Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the face (HP:0000271)help
Parent Node:
expand
Abnormal facial shape (HP:0001999)help
..Starting node
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Coarse facial features (HP:0000280)help
Term ID: 280
Name: Coarse facial features
Synonym: Coarse face; Coarse facial appearance; Coarse facial features; Coarse facies; Rounded and heavy facial features; Thickened facial skin with coarse facial features
Definition: Absence of fine and sharp appearance of brows, nose, lips, mouth, and chin, usually because of rounded and heavy features or thickened skin with or without thickening of subcutaneous and bony tissues.
Comments:
Reference: HP:0000280
Genes and Diseases:
 
       Child Nodes:
........expandPugilistic facies (HP:0000339) help

 Sister Nodes: 
..expandAbnormality of the shape of the midface (HP:0430026) help
..expandBird-like facies (HP:0000320) help
..expandCraniofacial disproportion (HP:0005461) help
..expandDoll-like facies (HP:0000295) help
..expandElfin facies (HP:0004428) help
..expandFacial asymmetry (HP:0000324) help
..expandFacial shape deformation (HP:0011334) help
..expandFlat face (HP:0012368) help
..expandLarge face (HP:0100729) help
..expandMoon facies (HP:0500011) help
..expandOval face (HP:0000300) help
..expandRound face (HP:0000311) help
..expandSmall face (HP:0000274) help
..expandSquare face (HP:0000321) help
..expandTriangular face (HP:0000325) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0000280HP:0000280Coarse facial features0 CL E G H105259599130650Beckwith-Wiedemann syndrome130650C0004903OMIM1280
HP:0000280HP:0000280Coarse facial features0ABCA5 CL E G H234612026Hemoglobin EC0019024ORPHA154935612503
HP:0000280HP:0000280Coarse facial features0ABCC9 CL E G H100601517ORPHA14965860601439
HP:0000280HP:0000280Coarse facial features0ABCC9 CL E G H10060965Brachydactyly dwarfism mental retardationORPHA14965860601439
HP:0000280HP:0000280Coarse facial features0ABCC9 CL E G H10060966Brachydactyly elbow wrist dysplasiaORPHA14965860601439
HP:0000280HP:0000280Coarse facial features0ABCC9 CL E G H10060239850Hypertrichotic osteochondrodysplasia239850C0795905OMIM14965860601439
HP:0000280HP:0000280Coarse facial features0ACER3 CL E G H55331617762LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET617762C4540358OMIM111316066617036
HP:0000280HP:0000280Coarse facial features0ACTB CL E G H602995Infant epilepsy with migrant focal crisisORPHA165224132102630
HP:0000280HP:0000280Coarse facial features0ACTG1 CL E G H712995Infant epilepsy with migrant focal crisisORPHA148261144102560
HP:0000280HP:0000280Coarse facial features0AFF4 CL E G H27125616368Chops syndrome616368C4085597OMIM136617869604417
HP:0000280HP:0000280Coarse facial features0AGA CL E G H17593ORPHA138239318613228
HP:0000280HP:0000280Coarse facial features0AGA CL E G H175208400Aspartylglucosaminuria208400C0268225OMIM138239318613228
HP:0000280HP:0000280Coarse facial features0AIMP1 CL E G H9255260600Leukodystrophy, hypomyelinating 3260600C1850053OMIM153410648603605
HP:0000280HP:0000280Coarse facial features0AIP CL E G H9049963ORPHA1112273358605555
HP:0000280HP:0000280Coarse facial features0AIP CL E G H9049102200Somatotroph adenoma102200C0346302OMIM1112273358605555
HP:0000280HP:0000280Coarse facial features0ANTXR2 CL E G H1184292176Epimetaphyseal skeletal dysplasiaORPHA14820421732608041
HP:0000280HP:0000280Coarse facial features0ANTXR2 CL E G H118429228600Hyaline fibromatosis syndrome228600C2745948OMIM14820421732608041
HP:0000280HP:0000280Coarse facial features0AP1S2 CL E G H890585335ORPHA114204560300629
HP:0000280HP:0000280Coarse facial features0AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM114204560300629
HP:0000280HP:0000280Coarse facial features0AP3B1 CL E G H8546608233Hermansky Pudlak syndrome 2608233C1842362OMIM135238566603401
HP:0000280HP:0000280Coarse facial features0AP4B1 CL E G H10717280763ORPHA121140572607245
HP:0000280HP:0000280Coarse facial features0AP4B1 CL E G H10717614066Spastic paraplegia 47, autosomal recessive614066C3279738OMIM121140572607245
HP:0000280HP:0000280Coarse facial features0AP4E1 CL E G H23431280763ORPHA118178573607244
HP:0000280HP:0000280Coarse facial features0AP4E1 CL E G H23431613744Spastic paraplegia 51, autosomal recessive613744C3151056OMIM118178573607244
HP:0000280HP:0000280Coarse facial features0AP4M1 CL E G H9179280763ORPHA115150574602296
HP:0000280HP:0000280Coarse facial features0AP4M1 CL E G H9179612936Spastic paraplegia 50, autosomal recessive612936C2752008OMIM115150574602296
HP:0000280HP:0000280Coarse facial features0AP4S1 CL E G H11154280763ORPHA1859575607243
HP:0000280HP:0000280Coarse facial features0AP4S1 CL E G H11154614067Spastic paraplegia 52, autosomal recessive614067C3279743OMIM1859575607243
HP:0000280HP:0000280Coarse facial features0ARID1A CL E G H82891465ORPHA13617511110603024
HP:0000280HP:0000280Coarse facial features0ARID1B CL E G H574921465ORPHA118857518040614556
HP:0000280HP:0000280Coarse facial features0ARID1B CL E G H57492135900Coffin-Siris syndrome 1135900C3281201OMIM118857518040614556
HP:0000280HP:0000280Coarse facial features0ARID2 CL E G H1965281465ORPHA11111518037609539
HP:0000280HP:0000280Coarse facial features0ARID2 CL E G H196528617808COFFIN-SIRIS SYNDROME 6617808C4540499OMIM11111518037609539
HP:0000280HP:0000280Coarse facial features0ARSB CL E G H411253200Mucopolysaccharidosis type VI253200C0026709OMIM1207446714611542
HP:0000280HP:0000280Coarse facial features0ARX CL E G H1703022508ORPHA19846618060300382
HP:0000280HP:0000280Coarse facial features0ARX CL E G H170302300004Proud Levine Carpenter syndrome300004C0796124OMIM19846618060300382
HP:0000280HP:0000280Coarse facial features0ATRX CL E G H546309580Mental retardation-hypotonic facies syndrome X-linked, 1309580C0796003OMIM1170663886300032
HP:0000280HP:0000280Coarse facial features0BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA15187961605681
HP:0000280HP:0000280Coarse facial features0BRAF CL E G H673115150Cardiofaciocutaneous syndrome 1115150CN029449OMIM1684901097164757
HP:0000280HP:0000280Coarse facial features0BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA1684901097164757
HP:0000280HP:0000280Coarse facial features0BRCA1 CL E G H672617883FANCONI ANEMIA, COMPLEMENTATION GROUP S617883CN850168OMIM12824114981100113705
HP:0000280HP:0000280Coarse facial features0BSCL2 CL E G H26580363400ORPHA15026315832606158
HP:0000280HP:0000280Coarse facial features0C12orf57 CL E G H1132461777ORPHA1812529521615140
HP:0000280HP:0000280Coarse facial features0CCDC47 CL E G H57003618268618268618268OMIM1520248560
HP:0000280HP:0000280Coarse facial features0CDKN1C CL E G H1028130650Beckwith-Wiedemann syndrome130650C0004903OMIM1814711786600856
HP:0000280HP:0000280Coarse facial features0CEP120 CL E G H153241616300Short-rib thoracic dysplasia 13 with or without polydactyly616300C4225378OMIM198726690613446
HP:0000280HP:0000280Coarse facial features0CHD4 CL E G H1108617159Sifrim-Hitz-Weiss syndrome617159C4310688OMIM1231341919603277
