Human Phenotype Ontology 
Grandparent Node:
expand
Abnormality of the outer ear (HP:0000356)help
Parent Node:
expand
Abnormality of the pinna (HP:0000377)help
..Starting node
..expand
Macrotia (HP:0000400)help
Term ID: 400
Name: Macrotia
Synonym: Large ears; Large pinnae
Definition: Median longitudinal ear length greater than two standard deviations above the mean and median ear width greater than two standard deviations above the mean (objective); or, apparent increase in length and width of the pinna (subjective).
Comments:
Reference: HP:0000400
Genes and Diseases:
 
       Child Nodes:
........expandLarge fleshy ears (HP:0002265) help

 Sister Nodes: 
..expandAbnormal number of tubercles (HP:0040112) help
..expandAbnormality of earlobe (HP:0000363) help
..expandAbnormality of the antihelix (HP:0009738) help
..expandAbnormality of the antitragus (HP:0009896) help
..expandAbnormality of the helix (HP:0011039) help
..expandAbnormality of the tragus (HP:0009912) help
..expandAsymmetry of the ears (HP:0010722) help
..expandAuricular pit (HP:0030025) help
..expandAuricular tag (HP:0030021) help
..expandCalcification of the auricular cartilage (HP:0005103) help
..expandChondritis of pinna (HP:0200047) help
..expandCrumpled ear (HP:0009901) help
..expandCryptotia (HP:0011252) help
..expandCupped ear (HP:0000378) help
..expandCystic lesions of the pinnae (HP:0010723) help
..expandHypoplasia of the ear cartilage (HP:0100720) help
..expandLong ear (HP:0400004) help
..expandLop ear (HP:0000394) help
..expandMicrotia (HP:0008551) help
..expandMozart ear (HP:0030677) help
..expandProtruding ear (HP:0000411) help
..expandQuelprud nodule (HP:0030023) help
..expandQuestion mark ear (HP:0030022) help
..expandRound ear (HP:0100830) help
..expandSatyr ear (HP:0030676) help
..expandShort ear (HP:0400005) help
..expandThickened ears (HP:0009894) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0000400HP:0000400Macrotia0ADAMTSL1 CL E G H92949521445ORPHA1310814632609198
HP:0000400HP:0000400Macrotia0AGPAT2 CL E G H10555608594Congenital generalized lipodystrophy type 1608594C1720862OMIM143189325603100
HP:0000400HP:0000400Macrotia0AIP CL E G H9049963ORPHA1112273358605555
HP:0000400HP:0000400Macrotia0AKT1 CL E G H207744Aortic valves stenosis of the childORPHA112269391164730
HP:0000400HP:0000400Macrotia0ALDH18A1 CL E G H5832219150Cutis laxa-corneal clouding-oligophrenia syndrome219150C0268354OMIM1332529722138250
HP:0000400HP:0000400Macrotia0ALG3 CL E G H10195601110Congenital disorder of glycosylation type 1D601110C1832736OMIM11912323056608750
HP:0000400HP:0000400Macrotia0ANKRD11 CL E G H291232332ORPHA113472121316611192
HP:0000400HP:0000400Macrotia0ANKRD11 CL E G H29123148050KBG syndrome148050C0220687OMIM113472121316611192
HP:0000400HP:0000400Macrotia0AP1S2 CL E G H890585335ORPHA114204560300629
HP:0000400HP:0000400Macrotia0AP3D1 CL E G H8943617050Hermansky-Pudlak syndrome 10617050C4310746OMIM1490568607246
HP:0000400HP:0000400Macrotia0APC2 CL E G H10297821ORPHA1315624036612034
HP:0000400HP:0000400Macrotia0ASNS CL E G H440615574Asparagine synthetase deficiency615574C3809971OMIM12798753108370
HP:0000400HP:0000400Macrotia0ATP6V1A CL E G H523617403CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID617403C4479409OMIM1947851607027
HP:0000400HP:0000400Macrotia0BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA15187961605681
HP:0000400HP:0000400Macrotia0BMP4 CL E G H652607932Microphthalmia syndromic 6607932C1864689OMIM148891071112262
HP:0000400HP:0000400Macrotia0BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA1684901097164757
HP:0000400HP:0000400Macrotia0BRWD3 CL E G H254065300659Mental retardation, X-linked 93300659C1970841OMIM11834317342300553
HP:0000400HP:0000400Macrotia0BSCL2 CL E G H26580269700Congenital generalized lipodystrophy type 2269700C1720863OMIM15026315832606158
HP:0000400HP:0000400Macrotia0CASK CL E G H8573163937ORPHA11194461497300172
HP:0000400HP:0000400Macrotia0CASK CL E G H8573300749Mental retardation and microcephaly with pontine and cerebellar hypoplasia300749C2677903OMIM11194461497300172
HP:0000400HP:0000400Macrotia0CBL CL E G H867613563Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia613563C3150803OMIM1436101541165360
HP:0000400HP:0000400Macrotia0CEP120 CL E G H153241616300Short-rib thoracic dysplasia 13 with or without polydactyly616300C4225378OMIM198726690613446
HP:0000400HP:0000400Macrotia0CHRNA1 CL E G H1134608930Congenital myasthenic syndrome 1B, fast-channel608930C1837122OMIM1362361955100690
HP:0000400HP:0000400Macrotia0CIT CL E G H11113617090Microcephaly 17, primary, autosomal recessive617090C4310723OMIM1151131985605629
HP:0000400HP:0000400Macrotia0CLIC2 CL E G H1193300886Mental retardation, X-linked, syndromic 32300886C3550913OMIM132402063300138
HP:0000400HP:0000400Macrotia0CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA111742586603432
HP:0000400HP:0000400Macrotia0CTU2 CL E G H348180618142MICROCEPHALY, FACIAL DYSMORPHISM, RENAL AGENESIS, AND AMBIGUOUS GENITALIA SYNDROME618142OMIM1410328005617057
HP:0000400HP:0000400Macrotia0CWC27 CL E G H10283250410Retinitis pigmentosa with or without skeletal anomalies250410C1855188OMIM175310664617170
HP:0000400HP:0000400Macrotia0CXorf56 CL E G H63932301013MENTAL RETARDATION, X-LINKED 107301013CN244560OMIM1116626239301012
HP:0000400HP:0000400Macrotia0DPF2 CL E G H5977618027COFFIN-SIRIS SYNDROME 7618027CN248780OMIM19149964601671
HP:0000400HP:0000400Macrotia0DZIP1L CL E G H199221731ORPHA153426551617570
HP:0000400HP:0000400Macrotia0EED CL E G H87263447ORPHA19493188605984
