Human Phenotype Ontology 
Grandparent Node:
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Growth abnormality (HP:0001507)help
Parent Node:
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Abnormality of body height (HP:0000002)help
..Starting node
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Tall stature (HP:0000098)help
Term ID: 98
Name: Tall stature
Synonym: Accelerated linear growth; Increased body height; Increased linear growth; Tall stature
Definition: A height above that which is expected according to age and gender norms.
Comments:
Reference: HP:0000098
Genes and Diseases:
 
       Child Nodes:
........expandDisproportionate tall stature (HP:0001519) help
........expandSlender build (HP:0001533) help
........expandOvergrowth (HP:0001548) help
........expandBirth length greater than 97th percentile (HP:0003517) help
........expandProportionate tall stature (HP:0011407) help

 Sister Nodes: 
..expandAbnormal upper to lower segment ratio (HP:0012772) help
..expandShort stature (HP:0004322) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000098HP:0000098Tall stature0ABAT CL E G H1823OMIM:613163GABA-transaminase deficiency.120
HP:0000098HP:0000098Tall stature0ACTA1 CL E G H58129ORPHA:171439Childhood-onset nemaline myopathy96
HP:0000098HP:0000098Tall stature0ACTA1 CL E G H58129OMIM:161800Nemaline myopathy 396
HP:0000098HP:0000098Tall stature0ACTA2 CL E G H59130ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional94
HP:0000098HP:0000098Tall stature0AGGF1 CL E G H5510924684ORPHA:90308Klippel-Trénaunay syndromeHP:0040282 - Frequent1
HP:0000098HP:0000098Tall stature0AGPAT2 CL E G H10555325ORPHA:528Congenital generalized lipodystrophy85
HP:0000098HP:0000098Tall stature0AGPAT2 CL E G H10555325OMIM:608594Lipodystrophy, congenital generalized, type 1.85
HP:0000098HP:0000098Tall stature0AIP CL E G H9049358ORPHA:963AcromegalyHP:0040281 - Very frequent95
HP:0000098HP:0000098Tall stature0AIP CL E G H9049358ORPHA:99725Pituitary gigantismHP:0040281 - Very frequent95
HP:0000098HP:0000098Tall stature0AKT1 CL E G H207391ORPHA:744Proteus syndrome54
HP:0000098HP:0000098Tall stature0APC2 CL E G H1029724036ORPHA:821Sotos syndromeHP:0040281 - Very frequent1
HP:0000098HP:0000098Tall stature0AR CL E G H367644ORPHA:99429Complete androgen insensitivity syndromeHP:0040281 - Very frequent125
HP:0000098HP:0000098Tall stature0ASXL3 CL E G H8081629357ORPHA:352577Bainbridge-Ropers syndrome49
HP:0000098HP:0000098Tall stature0ASXL3 CL E G H8081629357OMIM:615485BAINBRIDGE-ROPERS SYNDROME; BRPS49
HP:0000098HP:0000098Tall stature0ATP6V1A CL E G H523851OMIM:617403Cutis laxa, autosomal recessive, type IID3
HP:0000098HP:0000098Tall stature0ATP6V1E1 CL E G H529857OMIM:617402Cutis laxa, autosomal recessive, type IIC2
HP:0000098HP:0000098Tall stature0BSCL2 CL E G H2658015832ORPHA:528Congenital generalized lipodystrophy105
HP:0000098HP:0000098Tall stature0BSCL2 CL E G H2658015832OMIM:269700Lipodystrophy, congenital generalized, type 2.105
HP:0000098HP:0000098Tall stature0C1R CL E G H7151246OMIM:130080Ehlers-Danlos syndrome, periodontal type, 1HP:0040283 - Occasional15
HP:0000098HP:0000098Tall stature0CAMK2A CL E G H8151460OMIM:617798Mental retardation, autosomal dominant 531
HP:0000098HP:0000098Tall stature0CAV1 CL E G H8571527ORPHA:528Congenital generalized lipodystrophy11
HP:0000098HP:0000098Tall stature0CAVIN1 CL E G H2841199688ORPHA:528Congenital generalized lipodystrophy48
HP:0000098HP:0000098Tall stature0CBS CL E G H8751550ORPHA:394Classic homocystinuria242
HP:0000098HP:0000098Tall stature0CBS CL E G H8751550OMIM:236200Homocystinuria due to cystathionine beta-synthase deficiency.242
HP:0000098HP:0000098Tall stature0CCND1 CL E G H5951582ORPHA:29073Multiple myelomaHP:0040283 - Occasional1
HP:0000098HP:0000098Tall stature0CDKN1A CL E G H10261784ORPHA:652Multiple endocrine neoplasia type 12
HP:0000098HP:0000098Tall stature0CDKN1B CL E G H10271785ORPHA:652Multiple endocrine neoplasia type 1102
HP:0000098HP:0000098Tall stature0CDKN1C CL E G H10281786OMIM:130650Beckwith-Wiedemann syndrome114
HP:0000098HP:0000098Tall stature0CDKN2B CL E G H10301788ORPHA:652Multiple endocrine neoplasia type 11
HP:0000098HP:0000098Tall stature0CDKN2C CL E G H10311789ORPHA:652Multiple endocrine neoplasia type 1
HP:0000098HP:0000098Tall stature0CHD8 CL E G H5768020153OMIM:615032AUTISM, SUSCEPTIBILITY TO, 18; AUTS1872
HP:0000098HP:0000098Tall stature0CHST14 CL E G H11318924464ORPHA:2953Musculocontractural Ehlers-Danlos syndrome27
HP:0000098HP:0000098Tall stature0CIC CL E G H2315214214OMIM:617600Mental retardation, autosomal dominant 4539
HP:0000098HP:0000098Tall stature0CNOT1 CL E G H230197877OMIM:619033VISSERS-BODMER SYNDROME; VIBOS2
HP:0000098HP:0000098Tall stature0COL1A2 CL E G H12782198ORPHA:230851Cardiac-valvular Ehlers-Danlos syndrome243
HP:0000098HP:0000098Tall stature0COL2A1 CL E G H12802200OMIM:108300Stickler syndrome, type I284
HP:0000098HP:0000098Tall stature0COL6A1 CL E G H12912211OMIM:254090Ullrich congenital muscular dystrophy 1442
HP:0000098HP:0000098Tall stature0COL6A2 CL E G H12922212OMIM:254090Ullrich congenital muscular dystrophy 1478
HP:0000098HP:0000098Tall stature0COL6A3 CL E G H12932213OMIM:254090Ullrich congenital muscular dystrophy 1702
HP:0000098HP:0000098Tall stature0CPLX1 CL E G H108152309ORPHA:280Wolf-Hirschhorn syndrome1
HP:0000098HP:0000098Tall stature0CTBP1 CL E G H14872494ORPHA:280Wolf-Hirschhorn syndrome2
HP:0000098HP:0000098Tall stature0CYP19A1 CL E G H15882594ORPHA:91Aromatase deficiencyHP:0040281 - Very frequent60
HP:0000098HP:0000098Tall stature0DICER1 CL E G H2340517098OMIM:618272Global developmental delay, lung cysts, overgrowth, and wilms tumor670
HP:0000098HP:0000098Tall stature0DIS3L2 CL E G H12956328648ORPHA:2849Perlman syndromeHP:0040281 - Very frequent164
HP:0000098HP:0000098Tall stature0DLG4 CL E G H17422903OMIM:618793INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 62; MRD622
HP:0000098HP:0000098Tall stature0DLK1 CL E G H87882907ORPHA:254534Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation1
HP:0000098HP:0000098Tall stature0DLK1 CL E G H87882907ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 141
HP:0000098HP:0000098Tall stature0DNA2 CL E G H17632939ORPHA:352470DNA2-related mitochondrial DNA deletion syndrome41
HP:0000098HP:0000098Tall stature0DNA2 CL E G H17632939OMIM:615156Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal dominant, 641
HP:0000098HP:0000098Tall stature0DNMT3A CL E G H17882978ORPHA:404443Tatton-Brown-Rahman syndrome44
