nodule0B2M CL E G H567914OMIM:241600Immunodeficiency 438
HP:0200036HP:0200036Skin nodule0BCL2 CL E G H596990ORPHA:545Follicular lymphomaHP:0040283 - Occasional1
HP:0200036HP:0200036Skin nodule0BCL6 CL E G H6041001ORPHA:545Follicular lymphomaHP:0040283 - Occasional1
HP:0200036HP:0200036Skin nodule0BRAF CL E G H6731097ORPHA:500Noonan syndrome with multiple lentigines276
HP:0200036HP:0200036Skin nodule0BRAF CL E G H6731097ORPHA:840Syringocystadenoma papilliferum276
HP:0200036HP:0200036Skin nodule0BTNL2 CL E G H562441142ORPHA:797SarcoidosisHP:0040282 - Frequent1
HP:0200036HP:0200036Skin nodule0C4A CL E G H7201323ORPHA:117Behçet disease1
HP:0200036HP:0200036Skin nodule0CCR1 CL E G H12301602ORPHA:117Behçet disease
HP:0200036HP:0200036Skin nodule0CDK4 CL E G H10191773ORPHA:99971Well-differentiated liposarcoma145
HP:0200036HP:0200036Skin nodule0COL1A1 CL E G H12772197ORPHA:287Classical Ehlers-Danlos syndrome373
HP:0200036HP:0200036Skin nodule0COL1A1 CL E G H12772197ORPHA:31112Dermatofibrosarcoma protuberans373
HP:0200036HP:0200036Skin nodule0COL3A1 CL E G H12812201ORPHA:286Vascular Ehlers-Danlos syndrome749
HP:0200036HP:0200036Skin nodule0COL5A1 CL E G H12892209ORPHA:287Classical Ehlers-Danlos syndrome660
HP:0200036HP:0200036Skin nodule0COL5A1 CL E G H12892209OMIM:130000Ehlers-danlos syndrome, type I660
HP:0200036HP:0200036Skin nodule0COL5A2 CL E G H12902210ORPHA:287Classical Ehlers-Danlos syndrome325
HP:0200036HP:0200036Skin nodule0COL5A2 CL E G H12902210OMIM:130010Ehlers-Danlos syndrome, classic type, 2325
HP:0200036HP:0200036Skin nodule0COL7A1 CL E G H12942214ORPHA:89843Dystrophic epidermolysis bullosa pruriginosa263
HP:0200036HP:0200036Skin nodule0CTNNB1 CL E G H14992514ORPHA:873Desmoid tumor88
HP:0200036HP:0200036Skin nodule0CTNNB1 CL E G H14992514ORPHA:91414Pilomatrixoma88
HP:0200036HP:0200036Skin nodule0CYLD CL E G H15402584ORPHA:211Familial cylindromatosis126
HP:0200036HP:0200036Skin nodule0CYLD CL E G H15402584ORPHA:867Familial multiple trichoepithelioma126
HP:0200036HP:0200036Skin nodule0CYP27A1 CL E G H15932605OMIM:213700Cerebrotendinous xanthomatosis114
HP:0200036HP:0200036Skin nodule0DACT1 CL E G H5133917748ORPHA:857Townes-Brocks syndrome2
HP:0200036HP:0200036Skin nodule0DDIT3 CL E G H16492726ORPHA:99967Myxoid/round cell liposarcoma
HP:0200036HP:0200036Skin nodule0ECM1 CL E G H18933153ORPHA:530Lipoid proteinosis14
HP:0200036HP:0200036Skin nodule0ENPP1 CL E G H51673356ORPHA:758Pseudoxanthoma elasticum151
HP:0200036HP:0200036Skin nodule0EPHX2 CL E G H20533402OMIM:143890Hypercholesterolemia, familial, 11
HP:0200036HP:0200036Skin nodule0ERAP1 CL E G H5175218173ORPHA:117Behçet disease1
HP:0200036HP:0200036Skin nodule0FAS CL E G H35511920ORPHA:117Behçet disease59
HP:0200036HP:0200036Skin nodule0FBN1 CL E G H22003603ORPHA:2833Stiff skin syndrome1361
HP:0200036HP:0200036Skin nodule0FERMT3 CL E G H8370623151OMIM:612840Leukocyte adhesion deficiency, type III23
HP:0200036HP:0200036Skin nodule0FGFR1 CL E G H22603688ORPHA:2396Encephalocraniocutaneous lipomatosis172
HP:0200036HP:0200036Skin nodule0FGFR2 CL E G H22633689ORPHA:1555Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome175
HP:0200036HP:0200036Skin nodule0FUS CL E G H25214010ORPHA:99967Myxoid/round cell liposarcoma105
HP:0200036HP:0200036Skin nodule0G6PC1 CL E G H25384056OMIM:232200Glycogen storage disease ia
HP:0200036HP:0200036Skin nodule0GHR CL E G H26904263OMIM:143890Hypercholesterolemia, familial, 198
HP:0200036HP:0200036Skin nodule0GJB2 CL E G H27064284ORPHA:477KID syndrome199
HP:0200036HP:0200036Skin nodule0GJB6 CL E G H108044288ORPHA:477KID syndrome56
HP:0200036HP:0200036Skin nodule0GLA CL E G H27174296ORPHA:324Fabry disease291
HP:0200036HP:0200036Skin nodule0GLMN CL E G H1114614373ORPHA:83454Glomuvenous malformationHP:0040282 - Frequent37
HP:0200036HP:0200036Skin nodule0GLS CL E G H27444331OMIM:618339Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development
HP:0200036HP:0200036Skin nodule0GNAS CL E G H27784392OMIM:166350Osseous heteroplasia, progressive101
HP:0200036HP:0200036Skin nodule0GNAS CL E G H27784392ORPHA:2762Progressive osseous heteroplasia101
HP:0200036HP:0200036Skin nodule0GNAS CL E G H27784392ORPHA:79443Pseudohypoparathyroidism type 1A101
HP:0200036HP:0200036Skin nodule0GNAS CL E G H27784392ORPHA:79444Pseudohypoparathyroidism type 1C101
HP:0200036HP:0200036Skin nodule0GNAS CL E G H27784392ORPHA:79445Pseudopseudohypoparathyroidism101
