Human Phenotype Ontology 
Grandparent Node:
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Abnormality of finger (HP:0001167)help
Parent Node:
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Abnormal thumb morphology (HP:0001172)help
..Starting node
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Adducted thumb (HP:0001181)help
Term ID: 1181
Name: Adducted thumb
Synonym: Adducted thumbs; Inward turned thumb
Definition: In the resting position, the tip of the thumb is on, or near, the palm, close to the base of the fourth or fifth finger.
Comments:
Reference: HP:0001181
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormality of thumb epiphysis (HP:0009599) help
..expandAbnormality of thumb phalanx (HP:0009602) help
..expandAplasia/Hypoplasia of the thumb (HP:0009601) help
..expandDeviation of the thumb (HP:0009603) help
..expandFlexion contracture of thumb (HP:0009600) help
..expandPreaxial hand polydactyly (HP:0001177) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0001181HP:0001181Adducted thumb0ADGRG6 CL E G H57211616503Lethal congenital contracture syndrome 9616503C4225303OMIM165213841612243
HP:0001181HP:0001181Adducted thumb0ALDH18A1 CL E G H5832616603Cutis laxa, autosomal dominant 3616603C4225268OMIM1332529722138250
HP:0001181HP:0001181Adducted thumb0ALDH18A1 CL E G H5832219150Cutis laxa-corneal clouding-oligophrenia syndrome219150C0268354OMIM1332529722138250
HP:0001181HP:0001181Adducted thumb0ALG3 CL E G H10195601110Congenital disorder of glycosylation type 1D601110C1832736OMIM11912323056608750
HP:0001181HP:0001181Adducted thumb0ANKLE2 CL E G H23141616681Microcephaly 16, primary, autosomal recessive616681C4225249OMIM128129101616062
HP:0001181HP:0001181Adducted thumb0AP4M1 CL E G H9179612936Spastic paraplegia 50, autosomal recessive612936C2752008OMIM115150574602296
HP:0001181HP:0001181Adducted thumb0ATAD1 CL E G H84896618011HYPEREKPLEXIA 4618011CN248518OMIM132625903614452
HP:0001181HP:0001181Adducted thumb0CHST11 CL E G H50515618167OSTEOCHONDRODYSPLASIA, BRACHYDACTYLY, AND OVERLAPPING MALFORMED DIGITS618167OMIM141917422610128
HP:0001181HP:0001181Adducted thumb0CHST14 CL E G H113189601776Ehlers-Danlos syndrome, musculocontractural type601776C1866294OMIM1229624464608429
HP:0001181HP:0001181Adducted thumb0COG7 CL E G H91949608779COG7 congenital disorder of glycosylation608779C2931010OMIM1515918622606978
HP:0001181HP:0001181Adducted thumb0COL12A1 CL E G H130375840ORPHA1158062188120320
HP:0001181HP:0001181Adducted thumb0COL6A1 CL E G H129175840ORPHA113710072211120220
HP:0001181HP:0001181Adducted thumb0COL6A2 CL E G H129275840ORPHA119111482212120240
HP:0001181HP:0001181Adducted thumb0COL6A3 CL E G H129375840ORPHA114316342213120250
HP:0001181HP:0001181Adducted thumb0CRLF1 CL E G H9244272430Cold-induced sweating syndrome 1272430C1848947OMIM137562364604237
HP:0001181HP:0001181Adducted thumb0DSE CL E G H29940615539Ehlers-Danlos syndrome, musculocontractural type 2615539C3809845OMIM1311521144605942
HP:0001181HP:0001181Adducted thumb0ECEL1 CL E G H9427615065Distal arthrogryposis type 5D615065C3554415OMIM1331063147605896
HP:0001181HP:0001181Adducted thumb0ERCC1 CL E G H2067610758Cerebrooculofacioskeletal syndrome 4610758C1853100OMIM18533433126380
HP:0001181HP:0001181Adducted thumb0EXOSC9 CL E G H5393618065PONTOCEREBELLAR HYPOPLASIA, TYPE 1D618065CN252648OMIM12229137606180
HP:0001181HP:0001181Adducted thumb0FBN1 CL E G H2200284979ORPHA1272142843603134797
HP:0001181HP:0001181Adducted thumb0FBN2 CL E G H2201121050Congenital contractural arachnodactyly121050C0220668OMIM111314023604612570
