Human Phenotype Ontology 
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All (HP:0000001)help
Parent Node:
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Phenotypic abnormality (HP:0000118)help
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Growth abnormality (HP:0001507)help
Term ID: 1507
Name: Growth abnormality
Synonym: Abnormal growth; Growth abnormality; Growth issue
Definition:
Comments:
Reference: HP:0001507
Genes and Diseases:
 
       Child Nodes:
........expandAbnormality of body height (HP:0000002) help
................... HP:0000098 Tall stature
................... HP:0004322 Short stature
................... HP:0012772 Abnormal upper to lower segment ratio
........expandGrowth delay (HP:0001510) help
................... HP:0000823 Delayed puberty
................... HP:0001511 Intrauterine growth retardation
................... HP:0004322 Short stature
................... HP:0008897 Postnatal growth retardation
................... HP:0031087 Absent pubertal growth spurt
........expandAbnormality of body weight (HP:0004323) help
................... HP:0004324 Increased body weight
................... HP:0004325 Decreased body weight
................... HP:0031818 Abnormal waist to hip ratio
................... HP:0045081 Abnormality of body mass index
........expandIncreased body fat percentage (HP:0025521) help
........expandHeterotaxy (HP:0030853) help
................... HP:0011620 Abnormality of abdominal situs
................... HP:0031853 Isomerism
........expandAsymmetric growth (HP:0100555) help
................... HP:0001528 Hemihypertrophy
................... HP:0100556 Hemiatrophy
................... HP:0100559 Lower limb asymmetry
................... HP:0100560 Upper limb asymmetry

 Sister Nodes: 
..expandAbnormal cellular phenotype (HP:0025354) help
..expandAbnormality of blood and blood-forming tissues (HP:0001871) help
..expandAbnormality of connective tissue (HP:0003549) 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
..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:0001507HP:0001507Growth abnormality0ACAN CL E G H176165800Osteochondritis dissecans165800C0029421OMIM1542319155760
HP:0001507HP:0001507Growth abnormality0AR CL E G H367300068Androgen resistance syndrome300068C0039585OMIM1556644313700
HP:0001507HP:0001507Growth abnormality0BCKDHA CL E G H593248600Maple syrup urine disease248600C0024776OMIM1495986608348
HP:0001507HP:0001507Growth abnormality0BCKDHB CL E G H594248600Maple syrup urine disease248600C0024776OMIM1547987248611
HP:0001507HP:0001507Growth abnormality0COL1A1 CL E G H1277166200Osteogenesis imperfecta type I166200C0023931OMIM120162197120150
HP:0001507HP:0001507Growth abnormality0COL2A1 CL E G H1280609162Czech dysplasia metatarsal type609162C1836683OMIM118202200120140
HP:0001507HP:0001507Growth abnormality0CTNS CL E G H1497219900Juvenile nephropathic cystinosis219900C0268626OMIM16512518606272
HP:0001507HP:0001507Growth abnormality0CYP21A2 CL E G H158920191021-hydroxylase deficiency201910C0852654OMIM12732600613815
HP:0001507HP:0001507Growth abnormality0DBT CL E G H1629248600Maple syrup urine disease248600C0024776OMIM15822698248610
HP:0001507HP:0001507Growth abnormality0DIS3L2 CL E G H129563267000Renal hamartomas nephroblastomatosis and fetal gigantism267000C0796113OMIM1171428648614184
HP:0001507HP:0001507Growth abnormality0ELANE CL E G H1991202700Severe congenital neutropenia autosomal dominant202700C1859966OMIM14323309130130
HP:0001507HP:0001507Growth abnormality0ENPP1 CL E G H5167208000Arterial calcification of infancy208000C1859727OMIM14383356173335
HP:0001507HP:0001507Growth abnormality0FGFR2 CL E G H2263101200Acrocephalosyndactyly type I101200C0001193OMIM15673689176943
HP:0001507HP:0001507Growth abnormality0GNS CL E G H2799252940Mucopolysaccharidosis, MPS-III-D252940C0086650OMIM14284422607664
HP:0001507HP:0001507Growth abnormality0HGD CL E G H3081203500Alkaptonuria203500C0002066OMIM12724892607474
HP:0001507HP:0001507Growth abnormality0HGSNAT CL E G H138050252930Mucopolysaccharidosis, MPS-III-C252930C0086649OMIM184326527610453
HP:0001507HP:0001507Growth abnormality0KCNH1 CL E G H3756135500Zimmermann-Laband syndrome 1135500CN032818OMIM14136250603305
HP:0001507HP:0001507Growth abnormality0KCNJ2 CL E G H3759170390Andersen Tawil syndrome170390C1563715OMIM15006263600681
HP:0001507HP:0001507Growth abnormality0LRP5 CL E G H4041144750Worth disease144750C0432273OMIM113546697603506
HP:0001507HP:0001507Growth abnormality0MGP CL E G H4256245150Keutel syndrome245150C1855607OMIM11297060154870
HP:0001507HP:0001507Growth abnormality0MT-CO1 CL E G H4512540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17419516030
HP:0001507HP:0001507Growth abnormality0MT-CO2 CL E G H4513540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17421516040
HP:0001507HP:0001507Growth abnormality0MT-CO3 CL E G H4514540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17422516050
HP:0001507HP:0001507Growth abnormality0MT-CYB CL E G H4519540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17427516020
HP:0001507HP:0001507Growth abnormality0MT-ND1 CL E G H4535540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17455516000
HP:0001507HP:0001507Growth abnormality0MT-ND5 CL E G H4540540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17461516005
HP:0001507HP:0001507Growth abnormality0MT-ND6 CL E G H4541540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17462516006
HP:0001507HP:0001507Growth abnormality0MT-TC CL E G H4511540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17477590020
HP:0001507HP:0001507Growth abnormality0MT-TF CL E G H4558540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17481590070
HP:0001507HP:0001507Growth abnormality0MT-TK CL E G H4566540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17489590060
HP:0001507HP:0001507Growth abnormality0MT-TL1 CL E G H4567540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17490590050
HP:0001507HP:0001507Growth abnormality0MT-TQ CL E G H4572540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17495590030
HP:0001507HP:0001507Growth abnormality0MT-TS1 CL E G H4574540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17497590080
HP:0001507HP:0001507Growth abnormality0MT-TS2 CL E G H4575540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17498590085
HP:0001507HP:0001507Growth abnormality0MT-TV CL E G H4577540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17500590105
HP:0001507HP:0001507Growth abnormality0MT-TW CL E G H4578540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17501590095
HP:0001507HP:0001507Growth abnormality0PDGFRB CL E G H5159601812Premature aging syndrome, Penttinen type601812C1866182OMIM13458804173410
HP:0001507HP:0001507Growth abnormality0PIGL CL E G H9487280000Zunich neuroectodermal syndrome280000C1848392OMIM11278966605947
HP:0001507HP:0001507Growth abnormality0PSMB8 CL E G H5696256040Nakajo syndrome256040C1850568OMIM11619545177046
HP:0001507HP:0001507Growth abnormality0SGSH CL E G H6448252900Mucopolysaccharidosis, MPS-III-A252900C0086647OMIM196310818605270
HP:0001507HP:0001507Growth abnormality0SLC26A3 CL E G H1811214700Congenital secretory diarrhea, chloride type214700C0267662OMIM13563018126650
HP:0001507HP:0001507Growth abnormality0UPF3B CL E G H65109300676Mental retardation, syndromic 14, X-linked300676C1970822OMIM131420439300298
HP:0001507HP:0033795Growth without growth hormone1ACAN CL E G H176165800Osteochondritis dissecans165800C0029421OMIM1542319155760
HP:0001507HP:0100555Asymmetric growth1ACAN CL E G H176165800Osteochondritis dissecans165800C0029421OMIM1542319155760
HP:0001507HP:0004323Abnormality of body weight1ACAN CL E G H176165800Osteochondritis dissecans165800C0029421OMIM1542319155760
HP:0001507HP:0033794Acral overgrowth1ACAN CL E G H176165800Osteochondritis dissecans165800C0029421OMIM1542319155760
HP:0001507HP:0025521Increased body fat percentage1ACAN CL E G H176165800Osteochondritis dissecans165800C0029421OMIM1542319155760
HP:0001507HP:0000002Abnormality of body height1ACAN CL E G H176165800Osteochondritis dissecans165800C0029421OMIM1542319155760
HP:0001507HP:0001510Growth delay1ACAN CL E G H176165800Osteochondritis dissecans165800C0029421OMIM1542319155760
HP:0001507HP:0030853Heterotaxy1ACAN CL E G H176165800Osteochondritis dissecans165800C0029421OMIM1542319155760
HP:0001507HP:0041079Decreased body fat percentage1ACAN CL E G H176165800Osteochondritis dissecans165800C0029421OMIM1542319155760
HP:0001507HP:0033794Acral overgrowth1AR CL E G H367300068Androgen resistance syndrome300068C0039585OMIM1556644313700
HP:0001507HP:0004323Abnormality of body weight1AR CL E G H367300068Androgen resistance syndrome300068C0039585OMIM1556644313700
HP:0001507HP:0000002Abnormality of body height1AR CL E G H367300068Androgen resistance syndrome300068C0039585OMIM1556644313700
HP:0001507HP:0001510Growth delay1AR CL E G H367300068Androgen resistance syndrome300068C0039585OMIM1556644313700
HP:0001507HP:0025521Increased body fat percentage1AR CL E G H367300068Androgen resistance syndrome300068C0039585OMIM1556644313700
HP:0001507HP:0041079Decreased body fat percentage1AR CL E G H367300068Androgen resistance syndrome300068C0039585OMIM1556644313700
HP:0001507HP:0030853Heterotaxy1AR CL E G H367300068Androgen resistance syndrome300068C0039585OMIM1556644313700
HP:0001507HP:0100555Asymmetric growth1AR CL E G H367300068Androgen resistance syndrome300068C0039585OMIM1556644313700
HP:0001507HP:0033795Growth without growth hormone1AR CL E G H367300068Androgen resistance syndrome300068C0039585OMIM1556644313700
HP:0001507HP:0030853Heterotaxy1BCKDHA CL E G H593248600Maple syrup urine disease248600C0024776OMIM1495986608348
HP:0001507HP:0041079Decreased body fat percentage1BCKDHA CL E G H593248600Maple syrup urine disease248600C0024776OMIM1495986608348
HP:0001507HP:0100555Asymmetric growth1BCKDHA CL E G H593248600Maple syrup urine disease248600C0024776OMIM1495986608348
HP:0001507HP:0033795Growth without growth hormone1BCKDHA CL E G H593248600Maple syrup urine disease248600C0024776OMIM1495986608348
HP:0001507HP:0004323Abnormality of body weight1BCKDHA CL E G H593248600Maple syrup urine disease248600C0024776OMIM1495986608348
HP:0001507HP:0033794Acral overgrowth1BCKDHA CL E G H593248600Maple syrup urine disease248600C0024776OMIM1495986608348
HP:0001507HP:0000002Abnormality of body height1BCKDHA CL E G H593248600Maple syrup urine disease248600C0024776OMIM1495986608348
HP:0001507HP:0025521Increased body fat percentage1BCKDHA CL E G H593248600Maple syrup urine disease248600C0024776OMIM1495986608348
HP:0001507HP:0001510Growth delay1BCKDHA CL E G H593248600Maple syrup urine disease248600C0024776OMIM1495986608348
HP:0001507HP:0025521Increased body fat percentage1BCKDHB CL E G H594248600Maple syrup urine disease248600C0024776OMIM1547987248611
HP:0001507HP:0000002Abnormality of body height1BCKDHB CL E G H594248600Maple syrup urine disease248600C0024776OMIM1547987248611
HP:0001507HP:0001510Growth delay1BCKDHB CL E G H594248600Maple syrup urine disease248600C0024776OMIM1547987248611
HP:0001507HP:0030853Heterotaxy1BCKDHB CL E G H594248600Maple syrup urine disease248600C0024776OMIM1547987248611
HP:0001507HP:0041079Decreased body fat percentage1BCKDHB CL E G H594248600Maple syrup urine disease248600C0024776OMIM1547987248611
HP:0001507HP:0033795Growth without growth hormone1BCKDHB CL E G H594248600Maple syrup urine disease248600C0024776OMIM1547987248611