HP:0200036HP:0200036Skin nodule0HLA-B CL E G H31064932ORPHA:117Behçet disease4
HP:0200036HP:0200036Skin nodule0HLA-B CL E G H31064932ORPHA:3287Takayasu arteritis4
HP:0200036HP:0200036Skin nodule0HLA-DRB1 CL E G H31234948ORPHA:545Follicular lymphomaHP:0040283 - Occasional2
HP:0200036HP:0200036Skin nodule0HLA-DRB1 CL E G H31234948ORPHA:797SarcoidosisHP:0040282 - Frequent2
HP:0200036HP:0200036Skin nodule0HMGA2 CL E G H80915009ORPHA:9406312q14 microdeletion syndrome2
HP:0200036HP:0200036Skin nodule0HMGA2 CL E G H80915009ORPHA:99971Well-differentiated liposarcoma2
HP:0200036HP:0200036Skin nodule0IARS2 CL E G H5569929685ORPHA:436174Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome25
HP:0200036HP:0200036Skin nodule0IDH1 CL E G H34175382ORPHA:163634Maffucci syndrome15
HP:0200036HP:0200036Skin nodule0IDH1 CL E G H34175382ORPHA:296Ollier disease15
HP:0200036HP:0200036Skin nodule0IDH2 CL E G H34185383ORPHA:163634Maffucci syndrome29
HP:0200036HP:0200036Skin nodule0IDH2 CL E G H34185383ORPHA:296Ollier disease29
HP:0200036HP:0200036Skin nodule0IFNG CL E G H34585438OMIM:613254Tuberous sclerosis-223
HP:0200036HP:0200036Skin nodule0IFNGR1 CL E G H34595439ORPHA:117Behçet disease60
HP:0200036HP:0200036Skin nodule0IGH CL E G H34925477ORPHA:545Follicular lymphomaHP:0040283 - Occasional7
HP:0200036HP:0200036Skin nodule0IL10 CL E G H35865962ORPHA:117Behçet disease2
HP:0200036HP:0200036Skin nodule0IL12A CL E G H35925969ORPHA:117Behçet disease
HP:0200036HP:0200036Skin nodule0IL12A-AS1 CL E G H10192837649094ORPHA:117Behçet disease
HP:0200036HP:0200036Skin nodule0IL12B CL E G H35935970ORPHA:3287Takayasu arteritis31
HP:0200036HP:0200036Skin nodule0IL23R CL E G H14923319100ORPHA:117Behçet disease1
HP:0200036HP:0200036Skin nodule0INSR CL E G H36436091ORPHA:2297Insulin-resistance syndrome type A229
HP:0200036HP:0200036Skin nodule0KIF11 CL E G H38326388ORPHA:2526Microcephaly-lymphedema-chorioretinopathy syndrome46
HP:0200036HP:0200036Skin nodule0KIF1B CL E G H2309516636OMIM:256700Neuroblastoma, susceptibility to.202
HP:0200036HP:0200036Skin nodule0KIT CL E G H38156342ORPHA:79455Cutaneous mastocytoma327
HP:0200036HP:0200036Skin nodule0KLLN CL E G H10014474837212ORPHA:201Cowden syndrome1
HP:0200036HP:0200036Skin nodule0KLRC4 CL E G H83026377ORPHA:117Behçet disease
HP:0200036HP:0200036Skin nodule0KRAS CL E G H38456407ORPHA:2396Encephalocraniocutaneous lipomatosis196
HP:0200036HP:0200036Skin nodule0LDLR CL E G H39496547OMIM:143890Hypercholesterolemia, familial, 12157
HP:0200036HP:0200036Skin nodule0LEMD3 CL E G H2359228887ORPHA:9406312q14 microdeletion syndrome68
HP:0200036HP:0200036Skin nodule0LEMD3 CL E G H2359228887ORPHA:1306Buschke-Ollendorff syndrome68
HP:0200036HP:0200036Skin nodule0LEMD3 CL E G H2359228887ORPHA:1879Melorheostosis with osteopoikilosis68
HP:0200036HP:0200036Skin nodule0LPL CL E G H40236677OMIM:144250Hyperlipidemia, familial combined, 3106
HP:0200036HP:0200036Skin nodule0MC1R CL E G H41576929ORPHA:626Large congenital melanocytic nevus124
HP:0200036HP:0200036Skin nodule0MDM2 CL E G H41936973ORPHA:99971Well-differentiated liposarcoma1
HP:0200036HP:0200036Skin nodule0MEFV CL E G H42106998ORPHA:117Behçet disease281
HP:0200036HP:0200036Skin nodule0MEFV CL E G H42106998ORPHA:3243Sweet syndromeHP:0040281 - Very frequent281
HP:0200036HP:0200036Skin nodule0MLX CL E G H694511645ORPHA:3287Takayasu arteritis
HP:0200036HP:0200036Skin nodule0MMP14 CL E G H43237160ORPHA:371428Multicentric osteolysis-nodulosis-arthropathy spectrum2
HP:0200036HP:0200036Skin nodule0MMP2 CL E G H43137166OMIM:259600Multicentric osteolysis, nodulosis, and arthropathy64
HP:0200036HP:0200036Skin nodule0MMP2 CL E G H43137166ORPHA:371428Multicentric osteolysis-nodulosis-arthropathy spectrum64
HP:0200036HP:0200036Skin nodule0MYSM1 CL E G H11480329401ORPHA:508542Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
HP:0200036HP:0200036Skin nodule0NAGA CL E G H46687631ORPHA:79280Alpha-N-acetylgalactosaminidase deficiency type 247
HP:0200036HP:0200036Skin nodule0NOTCH3 CL E G H48547883ORPHA:2591Infantile myofibromatosis144
HP:0200036HP:0200036Skin nodule0NRAS CL E G H48937989ORPHA:626Large congenital melanocytic nevus102
HP:0200036HP:0200036Skin nodule0OCRL CL E G H49528108OMIM:309000Lowe syndrome88
HP:0200036HP:0200036Skin nodule0PCSK9 CL E G H25573820001OMIM:603776HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3; HCHOLA3178