HP:0000280HP:0000280Coarse facial features0CLCN4 CL E G H1183300114Mental retardation 49, X-linked300114C3887959OMIM1183342022302910
HP:0000280HP:0000280Coarse facial features0CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA111742586603432
HP:0000280HP:0000280Coarse facial features0COL2A1 CL E G H1280151210Platyspondylic lethal skeletal dysplasia Torrance type151210C1835437OMIM15707312200120140
HP:0000280HP:0000280Coarse facial features0CTSA CL E G H5476351ORPHA1391199251613111
HP:0000280HP:0000280Coarse facial features0CTSA CL E G H5476256540Combined deficiency of sialidase AND beta galactosidase256540C0268233OMIM1391199251613111
HP:0000280HP:0000280Coarse facial features0CUL4B CL E G H8450300354Syndromic X-linked mental retardation, Cabezas type300354C1845861OMIM1402472555300304
HP:0000280HP:0000280Coarse facial features0DENND5A CL E G H23258617281Epileptic encephalopathy, early infantile, 49617281C4310635OMIM194319344617278
HP:0000280HP:0000280Coarse facial features0DPF2 CL E G H59771465ORPHA19149964601671
HP:0000280HP:0000280Coarse facial features0DPF2 CL E G H5977618027COFFIN-SIRIS SYNDROME 7618027CN248780OMIM19149964601671
HP:0000280HP:0000280Coarse facial features0DUOX2 CL E G H5050695716ORPHA118530613273606759
HP:0000280HP:0000280Coarse facial features0DUOXA2 CL E G H40575395716ORPHA1185432698612772
HP:0000280HP:0000280Coarse facial features0DYM CL E G H54808239ORPHA13712421317607461
HP:0000280HP:0000280Coarse facial features0DYM CL E G H54808223800Dyggve-Melchior-Clausen syndrome223800C0265286OMIM13712421317607461
HP:0000280HP:0000280Coarse facial features0EHMT1 CL E G H79813610253Chromosome 9q deletion syndrome610253C0795833OMIM19474624650607001
HP:0000280HP:0000280Coarse facial features0ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA11275233327130160
HP:0000280HP:0000280Coarse facial features0EXT2 CL E G H2132616682Seizures, scoliosis, and macrocephaly syndrome616682C4225248OMIM12582753513608210
HP:0000280HP:0000280Coarse facial features0EXTL3 CL E G H2137617425Immunoskeletal dysplasia with neurodevelopmental abnormalities617425C4479452OMIM19973518605744
HP:0000280HP:0000280Coarse facial features0FAR1 CL E G H84188616154Peroxisomal fatty acyl-coa reductase 1 disorder616154C4015344OMIM144026222616107
HP:0000280HP:0000280Coarse facial features0FBXO31 CL E G H79791615979Mental retardation, autosomal recessive 45615979C4014864OMIM138216510609102
HP:0000280HP:0000280Coarse facial features0FLNA CL E G H2316305620Frontometaphyseal dysplasia305620C0265293OMIM127114723754300017
HP:0000280HP:0000280Coarse facial features0FMR1 CL E G H2332300624Fragile X syndrome300624C0016667OMIM1812813775309550
HP:0000280HP:0000280Coarse facial features0FOXE1 CL E G H230495713ORPHA131483806602617
HP:0000280HP:0000280Coarse facial features0FTO CL E G H79068612938Growth retardation, developmental delay, coarse facies, and early death612938C2752001OMIM11614824678610966
HP:0000280HP:0000280Coarse facial features0FUCA1 CL E G H2517230000Fucosidosis230000C0016788OMIM1341094006612280
HP:0000280HP:0000280Coarse facial features0FUCA1 CL E G H2517349Neuroaxonal dystrophy renal tubular acidosisORPHA1341094006612280
HP:0000280HP:0000280Coarse facial features0GALNS CL E G H2588253000Mucopolysaccharidosis, MPS-IV-A253000C0086651OMIM13443684122612222
HP:0000280HP:0000280Coarse facial features0GJA1 CL E G H2697218400Craniometaphyseal dysplasia, autosomal recessive type218400C2931244OMIM11091414274121014
HP:0000280HP:0000280Coarse facial features0GLA CL E G H2717324Slti Salem syndromeORPHA19667284296300644
HP:0000280HP:0000280Coarse facial features0GLB1 CL E G H2720230500Infantile GM1 gangliosidosis230500C0268271OMIM12313084298611458
HP:0000280HP:0000280Coarse facial features0GLB1 CL E G H2720253010Mucopolysaccharidosis, MPS-IV-B253010C0086652OMIM12313084298611458
HP:0000280HP:0000280Coarse facial features0GNE CL E G H100203166Ladda Zonana Ramer syndromeORPHA122247523657603824
HP:0000280HP:0000280Coarse facial features0GNE CL E G H10020269921Sialuria269921C0342853OMIM122247523657603824
HP:0000280HP:0000280Coarse facial features0GNPTAB CL E G H79158576ORPHA118846229670607840
HP:0000280HP:0000280Coarse facial features0GNPTAB CL E G H79158252500I cell disease252500C2673377OMIM118846229670607840
HP:0000280HP:0000280Coarse facial features0GNPTAB CL E G H79158252600Pseudo-Hurler polydystrophy252600C0033788OMIM118846229670607840
HP:0000280HP:0000280Coarse facial features0GNPTG CL E G H84572252605Mucolipidosis III Gamma252605C1854896OMIM14927123026607838
HP:0000280HP:0000280Coarse facial features0GNS CL E G H2799252940Mucopolysaccharidosis, MPS-III-D252940C0086650OMIM1251464422607664
HP:0000280HP:0000280Coarse facial features0GPC3 CL E G H2719373Quinquaud's decalvans folliculitisORPHA1985264451300037
HP:0000280HP:0000280Coarse facial features0GPC3 CL E G H2719312870Simpson-Golabi-Behmel syndrome312870C0796154OMIM1985264451300037
HP:0000280HP:0000280Coarse facial features0GPC4 CL E G H2239373Quinquaud's decalvans folliculitisORPHA151964452300168
HP:0000280HP:0000280Coarse facial features0GPC4 CL E G H2239312870Simpson-Golabi-Behmel syndrome312870C0796154OMIM151964452300168
HP:0000280HP:0000280Coarse facial features0GPR101 CL E G H83550963ORPHA11819414963300393
HP:0000280HP:0000280Coarse facial features0GPR101 CL E G H83550300942Chromosome Xq26.3 duplication syndrome300942C3891556OMIM11819414963300393
HP:0000280HP:0000280Coarse facial features0GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA111574659601679
HP:0000280HP:0000280Coarse facial features0GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA162064661604318
HP:0000280HP:0000280Coarse facial features0GUSB CL E G H2990584Al Gazali Donnai Mueller syndromeORPHA1661574696611499
HP:0000280HP:0000280Coarse facial features0GUSB CL E G H2990253220Mucopolysaccharidosis type VII253220C0085132OMIM1661574696611499
HP:0000280HP:0000280Coarse facial features0H19 CL E G H283120130650Beckwith-Wiedemann syndrome130650C0004903OMIM138494713103280
HP:0000280HP:0000280Coarse facial features0HESX1 CL E G H8820226307ORPHA127464877601802
HP:0000280HP:0000280Coarse facial features0HEXB CL E G H3074268800Sandhoff disease268800C0036161OMIM11262184879606873
HP:0000280HP:0000280Coarse facial features0HGSNAT CL E G H138050252930Mucopolysaccharidosis, MPS-III-C252930C0086649OMIM17237126527610453
HP:0000280HP:0000280Coarse facial features0HPGD CL E G H32482796Familial hypocalciuric hypercalcemiaC1809471ORPHA1181455154601688
HP:0000280HP:0000280Coarse facial features0HPGD CL E G H3248259100Pachydermoperiostosis syndrome259100C0029411OMIM1181455154601688
HP:0000280HP:0000280Coarse facial features0HRAS CL E G H3265218040Costello syndrome218040C0587248OMIM1342955173190020
HP:0000280HP:0000280Coarse facial features0HUWE1 CL E G H1007585328ORPHA15442930892300697
HP:0000280HP:0000280Coarse facial features0IDS CL E G H3423309900Mucopolysaccharidosis, MPS-II309900C0026705OMIM16404245389300823
HP:0000280HP:0000280Coarse facial features0IDUA CL E G H342593476ORPHA12916225391252800