HP:0001507HP:0100555Asymmetric growth1BCKDHB CL E G H594248600Maple syrup urine disease248600C0024776OMIM1547987248611
HP:0001507HP:0004323Abnormality of body weight1BCKDHB CL E G H594248600Maple syrup urine disease248600C0024776OMIM1547987248611
HP:0001507HP:0033794Acral overgrowth1BCKDHB CL E G H594248600Maple syrup urine disease248600C0024776OMIM1547987248611
HP:0001507HP:0033794Acral overgrowth1COL1A1 CL E G H1277166200Osteogenesis imperfecta type I166200C0023931OMIM120162197120150
HP:0001507HP:0025521Increased body fat percentage1COL1A1 CL E G H1277166200Osteogenesis imperfecta type I166200C0023931OMIM120162197120150
HP:0001507HP:0001510Growth delay1COL1A1 CL E G H1277166200Osteogenesis imperfecta type I166200C0023931OMIM120162197120150
HP:0001507HP:0030853Heterotaxy1COL1A1 CL E G H1277166200Osteogenesis imperfecta type I166200C0023931OMIM120162197120150
HP:0001507HP:0041079Decreased body fat percentage1COL1A1 CL E G H1277166200Osteogenesis imperfecta type I166200C0023931OMIM120162197120150
HP:0001507HP:0004323Abnormality of body weight1COL1A1 CL E G H1277166200Osteogenesis imperfecta type I166200C0023931OMIM120162197120150
HP:0001507HP:0033795Growth without growth hormone1COL1A1 CL E G H1277166200Osteogenesis imperfecta type I166200C0023931OMIM120162197120150
HP:0001507HP:0100555Asymmetric growth1COL1A1 CL E G H1277166200Osteogenesis imperfecta type I166200C0023931OMIM120162197120150
HP:0001507HP:0000002Abnormality of body height1COL1A1 CL E G H1277166200Osteogenesis imperfecta type I166200C0023931OMIM120162197120150
HP:0001507HP:0025521Increased body fat percentage1COL2A1 CL E G H1280609162Czech dysplasia metatarsal type609162C1836683OMIM118202200120140
HP:0001507HP:0001510Growth delay1COL2A1 CL E G H1280609162Czech dysplasia metatarsal type609162C1836683OMIM118202200120140
HP:0001507HP:0030853Heterotaxy1COL2A1 CL E G H1280609162Czech dysplasia metatarsal type609162C1836683OMIM118202200120140
HP:0001507HP:0041079Decreased body fat percentage1COL2A1 CL E G H1280609162Czech dysplasia metatarsal type609162C1836683OMIM118202200120140
HP:0001507HP:0100555Asymmetric growth1COL2A1 CL E G H1280609162Czech dysplasia metatarsal type609162C1836683OMIM118202200120140
HP:0001507HP:0033795Growth without growth hormone1COL2A1 CL E G H1280609162Czech dysplasia metatarsal type609162C1836683OMIM118202200120140
HP:0001507HP:0033794Acral overgrowth1COL2A1 CL E G H1280609162Czech dysplasia metatarsal type609162C1836683OMIM118202200120140
HP:0001507HP:0004323Abnormality of body weight1COL2A1 CL E G H1280609162Czech dysplasia metatarsal type609162C1836683OMIM118202200120140
HP:0001507HP:0000002Abnormality of body height1COL2A1 CL E G H1280609162Czech dysplasia metatarsal type609162C1836683OMIM118202200120140
HP:0001507HP:0033794Acral overgrowth1CTNS CL E G H1497219900Juvenile nephropathic cystinosis219900C0268626OMIM16512518606272
HP:0001507HP:0004323Abnormality of body weight1CTNS CL E G H1497219900Juvenile nephropathic cystinosis219900C0268626OMIM16512518606272
HP:0001507HP:0025521Increased body fat percentage1CTNS CL E G H1497219900Juvenile nephropathic cystinosis219900C0268626OMIM16512518606272
HP:0001507HP:0000002Abnormality of body height1CTNS CL E G H1497219900Juvenile nephropathic cystinosis219900C0268626OMIM16512518606272
HP:0001507HP:0001510Growth delay1CTNS CL E G H1497219900Juvenile nephropathic cystinosis219900C0268626OMIM16512518606272
HP:0001507HP:0041079Decreased body fat percentage1CTNS CL E G H1497219900Juvenile nephropathic cystinosis219900C0268626OMIM16512518606272
HP:0001507HP:0030853Heterotaxy1CTNS CL E G H1497219900Juvenile nephropathic cystinosis219900C0268626OMIM16512518606272
HP:0001507HP:0100555Asymmetric growth1CTNS CL E G H1497219900Juvenile nephropathic cystinosis219900C0268626OMIM16512518606272
HP:0001507HP:0033795Growth without growth hormone1CTNS CL E G H1497219900Juvenile nephropathic cystinosis219900C0268626OMIM16512518606272
HP:0001507HP:0030853Heterotaxy1CYP21A2 CL E G H158920191021-hydroxylase deficiency201910C0852654OMIM12732600613815
HP:0001507HP:0041079Decreased body fat percentage1CYP21A2 CL E G H158920191021-hydroxylase deficiency201910C0852654OMIM12732600613815
HP:0001507HP:0033795Growth without growth hormone1CYP21A2 CL E G H158920191021-hydroxylase deficiency201910C0852654OMIM12732600613815
HP:0001507HP:0100555Asymmetric growth1CYP21A2 CL E G H158920191021-hydroxylase deficiency201910C0852654OMIM12732600613815
HP:0001507HP:0004323Abnormality of body weight1CYP21A2 CL E G H158920191021-hydroxylase deficiency201910C0852654OMIM12732600613815
HP:0001507HP:0033794Acral overgrowth1CYP21A2 CL E G H158920191021-hydroxylase deficiency201910C0852654OMIM12732600613815
HP:0001507HP:0025521Increased body fat percentage1CYP21A2 CL E G H158920191021-hydroxylase deficiency201910C0852654OMIM12732600613815
HP:0001507HP:0000002Abnormality of body height1CYP21A2 CL E G H158920191021-hydroxylase deficiency201910C0852654OMIM12732600613815
HP:0001507HP:0001510Growth delay1CYP21A2 CL E G H158920191021-hydroxylase deficiency201910C0852654OMIM12732600613815
HP:0001507HP:0033794Acral overgrowth1DBT CL E G H1629248600Maple syrup urine disease248600C0024776OMIM15822698248610
HP:0001507HP:0004323Abnormality of body weight1DBT CL E G H1629248600Maple syrup urine disease248600C0024776OMIM15822698248610
HP:0001507HP:0025521Increased body fat percentage1DBT CL E G H1629248600Maple syrup urine disease248600C0024776OMIM15822698248610
HP:0001507HP:0000002Abnormality of body height1DBT CL E G H1629248600Maple syrup urine disease248600C0024776OMIM15822698248610
HP:0001507HP:0001510Growth delay1DBT CL E G H1629248600Maple syrup urine disease248600C0024776OMIM15822698248610
HP:0001507HP:0030853Heterotaxy1DBT CL E G H1629248600Maple syrup urine disease248600C0024776OMIM15822698248610
HP:0001507HP:0041079Decreased body fat percentage1DBT CL E G H1629248600Maple syrup urine disease248600C0024776OMIM15822698248610
HP:0001507HP:0033795Growth without growth hormone1DBT CL E G H1629248600Maple syrup urine disease248600C0024776OMIM15822698248610
HP:0001507HP:0100555Asymmetric growth1DBT CL E G H1629248600Maple syrup urine disease248600C0024776OMIM15822698248610
HP:0001507HP:0041079Decreased body fat percentage1DIS3L2 CL E G H129563267000Renal hamartomas nephroblastomatosis and fetal gigantism267000C0796113OMIM1171428648614184
HP:0001507HP:0030853Heterotaxy1DIS3L2 CL E G H129563267000Renal hamartomas nephroblastomatosis and fetal gigantism267000C0796113OMIM1171428648614184
HP:0001507HP:0100555Asymmetric growth1DIS3L2 CL E G H129563267000Renal hamartomas nephroblastomatosis and fetal gigantism267000C0796113OMIM1171428648614184
HP:0001507HP:0033795Growth without growth hormone1DIS3L2 CL E G H129563267000Renal hamartomas nephroblastomatosis and fetal gigantism267000C0796113OMIM1171428648614184
HP:0001507HP:0033794Acral overgrowth1DIS3L2 CL E G H129563267000Renal hamartomas nephroblastomatosis and fetal gigantism267000C0796113OMIM1171428648614184
HP:0001507HP:0004323Abnormality of body weight1DIS3L2 CL E G H129563267000Renal hamartomas nephroblastomatosis and fetal gigantism267000C0796113OMIM1171428648614184
HP:0001507HP:0025521Increased body fat percentage1DIS3L2 CL E G H129563267000Renal hamartomas nephroblastomatosis and fetal gigantism267000C0796113OMIM1171428648614184
HP:0001507HP:0000002Abnormality of body height1DIS3L2 CL E G H129563267000Renal hamartomas nephroblastomatosis and fetal gigantism267000C0796113OMIM1171428648614184
HP:0001507HP:0001510Growth delay1DIS3L2 CL E G H129563267000Renal hamartomas nephroblastomatosis and fetal gigantism267000C0796113OMIM1171428648614184
HP:0001507HP:0025521Increased body fat percentage1ELANE CL E G H1991202700Severe congenital neutropenia autosomal dominant202700C1859966OMIM14323309130130
HP:0001507HP:0000002Abnormality of body height1ELANE CL E G H1991202700Severe congenital neutropenia autosomal dominant202700C1859966OMIM14323309130130
HP:0001507HP:0001510Growth delay1ELANE CL E G H1991202700Severe congenital neutropenia autosomal dominant202700C1859966OMIM14323309130130
HP:0001507HP:0041079Decreased body fat percentage1ELANE CL E G H1991202700Severe congenital neutropenia autosomal dominant202700C1859966OMIM14323309130130
HP:0001507HP:0030853Heterotaxy1ELANE CL E G H1991202700Severe congenital neutropenia autosomal dominant202700C1859966OMIM14323309130130
HP:0001507HP:0100555Asymmetric growth1ELANE CL E G H1991202700Severe congenital neutropenia autosomal dominant202700C1859966OMIM14323309130130
HP:0001507HP:0033795Growth without growth hormone1ELANE CL E G H1991202700Severe congenital neutropenia autosomal dominant202700C1859966OMIM14323309130130
HP:0001507HP:0033794Acral overgrowth1ELANE CL E G H1991202700Severe congenital neutropenia autosomal dominant202700C1859966OMIM14323309130130
HP:0001507HP:0004323Abnormality of body weight1ELANE CL E G H1991202700Severe congenital neutropenia autosomal dominant202700C1859966OMIM14323309130130
HP:0001507HP:0041079Decreased body fat percentage1ENPP1 CL E G H5167208000Arterial calcification of infancy208000C1859727OMIM14383356173335
HP:0001507HP:0030853Heterotaxy1ENPP1 CL E G H5167208000Arterial calcification of infancy208000C1859727OMIM14383356173335
HP:0001507HP:0100555Asymmetric growth1ENPP1 CL E G H5167208000Arterial calcification of infancy208000C1859727OMIM14383356173335
HP:0001507HP:0033795Growth without growth hormone1ENPP1 CL E G H5167208000Arterial calcification of infancy208000C1859727OMIM14383356173335
HP:0001507HP:0033794Acral overgrowth1ENPP1 CL E G H5167208000Arterial calcification of infancy208000C1859727OMIM14383356173335
HP:0001507HP:0004323Abnormality of body weight1ENPP1 CL E G H5167208000Arterial calcification of infancy208000C1859727OMIM14383356173335
HP:0001507HP:0025521Increased body fat percentage1ENPP1 CL E G H5167208000Arterial calcification of infancy208000C1859727OMIM14383356173335
HP:0001507HP:0000002Abnormality of body height1ENPP1 CL E G H5167208000Arterial calcification of infancy208000C1859727OMIM14383356173335
HP:0001507HP:0001510Growth delay1ENPP1 CL E G H5167208000Arterial calcification of infancy208000C1859727OMIM14383356173335
HP:0001507HP:0041079Decreased body fat percentage1FGFR2 CL E G H2263101200Acrocephalosyndactyly type I101200C0001193OMIM15673689176943
HP:0001507HP:0030853Heterotaxy1FGFR2 CL E G H2263101200Acrocephalosyndactyly type I101200C0001193OMIM15673689176943
HP:0001507HP:0100555Asymmetric growth1FGFR2 CL E G H2263101200Acrocephalosyndactyly type I101200C0001193OMIM15673689176943
HP:0001507HP:0033795Growth without growth hormone1FGFR2 CL E G H2263101200Acrocephalosyndactyly type I101200C0001193OMIM15673689176943
HP:0001507HP:0033794Acral overgrowth1FGFR2 CL E G H2263101200Acrocephalosyndactyly type I101200C0001193OMIM15673689176943
HP:0001507HP:0004323Abnormality of body weight1FGFR2 CL E G H2263101200Acrocephalosyndactyly type I101200C0001193OMIM15673689176943
HP:0001507HP:0025521Increased body fat percentage1FGFR2 CL E G H2263101200Acrocephalosyndactyly type I101200C0001193OMIM15673689176943
HP:0001507HP:0000002Abnormality of body height1FGFR2 CL E G H2263101200Acrocephalosyndactyly type I101200C0001193OMIM15673689176943
HP:0001507HP:0001510Growth delay1FGFR2 CL E G H2263101200Acrocephalosyndactyly type I101200C0001193OMIM15673689176943
HP:0001507HP:0004323Abnormality of body weight1GNS CL E G H2799252940Mucopolysaccharidosis, MPS-III-D252940C0086650OMIM14284422607664
HP:0001507HP:0033794Acral overgrowth1GNS CL E G H2799252940Mucopolysaccharidosis, MPS-III-D252940C0086650OMIM14284422607664