HP:0200036HP:0200036Skin nodule0PDE11A CL E G H509408773ORPHA:1359Carney complex13
HP:0200036HP:0200036Skin nodule0PDGFB CL E G H51558800ORPHA:31112Dermatofibrosarcoma protuberans9
HP:0200036HP:0200036Skin nodule0PDGFRB CL E G H51598804ORPHA:2591Infantile myofibromatosis28
HP:0200036HP:0200036Skin nodule0PIK3CA CL E G H52908975ORPHA:201Cowden syndrome162
HP:0200036HP:0200036Skin nodule0POMP CL E G H5137120330OMIM:618048Proteasome-Associated autoinflammatory syndrome 22
HP:0200036HP:0200036Skin nodule0PORCN CL E G H6484017652ORPHA:2092Focal dermal hypoplasiaHP:0040282 - Frequent20
HP:0200036HP:0200036Skin nodule0PPP1R17 CL E G H1084216973OMIM:143890Hypercholesterolemia, familial, 12
HP:0200036HP:0200036Skin nodule0PRKAR1A CL E G H55739388ORPHA:1359Carney complex134
HP:0200036HP:0200036Skin nodule0PTEN CL E G H57289588ORPHA:109Bannayan-Riley-Ruvalcaba syndrome948
HP:0200036HP:0200036Skin nodule0PTEN CL E G H57289588ORPHA:201Cowden syndrome948
HP:0200036HP:0200036Skin nodule0PTEN CL E G H57289588OMIM:158350Cowden syndrome 1948
HP:0200036HP:0200036Skin nodule0PTEN CL E G H57289588ORPHA:65285Lhermitte-Duclos disease948
HP:0200036HP:0200036Skin nodule0PTEN CL E G H57289588ORPHA:744Proteus syndrome948
HP:0200036HP:0200036Skin nodule0PTEN CL E G H57289588ORPHA:137608Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome948
HP:0200036HP:0200036Skin nodule0PTH1R CL E G H57459608ORPHA:296Ollier disease58
HP:0200036HP:0200036Skin nodule0PTPN11 CL E G H57819644ORPHA:500Noonan syndrome with multiple lentigines291
HP:0200036HP:0200036Skin nodule0RAF1 CL E G H58949829ORPHA:500Noonan syndrome with multiple lentigines212
HP:0200036HP:0200036Skin nodule0SALL1 CL E G H629910524ORPHA:857Townes-Brocks syndrome124
HP:0200036HP:0200036Skin nodule0SDHB CL E G H639010681ORPHA:201Cowden syndrome237
HP:0200036HP:0200036Skin nodule0SDHC CL E G H639110682ORPHA:201Cowden syndrome147
HP:0200036HP:0200036Skin nodule0SDHD CL E G H639210683ORPHA:201Cowden syndrome129
HP:0200036HP:0200036Skin nodule0SEC23B CL E G H1048310702ORPHA:201Cowden syndrome60
HP:0200036HP:0200036Skin nodule0SLC37A4 CL E G H25424061ORPHA:79259Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib110
HP:0200036HP:0200036Skin nodule0SLC37A4 CL E G H25424061OMIM:232220Glycogen storage disease ib110
HP:0200036HP:0200036Skin nodule0SLC37A4 CL E G H25424061OMIM:232240GLYCOGEN STORAGE DISEASE Ic110
HP:0200036HP:0200036Skin nodule0SPRED1 CL E G H16174220249ORPHA:137605Legius syndrome136
HP:0200036HP:0200036Skin nodule0STAT4 CL E G H677511365ORPHA:117Behçet disease2
HP:0200036HP:0200036Skin nodule0TEK CL E G H701011724ORPHA:1059Blue rubber bleb nevus78
HP:0200036HP:0200036Skin nodule0TLR4 CL E G H709911850ORPHA:117Behçet disease3
HP:0200036HP:0200036Skin nodule0TNFRSF11A CL E G H879211908ORPHA:2801Juvenile Paget disease72
HP:0200036HP:0200036Skin nodule0TNFRSF11B CL E G H498211909ORPHA:2801Juvenile Paget disease44
HP:0200036HP:0200036Skin nodule0TSC1 CL E G H724812362OMIM:191100Tuberous sclerosis-11090
HP:0200036HP:0200036Skin nodule0TSC2 CL E G H724912363OMIM:613254Tuberous sclerosis-22738
HP:0200036HP:0200036Skin nodule0TTPA CL E G H727412404OMIM:277460VITAMIN E, FAMILIAL ISOLATED DEFICIENCY OF62
HP:0200036HP:0200036Skin nodule0UBAC2 CL E G H33786720486ORPHA:117Behçet disease
HP:0200036HP:0200036Skin nodule0USF3 CL E G H20571730494ORPHA:201Cowden syndrome1
HP:0200036HP:0032217Indurated nodule1 CL E G H
HP:0200036HP:0025554Yellow nodule1 CL E G H
HP:0200036HP:0025529Hyperpigmented nodule1 CL E G H
HP:0200036HP:0025103Umbilicated nodule1 CL E G H
HP:0200036HP:0010732Nodular changes affecting the eyelids1ABCA1 CL E G H1929ORPHA:425Apolipoprotein A-I deficiency191
HP:0200036HP:0001482Subcutaneous nodule1ABCC6 CL E G H36857ORPHA:758Pseudoxanthoma elasticumHP:0040283 - Occasional415
HP:0200036HP:0010732Nodular changes affecting the eyelids1ABCG8 CL E G H6424113887OMIM:210250Sitosterolemia 176
HP:0200036HP:0001482Subcutaneous nodule1ACVR1 CL E G H90171ORPHA:337Fibrodysplasia ossificans progressivaHP:0040281 - Very frequent49
HP:0200036HP:0001482Subcutaneous nodule1AKT1 CL E G H207391ORPHA:201Cowden syndromeHP:0040282 - Frequent54
HP:0200036HP:0001482Subcutaneous nodule1AKT1 CL E G H207391ORPHA:744Proteus syndromeHP:0040281 - Very frequent54
HP:0200036HP:0001482Subcutaneous nodule1ANTXR2 CL E G H11842921732OMIM:228600Hyaline fibromatosis syndrome49
