Human Phenotype Ontology 
Grandparent Node:
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Abnormal finger phalanx morphology (HP:0005918)help
Grandparent Node:
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Abnormal morphology of bones of the upper limbs (HP:0040065)help
Grandparent Node:
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Broad finger (HP:0001500)help
Grandparent Node:
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Broad phalanx (HP:0006009)help
Parent Node:
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Abnormality of thumb phalanx (HP:0009602)help
Parent Node:
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Broad phalanges of the hand (HP:0009768)help
..Starting node
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Broad thumb (HP:0011304)help
Term ID: 11304
Name: Broad thumb
Synonym: Broad phalanges of the thumb; Broad thumb; Broad thumbs; Wide/broad thumb; Wide/broad thumb phalanges
Definition: Increased thumb width without increased dorso-ventral dimension.
Comments:
Reference: HP:0011304
Genes and Diseases:
 
       Child Nodes:
........expandSpatulate thumbs (HP:0001222) help
........expandBroad proximal phalanx of the thumb (HP:0009630) help
........expandBroad distal phalanx of the thumb (HP:0009642) help

 Sister Nodes: 
..expandBroad distal phalanx of finger (HP:0009836) help
..expandBroad middle phalanx of finger (HP:0009844) help
..expandBroad phalanges of the 2nd finger (HP:0009547) help
..expandBroad phalanges of the 3rd finger (HP:0009440) help
..expandBroad phalanges of the 4th finger (HP:0009404) help
..expandBroad phalanges of the 5th finger (HP:0009374) help
..expandBroad proximal phalanges of the hand (HP:0009852) help
..expandExpanded phalanges with widened medullary cavities (HP:0006112) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0011304HP:0011304Broad thumb0ACAN CL E G H176171866ORPHA164178319155760
HP:0011304HP:0011304Broad thumb0COL2A1 CL E G H1280271700Spondyloperipheral dysplasia271700C0796173OMIM15707312200120140
HP:0011304HP:0011304Broad thumb0CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM13647552348600140
HP:0011304HP:0011304Broad thumb0DVL1 CL E G H1855180700Robinow syndrome180700C0265205OMIM1192443084601365
HP:0011304HP:0011304Broad thumb0DVL1 CL E G H1855616331Robinow syndrome, autosomal dominant 2616331C4225363OMIM1192443084601365
HP:0011304HP:0011304Broad thumb0DVL3 CL E G H1857180700Robinow syndrome180700C0265205OMIM115773087601368
HP:0011304HP:0011304Broad thumb0EED CL E G H87263447ORPHA19493188605984
HP:0011304HP:0011304Broad thumb0EED CL E G H8726617561Cohen-Gibson syndrome617561C4479654OMIM19493188605984
HP:0011304HP:0011304Broad thumb0EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM11074153373602700
HP:0011304HP:0011304Broad thumb0EP300 CL E G H2033613684Rubinstein-Taybi syndrome 2613684C3150941OMIM11074153373602700
HP:0011304HP:0011304Broad thumb0EXOSC2 CL E G H23404617763SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES617763C4540367OMIM125917097602238
HP:0011304HP:0011304Broad thumb0EZH2 CL E G H21463447ORPHA1422353527601573
HP:0011304HP:0011304Broad thumb0EZH2 CL E G H2146277590Weaver syndrome277590C0265210OMIM1422353527601573
HP:0011304HP:0011304Broad thumb0FGF9 CL E G H22543237ORPHA131463687600921
HP:0011304HP:0011304Broad thumb0FGFR1 CL E G H226093258ORPHA12653883688136350