HP:0001507HP:0000002Abnormality of body height1GNS CL E G H2799252940Mucopolysaccharidosis, MPS-III-D252940C0086650OMIM14284422607664
HP:0001507HP:0001510Growth delay1GNS CL E G H2799252940Mucopolysaccharidosis, MPS-III-D252940C0086650OMIM14284422607664
HP:0001507HP:0025521Increased body fat percentage1GNS CL E G H2799252940Mucopolysaccharidosis, MPS-III-D252940C0086650OMIM14284422607664
HP:0001507HP:0041079Decreased body fat percentage1GNS CL E G H2799252940Mucopolysaccharidosis, MPS-III-D252940C0086650OMIM14284422607664
HP:0001507HP:0030853Heterotaxy1GNS CL E G H2799252940Mucopolysaccharidosis, MPS-III-D252940C0086650OMIM14284422607664
HP:0001507HP:0100555Asymmetric growth1GNS CL E G H2799252940Mucopolysaccharidosis, MPS-III-D252940C0086650OMIM14284422607664
HP:0001507HP:0033795Growth without growth hormone1GNS CL E G H2799252940Mucopolysaccharidosis, MPS-III-D252940C0086650OMIM14284422607664
HP:0001507HP:0004323Abnormality of body weight1HGD CL E G H3081203500Alkaptonuria203500C0002066OMIM12724892607474
HP:0001507HP:0033794Acral overgrowth1HGD CL E G H3081203500Alkaptonuria203500C0002066OMIM12724892607474
HP:0001507HP:0025521Increased body fat percentage1HGD CL E G H3081203500Alkaptonuria203500C0002066OMIM12724892607474
HP:0001507HP:0000002Abnormality of body height1HGD CL E G H3081203500Alkaptonuria203500C0002066OMIM12724892607474
HP:0001507HP:0001510Growth delay1HGD CL E G H3081203500Alkaptonuria203500C0002066OMIM12724892607474
HP:0001507HP:0030853Heterotaxy1HGD CL E G H3081203500Alkaptonuria203500C0002066OMIM12724892607474
HP:0001507HP:0041079Decreased body fat percentage1HGD CL E G H3081203500Alkaptonuria203500C0002066OMIM12724892607474
HP:0001507HP:0033795Growth without growth hormone1HGD CL E G H3081203500Alkaptonuria203500C0002066OMIM12724892607474
HP:0001507HP:0100555Asymmetric growth1HGD CL E G H3081203500Alkaptonuria203500C0002066OMIM12724892607474
HP:0001507HP:0030853Heterotaxy1HGSNAT CL E G H138050252930Mucopolysaccharidosis, MPS-III-C252930C0086649OMIM184326527610453
HP:0001507HP:0041079Decreased body fat percentage1HGSNAT CL E G H138050252930Mucopolysaccharidosis, MPS-III-C252930C0086649OMIM184326527610453
HP:0001507HP:0033795Growth without growth hormone1HGSNAT CL E G H138050252930Mucopolysaccharidosis, MPS-III-C252930C0086649OMIM184326527610453
HP:0001507HP:0100555Asymmetric growth1HGSNAT CL E G H138050252930Mucopolysaccharidosis, MPS-III-C252930C0086649OMIM184326527610453
HP:0001507HP:0033794Acral overgrowth1HGSNAT CL E G H138050252930Mucopolysaccharidosis, MPS-III-C252930C0086649OMIM184326527610453
HP:0001507HP:0004323Abnormality of body weight1HGSNAT CL E G H138050252930Mucopolysaccharidosis, MPS-III-C252930C0086649OMIM184326527610453
HP:0001507HP:0025521Increased body fat percentage1HGSNAT CL E G H138050252930Mucopolysaccharidosis, MPS-III-C252930C0086649OMIM184326527610453
HP:0001507HP:0000002Abnormality of body height1HGSNAT CL E G H138050252930Mucopolysaccharidosis, MPS-III-C252930C0086649OMIM184326527610453
HP:0001507HP:0001510Growth delay1HGSNAT CL E G H138050252930Mucopolysaccharidosis, MPS-III-C252930C0086649OMIM184326527610453
HP:0001507HP:0025521Increased body fat percentage1KCNH1 CL E G H3756135500Zimmermann-Laband syndrome 1135500CN032818OMIM14136250603305
HP:0001507HP:0000002Abnormality of body height1KCNH1 CL E G H3756135500Zimmermann-Laband syndrome 1135500CN032818OMIM14136250603305
HP:0001507HP:0001510Growth delay1KCNH1 CL E G H3756135500Zimmermann-Laband syndrome 1135500CN032818OMIM14136250603305
HP:0001507HP:0030853Heterotaxy1KCNH1 CL E G H3756135500Zimmermann-Laband syndrome 1135500CN032818OMIM14136250603305
HP:0001507HP:0041079Decreased body fat percentage1KCNH1 CL E G H3756135500Zimmermann-Laband syndrome 1135500CN032818OMIM14136250603305
HP:0001507HP:0033795Growth without growth hormone1KCNH1 CL E G H3756135500Zimmermann-Laband syndrome 1135500CN032818OMIM14136250603305
HP:0001507HP:0100555Asymmetric growth1KCNH1 CL E G H3756135500Zimmermann-Laband syndrome 1135500CN032818OMIM14136250603305
HP:0001507HP:0004323Abnormality of body weight1KCNH1 CL E G H3756135500Zimmermann-Laband syndrome 1135500CN032818OMIM14136250603305
HP:0001507HP:0033794Acral overgrowth1KCNH1 CL E G H3756135500Zimmermann-Laband syndrome 1135500CN032818OMIM14136250603305
HP:0001507HP:0100555Asymmetric growth1KCNJ2 CL E G H3759170390Andersen Tawil syndrome170390C1563715OMIM15006263600681
HP:0001507HP:0033795Growth without growth hormone1KCNJ2 CL E G H3759170390Andersen Tawil syndrome170390C1563715OMIM15006263600681
HP:0001507HP:0033794Acral overgrowth1KCNJ2 CL E G H3759170390Andersen Tawil syndrome170390C1563715OMIM15006263600681
HP:0001507HP:0004323Abnormality of body weight1KCNJ2 CL E G H3759170390Andersen Tawil syndrome170390C1563715OMIM15006263600681
HP:0001507HP:0025521Increased body fat percentage1KCNJ2 CL E G H3759170390Andersen Tawil syndrome170390C1563715OMIM15006263600681
HP:0001507HP:0000002Abnormality of body height1KCNJ2 CL E G H3759170390Andersen Tawil syndrome170390C1563715OMIM15006263600681
HP:0001507HP:0001510Growth delay1KCNJ2 CL E G H3759170390Andersen Tawil syndrome170390C1563715OMIM15006263600681
HP:0001507HP:0041079Decreased body fat percentage1KCNJ2 CL E G H3759170390Andersen Tawil syndrome170390C1563715OMIM15006263600681
HP:0001507HP:0030853Heterotaxy1KCNJ2 CL E G H3759170390Andersen Tawil syndrome170390C1563715OMIM15006263600681
HP:0001507HP:0033794Acral overgrowth1LRP5 CL E G H4041144750Worth disease144750C0432273OMIM113546697603506
HP:0001507HP:0004323Abnormality of body weight1LRP5 CL E G H4041144750Worth disease144750C0432273OMIM113546697603506
HP:0001507HP:0025521Increased body fat percentage1LRP5 CL E G H4041144750Worth disease144750C0432273OMIM113546697603506
HP:0001507HP:0000002Abnormality of body height1LRP5 CL E G H4041144750Worth disease144750C0432273OMIM113546697603506
HP:0001507HP:0001510Growth delay1LRP5 CL E G H4041144750Worth disease144750C0432273OMIM113546697603506
HP:0001507HP:0041079Decreased body fat percentage1LRP5 CL E G H4041144750Worth disease144750C0432273OMIM113546697603506
HP:0001507HP:0030853Heterotaxy1LRP5 CL E G H4041144750Worth disease144750C0432273OMIM113546697603506
HP:0001507HP:0100555Asymmetric growth1LRP5 CL E G H4041144750Worth disease144750C0432273OMIM113546697603506
HP:0001507HP:0033795Growth without growth hormone1LRP5 CL E G H4041144750Worth disease144750C0432273OMIM113546697603506
HP:0001507HP:0033795Growth without growth hormone1MGP CL E G H4256245150Keutel syndrome245150C1855607OMIM11297060154870
HP:0001507HP:0100555Asymmetric growth1MGP CL E G H4256245150Keutel syndrome245150C1855607OMIM11297060154870
HP:0001507HP:0004323Abnormality of body weight1MGP CL E G H4256245150Keutel syndrome245150C1855607OMIM11297060154870
HP:0001507HP:0033794Acral overgrowth1MGP CL E G H4256245150Keutel syndrome245150C1855607OMIM11297060154870
HP:0001507HP:0025521Increased body fat percentage1MGP CL E G H4256245150Keutel syndrome245150C1855607OMIM11297060154870
HP:0001507HP:0000002Abnormality of body height1MGP CL E G H4256245150Keutel syndrome245150C1855607OMIM11297060154870
HP:0001507HP:0001510Growth delay1MGP CL E G H4256245150Keutel syndrome245150C1855607OMIM11297060154870
HP:0001507HP:0030853Heterotaxy1MGP CL E G H4256245150Keutel syndrome245150C1855607OMIM11297060154870
HP:0001507HP:0041079Decreased body fat percentage1MGP CL E G H4256245150Keutel syndrome245150C1855607OMIM11297060154870
HP:0001507HP:0025521Increased body fat percentage1MT-CO1 CL E G H4512540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17419516030
HP:0001507HP:0000002Abnormality of body height1MT-CO1 CL E G H4512540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17419516030
HP:0001507HP:0001510Growth delay1MT-CO1 CL E G H4512540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17419516030
HP:0001507HP:0041079Decreased body fat percentage1MT-CO1 CL E G H4512540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17419516030
HP:0001507HP:0030853Heterotaxy1MT-CO1 CL E G H4512540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17419516030
HP:0001507HP:0100555Asymmetric growth1MT-CO1 CL E G H4512540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17419516030
HP:0001507HP:0033795Growth without growth hormone1MT-CO1 CL E G H4512540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17419516030
HP:0001507HP:0033794Acral overgrowth1MT-CO1 CL E G H4512540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17419516030
HP:0001507HP:0004323Abnormality of body weight1MT-CO1 CL E G H4512540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17419516030
HP:0001507HP:0004323Abnormality of body weight1MT-CO2 CL E G H4513540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17421516040
HP:0001507HP:0033794Acral overgrowth1MT-CO2 CL E G H4513540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17421516040
HP:0001507HP:0025521Increased body fat percentage1MT-CO2 CL E G H4513540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17421516040
HP:0001507HP:0000002Abnormality of body height1MT-CO2 CL E G H4513540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17421516040
HP:0001507HP:0001510Growth delay1MT-CO2 CL E G H4513540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17421516040
HP:0001507HP:0030853Heterotaxy1MT-CO2 CL E G H4513540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17421516040
HP:0001507HP:0041079Decreased body fat percentage1MT-CO2 CL E G H4513540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17421516040
HP:0001507HP:0033795Growth without growth hormone1MT-CO2 CL E G H4513540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17421516040
HP:0001507HP:0100555Asymmetric growth1MT-CO2 CL E G H4513540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17421516040
HP:0001507HP:0100555Asymmetric growth1MT-CO3 CL E G H4514540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17422516050
HP:0001507HP:0033795Growth without growth hormone1MT-CO3 CL E G H4514540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17422516050
HP:0001507HP:0033794Acral overgrowth1MT-CO3 CL E G H4514540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17422516050
HP:0001507HP:0004323Abnormality of body weight1MT-CO3 CL E G H4514540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17422516050
HP:0001507HP:0025521Increased body fat percentage1MT-CO3 CL E G H4514540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17422516050
HP:0001507HP:0000002Abnormality of body height1MT-CO3 CL E G H4514540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17422516050
HP:0001507HP:0001510Growth delay1MT-CO3 CL E G H4514540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17422516050
HP:0001507HP:0041079Decreased body fat percentage1MT-CO3 CL E G H4514540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17422516050
HP:0001507HP:0030853Heterotaxy1MT-CO3 CL E G H4514540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17422516050
HP:0001507HP:0025521Increased body fat percentage1MT-CYB CL E G H4519540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17427516020
HP:0001507HP:0001510Growth delay1MT-CYB CL E G H4519540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17427516020
HP:0001507HP:0030853Heterotaxy1MT-CYB CL E G H4519540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17427516020
HP:0001507HP:0041079Decreased body fat percentage1MT-CYB CL E G H4519540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17427516020