HP:0000400HP:0000400Macrotia0EED CL E G H8726617561Cohen-Gibson syndrome617561C4479654OMIM19493188605984
HP:0000400HP:0000400Macrotia0ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA11275233327130160
HP:0000400HP:0000400Macrotia0EYA1 CL E G H21382792Hyperbilirubinemia type 1ORPHA12212903519601653
HP:0000400HP:0000400Macrotia0EZH2 CL E G H21463447ORPHA1422353527601573
HP:0000400HP:0000400Macrotia0EZH2 CL E G H2146277590Weaver syndrome277590C0265210OMIM1422353527601573
HP:0000400HP:0000400Macrotia0FAR1 CL E G H84188616154Peroxisomal fatty acyl-coa reductase 1 disorder616154C4015344OMIM144026222616107
HP:0000400HP:0000400Macrotia0FGFR2 CL E G H22631555ORPHA11593363689176943
HP:0000400HP:0000400Macrotia0FIBP CL E G H9158617107Thauvin-Robinet-Faivre syndrome617107C4310715OMIM12293705608296
HP:0000400HP:0000400Macrotia0FLNA CL E G H2316309350Melnick-Needles syndrome309350C0025237OMIM127114723754300017
HP:0000400HP:0000400Macrotia0FMR1 CL E G H2332300624Fragile X syndrome300624C0016667OMIM1812813775309550
HP:0000400HP:0000400Macrotia0FTSJ1 CL E G H24140309549Mental retardation 9, X-linked309549C0796215OMIM11020613254300499
HP:0000400HP:0000400Macrotia0GLI2 CL E G H2736610829Holoprosencephaly 9610829C1835819OMIM1883724318165230
HP:0000400HP:0000400Macrotia0GPR101 CL E G H83550963ORPHA11819414963300393
HP:0000400HP:0000400Macrotia0GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA111574659601679
HP:0000400HP:0000400Macrotia0GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA162064661604318
HP:0000400HP:0000400Macrotia0HECW2 CL E G H57520617268Neurodevelopmental disorder with hypotonia, seizures, and absent language617268C4310643OMIM11014029853617245
HP:0000400HP:0000400Macrotia0HERC1 CL E G H8925617011Macrocephaly, dysmorphic facies, and psychomotor retardation617011C4310766OMIM191734867605109
HP:0000400HP:0000400Macrotia0HHAT CL E G H557331422Cohen Hayden syndromeORPHA144818270605743
HP:0000400HP:0000400Macrotia0INSR CL E G H3643508Acroosteolysis dominant typeORPHA11964076091147670
HP:0000400HP:0000400Macrotia0INSR CL E G H3643246200Leprechaunism syndrome246200C0265344OMIM11964076091147670
HP:0000400HP:0000400Macrotia0ITGA3 CL E G H3675614748Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital614748C3553636OMIM111606139605025
HP:0000400HP:0000400Macrotia0JAG1 CL E G H182118450Alagille syndrome 1118450C1956125OMIM16206456188601920
HP:0000400HP:0000400Macrotia0KANSL1 CL E G H284058610443Koolen-de Vries syndrome610443C1864871OMIM17284024565612452
HP:0000400HP:0000400Macrotia0KCNJ1 CL E G H3758241200Bartter syndrome, type 2, antenatal241200C1855849OMIM1701766255600359
HP:0000400HP:0000400Macrotia0KDM5C CL E G H8242300534Mental retardation, syndromic, Claes-Jensen type, X-linked300534C1845243OMIM15632711114314690
HP:0000400HP:0000400Macrotia0KDM6A CL E G H74032322ORPHA18131112637300128
HP:0000400HP:0000400Macrotia0KDM6A CL E G H7403147920Kabuki syndrome 1147920CN030661OMIM18131112637300128
HP:0000400HP:0000400Macrotia0KIF1A CL E G H5472836ORPHA1431059888601255
HP:0000400HP:0000400Macrotia0KMT2D CL E G H80852322ORPHA171213507133602113
HP:0000400HP:0000400Macrotia0KMT2D CL E G H8085147920Kabuki syndrome 1147920CN030661OMIM171213507133602113
HP:0000400HP:0000400Macrotia0KRAS CL E G H38451340Chromosome 4, monosomy 4qC0265404ORPHA1452746407190070
HP:0000400HP:0000400Macrotia0LAGE3 CL E G H82702065ORPHA1321926058300060
HP:0000400HP:0000400Macrotia0LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA171936613601329
HP:0000400HP:0000400Macrotia0LMNA CL E G H4000740Aortic arch interruptionORPHA157411526636150330
HP:0000400HP:0000400Macrotia0MAN2B1 CL E G H4125248500Deficiency of alpha-mannosidase248500C0024748OMIM11513936826609458
HP:0000400HP:0000400Macrotia0MAP2K1 CL E G H56041340Chromosome 4, monosomy 4qC0265404ORPHA1232136840176872
HP:0000400HP:0000400Macrotia0MAP2K2 CL E G H56051340Chromosome 4, monosomy 4qC0265404ORPHA1353386842601263
HP:0000400HP:0000400Macrotia0MECP2 CL E G H4204300260MECP2 duplication syndrome300260C1846058OMIM1105014426990300005
HP:0000400HP:0000400Macrotia0MECP2 CL E G H4204300055Mental retardation, X-linked, syndromic 13300055C1968550OMIM1105014426990300005
HP:0000400HP:0000400Macrotia0MED13L CL E G H23389616789Mental retardation and distinctive facial features with or without cardiac defects616789C4225208OMIM18135022962608771
HP:0000400HP:0000400Macrotia0MGAT2 CL E G H4247212066Carbohydrate-deficient glycoprotein syndrome type II212066C2931008OMIM151077045602616
HP:0000400HP:0000400Macrotia0MGP CL E G H4256245150Keutel syndrome245150C1855607OMIM112817060154870
HP:0000400HP:0000400Macrotia0MMACHC CL E G H25974277400Methylmalonic acidemia with homocystinuria277400C1848561OMIM19527424525609831
HP:0000400HP:0000400Macrotia0MPLKIP CL E G H136647234050Trichothiodystrophy, nonphotosensitive 1234050C1961117OMIM1195016002609188
HP:0000400HP:0000400Macrotia0NAA10 CL E G H8260300855N-terminal acetyltransferase deficiency300855C3275447OMIM11029618704300013
HP:0000400HP:0000400Macrotia0NALCN CL E G H259232615419Hypotonia, infantile, with psychomotor retardation and characteristic facies 1615419C3809454OMIM16524719082611549
HP:0000400HP:0000400Macrotia0NBN CL E G H4683647ORPHA114820457652602667
HP:0000400HP:0000400Macrotia0NBN CL E G H4683251260Microcephaly, normal intelligence and immunodeficiency251260C0398791OMIM114820457652602667
HP:0000400HP:0000400Macrotia0NDE1 CL E G H54820605013Microhydranencephaly605013C1857977OMIM120116117619609449
HP:0000400HP:0000400Macrotia0NDP CL E G H4693649ORPHA11672077678300658
HP:0000400HP:0000400Macrotia0NECTIN1 CL E G H58183253Limb dystoniaORPHA1151959706600644