HP:0000098HP:0000098Tall stature0DNMT3A CL E G H17882978OMIM:615879Tatton-Brown-Rahman syndrome.44
HP:0000098HP:0000098Tall stature0DSE CL E G H2994021144ORPHA:2953Musculocontractural Ehlers-Danlos syndrome13
HP:0000098HP:0000098Tall stature0EED CL E G H87263188OMIM:617561Cohen-Gibson syndrome.4
HP:0000098HP:0000098Tall stature0EED CL E G H87263188ORPHA:3447Weaver syndromeHP:0040281 - Very frequent4
HP:0000098HP:0000098Tall stature0EFEMP2 CL E G H300083219OMIM:614437Cutis laxa, autosomal recessive, type IB45
HP:0000098HP:0000098Tall stature0EHMT1 CL E G H7981324650ORPHA:261652Kleefstra syndrome due to a point mutation223
HP:0000098HP:0000098Tall stature0ELN CL E G H20063327ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional172
HP:0000098HP:0000098Tall stature0ESR1 CL E G H20993467ORPHA:785Estrogen resistance syndromeHP:0040281 - Very frequent13
HP:0000098HP:0000098Tall stature0EZH2 CL E G H21463527ORPHA:3447Weaver syndromeHP:0040281 - Very frequent81
HP:0000098HP:0000098Tall stature0EZH2 CL E G H21463527OMIM:277590Weaver syndrome81
HP:0000098HP:0000098Tall stature0FAM20A CL E G H5475723015OMIM:204690Enamel-Renal syndrome16
HP:0000098HP:0000098Tall stature0FARSB CL E G H1005617800OMIM:613658Rajab interstitial lung disease with brain calcifications
HP:0000098HP:0000098Tall stature0FBLN5 CL E G H105163602OMIM:219100Cutis laxa, autosomal recessive, type IA63
HP:0000098HP:0000098Tall stature0FBN1 CL E G H22003603ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional1361
HP:0000098HP:0000098Tall stature0FBN1 CL E G H22003603OMIM:616914Marfan lipodystrophy syndrome1361
HP:0000098HP:0000098Tall stature0FBN1 CL E G H22003603OMIM:154700Marfan syndrome.1361
HP:0000098HP:0000098Tall stature0FBN1 CL E G H22003603OMIM:604308MASS SYNDROME1361
HP:0000098HP:0000098Tall stature0FBN2 CL E G H22013604ORPHA:115Congenital contractural arachnodactyly655
HP:0000098HP:0000098Tall stature0FBN2 CL E G H22013604OMIM:121050Contractural arachnodactyly, congenital655
HP:0000098HP:0000098Tall stature0FBXO11 CL E G H8020413590OMIM:618089Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities7
HP:0000098HP:0000098Tall stature0FGF3 CL E G H22483681ORPHA:90024Deafness with labyrinthine aplasia, microtia, and microdontiaHP:0040283 - Occasional18
HP:0000098HP:0000098Tall stature0FGFR3 CL E G H22613690OMIM:610474Camptodactyly, tall stature, and hearing loss syndrome.145
HP:0000098HP:0000098Tall stature0FIBP CL E G H91583705ORPHA:500095Tall stature-intellectual disability-renal anomalies syndrome2
HP:0000098HP:0000098Tall stature0FIBP CL E G H91583705OMIM:617107Thauvin-Robinet-Faivre syndrome.2
HP:0000098HP:0000098Tall stature0FKBP14 CL E G H5503318625ORPHA:300179Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency13
HP:0000098HP:0000098Tall stature0FOS CL E G H23533796ORPHA:528Congenital generalized lipodystrophy
HP:0000098HP:0000098Tall stature0FOXE3 CL E G H23013808ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional23
HP:0000098HP:0000098Tall stature0GLI3 CL E G H27374319ORPHA:36Acrocallosal syndromeHP:0040283 - Occasional270
HP:0000098HP:0000098Tall stature0GPC3 CL E G H27194451ORPHA:373Simpson-Golabi-Behmel syndromeHP:0040281 - Very frequent73
HP:0000098HP:0000098Tall stature0GPC3 CL E G H27194451OMIM:312870Simpson-golabi-behmel syndrome, type 1.73
HP:0000098HP:0000098Tall stature0GPC4 CL E G H22394452ORPHA:373Simpson-Golabi-Behmel syndromeHP:0040281 - Very frequent
HP:0000098HP:0000098Tall stature0GPC4 CL E G H22394452OMIM:312870Simpson-golabi-behmel syndrome, type 1.
HP:0000098HP:0000098Tall stature0GPR101 CL E G H8355014963ORPHA:963AcromegalyHP:0040281 - Very frequent5
HP:0000098HP:0000098Tall stature0GPR101 CL E G H8355014963OMIM:300942Chromosome Xq26.3 duplication syndrome5
HP:0000098HP:0000098Tall stature0GRIA3 CL E G H28924573OMIM:300699Mental retardation, X-linked 9430
HP:0000098HP:0000098Tall stature0GRIA3 CL E G H28924573ORPHA:364028X-linked intellectual disability due to GRIA3 mutations30
HP:0000098HP:0000098Tall stature0H19-ICR CL E G H105259599OMIM:130650Beckwith-Wiedemann syndrome
HP:0000098HP:0000098Tall stature0H3-3B CL E G H30214765OMIM:619721BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2; BRYLIB2
HP:0000098HP:0000098Tall stature0HERC1 CL E G H89254867OMIM:617011Macrocephaly, dysmorphic facies, and psychomotor retardation.16
HP:0000098HP:0000098Tall stature0HERC1 CL E G H89254867ORPHA:457359Megalencephaly-severe kyphoscoliosis-overgrowth syndrome16
HP:0000098HP:0000098Tall stature0HEY2 CL E G H234934881ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional
HP:0000098HP:0000098Tall stature0HNRNPK CL E G H31905044ORPHA:352665Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion8
HP:0000098HP:0000098Tall stature0HNRNPK CL E G H31905044ORPHA:453504Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation8
HP:0000098HP:0000098Tall stature0HPGD CL E G H32485154OMIM:259100Hypertrophic osteoarthropathy, primary, autosomal recessive 155
HP:0000098HP:0000098Tall stature0HRAS CL E G H32655173OMIM:218040Costello syndrome113
HP:0000098HP:0000098Tall stature0HRAS CL E G H32655173OMIM:163200Schimmelpenning-Feuerstein-Mims syndrome113
HP:0000098HP:0000098Tall stature0HSPG2 CL E G H33395273OMIM:224410Dyssegmental dysplasia, Silverman-Handmaker type345
HP:0000098HP:0000098Tall stature0IGF2 CL E G H34815466OMIM:130650Beckwith-Wiedemann syndrome9
HP:0000098HP:0000098Tall stature0IPO8 CL E G H105269853ORPHA:60030Loeys-Dietz syndromeHP:0040282 - Frequent
HP:0000098HP:0000098Tall stature0KANSL1 CL E G H28405824565ORPHA:36395817q21.31 microdeletion syndrome283
HP:0000098HP:0000098Tall stature0KANSL1 CL E G H28405824565ORPHA:363965Koolen-De Vries syndrome due to a point mutation283
HP:0000098HP:0000098Tall stature0KBTBD13 CL E G H39059437227ORPHA:171439Childhood-onset nemaline myopathy80
HP:0000098HP:0000098Tall stature0KCNQ1 CL E G H37846294OMIM:130650Beckwith-Wiedemann syndrome730
HP:0000098HP:0000098Tall stature0KCNQ1OT1 CL E G H109846295OMIM:130650Beckwith-Wiedemann syndrome1
HP:0000098HP:0000098Tall stature0KIF7 CL E G H37465430497ORPHA:36Acrocallosal syndromeHP:0040283 - Occasional167
HP:0000098HP:0000098Tall stature0KLHL41 CL E G H1032416905ORPHA:171439Childhood-onset nemaline myopathy13
HP:0000098HP:0000098Tall stature0KMT2C CL E G H5850813726ORPHA:261652Kleefstra syndrome due to a point mutation99
HP:0000098HP:0000098Tall stature0KRAS CL E G H38456407OMIM:163200Schimmelpenning-Feuerstein-Mims syndrome196
