Human Phenotype Ontology 
Grandparent Node:
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All (HP:0000001)help
Parent Node:
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Phenotypic abnormality (HP:0000118)help
..Starting node
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Abnormality of connective tissue (HP:0003549)help
Term ID: 3549
Name: Abnormality of connective tissue
Synonym:
Definition: Any abnormality of the soft tissues, including both connective tissue (tendons, ligaments, fascia, fibrous tissues, and fat).
Comments:
Reference: HP:0003549
Genes and Diseases:
 
       Child Nodes:
........expandFlexion contracture (HP:0001371) help
................... HP:0002803 Congenital contracture
................... HP:0002828 Multiple joint contractures
................... HP:0003121 Limb joint contracture
................... HP:0004631 Decreased cervical spine flexion due to contractures of posterior cervical muscles
................... HP:0005781 Contractures of the large joints
................... HP:0005876 Progressive flexion contractures
................... HP:0005997 Restricted neck movement due to contractures
................... HP:0030044 Flexion contracture of digit
................... HP:0100492 Joint contractures involving the joints of the feet
........expandIncreased connective tissue (HP:0009025) help
................... HP:0009126 Increased adipose tissue
........expandAbnormal adipose tissue morphology (HP:0009124) help
................... HP:0000291 Abnormality of facial adipose tissue
................... HP:0001001 Abnormality of subcutaneous fat tissue
................... HP:0009125 Lipodystrophy
................... HP:0009126 Increased adipose tissue
................... HP:0012490 Panniculitis
................... HP:0025384 Diet-resistant subcutaneous adipose tissue
................... HP:0030759 Adipocyte hypertrophy
................... HP:0031451 Lower extremity subcutanous fat hypertrophy
................... HP:0040063 Decreased adipose tissue
................... HP:0200013 Neoplasm of fatty tissue
........expandMusculotendinous retraction (HP:0031462) help
........expandAbnormal mast cell morphology (HP:0100494) help
................... HP:0031408 Increased proportion of CD25+ mast cells
................... HP:0100495 Mastocytosis
........expandAbnormality of the fascia (HP:0100536) help
................... HP:0100537 Fasciitis
........expandCellulitis (HP:0100658) help
........expandAbnormal Sharpey fiber morphology (HP:0100685) help
................... HP:0000934 Chondrocalcinosis
................... HP:0100686 Enthesitis
........expandScarring (HP:0100699) help
................... HP:0000559 Corneal scarring
................... HP:0000987 Atypical scarring of skin
................... HP:0007777 Chorioretinal scar
................... HP:0200056 Macular scar
........expandHernia (HP:0100790) help
................... HP:0000776 Congenital diaphragmatic hernia
................... HP:0002036 Hiatus hernia
................... HP:0004299 Hernia of the abdominal wall
................... HP:0100823 Genital hernia
........expandCongenital mesoblastic nephroma (HP:0100881) help
........expandConnective tissue nevi (HP:0100898) help
................... HP:0009721 Shagreen patch
........expandAbnormality of odontoid tissue (HP:3000050) help
................... HP:0000682 Abnormality of dental enamel
................... HP:0000703 Dentinogenesis imperfecta
................... HP:0100717 Abnormality of the cementum

 Sister Nodes: 
..expandAbnormal cellular phenotype (HP:0025354) help
..expandAbnormality of blood and blood-forming tissues (HP:0001871) help
..expandAbnormality of head or neck (HP:0000152) help
..expandAbnormality of limbs (HP:0040064) help
..expandAbnormality of metabolism/homeostasis (HP:0001939) help
..expandAbnormality of prenatal development or birth (HP:0001197) help
..expandAbnormality of the breast (HP:0000769) help
..expandAbnormality of the cardiovascular system (HP:0001626) help
..expandAbnormality of the digestive system (HP:0025031) help
..expandAbnormality of the ear (HP:0000598) help
..expandAbnormality of the endocrine system (HP:0000818) help
..expandAbnormality of the eye (HP:0000478) help
..expandAbnormality of the genitourinary system (HP:0000119) help
..expandAbnormality of the immune system (HP:0002715) help
..expandAbnormality of the integument (HP:0001574) help
..expandAbnormality of the musculature (HP:0003011) help
..expandAbnormality of the nervous system (HP:0000707) help
..expandAbnormality of the respiratory system (HP:0002086) help
..expandAbnormality of the skeletal system (HP:0000924) help
..expandAbnormality of the thoracic cavity (HP:0045027) help
..expandAbnormality of the voice (HP:0001608) help
..expandConstitutional symptom (HP:0025142) help
..expandGrowth abnormality (HP:0001507) help
..expandNeoplasm (HP:0002664) help
..expandobsolete Abnormal test result (HP:0500014) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0003549HP:0003549Abnormality of connective tissue0PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0003549Abnormality of connective tissue0PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:3000050Abnormal odontoid tissue morphology1PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0100790Hernia1PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0100699Scarring1PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0100658Cellulitis1PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0009025Increased connective tissue1PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0100699Scarring1PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0100658Cellulitis1PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0009025Increased connective tissue1PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:3000050Abnormal odontoid tissue morphology1PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0100790Hernia1PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0009124Abnormal adipose tissue morphology1PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0100881Congenital mesoblastic nephroma1PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0100898Connective tissue nevi1PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0031462Musculotendinous retraction1PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0100685Abnormal Sharpey fiber morphology1PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0100536Abnormality of the fascia1PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0001371Flexion contracture1PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0009124Abnormal adipose tissue morphology1PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0100881Congenital mesoblastic nephroma1PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0100898Connective tissue nevi1PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0100685Abnormal Sharpey fiber morphology1PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0100536Abnormality of the fascia1PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0001371Flexion contracture1PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0031462Musculotendinous retraction1PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0009125Lipodystrophy2PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0000703Dentinogenesis imperfecta2PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0030759Adipocyte hypertrophy2PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0025384Diet-resistant subcutaneous adipose tissue2PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0100717Abnormal cementum morphology2PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0031451Lower extremity subcutanous fat hypertrophy2PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0100537Fasciitis2PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0033333Jaw contracture2PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0009126Increased adipose tissue2PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0007777Chorioretinal scar2PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0012490Panniculitis2PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0004299Hernia of the abdominal wall2PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0009721Shagreen patch2PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0000934Chondrocalcinosis2PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0100686Enthesitis2PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0004631Decreased cervical spine flexion due to contractures of posterior cervical muscles2PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0002828Multiple joint contractures2PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0002803Congenital contracture2PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0009125Lipodystrophy2PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0000703Dentinogenesis imperfecta2PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0030759Adipocyte hypertrophy2PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0025384Diet-resistant subcutaneous adipose tissue2PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0100717Abnormal cementum morphology2PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0031451Lower extremity subcutanous fat hypertrophy2PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0100537Fasciitis2PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0033333Jaw contracture2PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0009126Increased adipose