Human Phenotype Ontology 
Grandparent Node:
expand
Abnormal thumb morphology (HP:0001172)help
Grandparent Node:
expand
Deviation of finger (HP:0004097)help
Parent Node:
expand
Deviation of the thumb (HP:0009603)help
..Starting node
..expand
Proximal placement of thumb (HP:0009623)help
Term ID: 9623
Name: Proximal placement of thumb
Synonym: Attachment of thumb close to wrist; Low implantation of the thumb; Low-set thumb; Proximally placed thumbs
Definition: Proximal mislocalization of the thumb.
Comments:
Reference: HP:0009623
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandClinodactyly of the thumb (HP:0040023) help
..expandDistally placed thumb (HP:0009622) help
..expandHitchhiker thumb (HP:0001234) help
..expandobsolete Radial deviation of the thumb (HP:0040021) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0009623HP:0009623Proximal placement of thumb0ALG12 CL E G H7908719358ORPHA:79324ALG12-CDGHP:0040283 - Occasional68
HP:0009623HP:0009623Proximal placement of thumb0ANKRD11 CL E G H2912321316ORPHA:26125016q24.3 microdeletion syndromeHP:0040283 - Occasional102
HP:0009623HP:0009623Proximal placement of thumb0B3GLCT CL E G H14517320207OMIM:261540Peters-Plus syndrome.36
HP:0009623HP:0009623Proximal placement of thumb0BAP1 CL E G H8314950OMIM:619762KURY-ISIDOR SYNDROME; KURIS184
HP:0009623HP:0009623Proximal placement of thumb0BMP4 CL E G H6521071ORPHA:139471Microphthalmia with brain and digit anomaliesHP:0040283 - Occasional38
HP:0009623HP:0009623Proximal placement of thumb0BRCA1 CL E G H6721100OMIM:617883Fanconi anemia, complementation group SHP:0040284 - Very rare5769
HP:0009623HP:0009623Proximal placement of thumb0BRD4 CL E G H2347613575ORPHA:199Cornelia de Lange syndromeHP:0040281 - Very frequent
HP:0009623HP:0009623Proximal placement of thumb0CDC42 CL E G H9981736ORPHA:487796Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndromeHP:0040283 - Occasional6
HP:0009623HP:0009623Proximal placement of thumb0CDC42 CL E G H9981736OMIM:616737Takenouchi-Kosaki syndrome.6
HP:0009623HP:0009623Proximal placement of thumb0CRIPT CL E G H941914312OMIM:615789Short stature with microcephaly and distinctive facies.4
HP:0009623HP:0009623Proximal placement of thumb0DHCR7 CL E G H17172860ORPHA:818Smith-Lemli-Opitz syndromeHP:0040282 - Frequent159
HP:0009623HP:0009623Proximal placement of thumb0DHCR7 CL E G H17172860OMIM:270400Smith-Lemli-Opitz syndrome159
HP:0009623HP:0009623Proximal placement of thumb0EFTUD2 CL E G H934330858OMIM:610536Mandibulofacial dysostosis, Guion-Almeida typeHP:0040283 - Occasional48
HP:0009623HP:0009623Proximal placement of thumb0EIF4A3 CL E G H977518683OMIM:268305Robin sequence with cleft mandible and limb anomalies.4
HP:0009623HP:0009623Proximal placement of thumb0ESCO2 CL E G H15757027230ORPHA:3103Roberts syndromeHP:0040281 - Very frequent92
HP:0009623HP:0009623Proximal placement of thumb0FANCB CL E G H21873583OMIM:314390VACTERL association, X-linked.58
HP:0009623HP:0009623Proximal placement of thumb0FLNA CL E G H23163754ORPHA:90650Otopalatodigital syndrome type 1HP:0040282 - Frequent493
HP:0009623HP:0009623Proximal placement of thumb0GATA4 CL E G H26264173ORPHA:2510718p23.1 microdeletion syndromeHP:0040283 - Occasional87
HP:0009623HP:0009623Proximal placement of thumb0HDAC8 CL E G H5586913315ORPHA:199Cornelia de Lange syndromeHP:0040281 - Very frequent37
HP:0009623HP:0009623Proximal placement of thumb0HDAC8 CL E G H5586913315OMIM:300882Cornelia de Lange syndrome 537
HP:0009623HP:0009623Proximal placement of thumb0HOXA13 CL E G H32095102ORPHA:2438Hand-foot-genital syndromeHP:0040281 - Very frequent11
HP:0009623HP:0009623Proximal placement of thumb0HOXA13 CL E G H32095102OMIM:140000Hand-Foot-Genital syndrome.11
HP:0009623HP:0009623Proximal placement of thumb0KCNH1 CL E G H37566250OMIM:611816Temple-Baraitser syndrome13
HP:0009623HP:0009623Proximal placement of thumb0LONP1 CL E G H93619479OMIM:600373CODAS syndromeHP:0040283 - Occasional8
HP:0009623HP:0009623Proximal placement of thumb0MGAT2 CL E G H42477045OMIM:212066Congenital disorder of glycosylation, type IIa.39
HP:0009623HP:0009623Proximal placement of thumb0NIPBL CL E G H2583628862ORPHA:199Cornelia de Lange syndromeHP:0040281 - Very frequent494
HP:0009623HP:0009623Proximal placement of thumb0NIPBL CL E G H2583628862OMIM:122470Cornelia de Lange syndrome 1.494
HP:0009623HP:0009623Proximal placement of thumb0NKX3-2 CL E G H579951OMIM:613330Spondylo-Megaepiphyseal-Metaphyseal dysplasia10
HP:0009623HP:0009623Proximal placement of thumb0NOG CL E G H92417866OMIM:611377Brachydactyly, type B222
HP:0009623HP:0009623Proximal placement of thumb0PTRH2 CL E G H5165124265ORPHA:456312Infantile multisystem neurologic-endocrine-pancreatic diseaseHP:0040282 - Frequent6
HP:0009623HP:0009623Proximal placement of thumb0PTRH2 CL E G H5165124265OMIM:616263Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset.6
HP:0009623HP:0009623Proximal placement of thumb0RAD21 CL E G H58859811ORPHA:199Cornelia de Lange syndromeHP:0040281 - Very frequent25
HP:0009623HP:0009623Proximal placement of thumb0RAD51C CL E G H58899820OMIM:613390Fanconi anemia, complementation group O391
HP:0009623HP:0009623Proximal placement of thumb0RRAS2 CL E G H2280017271OMIM:618624NOONAN SYNDROME 12; NS121
HP:0009623HP:0009623Proximal placement of thumb0SHMT2 CL E G H647210852OMIM:619121NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0009623HP:0009623Proximal placement of thumb0SIN3A CL E G H2594219353ORPHA:9406515q24 microdeletion syndromeHP:0040283 - Occasional9
HP:0009623HP:0009623Proximal placement of thumb0SIN3A CL E G H2594219353OMIM:613406Witteveen-Kolk syndrome9
HP:0009623HP:0009623Proximal placement of thumb0SLC26A2 CL E G H183610994ORPHA:628Diastrophic dysplasiaHP:0040281 - Very frequent166
HP:0009623HP:0009623Proximal placement of thumb0SMC1A CL E G H824311111ORPHA:199Cornelia de Lange syndromeHP:0040281 - Very frequent135
HP:0009623HP:0009623Proximal placement of thumb0SMC1A CL E G H824311111OMIM:300590Cornelia de Lange syndrome 2.135
HP:0009623HP:0009623Proximal placement of thumb0SMC3 CL E G H91262468ORPHA:199Cornelia de Lange syndromeHP:0040281 - Very frequent91
HP:0009623HP:0009623Proximal placement of thumb0SMC3 CL E G H91262468OMIM:610759Cornelia de Lange syndrome 391
HP:0009623HP:0009623Proximal placement of thumb0TFAP2A CL E G H702011742OMIM:113620Branchiooculofacial syndrome.12
HP:0009623HP:0009623Proximal placement of thumb0TP63 CL E G H862615979ORPHA:1896EEC syndromeHP:0040283 - Occasional140
HP:0009623HP:0009623Proximal placement of thumb0ZC4H2 CL E G H5590624931OMIM:314580Wieacker-Wolff syndrome.19
HP:0009623HP:0009623Proximal placement of thumb0ZIC3 CL E G H754712874OMIM:314390VACTERL association, X-linked.39
HP:0009623HP:0009623Proximal placement of thumb0ZNF462 CL E G H5849921684OMIM:618619WEISS-KRUSZKA SYNDROME; WSKA4