HP:0011304HP:0011304Broad thumb0FGFR1 CL E G H2260101600Pfeiffer syndrome101600C1863356OMIM12653883688136350
HP:0011304HP:0011304Broad thumb0FGFR2 CL E G H226393259ORPHA11593363689176943
HP:0011304HP:0011304Broad thumb0FGFR2 CL E G H226393258ORPHA11593363689176943
HP:0011304HP:0011304Broad thumb0FGFR2 CL E G H226387ORPHA11593363689176943
HP:0011304HP:0011304Broad thumb0FGFR2 CL E G H226393260ORPHA11593363689176943
HP:0011304HP:0011304Broad thumb0FGFR2 CL E G H2263101600Pfeiffer syndrome101600C1863356OMIM11593363689176943
HP:0011304HP:0011304Broad thumb0FLNA CL E G H2316304120Oto-palato-digital syndrome, type II304120C1844696OMIM127114723754300017
HP:0011304HP:0011304Broad thumb0FLNB CL E G H2317503ORPHA11225203755603381
HP:0011304HP:0011304Broad thumb0G6PC3 CL E G H92579612541Severe congenital neutropenia 4, autosomal recessive612541C2675526OMIM14011924861611045
HP:0011304HP:0011304Broad thumb0GDF5 CL E G H82003237ORPHA159984220601146
HP:0011304HP:0011304Broad thumb0GJA5 CL E G H27026124741q21.1 recurrent microdeletion612474C2675897OMIM1373504279121013
HP:0011304HP:0011304Broad thumb0GJA8 CL E G H27036124741q21.1 recurrent microdeletion612474C2675897OMIM1633474281600897
HP:0011304HP:0011304Broad thumb0GLI3 CL E G H2737672Angiofollicular ganglionic hyperplasiaORPHA12445374319165240
HP:0011304HP:0011304Broad thumb0GLI3 CL E G H2737175700Greig cephalopolysyndactyly syndrome175700C0265306OMIM12445374319165240
HP:0011304HP:0011304Broad thumb0GPC3 CL E G H2719373Quinquaud's decalvans folliculitisORPHA1985264451300037
HP:0011304HP:0011304Broad thumb0GPC3 CL E G H2719312870Simpson-Golabi-Behmel syndrome312870C0796154OMIM1985264451300037
HP:0011304HP:0011304Broad thumb0GPC4 CL E G H2239373Quinquaud's decalvans folliculitisORPHA151964452300168
HP:0011304HP:0011304Broad thumb0GPC4 CL E G H2239312870Simpson-Golabi-Behmel syndrome312870C0796154OMIM151964452300168
HP:0011304HP:0011304Broad thumb0KCNH1 CL E G H3756611816Temple-Baraitser syndrome611816C2678486OMIM113916250603305
HP:0011304HP:0011304Broad thumb0LIG4 CL E G H3981235ORPHA1403176601601837
HP:0011304HP:0011304Broad thumb0MED12 CL E G H9968305450FG syndrome305450C0220769OMIM13465011957300188
HP:0011304HP:0011304Broad thumb0MED12 CL E G H9968309520X-linked mental retardation with marfanoid habitus syndrome309520C0796022OMIM13465011957300188
HP:0011304HP:0011304Broad thumb0MEGF8 CL E G H195465759ORPHA1192253233604267
HP:0011304HP:0011304Broad thumb0MEGF8 CL E G H1954614976Carpenter syndrome 2614976C3554247OMIM1192253233604267
HP:0011304HP:0011304Broad thumb0MEIS2 CL E G H4212600987Cleft palate, cardiac defects, and mental retardation600987C1832950OMIM123577001601740
HP:0011304HP:0011304Broad thumb0NOG CL E G H92413237ORPHA164477866602991
HP:0011304HP:0011304Broad thumb0NOG CL E G H9241184460Stapes ankylosis with broad thumb and toes184460C1866656OMIM164477866602991
HP:0011304HP:0011304Broad thumb0NSD1 CL E G H643243447ORPHA152589614234606681
HP:0011304HP:0011304Broad thumb0NSUN2 CL E G H54888235ORPHA1726025994610916
HP:0011304HP:0011304Broad thumb0NXN CL E G H643591507Congenital unilateral pulmonary hypoplasiaORPHA1513018008612895
HP:0011304HP:0011304Broad thumb0OTUD6B CL E G H51633505237ORPHA164724281612021
HP:0011304HP:0011304Broad thumb0OTUD6B CL E G H51633617452Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies617452C4479520OMIM164724281612021
HP:0011304HP:0011304Broad thumb0PRKD1 CL E G H5587617364Congenital heart defects and ectodermal dysplasia617364C4479250OMIM18659407605435