tissue2PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0007777Chorioretinal scar2PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0012490Panniculitis2PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0004299Hernia of the abdominal wall2PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0009721Shagreen patch2PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0000934Chondrocalcinosis2PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0100686Enthesitis2PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0004631Decreased cervical spine flexion due to contractures of posterior cervical muscles2PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0002828Multiple joint contractures2PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0002803Congenital contracture2PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0100492Joint contractures involving the joints of the feet2PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0040063Decreased adipose tissue2PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0000559Corneal scarring2PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0000987Atypical scarring of skin2PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0200013Neoplasm of fatty tissue2PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0000291Abnormality of facial adipose tissue2PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0002036Hiatus hernia2PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0000682Abnormal dental enamel morphology2PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0200056Macular scar2PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0001001Abnormality of subcutaneous fat tissue2PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0005997Restricted neck movement due to contractures2PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0003121Limb joint contracture2PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0000776Congenital diaphragmatic hernia2PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0005781Contractures of the large joints2PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0100823Genital hernia2PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0030044Flexion contracture of digit2PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0005876Progressive flexion contractures2PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0040063Decreased adipose tissue2PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0000559Corneal scarring2PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0000987Atypical scarring of skin2PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0200013Neoplasm of fatty tissue2PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0000291Abnormality of facial adipose tissue2PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0002036Hiatus hernia2PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0000682Abnormal dental enamel morphology2PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0200056Macular scar2PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0001001Abnormality of subcutaneous fat tissue2PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0005997Restricted neck movement due to contractures2PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0100492Joint contractures involving the joints of the feet2PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0003121Limb joint contracture2PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0000776Congenital diaphragmatic hernia2PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0005781Contractures of the large joints2PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0100823Genital hernia2PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0030044Flexion contracture of digit2PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0005876Progressive flexion contractures2PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0007552Abnormal subcutaneous fat tissue distribution3PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0005830Flexion contracture of toe3PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0004872Incisional hernia3PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0033785Enamel agenesis3PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0009003Increased subcutaneous truncal adipose tissue3PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0025128Reduced intraabdominal adipose tissue3PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0001539Omphalocele3PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0001075Atrophic scars3PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0009064Generalized lipodystrophy3PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0000139Uterine prolapse3PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0011086Dentinogenesis imperfecta of primary and permanent teeth3PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0005879Congenital finger flexion contractures3PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0002933Ventral hernia3PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0006297Enamel hypoplasia3PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0008887Adipose tissue loss3PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0033788Cementum overgrowth3PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0010562Keloids3PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0012031Lipomatous tumor3PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0000287Increased facial adipose tissue3PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0000468Increased adipose tissue around the neck3PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0008985Increased intramuscular fat3PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0000705Amelogenesis imperfecta3PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0025094Disciform macular scar3PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0000683Grayish enamel3PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0005853Congenital foot contraction deformities3PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0005750Contractures of the joints of the lower limbs3PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0009112Aplasia of the left hemidiaphragm3PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0025195Central diaphragmatic hernia3PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0100360Contractures of the joints of the upper limbs3PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0025193Posterolateral diaphragmatic hernia3PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0012385Camptodactyly3PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0005830Flexion contracture of toe3PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0004872Incisional hernia3PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0033785Enamel agenesis3PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0009003Increased subcutaneous truncal adipose tissue3PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0025128Reduced intraabdominal adipose tissue3PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0001539Omphalocele3PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0001075Atrophic scars3PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0009064Generalized lipodystrophy3PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0000139Uterine prolapse3PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0011086Dentinogenesis imperfecta of primary and permanent teeth3PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0005879Congenital finger flexion contractures3PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0002933Ventral hernia3PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0006297Enamel hypoplasia3PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0008887Adipose tissue loss3PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0033788Cementum overgrowth3PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0010562Keloids3PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0012031Lipomatous tumor3PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0000287Increased facial adipose tissue3PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0000468Increased adipose tissue around the neck3PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0008985Increased intramuscular fat3PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0000705Amelogenesis imperfecta3PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0025094Disciform macular scar3PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0000683Grayish enamel3PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0007552Abnormal subcutaneous fat tissue distribution3PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0005853Congenital foot contraction deformities3PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0005750Contractures of the joints of the lower limbs3PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0009112Aplasia of the left hemidiaphragm3PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0025195Central diaphragmatic hernia3PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0100360Contractures of the joints of the upper limbs3PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0025193Posterolateral diaphragmatic hernia3PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0012385Camptodactyly3PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0033786Hypomature enamel3PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0025383Dorsocervical fat