HP:0001507HP:0033795Growth without growth hormone1MT-CYB CL E G H4519540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17427516020
HP:0001507HP:0100555Asymmetric growth1MT-CYB CL E G H4519540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17427516020
HP:0001507HP:0004323Abnormality of body weight1MT-CYB CL E G H4519540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17427516020
HP:0001507HP:0033794Acral overgrowth1MT-CYB CL E G H4519540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17427516020
HP:0001507HP:0000002Abnormality of body height1MT-CYB CL E G H4519540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17427516020
HP:0001507HP:0033794Acral overgrowth1MT-ND1 CL E G H4535540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17455516000
HP:0001507HP:0004323Abnormality of body weight1MT-ND1 CL E G H4535540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17455516000
HP:0001507HP:0025521Increased body fat percentage1MT-ND1 CL E G H4535540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17455516000
HP:0001507HP:0000002Abnormality of body height1MT-ND1 CL E G H4535540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17455516000
HP:0001507HP:0001510Growth delay1MT-ND1 CL E G H4535540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17455516000
HP:0001507HP:0030853Heterotaxy1MT-ND1 CL E G H4535540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17455516000
HP:0001507HP:0041079Decreased body fat percentage1MT-ND1 CL E G H4535540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17455516000
HP:0001507HP:0033795Growth without growth hormone1MT-ND1 CL E G H4535540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17455516000
HP:0001507HP:0100555Asymmetric growth1MT-ND1 CL E G H4535540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17455516000
HP:0001507HP:0033795Growth without growth hormone1MT-ND5 CL E G H4540540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17461516005
HP:0001507HP:0100555Asymmetric growth1MT-ND5 CL E G H4540540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17461516005
HP:0001507HP:0004323Abnormality of body weight1MT-ND5 CL E G H4540540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17461516005
HP:0001507HP:0033794Acral overgrowth1MT-ND5 CL E G H4540540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17461516005
HP:0001507HP:0000002Abnormality of body height1MT-ND5 CL E G H4540540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17461516005
HP:0001507HP:0001510Growth delay1MT-ND5 CL E G H4540540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17461516005
HP:0001507HP:0025521Increased body fat percentage1MT-ND5 CL E G H4540540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17461516005
HP:0001507HP:0030853Heterotaxy1MT-ND5 CL E G H4540540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17461516005
HP:0001507HP:0041079Decreased body fat percentage1MT-ND5 CL E G H4540540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17461516005
HP:0001507HP:0030853Heterotaxy1MT-ND6 CL E G H4541540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17462516006
HP:0001507HP:0041079Decreased body fat percentage1MT-ND6 CL E G H4541540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17462516006
HP:0001507HP:0033795Growth without growth hormone1MT-ND6 CL E G H4541540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17462516006
HP:0001507HP:0100555Asymmetric growth1MT-ND6 CL E G H4541540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17462516006
HP:0001507HP:0033794Acral overgrowth1MT-ND6 CL E G H4541540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17462516006
HP:0001507HP:0004323Abnormality of body weight1MT-ND6 CL E G H4541540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17462516006
HP:0001507HP:0025521Increased body fat percentage1MT-ND6 CL E G H4541540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17462516006
HP:0001507HP:0000002Abnormality of body height1MT-ND6 CL E G H4541540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17462516006
HP:0001507HP:0001510Growth delay1MT-ND6 CL E G H4541540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17462516006
HP:0001507HP:0000002Abnormality of body height1MT-TC CL E G H4511540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17477590020
HP:0001507HP:0001510Growth delay1MT-TC CL E G H4511540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17477590020
HP:0001507HP:0025521Increased body fat percentage1MT-TC CL E G H4511540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17477590020
HP:0001507HP:0041079Decreased body fat percentage1MT-TC CL E G H4511540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17477590020
HP:0001507HP:0030853Heterotaxy1MT-TC CL E G H4511540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17477590020
HP:0001507HP:0033795Growth without growth hormone1MT-TC CL E G H4511540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17477590020
HP:0001507HP:0100555Asymmetric growth1MT-TC CL E G H4511540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17477590020
HP:0001507HP:0004323Abnormality of body weight1MT-TC CL E G H4511540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17477590020
HP:0001507HP:0033794Acral overgrowth1MT-TC CL E G H4511540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17477590020
HP:0001507HP:0033794Acral overgrowth1MT-TF CL E G H4558540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17481590070
HP:0001507HP:0004323Abnormality of body weight1MT-TF CL E G H4558540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17481590070
HP:0001507HP:0025521Increased body fat percentage1MT-TF CL E G H4558540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17481590070
HP:0001507HP:0000002Abnormality of body height1MT-TF CL E G H4558540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17481590070
HP:0001507HP:0001510Growth delay1MT-TF CL E G H4558540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17481590070
HP:0001507HP:0030853Heterotaxy1MT-TF CL E G H4558540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17481590070
HP:0001507HP:0041079Decreased body fat percentage1MT-TF CL E G H4558540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17481590070
HP:0001507HP:0033795Growth without growth hormone1MT-TF CL E G H4558540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17481590070
HP:0001507HP:0100555Asymmetric growth1MT-TF CL E G H4558540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17481590070
HP:0001507HP:0100555Asymmetric growth1MT-TK CL E G H4566540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17489590060
HP:0001507HP:0033795Growth without growth hormone1MT-TK CL E G H4566540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17489590060
HP:0001507HP:0004323Abnormality of body weight1MT-TK CL E G H4566540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17489590060
HP:0001507HP:0033794Acral overgrowth1MT-TK CL E G H4566540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17489590060
HP:0001507HP:0025521Increased body fat percentage1MT-TK CL E G H4566540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17489590060
HP:0001507HP:0000002Abnormality of body height1MT-TK CL E G H4566540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17489590060
HP:0001507HP:0001510Growth delay1MT-TK CL E G H4566540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17489590060
HP:0001507HP:0041079Decreased body fat percentage1MT-TK CL E G H4566540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17489590060
HP:0001507HP:0030853Heterotaxy1MT-TK CL E G H4566540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17489590060
HP:0001507HP:0030853Heterotaxy1MT-TL1 CL E G H4567540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17490590050
HP:0001507HP:0041079Decreased body fat percentage1MT-TL1 CL E G H4567540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17490590050
HP:0001507HP:0033795Growth without growth hormone1MT-TL1 CL E G H4567540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17490590050
HP:0001507HP:0100555Asymmetric growth1MT-TL1 CL E G H4567540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17490590050
HP:0001507HP:0004323Abnormality of body weight1MT-TL1 CL E G H4567540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17490590050
HP:0001507HP:0033794Acral overgrowth1MT-TL1 CL E G H4567540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17490590050
HP:0001507HP:0025521Increased body fat percentage1MT-TL1 CL E G H4567540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17490590050
HP:0001507HP:0000002Abnormality of body height1MT-TL1 CL E G H4567540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17490590050
HP:0001507HP:0001510Growth delay1MT-TL1 CL E G H4567540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17490590050
HP:0001507HP:0025521Increased body fat percentage1MT-TQ CL E G H4572540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17495590030
HP:0001507HP:0000002Abnormality of body height1MT-TQ CL E G H4572540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17495590030
HP:0001507HP:0001510Growth delay1MT-TQ CL E G H4572540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17495590030
HP:0001507HP:0041079Decreased body fat percentage1MT-TQ CL E G H4572540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17495590030
HP:0001507HP:0030853Heterotaxy1MT-TQ CL E G H4572540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17495590030
HP:0001507HP:0100555Asymmetric growth1MT-TQ CL E G H4572540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17495590030
HP:0001507HP:0033795Growth without growth hormone1MT-TQ CL E G H4572540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17495590030
HP:0001507HP:0033794Acral overgrowth1MT-TQ CL E G H4572540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17495590030
HP:0001507HP:0004323Abnormality of body weight1MT-TQ CL E G H4572540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17495590030
HP:0001507HP:0033795Growth without growth hormone1MT-TS1 CL E G H4574540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17497590080
HP:0001507HP:0100555Asymmetric growth1MT-TS1 CL E G H4574540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17497590080
HP:0001507HP:0004323Abnormality of body weight1MT-TS1 CL E G H4574540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17497590080
HP:0001507HP:0033794Acral overgrowth1MT-TS1 CL E G H4574540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17497590080
HP:0001507HP:0000002Abnormality of body height1MT-TS1 CL E G H4574540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17497590080
HP:0001507HP:0025521Increased body fat percentage1MT-TS1 CL E G H4574540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17497590080
HP:0001507HP:0001510Growth delay1MT-TS1 CL E G H4574540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17497590080
HP:0001507HP:0030853Heterotaxy1MT-TS1 CL E G H4574540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17497590080
HP:0001507HP:0041079Decreased body fat percentage1MT-TS1 CL E G H4574540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17497590080
HP:0001507HP:0041079Decreased body fat percentage1MT-TS2 CL E G H4575540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17498590085
HP:0001507HP:0030853Heterotaxy1MT-TS2 CL E G H4575540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17498590085