HP:0001181HP:0001181Adducted thumb0ISPD CL E G H729920614643Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7614643C3553330OMIM147537276614631
HP:0001181HP:0001181Adducted thumb0KCNH1 CL E G H3756611816Temple-Baraitser syndrome611816C2678486OMIM113916250603305
HP:0001181HP:0001181Adducted thumb0KIAA1109 CL E G H84162617822ALKURAYA-KUCINSKAS SYNDROME617822CN737163OMIM1167126953611565
HP:0001181HP:0001181Adducted thumb0L1CAM CL E G H38972182ORPHA12935196470308840
HP:0001181HP:0001181Adducted thumb0L1CAM CL E G H3897303350Spastic paraplegia 1303350C0795953OMIM12935196470308840
HP:0001181HP:0001181Adducted thumb0L1CAM CL E G H3897307000X-linked hydrocephalus syndrome307000C0265216OMIM12935196470308840
HP:0001181HP:0001181Adducted thumb0LIFR CL E G H3977601559Stuve-Wiedemann syndrome601559C0796176OMIM1323466597151443
HP:0001181HP:0001181Adducted thumb0MYBPC1 CL E G H46041146ORPHA181157549160794
HP:0001181HP:0001181Adducted thumb0MYH3 CL E G H46211147ORPHA1453157573160720
HP:0001181HP:0001181Adducted thumb0MYH3 CL E G H46211146ORPHA1453157573160720
HP:0001181HP:0001181Adducted thumb0MYH3 CL E G H4621193700Freeman-Sheldon syndrome193700C0265224OMIM1453157573160720
HP:0001181HP:0001181Adducted thumb0NALCN CL E G H2592321147ORPHA16524719082611549
HP:0001181HP:0001181Adducted thumb0NALCN CL E G H2592321146ORPHA16524719082611549
HP:0001181HP:0001181Adducted thumb0NALCN CL E G H259232616266Congenital contractures of the limbs and face, hypotonia, and developmental delay616266C4225398OMIM16524719082611549
HP:0001181HP:0001181Adducted thumb0NEK9 CL E G H91754617022Lethal congenital contracture syndrome 10617022C4310760OMIM134518591609798
HP:0001181HP:0001181Adducted thumb0PHGDH CL E G H26227601815Phosphoglycerate dehydrogenase deficiency601815C1866174OMIM1231458923606879
HP:0001181HP:0001181Adducted thumb0RBM8A CL E G H9939274000Radial aplasia-thrombocytopenia syndrome274000C0175703OMIM1142059905605313
HP:0001181HP:0001181Adducted thumb0RFT1 CL E G H91869612015Congenital disorder of glycosylation type 1N612015C2677590OMIM11317930220611908
HP:0001181HP:0001181Adducted thumb0SLC9A6 CL E G H1047985278ORPHA12835111079300231
HP:0001181HP:0001181Adducted thumb0SLC9A6 CL E G H10479300243Christianson syndrome300243C2678194OMIM12835111079300231
HP:0001181HP:0001181Adducted thumb0STUB1 CL E G H10273412057ORPHA13110511427607207
HP:0001181HP:0001181Adducted thumb0TAPT1 CL E G H202018616897Osteochondrodysplasia, complex lethal, symoens-barnes-gistelinck type616897C4225162OMIM136626887612758
HP:0001181HP:0001181Adducted thumb0TNNI2 CL E G H71361147ORPHA1118711946191043
HP:0001181HP:0001181Adducted thumb0TNNI2 CL E G H71361146ORPHA1118711946191043
HP:0001181HP:0001181Adducted thumb0TNNT3 CL E G H71401147ORPHA149111950600692
HP:0001181HP:0001181Adducted thumb0TNNT3 CL E G H71401146ORPHA149111950600692
HP:0001181HP:0001181Adducted thumb0TPM2 CL E G H71691147ORPHA14019912011190990
HP:0001181HP:0001181Adducted thumb0TPM2 CL E G H71691146ORPHA14019912011190990
HP:0001181HP:0001181Adducted thumb0TPM2 CL E G H7169108120Distal arthrogryposis type 1A108120C0220662OMIM14019912011190990
HP:0001181HP:0001181Adducted thumb0UBA1 CL E G H73171145ORPHA1535112469314370
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001181HP:0001181Adducted thumb0ACTA1 CL E G H58171430ORPHA0217272129102610
HP:0001181HP:0001181Adducted thumb0ALG13 CL E G H79868324422ORPHA01446330881300776
HP:0001181HP:0001181Adducted thumb0BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA05187961605681