pad3PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0000023Inguinal hernia3PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0007525Yellow subcutaneous tissue covered by thin, scaly skin3PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0009059Congenital generalized lipodystrophy3PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0006285Enamel hypomineralization3PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0100672Vaginal hernia3PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0011060Dentinogenesis imperfecta limited to primary teeth3PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0003758Reduced subcutaneous adipose tissue3PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0003809Reduced intrathoracic adipose tissue3PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0100837Atrophodermia vermiculata3PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0001537Umbilical hernia3PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0100578Lipoatrophy3PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0012785Flexion contracture of finger3PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0004552Scarring alopecia of scalp3PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0000694Odontodysplasia3PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0025385Diet-resistant subcutaneous adipose tissue below waist3PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0033787Cementum hypoplasia3PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0045029Eosinophilic fasciitis3PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0001031Subcutaneous lipoma3PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0008993Increased intraabdominal fat3PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0033776Enamel pearls3PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0000292Loss of facial adipose tissue3PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0100541Femoral hernia3PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0100695Lipedema3PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0009722Dental enamel pits3PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0005745Congenital foot contractures3PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0005017Polyarticular chondrocalcinosis3PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0032592Aplasia of the right hemidiaphragm3PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0005684Distal arthrogryposis3PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0025194Morgagni diaphragmatic hernia3PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0002804Arthrogryposis multiplex congenita3PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0033786Hypomature enamel3PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0025383Dorsocervical fat pad3PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0000023Inguinal hernia3PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0007525Yellow subcutaneous tissue covered by thin, scaly skin3PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0009059Congenital generalized lipodystrophy3PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0006285Enamel hypomineralization3PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0100672Vaginal hernia3PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0011060Dentinogenesis imperfecta limited to primary teeth3PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0003758Reduced subcutaneous adipose tissue3PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0003809Reduced intrathoracic adipose tissue3PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0100837Atrophodermia vermiculata3PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0001537Umbilical hernia3PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0100578Lipoatrophy3PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0012785Flexion contracture of finger3PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0004552Scarring alopecia of scalp3PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0000694Odontodysplasia3PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0025385Diet-resistant subcutaneous adipose tissue below waist3PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0033787Cementum hypoplasia3PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0045029Eosinophilic fasciitis3PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0001031Subcutaneous lipoma3PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0008993Increased intraabdominal fat3PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0033776Enamel pearls3PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0000292Loss of facial adipose tissue3PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0100541Femoral hernia3PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0100695Lipedema3PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0009722Dental enamel pits3PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0005745Congenital foot contractures3PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0005017Polyarticular chondrocalcinosis3PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0032592Aplasia of the right hemidiaphragm3PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0005684Distal arthrogryposis3PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0025194Morgagni diaphragmatic hernia3PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0002804Arthrogryposis multiplex congenita3PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0000292Loss of facial adipose tissue4PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0009537Flexion contracture of the 2nd finger4PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0009473Joint contracture of the hand4PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0100821Urethrocele4PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0100490Camptodactyly of finger4PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0010212Flexion contracture of the hallux4PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0001239Wrist flexion contracture4PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0001836Camptodactyly of toe4PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0011084Hypocalcification of dental enamel4PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0009319Joint contracture of the 3rd finger4PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0010345Flexion contracture of the 5th toe4PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0005995Decreased adipose tissue around neck4PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0010339Flexion contracture of the 4th toe4PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0031158Widened atrophic scar4PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0009274Joint contracture of the 4th finger4PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0010333Flexion contracture of 3rd toe4PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0100822Rectocele4PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0011074Localized hypoplasia of dental enamel4PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0010327Flexion contracture of the 2nd toe4PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0009017Loss of gluteal subcutaneous adipose tissue4PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0009183Joint contracture of the 5th finger4PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0009600Flexion contracture of thumb4PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0006380Knee flexion contracture4PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0005745Congenital foot contractures4PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0003089Hamstring contractures4PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0005612Arthrogryposis-like hand anomaly4PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0009473Joint contracture of the hand4PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0100821Urethrocele4PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0100490Camptodactyly of finger4PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0010212Flexion contracture of the hallux4PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0001239Wrist flexion contracture4PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0001836Camptodactyly of toe4PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0011084Hypocalcification of dental enamel4PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0009319Joint contracture of the 3rd finger4PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0010345Flexion contracture of the 5th toe4PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0005995Decreased adipose tissue around neck4PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0010339Flexion contracture of the 4th toe4PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0031158Widened atrophic scar4PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0009274Joint contracture of the 4th finger4PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0010333Flexion contracture of 3rd toe4PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0100822Rectocele4PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0011074Localized hypoplasia of dental enamel4PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0010327Flexion contracture of the 2nd toe4PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0009017Loss of gluteal subcutaneous adipose tissue4PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0009183Joint