HP:0000280HP:0000280Coarse facial features0IDUA CL E G H342593474ORPHA12916225391252800
HP:0000280HP:0000280Coarse facial features0IDUA CL E G H342593473ORPHA12916225391252800
HP:0000280HP:0000280Coarse facial features0IDUA CL E G H3425607014Dysostosis multiplex607014C0086795OMIM12916225391252800
HP:0000280HP:0000280Coarse facial features0IGF2 CL E G H3481130650Beckwith-Wiedemann syndrome130650C0004903OMIM111675466147470
HP:0000280HP:0000280Coarse facial features0INSR CL E G H3643769ORPHA11964076091147670
HP:0000280HP:0000280Coarse facial features0INSR CL E G H3643262190Pineal hyperplasia AND diabetes mellitus syndrome262190C0271695OMIM11964076091147670
HP:0000280HP:0000280Coarse facial features0IYD CL E G H38943495716ORPHA154621071612025
HP:0000280HP:0000280Coarse facial features0KAT6B CL E G H2352285201ORPHA17622817582605880
HP:0000280HP:0000280Coarse facial features0KAT6B CL E G H23522606170Genitopatellar syndrome606170C1853566OMIM17622817582605880
HP:0000280HP:0000280Coarse facial features0KCNH1 CL E G H3756135500Zimmermann-Laband syndrome 1135500CN032818OMIM113916250603305
HP:0000280HP:0000280Coarse facial features0KCNJ8 CL E G H37641517ORPHA18876269600935
HP:0000280HP:0000280Coarse facial features0KCNQ1 CL E G H3784130650Beckwith-Wiedemann syndrome130650C0004903OMIM164312436294607542
HP:0000280HP:0000280Coarse facial features0KCNQ1OT1 CL E G H10984130650Beckwith-Wiedemann syndrome130650C0004903OMIM18966295604115
HP:0000280HP:0000280Coarse facial features0KLHL15 CL E G H80311300982Mental retardation, X-linked 103300982C4310818OMIM1417229347300980
HP:0000280HP:0000280Coarse facial features0KRAS CL E G H3845615278Cardiofaciocutaneous syndrome 2615278C3809005OMIM1452746407190070
HP:0000280HP:0000280Coarse facial features0KRAS CL E G H38451340Chromosome 4, monosomy 4qC0265404ORPHA1452746407190070
HP:0000280HP:0000280Coarse facial features0LAMTOR2 CL E G H2895690023ORPHA112529796610389
HP:0000280HP:0000280Coarse facial features0LAMTOR2 CL E G H28956610798Immunodeficiency due to defect in mapbp-interacting protein610798C1835829OMIM112529796610389
HP:0000280HP:0000280Coarse facial features0LHX3 CL E G H8022226307ORPHA1181756595600577
HP:0000280HP:0000280Coarse facial features0LHX4 CL E G H89884226307ORPHA12311621734602146
HP:0000280HP:0000280Coarse facial features0LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA171936613601329
HP:0000280HP:0000280Coarse facial features0MAGEL2 CL E G H54551615547Schaaf-yang syndrome615547C3809877OMIM1204536814605283
HP:0000280HP:0000280Coarse facial features0MAN2B1 CL E G H4125248500Deficiency of alpha-mannosidase248500C0024748OMIM11513936826609458
HP:0000280HP:0000280Coarse facial features0MAP2K1 CL E G H56041340Chromosome 4, monosomy 4qC0265404ORPHA1232136840176872
HP:0000280HP:0000280Coarse facial features0MAP2K2 CL E G H56051340Chromosome 4, monosomy 4qC0265404ORPHA1353386842601263
HP:0000280HP:0000280Coarse facial features0MBD5 CL E G H55777228402ORPHA19166420444611472
HP:0000280HP:0000280Coarse facial features0MCTP2 CL E G H557841596ORPHA1910125636616297
HP:0000280HP:0000280Coarse facial features0MED12 CL E G H9968300895Ohdo syndrome, X-linked300895C3698541OMIM13465011957300188
HP:0000280HP:0000280Coarse facial features0MMP14 CL E G H4323277950Winchester syndrome277950C0432289OMIM110377160600754
HP:0000280HP:0000280Coarse facial features0MMP2 CL E G H4313259600Multicentric osteolysis, nodulosis and arthropathy259600C1850155OMIM1271487166120360
HP:0000280HP:0000280Coarse facial features0MPL CL E G H43523319ORPHA1571877217159530
HP:0000280HP:0000280Coarse facial features0NAA10 CL E G H8260300855N-terminal acetyltransferase deficiency300855C3275447OMIM11029618704300013
HP:0000280HP:0000280Coarse facial features0NAGA CL E G H466879280ORPHA1111307631104170
HP:0000280HP:0000280Coarse facial features0NAGA CL E G H4668609242Kanzaki disease609242C1836522OMIM1111307631104170
HP:0000280HP:0000280Coarse facial features0NAGLU CL E G H4669252920Mucopolysaccharidosis, MPS-III-B252920C0086648OMIM11762847632609701
HP:0000280HP:0000280Coarse facial features0NANS CL E G H54187610442Spondyloepimetaphyseal dysplasia Genevieve type610442C1864872OMIM1126119237605202
HP:0000280HP:0000280Coarse facial features0NEU1 CL E G H4758812ORPHA1641027758608272
HP:0000280HP:0000280Coarse facial features0NEU1 CL E G H4758256550Sialidosis, type II256550C0268226OMIM1641027758608272
HP:0000280HP:0000280Coarse facial features0NKX2-1 CL E G H708095713ORPHA114313611825600635
HP:0000280HP:0000280Coarse facial features0NKX2-5 CL E G H148295712ORPHA11122152488600584
HP:0000280HP:0000280Coarse facial features0NKX2-5 CL E G H148295713ORPHA11122152488600584
HP:0000280HP:0000280Coarse facial features0NOTCH2 CL E G H4853955ORPHA1813947882600275
HP:0000280HP:0000280Coarse facial features0NOTCH2 CL E G H4853102500Hajdu-Cheney syndrome102500C0917715OMIM1813947882600275
HP:0000280HP:0000280Coarse facial features0OFD1 CL E G H8481300209Simpson-Golabi-Behmel syndrome, type 2300209C1846175OMIM11625102567300170
HP:0000280HP:0000280Coarse facial features0PAX8 CL E G H784995712ORPHA1511438622167415
HP:0000280HP:0000280Coarse facial features0PAX8 CL E G H784995713ORPHA1511438622167415
HP:0000280HP:0000280Coarse facial features0PAX8 CL E G H784995720ORPHA1511438622167415
HP:0000280HP:0000280Coarse facial features0PHF6 CL E G H84295127ORPHA12923518145300414
HP:0000280HP:0000280Coarse facial features0PHF6 CL E G H84295301900Borjeson-Forssman-Lehmann syndrome301900C0265339OMIM12923518145300414
HP:0000280HP:0000280Coarse facial features0PIGA CL E G H5277300868Multiple congenital anomalies-hypotonia-seizures syndrome 2300868C3275508OMIM1293208957311770
HP:0000280HP:0000280Coarse facial features0PIGN CL E G H235562059ORPHA1344168967606097
HP:0000280HP:0000280Coarse facial features0PIGN CL E G H23556280633Multiple congenital anomalies-hypotonia-seizures syndromeCN228166ORPHA1344168967606097
HP:0000280HP:0000280Coarse facial features0PIGN CL E G H23556614080Multiple congenital anomalies-hypotonia-seizures syndrome 1614080C3279775OMIM1344168967606097
HP:0000280HP:0000280Coarse facial features0POU1F1 CL E G H5449226307ORPHA146729210173110
HP:0000280HP:0000280Coarse facial features0PROP1 CL E G H5626226307ORPHA1421509455601538
HP:0000280HP:0000280Coarse facial features0PTCH1 CL E G H5727109400Gorlin syndrome109400C0004779OMIM152920319585601309
HP:0000280HP:0000280Coarse facial features0PTCH2 CL E G H8643109400Gorlin syndrome109400C0004779OMIM1112819586603673
HP:0000280HP:0000280Coarse facial features0PUS3 CL E G H83480617051Mental retardation, autosomal recessive 55617051C4310745OMIM1111025461616283
HP:0000280HP:0000280Coarse facial features0RBMX CL E G H27316300238Mental retardation X-linked syndromic 11300238C1846145OMIM111829910300199
HP:0000280HP:0000280Coarse facial features0RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA141739970600404
HP:0000280HP:0000280Coarse facial features0RIN2 CL E G H54453217335ORPHA1415518750610222
HP:0000280HP:0000280Coarse facial features0RIN2 CL E G H54453613075Macrocephaly, alopecia, cutis laxa, and scoliosis613075C2751321OMIM1415518750610222