HP:0001507HP:0100555Asymmetric growth1MT-TS2 CL E G H4575540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17498590085
HP:0001507HP:0033795Growth without growth hormone1MT-TS2 CL E G H4575540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17498590085
HP:0001507HP:0033794Acral overgrowth1MT-TS2 CL E G H4575540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17498590085
HP:0001507HP:0004323Abnormality of body weight1MT-TS2 CL E G H4575540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17498590085
HP:0001507HP:0025521Increased body fat percentage1MT-TS2 CL E G H4575540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17498590085
HP:0001507HP:0000002Abnormality of body height1MT-TS2 CL E G H4575540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17498590085
HP:0001507HP:0001510Growth delay1MT-TS2 CL E G H4575540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17498590085
HP:0001507HP:0025521Increased body fat percentage1MT-TV CL E G H4577540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17500590105
HP:0001507HP:0000002Abnormality of body height1MT-TV CL E G H4577540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17500590105
HP:0001507HP:0001510Growth delay1MT-TV CL E G H4577540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17500590105
HP:0001507HP:0030853Heterotaxy1MT-TV CL E G H4577540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17500590105
HP:0001507HP:0041079Decreased body fat percentage1MT-TV CL E G H4577540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17500590105
HP:0001507HP:0033795Growth without growth hormone1MT-TV CL E G H4577540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17500590105
HP:0001507HP:0100555Asymmetric growth1MT-TV CL E G H4577540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17500590105
HP:0001507HP:0004323Abnormality of body weight1MT-TV CL E G H4577540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17500590105
HP:0001507HP:0033794Acral overgrowth1MT-TV CL E G H4577540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17500590105
HP:0001507HP:0033794Acral overgrowth1MT-TW CL E G H4578540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17501590095
HP:0001507HP:0004323Abnormality of body weight1MT-TW CL E G H4578540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17501590095
HP:0001507HP:0025521Increased body fat percentage1MT-TW CL E G H4578540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17501590095
HP:0001507HP:0000002Abnormality of body height1MT-TW CL E G H4578540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17501590095
HP:0001507HP:0001510Growth delay1MT-TW CL E G H4578540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17501590095
HP:0001507HP:0041079Decreased body fat percentage1MT-TW CL E G H4578540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17501590095
HP:0001507HP:0030853Heterotaxy1MT-TW CL E G H4578540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17501590095
HP:0001507HP:0100555Asymmetric growth1MT-TW CL E G H4578540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17501590095
HP:0001507HP:0033795Growth without growth hormone1MT-TW CL E G H4578540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17501590095
HP:0001507HP:0033795Growth without growth hormone1PDGFRB CL E G H5159601812Premature aging syndrome, Penttinen type601812C1866182OMIM13458804173410
HP:0001507HP:0100555Asymmetric growth1PDGFRB CL E G H5159601812Premature aging syndrome, Penttinen type601812C1866182OMIM13458804173410
HP:0001507HP:0004323Abnormality of body weight1PDGFRB CL E G H5159601812Premature aging syndrome, Penttinen type601812C1866182OMIM13458804173410
HP:0001507HP:0033794Acral overgrowth1PDGFRB CL E G H5159601812Premature aging syndrome, Penttinen type601812C1866182OMIM13458804173410
HP:0001507HP:0025521Increased body fat percentage1PDGFRB CL E G H5159601812Premature aging syndrome, Penttinen type601812C1866182OMIM13458804173410
HP:0001507HP:0000002Abnormality of body height1PDGFRB CL E G H5159601812Premature aging syndrome, Penttinen type601812C1866182OMIM13458804173410
HP:0001507HP:0001510Growth delay1PDGFRB CL E G H5159601812Premature aging syndrome, Penttinen type601812C1866182OMIM13458804173410
HP:0001507HP:0030853Heterotaxy1PDGFRB CL E G H5159601812Premature aging syndrome, Penttinen type601812C1866182OMIM13458804173410
HP:0001507HP:0041079Decreased body fat percentage1PDGFRB CL E G H5159601812Premature aging syndrome, Penttinen type601812C1866182OMIM13458804173410
HP:0001507HP:0025521Increased body fat percentage1PIGL CL E G H9487280000Zunich neuroectodermal syndrome280000C1848392OMIM11278966605947
HP:0001507HP:0000002Abnormality of body height1PIGL CL E G H9487280000Zunich neuroectodermal syndrome280000C1848392OMIM11278966605947
HP:0001507HP:0001510Growth delay1PIGL CL E G H9487280000Zunich neuroectodermal syndrome280000C1848392OMIM11278966605947
HP:0001507HP:0030853Heterotaxy1PIGL CL E G H9487280000Zunich neuroectodermal syndrome280000C1848392OMIM11278966605947
HP:0001507HP:0041079Decreased body fat percentage1PIGL CL E G H9487280000Zunich neuroectodermal syndrome280000C1848392OMIM11278966605947
HP:0001507HP:0033795Growth without growth hormone1PIGL CL E G H9487280000Zunich neuroectodermal syndrome280000C1848392OMIM11278966605947
HP:0001507HP:0100555Asymmetric growth1PIGL CL E G H9487280000Zunich neuroectodermal syndrome280000C1848392OMIM11278966605947
HP:0001507HP:0004323Abnormality of body weight1PIGL CL E G H9487280000Zunich neuroectodermal syndrome280000C1848392OMIM11278966605947
HP:0001507HP:0033794Acral overgrowth1PIGL CL E G H9487280000Zunich neuroectodermal syndrome280000C1848392OMIM11278966605947
HP:0001507HP:0033795Growth without growth hormone1PSMB8 CL E G H5696256040Nakajo syndrome256040C1850568OMIM11619545177046
HP:0001507HP:0100555Asymmetric growth1PSMB8 CL E G H5696256040Nakajo syndrome256040C1850568OMIM11619545177046
HP:0001507HP:0033794Acral overgrowth1PSMB8 CL E G H5696256040Nakajo syndrome256040C1850568OMIM11619545177046
HP:0001507HP:0004323Abnormality of body weight1PSMB8 CL E G H5696256040Nakajo syndrome256040C1850568OMIM11619545177046
HP:0001507HP:0025521Increased body fat percentage1PSMB8 CL E G H5696256040Nakajo syndrome256040C1850568OMIM11619545177046
HP:0001507HP:0000002Abnormality of body height1PSMB8 CL E G H5696256040Nakajo syndrome256040C1850568OMIM11619545177046
HP:0001507HP:0001510Growth delay1PSMB8 CL E G H5696256040Nakajo syndrome256040C1850568OMIM11619545177046
HP:0001507HP:0030853Heterotaxy1PSMB8 CL E G H5696256040Nakajo syndrome256040C1850568OMIM11619545177046
HP:0001507HP:0041079Decreased body fat percentage1PSMB8 CL E G H5696256040Nakajo syndrome256040C1850568OMIM11619545177046
HP:0001507HP:0033795Growth without growth hormone1SGSH CL E G H6448252900Mucopolysaccharidosis, MPS-III-A252900C0086647OMIM196310818605270
HP:0001507HP:0100555Asymmetric growth1SGSH CL E G H6448252900Mucopolysaccharidosis, MPS-III-A252900C0086647OMIM196310818605270
HP:0001507HP:0004323Abnormality of body weight1SGSH CL E G H6448252900Mucopolysaccharidosis, MPS-III-A252900C0086647OMIM196310818605270
HP:0001507HP:0033794Acral overgrowth1SGSH CL E G H6448252900Mucopolysaccharidosis, MPS-III-A252900C0086647OMIM196310818605270
HP:0001507HP:0000002Abnormality of body height1SGSH CL E G H6448252900Mucopolysaccharidosis, MPS-III-A252900C0086647OMIM196310818605270
HP:0001507HP:0001510Growth delay1SGSH CL E G H6448252900Mucopolysaccharidosis, MPS-III-A252900C0086647OMIM196310818605270
HP:0001507HP:0025521Increased body fat percentage1SGSH CL E G H6448252900Mucopolysaccharidosis, MPS-III-A252900C0086647OMIM196310818605270
HP:0001507HP:0030853Heterotaxy1SGSH CL E G H6448252900Mucopolysaccharidosis, MPS-III-A252900C0086647OMIM196310818605270
HP:0001507HP:0041079Decreased body fat percentage1SGSH CL E G H6448252900Mucopolysaccharidosis, MPS-III-A252900C0086647OMIM196310818605270
HP:0001507HP:0025521Increased body fat percentage1SLC26A3 CL E G H1811214700Congenital secretory diarrhea, chloride type214700C0267662OMIM13563018126650
HP:0001507HP:0000002Abnormality of body height1SLC26A3 CL E G H1811214700Congenital secretory diarrhea, chloride type214700C0267662OMIM13563018126650
HP:0001507HP:0001510Growth delay1SLC26A3 CL E G H1811214700Congenital secretory diarrhea, chloride type214700C0267662OMIM13563018126650
HP:0001507HP:0030853Heterotaxy1SLC26A3 CL E G H1811214700Congenital secretory diarrhea, chloride type214700C0267662OMIM13563018126650
HP:0001507HP:0041079Decreased body fat percentage1SLC26A3 CL E G H1811214700Congenital secretory diarrhea, chloride type214700C0267662OMIM13563018126650
HP:0001507HP:0033795Growth without growth hormone1SLC26A3 CL E G H1811214700Congenital secretory diarrhea, chloride type214700C0267662OMIM13563018126650
HP:0001507HP:0100555Asymmetric growth1SLC26A3 CL E G H1811214700Congenital secretory diarrhea, chloride type214700C0267662OMIM13563018126650
HP:0001507HP:0004323Abnormality of body weight1SLC26A3 CL E G H1811214700Congenital secretory diarrhea, chloride type214700C0267662OMIM13563018126650
HP:0001507HP:0033794Acral overgrowth1SLC26A3 CL E G H1811214700Congenital secretory diarrhea, chloride type214700C0267662OMIM13563018126650
HP:0001507HP:0030853Heterotaxy1UPF3B CL E G H65109300676Mental retardation, syndromic 14, X-linked300676C1970822OMIM131420439300298
HP:0001507HP:0041079Decreased body fat percentage1UPF3B CL E G H65109300676Mental retardation, syndromic 14, X-linked300676C1970822OMIM131420439300298
HP:0001507HP:0033795Growth without growth hormone1UPF3B CL E G H65109300676Mental retardation, syndromic 14, X-linked300676C1970822OMIM131420439300298
HP:0001507HP:0100555Asymmetric growth1UPF3B CL E G H65109300676Mental retardation, syndromic 14, X-linked300676C1970822OMIM131420439300298
HP:0001507HP:0004323Abnormality of body weight1UPF3B CL E G H65109300676Mental retardation, syndromic 14, X-linked300676C1970822OMIM131420439300298
HP:0001507HP:0033794Acral overgrowth1UPF3B CL E G H65109300676Mental retardation, syndromic 14, X-linked300676C1970822OMIM131420439300298
HP:0001507HP:0025521Increased body fat percentage1UPF3B CL E G H65109300676Mental retardation, syndromic 14, X-linked300676C1970822OMIM131420439300298
HP:0001507HP:0000002Abnormality of body height1UPF3B CL E G H65109300676Mental retardation, syndromic 14, X-linked300676C1970822OMIM131420439300298
HP:0001507HP:0001510Growth delay1UPF3B CL E G H65109300676Mental retardation, syndromic 14, X-linked300676C1970822OMIM131420439300298
HP:0001507HP:0008897Postnatal growth retardation2ACAN CL E G H176165800Osteochondritis dissecans165800C0029421OMIM1542319155760
HP:0001507HP:0033170Abnormal skinfold thickness measurement2ACAN CL E G H176165800Osteochondritis dissecans165800C0029421OMIM1542319155760
HP:0001507HP:0000823Delayed puberty2ACAN CL E G H176165800Osteochondritis dissecans165800C0029421OMIM1542319155760
HP:0001507HP:0001511Intrauterine growth retardation2ACAN CL E G H176165800Osteochondritis dissecans165800C0029421OMIM1542319155760
HP:0001507HP:0031818Abnormal waist to hip ratio2ACAN CL E G H176165800Osteochondritis dissecans165800C0029421OMIM1542319155760
HP:0001507HP:0100556Hemiatrophy2ACAN CL E G H176165800Osteochondritis dissecans165800C0029421OMIM1542319155760
HP:0001507HP:0012772Abnormal upper to lower segment ratio2ACAN CL E G H176165800Osteochondritis dissecans165800C0029421OMIM1542319155760
HP:0001507HP:0031087Absent pubertal growth spurt2ACAN CL E G H176165800Osteochondritis dissecans165800C0029421OMIM1542319155760