contracture of the 5th finger4PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0009600Flexion contracture of thumb4PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0006380Knee flexion contracture4PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0000292Loss of facial adipose tissue4PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0009537Flexion contracture of the 2nd finger4PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0005745Congenital foot contractures4PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0003089Hamstring contractures4PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0005612Arthrogryposis-like hand anomaly4PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0002987Elbow flexion contracture4PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0009002Loss of truncal subcutaneous adipose tissue4PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0009019Progressive loss of facial adipose tissue4PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0001073Cigarette-paper scars4PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0011085Hypomature dental enamel4PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0100645Cystocele4PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0003717Minimal subcutaneous fat4PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0008366Contractures involving the joints of the feet4PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0006282Generalized hypoplasia of dental enamel4PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0001220Interphalangeal joint contracture of finger4PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0007485Absence of subcutaneous fat4PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0006466Ankle flexion contracture4PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0003635Loss of subcutaneous adipose tissue in limbs4PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0007596Painful subcutaneous lipomas4PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0012034Liposarcoma4PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0001012Multiple lipomas4PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0006366Adductor longus contractures4PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0003273Hip contracture4PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0003044Shoulder flexion contracture4PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0012032Lipoma4PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0002987Elbow flexion contracture4PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0009002Loss of truncal subcutaneous adipose tissue4PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0009019Progressive loss of facial adipose tissue4PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0001073Cigarette-paper scars4PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0011085Hypomature dental enamel4PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0100645Cystocele4PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0003717Minimal subcutaneous fat4PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0008366Contractures involving the joints of the feet4PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0006282Generalized hypoplasia of dental enamel4PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0001220Interphalangeal joint contracture of finger4PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0007485Absence of subcutaneous fat4PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0006466Ankle flexion contracture4PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0012032Lipoma4PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0003635Loss of subcutaneous adipose tissue in limbs4PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0007596Painful subcutaneous lipomas4PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0012034Liposarcoma4PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0001012Multiple lipomas4PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0006366Adductor longus contractures4PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0003273Hip contracture4PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0003044Shoulder flexion contracture4PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0009056Loss of subcutaneous adipose tissue from upper limbs5PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0100357Contracture of the metatarsophalangeal joint of the 3rd toe5PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0009184Contracture of the distal interphalangeal joint of the 5th finger5PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0009624Contractures of the carpometacarpal joint of the thumb5PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0100350Contracture of the proximal interphalangeal joint of the 4th toe5PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0007541Frontal cutaneous lipoma5PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0009471Contracture of the proximal interphalangeal joint of the 3rd finger5PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0100356Contracture of the metatarsophalangeal joint of the 2nd toe5PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0009019Progressive loss of facial adipose tissue5PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0009538Contracture of the distal interphalangeal joint of the 2nd finger5PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0009277Contracture of the metacarpophalangeal joint of the 4th finger5PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0100349Contracture of the proximal interphalangeal joint of the 3rd toe5PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0009626Contractures of the interphalangeal joint of the thumb5PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0005679Dupuytren contracture5PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0100348Contracture of the proximal interphalangeal joint of the 2nd toe5PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0010214Contracture of the interphalangeal joint of the hallux5PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0012454Unilateral wrist flexion contracture5PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0009276Contracture of the proximal interphalangeal joint of the 4th finger5PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0001771Achilles tendon contracture5PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0009469Contracture of the distal interphalangeal joint of the 3rd finger5PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0009186Contracture of the metacarpophalangeal joint of the 5th finger5PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0009625Contractures of the metacarpophalangeal joint of the thumb5PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0100359Contracture of the metatarsophalangeal joint of the 5th toe5PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0012785Flexion contracture of finger5PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0030815Lipoma of the tongue5PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0010213Contracture of the tarsometatarsal joint of the hallux5PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0005320Lack of facial subcutaneous fat5PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0009539Contracture of the metacarpophalangeal joint of the 2nd finger5PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0100354Contracture of the distal interphalangeal joint of the 4th toe5PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0008112Plantar flexion contractures5PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0009185Contracture of the proximal interphalangeal joint of the 5th finger5PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0100355Contractures of the distal interphalangeal joint of the 5th toe5PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0009275Contracture of the distal interphalangeal joint of the 4th finger5PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0001215Camptodactyly of 2nd-5th fingers5PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0100353Contracture of the distal interphalangeal joint of the 3rd toe5PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0010215Contractures of the metatarsophalangeal joint of the hallux5PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0001031Subcutaneous lipoma5PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0009540Contracture of the proximal interphalangeal joint of the 2nd finger5PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0100358Contracture of the metatarsophalangeal joint of the 4th toe5PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0009470Contracture of the metacarpophalangeal joint of the 3rd finger5PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0100352Contracture of the distal interphalangeal joint of the 2nd toe5PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0100351Contractures of the proximal interphalangeal joint of the 5th toe5PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0012268Myxoid liposarcoma5PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0100251Multiple central nervous system lipomas5PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0012033Sacral lipoma5PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0009184Contracture of the distal interphalangeal joint of the 5th finger5PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0009624Contractures of the