HP:0000098HP:0000098Tall stature0LARS2 CL E G H2339517095OMIM:615300Perrault syndrome 454
HP:0000098HP:0000098Tall stature0LETM1 CL E G H39546556ORPHA:280Wolf-Hirschhorn syndrome2
HP:0000098HP:0000098Tall stature0LHCGR CL E G H39736585ORPHA:3000Familial male-limited precocious pubertyHP:0040281 - Very frequent67
HP:0000098HP:0000098Tall stature0LOX CL E G H40156664OMIM:617168Aortic aneurysm, familial thoracic 10HP:0040283 - Occasional6
HP:0000098HP:0000098Tall stature0LOX CL E G H40156664ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional6
HP:0000098HP:0000098Tall stature0LRP4 CL E G H40386696ORPHA:3152SclerosteosisHP:0040281 - Very frequent124
HP:0000098HP:0000098Tall stature0MAN2B1 CL E G H41256826ORPHA:309282Alpha-mannosidosis, infantile form136
HP:0000098HP:0000098Tall stature0MAT2A CL E G H41446904ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional13
HP:0000098HP:0000098Tall stature0MC2R CL E G H41586930ORPHA:361Familial glucocorticoid deficiencyHP:0040283 - Occasional94
HP:0000098HP:0000098Tall stature0MC2R CL E G H41586930OMIM:202200Glucocorticoid deficiency 1.94
HP:0000098HP:0000098Tall stature0MC4R CL E G H41606932OMIM:618406BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20; BMIQ2054
HP:0000098HP:0000098Tall stature0MED12 CL E G H996811957ORPHA:93932FG syndrome type 1228
HP:0000098HP:0000098Tall stature0MED12 CL E G H996811957OMIM:309520Lujan-Fryns syndrome228
HP:0000098HP:0000098Tall stature0MED12 CL E G H996811957ORPHA:776Lujan-Fryns syndrome228
HP:0000098HP:0000098Tall stature0MEG3 CL E G H5538414575ORPHA:254534Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation1
HP:0000098HP:0000098Tall stature0MEG3 CL E G H5538414575ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 141
HP:0000098HP:0000098Tall stature0MEN1 CL E G H42217010ORPHA:652Multiple endocrine neoplasia type 1462
HP:0000098HP:0000098Tall stature0MEN1 CL E G H42217010ORPHA:99725Pituitary gigantismHP:0040281 - Very frequent462
HP:0000098HP:0000098Tall stature0MFAP5 CL E G H807629673OMIM:616166AORTIC ANEURYSM, FAMILIAL THORACIC 9; AAT911
HP:0000098HP:0000098Tall stature0MFAP5 CL E G H807629673ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional11
HP:0000098HP:0000098Tall stature0MRAP CL E G H562461304ORPHA:361Familial glucocorticoid deficiencyHP:0040283 - Occasional26
HP:0000098HP:0000098Tall stature0MTM1 CL E G H45347448OMIM:310400Myopathy, centronuclear, X-linked185
HP:0000098HP:0000098Tall stature0MYH11 CL E G H46297569ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional418
HP:0000098HP:0000098Tall stature0MYLK CL E G H46387590ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional326
HP:0000098HP:0000098Tall stature0MYPN CL E G H8466523246ORPHA:171439Childhood-onset nemaline myopathy217
HP:0000098HP:0000098Tall stature0NEB CL E G H47037720ORPHA:171439Childhood-onset nemaline myopathy745
HP:0000098HP:0000098Tall stature0NEB CL E G H47037720ORPHA:399103Distal nebulin myopathy745
HP:0000098HP:0000098Tall stature0NEB CL E G H47037720OMIM:256030Nemaline myopathy 2, autosomal recessive745
HP:0000098HP:0000098Tall stature0NELFA CL E G H746912768ORPHA:280Wolf-Hirschhorn syndrome
HP:0000098HP:0000098Tall stature0NF1 CL E G H47637765ORPHA:363700Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion1952
HP:0000098HP:0000098Tall stature0NF1 CL E G H47637765OMIM:162200Neurofibromatosis, type I1952
HP:0000098HP:0000098Tall stature0NFIX CL E G H47847788ORPHA:420179Malan overgrowth syndromeHP:0040282 - Frequent40
HP:0000098HP:0000098Tall stature0NFIX CL E G H47847788OMIM:602535Marshall-Smith syndrome.40
HP:0000098HP:0000098Tall stature0NFIX CL E G H47847788OMIM:614753Sotos syndrome 240
HP:0000098HP:0000098Tall stature0NKAP CL E G H7957629873OMIM:301039INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE; MRXSHD
HP:0000098HP:0000098Tall stature0NNT CL E G H235307863ORPHA:361Familial glucocorticoid deficiencyHP:0040283 - Occasional13
HP:0000098HP:0000098Tall stature0NONO CL E G H48417871ORPHA:466791Macrocephaly-intellectual disability-left ventricular non compaction syndrome10
HP:0000098HP:0000098Tall stature0NONO CL E G H48417871OMIM:300967MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS3410
HP:0000098HP:0000098Tall stature0NPR2 CL E G H48827944OMIM:615923Epiphyseal chondrodysplasia, Miura type.53
HP:0000098HP:0000098Tall stature0NPR3 CL E G H48837945OMIM:619543BOUDIN-MORTIER SYNDROME; BOMOS
HP:0000098HP:0000098Tall stature0NRAS CL E G H48937989OMIM:163200Schimmelpenning-Feuerstein-Mims syndrome102
HP:0000098HP:0000098Tall stature0NSD1 CL E G H6432414234ORPHA:821Sotos syndromeHP:0040281 - Very frequent544
HP:0000098HP:0000098Tall stature0NSD1 CL E G H6432414234OMIM:117550Sotos syndrome 1544
HP:0000098HP:0000098Tall stature0NSD1 CL E G H6432414234ORPHA:3447Weaver syndromeHP:0040281 - Very frequent544
HP:0000098HP:0000098Tall stature0NSD2 CL E G H746812766ORPHA:280Wolf-Hirschhorn syndrome118
HP:0000098HP:0000098Tall stature0NSDHL CL E G H5081413398OMIM:300831Ck syndrome34
HP:0000098HP:0000098Tall stature0NSDHL CL E G H5081413398ORPHA:251383CK syndrome34
HP:0000098HP:0000098Tall stature0PAFAH1B1 CL E G H50488574ORPHA:21738517p13.3 microduplication syndromeHP:0040283 - Occasional231
HP:0000098HP:0000098Tall stature0PDE11A CL E G H509408773ORPHA:1359Carney complex13
HP:0000098HP:0000098Tall stature0PDGFRB CL E G H51598804OMIM:616592Kosaki overgrowth syndrome.28
HP:0000098HP:0000098Tall stature0PIGA CL E G H52778957OMIM:300868Multiple congenital anomalies-hypotonia-seizures syndrome 246
HP:0000098HP:0000098Tall stature0PIGG CL E G H5487225985ORPHA:280Wolf-Hirschhorn syndrome7
HP:0000098HP:0000098Tall stature0PIGL CL E G H94878966ORPHA:3474CHIME syndromeHP:0040281 - Very frequent36
HP:0000098HP:0000098Tall stature0PIK3CA CL E G H52908975OMIM:612918Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi162
HP:0000098HP:0000098Tall stature0PIK3CA CL E G H52908975ORPHA:276280Hemihyperplasia-multiple lipomatosis syndrome162
HP:0000098HP:0000098Tall stature0PIK3CA CL E G H52908975OMIM:602501Megalencephaly-Capillary malformation-polymicrogyria syndrome162
HP:0000098HP:0000098Tall stature0PIK3R2 CL E G H52968980OMIM:603387Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome12
HP:0000098HP:0000098Tall stature0PLOD1 CL E G H53519081OMIM:225400Ehlers-Danlos syndrome, kyphoscoliotic type, 1105
HP:0000098HP:0000098Tall stature0PLOD1 CL E G H53519081ORPHA:1900Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency105
