Human Phenotype Ontology 
Grandparent Node:
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Abnormal thumb morphology (HP:0001172)help
Grandparent Node:
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Aplasia/Hypoplasia of fingers (HP:0006265)help
Parent Node:
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Aplasia of the fingers (HP:0009380)help
Parent Node:
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Aplasia/Hypoplasia of the thumb (HP:0009601)help
..Starting node
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Absent thumb (HP:0009777)help
Term ID: 9777
Name: Absent thumb
Synonym: Absent thumb; Absent thumbs; Aplasia of the thumb; Thumb aplasia
Definition: Absent thumb, i.e., the absence of both phalanges of a thumb and the associated soft tissues.
Comments:
Reference: HP:0009777
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandPartial absence of thumb (HP:0009659) help
..expandShort thumb (HP:0009778) 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:0009777HP:0009777Absent thumb0ADA2 CL E G H518161839ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional22
HP:0009777HP:0009777Absent thumb0CUL3 CL E G H84522553OMIM:619239NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISM OR SEIZURES; NEDAUS92
HP:0009777HP:0009777Absent thumb0ERCC4 CL E G H20723436OMIM:615272Fanconi anemia, complementation group Q.158
HP:0009777HP:0009777Absent thumb0FANCA CL E G H21753582OMIM:227650Fanconi anemia.340
HP:0009777HP:0009777Absent thumb0FANCB CL E G H21873583OMIM:300514FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB58
HP:0009777HP:0009777Absent thumb0FANCC CL E G H21763584OMIM:227645Fanconi anemia, complementation group C.410
HP:0009777HP:0009777Absent thumb0FANCD2 CL E G H21773585OMIM:227646Fanconi anemia, complementation group D2147
HP:0009777HP:0009777Absent thumb0FANCE CL E G H21783586OMIM:600901Fanconi anemia, complementation group E.73
HP:0009777HP:0009777Absent thumb0FANCF CL E G H21883587OMIM:603467FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF87
HP:0009777HP:0009777Absent thumb0FANCI CL E G H5521525568OMIM:609053Fanconi anemia, complementation group I.157
HP:0009777HP:0009777Absent thumb0FANCL CL E G H5512020748OMIM:614083Fanconi anemia, complementation group LHP:0040283 - Occasional53
HP:0009777HP:0009777Absent thumb0FGF10 CL E G H22553666ORPHA:2363Lacrimoauriculodentodigital syndromeHP:0040283 - Occasional17
HP:0009777HP:0009777Absent thumb0FGFR2 CL E G H22633689ORPHA:2363Lacrimoauriculodentodigital syndromeHP:0040283 - Occasional175
HP:0009777HP:0009777Absent thumb0FGFR3 CL E G H22613690ORPHA:2363Lacrimoauriculodentodigital syndromeHP:0040283 - Occasional145
HP:0009777HP:0009777Absent thumb0FIG4 CL E G H989616873ORPHA:3472Yunis-Varon syndromeHP:0040282 - Frequent111
HP:0009777HP:0009777Absent thumb0FIG4 CL E G H989616873OMIM:216340Yunis-Varon syndrome.111
HP:0009777HP:0009777Absent thumb0GATA1 CL E G H26234170ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional29
HP:0009777HP:0009777Absent thumb0PSMD12 CL E G H57189557OMIM:617516Stankiewicz-Isidor syndrome4
HP:0009777HP:0009777Absent thumb0RAD51C CL E G H58899820OMIM:613390Fanconi anemia, complementation group O.391
HP:0009777HP:0009777Absent thumb0RECQL4 CL E G H94019949OMIM:266280Rapadilino syndrome.445
HP:0009777HP:0009777Absent thumb0RFWD3 CL E G H5515925539OMIM:617784Fanconi anemia, complementation group W
HP:0009777HP:0009777Absent thumb0RIPK4 CL E G H54101496ORPHA:1234Bartsocas-Papas syndromeHP:0040282 - Frequent69
HP:0009777HP:0009777Absent thumb0RIPK4 CL E G H54101496OMIM:263650Popliteal pterygium syndrome, Bartsocas-Papas type 169
HP:0009777HP:0009777Absent thumb0RPL11 CL E G H613510301ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional22
HP:0009777HP:0009777Absent thumb0RPL15 CL E G H613810306ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional3
HP:0009777HP:0009777Absent thumb0RPL18 CL E G H614110310ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional
HP:0009777HP:0009777Absent thumb0RPL26 CL E G H615410327ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional3