HP:0011304HP:0011304Broad thumb0RAB23 CL E G H5171565759ORPHA11510514263606144
HP:0011304HP:0011304Broad thumb0RBM8A CL E G H9939274000Radial aplasia-thrombocytopenia syndrome274000C0175703OMIM1142059905605313
HP:0011304HP:0011304Broad thumb0RLIM CL E G H51132300978Mental retardation, X-linked 61300978C4283894OMIM1516113429300379
HP:0011304HP:0011304Broad thumb0ROR2 CL E G H49201507Congenital unilateral pulmonary hypoplasiaORPHA14025810257602337
HP:0011304HP:0011304Broad thumb0ROR2 CL E G H4920268310Robinow syndrome, autosomal recessive268310C1849334OMIM14025810257602337
HP:0011304HP:0011304Broad thumb0ROR2 CL E G H4920113000Type B brachydactyly113000C1862112OMIM14025810257602337
HP:0011304HP:0011304Broad thumb0SALL1 CL E G H6299107480Townes-Brocks syndrome 1107480CN034849OMIM18818210524602218
HP:0011304HP:0011304Broad thumb0SMO CL E G H66081553ORPHA177111119601500
HP:0011304HP:0011304Broad thumb0SNIP1 CL E G H79753614501Psychomotor retardation, epilepsy, and craniofacial dysmorphism614501C3281055OMIM112830587608241
HP:0011304HP:0011304Broad thumb0SRCAP CL E G H108472044Ectodermal dysplasia Berlin typeORPHA14424516974611421
HP:0011304HP:0011304Broad thumb0SUMF1 CL E G H285362585ORPHA15526520376607939
HP:0011304HP:0011304Broad thumb0SUMF1 CL E G H285362272200Multiple sulfatase deficiency272200C0268263OMIM15526520376607939
HP:0011304HP:0011304Broad thumb0SUZ12 CL E G H235123447ORPHA137217101606245
HP:0011304HP:0011304Broad thumb0USP9X CL E G H8239300919Mental retardation, X-linked 99300919C3806746OMIM12826912632300072
HP:0011304HP:0011304Broad thumb0WNT5A CL E G H7474180700Robinow syndrome180700C0265205OMIM1115812784164975
HP:0011304HP:0011304Broad thumb1ACAN CL E G H176171866ORPHA164178319155760
HP:0011304HP:0011304Broad thumb1COL2A1 CL E G H1280271700Spondyloperipheral dysplasia271700C0796173OMIM15707312200120140
HP:0011304HP:0011304Broad thumb1CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM13647552348600140
HP:0011304HP:0011304Broad thumb1DVL1 CL E G H1855180700Robinow syndrome180700C0265205OMIM1192443084601365
HP:0011304HP:0011304Broad thumb1DVL1 CL E G H1855616331Robinow syndrome, autosomal dominant 2616331C4225363OMIM1192443084601365
HP:0011304HP:0011304Broad thumb1DVL3 CL E G H1857180700Robinow syndrome180700C0265205OMIM115773087601368
HP:0011304HP:0011304Broad thumb1EED CL E G H87263447ORPHA19493188605984
HP:0011304HP:0011304Broad thumb1EED CL E G H8726617561Cohen-Gibson syndrome617561C4479654OMIM19493188605984
HP:0011304HP:0011304Broad thumb1EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM11074153373602700
HP:0011304HP:0011304Broad thumb1EP300 CL E G H2033613684Rubinstein-Taybi syndrome 2613684C3150941OMIM11074153373602700
HP:0011304HP:0011304Broad thumb1EXOSC2 CL E G H23404617763SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES617763C4540367OMIM125917097602238
HP:0011304HP:0011304Broad thumb1EZH2 CL E G H21463447ORPHA1422353527601573
HP:0011304HP:0011304Broad thumb1EZH2 CL E G H2146277590Weaver syndrome277590C0265210OMIM1422353527601573
HP:0011304HP:0011304Broad thumb1FGF9 CL E G H22543237ORPHA131463687600921
HP:0011304HP:0011304Broad thumb1FGFR1 CL E G H226093258ORPHA12653883688136350
HP:0011304HP:0011304Broad thumb1FGFR1 CL E G H2260101600Pfeiffer syndrome101600C1863356OMIM12653883688136350
HP:0011304HP:0011304Broad thumb1FGFR2 CL E G H226393259ORPHA11593363689176943