Genes (38) :ALG12 ANKRD11 B3GLCT BAP1 BMP4 BRCA1 BRD4 CDC42 CRIPT DHCR7 EFTUD2 EIF4A3 ESCO2 FANCB FLNA GATA4 HDAC8 HOXA13 KCNH1 LONP1 MGAT2 NIPBL NKX3-2 NOG PTRH2 RAD21 RAD51C RRAS2 SHMT2 SIN3A SLC26A2 SMC1A SMC3 TFAP2A TP63 ZC4H2 ZIC3 ZNF462

Diseases (41) :ORPHA:79324 ORPHA:261250 OMIM:261540 OMIM:619762 ORPHA:139471 OMIM:617883 ORPHA:199 ORPHA:487796 OMIM:616737 OMIM:615789 ORPHA:818 OMIM:270400 OMIM:610536 OMIM:268305 ORPHA:3103 OMIM:314390 ORPHA:90650 ORPHA:251071 OMIM:300882 ORPHA:2438 OMIM:140000 OMIM:611816 OMIM:600373 OMIM:212066 OMIM:122470 OMIM:613330 OMIM:611377 ORPHA:456312 OMIM:616263 OMIM:613390 OMIM:618624 OMIM:619121 ORPHA:94065 OMIM:613406 ORPHA:628 OMIM:300590 OMIM:610759 OMIM:113620 ORPHA:1896 OMIM:314580 OMIM:618619
 

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