HP:0200036HP:0001482Subcutaneous nodule1ANTXR2 CL E G H11842921732ORPHA:2176Infantile systemic hyalinosisHP:0040281 - Very frequent49
HP:0200036HP:0001482Subcutaneous nodule1ANTXR2 CL E G H11842921732ORPHA:2028Juvenile hyaline fibromatosisHP:0040281 - Very frequent49
HP:0200036HP:0001482Subcutaneous nodule1APC CL E G H324583ORPHA:873Desmoid tumorHP:0040281 - Very frequent3179
HP:0200036HP:0010732Nodular changes affecting the eyelids1APOA1 CL E G H335600ORPHA:425Apolipoprotein A-I deficiency40
HP:0200036HP:0010732Nodular changes affecting the eyelids1APOA2 CL E G H336601OMIM:143890Hypercholesterolemia, familial, 19
HP:0200036HP:0010732Nodular changes affecting the eyelids1APOB CL E G H338603OMIM:144010Hypercholesterolemia, familial, 2356
HP:0200036HP:0010732Nodular changes affecting the eyelids1APOE CL E G H348613ORPHA:412Dysbetalipoproteinemia39
HP:0200036HP:0001482Subcutaneous nodule1APOE CL E G H348613ORPHA:158029Sea-blue histiocytosisHP:0040281 - Very frequent39
HP:0200036HP:0001482Subcutaneous nodule1ASAH1 CL E G H427735ORPHA:333Farber disease78
HP:0200036HP:0001482Subcutaneous nodule1ASAH1 CL E G H427735OMIM:228000Farber lipogranulomatosis78
HP:0200036HP:0200016Acrokeratosis1ATP2A2 CL E G H488812OMIM:101900Acrokeratosis verruciformis.86
HP:0200036HP:0200016Acrokeratosis1ATP2A2 CL E G H488812ORPHA:218Darier diseaseHP:0040281 - Very frequent86
HP:0200036HP:0200016Acrokeratosis1ATP2A2 CL E G H488812OMIM:124200Darier-White disease.86
HP:0200036HP:0001482Subcutaneous nodule1B2M CL E G H567914OMIM:241600Immunodeficiency 438
HP:0200036HP:0001482Subcutaneous nodule1BRAF CL E G H6731097ORPHA:500Noonan syndrome with multiple lentiginesHP:0040283 - Occasional276
HP:0200036HP:0001482Subcutaneous nodule1BRAF CL E G H6731097ORPHA:840Syringocystadenoma papilliferumHP:0040281 - Very frequent276
HP:0200036HP:0001482Subcutaneous nodule1BTNL2 CL E G H562441142ORPHA:797SarcoidosisHP:0040283 - Occasional1
HP:0200036HP:0001482Subcutaneous nodule1C4A CL E G H7201323ORPHA:117Behçet diseaseHP:0040281 - Very frequent1
HP:0200036HP:0001482Subcutaneous nodule1CCR1 CL E G H12301602ORPHA:117Behçet diseaseHP:0040281 - Very frequent
HP:0200036HP:0001482Subcutaneous nodule1CDK4 CL E G H10191773ORPHA:99971Well-differentiated liposarcomaHP:0040281 - Very frequent145
HP:0200036HP:0001482Subcutaneous nodule1COL1A1 CL E G H12772197ORPHA:287Classical Ehlers-Danlos syndrome373
HP:0200036HP:0001482Subcutaneous nodule1COL1A1 CL E G H12772197ORPHA:31112Dermatofibrosarcoma protuberansHP:0040281 - Very frequent373
HP:0200036HP:0001482Subcutaneous nodule1COL3A1 CL E G H12812201ORPHA:286Vascular Ehlers-Danlos syndromeHP:0040283 - Occasional749
HP:0200036HP:0001482Subcutaneous nodule1COL5A1 CL E G H12892209ORPHA:287Classical Ehlers-Danlos syndrome660
HP:0200036HP:0001482Subcutaneous nodule1COL5A1 CL E G H12892209OMIM:130000Ehlers-danlos syndrome, type I660
HP:0200036HP:0001482Subcutaneous nodule1COL5A2 CL E G H12902210ORPHA:287Classical Ehlers-Danlos syndrome325
HP:0200036HP:0001482Subcutaneous nodule1COL5A2 CL E G H12902210OMIM:130010Ehlers-Danlos syndrome, classic type, 2325
HP:0200036HP:0001482Subcutaneous nodule1COL7A1 CL E G H12942214ORPHA:89843Dystrophic epidermolysis bullosa pruriginosaHP:0040283 - Occasional263
HP:0200036HP:0001482Subcutaneous nodule1CTNNB1 CL E G H14992514ORPHA:873Desmoid tumorHP:0040281 - Very frequent88
HP:0200036HP:0001482Subcutaneous nodule1CTNNB1 CL E G H14992514ORPHA:91414Pilomatrixoma88
HP:0200036HP:0001482Subcutaneous nodule1CYLD CL E G H15402584ORPHA:211Familial cylindromatosisHP:0040281 - Very frequent126
HP:0200036HP:0001482Subcutaneous nodule1CYLD CL E G H15402584ORPHA:867Familial multiple trichoepitheliomaHP:0040281 - Very frequent126
HP:0200036HP:0010732Nodular changes affecting the eyelids1CYP27A1 CL E G H15932605OMIM:213700Cerebrotendinous xanthomatosis114
HP:0200036HP:0001482Subcutaneous nodule1DACT1 CL E G H5133917748ORPHA:857Townes-Brocks syndromeHP:0040282 - Frequent2
HP:0200036HP:0001482Subcutaneous nodule1DDIT3 CL E G H16492726ORPHA:99967Myxoid/round cell liposarcomaHP:0040281 - Very frequent
HP:0200036HP:0001482Subcutaneous nodule1ECM1 CL E G H18933153ORPHA:530Lipoid proteinosisHP:0040281 - Very frequent14
HP:0200036HP:0001482Subcutaneous nodule1ENPP1 CL E G H51673356ORPHA:758Pseudoxanthoma elasticumHP:0040283 - Occasional151
HP:0200036HP:0010732Nodular changes affecting the eyelids1EPHX2 CL E G H20533402OMIM:143890Hypercholesterolemia, familial, 11