HP:0000400HP:0000400Macrotia0NHS CL E G H4810302350Nance-Horan syndrome302350C0796085OMIM1523537820300457
HP:0000400HP:0000400Macrotia0NSD1 CL E G H64324821ORPHA152589614234606681
HP:0000400HP:0000400Macrotia0NSD1 CL E G H643243447ORPHA152589614234606681
HP:0000400HP:0000400Macrotia0NUP107 CL E G H571222065ORPHA1124029914607617
HP:0000400HP:0000400Macrotia0OPHN1 CL E G H4983300486Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance300486C1845366OMIM1432458148300127
HP:0000400HP:0000400Macrotia0OSGEP CL E G H556442065ORPHA1174618028610107
HP:0000400HP:0000400Macrotia0OTUD6B CL E G H51633505237ORPHA164724281612021
HP:0000400HP:0000400Macrotia0OTUD6B CL E G H51633617452Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies617452C4479520OMIM164724281612021
HP:0000400HP:0000400Macrotia0PACS1 CL E G H55690615009Schuurs-hoeijmakers syndrome615009C3554343OMIM129130032607492
HP:0000400HP:0000400Macrotia0PAK3 CL E G H5063300558Mental retardation 30, X-linked300558C0796237OMIM1142288592300142
HP:0000400HP:0000400Macrotia0PAX1 CL E G H50752792Hyperbilirubinemia type 1ORPHA110528615167411
HP:0000400HP:0000400Macrotia0PCLO CL E G H27445608027Pontocerebellar hypoplasia type 3608027C1842687OMIM1612013406604918
HP:0000400HP:0000400Macrotia0PGAP1 CL E G H80055615802Mental retardation, autosomal recessive 42615802C4014343OMIM11210525712611655
HP:0000400HP:0000400Macrotia0PHF6 CL E G H84295301900Borjeson-Forssman-Lehmann syndrome301900C0265339OMIM12923518145300414
HP:0000400HP:0000400Macrotia0PHGDH CL E G H262272671Herrmann Opitz craniosynostosisORPHA1231458923606879
HP:0000400HP:0000400Macrotia0PHGDH CL E G H26227256520Neu-Laxova syndrome 1256520CN032230OMIM1231458923606879
HP:0000400HP:0000400Macrotia0PHIP CL E G H55023617991DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES617991CN248510OMIM1297815673612870
HP:0000400HP:0000400Macrotia0PIEZO2 CL E G H638951154Cataract mental retardation hypogonadismORPHA13232926270613629
HP:0000400HP:0000400Macrotia0PIK3R1 CL E G H5295269880SHORT syndrome269880C0878684OMIM1291568979171833
HP:0000400HP:0000400Macrotia0PKHD1 CL E G H5314731ORPHA156516309016606702
HP:0000400HP:0000400Macrotia0PMM2 CL E G H5373212065Carbohydrate-deficient glycoprotein syndrome type I212065C0349653OMIM11293639115601785
HP:0000400HP:0000400Macrotia0POLR1A CL E G H25885616462Acrofacial dysostosis, Cincinnati type616462C4225317OMIM159317264616404
HP:0000400HP:0000400Macrotia0PPP1CB CL E G H55002701Noonan syndrome-like disorder with loose anagen hairC3501846ORPHA112409282600590
HP:0000400HP:0000400Macrotia0PQBP1 CL E G H10084309500Renpenning syndrome 1309500C0796135OMIM1222289330300463
HP:0000400HP:0000400Macrotia0PRDX1 CL E G H5052277400Methylmalonic acidemia with homocystinuria277400C1848561OMIM13229352176763
HP:0000400HP:0000400Macrotia0PRUNE1 CL E G H58497617481Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies617481C4479566OMIM1102713420617413
HP:0000400HP:0000400Macrotia0PSAT1 CL E G H299682671Herrmann Opitz craniosynostosisORPHA11032319129610936
HP:0000400HP:0000400Macrotia0PSMB8 CL E G H5696256040Nakajo syndrome256040C1850568OMIM111869545177046
HP:0000400HP:0000400Macrotia0PTCH1 CL E G H5727610828Holoprosencephaly 7610828C1835820OMIM152920319585601309
HP:0000400HP:0000400Macrotia0PTDSS1 CL E G H97912658ORPHA17609587612792
HP:0000400HP:0000400Macrotia0PTDSS1 CL E G H9791151050Lenz-Majewski hyperostosis syndrome151050C0432269OMIM17609587612792
HP:0000400HP:0000400Macrotia0PTEN CL E G H5728744Aortic valves stenosis of the childORPHA165820199588601728
HP:0000400HP:0000400Macrotia0RAB18 CL E G H229312510ORPHA1515414244602207
HP:0000400HP:0000400Macrotia0RAB18 CL E G H22931614222Warburg micro syndrome 3614222C3280203OMIM1515414244602207
HP:0000400HP:0000400Macrotia0RAB3GAP1 CL E G H229302510ORPHA16719317063602536
HP:0000400HP:0000400Macrotia0RAB3GAP1 CL E G H22930600118Warburg micro syndrome 1600118C1838625OMIM16719317063602536
HP:0000400HP:0000400Macrotia0RAB3GAP2 CL E G H257822510ORPHA11629417168609275
HP:0000400HP:0000400Macrotia0RAB3GAP2 CL E G H25782614225Warburg micro syndrome 2614225C3280214OMIM11629417168609275
HP:0000400HP:0000400Macrotia0RAP1A CL E G H59062322ORPHA12209855179520
HP:0000400HP:0000400Macrotia0RAP1B CL E G H59082322ORPHA11199857179530
HP:0000400HP:0000400Macrotia0RBMX CL E G H27316300238Mental retardation X-linked syndromic 11300238C1846145OMIM111829910300199
HP:0000400HP:0000400Macrotia0RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA141739970600404
HP:0000400HP:0000400Macrotia0SALL1 CL E G H6299107480Townes-Brocks syndrome 1107480CN034849OMIM18818210524602218
HP:0000400HP:0000400Macrotia0SET CL E G H6418618106MENTAL RETARDATION, AUTOSOMAL DOMINANT 58618106CN253713OMIM177210760600960
HP:0000400HP:0000400Macrotia0SETD2 CL E G H29072821ORPHA11943318420612778
HP:0000400HP:0000400Macrotia0SHANK3 CL E G H8535848652ORPHA119436614294606230
HP:0000400HP:0000400Macrotia0SHANK3 CL E G H8535860623222q13.3 deletion syndrome606232C1853490OMIM119436614294606230
HP:0000400HP:0000400Macrotia0SHOC2 CL E G H80362701Noonan syndrome-like disorder with loose anagen hairC3501846ORPHA1418415454602775
HP:0000400HP:0000400Macrotia0SIM1 CL E G H6492171829ORPHA15311610882603128
HP:0000400HP:0000400Macrotia0SIN3A CL E G H2594294065ORPHA11611619353607776
HP:0000400HP:0000400Macrotia0SIN3A CL E G H25942613406Witteveen-kolk syndrome613406C3150674OMIM11611619353607776
HP:0000400HP:0000400Macrotia0SLC12A6 CL E G H9990218000Andermann syndrome218000C0795950OMIM12038710914604878
HP:0000400HP:0000400Macrotia0SLC16A2 CL E G H656759ORPHA18825710923300095