carpometacarpal joint of the thumb5PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0100350Contracture of the proximal interphalangeal joint of the 4th toe5PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0007541Frontal cutaneous lipoma5PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0009471Contracture of the proximal interphalangeal joint of the 3rd finger5PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0100356Contracture of the metatarsophalangeal joint of the 2nd toe5PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0009019Progressive loss of facial adipose tissue5PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0009538Contracture of the distal interphalangeal joint of the 2nd finger5PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0009277Contracture of the metacarpophalangeal joint of the 4th finger5PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0100349Contracture of the proximal interphalangeal joint of the 3rd toe5PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0009626Contractures of the interphalangeal joint of the thumb5PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0005679Dupuytren contracture5PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0100348Contracture of the proximal interphalangeal joint of the 2nd toe5PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0010214Contracture of the interphalangeal joint of the hallux5PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0012454Unilateral wrist flexion contracture5PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0009276Contracture of the proximal interphalangeal joint of the 4th finger5PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0001771Achilles tendon contracture5PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0009469Contracture of the distal interphalangeal joint of the 3rd finger5PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0009186Contracture of the metacarpophalangeal joint of the 5th finger5PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0009625Contractures of the metacarpophalangeal joint of the thumb5PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0100359Contracture of the metatarsophalangeal joint of the 5th toe5PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0012785Flexion contracture of finger5PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0030815Lipoma of the tongue5PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0010213Contracture of the tarsometatarsal joint of the hallux5PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0005320Lack of facial subcutaneous fat5PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0009539Contracture of the metacarpophalangeal joint of the 2nd finger5PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0100354Contracture of the distal interphalangeal joint of the 4th toe5PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0008112Plantar flexion contractures5PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0009185Contracture of the proximal interphalangeal joint of the 5th finger5PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0100355Contractures of the distal interphalangeal joint of the 5th toe5PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0009275Contracture of the distal interphalangeal joint of the 4th finger5PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0001215Camptodactyly of 2nd-5th fingers5PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0100353Contracture of the distal interphalangeal joint of the 3rd toe5PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0010215Contractures of the metatarsophalangeal joint of the hallux5PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0001031Subcutaneous lipoma5PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0009540Contracture of the proximal interphalangeal joint of the 2nd finger5PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0100358Contracture of the metatarsophalangeal joint of the 4th toe5PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0009470Contracture of the metacarpophalangeal joint of the 3rd finger5PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0100352Contracture of the distal interphalangeal joint of the 2nd toe5PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0100351Contractures of the proximal interphalangeal joint of the 5th toe5PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0009056Loss of subcutaneous adipose tissue from upper limbs5PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0100357Contracture of the metatarsophalangeal joint of the 3rd toe5PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0012268Myxoid liposarcoma5PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0100251Multiple central nervous system lipomas5PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0012033Sacral lipoma5PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0025476Testicular lipomatosis5PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0006773Cutaneous angiolipomas5PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0005830Flexion contracture of toe5PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0030233Bethlem sign5PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0100490Camptodactyly of finger5PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0012453Bilateral wrist flexion contracture5PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0005617Bilateral camptodactyly5PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0005879Congenital finger flexion contractures5PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0040164Lipomas of eyelids5PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0009697Contracture of the distal interphalangeal joint of the fingers5PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0034009Pelvic lipomatosis5PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0005830Flexion contracture of toe5PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0030233Bethlem sign5PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0100490Camptodactyly of finger5PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0012453Bilateral wrist flexion contracture5PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0005617Bilateral camptodactyly5PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0005879Congenital finger flexion contractures5PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0040164Lipomas of eyelids5PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0009697Contracture of the distal interphalangeal joint of the fingers5PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0025476Testicular lipomatosis5PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0006773Cutaneous angiolipomas5PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0034009Pelvic lipomatosis5PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0007596Painful subcutaneous lipomas6PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0005617Bilateral camptodactyly6PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0005879Congenital finger flexion contractures6PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0001220Interphalangeal joint contracture of finger6PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0007596Painful subcutaneous lipomas6PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0005617Bilateral camptodactyly6PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0005879Congenital finger flexion contractures6PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0001220Interphalangeal joint contracture of finger6PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0009183Joint contracture of the 5th finger6PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0009600Flexion contracture of thumb6PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0009537Flexion contracture of the 2nd finger6PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0030675Contracture of proximal interphalangeal joints of 2nd-5th fingers6PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0009184Contracture of the distal interphalangeal joint of the 5th finger6PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0009471Contracture of the proximal interphalangeal joint of the 3rd finger6PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0010212Flexion contracture of the hallux6PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0009538Contracture of the distal interphalangeal joint of the 2nd finger6PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0001836Camptodactyly of toe6PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0009319Joint contracture of the 3rd finger6PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0010345Flexion contracture of the 5th toe6PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0009276Contracture of the proximal interphalangeal joint of the 4th finger6PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0010339Flexion contracture of the 4th toe6PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0009469Contracture of the distal interphalangeal joint of the 3rd finger6PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0009274Joint contracture of the 4th finger6PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0010333Flexion contracture of 3rd toe6PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0009185Contracture of the proximal interphalangeal joint of the 5th finger6PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0010327Flexion contracture of the 2nd