HP:0200036HP:0001482Subcutaneous nodule1ERAP1 CL E G H5175218173ORPHA:117Behçet diseaseHP:0040281 - Very frequent1
HP:0200036HP:0001482Subcutaneous nodule1FAS CL E G H35511920ORPHA:117Behçet diseaseHP:0040281 - Very frequent59
HP:0200036HP:0001482Subcutaneous nodule1FBN1 CL E G H22003603ORPHA:2833Stiff skin syndromeHP:0040283 - Occasional1361
HP:0200036HP:0001482Subcutaneous nodule1FERMT3 CL E G H8370623151OMIM:612840Leukocyte adhesion deficiency, type III23
HP:0200036HP:0001482Subcutaneous nodule1FGFR1 CL E G H22603688ORPHA:2396Encephalocraniocutaneous lipomatosisHP:0040281 - Very frequent172
HP:0200036HP:0001482Subcutaneous nodule1FGFR2 CL E G H22633689ORPHA:1555Cutis gyrata-acanthosis nigricans-craniosynostosis syndromeHP:0040281 - Very frequent175
HP:0200036HP:0001482Subcutaneous nodule1FUS CL E G H25214010ORPHA:99967Myxoid/round cell liposarcomaHP:0040281 - Very frequent105
HP:0200036HP:0010732Nodular changes affecting the eyelids1G6PC1 CL E G H25384056OMIM:232200Glycogen storage disease ia
HP:0200036HP:0010732Nodular changes affecting the eyelids1GHR CL E G H26904263OMIM:143890Hypercholesterolemia, familial, 198
HP:0200036HP:0001482Subcutaneous nodule1GLA CL E G H27174296ORPHA:324Fabry diseaseHP:0040281 - Very frequent291
HP:0200036HP:0001482Subcutaneous nodule1GLS CL E G H27444331OMIM:618339Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development
HP:0200036HP:0025027Osteoma cutis1GNAS CL E G H27784392OMIM:166350Osseous heteroplasia, progressive.101
HP:0200036HP:0001482Subcutaneous nodule1GNAS CL E G H27784392ORPHA:2762Progressive osseous heteroplasiaHP:0040281 - Very frequent101
HP:0200036HP:0025027Osteoma cutis1GNAS CL E G H27784392ORPHA:79443Pseudohypoparathyroidism type 1AHP:0040283 - Occasional101
HP:0200036HP:0025027Osteoma cutis1GNAS CL E G H27784392ORPHA:79444Pseudohypoparathyroidism type 1CHP:0040283 - Occasional101
HP:0200036HP:0025027Osteoma cutis1GNAS CL E G H27784392ORPHA:79445PseudopseudohypoparathyroidismHP:0040283 - Occasional101
HP:0200036HP:0001482Subcutaneous nodule1HLA-B CL E G H31064932ORPHA:117Behçet diseaseHP:0040281 - Very frequent4
HP:0200036HP:0001482Subcutaneous nodule1HLA-B CL E G H31064932ORPHA:3287Takayasu arteritisHP:0040281 - Very frequent4
HP:0200036HP:0001482Subcutaneous nodule1HLA-DRB1 CL E G H31234948ORPHA:797SarcoidosisHP:0040283 - Occasional2
HP:0200036HP:0001482Subcutaneous nodule1HMGA2 CL E G H80915009ORPHA:9406312q14 microdeletion syndromeHP:0040283 - Occasional2
HP:0200036HP:0001482Subcutaneous nodule1HMGA2 CL E G H80915009ORPHA:99971Well-differentiated liposarcomaHP:0040281 - Very frequent2
HP:0200036HP:0001482Subcutaneous nodule1IARS2 CL E G H5569929685ORPHA:436174Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome25
HP:0200036HP:0001482Subcutaneous nodule1IDH1 CL E G H34175382ORPHA:163634Maffucci syndromeHP:0040282 - Frequent15
HP:0200036HP:0001482Subcutaneous nodule1IDH1 CL E G H34175382ORPHA:296Ollier diseaseHP:0040282 - Frequent15
HP:0200036HP:0001482Subcutaneous nodule1IDH2 CL E G H34185383ORPHA:163634Maffucci syndromeHP:0040282 - Frequent29
HP:0200036HP:0001482Subcutaneous nodule1IDH2 CL E G H34185383ORPHA:296Ollier diseaseHP:0040282 - Frequent29
HP:0200036HP:0001482Subcutaneous nodule1IFNG CL E G H34585438OMIM:613254Tuberous sclerosis-2.23
HP:0200036HP:0001482Subcutaneous nodule1IFNGR1 CL E G H34595439ORPHA:117Behçet diseaseHP:0040281 - Very frequent60
HP:0200036HP:0001482Subcutaneous nodule1IL10 CL E G H35865962ORPHA:117Behçet diseaseHP:0040281 - Very frequent2
HP:0200036HP:0001482Subcutaneous nodule1IL12A CL E G H35925969ORPHA:117Behçet diseaseHP:0040281 - Very frequent
HP:0200036HP:0001482Subcutaneous nodule1IL12A-AS1 CL E G H10192837649094ORPHA:117Behçet diseaseHP:0040281 - Very frequent
HP:0200036HP:0001482Subcutaneous nodule1IL12B CL E G H35935970ORPHA:3287Takayasu arteritisHP:0040281 - Very frequent31
HP:0200036HP:0001482Subcutaneous nodule1IL23R CL E G H14923319100ORPHA:117Behçet diseaseHP:0040281 - Very frequent1
HP:0200036HP:0001482Subcutaneous nodule1INSR CL E G H36436091ORPHA:2297Insulin-resistance syndrome type AHP:0040281 - Very frequent229
HP:0200036HP:0001482Subcutaneous nodule1KIF11 CL E G H38326388ORPHA:2526Microcephaly-lymphedema-chorioretinopathy syndromeHP:0040283 - Occasional46
HP:0200036HP:0001482Subcutaneous nodule1KLLN CL E G H10014474837212ORPHA:201Cowden syndromeHP:0040282 - Frequent1