HP:0000400HP:0000400Macrotia0SLC16A2 CL E G H6567300523Allan-Herndon-Dudley syndrome300523C0795889OMIM18825710923300095
HP:0000400HP:0000400Macrotia0SLC2A10 CL E G H810313342ORPHA13533913444606145
HP:0000400HP:0000400Macrotia0SLC6A17 CL E G H388662616269Mental retardation, autosomal recessive 48616269C4225395OMIM134031399610299
HP:0000400HP:0000400Macrotia0SLC9A6 CL E G H1047985278ORPHA12835111079300231
HP:0000400HP:0000400Macrotia0SLC9A6 CL E G H10479300243Christianson syndrome300243C2678194OMIM12835111079300231
HP:0000400HP:0000400Macrotia0SSR4 CL E G H6748370927ORPHA1725011326300090
HP:0000400HP:0000400Macrotia0SSR4 CL E G H6748300934Congenital disorder of glycosylation type 1y300934C4012395OMIM1725011326300090
HP:0000400HP:0000400Macrotia0SUZ12 CL E G H235123447ORPHA137217101606245
HP:0000400HP:0000400Macrotia0TAF1 CL E G H6872300966Mental retardation, X-linked, syndromic 33300966C4225418OMIM11724011535313650
HP:0000400HP:0000400Macrotia0TAZ CL E G H69013020603-Methylglutaconic aciduria type 2302060C0574083OMIM115840011577300394
HP:0000400HP:0000400Macrotia0TBC1D20 CL E G H1286372510ORPHA1710216133611663
HP:0000400HP:0000400Macrotia0TBL2 CL E G H26608904Blepharophimosis nasal groove growth retardationORPHA115911586605842
HP:0000400HP:0000400Macrotia0TBX22 CL E G H50945302905Abruzzo Erickson syndrome302905C1844862OMIM13018811600300307
HP:0000400HP:0000400Macrotia0TBX22 CL E G H50945921Bone dysplasia corpus callosum agenesisORPHA13018811600300307
HP:0000400HP:0000400Macrotia0TOE1 CL E G H114034614969Pontocerebellar hypoplasia, type 7614969C3554226OMIM11212815954613931
HP:0000400HP:0000400Macrotia0TP53RK CL E G H1128582065ORPHA152616197608679
HP:0000400HP:0000400Macrotia0TPRKB CL E G H510022065ORPHA121324259608680
HP:0000400HP:0000400Macrotia0TRIO CL E G H7204617061Mental retardation, autosomal dominant 44617061C4310740OMIM13230812303601893
HP:0000400HP:0000400Macrotia0TRPS1 CL E G H722777258ORPHA114222112340604386
HP:0000400HP:0000400Macrotia0TRPS1 CL E G H7227190350Trichorhinophalangeal dysplasia type I190350C0432233OMIM114222112340604386
HP:0000400HP:0000400Macrotia0TTI2 CL E G H80185615541Mental retardation, autosomal recessive 39615541C3809853OMIM128926262614426
HP:0000400HP:0000400Macrotia0WDR4 CL E G H107852065ORPHA169112756605924
HP:0000400HP:0000400Macrotia0WDR73 CL E G H849422065ORPHA1129525928616144
HP:0000400HP:0000400Macrotia0WDR73 CL E G H84942251300Galloway-Mowat syndrome 1251300CN031715OMIM1129525928616144
HP:0000400HP:0000400Macrotia0YME1L1 CL E G H10730617302Optic atrophy 11617302C4310628OMIM113612843607472
HP:0000400HP:0000400Macrotia0ZBTB20 CL E G H261373042ORPHA12510913503606025
HP:0000400HP:0000400Macrotia0ZBTB20 CL E G H26137259050Primrose syndrome259050C0796121OMIM12510913503606025
HP:0000400HP:0000400Macrotia0ZMPSTE24 CL E G H10269740Aortic arch interruptionORPHA13413612877606480
HP:0000400HP:0000400Macrotia0ZNHIT3 CL E G H93262836ORPHA119912309604500
HP:0000400HP:0000400Macrotia1ADAMTSL1 CL E G H92949521445ORPHA1310814632609198
HP:0000400HP:0000400Macrotia1AGPAT2 CL E G H10555608594Congenital generalized lipodystrophy type 1608594C1720862OMIM143189325603100
HP:0000400HP:0000400Macrotia1AIP CL E G H9049963ORPHA1112273358605555
HP:0000400HP:0000400Macrotia1AKT1 CL E G H207744Aortic valves stenosis of the childORPHA112269391164730
HP:0000400HP:0000400Macrotia1ALDH18A1 CL E G H5832219150Cutis laxa-corneal clouding-oligophrenia syndrome219150C0268354OMIM1332529722138250
HP:0000400HP:0000400Macrotia1ALG3 CL E G H10195601110Congenital disorder of glycosylation type 1D601110C1832736OMIM11912323056608750
HP:0000400HP:0000400Macrotia1ANKRD11 CL E G H291232332ORPHA113472121316611192
HP:0000400HP:0000400Macrotia1ANKRD11 CL E G H29123148050KBG syndrome148050C0220687OMIM113472121316611192
HP:0000400HP:0000400Macrotia1AP1S2 CL E G H890585335ORPHA114204560300629
HP:0000400HP:0000400Macrotia1AP3D1 CL E G H8943617050Hermansky-Pudlak syndrome 10617050C4310746OMIM1490568607246
HP:0000400HP:0000400Macrotia1APC2 CL E G H10297821ORPHA1315624036612034
HP:0000400HP:0000400Macrotia1ASNS CL E G H440615574Asparagine synthetase deficiency615574C3809971OMIM12798753108370
HP:0000400HP:0000400Macrotia1ATP6V1A CL E G H523617403CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID617403C4479409OMIM1947851607027
HP:0000400HP:0000400Macrotia1BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA15187961605681
HP:0000400HP:0000400Macrotia1BMP4 CL E G H652607932Microphthalmia syndromic 6607932C1864689OMIM148891071112262
HP:0000400HP:0000400Macrotia1BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA1684901097164757
HP:0000400HP:0000400Macrotia1BRWD3 CL E G H254065300659Mental retardation, X-linked 93300659C1970841OMIM11834317342300553
HP:0000400HP:0000400Macrotia1BSCL2 CL E G H26580269700Congenital generalized lipodystrophy type 2269700C1720863OMIM15026315832606158
HP:0000400HP:0000400Macrotia1CASK CL E G H8573163937ORPHA11194461497300172
HP:0000400HP:0000400Macrotia1CASK CL E G H8573300749Mental retardation and microcephaly with pontine and cerebellar hypoplasia300749C2677903OMIM11194461497300172
HP:0000400HP:0000400Macrotia1CBL CL E G H867613563Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia613563C3150803OMIM1436101541165360
HP:0000400HP:0000400Macrotia1CEP120 CL E G H153241616300Short-rib thoracic dysplasia 13 with or without polydactyly616300C4225378OMIM198726690613446
HP:0000400HP:0000400Macrotia1CHRNA1 CL E G H1134608930Congenital myasthenic syndrome 1B, fast-channel608930C1837122OMIM1362361955100690