HP:0011304HP:0011304Broad thumb1FGFR2 CL E G H226393258ORPHA11593363689176943
HP:0011304HP:0011304Broad thumb1FGFR2 CL E G H226387ORPHA11593363689176943
HP:0011304HP:0011304Broad thumb1FGFR2 CL E G H226393260ORPHA11593363689176943
HP:0011304HP:0011304Broad thumb1FGFR2 CL E G H2263101600Pfeiffer syndrome101600C1863356OMIM11593363689176943
HP:0011304HP:0011304Broad thumb1FLNA CL E G H2316304120Oto-palato-digital syndrome, type II304120C1844696OMIM127114723754300017
HP:0011304HP:0011304Broad thumb1FLNB CL E G H2317503ORPHA11225203755603381
HP:0011304HP:0011304Broad thumb1G6PC3 CL E G H92579612541Severe congenital neutropenia 4, autosomal recessive612541C2675526OMIM14011924861611045
HP:0011304HP:0011304Broad thumb1GDF5 CL E G H82003237ORPHA159984220601146
HP:0011304HP:0011304Broad thumb1GJA5 CL E G H27026124741q21.1 recurrent microdeletion612474C2675897OMIM1373504279121013
HP:0011304HP:0011304Broad thumb1GJA8 CL E G H27036124741q21.1 recurrent microdeletion612474C2675897OMIM1633474281600897
HP:0011304HP:0011304Broad thumb1GLI3 CL E G H2737672Angiofollicular ganglionic hyperplasiaORPHA12445374319165240
HP:0011304HP:0011304Broad thumb1GLI3 CL E G H2737175700Greig cephalopolysyndactyly syndrome175700C0265306OMIM12445374319165240
HP:0011304HP:0011304Broad thumb1GPC3 CL E G H2719373Quinquaud's decalvans folliculitisORPHA1985264451300037
HP:0011304HP:0011304Broad thumb1GPC3 CL E G H2719312870Simpson-Golabi-Behmel syndrome312870C0796154OMIM1985264451300037
HP:0011304HP:0011304Broad thumb1GPC4 CL E G H2239373Quinquaud's decalvans folliculitisORPHA151964452300168
HP:0011304HP:0011304Broad thumb1GPC4 CL E G H2239312870Simpson-Golabi-Behmel syndrome312870C0796154OMIM151964452300168
HP:0011304HP:0011304Broad thumb1KCNH1 CL E G H3756611816Temple-Baraitser syndrome611816C2678486OMIM113916250603305
HP:0011304HP:0011304Broad thumb1LIG4 CL E G H3981235ORPHA1403176601601837
HP:0011304HP:0011304Broad thumb1MED12 CL E G H9968305450FG syndrome305450C0220769OMIM13465011957300188
HP:0011304HP:0011304Broad thumb1MED12 CL E G H9968309520X-linked mental retardation with marfanoid habitus syndrome309520C0796022OMIM13465011957300188
HP:0011304HP:0011304Broad thumb1MEGF8 CL E G H195465759ORPHA1192253233604267
HP:0011304HP:0011304Broad thumb1MEGF8 CL E G H1954614976Carpenter syndrome 2614976C3554247OMIM1192253233604267
HP:0011304HP:0011304Broad thumb1MEIS2 CL E G H4212600987Cleft palate, cardiac defects, and mental retardation600987C1832950OMIM123577001601740
HP:0011304HP:0011304Broad thumb1NOG CL E G H92413237ORPHA164477866602991
HP:0011304HP:0011304Broad thumb1NOG CL E G H9241184460Stapes ankylosis with broad thumb and toes184460C1866656OMIM164477866602991
HP:0011304HP:0011304Broad thumb1NSD1 CL E G H643243447ORPHA152589614234606681
HP:0011304HP:0011304Broad thumb1NSUN2 CL E G H54888235ORPHA1726025994610916
HP:0011304HP:0011304Broad thumb1NXN CL E G H643591507Congenital unilateral pulmonary hypoplasiaORPHA1513018008612895
HP:0011304HP:0011304Broad thumb1OTUD6B CL E G H51633505237ORPHA164724281612021
HP:0011304HP:0011304Broad thumb1OTUD6B CL E G H51633617452Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies617452C4479520OMIM164724281612021
HP:0011304HP:0011304Broad thumb1PRKD1 CL E G H5587617364Congenital heart defects and ectodermal dysplasia617364C4479250OMIM18659407605435
HP:0011304HP:0011304Broad thumb1RAB23 CL E G H5171565759ORPHA11510514263606144