HP:0000280HP:0000280Coarse facial features0RPS6KA3 CL E G H6197303600Coffin-Lowry syndrome303600C0265252OMIM117130910432300075
HP:0000280HP:0000280Coarse facial features0RPS6KA3 CL E G H6197192Karandikar Maria Kamble syndromeORPHA117130910432300075
HP:0000280HP:0000280Coarse facial features0SETBP1 CL E G H26040269150Schinzel-Giedion syndrome269150C0265227OMIM14721215573611060
HP:0000280HP:0000280Coarse facial features0SGSH CL E G H6448252900Mucopolysaccharidosis, MPS-III-A252900C0086647OMIM114840810818605270
HP:0000280HP:0000280Coarse facial features0SH3PXD2B CL E G H285590137834ORPHA12026629242613293
HP:0000280HP:0000280Coarse facial features0SH3PXD2B CL E G H285590249420Frank Ter Haar syndrome249420C1855305OMIM12026629242613293
HP:0000280HP:0000280Coarse facial features0SLC17A5 CL E G H26503269920Sialic acid storage disease, severe infantile type269920C1096902OMIM15519210933604322
HP:0000280HP:0000280Coarse facial features0SLC26A4 CL E G H517295720ORPHA15645608818605646
HP:0000280HP:0000280Coarse facial features0SLC26A4 CL E G H517295713ORPHA15645608818605646
HP:0000280HP:0000280Coarse facial features0SLC35A2 CL E G H7355300896CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm300896C3806688OMIM11827311022314375
HP:0000280HP:0000280Coarse facial features0SLC5A5 CL E G H652895716ORPHA11813811040601843
HP:0000280HP:0000280Coarse facial features0SLCO2A1 CL E G H65782796Familial hypocalciuric hypercalcemiaC1809471ORPHA1766510955601460
HP:0000280HP:0000280Coarse facial features0SMARCA4 CL E G H65971465ORPHA157247311100603254
HP:0000280HP:0000280Coarse facial features0SMARCA4 CL E G H6597614609Mental retardation, autosomal dominant 16614609C3553249OMIM157247311100603254
HP:0000280HP:0000280Coarse facial features0SMARCB1 CL E G H65981465ORPHA111948211103601607
HP:0000280HP:0000280Coarse facial features0SMARCB1 CL E G H6598614608Mental retardation, autosomal dominant 15614608C3553248OMIM111948211103601607
HP:0000280HP:0000280Coarse facial features0SMARCE1 CL E G H66051465ORPHA11328711109603111
HP:0000280HP:0000280Coarse facial features0SMARCE1 CL E G H6605616938Coffin-Siris syndrome 5616938C4310788OMIM11328711109603111
HP:0000280HP:0000280Coarse facial features0SNX14 CL E G H57231616354Spinocerebellar ataxia, autosomal recessive 20616354C4225355OMIM1196114977616105
HP:0000280HP:0000280Coarse facial features0SOST CL E G H509641513Continuous spike-wave during slow sleep syndromeORPHA1177013771605740
HP:0000280HP:0000280Coarse facial features0SOX11 CL E G H66641465ORPHA1147011191600898
HP:0000280HP:0000280Coarse facial features0STAT3 CL E G H6774147060Hyperimmunoglobulin E syndrome147060C3489795OMIM115529111364102582
HP:0000280HP:0000280Coarse facial features0SUFU CL E G H51684109400Gorlin syndrome109400C0004779OMIM14753316466607035
HP:0000280HP:0000280Coarse facial features0SUMF1 CL E G H285362585ORPHA15526520376607939
HP:0000280HP:0000280Coarse facial features0SUMF1 CL E G H285362272200Multiple sulfatase deficiency272200C0268263OMIM15526520376607939
HP:0000280HP:0000280Coarse facial features0TBC1D24 CL E G H5746579500ORPHA15656429203613577
HP:0000280HP:0000280Coarse facial features0TBC1D24 CL E G H57465220500Digitorenocerebral syndrome220500C1857345OMIM15656429203613577
HP:0000280HP:0000280Coarse facial features0TBC1D7 CL E G H51256248000Macrocephalus248000C2243051OMIM124721066612655
HP:0000280HP:0000280Coarse facial features0TBCK CL E G H93627616900Hypotonia, infantile, with psychomotor retardation and characteristic facies 3616900C4225161OMIM1169628261616899
HP:0000280HP:0000280Coarse facial features0TBL2 CL E G H26608904Blepharophimosis nasal groove growth retardationORPHA115911586605842
HP:0000280HP:0000280Coarse facial features0TCF4 CL E G H69252896Hypogonadism retinitis pigmentosaORPHA114862411634602272
HP:0000280HP:0000280Coarse facial features0TCF4 CL E G H6925610954Pitt-Hopkins syndrome610954C1970431OMIM114862411634602272
HP:0000280HP:0000280Coarse facial features0TG CL E G H703895716ORPHA117242911764188450
HP:0000280HP:0000280Coarse facial features0THRA CL E G H706797927ORPHA1143411796190120
HP:0000280HP:0000280Coarse facial features0THRB CL E G H706897927ORPHA117129511799190160
HP:0000280HP:0000280Coarse facial features0TPO CL E G H717395716ORPHA114725012015606765
HP:0000280HP:0000280Coarse facial features0TRHR CL E G H720199832ORPHA174912299188545
HP:0000280HP:0000280Coarse facial features0TSHB CL E G H725290674ORPHA1142512372188540
HP:0000280HP:0000280Coarse facial features0TSHR CL E G H725395713ORPHA116117812373603372
HP:0000280HP:0000280Coarse facial features0TSHR CL E G H725395720ORPHA116117812373603372
HP:0000280HP:0000280Coarse facial features0VPS33A CL E G H65082617303Mucopolysaccharidosis-plus syndrome617303C4310627OMIM114618179610034
HP:0000280HP:0000280Coarse facial features0WAC CL E G H51322616708Desanto-shinawi syndrome616708C4225239OMIM1257717327615049
HP:0000280HP:0000280Coarse facial features0WDR26 CL E G H80232617616SKRABAN-DEARDORFF SYNDROME617616C4539927OMIM1346921208617424
HP:0000280HP:0000280Coarse facial features0WDR81 CL E G H124997610185Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2610185C2750234OMIM11721126600614218
HP:0000280HP:0000280Coarse facial features0ZNF148 CL E G H7707617260Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies617260C4310644OMIM144212933601897
HP:0000280HP:0000280Coarse facial features1 CL E G H105259599130650Beckwith-Wiedemann syndrome130650C0004903OMIM1280
HP:0000280HP:0000280Coarse facial features1ABCA5 CL E G H234612026Hemoglobin EC0019024ORPHA154935612503
HP:0000280HP:0000280Coarse facial features1ABCC9 CL E G H100601517ORPHA14965860601439
HP:0000280HP:0000280Coarse facial features1ABCC9 CL E G H10060965Brachydactyly dwarfism mental retardationORPHA14965860601439
HP:0000280HP:0000280Coarse facial features1ABCC9 CL E G H10060966Brachydactyly elbow wrist dysplasiaORPHA14965860601439
HP:0000280HP:0000280Coarse facial features1ABCC9 CL E G H10060239850Hypertrichotic osteochondrodysplasia239850C0795905OMIM14965860601439
HP:0000280HP:0000280Coarse facial features1ACER3 CL E G H55331617762LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET617762C4540358OMIM111316066617036
HP:0000280HP:0000280Coarse facial features1ACTB CL E G H602995Infant epilepsy with migrant focal crisisORPHA165224132102630
HP:0000280HP:0000280Coarse facial features1ACTG1 CL E G H712995Infant epilepsy with migrant focal crisisORPHA148261144102560
HP:0000280HP:0000280Coarse facial features1AFF4 CL E G H27125616368Chops syndrome616368C4085597OMIM136617869604417
HP:0000280HP:0000280Coarse facial features1AGA CL E G H17593ORPHA138239318613228
HP:0000280HP:0000280Coarse facial features1AGA CL E G H175208400Aspartylglucosaminuria208400C0268225OMIM138239318613228
HP:0000280HP:0000280Coarse facial features1AIMP1 CL E G H9255260600Leukodystrophy, hypomyelinating 3260600C1850053OMIM153410648603605
HP:0000280HP:0000280Coarse facial features1AIP CL E G H9049963ORPHA1112273358605555