toe6PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0009275Contracture of the distal interphalangeal joint of the 4th finger6PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0001215Camptodactyly of 2nd-5th fingers6PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0009540Contracture of the proximal interphalangeal joint of the 2nd finger6PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0006866Midline central nervous system lipomas6PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0009537Flexion contracture of the 2nd finger6PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0030675Contracture of proximal interphalangeal joints of 2nd-5th fingers6PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0009184Contracture of the distal interphalangeal joint of the 5th finger6PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0009471Contracture of the proximal interphalangeal joint of the 3rd finger6PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0010212Flexion contracture of the hallux6PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0009538Contracture of the distal interphalangeal joint of the 2nd finger6PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0001836Camptodactyly of toe6PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0009319Joint contracture of the 3rd finger6PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0010345Flexion contracture of the 5th toe6PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0009276Contracture of the proximal interphalangeal joint of the 4th finger6PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0010339Flexion contracture of the 4th toe6PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0009469Contracture of the distal interphalangeal joint of the 3rd finger6PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0009274Joint contracture of the 4th finger6PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0010333Flexion contracture of 3rd toe6PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0009185Contracture of the proximal interphalangeal joint of the 5th finger6PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0010327Flexion contracture of the 2nd toe6PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0009275Contracture of the distal interphalangeal joint of the 4th finger6PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0001215Camptodactyly of 2nd-5th fingers6PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0009540Contracture of the proximal interphalangeal joint of the 2nd finger6PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0009183Joint contracture of the 5th finger6PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0009600Flexion contracture of thumb6PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0006866Midline central nervous system lipomas6PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0009275Contracture of the distal interphalangeal joint of the 4th finger7PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0009540Contracture of the proximal interphalangeal joint of the 2nd finger7PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0030675Contracture of proximal interphalangeal joints of 2nd-5th fingers7PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0009184Contracture of the distal interphalangeal joint of the 5th finger7PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0009471Contracture of the proximal interphalangeal joint of the 3rd finger7PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0100490Camptodactyly of finger7PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0009538Contracture of the distal interphalangeal joint of the 2nd finger7PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0009276Contracture of the proximal interphalangeal joint of the 4th finger7PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0009469Contracture of the distal interphalangeal joint of the 3rd finger7PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0009185Contracture of the proximal interphalangeal joint of the 5th finger7PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0009697Contracture of the distal interphalangeal joint of the fingers7PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0006931Pericallosal lipoma7PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0009540Contracture of the proximal interphalangeal joint of the 2nd finger7PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0030675Contracture of proximal interphalangeal joints of 2nd-5th fingers7PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0009184Contracture of the distal interphalangeal joint of the 5th finger7PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0009471Contracture of the proximal interphalangeal joint of the 3rd finger7PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0100490Camptodactyly of finger7PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0009538Contracture of the distal interphalangeal joint of the 2nd finger7PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0009276Contracture of the proximal interphalangeal joint of the 4th finger7PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0009469Contracture of the distal interphalangeal joint of the 3rd finger7PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0009185Contracture of the proximal interphalangeal joint of the 5th finger7PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0009697Contracture of the distal interphalangeal joint of the fingers7PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0009275Contracture of the distal interphalangeal joint of the 4th finger7PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0006931Pericallosal lipoma7PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0100358Contracture of the metatarsophalangeal joint of the 4th toe7PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0009470Contracture of the metacarpophalangeal joint of the 3rd finger7PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0100352Contracture of the distal interphalangeal joint of the 2nd toe7PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0100351Contractures of the proximal interphalangeal joint of the 5th toe7PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0100357Contracture of the metatarsophalangeal joint of the 3rd toe7PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0009624Contractures of the carpometacarpal joint of the thumb7PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0100350Contracture of the proximal interphalangeal joint of the 4th toe7PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0100356Contracture of the metatarsophalangeal joint of the 2nd toe7PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0009277Contracture of the metacarpophalangeal joint of the 4th finger7PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0100349Contracture of the proximal interphalangeal joint of the 3rd toe7PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0009626Contractures of the interphalangeal joint of the thumb7PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0100348Contracture of the proximal interphalangeal joint of the 2nd toe7PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0010214Contracture of the interphalangeal joint of the hallux7PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0009186Contracture of the metacarpophalangeal joint of the 5th finger7PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0009625Contractures of the metacarpophalangeal joint of the thumb7PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0100359Contracture of the metatarsophalangeal joint of the 5th toe7PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0010213Contracture of the tarsometatarsal joint of the hallux7PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0009539Contracture of the metacarpophalangeal joint of the 2nd finger7PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0100354Contracture of the distal interphalangeal joint of the 4th toe7PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0100355Contractures of the distal interphalangeal joint of the 5th toe7PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0100353Contracture of the distal interphalangeal joint of the 3rd toe7PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0010215Contractures of the metatarsophalangeal joint of the hallux7PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0009470Contracture of the metacarpophalangeal joint of the 3rd finger7PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0100352Contracture of the distal interphalangeal joint of the 2nd toe7PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0100351Contractures of the proximal interphalangeal joint of the 5th toe7PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0100357Contracture of the metatarsophalangeal joint of the 3rd toe7PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0009624Contractures of the carpometacarpal joint of the thumb7PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0100350Contracture of the proximal interphalangeal joint of the 4th toe7PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0100356Contracture of the metatarsophalangeal joint of the 2nd toe7PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0009277Contracture of the metacarpophalangeal joint of the 4th finger7PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0100349Contracture of the proximal interphalangeal joint of the 3rd