HP:0001507HP:0004322Short stature2ACAN CL E G H176165800Osteochondritis dissecans165800C0029421OMIM1542319155760
HP:0001507HP:0100559Lower limb asymmetry2ACAN CL E G H176165800Osteochondritis dissecans165800C0029421OMIM1542319155760
HP:0001507HP:0031853Isomerism2ACAN CL E G H176165800Osteochondritis dissecans165800C0029421OMIM1542319155760
HP:0001507HP:0045081Abnormality of body mass index2ACAN CL E G H176165800Osteochondritis dissecans165800C0029421OMIM1542319155760
HP:0001507HP:0001528Hemihypertrophy2ACAN CL E G H176165800Osteochondritis dissecans165800C0029421OMIM1542319155760
HP:0001507HP:0011620Abnormality of abdominal situs2ACAN CL E G H176165800Osteochondritis dissecans165800C0029421OMIM1542319155760
HP:0001507HP:0004324Increased body weight2ACAN CL E G H176165800Osteochondritis dissecans165800C0029421OMIM1542319155760
HP:0001507HP:0100560Upper limb asymmetry2ACAN CL E G H176165800Osteochondritis dissecans165800C0029421OMIM1542319155760
HP:0001507HP:0004325Decreased body weight2ACAN CL E G H176165800Osteochondritis dissecans165800C0029421OMIM1542319155760
HP:0001507HP:0000098Tall stature2ACAN CL E G H176165800Osteochondritis dissecans165800C0029421OMIM1542319155760
HP:0001507HP:0100556Hemiatrophy2AR CL E G H367300068Androgen resistance syndrome300068C0039585OMIM1556644313700
HP:0001507HP:0012772Abnormal upper to lower segment ratio2AR CL E G H367300068Androgen resistance syndrome300068C0039585OMIM1556644313700
HP:0001507HP:0031087Absent pubertal growth spurt2AR CL E G H367300068Androgen resistance syndrome300068C0039585OMIM1556644313700
HP:0001507HP:0031818Abnormal waist to hip ratio2AR CL E G H367300068Androgen resistance syndrome300068C0039585OMIM1556644313700
HP:0001507HP:0001528Hemihypertrophy2AR CL E G H367300068Androgen resistance syndrome300068C0039585OMIM1556644313700
HP:0001507HP:0004322Short stature2AR CL E G H367300068Androgen resistance syndrome300068C0039585OMIM1556644313700
HP:0001507HP:0100559Lower limb asymmetry2AR CL E G H367300068Androgen resistance syndrome300068C0039585OMIM1556644313700
HP:0001507HP:0031853Isomerism2AR CL E G H367300068Androgen resistance syndrome300068C0039585OMIM1556644313700
HP:0001507HP:0045081Abnormality of body mass index2AR CL E G H367300068Androgen resistance syndrome300068C0039585OMIM1556644313700
HP:0001507HP:0004325Decreased body weight2AR CL E G H367300068Androgen resistance syndrome300068C0039585OMIM1556644313700
HP:0001507HP:0000098Tall stature2AR CL E G H367300068Androgen resistance syndrome300068C0039585OMIM1556644313700
HP:0001507HP:0011620Abnormality of abdominal situs2AR CL E G H367300068Androgen resistance syndrome300068C0039585OMIM1556644313700
HP:0001507HP:0004324Increased body weight2AR CL E G H367300068Androgen resistance syndrome300068C0039585OMIM1556644313700
HP:0001507HP:0100560Upper limb asymmetry2AR CL E G H367300068Androgen resistance syndrome300068C0039585OMIM1556644313700
HP:0001507HP:0001511Intrauterine growth retardation2AR CL E G H367300068Androgen resistance syndrome300068C0039585OMIM1556644313700
HP:0001507HP:0008897Postnatal growth retardation2AR CL E G H367300068Androgen resistance syndrome300068C0039585OMIM1556644313700
HP:0001507HP:0033170Abnormal skinfold thickness measurement2AR CL E G H367300068Androgen resistance syndrome300068C0039585OMIM1556644313700
HP:0001507HP:0000823Delayed puberty2AR CL E G H367300068Androgen resistance syndrome300068C0039585OMIM1556644313700
HP:0001507HP:0100560Upper limb asymmetry2BCKDHA CL E G H593248600Maple syrup urine disease248600C0024776OMIM1495986608348
HP:0001507HP:0004325Decreased body weight2BCKDHA CL E G H593248600Maple syrup urine disease248600C0024776OMIM1495986608348
HP:0001507HP:0000098Tall stature2BCKDHA CL E G H593248600Maple syrup urine disease248600C0024776OMIM1495986608348
HP:0001507HP:0011620Abnormality of abdominal situs2BCKDHA CL E G H593248600Maple syrup urine disease248600C0024776OMIM1495986608348
HP:0001507HP:0004324Increased body weight2BCKDHA CL E G H593248600Maple syrup urine disease248600C0024776OMIM1495986608348
HP:0001507HP:0033170Abnormal skinfold thickness measurement2BCKDHA CL E G H593248600Maple syrup urine disease248600C0024776OMIM1495986608348
HP:0001507HP:0000823Delayed puberty2BCKDHA CL E G H593248600Maple syrup urine disease248600C0024776OMIM1495986608348
HP:0001507HP:0001511Intrauterine growth retardation2BCKDHA CL E G H593248600Maple syrup urine disease248600C0024776OMIM1495986608348
HP:0001507HP:0008897Postnatal growth retardation2BCKDHA CL E G H593248600Maple syrup urine disease248600C0024776OMIM1495986608348
HP:0001507HP:0100556Hemiatrophy2BCKDHA CL E G H593248600Maple syrup urine disease248600C0024776OMIM1495986608348
HP:0001507HP:0012772Abnormal upper to lower segment ratio2BCKDHA CL E G H593248600Maple syrup urine disease248600C0024776OMIM1495986608348
HP:0001507HP:0031818Abnormal waist to hip ratio2BCKDHA CL E G H593248600Maple syrup urine disease248600C0024776OMIM1495986608348
HP:0001507HP:0031087Absent pubertal growth spurt2BCKDHA CL E G H593248600Maple syrup urine disease248600C0024776OMIM1495986608348
HP:0001507HP:0045081Abnormality of body mass index2BCKDHA CL E G H593248600Maple syrup urine disease248600C0024776OMIM1495986608348
HP:0001507HP:0001528Hemihypertrophy2BCKDHA CL E G H593248600Maple syrup urine disease248600C0024776OMIM1495986608348
HP:0001507HP:0004322Short stature2BCKDHA CL E G H593248600Maple syrup urine disease248600C0024776OMIM1495986608348
HP:0001507HP:0100559Lower limb asymmetry2BCKDHA CL E G H593248600Maple syrup urine disease248600C0024776OMIM1495986608348
HP:0001507HP:0031853Isomerism2BCKDHA CL E G H593248600Maple syrup urine disease248600C0024776OMIM1495986608348
HP:0001507HP:0001528Hemihypertrophy2BCKDHB CL E G H594248600Maple syrup urine disease248600C0024776OMIM1547987248611
HP:0001507HP:0004322Short stature2BCKDHB CL E G H594248600Maple syrup urine disease248600C0024776OMIM1547987248611
HP:0001507HP:0100559Lower limb asymmetry2BCKDHB CL E G H594248600Maple syrup urine disease248600C0024776OMIM1547987248611
HP:0001507HP:0031853Isomerism2BCKDHB CL E G H594248600Maple syrup urine disease248600C0024776OMIM1547987248611
HP:0001507HP:0045081Abnormality of body mass index2BCKDHB CL E G H594248600Maple syrup urine disease248600C0024776OMIM1547987248611
HP:0001507HP:0011620Abnormality of abdominal situs2BCKDHB CL E G H594248600Maple syrup urine disease248600C0024776OMIM1547987248611
HP:0001507HP:0004324Increased body weight2BCKDHB CL E G H594248600Maple syrup urine disease248600C0024776OMIM1547987248611
HP:0001507HP:0100560Upper limb asymmetry2BCKDHB CL E G H594248600Maple syrup urine disease248600C0024776OMIM1547987248611
HP:0001507HP:0004325Decreased body weight2BCKDHB CL E G H594248600Maple syrup urine disease248600C0024776OMIM1547987248611
HP:0001507HP:0000098Tall stature2BCKDHB CL E G H594248600Maple syrup urine disease248600C0024776OMIM1547987248611
HP:0001507HP:0001511Intrauterine growth retardation2BCKDHB CL E G H594248600Maple syrup urine disease248600C0024776OMIM1547987248611
HP:0001507HP:0008897Postnatal growth retardation2BCKDHB CL E G H594248600Maple syrup urine disease248600C0024776OMIM1547987248611
HP:0001507HP:0033170Abnormal skinfold thickness measurement2BCKDHB CL E G H594248600Maple syrup urine disease248600C0024776OMIM1547987248611
HP:0001507HP:0000823Delayed puberty2BCKDHB CL E G H594248600Maple syrup urine disease248600C0024776OMIM1547987248611
HP:0001507HP:0012772Abnormal upper to lower segment ratio2BCKDHB CL E G H594248600Maple syrup urine disease248600C0024776OMIM1547987248611
HP:0001507HP:0031087Absent pubertal growth spurt2BCKDHB CL E G H594248600Maple syrup urine disease248600C0024776OMIM1547987248611
HP:0001507HP:0031818Abnormal waist to hip ratio2BCKDHB CL E G H594248600Maple syrup urine disease248600C0024776OMIM1547987248611
HP:0001507HP:0100556Hemiatrophy2BCKDHB CL E G H594248600Maple syrup urine disease248600C0024776OMIM1547987248611
HP:0001507HP:0031087Absent pubertal growth spurt2COL1A1 CL E G H1277166200Osteogenesis imperfecta type I166200C0023931OMIM120162197120150
HP:0001507HP:0000098Tall stature2COL1A1 CL E G H1277166200Osteogenesis imperfecta type I166200C0023931OMIM120162197120150
HP:0001507HP:0011620Abnormality of abdominal situs2COL1A1 CL E G H1277166200Osteogenesis imperfecta type I166200C0023931OMIM120162197120150
HP:0001507HP:0100560Upper limb asymmetry2COL1A1 CL E G H1277166200Osteogenesis imperfecta type I166200C0023931OMIM120162197120150
HP:0001507HP:0031853Isomerism2COL1A1 CL E G H1277166200Osteogenesis imperfecta type I166200C0023931OMIM120162197120150
HP:0001507HP:0045081Abnormality of body mass index2COL1A1 CL E G H1277166200Osteogenesis imperfecta type I166200C0023931OMIM120162197120150
HP:0001507HP:0033170Abnormal skinfold thickness measurement2COL1A1 CL E G H1277166200Osteogenesis imperfecta type I166200C0023931OMIM120162197120150
HP:0001507HP:0000823Delayed puberty2COL1A1 CL E G H1277166200Osteogenesis imperfecta type I166200C0023931OMIM120162197120150
HP:0001507HP:0004325Decreased body weight2COL1A1 CL E G H1277166200Osteogenesis imperfecta type I166200C0023931OMIM120162197120150
HP:0001507HP:0004324Increased body weight2COL1A1 CL E G H1277166200Osteogenesis imperfecta type I166200C0023931OMIM120162197120150
HP:0001507HP:0100556Hemiatrophy2COL1A1 CL E G H1277166200Osteogenesis imperfecta type I166200C0023931OMIM120162197120150
HP:0001507HP:0012772Abnormal upper to lower segment ratio2COL1A1 CL E G H1277166200Osteogenesis imperfecta type I166200C0023931OMIM120162197120150
HP:0001507HP:0031818Abnormal waist to hip ratio2COL1A1 CL E G H1277166200Osteogenesis imperfecta type I166200C0023931OMIM120162197120150
HP:0001507HP:0001511Intrauterine growth retardation2COL1A1 CL E G H1277166200Osteogenesis imperfecta type I166200C0023931OMIM120162197120150
HP:0001507HP:0008897Postnatal growth retardation2COL1A1 CL E G H1277166200Osteogenesis imperfecta type I166200C0023931OMIM120162197120150
HP:0001507HP:0001528Hemihypertrophy2COL1A1 CL E G H1277166200Osteogenesis imperfecta type I166200C0023931OMIM120162197120150
HP:0001507HP:0004322Short stature2COL1A1 CL E G H1277166200Osteogenesis imperfecta type I166200C0023931OMIM120162197120150
HP:0001507HP:0100559Lower limb asymmetry2COL1A1 CL E G H1277166200Osteogenesis imperfecta type I166200C0023931OMIM120162197120150
HP:0001507HP:0031853Isomerism2COL2A1 CL E G H1280609162Czech dysplasia metatarsal type609162C1836683OMIM118202200120140
HP:0001507HP:0045081Abnormality of body mass index2COL2A1 CL E G H1280609162Czech dysplasia metatarsal type609162C1836683OMIM118202200120140
HP:0001507HP:0100560Upper limb asymmetry2COL2A1 CL E G H1280609162Czech dysplasia metatarsal type609162C1836683OMIM118202200120140
HP:0001507HP:0011620Abnormality of abdominal situs2COL2A1 CL E G H1280609162Czech dysplasia metatarsal type609162C1836683OMIM118202200120140
HP:0001507HP:0004325Decreased body weight2COL2A1 CL E G H1280609162Czech dysplasia metatarsal type609162C1836683OMIM118202200120140
HP:0001507HP:0000098Tall stature2COL2A1 CL E G H1280609162Czech dysplasia metatarsal type609162C1836683OMIM118202200120140
HP:0001507HP:0004324Increased body weight2COL2A1 CL E G H1280609162Czech dysplasia metatarsal type609162C1836683OMIM118202200120140
HP:0001507HP:0000823Delayed puberty2COL2A1 CL E G H1280609162Czech dysplasia metatarsal type609162C1836683OMIM118202200120140
HP:0001507HP:0001511Intrauterine growth retardation2COL2A1 CL E G H1280609162Czech dysplasia metatarsal type609162C1836683OMIM118202200120140