HP:0011304HP:0011304Broad thumb1RBM8A CL E G H9939274000Radial aplasia-thrombocytopenia syndrome274000C0175703OMIM1142059905605313
HP:0011304HP:0011304Broad thumb1RLIM CL E G H51132300978Mental retardation, X-linked 61300978C4283894OMIM1516113429300379
HP:0011304HP:0011304Broad thumb1ROR2 CL E G H49201507Congenital unilateral pulmonary hypoplasiaORPHA14025810257602337
HP:0011304HP:0011304Broad thumb1ROR2 CL E G H4920268310Robinow syndrome, autosomal recessive268310C1849334OMIM14025810257602337
HP:0011304HP:0011304Broad thumb1ROR2 CL E G H4920113000Type B brachydactyly113000C1862112OMIM14025810257602337
HP:0011304HP:0011304Broad thumb1SALL1 CL E G H6299107480Townes-Brocks syndrome 1107480CN034849OMIM18818210524602218
HP:0011304HP:0011304Broad thumb1SMO CL E G H66081553ORPHA177111119601500
HP:0011304HP:0011304Broad thumb1SNIP1 CL E G H79753614501Psychomotor retardation, epilepsy, and craniofacial dysmorphism614501C3281055OMIM112830587608241
HP:0011304HP:0011304Broad thumb1SRCAP CL E G H108472044Ectodermal dysplasia Berlin typeORPHA14424516974611421
HP:0011304HP:0011304Broad thumb1SUMF1 CL E G H285362585ORPHA15526520376607939
HP:0011304HP:0011304Broad thumb1SUMF1 CL E G H285362272200Multiple sulfatase deficiency272200C0268263OMIM15526520376607939
HP:0011304HP:0011304Broad thumb1SUZ12 CL E G H235123447ORPHA137217101606245
HP:0011304HP:0011304Broad thumb1USP9X CL E G H8239300919Mental retardation, X-linked 99300919C3806746OMIM12826912632300072
HP:0011304HP:0011304Broad thumb1WNT5A CL E G H7474180700Robinow syndrome180700C0265205OMIM1115812784164975
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0011304HP:0011304Broad thumb0ACAN CL E G H176612813Spondyloepimetaphyseal dysplasia, Aggrecan type612813C2748544OMIM064178319155760
HP:0011304HP:0011304Broad thumb0BMP2 CL E G H650261295ORPHA037691069112261
HP:0011304HP:0011304Broad thumb0BPTF CL E G H2186529962ORPHA014803581601819
HP:0011304HP:0011304Broad thumb0DACT1 CL E G H51339857Benign familial infantile epilepsyORPHA085017748607861
HP:0011304HP:0011304Broad thumb0DVL3 CL E G H1857616894Robinow syndrome, autosomal dominant 3616894C4225164OMIM015773087601368
HP:0011304HP:0011304Broad thumb0FGF9 CL E G H2254612961Multiple synostoses syndrome 3612961C2751826OMIM031463687600921
HP:0011304HP:0011304Broad thumb0FGFR2 CL E G H2263794ORPHA01593363689176943
HP:0011304HP:0011304Broad thumb0FGFR3 CL E G H2261794ORPHA0774313690134934
HP:0011304HP:0011304Broad thumb0GATA4 CL E G H2626251071ORPHA01713414173600576
HP:0011304HP:0011304Broad thumb0GLI3 CL E G H2737380ORPHA02445374319165240
HP:0011304HP:0011304Broad thumb0GLI3 CL E G H2737174200Postaxial polydactyly174200C0220697OMIM02445374319165240
HP:0011304HP:0011304Broad thumb0INPPL1 CL E G H36362746Hoyeraal syndromeORPHA032636080600829
HP:0011304HP:0011304Broad thumb0PSMD12 CL E G H5718529962ORPHA010359557604450
HP:0011304HP:0011304Broad thumb0PTEN CL E G H5728109Bannayan-Riley-Ruvalcaba syndromeC0265326ORPHA065820199588601728
HP:0011304HP:0011304Broad thumb0RBM8A CL E G H99393320ORPHA0142059905605313
HP:0011304HP:0011304Broad thumb0SALL1 CL E G H6299857Benign familial infantile epilepsyORPHA08818210524602218
HP:0011304HP:0011304Broad thumb0SATB2 CL E G H23314251019ORPHA010627421637608148
HP:0011304HP:0011304Broad thumb0SMO CL E G H6608601707Craniofacial malformations, asymmetric, with polysyndactyly and abnormal skin and gut development601707C0795915OMIM077111119601500