HP:0000098HP:0000098Tall stature0POLG CL E G H54289179OMIM:603041Mitochondrial DNA depletion syndrome 1 (mngie type)464
HP:0000098HP:0000098Tall stature0POLG CL E G H54289179OMIM:613662Mitochondrial DNA depletion syndrome 4B (mngie type)464
HP:0000098HP:0000098Tall stature0POLR3A CL E G H1112830074ORPHA:3455Wiedemann-Rautenstrauch syndrome138
HP:0000098HP:0000098Tall stature0POR CL E G H54479208ORPHA:95699Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency76
HP:0000098HP:0000098Tall stature0PPARG CL E G H54689236ORPHA:528Congenital generalized lipodystrophy42
HP:0000098HP:0000098Tall stature0PRKAR1A CL E G H55739388ORPHA:1359Carney complex134
HP:0000098HP:0000098Tall stature0PRKG1 CL E G H55929414ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional41
HP:0000098HP:0000098Tall stature0PTCH1 CL E G H57279585ORPHA:77301Monosomy 9q22.3HP:0040281 - Very frequent665
HP:0000098HP:0000098Tall stature0PTEN CL E G H57289588ORPHA:109Bannayan-Riley-Ruvalcaba syndromeHP:0040283 - Occasional948
HP:0000098HP:0000098Tall stature0PTEN CL E G H57289588ORPHA:744Proteus syndrome948
HP:0000098HP:0000098Tall stature0PYROXD1 CL E G H7991226162OMIM:617258MYOPATHY, MYOFIBRILLAR, 8; MFM85
HP:0000098HP:0000098Tall stature0RERE CL E G H4739965OMIM:616975Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart16
HP:0000098HP:0000098Tall stature0RET CL E G H59799967OMIM:162300Multiple endocrine neoplasia, type IIB572
HP:0000098HP:0000098Tall stature0RNF135 CL E G H8428221158ORPHA:137634Overgrowth-macrocephaly-facial dysmorphism syndromeHP:0040281 - Very frequent11
HP:0000098HP:0000098Tall stature0RTL1 CL E G H38801514665ORPHA:254534Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation
HP:0000098HP:0000098Tall stature0RTL1 CL E G H38801514665ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0000098HP:0000098Tall stature0SARS1 CL E G H630110537OMIM:617709Neurodevelopmental disorder with microcephaly, ataxia, and seizures
HP:0000098HP:0000098Tall stature0SETD2 CL E G H2907218420OMIM:616831Luscan-Lumish syndrome60
HP:0000098HP:0000098Tall stature0SETD2 CL E G H2907218420ORPHA:821Sotos syndromeHP:0040281 - Very frequent60
HP:0000098HP:0000098Tall stature0SHANK3 CL E G H8535814294OMIM:606232Phelan-Mcdermid syndrome53
HP:0000098HP:0000098Tall stature0SLC6A8 CL E G H653511055OMIM:300352Creatine deficiency syndrome, X-linked.122
HP:0000098HP:0000098Tall stature0SMAD2 CL E G H40876768ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional7
HP:0000098HP:0000098Tall stature0SMAD2 CL E G H40876768OMIM:619656LOEYS-DIETZ SYNDROME 6; LDS67
HP:0000098HP:0000098Tall stature0SMAD3 CL E G H40886769ORPHA:284984Aneurysm-osteoarthritis syndrome260
HP:0000098HP:0000098Tall stature0SMAD3 CL E G H40886769ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional260
HP:0000098HP:0000098Tall stature0SMAD3 CL E G H40886769OMIM:613795LOEYS-DIETZ SYNDROME 3; LDS3260
HP:0000098HP:0000098Tall stature0SMAD4 CL E G H40896770ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional504
HP:0000098HP:0000098Tall stature0SMS CL E G H661111123OMIM:309583Mental retardation, X-linked, syndromic, Snyder-Robinson type.19
HP:0000098HP:0000098Tall stature0SMS CL E G H661111123ORPHA:3063X-linked intellectual disability, Snyder type19
HP:0000098HP:0000098Tall stature0SOST CL E G H5096413771ORPHA:3152SclerosteosisHP:0040281 - Very frequent26
HP:0000098HP:0000098Tall stature0SOST CL E G H5096413771OMIM:269500Sclerosteosis 126
HP:0000098HP:0000098Tall stature0SRY CL E G H673611311OMIM:40004546XX sex reversal 1.23
HP:0000098HP:0000098Tall stature0SRY CL E G H673611311OMIM:40004446XY sex reversal 1.23
HP:0000098HP:0000098Tall stature0STAR CL E G H677011359ORPHA:361Familial glucocorticoid deficiencyHP:0040283 - Occasional45
HP:0000098HP:0000098Tall stature0STRADA CL E G H9233530172OMIM:611087Polyhydramnios, megalencephaly, and symptomatic epilepsy6
HP:0000098HP:0000098Tall stature0SUFU CL E G H5168416466OMIM:617757Joubert syndrome 32.124
HP:0000098HP:0000098Tall stature0SUZ12 CL E G H2351217101OMIM:618786IMAGAWA-MATSUMOTO SYNDROME; IMMAS1
HP:0000098HP:0000098Tall stature0SUZ12 CL E G H2351217101ORPHA:3447Weaver syndromeHP:0040281 - Very frequent1
HP:0000098HP:0000098Tall stature0TCF20 CL E G H694211631OMIM:618430Developmental delay with variable intellectual impairment and behavioral abnormalitiesHP:0040284 - Very rare1
HP:0000098HP:0000098Tall stature0TGFB1 CL E G H704011766OMIM:131300Camurati-Engelmann disease13
HP:0000098HP:0000098Tall stature0TGFB1 CL E G H704011766ORPHA:1328Camurati-Engelmann disease13
HP:0000098HP:0000098Tall stature0TGFB2 CL E G H704211768ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional162
HP:0000098HP:0000098Tall stature0TGFB2 CL E G H704211768OMIM:614816LOEYS-DIETZ SYNDROME 4; LDS4162
HP:0000098HP:0000098Tall stature0TGFB3 CL E G H704311769ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional85
HP:0000098HP:0000098Tall stature0TGFB3 CL E G H704311769OMIM:615582LOEYS-DIETZ SYNDROME 5; LDS585
HP:0000098HP:0000098Tall stature0TGFBR1 CL E G H704611772ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional239
HP:0000098HP:0000098Tall stature0TGFBR1 CL E G H704611772ORPHA:60030Loeys-Dietz syndromeHP:0040282 - Frequent239
HP:0000098HP:0000098Tall stature0TGFBR1 CL E G H704611772OMIM:609192Loeys-Dietz syndrome 1239
HP:0000098HP:0000098Tall stature0TGFBR2 CL E G H704811773ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional253
HP:0000098HP:0000098Tall stature0TGFBR2 CL E G H704811773ORPHA:60030Loeys-Dietz syndromeHP:0040282 - Frequent253
HP:0000098HP:0000098Tall stature0TGFBR2 CL E G H704811773OMIM:610168Loeys-Dietz syndrome 2253
HP:0000098HP:0000098Tall stature0THSD4 CL E G H7987525835OMIM:619825AORTIC ANEURYSM, FAMILIAL THORACIC 12; AAT122
HP:0000098HP:0000098Tall stature0TIMM50 CL E G H9260923656ORPHA:5052163-methylglutaconic aciduria type 91
HP:0000098HP:0000098Tall stature0TPM2 CL E G H716912011ORPHA:171439Childhood-onset nemaline myopathy54
HP:0000098HP:0000098Tall stature0TPM3 CL E G H717012012ORPHA:171439Childhood-onset nemaline myopathy108
HP:0000098HP:0000098Tall stature0TRIM32 CL E G H2295416380ORPHA:1878TRIM32-related limb-girdle muscular dystrophy R8HP:0040282 - Frequent108
HP:0000098HP:0000098Tall stature0TUBB4A CL E G H1038220774OMIM:128101Dystonia 4, torsion, autosomal dominant66
HP:0000098HP:0000098Tall stature0TXNRD2 CL E G H1058718155ORPHA:361Familial glucocorticoid deficiencyHP:0040283 - Occasional85
HP:0000098HP:0000098Tall stature0TYMP CL E G H18903148OMIM:603041Mitochondrial DNA depletion syndrome 1 (mngie type)138