toe7PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0009626Contractures of the interphalangeal joint of the thumb7PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0100348Contracture of the proximal interphalangeal joint of the 2nd toe7PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0010214Contracture of the interphalangeal joint of the hallux7PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0009186Contracture of the metacarpophalangeal joint of the 5th finger7PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0009625Contractures of the metacarpophalangeal joint of the thumb7PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0100359Contracture of the metatarsophalangeal joint of the 5th toe7PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0010213Contracture of the tarsometatarsal joint of the hallux7PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0009539Contracture of the metacarpophalangeal joint of the 2nd finger7PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0100354Contracture of the distal interphalangeal joint of the 4th toe7PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0100355Contractures of the distal interphalangeal joint of the 5th toe7PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0100353Contracture of the distal interphalangeal joint of the 3rd toe7PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0010215Contractures of the metatarsophalangeal joint of the hallux7PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0100358Contracture of the metatarsophalangeal joint of the 4th toe7PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0001215Camptodactyly of 2nd-5th fingers8PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0034014Tubulonodular pericallosal lipoma8PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0001215Camptodactyly of 2nd-5th fingers8PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0034014Tubulonodular pericallosal lipoma8PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0009185Contracture of the proximal interphalangeal joint of the 5th finger8PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0009275Contracture of the distal interphalangeal joint of the 4th finger8PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0009540Contracture of the proximal interphalangeal joint of the 2nd finger8PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0009184Contracture of the distal interphalangeal joint of the 5th finger8PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0009471Contracture of the proximal interphalangeal joint of the 3rd finger8PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0009538Contracture of the distal interphalangeal joint of the 2nd finger8PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0005617Bilateral camptodactyly8PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0009276Contracture of the proximal interphalangeal joint of the 4th finger8PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0005879Congenital finger flexion contractures8PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0009469Contracture of the distal interphalangeal joint of the 3rd finger8PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0034013Curvilinear pericallosal lipoma8PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0009185Contracture of the proximal interphalangeal joint of the 5th finger8PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0009275Contracture of the distal interphalangeal joint of the 4th finger8PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0009540Contracture of the proximal interphalangeal joint of the 2nd finger8PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0009184Contracture of the distal interphalangeal joint of the 5th finger8PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0009471Contracture of the proximal interphalangeal joint of the 3rd finger8PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0009538Contracture of the distal interphalangeal joint of the 2nd finger8PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0005617Bilateral camptodactyly8PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0009276Contracture of the proximal interphalangeal joint of the 4th finger8PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0005879Congenital finger flexion contractures8PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0009469Contracture of the distal interphalangeal joint of the 3rd finger8PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0034013Curvilinear pericallosal lipoma8PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
HP:0003549HP:0030675Contracture of proximal interphalangeal joints of 2nd-5th fingers9PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM13048804173410
HP:0003549HP:0030675Contracture of proximal interphalangeal joints of 2nd-5th fingers9PDGFRB CL E G H5159228550Infantile myofibromatosis 1228550C0432284OMIM12838804173410
 
HPO disease - gene - phenotype less frequent non-typical associations:


Genes (1115) :ABCA4 ABCC6 ABCC8 ABCC9 ABCD4 ABHD12 ABL1 ACADS ACTA1 ACTA2 ACTB ACTC1 ACTG2 ACTN2 ADA2 ADAMTS2 ADAMTS3 ADAMTSL2 ADAR ADCY6 ADGRG6 ADGRV1 AEBP1 AGA AGBL5 AGGF1 AGPAT2 AGRN AHI1 AHR AHSG AIFM1 AIMP1 AIRE AKT1 AKT2 ALB ALDH18A1 ALDH3A2 ALG1 ALG13 ALG14 ALG2 ALG3 ALG9 ALMS1 ALPL ALS2 ALX1 ALX3 AMBN AMELX AMER1 AMH AMHR2 AMTN ANKH ANKLE2 ANKRD1 ANO5 ANOS1 ANTXR1 ANTXR2 AP1S2 AP2S1 AP4B1 AP4E1 AP4S1 APC AR ARHGEF18 ARID1A ARID1B ARID2 ARL2BP ARL3 ARL6 ARSB ARVCF ARX ASCC1 ASXL1 ATAD1 ATP6V0A2 ATP6V1A ATP6V1E1 ATP7A ATP7B ATR ATRIP ATRX AUTS2 B3GALT6 B3GAT3 B3GLCT B4GALT7 BAG3 BANF1 BAZ1B BBS2 BCL11B BCOR BCR BEST1 BGN BHLHA9 BICD2 BIN1 BLNK BMP1 BMP4 BMPER BRAT1 BRCA1 BRCA2 BRIP1 BRPF1 BSCL2 BTK BTNL2 C12ORF65 C19ORF12 C1R C1S C8ORF37 CA4 CACNA1A CACNA1E CANT1 CAPN3 CARMIL2 CAV1 CAVIN1 CBS CC2D2A CCBE1 CCDC22 CCDC47 CCDC8 CCN2 CCN6 CCR6 CD79A CD79B CD96 CDC42 CDC45 CDC6 CDC73 CDCA7 CDH11 CDH23 CDH3 CDHR1 CDK13 CDK5 CDKL5 CDKN1A CDKN1B CDKN1C CDKN2B CDKN2C CDT1 CENPE CENPJ CEP120 CEP152 CERKL CFL2 CHAT CHD7 CHMP1A CHN1 CHRNA1 CHRNB1 CHRND CHRNE CHRNG CHST14 CHST3 CHUK CIB2 CIDEC CLCF1 CLDN1 CLDN19 CLEC7A CLIC2 CLIP2 CLMP CLRN1 CNGA1 CNGB1 CNNM4 CNTN1 CNTNAP1 COG1 COG6 COL11A1 COL11A2 COL12A1 COL13A1 COL17A1 COL1A1 COL1A2 COL25A1 COL2A1 COL3A1 COL5A1 COL5A2 COL6A1 COL6A2 COL6A3 COL7A1 COLEC10 COLEC11 COMT COQ7 COX1 COX2 COX3 COX7B CPT2 CRB1 CREBBP CRKL CRLF1 CRPPA CRX CRYAB CSRP3 CTDP1 CTNND2 CTSC CUL4B CUL7 CYBA CYBB CYP26C1 CYP27B1 DACT1 DAG1 DARS2 DDHD2 DDOST DDR2 DDX59 DES DGCR2 DGCR6 DGCR8 DHCR24 DHCR7 DHDDS DHODH DHX38 DIS3L2 DLL3 DLX3 DMD DMP1 DMPK DNA2 DNAJB6 DNAJC21 DNM2 DNMT3A DNMT3B DOK7 DOLK DPAGT1 DPF2 DPM1 DPM2 DSE DSG2 DSPP DST DUOX2 DUOXA2 DUSP6 DVL1 DVL3 DYM DYNC2H1 DYSF EBP ECE1 ECEL1 ECM1 EED EFEMP2 EFNB1 EHMT1 ELMO2 ELN ELOVL4 EMD EMG1 ENAM ENPP1 EOGT EP300 EPCAM ERBB3 ERCC1 ERCC2 ERCC4 ERCC5 ERCC6 ERCC8 ERGIC1 ERLIN1 ERLIN2 ESCO2 ESS2 EXOSC3 EXOSC8 EXOSC9 EYS EZH2 FAM161A FAM20A FAM20C FAM83H FAN1 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FAT4 FBLN5 FBN1 FBN2 FERMT1 FGD1 FGF10 FGF17 FGF3 FGF8 FGFR1 FGFR2 FGFR3 FH FHL1 FHL2 FIG4 FKBP10 FKBP14 FKRP FKTN FLCN FLI1 FLNA FLNB FLRT1 FLT4 FLVCR1 FLVCR2 FOS FOXC2 FOXE3 FOXG1 FRAS1 FREM1 FREM2 FSCN2 FTO FUCA1 FUT8 FXYD2 FZD2 GABBR2 GABRD GAD1 GALNS GALNT3 GATA1 GATA2 GATA4 GATA6 GATAD1 GBA GBE1 GCH1 GCK GCM2 GDAP1 GDF1 GDF5 GFPT1 GJA1 GJB1 GJB2 GJC2 GLB1 GLE1 GLI3 GLIS3 GLRA1 GLRB GLUL GMNN GMPPB GNA11 GNAS GNE GNPAT GNPTAB GNRH1 GNRHR GNS GORAB GP1BB GPC3 GPC4 GPC6 GPHN GPKOW GRHL2 GRID2 GRIP1 GSC GTF2H5 GTF2I GTF2IRD1 GUCA1B GUSB H19 H19-ICR HACD1 HBA1 HBA2 HCCS HDAC4 HDAC8 HELLS HES7 HESX1 HFE HGSNAT HIC1 HIKESHI HINT1 HIRA HIST1H1E HLA-A HLA-DRB1 HOXD13 HRAS HS6ST1 HSPD1 HSPG2 HUWE1 HYLS1 HYMAI IARS2 IBA57 IDH3B IDS IDUA IFIH1 IFITM5 IFT122 IFT140 IFT172 IFT43 IFT52 IFT80 IFT88 IGF1R IGF2 IGHM IGHMBP2 IGLL1 IKBKG IL17F IL17RA IL17RC IMPDH1 IMPG2 INPP5E INPP5K INS INSR IRF5 IRX5 ISL1 ITCH ITGA6 ITGA7 ITGB4 ITGB6 IYD JMJD1C KAT6B KBTBD13 KCNA1 KCNAB2 KCNH1 KCNJ1 KCNJ11 KCNJ2 KCNJ6 KCNJ8 KCNQ1 KCNQ1OT1 KDM5C KDM6A KIAA0319L KIAA0586 KIAA1109 KIAA1549 KIF11 KIF14 KIF1A KIF5C KIF7 KISS1 KISS1R KIZ KLC2 KLHL40 KLHL41 KLHL7 KLHL9 KLK4 KLLN KMT2A KMT2D KRAS KRT1 KRT14 KRT5 KY L1CAM LAGE3 LAMA2 LAMA3 LAMA4 LAMB3 LAMC2 LARGE1 LBR LCK LDB3 LEMD3 LETM1 LFNG LGI4 LHX3 LHX4 LIAS LIFR LIMK1 LIMS2 LIPE LMBR1 LMNA LMNB2 LMOD1 LMOD3 LONP1 LOX LPIN2 LRAT LRP2 LRP4 LRRC8A LTBP3 LTBP4 MAD2L2 MAF MAFB MAGEL2 MAK MAN2B1 MAP3K20 MAP3K7 MAPK1 MAPRE2 MASP1 MAT2A MBTPS2 MC4R MCTP2 MECP2 MED12 MEGF10 MEGF8 MEIS2 MEN1 MERTK MESP2 MFAP5 MFN2 MKS1 MLH1 MLH3 MLXIPL MMP1 MMP2 MMP20 MPDU1 MSH2 MSH6 MSTO1 MTM1 MTOR MUSK MYBPC1 MYBPC3 MYH11 MYH2 MYH3 MYH6 MYH7 MYH8 MYL2 MYLK MYMK MYO7A MYO9A MYOD1 MYOT MYPN NAA10 NACC1 NALCN NAT8L NCF1 NCF2 NCSTN ND1 ND4 ND5 ND6 NDE1 NDUFAF4 NDUFB11 NEB NEBL NECTIN1 NECTIN4 NEDD4L NEFL NEK2 NEK9 NELFA NEU1 NEXN NF1 NFIA NFIX NIPBL NKX2-5 NKX3-2 NLRP3 NOD2 NOG NOTCH1 NOTCH2 NOTCH3 NPHP3 NPPA NR2E3 NRL NSD1 NSD2 NSDHL NSMF NSUN2 NT5C2 NTNG1 NTRK1 NUP107 NXN OBSL1 OCRL ODAPH OFD1 OPA1 ORAI1 ORC1 ORC4 ORC6 OSGEP OTUD6B OTULIN P3H1 P4HB PAFAH1B1 PALB2 PAX3 PAX8 PCARE PCDH15 PCNA PCNT PCSK1 PDE6A PDE6B PDE6G PDGFRB PDX1 PDZD7 PEX1 PEX2 PEX5 PEX6 PEX7 PHEX PHF6 PHGDH PI4KA PIEZO1 PIEZO2 PIGA PIGL PIGN PIGP PIGS PIGY PIK3CA PIK3CD PIK3R1 PIK3R2 PIP5K1C PITX1 PITX3 PLAA PLAGL1 PLCG2 PLD1 PLEC PLEKHG5 PLIN1 PLK4 PLN PLOD1 PLOD2 PLOD3 PLP1 PLXND1 PMM2 PMS1 PMS2 POLA1 POLD1 POLR1C POLR1D POLR3A POMC POMGNT1 POMK POMT1 POMT2 POP1 POR PORCN POU1F1 PPARG PPCS PPIB PPOX PPP3CA PPT1 