Human Phenotype Ontology 
Grandparent Node:
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Abnormal morphology of the radius (HP:0002818)help
Grandparent Node:
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Aplasia/hypoplasia involving forearm bones (HP:0006503)help
Parent Node:
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Absent forearm bone (HP:0003953)help
Parent Node:
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Aplasia involving forearm bones (HP:0009822)help
Parent Node:
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Aplasia/Hypoplasia of the radius (HP:0006501)help
..Starting node
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Absent radius (HP:0003974)help
Term ID: 3974
Name: Absent radius
Synonym: absence of radius and ulna; Absent ossification/absence of radius; Aplasia of the radius; Missing outer large bone of forearm; Radial aplasia
Definition: Missing radius bone associated with congenital failure of development.
Comments:
Reference: HP:0003974
Genes and Diseases:
 
       Child Nodes:
........expandBilateral radial aplasia (HP:0004977) help
........expandUnilateral radial aplasia (HP:0011908) help

 Sister Nodes: 
..expandHypoplasia of the radius (HP:0002984) help
..expandRadial club hand (HP:0004059) 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:0003974HP:0003974Absent radius0CHD7 CL E G H5563620626OMIM:214800Charge syndromeHP:0040283 - Occasional515
HP:0003974HP:0003974Absent radius0CHN1 CL E G H11231943ORPHA:233Duane retraction syndromeHP:0040283 - Occasional35
HP:0003974HP:0003974Absent radius0DONSON CL E G H299802993OMIM:251230Microcephaly-Micromelia syndrome.9
HP:0003974HP:0003974Absent radius0FANCA CL E G H21753582OMIM:227650Fanconi anemia.340
HP:0003974HP:0003974Absent radius0FANCB CL E G H21873583OMIM:300514FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB58
HP:0003974HP:0003974Absent radius0FANCB CL E G H21873583OMIM:314390VACTERL association, X-linked.58
HP:0003974HP:0003974Absent radius0FANCC CL E G H21763584OMIM:227645Fanconi anemia, complementation group C.410
HP:0003974HP:0003974Absent radius0FANCD2 CL E G H21773585OMIM:227646Fanconi anemia, complementation group D2147
HP:0003974HP:0003974Absent radius0FANCE CL E G H21783586OMIM:600901Fanconi anemia, complementation group E.73
HP:0003974HP:0003974Absent radius0FANCL CL E G H5512020748OMIM:614083Fanconi anemia, complementation group L53
HP:0003974HP:0003974Absent radius0FGF10 CL E G H22553666OMIM:149730Lacrimoauriculodentodigital syndrome.17
HP:0003974HP:0003974Absent radius0FGFR2 CL E G H22633689OMIM:149730Lacrimoauriculodentodigital syndrome.175
HP:0003974HP:0003974Absent radius0FGFR3 CL E G H22613690OMIM:149730Lacrimoauriculodentodigital syndrome.145
HP:0003974HP:0003974Absent radius0FLNB CL E G H23173755ORPHA:56305Atelosteogenesis type IIIHP:0040283 - Occasional233
HP:0003974HP:0003974Absent radius0FLNB CL E G H23173755OMIM:112310Boomerang dysplasia.233
HP:0003974HP:0003974Absent radius0GLI3 CL E G H27374319ORPHA:93322Tibial hemimeliaHP:0040283 - Occasional270
HP:0003974HP:0003974Absent radius0LMBR1 CL E G H6432713243ORPHA:931AcheiropodiaHP:0040281 - Very frequent106
HP:0003974HP:0003974Absent radius0LMBR1 CL E G H6432713243OMIM:200500ACHEIROPODY; ACHP106
HP:0003974HP:0003974Absent radius0LMBR1 CL E G H6432713243ORPHA:2378Laurin-Sandrow syndromeHP:0040282 - Frequent106
HP:0003974HP:0003974Absent radius0LMBR1 CL E G H6432713243OMIM:135750Laurin-Sandrow syndrome.106
HP:0003974HP:0003974Absent radius0MAFB CL E G H99356408ORPHA:233Duane retraction syndromeHP:0040283 - Occasional63
HP:0003974HP:0003974Absent radius0RBM8A CL E G H99399905OMIM:274000Thrombocytopenia-absent radius syndrome10
HP:0003974HP:0003974Absent radius0RBM8A CL E G H99399905ORPHA:3320Thrombocytopenia-absent radius syndromeHP:0040281 - Very frequent10
HP:0003974HP:0003974Absent radius0RECQL4 CL E G H94019949OMIM:218600Baller-Gerold syndrome.445
HP:0003974HP:0003974Absent radius0RIPK4 CL E G H54101496OMIM:263650Popliteal pterygium syndrome, Bartsocas-Papas type 169
HP:0003974HP:0003974Absent radius0SALL4 CL E G H5716715924ORPHA:233Duane retraction syndromeHP:0040283 - Occasional86
HP:0003974HP:0003974Absent radius0SALL4 CL E G H5716715924OMIM:607323Duane-Radial ray syndrome.86
HP:0003974HP:0003974Absent radius0SF3B4 CL E G H1026210771OMIM:154400Acrofacial dysostosis 1, Nager type.49
HP:0003974HP:0003974Absent radius0TBX3 CL E G H692611602OMIM:181450Ulnar-Mammary syndrome.100
HP:0003974HP:0003974Absent radius0TBX5 CL E G H691011604OMIM:142900Holt-Oram syndrome123
HP:0003974HP:0003974Absent radius0TRIO CL E G H720412303ORPHA:476126Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome8
HP:0003974HP:0003974Absent radius0XRCC2 CL E G H751612829OMIM:617247FANCONI ANEMIA, COMPLEMENTATION GROUP U125
HP:0003974HP:0003974Absent radius0ZIC3 CL E G H754712874OMIM:314390VACTERL association, X-linked.39
HP:0003974HP:0004977Bilateral radial aplasia1FANCB CL E G H21873583OMIM:300514FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB58
HP:0003974HP:0004977Bilateral radial aplasia1RBM8A CL E G H99399905OMIM:274000Thrombocytopenia-absent radius syndrome10
HP:0003974HP:0011908Unilateral radial aplasia1TRIO CL E G H720412303ORPHA:476126Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndromeHP:0040283 - Occasional8


Genes (26) :CHD7 CHN1 DONSON FANCA FANCB FANCC FANCD2 FANCE FANCL FGF10 FGFR2 FGFR3 FLNB GLI3 LMBR1 MAFB RBM8A RECQL4 RIPK4 SALL4 SF3B4 TBX3 TBX5 TRIO XRCC2 ZIC3

Diseases (28) :OMIM:214800 ORPHA:233 OMIM:251230 OMIM:227650 OMIM:300514 OMIM:314390 OMIM:227645 OMIM:227646 OMIM:600901 OMIM:614083 OMIM:149730 ORPHA:56305 OMIM:112310 ORPHA:93322 ORPHA:931 OMIM:200500 ORPHA:2378 OMIM:135750 OMIM:274000 ORPHA:3320 OMIM:218600 OMIM:263650 OMIM:607323 OMIM:154400 OMIM:181450 OMIM:142900 ORPHA:476126 OMIM:617247
 

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