HP:0000098HP:0000098Tall stature0UPF3B CL E G H6510920439ORPHA:776Lujan-Fryns syndrome33
HP:0000098HP:0000098Tall stature0UPF3B CL E G H6510920439OMIM:300676MENTAL RETARDATION, X-LINKED, SYNDROMIC 14; MRXS1433
HP:0000098HP:0000098Tall stature0WRN CL E G H748612791ORPHA:902Werner syndrome310
HP:0000098HP:0000098Tall stature0YWHAE CL E G H753112851ORPHA:21738517p13.3 microduplication syndromeHP:0040283 - Occasional14
HP:0000098HP:0000098Tall stature0ZDHHC9 CL E G H5111418475ORPHA:776Lujan-Fryns syndrome10
HP:0000098HP:0000098Tall stature0ZDHHC9 CL E G H5111418475OMIM:300799Mental retardation, x-linked syndromic, Raymond type10
HP:0000098HP:0000098Tall stature0ZNF469 CL E G H8462723216OMIM:229200Brittle cornea syndrome397
HP:0000098HP:0001533Slender build1ACTA1 CL E G H58129ORPHA:171439Childhood-onset nemaline myopathyHP:0040283 - Occasional96
HP:0000098HP:0001533Slender build1ACTA1 CL E G H58129OMIM:161800Nemaline myopathy 3.96
HP:0000098HP:0011407Proportionate tall stature1AGPAT2 CL E G H10555325ORPHA:528Congenital generalized lipodystrophyHP:0040283 - Occasional85
HP:0000098HP:0011407Proportionate tall stature1AIP CL E G H9049358ORPHA:99725Pituitary gigantismHP:0040281 - Very frequent95
HP:0000098HP:0001519Disproportionate tall stature1AKT1 CL E G H207391ORPHA:744Proteus syndromeHP:0040281 - Very frequent54
HP:0000098HP:0001519Disproportionate tall stature1ASXL3 CL E G H8081629357ORPHA:352577Bainbridge-Ropers syndromeHP:0040283 - Occasional49
HP:0000098HP:0001519Disproportionate tall stature1ASXL3 CL E G H8081629357OMIM:615485BAINBRIDGE-ROPERS SYNDROME; BRPS49
HP:0000098HP:0001519Disproportionate tall stature1ATP6V1A CL E G H523851OMIM:617403Cutis laxa, autosomal recessive, type IID.3
HP:0000098HP:0001519Disproportionate tall stature1ATP6V1E1 CL E G H529857OMIM:617402Cutis laxa, autosomal recessive, type IIC.2
HP:0000098HP:0011407Proportionate tall stature1BSCL2 CL E G H2658015832ORPHA:528Congenital generalized lipodystrophyHP:0040283 - Occasional105
HP:0000098HP:0001548Overgrowth1CAMK2A CL E G H8151460OMIM:617798Mental retardation, autosomal dominant 531
HP:0000098HP:0011407Proportionate tall stature1CAV1 CL E G H8571527ORPHA:528Congenital generalized lipodystrophyHP:0040283 - Occasional11
HP:0000098HP:0011407Proportionate tall stature1CAVIN1 CL E G H2841199688ORPHA:528Congenital generalized lipodystrophyHP:0040283 - Occasional48
HP:0000098HP:0001519Disproportionate tall stature1CBS CL E G H8751550ORPHA:394Classic homocystinuriaHP:0040281 - Very frequent242
HP:0000098HP:0001519Disproportionate tall stature1CBS CL E G H8751550OMIM:236200Homocystinuria due to cystathionine beta-synthase deficiency242
HP:0000098HP:0011407Proportionate tall stature1CDKN1A CL E G H10261784ORPHA:652Multiple endocrine neoplasia type 1HP:0040283 - Occasional2
HP:0000098HP:0011407Proportionate tall stature1CDKN1B CL E G H10271785ORPHA:652Multiple endocrine neoplasia type 1HP:0040283 - Occasional102
HP:0000098HP:0001548Overgrowth1CDKN1C CL E G H10281786OMIM:130650Beckwith-Wiedemann syndrome.114
HP:0000098HP:0011407Proportionate tall stature1CDKN2B CL E G H10301788ORPHA:652Multiple endocrine neoplasia type 1HP:0040283 - Occasional1
HP:0000098HP:0011407Proportionate tall stature1CDKN2C CL E G H10311789ORPHA:652Multiple endocrine neoplasia type 1HP:0040283 - Occasional
HP:0000098HP:0001519Disproportionate tall stature1CHST14 CL E G H11318924464ORPHA:2953Musculocontractural Ehlers-Danlos syndromeHP:0040281 - Very frequent27
HP:0000098HP:0001533Slender build1CIC CL E G H2315214214OMIM:617600Mental retardation, autosomal dominant 4539
HP:0000098HP:0001519Disproportionate tall stature1COL1A2 CL E G H12782198ORPHA:230851Cardiac-valvular Ehlers-Danlos syndromeHP:0040283 - Occasional243
HP:0000098HP:0001519Disproportionate tall stature1COL2A1 CL E G H12802200OMIM:108300Stickler syndrome, type I.284
HP:0000098HP:0001533Slender build1COL6A1 CL E G H12912211OMIM:254090Ullrich congenital muscular dystrophy 1.442
HP:0000098HP:0001533Slender build1COL6A2 CL E G H12922212OMIM:254090Ullrich congenital muscular dystrophy 1.478
HP:0000098HP:0001533Slender build1COL6A3 CL E G H12932213OMIM:254090Ullrich congenital muscular dystrophy 1.702
HP:0000098HP:0001519Disproportionate tall stature1CPLX1 CL E G H108152309ORPHA:280Wolf-Hirschhorn syndromeHP:0040283 - Occasional1
HP:0000098HP:0001519Disproportionate tall stature1CTBP1 CL E G H14872494ORPHA:280Wolf-Hirschhorn syndromeHP:0040283 - Occasional2
HP:0000098HP:0001548Overgrowth1DICER1 CL E G H2340517098OMIM:618272Global developmental delay, lung cysts, overgrowth, and wilms tumor.670
HP:0000098HP:0001519Disproportionate tall stature1DLG4 CL E G H17422903OMIM:618793INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 62; MRD622
HP:0000098HP:0001548Overgrowth1DLK1 CL E G H87882907ORPHA:254534Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylationHP:0040283 - Occasional1
HP:0000098HP:0001548Overgrowth1DLK1 CL E G H87882907ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040284 - Very rare1
HP:0000098HP:0001533Slender build1DNA2 CL E G H17632939ORPHA:352470DNA2-related mitochondrial DNA deletion syndromeHP:0040282 - Frequent41
HP:0000098HP:0001533Slender build1DNA2 CL E G H17632939OMIM:615156Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal dominant, 6.41
HP:0000098HP:0011407Proportionate tall stature1DNMT3A CL E G H17882978ORPHA:404443Tatton-Brown-Rahman syndromeHP:0040281 - Very frequent44
HP:0000098HP:0001548Overgrowth1DNMT3A CL E G H17882978OMIM:615879Tatton-Brown-Rahman syndrome44
HP:0000098HP:0001519Disproportionate tall stature1DSE CL E G H2994021144ORPHA:2953Musculocontractural Ehlers-Danlos syndromeHP:0040281 - Very frequent13
HP:0000098HP:0001548Overgrowth1EED CL E G H87263188OMIM:617561Cohen-Gibson syndrome4
HP:0000098HP:0001548Overgrowth1EFEMP2 CL E G H300083219OMIM:614437Cutis laxa, autosomal recessive, type IBHP:0040283 - Occasional45
HP:0000098HP:0001548Overgrowth1EHMT1 CL E G H7981324650ORPHA:261652Kleefstra syndrome due to a point mutationHP:0040282 - Frequent223
HP:0000098HP:0001548Overgrowth1ESR1 CL E G H20993467ORPHA:785Estrogen resistance syndromeHP:0040281 - Very frequent13
HP:0000098HP:0001548Overgrowth1EZH2 CL E G H21463527OMIM:277590Weaver syndrome81
HP:0000098HP:0001548Overgrowth1FAM20A CL E G H5475723015OMIM:204690Enamel-Renal syndrome.16
HP:0000098HP:0001533Slender build1FARSB CL E G H1005617800OMIM:613658Rajab interstitial lung disease with brain calcifications.