HP:0001181HP:0001181Adducted thumb0CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA011742586603432
HP:0001181HP:0001181Adducted thumb0ECE1 CL E G H1889388Hirschsprung diseaseC0019569ORPHA07473146600423
HP:0001181HP:0001181Adducted thumb0EDN3 CL E G H1908388Hirschsprung diseaseC0019569ORPHA0211173178131242
HP:0001181HP:0001181Adducted thumb0EDNRB CL E G H1910388Hirschsprung diseaseC0019569ORPHA0701913180131244
HP:0001181HP:0001181Adducted thumb0ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA01275233327130160
HP:0001181HP:0001181Adducted thumb0GDNF CL E G H2668388Hirschsprung diseaseC0019569ORPHA0111194232600837
HP:0001181HP:0001181Adducted thumb0GPKOW CL E G H272382570Growth deficiency brachydactyly unusual faciesORPHA0216330677301003
HP:0001181HP:0001181Adducted thumb0GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA011574659601679
HP:0001181HP:0001181Adducted thumb0GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA062064661604318
HP:0001181HP:0001181Adducted thumb0KLHL40 CL E G H131377171430ORPHA02619030372615340
HP:0001181HP:0001181Adducted thumb0KLHL41 CL E G H10324171430ORPHA099816905607701
HP:0001181HP:0001181Adducted thumb0LAGE3 CL E G H82702065ORPHA0321926058300060
HP:0001181HP:0001181Adducted thumb0LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA071936613601329
HP:0001181HP:0001181Adducted thumb0LMOD3 CL E G H56203171430ORPHA0181686649616112
HP:0001181HP:0001181Adducted thumb0NEB CL E G H4703171430ORPHA032130107720161650
HP:0001181HP:0001181Adducted thumb0NRTN CL E G H4902388Hirschsprung diseaseC0019569ORPHA03158007602018
HP:0001181HP:0001181Adducted thumb0NUP107 CL E G H571222065ORPHA0124029914607617
HP:0001181HP:0001181Adducted thumb0OSGEP CL E G H556442065ORPHA0174618028610107
HP:0001181HP:0001181Adducted thumb0PHGDH CL E G H2622779351ORPHA0231458923606879
HP:0001181HP:0001181Adducted thumb0RBM8A CL E G H99393320ORPHA0142059905605313
HP:0001181HP:0001181Adducted thumb0RET CL E G H5979388Hirschsprung diseaseC0019569ORPHA043214969967164761
HP:0001181HP:0001181Adducted thumb0RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA041739970600404
HP:0001181HP:0001181Adducted thumb0SEMA3C CL E G H10512388Hirschsprung diseaseC0019569ORPHA044210725602645
HP:0001181HP:0001181Adducted thumb0SEMA3D CL E G H223117388Hirschsprung diseaseC0019569ORPHA0144810726609907
HP:0001181HP:0001181Adducted thumb0TBL2 CL E G H26608904Blepharophimosis nasal groove growth retardationORPHA015911586605842
HP:0001181HP:0001181Adducted thumb0TP53RK CL E G H1128582065ORPHA052616197608679
HP:0001181HP:0001181Adducted thumb0TPRKB CL E G H510022065ORPHA021324259608680
HP:0001181HP:0001181Adducted thumb0WDR4 CL E G H107852065ORPHA069112756605924
HP:0001181HP:0001181Adducted thumb0WDR73 CL E G H849422065ORPHA0129525928616144


Genes (70) :ACTA1 ADGRG6 ALDH18A1 ALG13 ALG3 ANKLE2 AP4M1 ATAD1 BAZ1B CHST11 CHST14 CLIP2 COG7 COL12A1 COL6A1 COL6A2 COL6A3 CRLF1 CRPPA DSE ECE1 ECEL1 EDN3 EDNRB ELN ERCC1 EXOSC9 FBN1 FBN2 GDNF GPKOW GTF2I GTF2IRD1 ISPD KCNH1 KIAA1109 KLHL40 KLHL41 L1CAM LAGE3 LIFR LIMK1 LMOD3 MYBPC1 MYH3 NALCN NEB NEK9 NRTN NUP107 OSGEP PHGDH RBM8A RET RFC2 RFT1 SEMA3C SEMA3D SLC9A6 STUB1 TAPT1 TBL2 TNNI2 TNNT3 TP53RK TPM2 TPRKB UBA1 WDR4 WDR73

Diseases (47) :171430 616503 616603 219150 324422 601110 616681 612936 618011 904 618167 601776 608779 75840 272430 614643 615539 388 615065 610758 618065 284979 121050 2570 611816 617822 2182 303350 307000 2065 601559 1146 1147 193700 616266 617022 79351 601815 3320 274000 612015 85278 300243 412057 616897 108120 1145
 

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