HP:0011304HP:0011304Broad thumb0SMOC1 CL E G H640931106ORPHA0155420318608488
HP:0011304HP:0011304Broad thumb0TBX5 CL E G H6910392Weinstein Kliman Scully syndromeORPHA013231511604601620
HP:0011304HP:0011304Broad thumb0TWIST1 CL E G H7291794ORPHA020911512428601622
HP:0011304HP:0011304Broad thumb0XYLT1 CL E G H64131615777Desbuquois dysplasia 2615777C4014294OMIM02316715516608124
HP:0011304HP:0011304Broad thumb1ACAN CL E G H176612813Spondyloepimetaphyseal dysplasia, Aggrecan type612813C2748544OMIM064178319155760
HP:0011304HP:0011304Broad thumb1BMP2 CL E G H650261295ORPHA037691069112261
HP:0011304HP:0011304Broad thumb1BPTF CL E G H2186529962ORPHA014803581601819
HP:0011304HP:0011304Broad thumb1DACT1 CL E G H51339857Benign familial infantile epilepsyORPHA085017748607861
HP:0011304HP:0011304Broad thumb1DVL3 CL E G H1857616894Robinow syndrome, autosomal dominant 3616894C4225164OMIM015773087601368
HP:0011304HP:0011304Broad thumb1FGF9 CL E G H2254612961Multiple synostoses syndrome 3612961C2751826OMIM031463687600921
HP:0011304HP:0011304Broad thumb1FGFR2 CL E G H2263794ORPHA01593363689176943
HP:0011304HP:0011304Broad thumb1FGFR3 CL E G H2261794ORPHA0774313690134934
HP:0011304HP:0011304Broad thumb1GATA4 CL E G H2626251071ORPHA01713414173600576
HP:0011304HP:0011304Broad thumb1GLI3 CL E G H2737380ORPHA02445374319165240
HP:0011304HP:0011304Broad thumb1GLI3 CL E G H2737174200Postaxial polydactyly174200C0220697OMIM02445374319165240
HP:0011304HP:0011304Broad thumb1INPPL1 CL E G H36362746Hoyeraal syndromeORPHA032636080600829
HP:0011304HP:0011304Broad thumb1PSMD12 CL E G H5718529962ORPHA010359557604450
HP:0011304HP:0011304Broad thumb1PTEN CL E G H5728109Bannayan-Riley-Ruvalcaba syndromeC0265326ORPHA065820199588601728
HP:0011304HP:0011304Broad thumb1RBM8A CL E G H99393320ORPHA0142059905605313
HP:0011304HP:0011304Broad thumb1SALL1 CL E G H6299857Benign familial infantile epilepsyORPHA08818210524602218
HP:0011304HP:0011304Broad thumb1SATB2 CL E G H23314251019ORPHA010627421637608148
HP:0011304HP:0011304Broad thumb1SMO CL E G H6608601707Craniofacial malformations, asymmetric, with polysyndactyly and abnormal skin and gut development601707C0795915OMIM077111119601500
HP:0011304HP:0011304Broad thumb1SMOC1 CL E G H640931106ORPHA0155420318608488
HP:0011304HP:0011304Broad thumb1TBX5 CL E G H6910392Weinstein Kliman Scully syndromeORPHA013231511604601620
HP:0011304HP:0011304Broad thumb1TWIST1 CL E G H7291794ORPHA020911512428601622
HP:0011304HP:0011304Broad thumb1XYLT1 CL E G H64131615777Desbuquois dysplasia 2615777C4014294OMIM02316715516608124


Genes (61) :ACAN B3GAT3 BMP2 BPTF CHST3 COL2A1 CREBBP DACT1 DVL1 DVL3 EED EP300 EXOSC2 EZH2 FGF9 FGFR1 FGFR2 FGFR3 FLNA FLNB G6PC3 GATA4 GDF5 GJA5 GJA8 GLI3 GNAS GPC3 GPC4 HOXD13 INPPL1 KCNH1 LIG4 MED12 MEGF8 MEIS2 NOG NSD1 NSUN2 NXN OTUD6B PRKD1 PSMD12 PTEN RAB23 RBM8A RLIM ROR2 SALL1 SATB2 SMO SMOC1 SNIP1 SRCAP SUMF1 SUZ12 TBX5 TWIST1 USP9X WNT5A XYLT1

Diseases (72) :171866 612813 261295 529962 271700 180849 857 180700 616331 616894 3447 617561 613684 617763 277590 3237 612961 93258 101600 794 93260 87 93259 304120 503 612541 251071 612474 380 672 175700 174200 373 312870 2746 611816 235 305450 309520 65759 614976 600987 184460 1507 505237 617452 617364 109 3320 274000 300978 268310 113000 107480 251019 1553 601707 1106 614501 2044 585 272200 392 300919 615777 245600 101200 311300 150250 79444 79443 113200
 

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