HP:0000280HP:0000280Coarse facial features1AIP CL E G H9049102200Somatotroph adenoma102200C0346302OMIM1112273358605555
HP:0000280HP:0000280Coarse facial features1ANTXR2 CL E G H1184292176Epimetaphyseal skeletal dysplasiaORPHA14820421732608041
HP:0000280HP:0000280Coarse facial features1ANTXR2 CL E G H118429228600Hyaline fibromatosis syndrome228600C2745948OMIM14820421732608041
HP:0000280HP:0000280Coarse facial features1AP1S2 CL E G H890585335ORPHA114204560300629
HP:0000280HP:0000280Coarse facial features1AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM114204560300629
HP:0000280HP:0000280Coarse facial features1AP3B1 CL E G H8546608233Hermansky Pudlak syndrome 2608233C1842362OMIM135238566603401
HP:0000280HP:0000280Coarse facial features1AP4B1 CL E G H10717280763ORPHA121140572607245
HP:0000280HP:0000280Coarse facial features1AP4B1 CL E G H10717614066Spastic paraplegia 47, autosomal recessive614066C3279738OMIM121140572607245
HP:0000280HP:0000280Coarse facial features1AP4E1 CL E G H23431280763ORPHA118178573607244
HP:0000280HP:0000280Coarse facial features1AP4E1 CL E G H23431613744Spastic paraplegia 51, autosomal recessive613744C3151056OMIM118178573607244
HP:0000280HP:0000280Coarse facial features1AP4M1 CL E G H9179280763ORPHA115150574602296
HP:0000280HP:0000280Coarse facial features1AP4M1 CL E G H9179612936Spastic paraplegia 50, autosomal recessive612936C2752008OMIM115150574602296
HP:0000280HP:0000280Coarse facial features1AP4S1 CL E G H11154280763ORPHA1859575607243
HP:0000280HP:0000280Coarse facial features1AP4S1 CL E G H11154614067Spastic paraplegia 52, autosomal recessive614067C3279743OMIM1859575607243
HP:0000280HP:0000280Coarse facial features1ARID1A CL E G H82891465ORPHA13617511110603024
HP:0000280HP:0000280Coarse facial features1ARID1B CL E G H574921465ORPHA118857518040614556
HP:0000280HP:0000280Coarse facial features1ARID1B CL E G H57492135900Coffin-Siris syndrome 1135900C3281201OMIM118857518040614556
HP:0000280HP:0000280Coarse facial features1ARID2 CL E G H1965281465ORPHA11111518037609539
HP:0000280HP:0000280Coarse facial features1ARID2 CL E G H196528617808COFFIN-SIRIS SYNDROME 6617808C4540499OMIM11111518037609539
HP:0000280HP:0000280Coarse facial features1ARSB CL E G H411253200Mucopolysaccharidosis type VI253200C0026709OMIM1207446714611542
HP:0000280HP:0000280Coarse facial features1ARX CL E G H1703022508ORPHA19846618060300382
HP:0000280HP:0000280Coarse facial features1ARX CL E G H170302300004Proud Levine Carpenter syndrome300004C0796124OMIM19846618060300382
HP:0000280HP:0000280Coarse facial features1ATRX CL E G H546309580Mental retardation-hypotonic facies syndrome X-linked, 1309580C0796003OMIM1170663886300032
HP:0000280HP:0000280Coarse facial features1BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA15187961605681
HP:0000280HP:0000280Coarse facial features1BRAF CL E G H673115150Cardiofaciocutaneous syndrome 1115150CN029449OMIM1684901097164757
HP:0000280HP:0000280Coarse facial features1BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA1684901097164757
HP:0000280HP:0000280Coarse facial features1BRCA1 CL E G H672617883FANCONI ANEMIA, COMPLEMENTATION GROUP S617883CN850168OMIM12824114981100113705
HP:0000280HP:0000280Coarse facial features1BSCL2 CL E G H26580363400ORPHA15026315832606158
HP:0000280HP:0000280Coarse facial features1C12orf57 CL E G H1132461777ORPHA1812529521615140
HP:0000280HP:0000280Coarse facial features1CCDC47 CL E G H57003618268618268618268OMIM1520248560
HP:0000280HP:0000280Coarse facial features1CDKN1C CL E G H1028130650Beckwith-Wiedemann syndrome130650C0004903OMIM1814711786600856
HP:0000280HP:0000280Coarse facial features1CEP120 CL E G H153241616300Short-rib thoracic dysplasia 13 with or without polydactyly616300C4225378OMIM198726690613446
HP:0000280HP:0000280Coarse facial features1CHD4 CL E G H1108617159Sifrim-Hitz-Weiss syndrome617159C4310688OMIM1231341919603277
HP:0000280HP:0000280Coarse facial features1CLCN4 CL E G H1183300114Mental retardation 49, X-linked300114C3887959OMIM1183342022302910
HP:0000280HP:0000280Coarse facial features1CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA111742586603432
HP:0000280HP:0000280Coarse facial features1COL2A1 CL E G H1280151210Platyspondylic lethal skeletal dysplasia Torrance type151210C1835437OMIM15707312200120140
HP:0000280HP:0000280Coarse facial features1CTSA CL E G H5476351ORPHA1391199251613111
HP:0000280HP:0000280Coarse facial features1CTSA CL E G H5476256540Combined deficiency of sialidase AND beta galactosidase256540C0268233OMIM1391199251613111
HP:0000280HP:0000280Coarse facial features1CUL4B CL E G H8450300354Syndromic X-linked mental retardation, Cabezas type300354C1845861OMIM1402472555300304
HP:0000280HP:0000280Coarse facial features1DENND5A CL E G H23258617281Epileptic encephalopathy, early infantile, 49617281C4310635OMIM194319344617278
HP:0000280HP:0000280Coarse facial features1DPF2 CL E G H59771465ORPHA19149964601671
HP:0000280HP:0000280Coarse facial features1DPF2 CL E G H5977618027COFFIN-SIRIS SYNDROME 7618027CN248780OMIM19149964601671
HP:0000280HP:0000280Coarse facial features1DUOX2 CL E G H5050695716ORPHA118530613273606759
HP:0000280HP:0000280Coarse facial features1DUOXA2 CL E G H40575395716ORPHA1185432698612772
HP:0000280HP:0000280Coarse facial features1DYM CL E G H54808239ORPHA13712421317607461
HP:0000280HP:0000280Coarse facial features1DYM CL E G H54808223800Dyggve-Melchior-Clausen syndrome223800C0265286OMIM13712421317607461
HP:0000280HP:0000280Coarse facial features1EHMT1 CL E G H79813610253Chromosome 9q deletion syndrome610253C0795833OMIM19474624650607001
HP:0000280HP:0000280Coarse facial features1ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA11275233327130160
HP:0000280HP:0000280Coarse facial features1EXT2 CL E G H2132616682Seizures, scoliosis, and macrocephaly syndrome616682C4225248OMIM12582753513608210
HP:0000280HP:0000280Coarse facial features1EXTL3 CL E G H2137617425Immunoskeletal dysplasia with neurodevelopmental abnormalities617425C4479452OMIM19973518605744
HP:0000280HP:0000280Coarse facial features1FAR1 CL E G H84188616154Peroxisomal fatty acyl-coa reductase 1 disorder616154C4015344OMIM144026222616107
HP:0000280HP:0000280Coarse facial features1FBXO31 CL E G H79791615979Mental retardation, autosomal recessive 45615979C4014864OMIM138216510609102
HP:0000280HP:0000280Coarse facial features1FLNA CL E G H2316305620Frontometaphyseal dysplasia305620C0265293OMIM127114723754300017
HP:0000280HP:0000280Coarse facial features1FMR1 CL E G H2332300624Fragile X syndrome300624C0016667OMIM1812813775309550
HP:0000280HP:0000280Coarse facial features1FOXE1 CL E G H230495713ORPHA131483806602617
HP:0000280HP:0000280Coarse facial features1FTO CL E G H79068612938Growth retardation, developmental delay, coarse facies, and early death612938C2752001OMIM11614824678610966
HP:0000280HP:0000280Coarse facial features1FUCA1 CL E G H2517230000Fucosidosis230000C0016788OMIM1341094006612280
HP:0000280HP:0000280Coarse facial features1FUCA1 CL E G H2517349Neuroaxonal dystrophy renal tubular acidosisORPHA1341094006612280