HP:0000098HP:0001548Overgrowth1FBLN5 CL E G H105163602OMIM:219100Cutis laxa, autosomal recessive, type IA.63
HP:0000098HP:0001519Disproportionate tall stature1FBN1 CL E G H22003603OMIM:154700Marfan syndrome1361
HP:0000098HP:0001519Disproportionate tall stature1FBN1 CL E G H22003603OMIM:604308MASS SYNDROME1361
HP:0000098HP:0001533Slender build1FBN2 CL E G H22013604ORPHA:115Congenital contractural arachnodactylyHP:0040281 - Very frequent655
HP:0000098HP:0001519Disproportionate tall stature1FBN2 CL E G H22013604ORPHA:115Congenital contractural arachnodactylyHP:0040282 - Frequent655
HP:0000098HP:0001519Disproportionate tall stature1FBN2 CL E G H22013604OMIM:121050Contractural arachnodactyly, congenital.655
HP:0000098HP:0011407Proportionate tall stature1FIBP CL E G H91583705ORPHA:500095Tall stature-intellectual disability-renal anomalies syndromeHP:0040282 - Frequent2
HP:0000098HP:0001548Overgrowth1FIBP CL E G H91583705OMIM:617107Thauvin-Robinet-Faivre syndrome.2
HP:0000098HP:0001519Disproportionate tall stature1FKBP14 CL E G H5503318625ORPHA:300179Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiencyHP:0040284 - Very rare13
HP:0000098HP:0011407Proportionate tall stature1FOS CL E G H23533796ORPHA:528Congenital generalized lipodystrophyHP:0040283 - Occasional
HP:0000098HP:0003517Birth length greater than 97th percentile1GPC3 CL E G H27194451OMIM:312870Simpson-golabi-behmel syndrome, type 173
HP:0000098HP:0001548Overgrowth1GPC3 CL E G H27194451OMIM:312870Simpson-golabi-behmel syndrome, type 173
HP:0000098HP:0001548Overgrowth1GPC4 CL E G H22394452OMIM:312870Simpson-golabi-behmel syndrome, type 1
HP:0000098HP:0003517Birth length greater than 97th percentile1GPC4 CL E G H22394452OMIM:312870Simpson-golabi-behmel syndrome, type 1
HP:0000098HP:0001548Overgrowth1GPR101 CL E G H8355014963OMIM:300942Chromosome Xq26.3 duplication syndrome5
HP:0000098HP:0001533Slender build1GRIA3 CL E G H28924573OMIM:300699Mental retardation, X-linked 9430
HP:0000098HP:0001533Slender build1GRIA3 CL E G H28924573ORPHA:364028X-linked intellectual disability due to GRIA3 mutationsHP:0040282 - Frequent30
HP:0000098HP:0001548Overgrowth1H19-ICR CL E G H105259599OMIM:130650Beckwith-Wiedemann syndrome.
HP:0000098HP:0001548Overgrowth1H3-3B CL E G H30214765OMIM:619721BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2; BRYLIB2
HP:0000098HP:0001519Disproportionate tall stature1HERC1 CL E G H89254867OMIM:617011Macrocephaly, dysmorphic facies, and psychomotor retardation16
HP:0000098HP:0001548Overgrowth1HERC1 CL E G H89254867ORPHA:457359Megalencephaly-severe kyphoscoliosis-overgrowth syndromeHP:0040281 - Very frequent16
HP:0000098HP:0001533Slender build1HERC1 CL E G H89254867ORPHA:457359Megalencephaly-severe kyphoscoliosis-overgrowth syndromeHP:0040282 - Frequent16
HP:0000098HP:0001519Disproportionate tall stature1HERC1 CL E G H89254867ORPHA:457359Megalencephaly-severe kyphoscoliosis-overgrowth syndromeHP:0040282 - Frequent16
HP:0000098HP:0001548Overgrowth1HNRNPK CL E G H31905044ORPHA:352665Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletionHP:0040283 - Occasional8
HP:0000098HP:0001548Overgrowth1HNRNPK CL E G H31905044ORPHA:453504Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutationHP:0040283 - Occasional8
HP:0000098HP:0001519Disproportionate tall stature1HPGD CL E G H32485154OMIM:259100Hypertrophic osteoarthropathy, primary, autosomal recessive 1.55
HP:0000098HP:0001548Overgrowth1HRAS CL E G H32655173OMIM:218040Costello syndrome.113
HP:0000098HP:0001548Overgrowth1HRAS CL E G H32655173OMIM:163200Schimmelpenning-Feuerstein-Mims syndrome.113
HP:0000098HP:0001548Overgrowth1HSPG2 CL E G H33395273OMIM:224410Dyssegmental dysplasia, Silverman-Handmaker type.345
HP:0000098HP:0001548Overgrowth1IGF2 CL E G H34815466OMIM:130650Beckwith-Wiedemann syndrome.9
HP:0000098HP:0001533Slender build1KANSL1 CL E G H28405824565ORPHA:36395817q21.31 microdeletion syndromeHP:0040283 - Occasional283
HP:0000098HP:0001533Slender build1KANSL1 CL E G H28405824565ORPHA:363965Koolen-De Vries syndrome due to a point mutationHP:0040283 - Occasional283
HP:0000098HP:0001533Slender build1KBTBD13 CL E G H39059437227ORPHA:171439Childhood-onset nemaline myopathyHP:0040283 - Occasional80
HP:0000098HP:0001548Overgrowth1KCNQ1 CL E G H37846294OMIM:130650Beckwith-Wiedemann syndrome.730
HP:0000098HP:0001548Overgrowth1KCNQ1OT1 CL E G H109846295OMIM:130650Beckwith-Wiedemann syndrome.1
HP:0000098HP:0001533Slender build1KLHL41 CL E G H1032416905ORPHA:171439Childhood-onset nemaline myopathyHP:0040283 - Occasional13
HP:0000098HP:0001548Overgrowth1KMT2C CL E G H5850813726ORPHA:261652Kleefstra syndrome due to a point mutationHP:0040282 - Frequent99
HP:0000098HP:0001548Overgrowth1KRAS CL E G H38456407OMIM:163200Schimmelpenning-Feuerstein-Mims syndrome.196
HP:0000098HP:0001519Disproportionate tall stature1LARS2 CL E G H2339517095OMIM:615300Perrault syndrome 454
HP:0000098HP:0001519Disproportionate tall stature1LETM1 CL E G H39546556ORPHA:280Wolf-Hirschhorn syndromeHP:0040283 - Occasional2
HP:0000098HP:0001519Disproportionate tall stature1LOX CL E G H40156664OMIM:617168Aortic aneurysm, familial thoracic 10HP:0040283 - Occasional6
HP:0000098HP:0001519Disproportionate tall stature1MAN2B1 CL E G H41256826ORPHA:309282Alpha-mannosidosis, infantile formHP:0040283 - Occasional136
HP:0000098HP:0001533Slender build1MED12 CL E G H996811957ORPHA:93932FG syndrome type 1HP:0040282 - Frequent228
HP:0000098HP:0001519Disproportionate tall stature1MED12 CL E G H996811957OMIM:309520Lujan-Fryns syndrome.228
HP:0000098HP:0001519Disproportionate tall stature1MED12 CL E G H996811957ORPHA:776Lujan-Fryns syndromeHP:0040281 - Very frequent228