PQBP1 PRCD PRDM12 PRDM16 PRDM5 PRG4 PRKACA PRKG1 PROK2 PROKR2 PROM1 PROP1 PRPF3 PRPF31 PRPF4 PRPF6 PRPF8 PRPH2 PSAT1 PSEN1 PSEN2 PSMB4 PSMB8 PSMB9 PTCH1 PTDSS1 PTEN PTF1A PTH1R PUF60 PYCR1 RAB18 RAB23 RAB3GAP2 RAD21 RAD51 RAD51C RAF1 RAP1A RAP1B RAPSN RARB RBBP8 RBM20 RBM28 RBP3 RDH12 REEP6 RERE REV3L RFC2 RFT1 RFWD3 RGR RHO RIN2 RIPPLY2 RLBP1 RNASEH2A RNASEH2B RNASEH2C RNR1 RNU4ATAC ROGDI ROM1 ROR2 RP1 RP2 RP9 RPE65 RPGR RPGRIP1L RPL10 RPS26 RPS28 RPS6KA3 RREB1 RTTN RUNX2 RYR1 SAG SALL1 SAMHD1 SATB2 SCAPER SCARF2 SCN4A SCN5A SDHA SDHAF1 SDHB SDHC SDHD SEC23B SEC24C SEC24D SELENON SEMA3E SEMA4A SEMA5A SEPSECS SERPINH1 SETBP1 SETD5 SGCA SGCD SGCG SH2B1 SH3BP2 SH3PXD2B SHANK3 SHH SHPK SIK3 SIL1 SIN3A SKI SLC12A1 SLC12A3 SLC12A6 SLC13A5 SLC16A2 SLC18A3 SLC1A2 SLC24A4 SLC25A1 SLC25A19 SLC25A24 SLC25A46 SLC26A2 SLC29A3 SLC2A10 SLC2A2 SLC35A1 SLC35A3 SLC35C1 SLC39A13 SLC39A14 SLC5A5 SLC5A7 SLC6A5 SLC6A9 SLC7A14 SLC9A6 SLX4 SMAD3 SMAD4 SMARCA2 SMARCA4 SMARCAD1 SMARCB1 SMARCE1 SMC1A SMC3 SMCHD1 SMG9 SMOC1 SMOC2 SNAP25 SNIP1 SNRNP200 SNRPB SNX14 SON SOX10 SOX11 SOX18 SPART SPATA7 SPECC1L SPEG SPG11 SPRED1 SPRTN SPRY4 SRCAP SRD5A3 STAC3 STAT3 STIM1 STRA6 STX16 STXBP1 SUFU SUZ12 SYNE1 SYNE2 SYT2 TAC3 TACR3 TAF1A TAPT1 TAZ TBC1D20 TBCD TBCE TBL2 TBR1 TBX1 TBX15 TBX3 TBX4 TCAP TCF3 TCF4 TCOF1 TCTN3 TENT5A TFAP2A TG TGDS TGFB1 TGFB2 TGFB3 TGFBI TGFBR1 TGFBR2 TGM1 THRA THRB TMCO1 TMEM165 TMEM43 TMEM67 TMEM70 TMPO TNFRSF11B TNFRSF1A TNNC1 TNNI2 TNNI3 TNNT1 TNNT2 TNNT3 TNPO3 TNXB TOPORS TOR1AIP1 TP53RK TP63 TPM1 TPM2 TPM3 TPO TPRKB TRAF3IP2 TRAF7 TRAIP TREM2 TREX1 TRHR TRIM2 TRIP11 TRIP4 TRMT10A TRNE TRNF TRNH TRNK TRNL1 TRNP TRNQ TRNS1 TRNS2 TRNW TRPS1 TRPV3 TRPV4 TSC1 TSC2 TSEN54 TSHB TSHR TTC7A TTC8 TTN TUB TUBB TUBB3 TULP1 TWIST2 TXNRD2 TYROBP UBA1 UBE2T UCHL1 UFD1 UNC80 UPF3B UROS USH1C USH1G USH2A USP8 VAMP1 VANGL1 VANGL2 VCL VDR VEGFC VIPAS39 VMA21 VPS11 VPS33A VPS33B VPS53 VRK1 WASHC5 WDR11 WDR19 WDR34 WDR35 WDR4 WDR60 WDR72 WDR73 WHRN WNT4 WNT5A WNT7A WRN WT1 XRCC2 XRCC4 XYLT1 YWHAE ZBTB20 ZBTB24 ZBTB42 ZC4H2 ZDHHC9 ZEB1 ZFP57 ZFPM2 ZIC3 ZMPSTE24 ZNF335 ZNF408 ZNF469 ZNF513 ZNHIT3 ZSWIM6

Diseases (1149) :228550 201470 171430 616852 1901 208400 90308 528 2850 238329 300816 616603 608540 300884 616228 263210 64 611307 304340 614066 613744 614067 309510 847 75496 271640 614008 300166 255200 33110 614498 47 797 617106 253600 220393 613327 394 253290 616313 601776 263463 215150 616471 616470 1310 1899 609162 254090 255600 79409 79408 226600 616733 180849 613869 233690 306400 398189 611105 98896 310200 603511 615368 160150 608093 614653 253601 530 194050 614457 144 601675 278760 1143 614678 616081 618065 284979 154700 184900 207410 300696 300718 300717 300695 300179 253800 611588 153100 225790 153400 230000 618005 603513 614038 77260 607706 200700 613480 610015 615351 222765 576 252940 2078 93329 616204 602471 253220 98791 252930 616881 612233 616007 309900 93473 93476 607014 308300 435628 614098 2526 614255 609541 615348 79503 607855 258 613154 1306 166700 614462 616827 2348 157973 90153 613205 275210 248370 77297 609628 615547 617760 309520 99947 609260 609180 310400 2053 193700 254940 617393 233700 233710 618237 256030 617201 607684 812 613330 615745 308050 613162 615883 617452 615919 215100 616843 617146 300868 617599 616809 602501 615513 614878 226670 612138 613723 609220 312920 212065 615381 264090 615249 613155 609308 613156 617396 95699 2092 79473 256730 90354 617591 614222 614225 612079 614833 98905 117000 255320 612952 682 252011 602771 608099 253700 606232 248800 218000 300523 617105 607196 616505 168569 208050 238459 266265 157965 617013 300243 3051 129200 616330 617140 275900 255995 2314 160565 616897 615663 601954 242300 1394 32960 608423 606408 609285 609284 2770 614594 156530 168400 611705 615491 93160 615907 310440 616683 617303 615851 608612 791 606176 255310 615688 51 616503 231178 608594 260600 744 79085 616000 601162 816 616227 146300 1416 2028 228600 600740 3258 1465 135900 567 300004 3197 357074 2834 219200 565 198 304150 277900 808 245600 904 269700 612526 606721 2616 1308 99880 143 99879 96253 231169 265000 435651 615238 59303 1334 300886 610 287 166200 259420 166220 79410 2556 309801 63260 300536 818 267000 2311 289176 273 352470 994 615042 605594 125490 125500 90349 614437 1520 304110 3019 98863 310300 133540 216400 208100 3103 219100 2908 2791 2396 610968 236670 99811 300244 320406 154020 79277 251071 2140 2255 600001 98808 2710 257850 148210 380 36 610199 145981 562 373 312870 2570 1001 199 465508 179 887 3071 610967 1515 270450 464 617404 972 241200 2322 616546 79399 69087 2065 615758 280 601559 435660 615980 98855 98853 264 1662 79474 740 181350 212112 151660 1458 222448 2143 2273 71529 1596 1762 305450 605637 324604 98911 616266 142690 605013 3253 122470 575 2591 256800 534 2750 505237 617099 2050 71528 3220 89936 248700 2059 614080 618143 3163 269880 521426 617527 257 254361 1900 301220 861 71526 613150 305600 604367 259440 616488 256040 2658 2969 2470 615524 304020 613309 606164 1452 424107 597 613811 613848 261197 118400 94065 613406 601678 263800 2963 1782 3342 284984 145410 616200 601186 2323 3138 261279 2896 1297 113620 615582 602082 60030 239000 285 1071 1896 616777 184260 486815 1349 805 538 191100 613254 225753 301830 263700 466934 607596 251300 139466 611812 902 3097 194080 616248 610187 229200 99885 99886 1517 239850 154 614857 617602 2020 171439 171436 171433 161800 91387 64755 2241 2604 225410 616287 618000 93 98914 240300 615109 90348 219150 270200 601110 136760 616270 301200 300373 2856 261550 617607 118600 206549 432 2067 230740 1568 79665 175100 99429 300068 253200 2508 616867 97297 605039 618011 278250 617403 617402 614564 210600 301040 615834 709 261540 130070 617237 309800 261330 300989 607539 3329 363454 618291 614856 608022 84 617333 363400 320375 320370 75392 130080 617174 618285 267 618131 236200 1454 235510 300963 7 618268 211750 616737 2268 1299 225280 617360 616342 652 276152 130650 616300 254210 214800 614961 233 608930 608931 2990 613630 607626 2196 248190 2301 217080 1873 612540 618186 616286 611209 615328 2021 228520 79402 79406 130060 617821 225320 93296 156550 184250 130050 2500 286 130000 158673 89839 79411 89843 89841 231568 89842 131750 131705 293843 550 272430 281 85293 264700 2919 192430 602398 2849 3352 104510 617052 615879 208150 91131 608799 615539 125420 615425 95716 3107 180700 616331 223800 93271 35173 615065 3447 617561 96147 606893 123700 104500 204650 615297 607598 1466 610758 610965 616570 214150 209951 277590 1031 204690 259775 130900 3412 616006 2462 2833 616914 115 121050 915 305400 149730 3366 2645 613001 166250 190440 1555 606812 611228 2771 614557 2308 90652 2484 309350 311300 304120 1263 272460 88628 609033 88632 2052 248450 612938 349 253000 211900 85212 608013 232500 208530 164200 602540 230500 253010 611890 253310 672 175700 149400 616835 79444 94089 79443 103580 612462 612463 269921 252500 231070 258315 616029 584 2128 226307 531 617537 610713 800 1865 255800 236680 96191 615330 607015 218330 508 246200 611174 93930 613385 79403 226730 616221 85201 135500 170390 617822 616258 2836 615282 200990 607131 615731 204700 89838 79400 79396 131760 79404 226700 245660 104530 79405 215140 169400 617468 280365 363618 79084 79087 616165 600373 601216 613177 601088 248500 617137 2505 257920 308205 308800 778 65759 614976 261190 131100 249000 612529 616638 614335 614915 601680 178110 608837 158300 618198 276432 300855 614063 613573 614262 617022 256550 139474 613735 602535 95712 186580 616028 955 102500 2789 130720 267010 320396 1507 300555 309000 614832 311200 300209 612782 224690 613800 617729 610915 217385 218700 210720 601812 234580 614866 214110 307800 79351 2671 256520 616531 2461 1154 114300 108145 280000 280633 276280 615108 611369 212093 280356 613877 225400 570 201750 79083 618265 309500 614170 208250 615830 2615 77301 610828 151050 158350 609069 508488 614438 201000 616326 244310 217335 613075 1946 226750 268310 113000 435938 300998 303600 119600 107480 612313 798 137834 48652 440713 182212 615887 613710 2095 612289 93298 56304 600972 602782 227810 615553 274400 617143 617301 85278 613795 2588 139210 603457 2250 125400 614501 616354 163746 137940 1519 145420 136140 612783 617193 188400 260660 181450 614815 617952 616145 1328 131300 614816 609192 610168 97927 614450 213980 614727 614052 603543 108120 618164 99832 93299 616866 616033 600175 90674 275100 90673 436252 243150 200110 920 277440 613404 208085 614376 613610 613211 616541 3454 314580 609141 306955 90154 615095 758 97244 2136 231050 201 176920 447757 353327 306542 391474 616681 2176 247806 251056 612954 568 2712 615290 169186 607932 615043 1425 220402 208230 2554 3095 143095 1545 75840 226650 158810 608836 48431 678 613818 320380 271665 246 1270 610756 401785 268300 269000 83 85164 610474 300280 259450 272 122 135150 1826 305620 1606 3250 93404 616395 324442 93406 186300 85328 604320 3047 606170 85279 399081 496689 617114 2466 307000 608840 1879 3206 3332 93405 616516 176670 2774 776 614399 2398 259600 502423 617675 1146 551 399103 90340 210000 896 1529 148820 127 376 612918 603387 186550 611067 612394 109 156400 210710 616651 600920 3208 618162 59 617239 628 222600 612350 1658 616920 117650 615959 616668 611431 2044 612713 1617 93333 2753 1388 1194 98902 605355 617072 615490 77258 2635 600638 1145 616801 182940 276820 3042 259050 300799 603671 612674 607225 370980 613870 606612 607155 302800 186000 218040 609200 611091 62 353 1106 206920 2596 600145 1827
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.