HP:0200036HP:0001482Subcutaneous nodule1KLRC4 CL E G H83026377ORPHA:117Behçet diseaseHP:0040281 - Very frequent
HP:0200036HP:0001482Subcutaneous nodule1KRAS CL E G H38456407ORPHA:2396Encephalocraniocutaneous lipomatosisHP:0040281 - Very frequent196
HP:0200036HP:0010732Nodular changes affecting the eyelids1LDLR CL E G H39496547OMIM:143890Hypercholesterolemia, familial, 12157
HP:0200036HP:0001482Subcutaneous nodule1LEMD3 CL E G H2359228887ORPHA:9406312q14 microdeletion syndromeHP:0040283 - Occasional68
HP:0200036HP:0001482Subcutaneous nodule1LEMD3 CL E G H2359228887ORPHA:1306Buschke-Ollendorff syndromeHP:0040281 - Very frequent68
HP:0200036HP:0001482Subcutaneous nodule1LEMD3 CL E G H2359228887ORPHA:1879Melorheostosis with osteopoikilosisHP:0040283 - Occasional68
HP:0200036HP:0010732Nodular changes affecting the eyelids1LPL CL E G H40236677OMIM:144250Hyperlipidemia, familial combined, 3106
HP:0200036HP:0001482Subcutaneous nodule1MC1R CL E G H41576929ORPHA:626Large congenital melanocytic nevusHP:0040283 - Occasional124
HP:0200036HP:0001482Subcutaneous nodule1MDM2 CL E G H41936973ORPHA:99971Well-differentiated liposarcomaHP:0040281 - Very frequent1
HP:0200036HP:0001482Subcutaneous nodule1MEFV CL E G H42106998ORPHA:117Behçet diseaseHP:0040281 - Very frequent281
HP:0200036HP:0001482Subcutaneous nodule1MLX CL E G H694511645ORPHA:3287Takayasu arteritisHP:0040281 - Very frequent
HP:0200036HP:0001482Subcutaneous nodule1MMP14 CL E G H43237160ORPHA:371428Multicentric osteolysis-nodulosis-arthropathy spectrumHP:0040282 - Frequent2
HP:0200036HP:0001482Subcutaneous nodule1MMP2 CL E G H43137166OMIM:259600Multicentric osteolysis, nodulosis, and arthropathy64
HP:0200036HP:0001482Subcutaneous nodule1MMP2 CL E G H43137166ORPHA:371428Multicentric osteolysis-nodulosis-arthropathy spectrumHP:0040282 - Frequent64
HP:0200036HP:0001482Subcutaneous nodule1MYSM1 CL E G H11480329401ORPHA:508542Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndromeHP:0040283 - Occasional
HP:0200036HP:0001482Subcutaneous nodule1NAGA CL E G H46687631ORPHA:79280Alpha-N-acetylgalactosaminidase deficiency type 2HP:0040281 - Very frequent47
HP:0200036HP:0001482Subcutaneous nodule1NOTCH3 CL E G H48547883ORPHA:2591Infantile myofibromatosisHP:0040281 - Very frequent144
HP:0200036HP:0001482Subcutaneous nodule1NRAS CL E G H48937989ORPHA:626Large congenital melanocytic nevusHP:0040283 - Occasional102
HP:0200036HP:0001482Subcutaneous nodule1OCRL CL E G H49528108OMIM:309000Lowe syndrome.88
HP:0200036HP:0010732Nodular changes affecting the eyelids1PCSK9 CL E G H25573820001OMIM:603776HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3; HCHOLA3178
HP:0200036HP:0010732Nodular changes affecting the eyelids1PDE11A CL E G H509408773ORPHA:1359Carney complex13
HP:0200036HP:0001482Subcutaneous nodule1PDGFB CL E G H51558800ORPHA:31112Dermatofibrosarcoma protuberansHP:0040281 - Very frequent9
HP:0200036HP:0001482Subcutaneous nodule1PDGFRB CL E G H51598804ORPHA:2591Infantile myofibromatosisHP:0040281 - Very frequent28
HP:0200036HP:0001482Subcutaneous nodule1PIK3CA CL E G H52908975ORPHA:201Cowden syndromeHP:0040282 - Frequent162
HP:0200036HP:0001482Subcutaneous nodule1POMP CL E G H5137120330OMIM:618048Proteasome-Associated autoinflammatory syndrome 22
HP:0200036HP:0001482Subcutaneous nodule1PORCN CL E G H6484017652ORPHA:2092Focal dermal hypoplasiaHP:0040282 - Frequent20
HP:0200036HP:0010732Nodular changes affecting the eyelids1PPP1R17 CL E G H1084216973OMIM:143890Hypercholesterolemia, familial, 12
HP:0200036HP:0010732Nodular changes affecting the eyelids1PRKAR1A CL E G H55739388ORPHA:1359Carney complex134
HP:0200036HP:0001482Subcutaneous nodule1PTEN CL E G H57289588ORPHA:109Bannayan-Riley-Ruvalcaba syndromeHP:0040282 - Frequent948
HP:0200036HP:0001482Subcutaneous nodule1PTEN CL E G H57289588ORPHA:201Cowden syndromeHP:0040282 - Frequent948
HP:0200036HP:0200016Acrokeratosis1PTEN CL E G H57289588OMIM:158350Cowden syndrome 1.948
HP:0200036HP:0200016Acrokeratosis1PTEN CL E G H57289588ORPHA:65285Lhermitte-Duclos diseaseHP:0040282 - Frequent948
HP:0200036HP:0001482Subcutaneous nodule1PTEN CL E G H57289588ORPHA:744Proteus syndromeHP:0040281 - Very frequent948
HP:0200036HP:0001482Subcutaneous nodule1PTEN CL E G H57289588ORPHA:137608Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndromeHP:0040281 - Very frequent948
HP:0200036HP:0001482Subcutaneous nodule1PTH1R CL E G H57459608ORPHA:296Ollier diseaseHP:0040282 - Frequent58