HP:0001507HP:0008897Postnatal growth retardation2COL2A1 CL E G H1280609162Czech dysplasia metatarsal type609162C1836683OMIM118202200120140
HP:0001507HP:0033170Abnormal skinfold thickness measurement2COL2A1 CL E G H1280609162Czech dysplasia metatarsal type609162C1836683OMIM118202200120140
HP:0001507HP:0100556Hemiatrophy2COL2A1 CL E G H1280609162Czech dysplasia metatarsal type609162C1836683OMIM118202200120140
HP:0001507HP:0012772Abnormal upper to lower segment ratio2COL2A1 CL E G H1280609162Czech dysplasia metatarsal type609162C1836683OMIM118202200120140
HP:0001507HP:0031087Absent pubertal growth spurt2COL2A1 CL E G H1280609162Czech dysplasia metatarsal type609162C1836683OMIM118202200120140
HP:0001507HP:0031818Abnormal waist to hip ratio2COL2A1 CL E G H1280609162Czech dysplasia metatarsal type609162C1836683OMIM118202200120140
HP:0001507HP:0001528Hemihypertrophy2COL2A1 CL E G H1280609162Czech dysplasia metatarsal type609162C1836683OMIM118202200120140
HP:0001507HP:0004322Short stature2COL2A1 CL E G H1280609162Czech dysplasia metatarsal type609162C1836683OMIM118202200120140
HP:0001507HP:0100559Lower limb asymmetry2COL2A1 CL E G H1280609162Czech dysplasia metatarsal type609162C1836683OMIM118202200120140
HP:0001507HP:0100556Hemiatrophy2CTNS CL E G H1497219900Juvenile nephropathic cystinosis219900C0268626OMIM16512518606272
HP:0001507HP:0012772Abnormal upper to lower segment ratio2CTNS CL E G H1497219900Juvenile nephropathic cystinosis219900C0268626OMIM16512518606272
HP:0001507HP:0031087Absent pubertal growth spurt2CTNS CL E G H1497219900Juvenile nephropathic cystinosis219900C0268626OMIM16512518606272
HP:0001507HP:0031818Abnormal waist to hip ratio2CTNS CL E G H1497219900Juvenile nephropathic cystinosis219900C0268626OMIM16512518606272
HP:0001507HP:0031853Isomerism2CTNS CL E G H1497219900Juvenile nephropathic cystinosis219900C0268626OMIM16512518606272
HP:0001507HP:0045081Abnormality of body mass index2CTNS CL E G H1497219900Juvenile nephropathic cystinosis219900C0268626OMIM16512518606272
HP:0001507HP:0001528Hemihypertrophy2CTNS CL E G H1497219900Juvenile nephropathic cystinosis219900C0268626OMIM16512518606272
HP:0001507HP:0004322Short stature2CTNS CL E G H1497219900Juvenile nephropathic cystinosis219900C0268626OMIM16512518606272
HP:0001507HP:0100559Lower limb asymmetry2CTNS CL E G H1497219900Juvenile nephropathic cystinosis219900C0268626OMIM16512518606272
HP:0001507HP:0100560Upper limb asymmetry2CTNS CL E G H1497219900Juvenile nephropathic cystinosis219900C0268626OMIM16512518606272
HP:0001507HP:0004325Decreased body weight2CTNS CL E G H1497219900Juvenile nephropathic cystinosis219900C0268626OMIM16512518606272
HP:0001507HP:0000098Tall stature2CTNS CL E G H1497219900Juvenile nephropathic cystinosis219900C0268626OMIM16512518606272
HP:0001507HP:0011620Abnormality of abdominal situs2CTNS CL E G H1497219900Juvenile nephropathic cystinosis219900C0268626OMIM16512518606272
HP:0001507HP:0004324Increased body weight2CTNS CL E G H1497219900Juvenile nephropathic cystinosis219900C0268626OMIM16512518606272
HP:0001507HP:0001511Intrauterine growth retardation2CTNS CL E G H1497219900Juvenile nephropathic cystinosis219900C0268626OMIM16512518606272
HP:0001507HP:0008897Postnatal growth retardation2CTNS CL E G H1497219900Juvenile nephropathic cystinosis219900C0268626OMIM16512518606272
HP:0001507HP:0033170Abnormal skinfold thickness measurement2CTNS CL E G H1497219900Juvenile nephropathic cystinosis219900C0268626OMIM16512518606272
HP:0001507HP:0000823Delayed puberty2CTNS CL E G H1497219900Juvenile nephropathic cystinosis219900C0268626OMIM16512518606272
HP:0001507HP:0011620Abnormality of abdominal situs2CYP21A2 CL E G H158920191021-hydroxylase deficiency201910C0852654OMIM12732600613815
HP:0001507HP:0004324Increased body weight2CYP21A2 CL E G H158920191021-hydroxylase deficiency201910C0852654OMIM12732600613815
HP:0001507HP:0100560Upper limb asymmetry2CYP21A2 CL E G H158920191021-hydroxylase deficiency201910C0852654OMIM12732600613815
HP:0001507HP:0004325Decreased body weight2CYP21A2 CL E G H158920191021-hydroxylase deficiency201910C0852654OMIM12732600613815
HP:0001507HP:0000098Tall stature2CYP21A2 CL E G H158920191021-hydroxylase deficiency201910C0852654OMIM12732600613815
HP:0001507HP:0008897Postnatal growth retardation2CYP21A2 CL E G H158920191021-hydroxylase deficiency201910C0852654OMIM12732600613815
HP:0001507HP:0033170Abnormal skinfold thickness measurement2CYP21A2 CL E G H158920191021-hydroxylase deficiency201910C0852654OMIM12732600613815
HP:0001507HP:0000823Delayed puberty2CYP21A2 CL E G H158920191021-hydroxylase deficiency201910C0852654OMIM12732600613815
HP:0001507HP:0001511Intrauterine growth retardation2CYP21A2 CL E G H158920191021-hydroxylase deficiency201910C0852654OMIM12732600613815
HP:0001507HP:0031818Abnormal waist to hip ratio2CYP21A2 CL E G H158920191021-hydroxylase deficiency201910C0852654OMIM12732600613815
HP:0001507HP:0100556Hemiatrophy2CYP21A2 CL E G H158920191021-hydroxylase deficiency201910C0852654OMIM12732600613815
HP:0001507HP:0012772Abnormal upper to lower segment ratio2CYP21A2 CL E G H158920191021-hydroxylase deficiency201910C0852654OMIM12732600613815
HP:0001507HP:0031087Absent pubertal growth spurt2CYP21A2 CL E G H158920191021-hydroxylase deficiency201910C0852654OMIM12732600613815
HP:0001507HP:0100559Lower limb asymmetry2CYP21A2 CL E G H158920191021-hydroxylase deficiency201910C0852654OMIM12732600613815
HP:0001507HP:0031853Isomerism2CYP21A2 CL E G H158920191021-hydroxylase deficiency201910C0852654OMIM12732600613815
HP:0001507HP:0045081Abnormality of body mass index2CYP21A2 CL E G H158920191021-hydroxylase deficiency201910C0852654OMIM12732600613815
HP:0001507HP:0001528Hemihypertrophy2CYP21A2 CL E G H158920191021-hydroxylase deficiency201910C0852654OMIM12732600613815
HP:0001507HP:0004322Short stature2CYP21A2 CL E G H158920191021-hydroxylase deficiency201910C0852654OMIM12732600613815
HP:0001507HP:0031818Abnormal waist to hip ratio2DBT CL E G H1629248600Maple syrup urine disease248600C0024776OMIM15822698248610
HP:0001507HP:0100556Hemiatrophy2DBT CL E G H1629248600Maple syrup urine disease248600C0024776OMIM15822698248610
HP:0001507HP:0012772Abnormal upper to lower segment ratio2DBT CL E G H1629248600Maple syrup urine disease248600C0024776OMIM15822698248610
HP:0001507HP:0031087Absent pubertal growth spurt2DBT CL E G H1629248600Maple syrup urine disease248600C0024776OMIM15822698248610
HP:0001507HP:0100559Lower limb asymmetry2DBT CL E G H1629248600Maple syrup urine disease248600C0024776OMIM15822698248610
HP:0001507HP:0031853Isomerism2DBT CL E G H1629248600Maple syrup urine disease248600C0024776OMIM15822698248610
HP:0001507HP:0045081Abnormality of body mass index2DBT CL E G H1629248600Maple syrup urine disease248600C0024776OMIM15822698248610
HP:0001507HP:0001528Hemihypertrophy2DBT CL E G H1629248600Maple syrup urine disease248600C0024776OMIM15822698248610
HP:0001507HP:0004322Short stature2DBT CL E G H1629248600Maple syrup urine disease248600C0024776OMIM15822698248610
HP:0001507HP:0100560Upper limb asymmetry2DBT CL E G H1629248600Maple syrup urine disease248600C0024776OMIM15822698248610
HP:0001507HP:0004325Decreased body weight2DBT CL E G H1629248600Maple syrup urine disease248600C0024776OMIM15822698248610
HP:0001507HP:0000098Tall stature2DBT CL E G H1629248600Maple syrup urine disease248600C0024776OMIM15822698248610
HP:0001507HP:0011620Abnormality of abdominal situs2DBT CL E G H1629248600Maple syrup urine disease248600C0024776OMIM15822698248610
HP:0001507HP:0004324Increased body weight2DBT CL E G H1629248600Maple syrup urine disease248600C0024776OMIM15822698248610
HP:0001507HP:0001511Intrauterine growth retardation2DBT CL E G H1629248600Maple syrup urine disease248600C0024776OMIM15822698248610
HP:0001507HP:0008897Postnatal growth retardation2DBT CL E G H1629248600Maple syrup urine disease248600C0024776OMIM15822698248610
HP:0001507HP:0033170Abnormal skinfold thickness measurement2DBT CL E G H1629248600Maple syrup urine disease248600C0024776OMIM15822698248610
HP:0001507HP:0000823Delayed puberty2DBT CL E G H1629248600Maple syrup urine disease248600C0024776OMIM15822698248610
HP:0001507HP:0004325Decreased body weight2DIS3L2 CL E G H129563267000Renal hamartomas nephroblastomatosis and fetal gigantism267000C0796113OMIM1171428648614184
HP:0001507HP:0000098Tall stature2DIS3L2 CL E G H129563267000Renal hamartomas nephroblastomatosis and fetal gigantism267000C0796113OMIM1171428648614184
HP:0001507HP:0011620Abnormality of abdominal situs2DIS3L2 CL E G H129563267000Renal hamartomas nephroblastomatosis and fetal gigantism267000C0796113OMIM1171428648614184
HP:0001507HP:0004324Increased body weight2DIS3L2 CL E G H129563267000Renal hamartomas nephroblastomatosis and fetal gigantism267000C0796113OMIM1171428648614184
HP:0001507HP:0100560Upper limb asymmetry2DIS3L2 CL E G H129563267000Renal hamartomas nephroblastomatosis and fetal gigantism267000C0796113OMIM1171428648614184
HP:0001507HP:0001511Intrauterine growth retardation2DIS3L2 CL E G H129563267000Renal hamartomas nephroblastomatosis and fetal gigantism267000C0796113OMIM1171428648614184
HP:0001507HP:0008897Postnatal growth retardation2DIS3L2 CL E G H129563267000Renal hamartomas nephroblastomatosis and fetal gigantism267000C0796113OMIM1171428648614184
HP:0001507HP:0033170Abnormal skinfold thickness measurement2DIS3L2 CL E G H129563267000Renal hamartomas nephroblastomatosis and fetal gigantism267000C0796113OMIM1171428648614184
HP:0001507HP:0000823Delayed puberty2DIS3L2 CL E G H129563267000Renal hamartomas nephroblastomatosis and fetal gigantism267000C0796113OMIM1171428648614184
HP:0001507HP:0012772Abnormal upper to lower segment ratio2DIS3L2 CL E G H129563267000Renal hamartomas nephroblastomatosis and fetal gigantism267000C0796113OMIM1171428648614184
HP:0001507HP:0031087Absent pubertal growth spurt2DIS3L2 CL E G H129563267000Renal hamartomas nephroblastomatosis and fetal gigantism267000C0796113OMIM1171428648614184
HP:0001507HP:0031818Abnormal waist to hip ratio2DIS3L2 CL E G H129563267000Renal hamartomas nephroblastomatosis and fetal gigantism267000C0796113OMIM1171428648614184
HP:0001507HP:0100556Hemiatrophy2DIS3L2 CL E G H129563267000Renal hamartomas nephroblastomatosis and fetal gigantism267000C0796113OMIM1171428648614184
HP:0001507HP:0001528Hemihypertrophy2DIS3L2 CL E G H129563267000Renal hamartomas nephroblastomatosis and fetal gigantism267000C0796113OMIM1171428648614184
HP:0001507HP:0004322Short stature2DIS3L2 CL E G H129563267000Renal hamartomas nephroblastomatosis and fetal gigantism267000C0796113OMIM1171428648614184
HP:0001507HP:0100559Lower limb asymmetry2DIS3L2 CL E G H129563267000Renal hamartomas nephroblastomatosis and fetal gigantism267000C0796113OMIM1171428648614184
HP:0001507HP:0031853Isomerism2DIS3L2 CL E G H129563267000Renal hamartomas nephroblastomatosis and fetal gigantism267000C0796113OMIM1171428648614184
HP:0001507HP:0045081Abnormality of body mass index2DIS3L2 CL E G H129563267000Renal hamartomas nephroblastomatosis and fetal gigantism267000C0796113OMIM1171428648614184
HP:0001507HP:0001528Hemihypertrophy2ELANE CL E G H1991202700Severe congenital neutropenia autosomal dominant202700C1859966OMIM14323309130130
HP:0001507HP:0004322Short stature2ELANE CL E G H1991202700Severe congenital neutropenia autosomal dominant202700C1859966OMIM14323309130130
HP:0001507HP:0100559Lower limb asymmetry2ELANE CL E G H1991202700Severe congenital neutropenia autosomal dominant202700C1859966OMIM14323309130130