HP:0000098HP:0001548Overgrowth1MEG3 CL E G H5538414575ORPHA:254534Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylationHP:0040283 - Occasional1
HP:0000098HP:0001548Overgrowth1MEG3 CL E G H5538414575ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040284 - Very rare1
HP:0000098HP:0011407Proportionate tall stature1MEN1 CL E G H42217010ORPHA:652Multiple endocrine neoplasia type 1HP:0040283 - Occasional462
HP:0000098HP:0011407Proportionate tall stature1MEN1 CL E G H42217010ORPHA:99725Pituitary gigantismHP:0040281 - Very frequent462
HP:0000098HP:0001519Disproportionate tall stature1MFAP5 CL E G H807629673OMIM:616166AORTIC ANEURYSM, FAMILIAL THORACIC 9; AAT911
HP:0000098HP:0003517Birth length greater than 97th percentile1MTM1 CL E G H45347448OMIM:310400Myopathy, centronuclear, X-linked.185
HP:0000098HP:0001533Slender build1MYPN CL E G H8466523246ORPHA:171439Childhood-onset nemaline myopathyHP:0040283 - Occasional217
HP:0000098HP:0001533Slender build1NEB CL E G H47037720ORPHA:171439Childhood-onset nemaline myopathyHP:0040283 - Occasional745
HP:0000098HP:0001533Slender build1NEB CL E G H47037720ORPHA:399103Distal nebulin myopathyHP:0040283 - Occasional745
HP:0000098HP:0001533Slender build1NEB CL E G H47037720OMIM:256030Nemaline myopathy 2, autosomal recessive.745
HP:0000098HP:0001519Disproportionate tall stature1NELFA CL E G H746912768ORPHA:280Wolf-Hirschhorn syndromeHP:0040283 - Occasional
HP:0000098HP:0011407Proportionate tall stature1NF1 CL E G H47637765ORPHA:363700Neurofibromatosis type 1 due to NF1 mutation or intragenic deletionHP:0040282 - Frequent1952
HP:0000098HP:0001548Overgrowth1NF1 CL E G H47637765OMIM:162200Neurofibromatosis, type I.1952
HP:0000098HP:0001548Overgrowth1NFIX CL E G H47847788OMIM:614753Sotos syndrome 2.40
HP:0000098HP:0001519Disproportionate tall stature1NKAP CL E G H7957629873OMIM:301039INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE; MRXSHD
HP:0000098HP:0001533Slender build1NONO CL E G H48417871ORPHA:466791Macrocephaly-intellectual disability-left ventricular non compaction syndromeHP:0040282 - Frequent10
HP:0000098HP:0001533Slender build1NONO CL E G H48417871OMIM:300967MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS3410
HP:0000098HP:0001548Overgrowth1NRAS CL E G H48937989OMIM:163200Schimmelpenning-Feuerstein-Mims syndrome.102
HP:0000098HP:0001548Overgrowth1NSD1 CL E G H6432414234OMIM:117550Sotos syndrome 1544
HP:0000098HP:0001519Disproportionate tall stature1NSD2 CL E G H746812766ORPHA:280Wolf-Hirschhorn syndromeHP:0040283 - Occasional118
HP:0000098HP:0001533Slender build1NSDHL CL E G H5081413398ORPHA:251383CK syndromeHP:0040281 - Very frequent34
HP:0000098HP:0001533Slender build1NSDHL CL E G H5081413398OMIM:300831Ck syndrome.34
HP:0000098HP:0001548Overgrowth1PDGFRB CL E G H51598804OMIM:616592Kosaki overgrowth syndrome.28
HP:0000098HP:0003517Birth length greater than 97th percentile1PIGA CL E G H52778957OMIM:300868Multiple congenital anomalies-hypotonia-seizures syndrome 2.46
HP:0000098HP:0001548Overgrowth1PIGA CL E G H52778957OMIM:300868Multiple congenital anomalies-hypotonia-seizures syndrome 2.46
HP:0000098HP:0001519Disproportionate tall stature1PIGG CL E G H5487225985ORPHA:280Wolf-Hirschhorn syndromeHP:0040283 - Occasional7
HP:0000098HP:0001548Overgrowth1PIK3CA CL E G H52908975OMIM:612918Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi.HP:0003577 - Congenital onset162
HP:0000098HP:0001548Overgrowth1PIK3CA CL E G H52908975ORPHA:276280Hemihyperplasia-multiple lipomatosis syndromeHP:0040280 - Obligate162
HP:0000098HP:0001548Overgrowth1PIK3CA CL E G H52908975OMIM:602501Megalencephaly-Capillary malformation-polymicrogyria syndrome.162
HP:0000098HP:0001548Overgrowth1PIK3R2 CL E G H52968980OMIM:603387Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome12
HP:0000098HP:0001519Disproportionate tall stature1PLOD1 CL E G H53519081OMIM:225400Ehlers-Danlos syndrome, kyphoscoliotic type, 1.105
HP:0000098HP:0001519Disproportionate tall stature1PLOD1 CL E G H53519081ORPHA:1900Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiencyHP:0040282 - Frequent105
HP:0000098HP:0001533Slender build1POLG CL E G H54289179OMIM:603041Mitochondrial DNA depletion syndrome 1 (mngie type).464
HP:0000098HP:0001533Slender build1POLG CL E G H54289179OMIM:613662Mitochondrial DNA depletion syndrome 4B (mngie type).464
HP:0000098HP:0001533Slender build1POLR3A CL E G H1112830074ORPHA:3455Wiedemann-Rautenstrauch syndromeHP:0040281 - Very frequent138
HP:0000098HP:0001519Disproportionate tall stature1POR CL E G H54479208ORPHA:95699Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiencyHP:0040283 - Occasional76
HP:0000098HP:0011407Proportionate tall stature1PPARG CL E G H54689236ORPHA:528Congenital generalized lipodystrophyHP:0040283 - Occasional42
HP:0000098HP:0001519Disproportionate tall stature1PTEN CL E G H57289588ORPHA:744Proteus syndromeHP:0040281 - Very frequent948
HP:0000098HP:0001519Disproportionate tall stature1RET CL E G H59799967OMIM:162300Multiple endocrine neoplasia, type IIB.572
HP:0000098HP:0001548Overgrowth1RNF135 CL E G H8428221158ORPHA:137634Overgrowth-macrocephaly-facial dysmorphism syndromeHP:0040281 - Very frequent11
HP:0000098HP:0001548Overgrowth1RTL1 CL E G H38801514665ORPHA:254534Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylationHP:0040283 - Occasional
HP:0000098HP:0001548Overgrowth1RTL1 CL E G H38801514665ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040284 - Very rare
HP:0000098HP:0001533Slender build1SARS1 CL E G H630110537OMIM:617709Neurodevelopmental disorder with microcephaly, ataxia, and seizures.