HP:0000400HP:0000400Macrotia1CIT CL E G H11113617090Microcephaly 17, primary, autosomal recessive617090C4310723OMIM1151131985605629
HP:0000400HP:0000400Macrotia1CLIC2 CL E G H1193300886Mental retardation, X-linked, syndromic 32300886C3550913OMIM132402063300138
HP:0000400HP:0000400Macrotia1CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA111742586603432
HP:0000400HP:0000400Macrotia1CTU2 CL E G H348180618142MICROCEPHALY, FACIAL DYSMORPHISM, RENAL AGENESIS, AND AMBIGUOUS GENITALIA SYNDROME618142OMIM1410328005617057
HP:0000400HP:0000400Macrotia1CWC27 CL E G H10283250410Retinitis pigmentosa with or without skeletal anomalies250410C1855188OMIM175310664617170
HP:0000400HP:0000400Macrotia1CXorf56 CL E G H63932301013MENTAL RETARDATION, X-LINKED 107301013CN244560OMIM1116626239301012
HP:0000400HP:0000400Macrotia1DPF2 CL E G H5977618027COFFIN-SIRIS SYNDROME 7618027CN248780OMIM19149964601671
HP:0000400HP:0000400Macrotia1DZIP1L CL E G H199221731ORPHA153426551617570
HP:0000400HP:0000400Macrotia1EED CL E G H87263447ORPHA19493188605984
HP:0000400HP:0000400Macrotia1EED CL E G H8726617561Cohen-Gibson syndrome617561C4479654OMIM19493188605984
HP:0000400HP:0000400Macrotia1ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA11275233327130160
HP:0000400HP:0000400Macrotia1EYA1 CL E G H21382792Hyperbilirubinemia type 1ORPHA12212903519601653
HP:0000400HP:0000400Macrotia1EZH2 CL E G H21463447ORPHA1422353527601573
HP:0000400HP:0000400Macrotia1EZH2 CL E G H2146277590Weaver syndrome277590C0265210OMIM1422353527601573
HP:0000400HP:0000400Macrotia1FAR1 CL E G H84188616154Peroxisomal fatty acyl-coa reductase 1 disorder616154C4015344OMIM144026222616107
HP:0000400HP:0000400Macrotia1FGFR2 CL E G H22631555ORPHA11593363689176943
HP:0000400HP:0000400Macrotia1FIBP CL E G H9158617107Thauvin-Robinet-Faivre syndrome617107C4310715OMIM12293705608296
HP:0000400HP:0000400Macrotia1FLNA CL E G H2316309350Melnick-Needles syndrome309350C0025237OMIM127114723754300017
HP:0000400HP:0000400Macrotia1FMR1 CL E G H2332300624Fragile X syndrome300624C0016667OMIM1812813775309550
HP:0000400HP:0000400Macrotia1FTSJ1 CL E G H24140309549Mental retardation 9, X-linked309549C0796215OMIM11020613254300499
HP:0000400HP:0000400Macrotia1GLI2 CL E G H2736610829Holoprosencephaly 9610829C1835819OMIM1883724318165230
HP:0000400HP:0000400Macrotia1GPR101 CL E G H83550963ORPHA11819414963300393
HP:0000400HP:0000400Macrotia1GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA111574659601679
HP:0000400HP:0000400Macrotia1GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA162064661604318
HP:0000400HP:0000400Macrotia1HECW2 CL E G H57520617268Neurodevelopmental disorder with hypotonia, seizures, and absent language617268C4310643OMIM11014029853617245
HP:0000400HP:0000400Macrotia1HERC1 CL E G H8925617011Macrocephaly, dysmorphic facies, and psychomotor retardation617011C4310766OMIM191734867605109
HP:0000400HP:0000400Macrotia1HHAT CL E G H557331422Cohen Hayden syndromeORPHA144818270605743
HP:0000400HP:0000400Macrotia1INSR CL E G H3643508Acroosteolysis dominant typeORPHA11964076091147670
HP:0000400HP:0000400Macrotia1INSR CL E G H3643246200Leprechaunism syndrome246200C0265344OMIM11964076091147670
HP:0000400HP:0000400Macrotia1ITGA3 CL E G H3675614748Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital614748C3553636OMIM111606139605025
HP:0000400HP:0000400Macrotia1JAG1 CL E G H182118450Alagille syndrome 1118450C1956125OMIM16206456188601920
HP:0000400HP:0000400Macrotia1KANSL1 CL E G H284058610443Koolen-de Vries syndrome610443C1864871OMIM17284024565612452
HP:0000400HP:0000400Macrotia1KCNJ1 CL E G H3758241200Bartter syndrome, type 2, antenatal241200C1855849OMIM1701766255600359
HP:0000400HP:0000400Macrotia1KDM5C CL E G H8242300534Mental retardation, syndromic, Claes-Jensen type, X-linked300534C1845243OMIM15632711114314690
HP:0000400HP:0000400Macrotia1KDM6A CL E G H74032322ORPHA18131112637300128
HP:0000400HP:0000400Macrotia1KDM6A CL E G H7403147920Kabuki syndrome 1147920CN030661OMIM18131112637300128
HP:0000400HP:0000400Macrotia1KIF1A CL E G H5472836ORPHA1431059888601255
HP:0000400HP:0000400Macrotia1KMT2D CL E G H80852322ORPHA171213507133602113
HP:0000400HP:0000400Macrotia1KMT2D CL E G H8085147920Kabuki syndrome 1147920CN030661OMIM171213507133602113
HP:0000400HP:0000400Macrotia1KRAS CL E G H38451340Chromosome 4, monosomy 4qC0265404ORPHA1452746407190070
HP:0000400HP:0000400Macrotia1LAGE3 CL E G H82702065ORPHA1321926058300060
HP:0000400HP:0000400Macrotia1LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA171936613601329
HP:0000400HP:0000400Macrotia1LMNA CL E G H4000740Aortic arch interruptionORPHA157411526636150330
HP:0000400HP:0000400Macrotia1MAN2B1 CL E G H4125248500Deficiency of alpha-mannosidase248500C0024748OMIM11513936826609458
HP:0000400HP:0000400Macrotia1MAP2K1 CL E G H56041340Chromosome 4, monosomy 4qC0265404ORPHA1232136840176872
HP:0000400HP:0000400Macrotia1MAP2K2 CL E G H56051340Chromosome 4, monosomy 4qC0265404ORPHA1353386842601263
HP:0000400HP:0000400Macrotia1MECP2 CL E G H4204300260MECP2 duplication syndrome300260C1846058OMIM1105014426990300005
HP:0000400HP:0000400Macrotia1MECP2 CL E G H4204300055Mental retardation, X-linked, syndromic 13300055C1968550OMIM1105014426990300005
HP:0000400HP:0000400Macrotia1MED13L CL E G H23389616789Mental retardation and distinctive facial features with or without cardiac defects616789C4225208OMIM18135022962608771
HP:0000400HP:0000400Macrotia1MGAT2 CL E G H4247212066Carbohydrate-deficient glycoprotein syndrome type II212066C2931008OMIM151077045602616
HP:0000400HP:0000400Macrotia1MGP CL E G H4256245150Keutel syndrome245150C1855607OMIM112817060154870