HP:0200036HP:0001482Subcutaneous nodule1PTPN11 CL E G H57819644ORPHA:500Noonan syndrome with multiple lentiginesHP:0040283 - Occasional291
HP:0200036HP:0001482Subcutaneous nodule1RAF1 CL E G H58949829ORPHA:500Noonan syndrome with multiple lentiginesHP:0040283 - Occasional212
HP:0200036HP:0001482Subcutaneous nodule1SALL1 CL E G H629910524ORPHA:857Townes-Brocks syndromeHP:0040282 - Frequent124
HP:0200036HP:0001482Subcutaneous nodule1SDHB CL E G H639010681ORPHA:201Cowden syndromeHP:0040282 - Frequent237
HP:0200036HP:0001482Subcutaneous nodule1SDHC CL E G H639110682ORPHA:201Cowden syndromeHP:0040282 - Frequent147
HP:0200036HP:0001482Subcutaneous nodule1SDHD CL E G H639210683ORPHA:201Cowden syndromeHP:0040282 - Frequent129
HP:0200036HP:0001482Subcutaneous nodule1SEC23B CL E G H1048310702ORPHA:201Cowden syndromeHP:0040282 - Frequent60
HP:0200036HP:0010732Nodular changes affecting the eyelids1SLC37A4 CL E G H25424061ORPHA:79259Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib110
HP:0200036HP:0010732Nodular changes affecting the eyelids1SLC37A4 CL E G H25424061OMIM:232220Glycogen storage disease ib110
HP:0200036HP:0010732Nodular changes affecting the eyelids1SLC37A4 CL E G H25424061OMIM:232240GLYCOGEN STORAGE DISEASE Ic110
HP:0200036HP:0010732Nodular changes affecting the eyelids1SPRED1 CL E G H16174220249ORPHA:137605Legius syndrome136
HP:0200036HP:0001482Subcutaneous nodule1STAT4 CL E G H677511365ORPHA:117Behçet diseaseHP:0040281 - Very frequent2
HP:0200036HP:0001482Subcutaneous nodule1TEK CL E G H701011724ORPHA:1059Blue rubber bleb nevusHP:0040282 - Frequent78
HP:0200036HP:0001482Subcutaneous nodule1TLR4 CL E G H709911850ORPHA:117Behçet diseaseHP:0040281 - Very frequent3
HP:0200036HP:0001482Subcutaneous nodule1TNFRSF11A CL E G H879211908ORPHA:2801Juvenile Paget diseaseHP:0040283 - Occasional72
HP:0200036HP:0001482Subcutaneous nodule1TNFRSF11B CL E G H498211909ORPHA:2801Juvenile Paget diseaseHP:0040283 - Occasional44
HP:0200036HP:0001482Subcutaneous nodule1TSC1 CL E G H724812362OMIM:191100Tuberous sclerosis-1.1090
HP:0200036HP:0001482Subcutaneous nodule1TSC2 CL E G H724912363OMIM:613254Tuberous sclerosis-2.2738
HP:0200036HP:0010732Nodular changes affecting the eyelids1TTPA CL E G H727412404OMIM:277460VITAMIN E, FAMILIAL ISOLATED DEFICIENCY OF62
HP:0200036HP:0001482Subcutaneous nodule1UBAC2 CL E G H33786720486ORPHA:117Behçet diseaseHP:0040281 - Very frequent
HP:0200036HP:0001482Subcutaneous nodule1USF3 CL E G H20571730494ORPHA:201Cowden syndromeHP:0040282 - Frequent1
HP:0200036HP:0010606Hordeolum2 CL E G H
HP:0200036HP:0010604Cyst of the eyelid2 CL E G H
HP:0200036HP:0001114Xanthelasma2ABCA1 CL E G H1929ORPHA:425Apolipoprotein A-I deficiency191
HP:0200036HP:0001114Xanthelasma2ABCG8 CL E G H6424113887OMIM:210250Sitosterolemia 176
HP:0200036HP:0001114Xanthelasma2APOA1 CL E G H335600ORPHA:425Apolipoprotein A-I deficiency40
HP:0200036HP:0001114Xanthelasma2APOA2 CL E G H336601OMIM:143890Hypercholesterolemia, familial, 19
HP:0200036HP:0001114Xanthelasma2APOB CL E G H338603OMIM:144010Hypercholesterolemia, familial, 2.356
HP:0200036HP:0001114Xanthelasma2APOE CL E G H348613ORPHA:412DysbetalipoproteinemiaHP:0040282 - Frequent39
HP:0200036HP:0007470Periarticular subcutaneous nodules2ASAH1 CL E G H427735ORPHA:333Farber diseaseHP:0040281 - Very frequent78
HP:0200036HP:0007470Periarticular subcutaneous nodules2ASAH1 CL E G H427735OMIM:228000Farber lipogranulomatosis.78
HP:0200036HP:0025014Subcutaneous spheroids2COL1A1 CL E G H12772197ORPHA:287Classical Ehlers-Danlos syndromeHP:0040283 - Occasional373
HP:0200036HP:0025014Subcutaneous spheroids2COL5A1 CL E G H12892209ORPHA:287Classical Ehlers-Danlos syndromeHP:0040283 - Occasional660
HP:0200036HP:0025014Subcutaneous spheroids2COL5A1 CL E G H12892209OMIM:130000Ehlers-danlos syndrome, type I660
HP:0200036HP:0025014Subcutaneous spheroids2COL5A2 CL E G H12902210ORPHA:287Classical Ehlers-Danlos syndromeHP:0040283 - Occasional325
HP:0200036HP:0025014Subcutaneous spheroids2COL5A2 CL E G H12902210OMIM:130010Ehlers-Danlos syndrome, classic type, 2325
HP:0200036HP:0001114Xanthelasma2CYP27A1 CL E G H15932605OMIM:213700Cerebrotendinous xanthomatosis114
HP:0200036HP:0001114Xanthelasma2EPHX2 CL E G H20533402OMIM:143890Hypercholesterolemia, familial, 11
HP:0200036HP:0001114Xanthelasma2G6PC1 CL E G H25384056OMIM:232200Glycogen storage disease ia.