HP:0000280HP:0000280Coarse facial features1GALNS CL E G H2588253000Mucopolysaccharidosis, MPS-IV-A253000C0086651OMIM13443684122612222
HP:0000280HP:0000280Coarse facial features1GJA1 CL E G H2697218400Craniometaphyseal dysplasia, autosomal recessive type218400C2931244OMIM11091414274121014
HP:0000280HP:0000280Coarse facial features1GLA CL E G H2717324Slti Salem syndromeORPHA19667284296300644
HP:0000280HP:0000280Coarse facial features1GLB1 CL E G H2720230500Infantile GM1 gangliosidosis230500C0268271OMIM12313084298611458
HP:0000280HP:0000280Coarse facial features1GLB1 CL E G H2720253010Mucopolysaccharidosis, MPS-IV-B253010C0086652OMIM12313084298611458
HP:0000280HP:0000280Coarse facial features1GNE CL E G H100203166Ladda Zonana Ramer syndromeORPHA122247523657603824
HP:0000280HP:0000280Coarse facial features1GNE CL E G H10020269921Sialuria269921C0342853OMIM122247523657603824
HP:0000280HP:0000280Coarse facial features1GNPTAB CL E G H79158576ORPHA118846229670607840
HP:0000280HP:0000280Coarse facial features1GNPTAB CL E G H79158252500I cell disease252500C2673377OMIM118846229670607840
HP:0000280HP:0000280Coarse facial features1GNPTAB CL E G H79158252600Pseudo-Hurler polydystrophy252600C0033788OMIM118846229670607840
HP:0000280HP:0000280Coarse facial features1GNPTG CL E G H84572252605Mucolipidosis III Gamma252605C1854896OMIM14927123026607838
HP:0000280HP:0000280Coarse facial features1GNS CL E G H2799252940Mucopolysaccharidosis, MPS-III-D252940C0086650OMIM1251464422607664
HP:0000280HP:0000280Coarse facial features1GPC3 CL E G H2719373Quinquaud's decalvans folliculitisORPHA1985264451300037
HP:0000280HP:0000280Coarse facial features1GPC3 CL E G H2719312870Simpson-Golabi-Behmel syndrome312870C0796154OMIM1985264451300037
HP:0000280HP:0000280Coarse facial features1GPC4 CL E G H2239373Quinquaud's decalvans folliculitisORPHA151964452300168
HP:0000280HP:0000280Coarse facial features1GPC4 CL E G H2239312870Simpson-Golabi-Behmel syndrome312870C0796154OMIM151964452300168
HP:0000280HP:0000280Coarse facial features1GPR101 CL E G H83550963ORPHA11819414963300393
HP:0000280HP:0000280Coarse facial features1GPR101 CL E G H83550300942Chromosome Xq26.3 duplication syndrome300942C3891556OMIM11819414963300393
HP:0000280HP:0000280Coarse facial features1GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA111574659601679
HP:0000280HP:0000280Coarse facial features1GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA162064661604318
HP:0000280HP:0000280Coarse facial features1GUSB CL E G H2990584Al Gazali Donnai Mueller syndromeORPHA1661574696611499
HP:0000280HP:0000280Coarse facial features1GUSB CL E G H2990253220Mucopolysaccharidosis type VII253220C0085132OMIM1661574696611499
HP:0000280HP:0000280Coarse facial features1H19 CL E G H283120130650Beckwith-Wiedemann syndrome130650C0004903OMIM138494713103280
HP:0000280HP:0000280Coarse facial features1HESX1 CL E G H8820226307ORPHA127464877601802
HP:0000280HP:0000280Coarse facial features1HEXB CL E G H3074268800Sandhoff disease268800C0036161OMIM11262184879606873
HP:0000280HP:0000280Coarse facial features1HGSNAT CL E G H138050252930Mucopolysaccharidosis, MPS-III-C252930C0086649OMIM17237126527610453
HP:0000280HP:0000280Coarse facial features1HPGD CL E G H32482796Familial hypocalciuric hypercalcemiaC1809471ORPHA1181455154601688
HP:0000280HP:0000280Coarse facial features1HPGD CL E G H3248259100Pachydermoperiostosis syndrome259100C0029411OMIM1181455154601688
HP:0000280HP:0000280Coarse facial features1HRAS CL E G H3265218040Costello syndrome218040C0587248OMIM1342955173190020
HP:0000280HP:0000280Coarse facial features1HUWE1 CL E G H1007585328ORPHA15442930892300697
HP:0000280HP:0000280Coarse facial features1IDS CL E G H3423309900Mucopolysaccharidosis, MPS-II309900C0026705OMIM16404245389300823
HP:0000280HP:0000280Coarse facial features1IDUA CL E G H342593474ORPHA12916225391252800
HP:0000280HP:0000280Coarse facial features1IDUA CL E G H342593473ORPHA12916225391252800
HP:0000280HP:0000280Coarse facial features1IDUA CL E G H342593476ORPHA12916225391252800
HP:0000280HP:0000280Coarse facial features1IDUA CL E G H3425607014Dysostosis multiplex607014C0086795OMIM12916225391252800
HP:0000280HP:0000280Coarse facial features1IGF2 CL E G H3481130650Beckwith-Wiedemann syndrome130650C0004903OMIM111675466147470
HP:0000280HP:0000280Coarse facial features1INSR CL E G H3643769ORPHA11964076091147670
HP:0000280HP:0000280Coarse facial features1INSR CL E G H3643262190Pineal hyperplasia AND diabetes mellitus syndrome262190C0271695OMIM11964076091147670
HP:0000280HP:0000280Coarse facial features1IYD CL E G H38943495716ORPHA154621071612025
HP:0000280HP:0000280Coarse facial features1KAT6B CL E G H2352285201ORPHA17622817582605880
HP:0000280HP:0000280Coarse facial features1KAT6B CL E G H23522606170Genitopatellar syndrome606170C1853566OMIM17622817582605880
HP:0000280HP:0000280Coarse facial features1KCNH1 CL E G H3756135500Zimmermann-Laband syndrome 1135500CN032818OMIM113916250603305
HP:0000280HP:0000280Coarse facial features1KCNJ8 CL E G H37641517ORPHA18876269600935
HP:0000280HP:0000280Coarse facial features1KCNQ1 CL E G H3784130650Beckwith-Wiedemann syndrome130650C0004903OMIM164312436294607542
HP:0000280HP:0000280Coarse facial features1KCNQ1OT1 CL E G H10984130650Beckwith-Wiedemann syndrome130650C0004903OMIM18966295604115
HP:0000280HP:0000280Coarse facial features1KLHL15 CL E G H80311300982Mental retardation, X-linked 103300982C4310818OMIM1417229347300980
HP:0000280HP:0000280Coarse facial features1KRAS CL E G H3845615278Cardiofaciocutaneous syndrome 2615278C3809005OMIM1452746407190070
HP:0000280HP:0000280Coarse facial features1KRAS CL E G H38451340Chromosome 4, monosomy 4qC0265404ORPHA1452746407190070
HP:0000280HP:0000280Coarse facial features1LAMTOR2 CL E G H2895690023ORPHA112529796610389
HP:0000280HP:0000280Coarse facial features1LAMTOR2 CL E G H28956610798Immunodeficiency due to defect in mapbp-interacting protein610798C1835829OMIM112529796610389
HP:0000280HP:0000280Coarse facial features1LHX3 CL E G H8022226307ORPHA1181756595600577
HP:0000280HP:0000280Coarse facial features1LHX4 CL E G H89884226307ORPHA12311621734602146
HP:0000280HP:0000280Coarse facial features1LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA171936613601329
HP:0000280HP:0000280Coarse facial features1MAGEL2 CL E G H54551615547Schaaf-yang syndrome615547C3809877OMIM1204536814605283
HP:0000280HP:0000280Coarse facial features1MAN2B1 CL E G H4125248500Deficiency of alpha-mannosidase248500C0024748OMIM11513936826609458
HP:0000280HP:0000280Coarse facial features1MAP2K1 CL E G H56041340Chromosome 4, monosomy 4qC0265404ORPHA1232136840176872
HP:0000280HP:0000280Coarse facial features1MAP2K2 CL E G H56051340Chromosome 4, monosomy 4qC0265404ORPHA1353386842601263
HP:0000280HP:0000280Coarse facial features1MBD5 CL E G H55777228402ORPHA19166420444611472
HP:0000280HP:0000280Coarse facial features1MCTP2 CL E G H557841596ORPHA1910125636616297
HP:0000280HP:0000280Coarse facial features1MED12 CL E G H9968300895Ohdo syndrome, X-linked300895C3698541OMIM13465011957300188