HP:0000400HP:0000400Macrotia1MMACHC CL E G H25974277400Methylmalonic acidemia with homocystinuria277400C1848561OMIM19527424525609831
HP:0000400HP:0000400Macrotia1MPLKIP CL E G H136647234050Trichothiodystrophy, nonphotosensitive 1234050C1961117OMIM1195016002609188
HP:0000400HP:0000400Macrotia1NAA10 CL E G H8260300855N-terminal acetyltransferase deficiency300855C3275447OMIM11029618704300013
HP:0000400HP:0000400Macrotia1NALCN CL E G H259232615419Hypotonia, infantile, with psychomotor retardation and characteristic facies 1615419C3809454OMIM16524719082611549
HP:0000400HP:0000400Macrotia1NBN CL E G H4683647ORPHA114820457652602667
HP:0000400HP:0000400Macrotia1NBN CL E G H4683251260Microcephaly, normal intelligence and immunodeficiency251260C0398791OMIM114820457652602667
HP:0000400HP:0000400Macrotia1NDE1 CL E G H54820605013Microhydranencephaly605013C1857977OMIM120116117619609449
HP:0000400HP:0000400Macrotia1NDP CL E G H4693649ORPHA11672077678300658
HP:0000400HP:0000400Macrotia1NECTIN1 CL E G H58183253Limb dystoniaORPHA1151959706600644
HP:0000400HP:0000400Macrotia1NHS CL E G H4810302350Nance-Horan syndrome302350C0796085OMIM1523537820300457
HP:0000400HP:0000400Macrotia1NSD1 CL E G H64324821ORPHA152589614234606681
HP:0000400HP:0000400Macrotia1NSD1 CL E G H643243447ORPHA152589614234606681
HP:0000400HP:0000400Macrotia1NUP107 CL E G H571222065ORPHA1124029914607617
HP:0000400HP:0000400Macrotia1OPHN1 CL E G H4983300486Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance300486C1845366OMIM1432458148300127
HP:0000400HP:0000400Macrotia1OSGEP CL E G H556442065ORPHA1174618028610107
HP:0000400HP:0000400Macrotia1OTUD6B CL E G H51633505237ORPHA164724281612021
HP:0000400HP:0000400Macrotia1OTUD6B CL E G H51633617452Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies617452C4479520OMIM164724281612021
HP:0000400HP:0000400Macrotia1PACS1 CL E G H55690615009Schuurs-hoeijmakers syndrome615009C3554343OMIM129130032607492
HP:0000400HP:0000400Macrotia1PAK3 CL E G H5063300558Mental retardation 30, X-linked300558C0796237OMIM1142288592300142
HP:0000400HP:0000400Macrotia1PAX1 CL E G H50752792Hyperbilirubinemia type 1ORPHA110528615167411
HP:0000400HP:0000400Macrotia1PCLO CL E G H27445608027Pontocerebellar hypoplasia type 3608027C1842687OMIM1612013406604918
HP:0000400HP:0000400Macrotia1PGAP1 CL E G H80055615802Mental retardation, autosomal recessive 42615802C4014343OMIM11210525712611655
HP:0000400HP:0000400Macrotia1PHF6 CL E G H84295301900Borjeson-Forssman-Lehmann syndrome301900C0265339OMIM12923518145300414
HP:0000400HP:0000400Macrotia1PHGDH CL E G H262272671Herrmann Opitz craniosynostosisORPHA1231458923606879
HP:0000400HP:0000400Macrotia1PHGDH CL E G H26227256520Neu-Laxova syndrome 1256520CN032230OMIM1231458923606879
HP:0000400HP:0000400Macrotia1PHIP CL E G H55023617991DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES617991CN248510OMIM1297815673612870
HP:0000400HP:0000400Macrotia1PIEZO2 CL E G H638951154Cataract mental retardation hypogonadismORPHA13232926270613629
HP:0000400HP:0000400Macrotia1PIK3R1 CL E G H5295269880SHORT syndrome269880C0878684OMIM1291568979171833
HP:0000400HP:0000400Macrotia1PKHD1 CL E G H5314731ORPHA156516309016606702
HP:0000400HP:0000400Macrotia1PMM2 CL E G H5373212065Carbohydrate-deficient glycoprotein syndrome type I212065C0349653OMIM11293639115601785
HP:0000400HP:0000400Macrotia1POLR1A CL E G H25885616462Acrofacial dysostosis, Cincinnati type616462C4225317OMIM159317264616404
HP:0000400HP:0000400Macrotia1PPP1CB CL E G H55002701Noonan syndrome-like disorder with loose anagen hairC3501846ORPHA112409282600590
HP:0000400HP:0000400Macrotia1PQBP1 CL E G H10084309500Renpenning syndrome 1309500C0796135OMIM1222289330300463
HP:0000400HP:0000400Macrotia1PRDX1 CL E G H5052277400Methylmalonic acidemia with homocystinuria277400C1848561OMIM13229352176763
HP:0000400HP:0000400Macrotia1PRUNE1 CL E G H58497617481Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies617481C4479566OMIM1102713420617413
HP:0000400HP:0000400Macrotia1PSAT1 CL E G H299682671Herrmann Opitz craniosynostosisORPHA11032319129610936
HP:0000400HP:0000400Macrotia1PSMB8 CL E G H5696256040Nakajo syndrome256040C1850568OMIM111869545177046
HP:0000400HP:0000400Macrotia1PTCH1 CL E G H5727610828Holoprosencephaly 7610828C1835820OMIM152920319585601309
HP:0000400HP:0000400Macrotia1PTDSS1 CL E G H97912658ORPHA17609587612792
HP:0000400HP:0000400Macrotia1PTDSS1 CL E G H9791151050Lenz-Majewski hyperostosis syndrome151050C0432269OMIM17609587612792
HP:0000400HP:0000400Macrotia1PTEN CL E G H5728744Aortic valves stenosis of the childORPHA165820199588601728
HP:0000400HP:0000400Macrotia1RAB18 CL E G H229312510ORPHA1515414244602207
HP:0000400HP:0000400Macrotia1RAB18 CL E G H22931614222Warburg micro syndrome 3614222C3280203OMIM1515414244602207
HP:0000400HP:0000400Macrotia1RAB3GAP1 CL E G H229302510ORPHA16719317063602536
HP:0000400HP:0000400Macrotia1RAB3GAP1 CL E G H22930600118Warburg micro syndrome 1600118C1838625OMIM16719317063602536
HP:0000400HP:0000400Macrotia1RAB3GAP2 CL E G H257822510ORPHA11629417168609275
HP:0000400HP:0000400Macrotia1RAB3GAP2 CL E G H25782614225Warburg micro syndrome 2614225C3280214OMIM11629417168609275
HP:0000400HP:0000400Macrotia1RAP1A CL E G H59062322ORPHA12209855179520
HP:0000400HP:0000400Macrotia1RAP1B CL E G H59082322ORPHA11199857179530
HP:0000400HP:0000400Macrotia1RBMX CL E G H27316300238Mental retardation X-linked syndromic 11300238C1846145OMIM111829910300199
HP:0000400HP:0000400Macrotia1RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA141739970600404