HP:0009777HP:0009777Absent thumb0RPL26 CL E G H615410327OMIM:614900Diamond-Blackfan anemia 11.3
HP:0009777HP:0009777Absent thumb0RPL27 CL E G H615510328ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional1
HP:0009777HP:0009777Absent thumb0RPL31 CL E G H616010334ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional
HP:0009777HP:0009777Absent thumb0RPL35 CL E G H1122410344ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional
HP:0009777HP:0009777Absent thumb0RPL35A CL E G H616510345ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional11
HP:0009777HP:0009777Absent thumb0RPL5 CL E G H612510360ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional40
HP:0009777HP:0009777Absent thumb0RPS10 CL E G H620410383ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional26
HP:0009777HP:0009777Absent thumb0RPS15A CL E G H621010389ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional
HP:0009777HP:0009777Absent thumb0RPS17 CL E G H621810397ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional5
HP:0009777HP:0009777Absent thumb0RPS19 CL E G H622310402ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional42
HP:0009777HP:0009777Absent thumb0RPS19 CL E G H622310402OMIM:105650Diamond-Blackfan anemia 1.42
HP:0009777HP:0009777Absent thumb0RPS20 CL E G H622410405ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional1
HP:0009777HP:0009777Absent thumb0RPS24 CL E G H622910411ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional22
HP:0009777HP:0009777Absent thumb0RPS26 CL E G H623110414ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional20
HP:0009777HP:0009777Absent thumb0RPS27 CL E G H623210416ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional1
HP:0009777HP:0009777Absent thumb0RPS28 CL E G H623410418ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional1
HP:0009777HP:0009777Absent thumb0RPS29 CL E G H623510419ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional3
HP:0009777HP:0009777Absent thumb0RPS7 CL E G H620110440ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional20
HP:0009777HP:0009777Absent thumb0RSPO2 CL E G H34041928583OMIM:618022Humerofemoral hypoplasia with radiotibial ray deficiency.
HP:0009777HP:0009777Absent thumb0SALL4 CL E G H5716715924OMIM:607323Duane-Radial ray syndrome.86
HP:0009777HP:0009777Absent thumb0SALL4 CL E G H5716715924OMIM:147750Ivic syndrome86
HP:0009777HP:0009777Absent thumb0SF3B4 CL E G H1026210771OMIM:154400Acrofacial dysostosis 1, Nager type.49
HP:0009777HP:0009777Absent thumb0SLX4 CL E G H8446423845OMIM:613951Fanconi anemia, complementation group PHP:0040283 - Occasional274
HP:0009777HP:0009777Absent thumb0SON CL E G H665111183ORPHA:500150Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndromeHP:0040283 - Occasional12
HP:0009777HP:0009777Absent thumb0TBX5 CL E G H691011604ORPHA:392Holt-Oram syndromeHP:0040282 - Frequent123
HP:0009777HP:0009777Absent thumb0TBX5 CL E G H691011604OMIM:142900Holt-Oram syndrome123
HP:0009777HP:0009777Absent thumb0TSR2 CL E G H9012125455ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional1
HP:0009777HP:0009777Absent thumb0VAC14 CL E G H5569725507ORPHA:3472Yunis-Varon syndromeHP:0040282 - Frequent6
HP:0009777HP:0009777Absent thumb0XRCC2 CL E G H751612829OMIM:617247FANCONI ANEMIA, COMPLEMENTATION GROUP U125


Genes (50) :ADA2 CUL3 ERCC4 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCI FANCL FGF10 FGFR2 FGFR3 FIG4 GATA1 PSMD12 RAD51C RECQL4 RFWD3 RIPK4 RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPS10 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 RSPO2 SALL4 SF3B4 SLX4 SON TBX5 TSR2 VAC14 XRCC2

Diseases (31) :ORPHA:124 OMIM:619239 OMIM:615272 OMIM:227650 OMIM:300514 OMIM:227645 OMIM:227646 OMIM:600901 OMIM:603467 OMIM:609053 OMIM:614083 ORPHA:2363 ORPHA:3472 OMIM:216340 OMIM:617516 OMIM:613390 OMIM:266280 OMIM:617784 ORPHA:1234 OMIM:263650 OMIM:614900 OMIM:105650 OMIM:618022 OMIM:607323 OMIM:147750 OMIM:154400 OMIM:613951 ORPHA:500150 ORPHA:392 OMIM:142900 OMIM:617247
 

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