HP:0000280HP:0000280Coarse facial features1MMP14 CL E G H4323277950Winchester syndrome277950C0432289OMIM110377160600754
HP:0000280HP:0000280Coarse facial features1MMP2 CL E G H4313259600Multicentric osteolysis, nodulosis and arthropathy259600C1850155OMIM1271487166120360
HP:0000280HP:0000280Coarse facial features1MPL CL E G H43523319ORPHA1571877217159530
HP:0000280HP:0000280Coarse facial features1NAA10 CL E G H8260300855N-terminal acetyltransferase deficiency300855C3275447OMIM11029618704300013
HP:0000280HP:0000280Coarse facial features1NAGA CL E G H466879280ORPHA1111307631104170
HP:0000280HP:0000280Coarse facial features1NAGA CL E G H4668609242Kanzaki disease609242C1836522OMIM1111307631104170
HP:0000280HP:0000280Coarse facial features1NAGLU CL E G H4669252920Mucopolysaccharidosis, MPS-III-B252920C0086648OMIM11762847632609701
HP:0000280HP:0000280Coarse facial features1NANS CL E G H54187610442Spondyloepimetaphyseal dysplasia Genevieve type610442C1864872OMIM1126119237605202
HP:0000280HP:0000280Coarse facial features1NEU1 CL E G H4758812ORPHA1641027758608272
HP:0000280HP:0000280Coarse facial features1NEU1 CL E G H4758256550Sialidosis, type II256550C0268226OMIM1641027758608272
HP:0000280HP:0000280Coarse facial features1NKX2-1 CL E G H708095713ORPHA114313611825600635
HP:0000280HP:0000280Coarse facial features1NKX2-5 CL E G H148295712ORPHA11122152488600584
HP:0000280HP:0000280Coarse facial features1NKX2-5 CL E G H148295713ORPHA11122152488600584
HP:0000280HP:0000280Coarse facial features1NOTCH2 CL E G H4853955ORPHA1813947882600275
HP:0000280HP:0000280Coarse facial features1NOTCH2 CL E G H4853102500Hajdu-Cheney syndrome102500C0917715OMIM1813947882600275
HP:0000280HP:0000280Coarse facial features1OFD1 CL E G H8481300209Simpson-Golabi-Behmel syndrome, type 2300209C1846175OMIM11625102567300170
HP:0000280HP:0000280Coarse facial features1PAX8 CL E G H784995713ORPHA1511438622167415
HP:0000280HP:0000280Coarse facial features1PAX8 CL E G H784995720ORPHA1511438622167415
HP:0000280HP:0000280Coarse facial features1PAX8 CL E G H784995712ORPHA1511438622167415
HP:0000280HP:0000280Coarse facial features1PHF6 CL E G H84295127ORPHA12923518145300414
HP:0000280HP:0000280Coarse facial features1PHF6 CL E G H84295301900Borjeson-Forssman-Lehmann syndrome301900C0265339OMIM12923518145300414
HP:0000280HP:0000280Coarse facial features1PIGA CL E G H5277300868Multiple congenital anomalies-hypotonia-seizures syndrome 2300868C3275508OMIM1293208957311770
HP:0000280HP:0000280Coarse facial features1PIGN CL E G H235562059ORPHA1344168967606097
HP:0000280HP:0000280Coarse facial features1PIGN CL E G H23556280633Multiple congenital anomalies-hypotonia-seizures syndromeCN228166ORPHA1344168967606097
HP:0000280HP:0000280Coarse facial features1PIGN CL E G H23556614080Multiple congenital anomalies-hypotonia-seizures syndrome 1614080C3279775OMIM1344168967606097
HP:0000280HP:0000280Coarse facial features1POU1F1 CL E G H5449226307ORPHA146729210173110
HP:0000280HP:0000280Coarse facial features1PROP1 CL E G H5626226307ORPHA1421509455601538
HP:0000280HP:0000280Coarse facial features1PTCH1 CL E G H5727109400Gorlin syndrome109400C0004779OMIM152920319585601309
HP:0000280HP:0000280Coarse facial features1PTCH2 CL E G H8643109400Gorlin syndrome109400C0004779OMIM1112819586603673
HP:0000280HP:0000280Coarse facial features1PUS3 CL E G H83480617051Mental retardation, autosomal recessive 55617051C4310745OMIM1111025461616283
HP:0000280HP:0000280Coarse facial features1RBMX CL E G H27316300238Mental retardation X-linked syndromic 11300238C1846145OMIM111829910300199
HP:0000280HP:0000280Coarse facial features1RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA141739970600404
HP:0000280HP:0000280Coarse facial features1RIN2 CL E G H54453217335ORPHA1415518750610222
HP:0000280HP:0000280Coarse facial features1RIN2 CL E G H54453613075Macrocephaly, alopecia, cutis laxa, and scoliosis613075C2751321OMIM1415518750610222
HP:0000280HP:0000280Coarse facial features1RPS6KA3 CL E G H6197303600Coffin-Lowry syndrome303600C0265252OMIM117130910432300075
HP:0000280HP:0000280Coarse facial features1RPS6KA3 CL E G H6197192Karandikar Maria Kamble syndromeORPHA117130910432300075
HP:0000280HP:0000280Coarse facial features1SETBP1 CL E G H26040269150Schinzel-Giedion syndrome269150C0265227OMIM14721215573611060
HP:0000280HP:0000280Coarse facial features1SGSH CL E G H6448252900Mucopolysaccharidosis, MPS-III-A252900C0086647OMIM114840810818605270
HP:0000280HP:0000280Coarse facial features1SH3PXD2B CL E G H285590137834ORPHA12026629242613293
HP:0000280HP:0000280Coarse facial features1SH3PXD2B CL E G H285590249420Frank Ter Haar syndrome249420C1855305OMIM12026629242613293
HP:0000280HP:0000280Coarse facial features1SLC17A5 CL E G H26503269920Sialic acid storage disease, severe infantile type269920C1096902OMIM15519210933604322
HP:0000280HP:0000280Coarse facial features1SLC26A4 CL E G H517295713ORPHA15645608818605646
HP:0000280HP:0000280Coarse facial features1SLC26A4 CL E G H517295720ORPHA15645608818605646
HP:0000280HP:0000280Coarse facial features1SLC35A2 CL E G H7355300896CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm300896C3806688OMIM11827311022314375
HP:0000280HP:0000280Coarse facial features1SLC5A5 CL E G H652895716ORPHA11813811040601843
HP:0000280HP:0000280Coarse facial features1SLCO2A1 CL E G H65782796Familial hypocalciuric hypercalcemiaC1809471ORPHA1766510955601460
HP:0000280HP:0000280Coarse facial features1SMARCA4 CL E G H65971465ORPHA157247311100603254
HP:0000280HP:0000280Coarse facial features1SMARCA4 CL E G H6597614609Mental retardation, autosomal dominant 16614609C3553249OMIM157247311100603254
HP:0000280HP:0000280Coarse facial features1SMARCB1 CL E G H65981465ORPHA111948211103601607
HP:0000280HP:0000280Coarse facial features1SMARCB1 CL E G H6598614608Mental retardation, autosomal dominant 15614608C3553248OMIM111948211103601607
HP:0000280HP:0000280Coarse facial features1SMARCE1 CL E G H66051465ORPHA11328711109603111
HP:0000280HP:0000280Coarse facial features1SMARCE1 CL E G H6605616938Coffin-Siris syndrome 5616938C4310788OMIM11328711109603111
HP:0000280HP:0000280Coarse facial features1SNX14 CL E G H57231616354Spinocerebellar ataxia, autosomal recessive 20616354C4225355OMIM1196114977616105
HP:0000280HP:0000280Coarse facial features1SOST CL E G H509641513Continuous spike-wave during slow sleep syndromeORPHA1177013771605740
HP:0000280HP:0000280Coarse facial features1SOX11 CL E G H66641465ORPHA1147011191600898
HP:0000280HP:0000280Coarse facial features1STAT3 CL E G H6774147060Hyperimmunoglobulin E syndrome147060C3489795OMIM115529111364102582
HP:0000280HP:0000280Coarse facial features1SUFU CL E G H51684109400Gorlin syndrome109400C0004779OMIM14753316466607035
HP:0000280HP:0000280Coarse facial features1SUMF1 CL E G H285362585ORPHA15526520376607939
HP:0000280HP:0000280Coarse facial features1SUMF1 CL E G H285362272200Multiple sulfatase deficiency272200C0268263OMIM15526520376607939
HP:0000280HP:0000280Coarse facial features1TBC1D24 CL E G H5746579500ORPHA15656429203613577