HP:0000400HP:0000400Macrotia1SALL1 CL E G H6299107480Townes-Brocks syndrome 1107480CN034849OMIM18818210524602218
HP:0000400HP:0000400Macrotia1SET CL E G H6418618106MENTAL RETARDATION, AUTOSOMAL DOMINANT 58618106CN253713OMIM177210760600960
HP:0000400HP:0000400Macrotia1SETD2 CL E G H29072821ORPHA11943318420612778
HP:0000400HP:0000400Macrotia1SHANK3 CL E G H8535848652ORPHA119436614294606230
HP:0000400HP:0000400Macrotia1SHANK3 CL E G H8535860623222q13.3 deletion syndrome606232C1853490OMIM119436614294606230
HP:0000400HP:0000400Macrotia1SHOC2 CL E G H80362701Noonan syndrome-like disorder with loose anagen hairC3501846ORPHA1418415454602775
HP:0000400HP:0000400Macrotia1SIM1 CL E G H6492171829ORPHA15311610882603128
HP:0000400HP:0000400Macrotia1SIN3A CL E G H2594294065ORPHA11611619353607776
HP:0000400HP:0000400Macrotia1SIN3A CL E G H25942613406Witteveen-kolk syndrome613406C3150674OMIM11611619353607776
HP:0000400HP:0000400Macrotia1SLC12A6 CL E G H9990218000Andermann syndrome218000C0795950OMIM12038710914604878
HP:0000400HP:0000400Macrotia1SLC16A2 CL E G H656759ORPHA18825710923300095
HP:0000400HP:0000400Macrotia1SLC16A2 CL E G H6567300523Allan-Herndon-Dudley syndrome300523C0795889OMIM18825710923300095
HP:0000400HP:0000400Macrotia1SLC2A10 CL E G H810313342ORPHA13533913444606145
HP:0000400HP:0000400Macrotia1SLC6A17 CL E G H388662616269Mental retardation, autosomal recessive 48616269C4225395OMIM134031399610299
HP:0000400HP:0000400Macrotia1SLC9A6 CL E G H1047985278ORPHA12835111079300231
HP:0000400HP:0000400Macrotia1SLC9A6 CL E G H10479300243Christianson syndrome300243C2678194OMIM12835111079300231
HP:0000400HP:0000400Macrotia1SSR4 CL E G H6748370927ORPHA1725011326300090
HP:0000400HP:0000400Macrotia1SSR4 CL E G H6748300934Congenital disorder of glycosylation type 1y300934C4012395OMIM1725011326300090
HP:0000400HP:0000400Macrotia1SUZ12 CL E G H235123447ORPHA137217101606245
HP:0000400HP:0000400Macrotia1TAF1 CL E G H6872300966Mental retardation, X-linked, syndromic 33300966C4225418OMIM11724011535313650
HP:0000400HP:0000400Macrotia1TAZ CL E G H69013020603-Methylglutaconic aciduria type 2302060C0574083OMIM115840011577300394
HP:0000400HP:0000400Macrotia1TBC1D20 CL E G H1286372510ORPHA1710216133611663
HP:0000400HP:0000400Macrotia1TBL2 CL E G H26608904Blepharophimosis nasal groove growth retardationORPHA115911586605842
HP:0000400HP:0000400Macrotia1TBX22 CL E G H50945302905Abruzzo Erickson syndrome302905C1844862OMIM13018811600300307
HP:0000400HP:0000400Macrotia1TBX22 CL E G H50945921Bone dysplasia corpus callosum agenesisORPHA13018811600300307
HP:0000400HP:0000400Macrotia1TOE1 CL E G H114034614969Pontocerebellar hypoplasia, type 7614969C3554226OMIM11212815954613931
HP:0000400HP:0000400Macrotia1TP53RK CL E G H1128582065ORPHA152616197608679
HP:0000400HP:0000400Macrotia1TPRKB CL E G H510022065ORPHA121324259608680
HP:0000400HP:0000400Macrotia1TRIO CL E G H7204617061Mental retardation, autosomal dominant 44617061C4310740OMIM13230812303601893
HP:0000400HP:0000400Macrotia1TRPS1 CL E G H722777258ORPHA114222112340604386
HP:0000400HP:0000400Macrotia1TRPS1 CL E G H7227190350Trichorhinophalangeal dysplasia type I190350C0432233OMIM114222112340604386
HP:0000400HP:0000400Macrotia1TTI2 CL E G H80185615541Mental retardation, autosomal recessive 39615541C3809853OMIM128926262614426
HP:0000400HP:0000400Macrotia1WDR4 CL E G H107852065ORPHA169112756605924
HP:0000400HP:0000400Macrotia1WDR73 CL E G H849422065ORPHA1129525928616144
HP:0000400HP:0000400Macrotia1WDR73 CL E G H84942251300Galloway-Mowat syndrome 1251300CN031715OMIM1129525928616144
HP:0000400HP:0000400Macrotia1YME1L1 CL E G H10730617302Optic atrophy 11617302C4310628OMIM113612843607472
HP:0000400HP:0000400Macrotia1ZBTB20 CL E G H261373042ORPHA12510913503606025
HP:0000400HP:0000400Macrotia1ZBTB20 CL E G H26137259050Primrose syndrome259050C0796121OMIM12510913503606025
HP:0000400HP:0000400Macrotia1ZMPSTE24 CL E G H10269740Aortic arch interruptionORPHA13413612877606480
HP:0000400HP:0000400Macrotia1ZNHIT3 CL E G H93262836ORPHA119912309604500
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000400HP:0000400Macrotia0AHSG CL E G H1972850ORPHA0657349138680
HP:0000400HP:0000400Macrotia0CHRNA7 CL E G H1139199318ORPHA0573031960118511
HP:0000400HP:0000400Macrotia0DYRK1A CL E G H1859614104Mental retardation, autosomal dominant 7614104C3279839OMIM0774373091600855
HP:0000400HP:0000400Macrotia0HDAC8 CL E G H55869199Cardiac hydatid cysts with intracavitary expansionORPHA05622713315300269
HP:0000400HP:0000400Macrotia0ITGB6 CL E G H36942850ORPHA07606161147558
HP:0000400HP:0000400Macrotia0KDM6A CL E G H7403300867Kabuki syndrome 2300867C3275495OMIM08131112637300128
HP:0000400HP:0000400Macrotia0KIF1BP CL E G H2612866629ORPHA01023419609367
HP:0000400HP:0000400Macrotia0KMT2A CL E G H4297199Cardiac hydatid cysts with intracavitary expansionORPHA01273797132159555
HP:0000400HP:0000400Macrotia0MBTPS2 CL E G H513602273Fara Chlupackova syndromeORPHA02620715455300294
HP:0000400HP:0000400Macrotia0MECP2 CL E G H4204778ORPHA0105014426990300005
HP:0000400HP:0000400Macrotia0MID2 CL E G H11043300928Mental retardation, X-linked 101300928C3890168OMIM021847096300204
HP:0000400HP:0000400Macrotia0NAA10 CL E G H8260276432ORPHA01029618704300013
HP:0000400HP:0000400Macrotia0NIPBL CL E G H25836199Cardiac hydatid cysts with intracavitary expansionORPHA043780928862608667
HP:0000400HP:0000400Macrotia0OPHN1 CL E G H4983137831ORPHA0432458148300127
HP:0000400HP:0000400Macrotia0PPP1R15B CL E G H84919616817Microcephaly, short stature, and impaired glucose metabolism 2616817C4225195OMIM053414951613257
HP:0000400HP:0000400Macrotia0PSMB8 CL E G H56962615ORPHA011869545177046