HP:0200036HP:0001114Xanthelasma2GHR CL E G H26904263OMIM:143890Hypercholesterolemia, familial, 198
HP:0200036HP:0007470Periarticular subcutaneous nodules2IARS2 CL E G H5569929685ORPHA:436174Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndromeHP:0040281 - Very frequent25
HP:0200036HP:0001114Xanthelasma2LDLR CL E G H39496547OMIM:143890Hypercholesterolemia, familial, 12157
HP:0200036HP:0001114Xanthelasma2LPL CL E G H40236677OMIM:144250Hyperlipidemia, familial combined, 3HP:0040283 - Occasional106
HP:0200036HP:0001114Xanthelasma2PCSK9 CL E G H25573820001OMIM:603776HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3; HCHOLA3178
HP:0200036HP:0001114Xanthelasma2PPP1R17 CL E G H1084216973OMIM:143890Hypercholesterolemia, familial, 12
HP:0200036HP:0001114Xanthelasma2SLC37A4 CL E G H25424061ORPHA:79259Glycogen storage disease due to glucose-6-phosphatase deficiency type IbHP:0040283 - Occasional110
HP:0200036HP:0001114Xanthelasma2SLC37A4 CL E G H25424061OMIM:232220Glycogen storage disease ib.110
HP:0200036HP:0001114Xanthelasma2SLC37A4 CL E G H25424061OMIM:232240GLYCOGEN STORAGE DISEASE Ic.110
HP:0200036HP:0001114Xanthelasma2SPRED1 CL E G H16174220249ORPHA:137605Legius syndrome136
HP:0200036HP:0001114Xanthelasma2TTPA CL E G H727412404OMIM:277460VITAMIN E, FAMILIAL ISOLATED DEFICIENCY OF.62
HP:0200036HP:0010607Hordeolum externum3 CL E G H
HP:0200036HP:0010605Chalazion3 CL E G H
HP:0200036HP:0010608Hordeolum internum3 CL E G H


Genes (114) :ABCA1 ABCC6 ABCG8 ACVR1 AKT1 ANTXR2 APC APOA1 APOA2 APOB APOE ASAH1 ATP2A2 B2M BCL2 BCL6 BRAF BTNL2 C4A CCR1 CDK4 COL1A1 COL3A1 COL5A1 COL5A2 COL7A1 CTNNB1 CYLD CYP27A1 DACT1 DDIT3 ECM1 ENPP1 EPHX2 ERAP1 FAS FBN1 FERMT3 FGFR1 FGFR2 FUS G6PC1 GHR GJB2 GJB6 GLA GLMN GLS GNAS HLA-B HLA-DRB1 HMGA2 IARS2 IDH1 IDH2 IFNG IFNGR1 IGH IL10 IL12A IL12A-AS1 IL12B IL23R INSR KIF11 KIF1B KIT KLLN KLRC4 KRAS LDLR LEMD3 LPL MC1R MDM2 MEFV MLX MMP14 MMP2 MYSM1 NAGA NOTCH3 NRAS OCRL PCSK9 PDE11A PDGFB PDGFRB PIK3CA POMP PORCN PPP1R17 PRKAR1A PTEN PTH1R PTPN11 RAF1 SALL1 SDHB SDHC SDHD SEC23B SLC37A4 SPRED1 STAT4 TEK TLR4 TNFRSF11A TNFRSF11B TSC1 TSC2 TTPA UBAC2 USF3

Diseases (90) :ORPHA:425 ORPHA:758 OMIM:210250 ORPHA:337 ORPHA:201 ORPHA:744 OMIM:228600 ORPHA:2176 ORPHA:2028 ORPHA:873 OMIM:143890 OMIM:144010 ORPHA:412 ORPHA:158029 ORPHA:333 OMIM:228000 OMIM:101900 ORPHA:218 OMIM:124200 OMIM:241600 ORPHA:545 ORPHA:500 ORPHA:840 ORPHA:797 ORPHA:117 ORPHA:99971 ORPHA:287 ORPHA:31112 ORPHA:286 OMIM:130000 OMIM:130010 ORPHA:89843 ORPHA:91414 ORPHA:211 ORPHA:867 OMIM:213700 ORPHA:857 ORPHA:99967 ORPHA:530 ORPHA:2833 OMIM:612840 ORPHA:2396 ORPHA:1555 OMIM:232200 ORPHA:477 ORPHA:324 ORPHA:83454 OMIM:618339 OMIM:166350 ORPHA:2762 ORPHA:79443 ORPHA:79444 ORPHA:79445 ORPHA:3287 ORPHA:94063 ORPHA:436174 ORPHA:163634 ORPHA:296 OMIM:613254 ORPHA:2297 ORPHA:2526 OMIM:256700 ORPHA:79455 ORPHA:1306 ORPHA:1879 OMIM:144250 ORPHA:626 ORPHA:3243 ORPHA:371428 OMIM:259600 ORPHA:508542 ORPHA:79280 ORPHA:2591 OMIM:309000 OMIM:603776 ORPHA:1359 OMIM:618048 ORPHA:2092 ORPHA:109 OMIM:158350 ORPHA:65285 ORPHA:137608 ORPHA:79259 OMIM:232220 OMIM:232240 ORPHA:137605 ORPHA:1059 ORPHA:2801 OMIM:191100 OMIM:277460
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.