HP:0000098HP:0001548Overgrowth1SETD2 CL E G H2907218420OMIM:616831Luscan-Lumish syndrome60
HP:0000098HP:0001519Disproportionate tall stature1SMAD2 CL E G H40876768OMIM:619656LOEYS-DIETZ SYNDROME 6; LDS67
HP:0000098HP:0001519Disproportionate tall stature1SMAD3 CL E G H40886769ORPHA:284984Aneurysm-osteoarthritis syndromeHP:0040283 - Occasional260
HP:0000098HP:0001519Disproportionate tall stature1SMAD3 CL E G H40886769OMIM:613795LOEYS-DIETZ SYNDROME 3; LDS3260
HP:0000098HP:0001519Disproportionate tall stature1SMS CL E G H661111123ORPHA:3063X-linked intellectual disability, Snyder typeHP:0040282 - Frequent19
HP:0000098HP:0001548Overgrowth1SOST CL E G H5096413771OMIM:269500Sclerosteosis 1.26
HP:0000098HP:0001533Slender build1STRADA CL E G H9233530172OMIM:611087Polyhydramnios, megalencephaly, and symptomatic epilepsy.6
HP:0000098HP:0003517Birth length greater than 97th percentile1SUZ12 CL E G H2351217101OMIM:618786IMAGAWA-MATSUMOTO SYNDROME; IMMAS1
HP:0000098HP:0001548Overgrowth1SUZ12 CL E G H2351217101OMIM:618786IMAGAWA-MATSUMOTO SYNDROME; IMMAS1
HP:0000098HP:0001533Slender build1TGFB1 CL E G H704011766ORPHA:1328Camurati-Engelmann diseaseHP:0040283 - Occasional13
HP:0000098HP:0001533Slender build1TGFB1 CL E G H704011766OMIM:131300Camurati-Engelmann disease13
HP:0000098HP:0001548Overgrowth1TGFB3 CL E G H704311769OMIM:615582LOEYS-DIETZ SYNDROME 5; LDS585
HP:0000098HP:0001519Disproportionate tall stature1TGFBR1 CL E G H704611772OMIM:609192Loeys-Dietz syndrome 1239
HP:0000098HP:0001519Disproportionate tall stature1TGFBR2 CL E G H704811773OMIM:610168Loeys-Dietz syndrome 2253
HP:0000098HP:0001519Disproportionate tall stature1THSD4 CL E G H7987525835OMIM:619825AORTIC ANEURYSM, FAMILIAL THORACIC 12; AAT122
HP:0000098HP:0001533Slender build1TIMM50 CL E G H9260923656ORPHA:5052163-methylglutaconic aciduria type 9HP:0040281 - Very frequent1
HP:0000098HP:0001533Slender build1TPM2 CL E G H716912011ORPHA:171439Childhood-onset nemaline myopathyHP:0040283 - Occasional54
HP:0000098HP:0001533Slender build1TPM3 CL E G H717012012ORPHA:171439Childhood-onset nemaline myopathyHP:0040283 - Occasional108
HP:0000098HP:0001533Slender build1TUBB4A CL E G H1038220774OMIM:128101Dystonia 4, torsion, autosomal dominant.66
HP:0000098HP:0001533Slender build1TYMP CL E G H18903148OMIM:603041Mitochondrial DNA depletion syndrome 1 (mngie type).138
HP:0000098HP:0001519Disproportionate tall stature1UPF3B CL E G H6510920439ORPHA:776Lujan-Fryns syndromeHP:0040281 - Very frequent33
HP:0000098HP:0001533Slender build1UPF3B CL E G H6510920439OMIM:300676MENTAL RETARDATION, X-LINKED, SYNDROMIC 14; MRXS1433
HP:0000098HP:0001533Slender build1WRN CL E G H748612791ORPHA:902Werner syndromeHP:0040281 - Very frequent310
HP:0000098HP:0001519Disproportionate tall stature1ZDHHC9 CL E G H5111418475ORPHA:776Lujan-Fryns syndromeHP:0040281 - Very frequent10
HP:0000098HP:0001519Disproportionate tall stature1ZDHHC9 CL E G H5111418475OMIM:300799Mental retardation, x-linked syndromic, Raymond type.10
HP:0000098HP:0001519Disproportionate tall stature1ZNF469 CL E G H8462723216OMIM:229200Brittle cornea syndrome.397


Genes (170) :ABAT ACTA1 ACTA2 AGGF1 AGPAT2 AIP AKT1 APC2 AR ASXL3 ATP6V1A ATP6V1E1 BSCL2 C1R CAMK2A CAV1 CAVIN1 CBS CCND1 CDKN1A CDKN1B CDKN1C CDKN2B CDKN2C CHD8 CHST14 CIC CNOT1 COL1A2 COL2A1 COL6A1 COL6A2 COL6A3 CPLX1 CTBP1 CYP19A1 DICER1 DIS3L2 DLG4 DLK1 DNA2 DNMT3A DSE EED EFEMP2 EHMT1 ELN ESR1 EZH2 FAM20A FARSB FBLN5 FBN1 FBN2 FBXO11 FGF3 FGFR3 FIBP FKBP14 FOS FOXE3 GLI3 GPC3 GPC4 GPR101 GRIA3 H19-ICR H3-3B HERC1 HEY2 HNRNPK HPGD HRAS HSPG2 IGF2 IPO8 KANSL1 KBTBD13 KCNQ1 KCNQ1OT1 KIF7 KLHL41 KMT2C KRAS LARS2 LETM1 LHCGR LOX LRP4 MAN2B1 MAT2A MC2R MC4R MED12 MEG3 MEN1 MFAP5 MRAP MTM1 MYH11 MYLK MYPN NEB NELFA NF1 NFIX NKAP NNT NONO NPR2 NPR3 NRAS NSD1 NSD2 NSDHL PAFAH1B1 PDE11A PDGFRB PIGA PIGG PIGL PIK3CA PIK3R2 PLOD1 POLG POLR3A POR PPARG PRKAR1A PRKG1 PTCH1 PTEN PYROXD1 RERE RET RNF135 RTL1 SARS1 SETD2 SHANK3 SLC6A8 SMAD2 SMAD3 SMAD4 SMS SOST SRY STAR STRADA SUFU SUZ12 TCF20 TGFB1 TGFB2 TGFB3 TGFBR1 TGFBR2 THSD4 TIMM50 TPM2 TPM3 TRIM32 TUBB4A TXNRD2 TYMP UPF3B WRN YWHAE ZDHHC9 ZNF469

Diseases (159) :OMIM:613163 ORPHA:171439 OMIM:161800 ORPHA:91387 ORPHA:90308 ORPHA:528 OMIM:608594 ORPHA:963 ORPHA:99725 ORPHA:744 ORPHA:821 ORPHA:99429 ORPHA:352577 OMIM:615485 OMIM:617403 OMIM:617402 OMIM:269700 OMIM:130080 OMIM:617798 ORPHA:394 OMIM:236200 ORPHA:29073 ORPHA:652 OMIM:130650 OMIM:615032 ORPHA:2953 OMIM:617600 OMIM:619033 ORPHA:230851 OMIM:108300 OMIM:254090 ORPHA:280 ORPHA:91 OMIM:618272 ORPHA:2849 OMIM:618793 ORPHA:254534 ORPHA:96334 ORPHA:352470 OMIM:615156 ORPHA:404443 OMIM:615879 OMIM:617561 ORPHA:3447 OMIM:614437 ORPHA:261652 ORPHA:785 OMIM:277590 OMIM:204690 OMIM:613658 OMIM:219100 OMIM:616914 OMIM:154700 OMIM:604308 ORPHA:115 OMIM:121050 OMIM:618089 ORPHA:90024 OMIM:610474 ORPHA:500095 OMIM:617107 ORPHA:300179 ORPHA:36 ORPHA:373 OMIM:312870 OMIM:300942 OMIM:300699 ORPHA:364028 OMIM:619721 OMIM:617011 ORPHA:457359 ORPHA:352665 ORPHA:453504 OMIM:259100 OMIM:218040 OMIM:163200 OMIM:224410 ORPHA:60030 ORPHA:363958 ORPHA:363965 OMIM:615300 ORPHA:3000 OMIM:617168 ORPHA:3152 ORPHA:309282 ORPHA:361 OMIM:202200 OMIM:618406 ORPHA:93932 OMIM:309520 ORPHA:776 OMIM:616166 OMIM:310400 ORPHA:399103 OMIM:256030 ORPHA:363700 OMIM:162200 ORPHA:420179 OMIM:602535 OMIM:614753 OMIM:301039 ORPHA:466791 OMIM:300967 OMIM:615923 OMIM:619543 OMIM:117550 OMIM:300831 ORPHA:251383 ORPHA:217385 ORPHA:1359 OMIM:616592 OMIM:300868 ORPHA:3474 OMIM:612918 ORPHA:276280 OMIM:602501 OMIM:603387 OMIM:225400 ORPHA:1900 OMIM:603041 OMIM:613662 ORPHA:3455 ORPHA:95699 ORPHA:77301 ORPHA:109 OMIM:617258 OMIM:616975 OMIM:162300 ORPHA:137634 OMIM:617709 OMIM:616831 OMIM:606232 OMIM:300352 OMIM:619656 ORPHA:284984 OMIM:613795 OMIM:309583 ORPHA:3063 OMIM:269500 OMIM:400045 OMIM:400044 OMIM:611087 OMIM:617757 OMIM:618786 OMIM:618430 OMIM:131300 ORPHA:1328 OMIM:614816 OMIM:615582 OMIM:609192 OMIM:610168 OMIM:619825 ORPHA:505216 ORPHA:1878 OMIM:128101 OMIM:300676 ORPHA:902 OMIM:300799 OMIM:229200
 

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