HP:0000400HP:0000400Macrotia0PTEN CL E G H5728109Bannayan-Riley-Ruvalcaba syndromeC0265326ORPHA065820199588601728
HP:0000400HP:0000400Macrotia0RAD21 CL E G H5885199Cardiac hydatid cysts with intracavitary expansionORPHA0131499811606462
HP:0000400HP:0000400Macrotia0RMRP CL E G H6023175ORPHA012341110031157660
HP:0000400HP:0000400Macrotia0SETD5 CL E G H55209199Cardiac hydatid cysts with intracavitary expansionORPHA03823625566615743
HP:0000400HP:0000400Macrotia0SMC1A CL E G H8243199Cardiac hydatid cysts with intracavitary expansionORPHA010048411111300040
HP:0000400HP:0000400Macrotia0SMC3 CL E G H9126199Cardiac hydatid cysts with intracavitary expansionORPHA0282132468606062
HP:0000400HP:0000400Macrotia0SNAP29 CL E G H934266631ORPHA01352711133604202
HP:0000400HP:0000400Macrotia0UBA1 CL E G H73171145ORPHA0535112469314370
HP:0000400HP:0000400Macrotia0ZIC2 CL E G H7546609637Holoprosencephaly 5609637C1864827OMIM012315412873603073
HP:0000400HP:0000400Macrotia1AHSG CL E G H1972850ORPHA0657349138680
HP:0000400HP:0000400Macrotia1CHRNA7 CL E G H1139199318ORPHA0573031960118511
HP:0000400HP:0000400Macrotia1DYRK1A CL E G H1859614104Mental retardation, autosomal dominant 7614104C3279839OMIM0774373091600855
HP:0000400HP:0000400Macrotia1HDAC8 CL E G H55869199Cardiac hydatid cysts with intracavitary expansionORPHA05622713315300269
HP:0000400HP:0000400Macrotia1ITGB6 CL E G H36942850ORPHA07606161147558
HP:0000400HP:0000400Macrotia1KDM6A CL E G H7403300867Kabuki syndrome 2300867C3275495OMIM08131112637300128
HP:0000400HP:0000400Macrotia1KIF1BP CL E G H2612866629ORPHA01023419609367
HP:0000400HP:0000400Macrotia1KMT2A CL E G H4297199Cardiac hydatid cysts with intracavitary expansionORPHA01273797132159555
HP:0000400HP:0000400Macrotia1MBTPS2 CL E G H513602273Fara Chlupackova syndromeORPHA02620715455300294
HP:0000400HP:0000400Macrotia1MECP2 CL E G H4204778ORPHA0105014426990300005
HP:0000400HP:0000400Macrotia1MID2 CL E G H11043300928Mental retardation, X-linked 101300928C3890168OMIM021847096300204
HP:0000400HP:0000400Macrotia1NAA10 CL E G H8260276432ORPHA01029618704300013
HP:0000400HP:0000400Macrotia1NIPBL CL E G H25836199Cardiac hydatid cysts with intracavitary expansionORPHA043780928862608667
HP:0000400HP:0000400Macrotia1OPHN1 CL E G H4983137831ORPHA0432458148300127
HP:0000400HP:0000400Macrotia1PPP1R15B CL E G H84919616817Microcephaly, short stature, and impaired glucose metabolism 2616817C4225195OMIM053414951613257
HP:0000400HP:0000400Macrotia1PSMB8 CL E G H56962615ORPHA011869545177046
HP:0000400HP:0000400Macrotia1PTEN CL E G H5728109Bannayan-Riley-Ruvalcaba syndromeC0265326ORPHA065820199588601728
HP:0000400HP:0000400Macrotia1RAD21 CL E G H5885199Cardiac hydatid cysts with intracavitary expansionORPHA0131499811606462
HP:0000400HP:0000400Macrotia1RMRP CL E G H6023175ORPHA012341110031157660
HP:0000400HP:0000400Macrotia1SETD5 CL E G H55209199Cardiac hydatid cysts with intracavitary expansionORPHA03823625566615743
HP:0000400HP:0000400Macrotia1SMC1A CL E G H8243199Cardiac hydatid cysts with intracavitary expansionORPHA010048411111300040
HP:0000400HP:0000400Macrotia1SMC3 CL E G H9126199Cardiac hydatid cysts with intracavitary expansionORPHA0282132468606062
HP:0000400HP:0000400Macrotia1SNAP29 CL E G H934266631ORPHA01352711133604202
HP:0000400HP:0000400Macrotia1UBA1 CL E G H73171145ORPHA0535112469314370
HP:0000400HP:0000400Macrotia1ZIC2 CL E G H7546609637Holoprosencephaly 5609637C1864827OMIM012315412873603073


Genes (170) :ADAMTSL1 AGPAT2 AHSG AIP AKT1 ALDH18A1 ALG3 ALG9 ANKRD11 AP1S2 AP3D1 APC2 ASNS ATP6V1A ATP6V1B2 BAZ1B BMP4 BRAF BRWD3 BSCL2 CASK CBL CEP120 CHRNA1 CHRNA7 CIT CLIC2 CLIP2 COLEC10 COLEC11 CTU2 CWC27 CXORF56 CXorf56 DPF2 DYRK1A DZIP1L EED ELN EYA1 EZH2 FAR1 FGFR2 FIBP FLNA FMR1 FTSJ1 GLI2 GPR101 GTF2I GTF2IRD1 HDAC8 HECW2 HERC1 HHAT INSR ITGA3 ITGB6 JAG1 KANSL1 KCNH1 KCNJ1 KDM5C KDM6A KIF1A KIF1BP KMT2A KMT2D KRAS LAGE3 LIMK1 LMNA MAN2B1 MAP2K1 MAP2K2 MASP1 MBTPS2 MECP2 MED13L MGAT2 MGP MID2 MMACHC MPLKIP NAA10 NALCN NBN NDE1 NDP NECTIN1 NHS NIPBL NSD1 NUP107 OPHN1 OSGEP OTUD6B PACS1 PAK3 PAX1 PCLO PGAP1 PHF6 PHGDH PHIP PIEZO2 PIGN PIK3R1 PKHD1 PMM2 POLR1A PPP1CB PPP1R15B PQBP1 PRDX1 PRUNE1 PSAT1 PSMB8 PTCH1 PTDSS1 PTEN RAB18 RAB3GAP1 RAB3GAP2 RAD21 RAP1A RAP1B RBMX RFC2 RMRP SALL1 SET SETD2 SETD5 SHANK3 SHOC2 SIM1 SIN3A SLC12A6 SLC16A2 SLC2A10 SLC6A17 SLC9A6 SMC1A SMC3 SNAP29 SSR4 SUZ12 TAF1 TAPT1 TAZ TBC1D20 TBL1XR1 TBL2 TBX22 TOE1 TP53RK TPRKB TRAPPC9 TRIO TRPS1 TTI2 UBA1 WDR4 WDR73 YME1L1 ZBTB20 ZIC2 ZMPSTE24 ZNHIT3

Diseases (154) :521445 608594 2850 963 744 219150 601110 2332 148050 85335 617050 821 615574 617403 904 607932 1340 300659 269700 163937 300749 613563 616300 608930 199318 617090 300886 618142 250410 301013 618027 614104 731 3447 617561 2792 277590 616154 1555 617107 309350 300624 309549 610829 199 617268 617011 1422 508 246200 614748 118450 610443 241200 300534 2322 147920 300867 2836 66629 2065 740 248500 2273 778 300260 300055 616789 212066 245150 300928 277400 234050 276432 300855 615419 647 251260 605013 649 3253 302350 137831 300486 505237 617452 615009 300558 608027 615802 301900 2671 256520 617991 1154 269880 212065 616462 2701 616817 309500 617481 2615 256040 610828 2658 151050 109 2510 614222 600118 614225 300238 175 107480 618106 48652 606232 171829 94065 613406 218000 59 300523 3342 616269 85278 300243 66631 370927 300934 300966 302060 302905 921 614969 617061 77258 190350 615541 1145 251300 617302 3042 259050 609637 263210 3473 293843 280633 614080 616897 602342 352530
 

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