HP:0000280HP:0000280Coarse facial features1TBC1D24 CL E G H57465220500Digitorenocerebral syndrome220500C1857345OMIM15656429203613577
HP:0000280HP:0000280Coarse facial features1TBC1D7 CL E G H51256248000Macrocephalus248000C2243051OMIM124721066612655
HP:0000280HP:0000280Coarse facial features1TBCK CL E G H93627616900Hypotonia, infantile, with psychomotor retardation and characteristic facies 3616900C4225161OMIM1169628261616899
HP:0000280HP:0000280Coarse facial features1TBL2 CL E G H26608904Blepharophimosis nasal groove growth retardationORPHA115911586605842
HP:0000280HP:0000280Coarse facial features1TCF4 CL E G H69252896Hypogonadism retinitis pigmentosaORPHA114862411634602272
HP:0000280HP:0000280Coarse facial features1TCF4 CL E G H6925610954Pitt-Hopkins syndrome610954C1970431OMIM114862411634602272
HP:0000280HP:0000280Coarse facial features1TG CL E G H703895716ORPHA117242911764188450
HP:0000280HP:0000280Coarse facial features1THRA CL E G H706797927ORPHA1143411796190120
HP:0000280HP:0000280Coarse facial features1THRB CL E G H706897927ORPHA117129511799190160
HP:0000280HP:0000280Coarse facial features1TPO CL E G H717395716ORPHA114725012015606765
HP:0000280HP:0000280Coarse facial features1TRHR CL E G H720199832ORPHA174912299188545
HP:0000280HP:0000280Coarse facial features1TSHB CL E G H725290674ORPHA1142512372188540
HP:0000280HP:0000280Coarse facial features1TSHR CL E G H725395713ORPHA116117812373603372
HP:0000280HP:0000280Coarse facial features1TSHR CL E G H725395720ORPHA116117812373603372
HP:0000280HP:0000280Coarse facial features1VPS33A CL E G H65082617303Mucopolysaccharidosis-plus syndrome617303C4310627OMIM114618179610034
HP:0000280HP:0000280Coarse facial features1WAC CL E G H51322616708Desanto-shinawi syndrome616708C4225239OMIM1257717327615049
HP:0000280HP:0000280Coarse facial features1WDR26 CL E G H80232617616SKRABAN-DEARDORFF SYNDROME617616C4539927OMIM1346921208617424
HP:0000280HP:0000280Coarse facial features1WDR81 CL E G H124997610185Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2610185C2750234OMIM11721126600614218
HP:0000280HP:0000280Coarse facial features1ZNF148 CL E G H7707617260Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies617260C4310644OMIM144212933601897
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000280HP:0000280Coarse facial features0ADNP CL E G H23394615873Helsmoortel-van der aa syndrome615873C4014538OMIM06817915766611386
HP:0000280HP:0000280Coarse facial features0APC2 CL E G H10297821ORPHA0315624036612034
HP:0000280HP:0000280Coarse facial features0ARID1A CL E G H8289614607Mental retardation, autosomal dominant 14614607C3553247OMIM03617511110603024
HP:0000280HP:0000280Coarse facial features0HRAS CL E G H32653071ORPHA0342955173190020
HP:0000280HP:0000280Coarse facial features0L1CAM CL E G H38972182ORPHA02935196470308840
HP:0000280HP:0000280Coarse facial features0MCOLN1 CL E G H57192578Akesson syndromeORPHA03622813356605248
HP:0000280HP:0000280Coarse facial features0NAA10 CL E G H8260276432ORPHA01029618704300013
HP:0000280HP:0000280Coarse facial features0NSD1 CL E G H64324821ORPHA052589614234606681
HP:0000280HP:0000280Coarse facial features0PIGS CL E G H94005618143GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18618143OMIM052014937610271
HP:0000280HP:0000280Coarse facial features0SETBP1 CL E G H26040798ORPHA04721215573611060
HP:0000280HP:0000280Coarse facial features0SETD2 CL E G H29072821ORPHA01943318420612778
HP:0000280HP:0000280Coarse facial features0SLC35C1 CL E G H55343266265Congenital disorder of glycosylation type 2C266265C0398739OMIM0716320197605881
HP:0000280HP:0000280Coarse facial features1ADNP CL E G H23394615873Helsmoortel-van der aa syndrome615873C4014538OMIM06817915766611386
HP:0000280HP:0000280Coarse facial features1APC2 CL E G H10297821ORPHA0315624036612034
HP:0000280HP:0000280Coarse facial features1ARID1A CL E G H8289614607Mental retardation, autosomal dominant 14614607C3553247OMIM03617511110603024
HP:0000280HP:0000280Coarse facial features1HRAS CL E G H32653071ORPHA0342955173190020
HP:0000280HP:0000280Coarse facial features1L1CAM CL E G H38972182ORPHA02935196470308840
HP:0000280HP:0000280Coarse facial features1MCOLN1 CL E G H57192578Akesson syndromeORPHA03622813356605248
HP:0000280HP:0000280Coarse facial features1NAA10 CL E G H8260276432ORPHA01029618704300013
HP:0000280HP:0000280Coarse facial features1NSD1 CL E G H64324821ORPHA052589614234606681
HP:0000280HP:0000280Coarse facial features1PIGS CL E G H94005618143GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18618143OMIM052014937610271
HP:0000280HP:0000280Coarse facial features1SETBP1 CL E G H26040798ORPHA04721215573611060
HP:0000280HP:0000280Coarse facial features1SETD2 CL E G H29072821ORPHA01943318420612778
HP:0000280HP:0000280Coarse facial features1SLC35C1 CL E G H55343266265Congenital disorder of glycosylation type 2C266265C0398739OMIM0716320197605881


Genes (166) :ABCA5 ABCC9 ACER3 ACTB ACTG1 ADNP AFF4 AGA AIMP1 AIP ANTXR2 AP1S2 AP3B1 AP4B1 AP4E1 AP4M1 AP4S1 APC2 ARID1A ARID1B ARID2 ARSB ARX ATRX BAZ1B BRAF BRCA1 BSCL2 C12ORF57 C12orf57 CCDC47 CDKN1C CEP120 CHD4 CLCN4 CLIP2 COL2A1 CTSA CUL4B DENND5A DPF2 DUOX2 DUOXA2 DYM EHMT1 ELN EXT2 EXTL3 FAR1 FBXO31 FHL1 FLNA FMR1 FOXE1 FTO FUCA1 GALNS GJA1 GLA GLB1 GNE GNPTAB GNPTG GNS GPC3 GPC4 GPR101 GTF2I GTF2IRD1 GUSB H19 H19-ICR HESX1 HEXB HGSNAT HPGD HRAS HUWE1 IDS IDUA IGF2 INSR IYD KAT6B KCNH1 KCNJ8 KCNQ1 KCNQ1OT1 KLHL15 KRAS L1CAM LAMTOR2 LHX3 LHX4 LIMK1 MAGEL2 MAN2B1 MAP2K1 MAP2K2 MBD5 MCOLN1 MCTP2 MED12 MMP14 MMP2 MPL NAA10 NAGA NAGLU NANS NEU1 NKX2-1 NKX2-5 NOTCH2 NSD1 OFD1 PAX8 PHF6 PIGA PIGN PIGS POU1F1 PROP1 PTCH1 PTCH2 PUS3 RBMX RFC2 RIN2 RPS6KA3 SETBP1 SETD2 SGSH SH3PXD2B SLC17A5 SLC26A4 SLC35A2 SLC35C1 SLC5A5 SLCO2A1 SMARCA4 SMARCB1 SMARCE1 SNX14 SOST SOX11 STAT3 SUFU SUMF1 TBC1D24 TBC1D7 TBCK TBL2 TCF4 TG THRA THRB TPO TRHR TSHB TSHR VPS33A WAC WDR26 WDR81 ZNF148

Diseases (172) :2026 1517 965 966 239850 617762 2995 615873 616368 93 208400 260600 963 102200 2176 228600 85335 304340 608233 280763 614066 613744 612936 614067 821 1465 614607 135900 617808 253200 2508 300004 309580 904 115150 1340 617883 363400 1777 618268 130650 616300 617159 300114 151210 351 256540 300354 617281 618027 95716 239 223800 610253 616682 617425 616154 615979 305620 300624 95713 612938 230000 349 253000 218400 324 230500 253010 3166 269921 576 252500 252600 252605 252940 373 312870 300942 584 253220 226307 268800 252930 2796 259100 3071 218040 85328 309900 93474 93473 93476 607014 769 262190 85201 606170 135500 300982 615278 2182 90023 610798 615547 248500 228402 578 1596 300895 277950 259600 3319 276432 300855 79280 609242 252920 610442 812 256550 95712 955 102500 300209 95720 127 301900 300868 2059 280633 614080 618143 109400 617051 300238 217335 613075 303600 192 798 269150 252900 137834 249420 269920 300896 266265 614609 614608 616938 616354 1513 147060 585 272200 79500 220500 248000 616900 2896 610954 97927 99832 90674 617303 616708 617616 610185 617260 271700 300280
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is June 2019 release.