HP:0001507HP:0031853Isomerism2ELANE CL E G H1991202700Severe congenital neutropenia autosomal dominant202700C1859966OMIM14323309130130
HP:0001507HP:0045081Abnormality of body mass index2ELANE CL E G H1991202700Severe congenital neutropenia autosomal dominant202700C1859966OMIM14323309130130
HP:0001507HP:0004325Decreased body weight2ELANE CL E G H1991202700Severe congenital neutropenia autosomal dominant202700C1859966OMIM14323309130130
HP:0001507HP:0000098Tall stature2ELANE CL E G H1991202700Severe congenital neutropenia autosomal dominant202700C1859966OMIM14323309130130
HP:0001507HP:0011620Abnormality of abdominal situs2ELANE CL E G H1991202700Severe congenital neutropenia autosomal dominant202700C1859966OMIM14323309130130
HP:0001507HP:0004324Increased body weight2ELANE CL E G H1991202700Severe congenital neutropenia autosomal dominant202700C1859966OMIM14323309130130
HP:0001507HP:0100560Upper limb asymmetry2ELANE CL E G H1991202700Severe congenital neutropenia autosomal dominant202700C1859966OMIM14323309130130
HP:0001507HP:0001511Intrauterine growth retardation2ELANE CL E G H1991202700Severe congenital neutropenia autosomal dominant202700C1859966OMIM14323309130130
HP:0001507HP:0008897Postnatal growth retardation2ELANE CL E G H1991202700Severe congenital neutropenia autosomal dominant202700C1859966OMIM14323309130130
HP:0001507HP:0033170Abnormal skinfold thickness measurement2ELANE CL E G H1991202700Severe congenital neutropenia autosomal dominant202700C1859966OMIM14323309130130
HP:0001507HP:0000823Delayed puberty2ELANE CL E G H1991202700Severe congenital neutropenia autosomal dominant202700C1859966OMIM14323309130130
HP:0001507HP:0012772Abnormal upper to lower segment ratio2ELANE CL E G H1991202700Severe congenital neutropenia autosomal dominant202700C1859966OMIM14323309130130
HP:0001507HP:0031087Absent pubertal growth spurt2ELANE CL E G H1991202700Severe congenital neutropenia autosomal dominant202700C1859966OMIM14323309130130
HP:0001507HP:0031818Abnormal waist to hip ratio2ELANE CL E G H1991202700Severe congenital neutropenia autosomal dominant202700C1859966OMIM14323309130130
HP:0001507HP:0100556Hemiatrophy2ELANE CL E G H1991202700Severe congenital neutropenia autosomal dominant202700C1859966OMIM14323309130130
HP:0001507HP:0004325Decreased body weight2ENPP1 CL E G H5167208000Arterial calcification of infancy208000C1859727OMIM14383356173335
HP:0001507HP:0000098Tall stature2ENPP1 CL E G H5167208000Arterial calcification of infancy208000C1859727OMIM14383356173335
HP:0001507HP:0004324Increased body weight2ENPP1 CL E G H5167208000Arterial calcification of infancy208000C1859727OMIM14383356173335
HP:0001507HP:0001511Intrauterine growth retardation2ENPP1 CL E G H5167208000Arterial calcification of infancy208000C1859727OMIM14383356173335
HP:0001507HP:0008897Postnatal growth retardation2ENPP1 CL E G H5167208000Arterial calcification of infancy208000C1859727OMIM14383356173335
HP:0001507HP:0033170Abnormal skinfold thickness measurement2ENPP1 CL E G H5167208000Arterial calcification of infancy208000C1859727OMIM14383356173335
HP:0001507HP:0000823Delayed puberty2ENPP1 CL E G H5167208000Arterial calcification of infancy208000C1859727OMIM14383356173335
HP:0001507HP:0100556Hemiatrophy2ENPP1 CL E G H5167208000Arterial calcification of infancy208000C1859727OMIM14383356173335
HP:0001507HP:0012772Abnormal upper to lower segment ratio2ENPP1 CL E G H5167208000Arterial calcification of infancy208000C1859727OMIM14383356173335
HP:0001507HP:0031087Absent pubertal growth spurt2ENPP1 CL E G H5167208000Arterial calcification of infancy208000C1859727OMIM14383356173335
HP:0001507HP:0031818Abnormal waist to hip ratio2ENPP1 CL E G H5167208000Arterial calcification of infancy208000C1859727OMIM14383356173335
HP:0001507HP:0001528Hemihypertrophy2ENPP1 CL E G H5167208000Arterial calcification of infancy208000C1859727OMIM14383356173335
HP:0001507HP:0100559Lower limb asymmetry2ENPP1 CL E G H5167208000Arterial calcification of infancy208000C1859727OMIM14383356173335
HP:0001507HP:0045081Abnormality of body mass index2ENPP1 CL E G H5167208000Arterial calcification of infancy208000C1859727OMIM14383356173335
HP:0001507HP:0004322Short stature2ENPP1 CL E G H5167208000Arterial calcification of infancy208000C1859727OMIM14383356173335
HP:0001507HP:0031853Isomerism2ENPP1 CL E G H5167208000Arterial calcification of infancy208000C1859727OMIM14383356173335
HP:0001507HP:0011620Abnormality of abdominal situs2ENPP1 CL E G H5167208000Arterial calcification of infancy208000C1859727OMIM14383356173335
HP:0001507HP:0100560Upper limb asymmetry2ENPP1 CL E G H5167208000Arterial calcification of infancy208000C1859727OMIM14383356173335
HP:0001507HP:0004325Decreased body weight2FGFR2 CL E G H2263101200Acrocephalosyndactyly type I101200C0001193OMIM15673689176943
HP:0001507HP:0000098Tall stature2FGFR2 CL E G H2263101200Acrocephalosyndactyly type I101200C0001193OMIM15673689176943
HP:0001507HP:0011620Abnormality of abdominal situs2FGFR2 CL E G H2263101200Acrocephalosyndactyly type I101200C0001193OMIM15673689176943
HP:0001507HP:0004324Increased body weight2FGFR2 CL E G H2263101200Acrocephalosyndactyly type I101200C0001193OMIM15673689176943
HP:0001507HP:0100560Upper limb asymmetry2FGFR2 CL E G H2263101200Acrocephalosyndactyly type I101200C0001193OMIM15673689176943
HP:0001507HP:0001511Intrauterine growth retardation2FGFR2 CL E G H2263101200Acrocephalosyndactyly type I101200C0001193OMIM15673689176943
HP:0001507HP:0008897Postnatal growth retardation2FGFR2 CL E G H2263101200Acrocephalosyndactyly type I101200C0001193OMIM15673689176943
HP:0001507HP:0033170Abnormal skinfold thickness measurement2FGFR2 CL E G H2263101200Acrocephalosyndactyly type I101200C0001193OMIM15673689176943
HP:0001507HP:0000823Delayed puberty2FGFR2 CL E G H2263101200Acrocephalosyndactyly type I101200C0001193OMIM15673689176943
HP:0001507HP:0012772Abnormal upper to lower segment ratio2FGFR2 CL E G H2263101200Acrocephalosyndactyly type I101200C0001193OMIM15673689176943
HP:0001507HP:0031087Absent pubertal growth spurt2FGFR2 CL E G H2263101200Acrocephalosyndactyly type I101200C0001193OMIM15673689176943
HP:0001507HP:0031818Abnormal waist to hip ratio2FGFR2 CL E G H2263101200Acrocephalosyndactyly type I101200C0001193OMIM15673689176943
HP:0001507HP:0100556Hemiatrophy2FGFR2 CL E G H2263101200Acrocephalosyndactyly type I101200C0001193OMIM15673689176943
HP:0001507HP:0001528Hemihypertrophy2FGFR2 CL E G H2263101200Acrocephalosyndactyly type I101200C0001193OMIM15673689176943
HP:0001507HP:0004322Short stature2FGFR2 CL E G H2263101200Acrocephalosyndactyly type I101200C0001193OMIM15673689176943
HP:0001507HP:0100559Lower limb asymmetry2FGFR2 CL E G H2263101200Acrocephalosyndactyly type I101200C0001193OMIM15673689176943
HP:0001507HP:0031853Isomerism2FGFR2 CL E G H2263101200Acrocephalosyndactyly type I101200C0001193OMIM15673689176943
HP:0001507HP:0045081Abnormality of body mass index2FGFR2 CL E G H2263101200Acrocephalosyndactyly type I101200C0001193OMIM15673689176943
HP:0001507HP:0031087Absent pubertal growth spurt2GNS CL E G H2799252940Mucopolysaccharidosis, MPS-III-D252940C0086650OMIM14284422607664
HP:0001507HP:0031818Abnormal waist to hip ratio2GNS CL E G H2799252940Mucopolysaccharidosis, MPS-III-D252940C0086650OMIM14284422607664
HP:0001507HP:0001528Hemihypertrophy2GNS CL E G H2799252940Mucopolysaccharidosis, MPS-III-D252940C0086650OMIM14284422607664
HP:0001507HP:0004322Short stature2GNS CL E G H2799252940Mucopolysaccharidosis, MPS-III-D252940C0086650OMIM14284422607664
HP:0001507HP:0100559Lower limb asymmetry2GNS CL E G H2799252940Mucopolysaccharidosis, MPS-III-D252940C0086650OMIM14284422607664
HP:0001507HP:0031853Isomerism2GNS CL E G H2799252940Mucopolysaccharidosis, MPS-III-D252940C0086650OMIM14284422607664
HP:0001507HP:0045081Abnormality of body mass index2GNS CL E G H2799252940Mucopolysaccharidosis, MPS-III-D252940C0086650OMIM14284422607664
HP:0001507HP:0011620Abnormality of abdominal situs2GNS CL E G H2799252940Mucopolysaccharidosis, MPS-III-D252940C0086650OMIM14284422607664
HP:0001507HP:0100560Upper limb asymmetry2GNS CL E G H2799252940Mucopolysaccharidosis, MPS-III-D252940C0086650OMIM14284422607664
HP:0001507HP:0000098Tall stature2GNS CL E G H2799252940Mucopolysaccharidosis, MPS-III-D252940C0086650OMIM14284422607664
HP:0001507HP:0004324Increased body weight2GNS CL E G H2799252940Mucopolysaccharidosis, MPS-III-D252940C0086650OMIM14284422607664
HP:0001507HP:0004325Decreased body weight2GNS CL E G H2799252940Mucopolysaccharidosis, MPS-III-D252940C0086650OMIM14284422607664
HP:0001507HP:0000823Delayed puberty2GNS CL E G H2799252940Mucopolysaccharidosis, MPS-III-D252940C0086650OMIM14284422607664
HP:0001507HP:0001511Intrauterine growth retardation2GNS CL E G H2799252940Mucopolysaccharidosis, MPS-III-D252940C0086650OMIM14284422607664
HP:0001507HP:0008897Postnatal growth retardation2GNS CL E G H2799252940Mucopolysaccharidosis, MPS-III-D252940C0086650OMIM14284422607664
HP:0001507HP:0033170Abnormal skinfold thickness measurement2GNS CL E G H2799252940Mucopolysaccharidosis, MPS-III-D252940C0086650OMIM14284422607664
HP:0001507HP:0012772Abnormal upper to lower segment ratio2GNS CL E G H2799252940Mucopolysaccharidosis, MPS-III-D252940C0086650OMIM14284422607664
HP:0001507HP:0100556Hemiatrophy2GNS CL E G H2799252940Mucopolysaccharidosis, MPS-III-D252940C0086650OMIM14284422607664
HP:0001507HP:0031818Abnormal waist to hip ratio2HGD CL E G H3081203500Alkaptonuria203500C0002066OMIM12724892607474
HP:0001507HP:0100556Hemiatrophy2HGD CL E G H3081203500Alkaptonuria203500C0002066OMIM12724892607474
HP:0001507HP:0012772Abnormal upper to lower segment ratio2HGD CL E G H3081203500Alkaptonuria203500C0002066OMIM12724892607474
HP:0001507HP:0031087Absent pubertal growth spurt2HGD CL E G H3081203500Alkaptonuria203500C0002066OMIM12724892607474
HP:0001507HP:0100559Lower limb asymmetry2HGD CL E G H3081203500Alkaptonuria203500C0002066OMIM12724892607474
HP:0001507HP:0031853Isomerism2HGD CL E G H3081203500Alkaptonuria203500C0002066OMIM12724892607474
HP:0001507HP:0045081Abnormality of body mass index2HGD CL E G H3081203500Alkaptonuria203500C0002066OMIM12724892607474
HP:0001507HP:0001528Hemihypertrophy2HGD CL E G H3081203500Alkaptonuria203500C0002066OMIM12724892607474
HP:0001507HP:0004322Short stature2HGD CL E G H3081203500Alkaptonuria203500C0002066OMIM12724892607474
HP:0001507HP:0011620Abnormality of abdominal situs2HGD CL E G H3081203500Alkaptonuria203500C0002066OMIM12724892607474
HP:0001507HP:0004324Increased body weight2HGD CL E G H3081203500Alkaptonuria203500C0002066OMIM12724892607474
HP:0001507HP:0100560Upper limb asymmetry2HGD CL E G H3081203500Alkaptonuria203500C0002066OMIM12724892607474
HP:0001507HP:0004325Decreased body weight2HGD CL E G H3081203500Alkaptonuria203500C0002066OMIM12724892607474
HP:0001507HP:0000098Tall stature2HGD CL E G H3081203500Alkaptonuria203500C0002066OMIM12724892607474
HP:0001507HP:0008897Postnatal growth retardation2HGD CL E G H3081203500Alkaptonuria203500C0002066OMIM12724892607474
HP:0001507HP:0033170Abnormal skinfold thickness measurement2HGD CL E G H3081203500Alkaptonuria203500C0002066OMIM12724892607474
HP:0001507HP:0000823Delayed puberty2HGD CL E G H3081203500Alkaptonuria203500C0002066OMIM12724892607474
HP:0001507HP:0001511Intrauterine growth retardation2HGD CL E G H3081203500Alkaptonuria203500C0002066OMIM12724892607474
HP:0001507HP:0100560Upper limb asymmetry2HGSNAT CL E G H138050252930M